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Biomedical subjects

M Tsukahara

Publications and source records attributed to M Tsukahara.

At least 19 recordsLinked to original sources
PubMed2001

No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients.

Silver-Russell syndrome (SRS) is characterized by prenatal and postnatal growth retardation with morphologic anomalies. Maternal uniparental disomy 7 has been reported in some SRS patients. PEG1/MEST is an imprinted gene on chromosome 7q32 that is expressed only from the paternal allele and is a candidate gene for SRS. To clarify its biological function and role in SRS, we screened PEG1/MEST abnormalities in 15 SRS patients from various standpoints. In the lymphocytes of SRS patients, no aberrant expression patterns of two splice variants (alpha and beta) of PEG1/MEST were detected when they were compared with normal samples. Direct sequence analysis failed to detect any mutations in the PEG1/MEST alpha coding region, and there were no significant mutations in the 5'-flanking upstream region containing the predicted promoter and the highly conserved human/mouse genomic region. Differential methylation patterns of the CpG island for PEG1/MEST alpha were normally maintained and resulted in the same pattern as in the normal control, suggesting that there was no loss of imprinting. These findings suggest that PEG1/MEST can be excluded as a major determinant of SRS.

5' Flanking Region↗
PubMed2001

Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl.

We report on an 11-year-old Japanese girl with combined immunodeficiency and chromosomal instability. She had postnatal growth deficiency and microcephaly, preaxial polydactyly of the left hand, and susceptibility to infections. Immunological studies showed marked lymphocytopenia (around 500/ll), reduced lymphocyte response to various mitogens, and reduced or absent serum IgA, IgG, and IgM. Cell biological studies of her primary skin fibroblasts demonstrated spontaneous chromosome aberrations and radiation hypersensitivity. The combination of immunodeficiency, chromosomal instability, and radiation hypersensitivity as seen in the girl is present in both ataxia-telangiectasia and Nijmegen breakage syndrome. Ataxia-telangiectasia was excluded because of differences in clinical features and laboratory data. Likewise, Nijmegen breakage syndrome is unlikely to be the case because the characteristic face, hyperpigmented spots, and mental retardation present in the syndrome were missing in the girl. Sequence analysis of a Nijmegen breakage syndrome responsible gene, NBS1, revealed no mutations. A normal NBS1 product was also demonstrated by immunoblot analysis using an anti-NBS1 antibody. We propose that the disorder in the girl represents a new combination of combined immunodeficiency and chromosomal instability.

Child↗
PubMed2001

Familial Del(18p) syndrome.

We report on sibs and their mother, all with del(18p). The propositus, an 11-month-old, had developmental delay, round face, hypertelorism, large ears, broad nasal bridge, upturned nostrils, micrognathia, a high palate, redundant skin around the neck, micropenis, and cryptorchidism. The elder sister, a two and 7/12-year-old, had round face, hypertelorism, broad nasal bridge, narrow and high palate, redundant skin around the neck, short fingers, and hypoplastic genitalia. Their mother had microcephaly, hypertelorism, prominent columella, broad nasal bridge, wide mouth, high palate, malaligned teeth, and clinodactyly of the fifth fingers. Serial photographs of the mother showed that the characteristic round face in infancy changed to long face with age. The present report suggests that the mother with del(18p) may be fertile, and proper genetic counseling and long follow-up is necessary for the patient with del(18p) syndrome.

Abnormalities, Multiple↗
PubMed2001

A novel putative transmembrane protein, IZP6, is expressed in neural cells during embryogenesis.

Gene trapping in mouse embryonic stem cells is an efficient method for identifying new genes and examining their functions. This method has been used in an effort to identify some novel genes involved in mouse development. In the present paper, one such gene named IZP6 is reported. Expression of the IZP6 gene, as monitored by beta-galactosidase expression in heterozygous mice, was detected in a developmentally regulated fashion: the expression pattern has two phases during the embryogenesis. In the first phase, from embryonic day 11.5 (E11.5) until E14.5, the reporter gene is mainly expressed in the forebrain. In the second phase, from E15.5 until birth, expression in the forebrain becomes weaker but is still observed in the olfactory bulb and the skin around the eyes, nose, limbs and tail. Thus, IZP6 gene expression changes from the central nervous system (the first phase) to the peripheral tissues (the second phase) during development. The IZP6 gene encodes a protein of 228 amino acids. Analysis of the secondary structure of the IZP6 protein revealed four hydrophobic regions, indicating that the IZP6 protein is a four transmembrane region protein. These results suggest that IZP6 is a transmembrane protein related to neurogenesis in the mouse.

Amino Acid Sequence↗
PubMed2001

Giant hepatic granuloma caused by Bartonella henselae.

We report a 10-year-old girl with a 3.0- by 3.5-cm giant hepatic granuloma caused by Bartonella henselae. Such a solitary and large granuloma associated with B. henselae infection has not been previously reported. We believe that B. henselae infection is a consideration in the differential diagnosis of a large hepatic mass.

Bartonella Infections↗
PubMed2001

[Bartonella henselae infection in domestic cat and dog fleas].

