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Masato Tsukahara

Publications and source records attributed to Masato Tsukahara.

12 recordsLinked to original sources
PubMed2003

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.

Sotos syndrome (SoS) is characterized by pre- and postnatal overgrowth with advanced bone age; a dysmorphic face with macrocephaly and pointed chin; large hands and feet; mental retardation; and possible susceptibility to tumors. It has been shown that the major cause of SoS is haploinsufficiency of the NSD1 gene at 5q35, because the majority of patients had either a common microdeletion including NSD1 or a truncated type of point mutation in NSD1. In the present study, we traced the parental origin of the microdeletions in 26 patients with SoS by the use of 16 microsatellite markers at or flanking the commonly deleted region. Deletions in 18 of the 20 informative cases occurred in the paternally derived chromosome 5, whereas those in the maternally derived chromosome were found in only two cases. Haplotyping analysis of the marker loci revealed that the paternal deletion in five of seven informative cases and the maternal deletion in one case arose through an intrachromosomal rearrangement, and two other cases of the paternal deletion involved an interchromosomal event, suggesting that the common microdeletion observed in SoS did not occur through a uniform mechanism but preferentially arose prezygotically.

Abnormalities, Multiple↗
PubMed2003

Scholarly ethics.

Explore the source record for details and available documents.

Ethics, Nursing↗
PubMed2002

Haploinsufficiency of NSD1 causes Sotos syndrome.

We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 submicroscopic deletion mutations of NSD1 among 42 individuals with sporadic cases of Sotos syndrome. The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.

Acromegaly↗
PubMed2002

Cat scratch disease: analysis of 130 seropositive cases.

To clarify the clinical manifestations of cat scratch disease (CSD), we evaluated a total of 130 seropositive patients with CSD. The patients' ages ranged from 1 to 68 years; 103 (79.2%) were under 18 years of age. CSD occurred predominantly in the fall and winter months. Regional lymphadenopathy was noted in 110 (84.6%) of the cases, and the most common sites were the neck (33%), axillary (27%), and inguinal (18%) regions. One hundred of the patients (77%) had general symptoms, such as fever, headache, and malaise. The clinical manifestations of CSD showed a wide spectrum from typical or classical CSD, with regional lymphadenopathy, to atypical or systemic CSD. Of the 130 cases, 103 (79.2%) were typical CSD and 27 (20.8%) were atypical CSD. Atypical cases of CSD were commonly reported as fever of unknown origin (37.0%), neuroretinitis (22.2%), encephalopathy (14.8%), hepatosplenic granuloma (11.1%), and Parinaud's oculoglandular syndrome (7.4%). Fever of unknown origin or prolonged fever lasting more than 14 days was evident in 27 (20.8%) of the 130 cases in this study. Eleven of the 27 cases lacked lymphadenopathy. Our findings suggest that CSD is not a rare disease in Japan. The indirect fluorescent antibody (IFA) test to detect Bartonella species may provide a prompt diagnosis of CSD and facilitate appropriate therapy.

Adolescent↗
PubMed2002

Genetic education in baccalaureate and associate degree nursing programs in Japan.

The purpose of the present study was to ascertain the amount and type of genetic content in basic nursing education programs in Japan baccalaureate degree (BSN) and associate degree (ADN), and to describe the qualifications of faculty members teaching the genetics content. A questionnaire was used to examine these. The sample was derived from 66 basic nursing preparatory programs. Faculty members from 34 out of 75 (44.7%) of the BSN programs and 32 out of 52 (61.5%) of the ADN programs returned completed surveys, providing a total response rate of 52%. As a result of the analysis of the survey data, the researchers recommend increasing the amount of genetic content, related to nursing practice, in the curriculum of Japanese baccalaureate and associate degree nursing programs. In addition, the researchers recommend increasing the number of nursing faculty specialising in genetics. Japanese nursing education must incorporate genetic knowledge into the curricula to produce professionals who are prepared to practise in the current and future genetic health care arena.

Curriculum↗
PubMed2002

[A case of cat scratch disease with encephalopathy].

We report an atypical case of cat scratch disease (CSD), accompanied with encephalopathy that is a rare complication of CSD. A 17-year old man consulted a doctor for his right axillary lymphadenopathy. The history of his contact with cats and the sign of lymphnode swelling and fever suggested a suspect of cat scratch disease. Administration of ampicillin improved his clinical symptoms, but a few days later he suddenly fell into coma after an episode of convulsion. The CT scan of the brain and laboratory tests showed no significant findings except the slightly elevated cell counts and concentration of protein in his cerebrospinal fluid. He was referred to our hospital on the next day for further examinations and treatments for his coma of unknown cause. The physical examination on admission revealed slight neck stiffening and hypertonicity of his right lower limb, but radiological and laboratory tests showed no significant findings. He gradually recovered from his coma without apparent sequelae in three weeks. Indirect fluorescence antibody titers for CSD in his serum showed a significant elevation to 1:160 of IgM and 1:512 of IgG, and his clinical features were compatible to these of CSD with complications of the central nervous system.

Adolescent↗
PubMedDate not supplied

A case of cat scratch disease neuroretinitis confirmed by polymerase chain reaction.

BACKGROUND: Cat scratch disease neuroretinitis is caused by infection by Bartonella henselae. To demonstrate B. henselae infection, serologic examination is commonly used, but sometimes serologic examination is not adequate for correct diagnosis. Here we present a case of cat scratch disease neuroretinitis confirmed by polymerase chain reaction in addition to serologic examination. CASE: A 55-year-old woman, presenting with headache and high fever, had noticed visual disturbance. The best-corrected visual acuity in her right eye was 0.01. Meningitis, optic neuritis and retinitis were observed and she was treated with oral prednisolone. After repeated questioning, the patient remembered being scratched by a cat. Systemic examination focusing on B. henselae infection was conducted and B. henselae-specific immunoglobulin (Ig) G, but not IgM, was detected in both serum and cerebrospinal fluid. To confirm B. henselae infection, polymerase chain reaction (PCR) analysis using cerebrospinal fluid was performed and the presence of B. henselae-specific DNA was demonstrated. From these results, we diagnosed cat scratch disease neuroretinitis and treated the patient with minocycline hydrochloride together with prednisolone. Following this treatment regimen, the patient's condition improved, and the best-corrected visual acuity in her right eye increased to 0.6 five months after the onset. CONCLUSION: The PCR technique is useful to correctly diagnose cat scratch disease neuroretinitis, if patients exhibit marginal data on B. henselae-specific antibody titer.

Anti-Bacterial Agents↗