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A 12-year-old boy was first seen with the chief complaint of reverse occlusion. His records allowed a class III malocclusion, crown fracture of 1 angle and -1.1 degrees angle SN to FH. Therefore, we corrected angle SN to FH from -1.1 degrees to 7 degrees and treated him with intermaxillary anchorage appliance and by the edgewise method.
The properties of dental cyanoacrylate cement "FH", which has protective and bacteriostatic effect on dental pulp, were compared with that of glass-ionomer cement. The operational properties such as setting time and consistency were good, but the mechanical properties as dental cement were a little inferior. These properties were affected definitely by temperature and humidity than the glass-ionomer cement, especially the influence of humidity was very high. However, the influence on bond strength was almost nothing, especially in the early period of setting. The factors affecting it could be very low disintegration. The bond strength for dentin after 24 hours the start of mixing of FH cement was much higher than that for enamel, but the strength rapidly decreased by thermal cycling between 4 degrees C and 50 degrees C in water.
In the previous study (Shikwa Gakuho, 85: 413-451, 1985.), Morinaga reported on the histopathology of furcation perforations treated with ethyl cyanoacrylate and showed that, because of its properties, this material cannot be expected to effect a permanent blockade. It did not, however, irritate the wound. The purpose of this study is to investigate the effects of a new cyanoacrylate cement (FH Cement) when applied to furcation perforations. Subjects were 25 mandibular and maxilla premolars and molars obtained from 3 adult dogs. The method used in the study was as follows. After administration of pentobarbital-sodium general anesthesia, the pulp chamber was opened by means of a high-speed air turbine fitted with a diamond point. According to usual procedures, the pulp was removed, and the main root canal was filled. Next the floor of the pulp chamber was deliberately perforated by means of a 1mm round bur that had been previously sterilized in advance pouring a physiological sodium chloride solution at the same time. The perforated areas were then washed with a same solution, wiped, and dried with aseptic cotton pellets. They were then stuffed with cyanoacrylate cement. The cavity was lined with gutta-percha temporary stopping, and the remainder of the cavity was filled with silver amalgam. At periods of 1, 2, 4, 8 and 12 weeks after the operation, the animals were sacrificed by means of electricity under general anesthesia. The jaw bones were removed, fixed, decalcified, and embedded in celloidin. Longitudinal sections were stained with hematoxylin-eosin. Results 1. Periodontal tissues around perforated sites were healed by means of scar tissue, though suppuration occurred in a few cases. 2. Hard tissue was appended to the teeth in a small number of cases. 3. Repair of the alveolar bone was observed in the damaged site in about half of all cases. From the result mentioned above, cyanoacrylate cement (FH Cement) was seemed to did not close the site perforation for it self, but was not a stimulant to wound, in case of appropriate blockade.
Two hundred thirty-four unrelated heterozygotes for familial hypercholesterolemia (FH) were screened to detect major rearrangements in the low-density-lipoprotein (LDL) receptor gene. Total genomic DNA was analyzed by Southern blot hybridization to probes encompassing exons 1-18 of the LDL receptor gene. Six different mutations were detected and characterized by the use of exon-specific probes and detailed restriction mapping. Each mutation is unique and suggests that molecular heterogeneity underlies the molecular pathology of FH. There appear to be preferential sites within the LDL receptor gene for major rearrangements resulting in deletions.
The anticancer effect and side effect of 1-(2-Tetrahydrofuryl)-5-fluorouracil (FH Fine granules "MI-TSUI") plus 5-FU Dry Syrup combination therapy was evaluated in 24 patients with cancer of the digestive organs. In this study, it was suggested that the daily oral administration of 400mg of FH Fine granules combined with 100mg of 5-FU Dry Syrup is most adequate and effective among them.
A novel mutation of low density lipoprotein (LDL)-receptor gene was found in an Italian family hypercholesterolemia (FH) patient during a screening of 300 FH patients. The proband as well as her daughter were found to be heterozygotes for the mutation. Binding, internalization, and degradation of 125I-labeled LDL by the proband's fibroblasts were reduced to approximately 50% compared to values found in control cells. DNA analysis by Southern blotting showed that the mutant allele was characterized by an insertion of about 10 kb, which resulted from a duplication of exons 9-14 of the LDL-receptor gene. In addition, Northern blot analysis of the proband's RNA showed, besides the normal sized LDL-receptor mRNA (5.3 kb), an additional mRNA of about 6.2 kb. The junction between exon 14 and the duplicated exon 9 was amplified by polymerase chain reaction (PCR) from the cDNA. The sequence of the amplified fragment showed that exon 14 joined the duplicated exon 9 without changing the reading frame. The derived amino acid sequence indicated that the mutated receptor protein had a partial duplication of the EGF precursor homology domain. Ligand and immunoblotting revealed that proband's fibroblasts contained one-half of the normal amount of LDL-receptor protein (molecular mass 130 kDa) and an abnormally large receptor of approximately 160 kDa. The amount of this abnormal receptor as detected by two monoclonal antibodies (10A2 and 4B3) was found to be approximately 30% that of the normal LDL-receptor present in the same cells.(ABSTRACT TRUNCATED AT 250 WORDS)
A two-year-old African American boy presented with cutaneous xanthomata and extreme hypercholesterolemia. Subsequent studies revealed that the LDL-cholesterol was 1,001 mg/dl and apoB 507 mg/dl. LDL-receptor activity was almost undetectable, which is compatible with the finding of two newly described defective alleles on exon 4 of the LDL-receptor gene coding for part of the ligand-binding domain. One allele contained a 21 base-pair insertion from codon 200 to 207 whereas the other had a point mutation at codon 207. The rarity of genes for FH reported in individuals of African ancestry is discussed.
