[LEOPARD syndrome].
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Diagnosis, Differential↗
Biomedical subjects
Rie Yoshida
Publications and source records attributed to Rie Yoshida.
[Relationship between length of sleep and oxidative stress marker, urinary 8-hydroxy-2'-deoxyguanosine].
OBJECTIVES: In this study, we aim to examine whether the length of sleep modifies the level of urinary 8-hydroxy-2'-deoxyguanosine (8-OH-dG). METHODS: Subjects were 146 workers who were engaged in management, clerical work, laboratory work, or business at a certain company. We obtained information on the subjects concerning gender, body mass index, drinking and smoking habits, and the lengths of habitual and previous night sleep among others using self-reported questionnaires, which were then confirmed by interview. Urine specimens were collected in the morning and those from the second or later void were used to measure 8-OH-dG and creatinine levels. The amount of 8-OH-dG normalized by creatinine content was used as the indicator of 8-OH-dG excretion (Spot Urine 8-OH-dG: SU8-OH-dG). We excluded subjects who took sleeping pills the previous night or habitually, and those whose levels were beyond the three-standard-deviation range. The subjects were then classified into three equal-sized groups according to the length of sleep, either habitual or the previous night. RESULTS AND CONCLUSION: (1) A long or a short previous night's sleep, drinking alcohol more than once a week, and habitual use of medicine increased SU8-OH-dG level among female subjects. (2) A short previous night's sleep and habitual smoking, and a short previous night's sleep and habitual use of medicine had interactions which increased SU8-OH-dG level among male subjects but the length of a previous night's sleep itself did not have an effect on SU8-OH-dG level. (3) The length of habitual sleep had no effect on SU8-OH-dG level.
8-Hydroxy-2'-Deoxyguanosine↗
Identification and linkage mapping of the genes for the putative homeodomain protein (hox1) and the putative pheromone receptor protein homologue (rcb1) in a bipolar basidiomycete, Pholiota nameko.
In the current studies, we sequenced and characterized the gene for the homeodomain protein (hox1) in a bipolar mushroom, Pholiota nameko, which is a putative homologue of A mating type genes in the tetrapolar basidiomycete, Coprinopsis cinerea. We also sequenced and characterized the gene for the pheromone receptor (rcb1) in P. nameko, which is a putative homologue of the B mating type genes in C. cinerea. Restriction fragment length polymorphism (RFLP) and linkage analyses indicated that the both genes are present as a single locus on the different chromosome. Moreover, in P. nameko, the hox1 gene was mapped to the A mating type locus in linkage group I. However, rcb1 was not linked to the A mating type locus and was mapped to the other linkage group. These results strongly suggest that hox1 regulates with incompatibility in the bipolar mushroom, and that rcb1 may not affect the mating function in P. nameko. This is the first report regarding the structure of the mating type genes in bipolar mushrooms.
Amino Acid Sequence↗
Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors.
CONTEXT: The prevalence of cryptorchidism (CO) has increased during the past few decades in several countries, and this event has primarily been ascribed to the estrogenic effects of environmental endocrine disruptors (EEDs). Little is known, however, about the role of genetic susceptibility to EEDs in this phenomenon. OBJECTIVE: The objective of this study was to determine whether CO is associated with a specific haplotype of the gene for estrogen receptor alpha (ESR1) that mediates the estrogenic effects of EEDs. DESIGN: This was a case-control study. SETTING: The study was performed at the National Research Institute and University Hospitals. SUBJECTS: Sixty-three cryptorchid males, aged 1-13 yr, and 47 control males, aged 4-12 yr, were studied. INTERVENTION: After genotyping 15 single nucleotide polymorphisms widely distributed in the greater than 300-kb genomic sequences of ESR1, haplotype analysis was performed. MAIN OUTCOME MEASURE: Identification of a specific ESR1 haplotype associated with CO was the main outcome measure. RESULTS: A haplotype block was identified for an approximately 50-kb region encompassing single nucleotide polymorphisms 10-14 in the 3' region of ESR1 in both groups. The frequency of the estimated AGATA haplotype within the block was higher in the patients than in the control males (34.0% vs. 21.3%; P = 0.037), and the association of this haplotype with CO phenotype was significant in a recessive mode (P = 0.0060). The homozygosity for this haplotype was identified only in the patients, and the frequency of the homozygotes was significantly different between the two groups (10 of 63 vs. zero of 47; P = 0.0042). CONCLUSIONS: The association of CO with homozygosity for the specific ESR1 haplotype suggests the relevance of genetic susceptibility to EEDs in the development of CO.
Adolescent↗
Acute myeloid leukemia in an adult Noonan syndrome patient with PTPN11 mutation.