We studied on the infection of domestic cat and dog fleas with Bartonella henselae by polymerase chain reaction (PCR). A total of 62 fleas (36 Ctenocephalidis felis from cats, 24 C. felis from dogs and 2 Ctenocephalidis canis from dogs), stored in 70% ethanol, were analyzed by PCR for B. henselae specific DNA. Of the 62 fleas, C. felis from cats and dogs were positive for B. henselae specific DNA in 12 of the 36 (33.3%) and in 5 of the 24 (20.8%), respectively, and C. canis from dogs was positive in 2 of the 2 (100%). Our results demonstrated that pet fleas were infected with B. henselae, and suggest that flea transmission of B. henselae between cats or dogs may occur, and direct transmission of B. henselae from pet fleas to human may cause cat scratch disease.

Animals↗
PubMed2001

[Serological cross-reaction among Bartonella henselae, Chlamydia pneumoniae and Coxiella burnetii by indirect fluorescence antibody method].

We studied the serological cross-reactions among Bartonella henselae, Chlamydia pneumoniae and Coxiella burnetii by indirect fluorescence antibody (IFA) method, using sera from 8 patients with cat scratch disease (CSD), 13 patients with C. pneumoniae infection and 12 patients with acute Q fever. B. henselae IgG antibody was negative in 13 patients with C. pneumoniae infection, and was positive in 3 (titers being 1:64) of 12 patients with Q fever, whereas B. henselae IgM antibody was negative in all the patients with C. pneumoniae infection or Q fever. C. burnetii IgG antibody was removed by absorption of these 3 sera with C. burnetii antigens, whereas B. henselae IgG antibody did not change. C. pneumoniae IgG antibody was positive in 3 (titers being 1:125 in two, 1:32 in one) of 8 patients with CSD. Both C. pneumoniae and B. henselae IgG antibody titers were significantly reduced by absorption of these 3 sera with B. henselae antigens. C. burnetii IgG or IgM antibodies were negative in all patients with CSD. In conclusion, no serological cross-reaction between B. henselae and C. burnetii was observed. On the other hand. B. henselae IgG antibody cross-reacted to C. pneumoniae antigens, whereas C. pneumoniae IgG antibody did not cross-react to B. henselae antigens. Our findings suggest that determination of B. henselae IgG or IgM antibodies were not influenced by C. pneumoniae and C. burnetii antigens.

Bartonella henselae↗
PubMed2001

[An adult case of systemic cat-scratch disease with hepatosplenic involvement].

A previously healthy 25-year-old female was admitted to our hospital in November, 1997, for treatment of a spike-fever of 2 weeks' duration. She had a cat in her house but reported no history of cat bites or scratches. No peripheral lymphadenopathy was detected. White blood cell count was within normal limits, but an increased C-reactive protein level of 11.4 mg/dl was noted. Infectious disease was suspected but ruled out as blood cultures were negative. Empiric therapy with clarithromyoin, isoniazid, and rifampicin was ineffective. In January, 1998, abdominal ultrasonogram revealed multiple hypoechoic mass lesions in the spleen and liver, and a splenectomy was performed in March. Histopathologic examination showed numerous necrotizing and caseating granulomas, which tested positive for Bartonella henselae DNA by PCR. Furthermore, the patient tested positive for B. henselae antibody by immunofluorescence assay. A diagnosis of systemic cat-scratch disease with hepatospnenic involvement was made. Combination therapy with minocycline, sulbactam/cefoperazone, and tosufloxacin was administered and her inflammatory findings improved gradually. We report an adult case of systemic cat-scratch disease with liver and spleen involvement in the non-immunocompromised host.

Adult↗
PubMed2001

[Two patients with Bartonella henselae infection from a dog].

Two patients were reported as having been infected with Bartonella henselae after having contact with a dog. Both of the patients owned a dog, but had no contact with cats. One patient was a 10-year-old boy who had experienced a fever of 38-39 degrees C for 11 days, as well as having bilateral cervical lymphadenopathy. The boy's serum IgM antibodies to B. henselae were negative on the 6th and 16th day of his illness, whereas his IgG value, using indirect fluorescence antibody (IFA) method, was found to be elevated from 1:256 to 1:1,024. B. henselae DNA was detected, by PCR method, in swabs from the gingiva and buccal membrane of the dog with which the boy had been in contact. The boy was first treated with cefdinir (300 mg daily) for 6 days without beneficial effect. He responded, however, to minocycline (100 mg daily) with symptom resolution in four days. The other patient was a 64-year-old man who had experienced a fever of 38-39 degrees C for 27 days, as well as having right inguinal lymphadenopathy. The man's serum IgM antibody to B. henselae was negative, although his IgG value, determined by IFA, was 1:1,024. In addition, B. henselae DNA was detected, by PCR method, in parafin-embedded tissue obtained from the biopsied inguinal lymph nodes. The man was treated with cefazolin (2 g daily). His fever resolved, but his lymph nodes remained swollen. After a regimen of erythromycin (1,200 mg daily), the swelling in his inguinal lymphnodes gradually disappeared. Careful review of suspected CSD victims' history of contact with animals is important in making a prompt diagnosis of B. henselae infection.

Animals↗
PubMed2001

[Dubowitz syndrome].

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Craniofacial Abnormalities↗
PubMed2001

[Ocular dermoids].

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Corneal Diseases↗
PubMed2001

[Ocular drusen].

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Humans↗