Analysis of family history and family study diagnoses of major affective disorder in 4806 relatives of affectively ill probands from the NIMH Collaborative Study of the Psychobiology of Depression (Clinical) suggests that rates of disorder in uninterviewed relatives are greatly underestimated by family history. The implications of these underestimates for family and genetics analyses using the family history method are discussed, and other estimates are developed that have better statistical properties. Using the Model Based Direct Adjustment method, the rate of major affective disorder in all relatives (interviewed and uninterviewed) is estimated to be 32%, compared to 25% by the consensus (standard) method, which uses the Family History-RDC interview with one or more family members to make diagnoses on all uninterviewed relatives. This difference (over ten standard errors) is due to the much higher rate of illness estimated for the uninterviewed relatives (28% compared to 14%). Analysis of the sources of insensitivity of the FH-RDC is used to explain the difference between observed and imputed diagnosis rates.
We describe the characterization of a novel mutation in the low density lipoprotein receptor (LDL-R) gene in a patient with true homozygous familial hypercholesterolemia (FH). The combined use of denaturing gradient gel electrophoresis (DGGE) and sequencing of genomic DNA revealed a guanine to adenine base substitution at nucleotide position 1013 of the LDL-R cDNA. This point mutation results in a change from cysteine to tyrosine at amino acid residue 317 of repeat A of the epidermal growth factor (EGF) precursor homology domain. Binding, uptake and degradation of iodinated LDL in skin fibroblasts from the homozygous patient were less than 10% of normal. In contrast, binding, uptake and degradation of iodinated VLDL was reduced by only 60, 30, and 38%, respectively. Incubation of the patient's fibroblasts in the presence of cholesterol diminished the residual binding of VLDL by 50%, suggesting that the loss of the highly conserved cysteine at position 317 results in a LDL-R that fails to bind LDL, but retains some ability to bind VLDL by interacting with the apolipoprotein E. Both parents were heterozygous for the C317Y mutation. Interestingly, however, the father presented with markedly elevated levels of triglycerides and VLDL cholesterol, whereas his LDL cholesterol was unexpectedly low. The mother of the index patient had only slightly elevated LDL cholesterol. These observations testify to the biological complexity of genotype-environment interactions in individuals carrying mutations at the LDL-R locus and indicate that genetic analysis importantly complements the clinical and biochemical diagnosis of patients with hyperlipidemia.
The FH proteins, defined by the presence of 'formin homology' regions, are important for a number of actin-dependent processes, including polarized cell growth and cytokinesis. They are large, probably multi-domain, proteins and their function may be in part mediated by an interaction with profilin.
Uterine leiomyomata (fibroids) are common and clinically important tumors, but little is known about their etiology and pathogenesis. We previously mapped a gene that predisposes to multiple fibroids, cutaneous leiomyomata and renal cell carcinoma to chromosome 1q42.3-q43 (refs 4-6). Here we show, through a combination of mapping critical recombinants, identifying individuals with germline mutations and screening known and predicted transcripts, that this gene encodes fumarate hydratase, an enzyme of the tricarboxylic acid cycle. Leiomyomatosis-associated mutations are predicted to result in absent or truncated protein, or substitutions or deletions of highly conserved amino acids. Activity of fumarate hydratase is reduced in lymphoblastoid cells from individuals with leiomyomatosis. This enzyme acts as a tumor suppressor in familial leiomyomata, and its measured activity is very low or absent in tumors from individuals with leiomyomatosis. Mutations in FH also occur in the recessive condition fumarate hydratase deficiency, and some parents of people with this condition are susceptible to leiomyomata. Thus, heterozygous and homozygous or compound heterozygous mutants have very different clinical phenotypes. Our results provide clues to the pathogenesis of fibroids and emphasize the importance of mutations of housekeeping and mitochondrial proteins in the pathogenesis of common types of tumor.
