[Albright hereditary osteodystrophy].
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Abnormalities, Multiple↗
Biomedical subjects
T Tohma
Publications and source records attributed to T Tohma.
[Acrodysostosis].
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Abnormalities, Multiple↗
Two sisters with Toriello-Carey syndrome.
Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormally shaped ears, cardiac defect, and hypotonia. We describe two Japanese sisters with a Toriello-Carey syndrome whose phenotypes were as severe as reported male cases. The younger sister died suddenly at age 4 months. Our patients with a severe phenotype and possible parental consanguinity suggest autosomal recessive inheritance of Toriello-Carey syndrome.
Abnormalities, Multiple↗
[Apical hypertrophic cardiomyopathy followed by midventricular obstruction and apical aneurysm: a case report].
A 72-year-old man presented with apical hypertrophic cardiomyopathy followed by midventricular obstruction and apical aneurysm. Doppler echocardiography revealed an abnormal blood flow from the apical aneurysm to the left ventricular outflow through the obstructive lesion during diastole. Myocardial perfusion scintigraphy showed no ischemic change in the apex. This case suggests that apical aneurysm may not be caused by ischemia, although previous reports showed ischemic degeneration or fibrosis may be a cause of an apical aneurysm.
Aged↗
[Reevaluation and potential therapeutic effects of estrogen therapy to prostate cancer patients].
Survival time of 65 patients with stage D2 prostate cancer who were treated by estrogen with or without antiplatelet drugs was examined. Survival time of 37 patients with antiplatelet drugs was significantly longer than that of 28 histological control ones. The frequency of death of cardiovascular disease in the former group decreased to 5.3%. Next, progression free time of the 37 patients was compared to the time of 37 patients treated by antiandrogen therapy. The former one was better than the latter. However, survival time after relapse of the estrogen group was shorter than the control. These results suggest that estrogen therapy improved by a combination of antiplatelet drugs has to be reevaluated and contains specific therapeutic effects differing from antiandrogen therapy.
Antineoplastic Agents, Hormonal↗
Synthesis and structure-activity relationships of carboxylated chalcones: a novel series of CysLT1 (LTD4) receptor antagonists.
The synthesis and CysLT1 antagonistic activities of a new series of 2-, 3-, and 4-(2-quinolinylmethoxy)- and 3- and 4-[2-(2-quinolinyl)ethenyl]-substituted, 2'-, 3'-, 4'-, or 5'-carboxylated chalcones are described. Structure-activity relationship studies indicate a preference for the presence of a negatively charged (acidic) moiety, although in some cases nitrile or ester analogues also exhibit moderate activity. The quinoline moiety may be substituted at either the 3- or the 4-position. Replacement of this heterocycle by other aromatic groups results in compounds with comparable affinities [2-(7-chloroquinoline), 1-(1-methyl-2-benzimidazole), or 1-(2-benzothiazole)] or substantially lower activities [1-(1-ethoxyethyl)-2-benzimidazole, 2-naphthyl, or phenyl]. The quinoline and chalcone moieties may be connected by either an ethenyl or a methoxy spacer. The acidic moiety at the chalcone B ring may be attached to the 2'-, 3'-, 4'-, or 5'-position, for both the 3- and 4-substituted chalcones. There are no general patterns to specify which substitution positions gave the most potent compounds. The series contains several potent CysLT1 receptor antagonists, with K(D) values approaching the nanomolar range, as measured by the displacement of [3H]LTD4 from guinea pig lung membranes. Antagonism of LTD4-induced contraction of guinea pig ileum, the inhibition of antigen-induced contraction of guinea pig trachea in vitro, and the inhibition of LTD4-induced increase of vascular permeability in vivo are determined for chalcones with high CysLT1 receptor affinities (K(D) values below 0.1 microM). 2'-Hydroxy-4-(2-quinolinylmethoxy)-5'-(5-tetrazolyl)chalcone (14, VUF 4819) showed good activity in both in vitro and in vivo assays and has been selected for further evaluation.
Animals↗
Megalocornea-mental retardation syndrome: an additional case report.
We report here on a Japanese male infant with megalocornea-mental retardation (MMR) syndrome. He had megalocornea (corneal diameter: 13 mm) without glaucoma, developmental retardation, hypotonia, frontal bossing, high-arched palate, carp-like mouth, micrognathia, and delayed myelination. He seems to be included in Verloes type of the MMR syndrome.
Abnormalities, Multiple↗
Characterization of marker chromosomes by fish using microdissected probes from old Carnoy-fixed cells: report of two cases.
