PubMed Health⌕ Search

Biomedical subjects

M Fukami

Publications and source records attributed to M Fukami.

At least 19 recordsLinked to original sources
PubMed2001

Rub epilepsy: a somatosensory evoked reflex epilepsy induced by prolonged cutaneous stimulation.

To delineate rub epilepsy--a type of reflex epilepsy induced by prolonged or repetitive cutaneous stimulation in a circumscribed area of the body--three cases are presented, as well as one of tooth brushing epilepsy for comparison. In all three cases of rub epilepsy, cutaneous stimuli in a particular body area on the left side initially induced a sensory jacksonian march in the middle of, or in close vicinity to, the trigger zone, which led to subsequent unilateral tonic contractions with intact consciousness. By contrast, a motor jacksonian seizure without sensory aura was induced in the patient with tooth brushing epilepsy. A review of cases with rub epilepsy, including those in this paper, disclosed a striking consistency in clinical manifestations. The symptomatology of the induced seizures indicates a propagation of epileptic discharges from the postcentral gyrus to the supplementary motor area. Rub epilepsy is proposed as a separate clinical entity, clearly demarcated from other somatosensory evoked reflex epilepsies such as startle and tooth brushing epilepsy.

Adult↗
PubMed2000

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation.

X-linked nonspecific mental retardation (MRX) has a frequency of 0.15% in the male population and is caused by defects in several different genes on the human X chromosome. Genotype-phenotype correlations in male patients with a partial nullisomy of the X chromosome have suggested that at least one locus involved in MRX is on Xp22.3. Previous deletion mapping has shown that this gene resides between markers DXS1060 and DXS1139, a region encompassing approximately 1.5 Mb of DNA. Analyzing the DNA of 15 males with Xp deletions, we were able to narrow this MRX critical interval to approximately 15 kb of DNA. Only one gene, VCX-A (variably charged, X chromosome mRNA on CRI-S232A), was shown to reside in this interval. Because of a variable number of tandem 30-bp repeats in the VCX-A gene, the size of the predicted protein is 186-226 amino acids. VCX-A belongs to a gene family containing at least four nearly identical paralogues on Xp22.3 (VCX-A, -B, -B1, and -C) and two on Yq11.2 (VCY-D, VCY-E), suggesting that the X and Y copies were created by duplication events. We have found that VCX-A is retained in all patients with normal intelligence and is deleted in all patients with mental retardation. There is no correlation between the presence or absence of VCX-B1, -B, and VCX-C and mental status in our patients. These results suggest that VCX-A is sufficient to maintain normal mental development.

Amino Acid Sequence↗
PubMed2000

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.

Léri-Weill syndrome (LWS) or dyschondrosteosis represents a short stature syndrome characterised by the mesomelic shortening of the forearms and lower legs and by bilateral Madelung deformity of the wrists. Recently, mutations in the pseudoautosomal homeobox gene SHOX have been shown to be causative for this disorder. This gene has previously been described as the short stature gene implicated in Turner syndrome (TS). We studied 32 Léri-Weill patients from 18 different German and Dutch families and present clinical, radiological and molecular data. Phenotypic inter- and intrafamilial heterogeneity is a frequent finding in LWS, and phenotypic manifestations are generally more severe in females. In males, muscular hypertrophy is a frequent finding. To test for SHOX mutations we used FISH, Southern blot and SSCP analysis as well as long-range PCR and sequencing. We identified (sub)microscopic deletions encompassing the SHOX gene region in 10 out of 18 families investigated. Deletion sizes varied between 100 kb and 9 Mb and did not correlate with the severity of the phenotype. We did not detect SHOX mutations in almost half (41%) the LWS families studied, which suggests different genetic etiologies.

Adolescent↗
PubMed2000

Saccharin test of maxillary sinus mucociliary function after endoscopic sinus surgery.

