[Smith-Lemli-Opitz syndrome].
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Biomedical subjects
Publications and source records attributed to Masato Tsukahara.
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The prominent clinical manifestation of cat scratch disease is regional lymphadenopathy at the site of the cat scratch or bite, associated with fever or general symptoms. A serological study of 540 patients with either lymphadenopathy, persistent fever, or pet ownership disclosed that 30 (16.1%) of the 186 patients with a serological diagnosis of cat scratch disease had no regional lymphadenopathy, and in these 30 patients, the absence of lymphadenopathy was closely related to the presence of persistent fever, fever of unknown origin, or systemic complications. Physicians should be alert to cat scratch disease that is not associated with lymphadenopathy to enable prompt diagnosis and treatment.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome characterized by microcephaly, syndactyly of toes, ambiguous genitalia, and mental retardation. The underlying DHCR7 gene has been identified and a wide variety of distinct mutations were reported in USA and European SLOS patients. A significant difference has been suggested in the frequency of SLOS among different ethnic populations. Here, we report mutational analysis of seven Japanese SLOS patients. Five mutations, R352Q, R242H, G303R, X476Q, and S192F, were identified, and R352Q appeared most frequent, since nine out of the 13 mutations of Japanese origin were the same R352Q. These results suggest that R352Q is a predominant founder mutation in Japanese SLOS patients.
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Cat scratch disease, caused by Bartonella henselae, typically presents with a localized lymphadenopathy with a brief period of fever and general symptoms. However, there are atypical cases with a wide spectrum of clinical manifestations including prolonged fever (> or =37.5 degrees C, for more than 7 days), or with systemic complication, or without lymphadenopathy. We analyzed relationships among those manifestations in children with cat scratch disease. A total of 127 patients were serologically diagnosed as having Bartonella infection between 1997 and 2003. Relationships among clinical manifestations were analyzed by use of multiple regression and multiple logistic regression analyses. Of the 127 seropositive cases, 75 (59.1%) had typical cat scratch disease and 52 (40.9%) had an atypical one. As atypical manifestations, 46 (36.2%) had prolonged fever, 23 (18.1%) had no lymphadenopathy, and 21 (16.5%) had complications: hepatic/splenic abscesses or low-echoic lesions, hepatic granuloma, and central nervous system involvements. Prolonged fever was observed in 20 (87%) of the 23 cases without lymphadenopathy and 16 (76.2%) of the 21 cases with complications. By multiple regression analysis, the duration of fever was significantly associated with both the absence of lymphadenopathy and the presence of complications. The child suffering from cat scratch disease without lymphadenopathy or with complication tends to have prolonged fever. Conversely, when a child has a prolonged fever of unknown origin, possibility of cat scratch disease should be considered, and a search for underlying systemic complications is recommended for prompt diagnosis and appropriate treatment.
Bartonella henselae is a causative agent of cat scratch disease. We preliminarily tested four media for the bacterial growth, including agar plates with sheep, horse or rabbit blood, and chocolate agar. Of these media, rabbit blood and chocolate agar plate were found to be more excellent for the growth than the medium with sheep or horse blood. Blood samples from 60 domestic cats in Yamaguchi Prefecture were then cultured using 7% rabbit blood agar plates and BACTEC9050 (BD), automated blood culture microbial detection system. B. henselae was isolated from six of the 60 (10%) blood samples. Tiny colonies of B. henselae were visible on the agar medium after one week of culture at 35 degrees C in the 5% CO2 atmosphere. BACTEC 9050 detected B. henselae in one of the 10 blood samples and it took two weeks to detect the bacteria automatically, though gram stain failed to show organisms in the blood culture bottle. In conclusion, rabbit blood or chocolate agar and incubation of agar media more than one week and of BACTEC more than two weeks are recommended for the detection of B. henselae.
The possibility of Bartonella clarridgeiae being a causative agent of cat scratch disease (CSD) was investigated by using indirect fluorescence antibody assays with 288 suspected CSD patients. Immunoglobulin G antibody to noncocultivated B. clarridgeiae was suitable only for detection of B. clarridgeiae antibody. Significant cross-reactivity between Bartonella henselae and B. clarridgeiae was noted, and no CSD case caused by B. clarridgeiae was detected.
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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.
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The purpose of this study was to assess the amount of genetic content included in Japanese language nursing textbooks. A total of 222 Japanese nursing textbooks for registered nurses, public health nurses, and nurse midwives published by five publishers in 2001 were evaluated for genetic content. The textbooks were reviewed for content in fundamental knowledge of genetics, genetic diseases, genetic counseling, and nursing care for patients with genetic problems. Results from the review indicated that although information about genetics was found in more than half of the textbooks, descriptions of the roles of nurses in genetic counseling and nursing interventions related mostly to single gene disorders. These findings suggest that not all Japanese nursing textbooks contain genetic content and that they do not include the latest knowledge concerning common diseases and genetic nursing interventions. Although the study did not review other educational methods, based on these findings, nursing educators in Japan should introduce textbooks with genetic information that will prepare registered nurses, public health nurses, and nurse midwives to remain current in genetic concepts and to apply these concepts to their nursing roles through genetic counseling and patient care.
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.
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.