We reported on two patients with a de novo marker chromosome of which the origins were successfully identified by FISH using microdissected probes. These probes were established by microdissections of extra chromosomal segments from Carnoy-fixed cells stored at -20 degrees C for several years. Using these probes, we could verify partial 1q32 trisomy in a patient with 17p+ as well as partial 16q2 trisomy in another patient with 4p+.
Abnormalities, Multiple↗
[Clonal analysis by fluorescence in situ hybridization in a patient with de nove acute myeloid leukemia with myelodysplasia].
A 12-year-old girl presenting leukocytosis, anemia and thrombocytopenia was diagnosed as de nove acute myeloid leukemia (AML, M2) with concurrent myelodysplastic features in myeloid and erythroid cells. Her karyotype was defined as 47, XX, +8[20]. Though she was treated successfully with multi-drug chemotherapy, she relapsed after 2 years of remission. A bone marrow transplantation from HLA matched her brother was performed to induce hematological remission which persisted for one year. She again relapsed with AML with myelodysplasia, and an abnormal complex karyotype was newly detected. She eventually died without further chemotherapy. We performed FISH on the patient's stained bone marrow smears using DNA probes for chromosome 8 and Y to analyze the clonality. The results showed that the most of blasts and bone marrow cells except lymphoid cells were of trisomy 8 at onset, while in the 1st remission, trisomy 8 clone was slightly detected only in monocytes. At 1st and 2nd relapse, trisomy 8 clone was detected again in most of myeloid cells. Thus, in this case, it was considered that underlying stem cell disorder with trisomy 8 during the entire disease course contributed to leukemogenesis.
Acute Disease↗
Small interstitial deletion of the long arm of chromosome 2 (2q24.3): further delineation of 2q medial monosomy syndrome.
We report on a female infant with an interstitial deletion involving 2q24.3. She had multiple congenital anomalies similar to those in patients with del(2)(q31q33) except for an occipital encephalocele. As a result of comparison of clinical findings among interstitial 2q deletions, a distinct 2q medial monosomy syndrome may be delineable in association with a deletion of 2q31.
Adult↗
Delineation of the da-Silva syndrome.
We present a 6-month-old boy with agenesis of the corpus callosum, hypertonicity, severe growth and psychomotor retardation, microcephaly, large prominent ears, and delayed bone age. Similarity of his manifestations to these in 3 sibs described by da-Silva in 1988 suggests initial delineation of the da-Silva syndrome.
Abnormalities, Multiple↗
Inverted insertion of chromosome 7q and ectrodactyly.
An inverted insertion of a segment 7q22-q34 into 3q21 was found in a mentally normal male infant with ectrodactyly of a hand and the feet. A putative gene for ectrodactyly seems to be assigned at 7q22.
Chromosome Aberrations↗
The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting.
De novo chromosome structural abnormalities cannot always be diagnosed by the use of standard cytogenetic techniques. We applied a previously developed chromosome-band-specific painting method to the diagnosis of such rearrangements. The diagnostic procedures consisted of microdissection of an aberrant chromosomal region of a given patient, polymerase chain reaction (PCR) amplification of the dissected chromosomal DNA, and subsequent competitive fluorescence in situ hybridization (FISH) using the PCR products as a probe pool on metaphase chromosomes from the patient and/or a karyotypically normal person. With this strategy, we studied 6 de novo rearrangements (6p+, 6q+, 9p+, 17p+, +mar, and +mar) in 6 patients. These rearrangements had been seen by conventional banding but their origin could not be identified. In all 6 patients, we successfully ascertained the origin. Using an aberrant region-specific probe pool, FISH signals appeared on both the aberrant region and a region of another specific chromosome pair. A reverse probe pool that was generated through the microdissection of normal chromosomes at a candidate region for the origin of the aberration hybridized with both the aberrant and the candidate regions. We thus diagnosed one patient with 17p+ as having trisomy for 14q32-qter, one with 9p+ as having trisomy for 12pter-p12, one with 6q+ as having a tandem duplication (trisomy) of a 6q23-q25 segment, one with 6p+ as having a tandem duplication (trisomy) of a 6p23-q21.3 segment, one with a supernumerary metacentric marker chromosome as having tetrasomy for 18pter-cen, and the last with an additional small marker chromosome as having trisomy for 18p11.1 (or p11.2)-q11.2. The present targeted chromosome-band-painting method provides the simple and rapid preparation of a probe pool for region-specific FISH, and is useful for the diagnosis of chromosome abnormalities of unknown origin.
Base Sequence↗
Cosmid clones from microdissected human chromosomal region 15q11-q13.