OBJECTIVES: To determine the usefulness of the saccharin time (ST) test for evaluating the mucociliary function of the maxillary sinus after endoscopic sinus surgery (ESS) for chronic sinusitis. STUDY DESIGN METHODS: This study was conducted on 88 maxillary sinuses of 74 patients after ESS. The maxillary sinus fontanel was broadly opened via the middle meatus using an endoscope, and a saccharin granule was adhered to the bottom of the maxillary sinus mucosa The time until the patient recognized the sweet taste was recorded. Before the ST test, the bilateral maxillary sinuses were classified into the following four groups on the basis of the post-ESS severity of mucosal edema and swelling as revealed by endoscopic observation: normal (45 sinuses), mild mucosal edema and swelling (24), moderate mucosal finding (14), and severe mucosal finding or filling of the sinus with a polyp(s) (5). RESULTS: The mean ST values in the normal group and the groups with mild, moderate, and severe mucosal edema and swelling were 35.7, 38.1, 63.6, and 88.0 minutes, respectively. Thus the ST increased with the post-ESS severity of the mucosal lesion. However, for the group with mild mucosal edema and swelling, scanning electron microscopic observation of three maxillary sinuses in which the ST exceeded 120 minutes and four sinuses in which the ST was 40 minutes revealed extensive cilia loss in the former sinuses, but not in the latter. A second post-ESS endoscopic observation was performed in 17 patients, revealing improvement in 11 sinuses, no change in 5 sinuses, and aggravation in 1 sinus (compared with the initial test). The ST test was also repeated, revealing that the ST became shorter in most of the endoscopically improved sinus group. However, a few sinuses showed a discrepancy between the change in the endoscopic findings and the ciliary function (ST). CONCLUSION: Measurement of the maxillary sinus ST is a simple, accurate, and useful technique for assessing the post-ESS mucociliary function in conjunction with endoscopy, and the information gained can help in deciding subsequent therapy.

Adolescent↗
PubMed2000

An epidemiological study of supernumerary primary teeth in Japanese children: a review of racial differences in the prevalence.

OBJECTIVE: To clarify the prevalence of supernumerary primary teeth in Japanese children, we evaluated this prevalence in a sample of 8122 children aged 3-6 years. Furthermore, we undertook a statistical comparison of the findings of the present study with those of previous investigations on the prevalence of supernumerary primary teeth in Japanese, Chinese and Caucasian children. SUBJECTS: The subjects used in the study consisted of 8122 children aged 3-6 years (4102 boys and 4020 girls). The children were examined in kindergartens. METHODS: The prevalence of supernumerary primary teeth was recorded by visual inspection. Statistical analysis was carried out using the chi 2 test. RESULTS: Four cases of supernumerary primary teeth were found among the children examined, and thus the prevalence was 0.05%. All of the supernumerary primary teeth were located in the maxillary lateral incisor area. CONCLUSIONS: The prevalence in a sample of 8122 Japanese children was 0.05% and that in a combined sample of 65,068 Japanese children was 0.06%.

Anodontia↗
PubMed2000

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.

We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between DXS1060 and GS1. By PCR analysis of flanking STS gene markers in our patients we succeeded in narrowing down the locus to between DXS6837 and GS1.

Arylsulfatases↗
PubMed2000

Production and accumulation of thrombospondin-1 in human retinal pigment epithelial cells.

PURPOSE: To investigate the production and release of thrombospondin-1 (TSP-1), a natural inhibitor of angiogenesis, by human retinal pigment epithelial (RPE) cells to clarify the possible role of TSP-1 in maintaining intraocular angiogenesis. METHODS: Human RPE cells were isolated from a human cadaveric eye and cultured in medium with 5% newborn calf serum. TSP-1 messages in the purified RNA of RPE cells were analyzed by reverse transcription-polymerase chain reaction (RT-PCR). Intracellular TSP-1 peptides were detected by cytofluorographic analysis. TSP-1 peptides in the culture medium on RPE cells were measured by sandwich enzyme-linked immunosorbent assay (ELISA). TSP-1 specific immunofluorescent staining was tested in RPE cells cultured on glass slides and in a human retinal tissue specimen. RESULTS: mRNA specific for TSP-1 was found in RT-PCR products from RPE cells, and it showed a time-dependent increase from the beginning of the culture. Intracellular staining for TSP-1 was identified by flow cytometry. The sandwich ELISA identified a time-dependent increase of TSP-1 peptides in the culture medium of RPE cells. Immunostaining for TSP-1 was observed in the cytoplasm of RPE cells cultured on glass slides. Positive immunostaining of TSP-1 was observed in the cytoplasm of the RPE layer in the human retinal tissue specimen. CONCLUSIONS: RPE cells can produce and release TSP-1 in vitro, and TSP-1 accumulates in the cytoplasm of RPE cells in vivo as well as in vitro. The production of TSP-1 by RPE cells is influenced by the state of proliferation and/or cell density. TSP-1 appears to be an important control factor in retinal and choroidal neovascularization.

Antibodies, Monoclonal↗
PubMed1999

Amyloidoma in the gasserian ganglion: case report.

BACKGROUND: Amyloidoma in the central nervous system is extremely rare. We describe a rare case of amyloidoma in the gasserian ganglion manifesting as trigeminal neuropathy. METHODS: A 41-year-old woman was admitted to our hospital with progressive numbness and hypalgesia in the distribution of the second and third divisions of the left trigeminal nerve. There was no evidence of chronic inflammatory disorder or immunological abnormalities. Magnetic resonance images showed a mass in the left Meckel's cave that was brightly enhanced with gadolinium. RESULTS: A reddish, firm mass was successfully removed via a left temporal craniotomy. Histologically, the tumor was composed of larger acellular deposits of eosinophilic material. The acellular deposits were positive for potassium permanganate-resistant Congo red staining, showing apple-green birefringence under polarized light and expression of immunoglobulin lambda light chain-derived proteins (A lambda) immunohistochemically. CONCLUSION: The present case revealed an A lambda amyloidoma in the left gasserian ganglion. Although the incidence is rare, amyloidoma should be suspected in patients who complain of progressive trigeminal neuropathies and show an enhanced lesion in the gasserian ganglion on MR images.