Proteins containing formin homology domains, FH1 and FH2, are involved in cytokinesis or establishment of cell polarity in a variety of organisms. Bni1p and Bnr1p are FH proteins and potential targets of the Rho family small GTP-binding proteins in S. cerevisiae. We have shown that Bnr1p is localized at the bud neck to interact with Hof1p, involved in cytokinesis. We report here that the overexpression of BNR1 causes a cytokinesis deficiency which is similar to the phenotypes of the septin mutants, including cdc3, cdc10, cdc11, and cdc12. The region required for the septin mutant phenotypes was mapped to Bnr1p (35-500), which coincided with the region required for the bud-neck localization. To further isolate a gene interacting with BNI1 or BNR1, a multicopy suppressor of the bni1 bnr1 mutant was isolated. This gene encoded Smy1p, a kinesin-related protein. Bnr1p, but not Bni1p, directly interacted with the C-terminal region of Smy1p. The Smy1p-interacting region of Bnr1p was mapped to a region containing the FH2 domain. Bnr1p also directly interacted with Bud6p, a novel actin-binding protein. Bnr1p is thus a multifunctional protein which interacts with the septin system, a microtubule-dependent motor protein, and the actin system, to regulate cytoskeletal functions in S. cerevisiae.
We have identified a rare mutation (T-45C) in the low density lipoprotein (LDL)-receptor gene in a Welsh patient with a clinical diagnosis of heterozygous familial hypercholesterolaemia (FH). The mutation is in the proximal Sp1 binding site in repeat 3 of the 42 bp region of the promoter required for sterol-dependent regulation of transcription, but the substituted nucleotide is not a strongly conserved base in the consensus sequence for Sp1 binding. Normal and mutant promoter fragments (from base -600 to -5) were linked to a luciferase reporter gene, and transient expression in COS cells showed that the mutation reduced transcriptional activity to approximately 43% of normal in the presence, and 25% in the absence of sterols in the medium. Competitive gel-shift mobility assays showed that the mutation reduced the binding affinity for transcription factor Sp1. Analysis of a neutral polymorphism in the LDL-receptor mRNA from the patient's lymphoblasts showed that expression of one allele was reduced. Since Southern blotting of genomic DNA and sequencing of the entire coding region of the LDL-R gene did not reveal any other potential defects, we infer that the T-45 C mutation is the underlying cause of hypercholesterolaemia in the proband.
A minisatellite sequence in the first intron of the rat renin gene showed five-allelic polymorphism in 11 inbred rat strains. A new allelic variant, which was thought to be generated in the germ line, was observed in 136 animals of two sets of backcross progenies originating from parental strains with different alleles. These facts suggested that the minisatellite is genetically unstable. A linkage analysis using the backcross progenies confirmed the assignment of renin locus (REN) on linkage group (LG) X at a site between FH (fumarate hydratase) and PEPC (peptidase) loci. Fluorescence in situ hybridization allowed mapping of the renin gene on rat chromosome 13q13.
A case of bronchogenic cyst of the right lung in a 30-year-old woman who had elevated serum type 1 chain related carbohydrate antigens defined by the three monoclonal antibodies, CA19-9, CA50 and FH-7, is reported. The mucinous fluid from the cystic lesion contained extraordinary high antigen levels, and immunohistochemistry revealed CA19-9 to be highly positive in the cystic wall and cyst fluid. Antigen levels returned to their normal ranges after a right lower lobectomy. This represents a rare case of bronchogenic cyst with abnormal increases in the respective carbohydrate antigens.
Using cDNA probes for Factor H (FH) and C4 binding protein (C4BP) on a panel of somatic cell hybrids, we show that both of these genes map to the long arm of chromosome 1.
Two loci located on human chromosome 1 were mapped in cattle by means of interspecific (hamster x cattle) somatic cell hybridization. FH is assigned to the U1 synteny group together with PGD, ENO1, AT3, and REN, while PEPC is found to belong to the U17 group (chromosome 8), like FN1, CRYG, and VIL1.
The native and oxidized alpha-amylase inhibitor Z-2685, isolated from the culture medium of Streptomyces parvullus FH-1641, and its overlapping cleavage products were degraded by the automatic Edman technique. Digestion was carried out with pepsin, thermolysin and trypsin. The alpha-amylase inhibitor is a polypeptide consisting of 76 amino acids with a molecular mass of 8 129 Da. With the exception of methionine and lysine, all naturally occurring amino acids are present. It is interesting that identical regions exist, in particular the sequence Trp-Arg-Tyr common to all four known microbial inhibitor sequences. We believe that the side chains of these three amino acids are important for interacting with the alpha-amylase molecule. Computer alignment enabled us to show a possible binding region in the alpha-amylase molecule which might react with the inhibitors. Furthermore, homology exists to mammalian alpha-amylases. This result is explained by the assumption that the inhibitor evolved from a duplication of the original gene of the enzyme.