A human chromosomal region, 15q11-q13, was microdissected, its DNA was amplified with the primer-linker PCR method, and the PCR products were cloned into a plasmid vector to construct a microclone library. Of 193 microclones analyzed with Southern blot hybridization on hybrid cell panels, 26 (13.5%) were either single-copy (unique) or low-repetitive fragments. By screening of a cosmid library of human genomic DNA using the 26 microclones as probes, 47 positive cosmids were obtained and underwent regional mapping with chromosome fluorescence in situ hybridization (FISH). Sixteen cosmids gave FISH signals at 15p-cen, 5 at 15q11-q13, 6 at 15q22-q26, 3 at other chromosomes, and 17 no signal. These 27 cosmids mapped to chromosome 15 are useful additions to the inventory of DNA markers of this chromosome including the much interested Prader-Willi/Angelman syndrome region.
Base Sequence↗
The Costello syndrome: a boy with thick mitral valves and arrhythmias.
A 3-year-old boy with Costello syndrome is reported. He had typical clinical features of the syndrome including severe postnatal growth retardation, poor sucking, mild developmental delay, a coarse characteristic facies, thick and loose skin of the hands and feet, sparse and curly hair, dark skin, and relative macrocephaly but lacked nasal papillomas. In addition, he had cardiac anomalies with extrasystoles and thick mitral valve tips. Mitral valve defects may be a clinical feature of the syndrome.
Abnormalities, Multiple↗
cDNA cloning, expression, and chromosomal localization of human N-acetylglucosaminyltransferase III (GnT-III).
UDP-N-acetylglucosamine:beta-D-mannoside beta 1,4 N-acetylglucosaminyltransferase III (GnT-III) [EC 2.4.1.144] catalyzes the addition of N-acetylglucosamine in beta 1-4 linkage to the beta-linked mannose of the trimannosyl core of N-linked sugar chains to produce a bisecting GlcNAc residue. We have isolated six independent cDNA clones of human GnT-III from a fetal liver cDNA library. The cDNA sequence has an open reading frame that predicts a protein of 531 amino acids. The homology to rat GnT-III is 86% at the nucleotide level and is 91% at the amino acid level. The amino-terminal transmembrane domain and the catalytic domain are well conserved in the two species. Human GnT-III has a deletion of four amino acids in the "neck" region and several differences in the COOH-terminal region compared with the rat sequence. Using one of the human cDNA clones as the probe, two overlapping genomic clones have been isolated from a human cosmid library. The GnT-III gene has been mapped to chromosome 22q.13.1 using fluorescence in situ hybridization.
Amino Acid Sequence↗
Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome.
An 11-year-old girl with de novo r(15) (p12q26.3) with a clinical diagnosis of Silver-Russell syndrome (SRS) is presented. She had prenatal and postnatal growth deficiency with a severe short stature, peculiar facies characterized by a triangular face, a pinched nose with anteverted nostrils and down-turned corners of the mouth, bilateral clinodactyly of the fifth fingers, café-au-lait nevi, mental retardation, and a high level of serum follicular stimulating hormone. Southern blot analysis and chromosome fluorescence in situ hybridization revealed a deletion of the insulin-like growth factor 1 receptor gene (IGF1R) in the patient, the result indicating that IGF1R is assigned to 15q26.3. The deleted segment in our patient and comparisons with those of other reported cases of 15q-suggest that one of the putative SRS loci is at 15q26.3.
Abnormalities, Multiple↗
[Clinical assessments on pre-treatment prognostic factors in 138 patients with advanced prostatic carcinoma (stage D2)].
We investigated the prognostic factors in 138 patients with stage D2 prostatic cancer by univariate and multivariate analyses. Analysis was restricted to 8 pre-treatment parameters, that is, age, general condition (PS), pain, number of metastases on bone scan, acid phosphatase value, Gleason's primary pattern, secondary pattern, and nucleoli grading. In addition, 4 therapeutic modalities except routine endocrine therapy, that is, castration, oral administration of estramustine phosphate, of 5-fluorouracil (5-FU) or its analogue, and combination chemotherapy, during the whole treatment period were included in the analysis. Univariate analysis (Kaplan-Meier method) showed only PS to be a significant prognostic factor. Multivariate analysis (Cox's proportional hazard model) revealed that PS, Gleason's primary pattern, oral administration of 5-FU or its analogue and combination chemotherapy were significant prognostic factors. However, patients treated by combination chemotherapy had poorer prognosis and chi 2 values of combination chemotherapy was the highest among the four parameters cited above. These results suggested that the 8 pre-treatment parameters examined in this study were not sufficient for predicting the prognosis of each patient.
Acid Phosphatase↗