Adult↗
PubMed1999

Brassinosteroid/Sterol synthesis and plant growth as affected by lka and lkb mutations of Pea

The dwarf pea (Pisum sativum) mutants lka and lkb are brassinosteroid (BR) insensitive and deficient, respectively. The dwarf phenotype of the lkb mutant was rescued to wild type by exogenous application of brassinolide and its biosynthetic precursors. Gas chromatography-mass spectrometry analysis of the endogenous sterols in this mutant revealed that it accumulates 24-methylenecholesterol and isofucosterol but is deficient in their hydrogenated products, campesterol and sitosterol. Feeding experiments using 2H-labeled 24-methylenecholesterol indicated that the lkb mutant is unable to isomerize and/or reduce the Delta24(28) double bond. Dwarfism of the lkb mutant is, therefore, due to BR deficiency caused by blocked synthesis of campesterol from 24-methylenecholesterol. The lkb mutation also disrupted sterol composition of the membranes, which, in contrast to those of the wild type, contained isofucosterol as the major sterol and lacked stigmasterol. The lka mutant was not BR deficient, because it accumulated castasterone. Like some gibberellin-insensitive dwarf mutants, overproduction of castasterone in the lka mutant may be ascribed to the lack of a feedback control mechanism due to impaired perception/signal transduction of BRs. The possibility that castasterone is a biologically active BR is discussed.

Journal Article↗
PubMed1999

Endovascular treatment of ruptured dissecting aneurysms aimed at occlusion of the dissected site by using Guglielmi detachable coils.

OBJECT: Surgical or endovascular occlusion of the parent artery proximal to an aneurysm has been recommended for treatment of dissecting aneurysms of the intracranial posterior circulation. However, dissecting aneurysms may rupture even after proximal occlusion because distal progression of thrombus is necessary to occlude the dissecting aneurysm completely, and this may be delayed by the presence of retrograde flow. In this article the authors present their experience in treating six patients with ruptured dissecting aneurysms. METHODS: The authors report on six patients with a ruptured dissecting aneurysm in the posterior fossa who were successfully treated by endovascular occlusion of the aneurysm by using Guglielmi detachable coils. The procedure was particularly aimed at occluding the dissected site. CONCLUSIONS: At the present time, endovascular occlusion of the dissected site is a safe, minimally invasive, and reliable treatment for dissecting aneurysms when a test occlusion is tolerated and adequate collateral circulation is present.

Adult↗
PubMed1998

Effects of surgery on mucosal pathologic changes following experimental sinusitis in rabbit.

In the present investigation, the regenerative capacity of the infected maxillary sinus mucosa following surgical procedures was studied in a rabbit model. Sinusitis was induced by occluding the ostium with and without the addition of Staphylococcus aureus or Bacteroides fragilis, or by provoking a prolonged bacterial infection with both pathogens. The surgical procedures performed were 1) widening of the natural sinus ostium (middle meatal antrostomy; MMA) and 2) removal of sinus mucosa without ostial interference (modified radical operation; MRO). The histologic features of the entire nose-sinus complex were studied, graded semiquantitatively, and compared with findings in untreated sinusitis, or after surgery only. Whereas MMA and MRO both led to a decrease of the inflammatory features of the sinus mucosa in induced sinusitis, persistent local histopathology was observed in the ostial region following MMA surgery. This indicates the importance of local pathologic changes resulting from interactions of bacterial colonization, inflammation, and surgery in chronic sinusitis.

Animals↗
PubMed1997

A fine physical map of Arabidopsis thaliana chromosome 5: construction of a sequence-ready contig map.

A fine physical map of Arabidopsis thaliana chromosome 5 was constructed by ordering the clones from YAC, P1, TAC and BAC libraries of the genome using the sequences of a variety of genetic and EST markers and terminal sequences of clones. The markers used were 88 genetic markers, 13 EST markers, 87 YAC end probes, 100 YAC subclone end probes, and 390 end probes of P1, TAC and BAC clones. The entire genome of chromosome 5, except for the centromeric and telomeric regions, was covered by two large contigs 11.6 Mb and 14.2 Mb long separated by the centromeric region. The minimum tiling path of the chromosome was constituted by a total of 430 P1, TAC and BAC clones. The map information is available at the Web site http://www.kazusa.or.jp/arabi/.

Arabidopsis↗
PubMed1997

Structural analysis of Arabidopsis thaliana chromosome 5. I. Sequence features of the 1.6 Mb regions covered by twenty physically assigned P1 clones.

A total of 20 P1 clones with an average insert size of 80 kb and each containing a marker(s) specifically mapped on chromosome 5 were isolated from a P1 library of the Arabidopsis thaliana genome, and their nucleotide sequences were determined according to a shotgun-based strategy and precisely located on the physical map of chromosome 5 separately constructed. The total length of the sequenced regions were summed up to 1,621,245 bp. By comparison with the sequences in protein and EST databases and analysis with computer programs for gene modeling, a total of 347 potential protein-coding genes and/or gene segments with known or predicted functions were identified. The positions of exons which do not exhibit any similarity to known genes were also predicted. An average density of the genes and/or gene segments assigned so far as 1 gene/4,672 bp. Introns were identified in approximately 78% of the potential genes, and the average number and length of the introns per gene were 3.7 and 161 bp. The transcription level of the predicted genes was roughly monitored by counting the numbers of identified Arabidopsis ESTs. The sequence data and gene information are available through the World Wide Web at http:/(/)www.kazusa.or.jp/arabi/.

Arabidopsis↗
PubMed1997

FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes.

Deletions of the pseudoautosomal region (PAR1) of the sex chromosomes have recently been discovered in individuals with short stature, and a minimal common deletion region of 700 kb within PAR1 has subsequently been defined. We have cloned this entire region, which is bounded by the Xp/Yp telomere, as an overlapping cosmid contig. In the present study, we have used fluorescence in situ hybridization (FISH) to study four patients with X-chromosomal rearrangements, two with normal height and two with short stature. Genotype-phenotype correlations have narrowed down the the critical "short stature interval" to a 270-kb region containing the gene with an important role in growth. A minimal tiling path of 6-8 cosmids bridging this interval is now available for interphase and metaphase FISH and provides a valuable tool for diagnostic investigations of patients with idiopathic short stature.

Adolescent↗
PubMed1997

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.

Growth retardation resulting in short stature is a major concern for parents and due to its great variety of causes, a complex diagnostic challenge for clinicians. A major locus involved in linear growth has been implicated within the pseudoautosomal region (PAR1) of the human sex chromosomes. We have determined an interval of 170 kb of DNA within PAR1 which was deleted in 36 individuals with short stature and different rearrangements on Xp22 or Yp11.3. This deletion was not detected in any of the relatives with normal stature or in a further 30 individuals with rearrangements on Xp22 or Yp11.3 with normal height. We have isolated a homeobox-containing gene (SHOX) from this region, which has at least two alternatively spliced forms, encoding proteins with different patterns of expression. We also identified one functionally significant SHOX mutation by screening 91 individuals with idiopathic short stature. Our data suggest an involvement of SHOX in idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients.

Adolescent↗
PubMed1996

Experimentally induced polyps in the sinus mucosa: a structural analysis of the initial stages.

To document polyp formation in the sinus mucosa, the authors of this study subjected New Zealand white rabbits to different modes of manipulation intended to induce inflammation of the maxillary sinus. These manipulations included a combination of bacterial infection and mechanical trauma, the deposition of agarose into the sinus cavity, and the deposition of N-formyl-methionyl-leucyl-phenylalanine, a chemotactic peptide, into the sinus cavity. A majority of animals developed polyps, which were examined by light and electron microscopy. Polyp formation appears to involve epithelial disruption and the migration of immature branching epithelium. While part of the migrating epithelium eventually covers the mucosal defect, other branches spread into the underlying connective tissue, where intraepithelial microcavities with a differentiated, ciliated lining are formed. Fusing cavities separate the developing polyp body from the adjacent mucosa. With the described method, mucosal polyps can be induced with high reproducibility.

Animals↗
PubMed1996

Effect of oxymetazoline nose drops on acute sinusitis in the rabbit.

This investigation was designed to evaluate the effect of the common topical nasal decongestant oxymetazoline hydrochloride on the early local tissue defense in an experimental bacterial infection. For that purpose, a bilateral infection of the maxillary sinus was induced in 14 rabbits. Nose drops (oxymetazoline) were instilled in one nasal cavity, and placebo in the other. After 48 hours, the degree of infection was judged by using a semiquantitative inflammatory score to evaluate histologic preparations of the maxillary sinuses. On the oxymetazoline-treated side, we found a significantly higher degree of inflammation. We conclude that oxymetazoline nose drops, commonly used in acute rhinitis and sinusitis, interfere with the normal defense mechanisms during bacterially induced sinusitis, possibly by a decrease in mucosal blood flow.

Acute Disease↗