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Adult↗
PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
This review summarizes PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutations and genotype-phenotype correlations in Noonan syndrome (NS) and LEOPARD syndrome (LS). PTPN11 mutations have been identified in approximately 40% of NS patients and in >80% of LS patients. Since the vast majority of mutations reside in and around the broad intramolecular interaction surface between the N-SH2 and PTP domains of the PTPN11 protein, they have been suggested to affect the intramolecular N-SH2/PTP binding in the absence of a phosphopeptide, leading to excessive phosphatase activities. The type of mutations is diverse in NS and limited in LS, and is almost mutually exclusive between NS and LS. Clinical assessment in NS patients implies that cardiovascular anomalies and hematologic abnormalities are predominant in mutation positive patients, hypertrophic cardiomyopathy is predominant in mutation negative patients, and growth deficiency, mental retardation, and minor somatic anomalies are similar between the two groups of patients. Phenotypic evaluation in LS patients suggests that a hypertrophic cardiomyopathy rather than an electrocardiographic conduction abnormality is characteristic of PTPN11 mutation positive patients.
Cardiomyopathy, Hypertrophic↗
Altered expression of BDNF and its high-affinity receptor TrkB in response to complex motor learning and moderate exercise.
We report that rats learning complex motor skills or exercising moderately show changes in expression of brain-derived neurotrophic factor (BDNF) and its receptor, TrkB protein, in cerebellum and motor cortex. It is now known that physical activity increases expression of some neurotrophins. We examined the time course of BDNF and TrkB expression after 1, 3, 5, 7 or 14 days in one of three conditions: (1) an "acrobatic" motor skill learning condition (AC), (2) a motor activity condition (moderately paced running on a flat track; MC) and (3) an inactive social-only control (SC) that served as a baseline group. Expression levels of BDNF and TrkB were evaluated by measuring relative optical density of the immunocytochemical reaction product. In cerebellar molecular layer, expression of BDNF correlated significantly with time spent in AC and MC over the first 7 days of training and remained elevated after 14 days of AC but not of MC. Changes in TrkB protein expression in cerebellar molecular layer mirrored those for BDNF during the first 7 days of training, but subsequently its expression subsided to the control level. In motor cortex, a significant increase in BDNF and TrkB protein expression was detected in the upper layers after 14 days in AC. Increased expression of BDNF, but not of TrkB, was observed in upper motor cortical layers after 14 days of MC. These data indicate that complex motor learning and moderate physical activity with little learning produce different effects on the expression pattern of BDNF and its receptor and may have implications for neural plasticity arising from such experiences.
Analysis of Variance↗
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.
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Adolescent↗
Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13.
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Chromosome Disorders↗
Reduction in size of perforated postsynaptic densities in hippocampal axospinous synapses and age-related spatial learning impairments.
A central problem in the neurobiology of normal aging is why learning is preserved in some aged individuals yet impaired in others. To investigate this issue, we examined whether age-related deficits in spatial learning are associated with a reduction in postsynaptic density (PSD) area in hippocampal excitatory synapses (i.e., with a structural modification that is likely to have a deleterious effect on synaptic function). A hippocampus-dependent version of the Morris water maze task was used to separate Long-Evans male rats into young adult, aged learning-unimpaired, and equally aged learning-impaired groups. Axospinous synapses from the CA1 stratum radiatum were analyzed using systematic random sampling and serial section analyses. We report that aged learning-impaired rats exhibit a marked ( approximately 30%) and significant reduction in PSD area, whereas aged learning-unimpaired rats do not. The observed structural alteration involves a substantial proportion of perforated synapses but is not observed in nonperforated synapses. These findings support the notion that many hippocampal perforated synapses become less efficient in aged learning-impaired rats, which may contribute to cognitive decline during normal aging.
Aging↗
A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia.
A de novo 3-bp deletion (179-181delGTG) was identified at exon 3 of the PTPN11 gene in a female infant with severe Noonan phenotype including hydrops fetalis and juvenile myelomonocytic leukemia. Since the 3-bp deletion is predicted to result in loss of the 60th glycine in the N-SH2 domain that is directly involved in the intramolecular interaction between the N-SH2 and the PTP domains of the PTPN11 protein, this mutation would disrupt the N-SH2/PTP binding in the absence of a phosphopeptide, leading to an excessive phosphatase activity. The results expand the spectrum of PTPN11 mutations in Noonan syndrome (NS), and suggest that a PTPN11 mutation leads to a wide range of clinical features of Noonan syndrome.
Base Sequence↗
Dermoscopic features of mucinous carcinoma of the skin.
BACKGROUND: Dermoscopic features of nonpigmented skin lesions are seldom reported; dermoscopy might be useful in speculating pathologic features in the upper dermis. OBJECTIVE: The objective was to identify additional dermoscopic criteria. METHODS: Dermoscopy of the mucinous carcinoma of the skin occurring on the cheek of a 69-year-old man was performed. RESULTS: We have shown characteristic dermoscopic features of whitish network and light-brown globules and they correspond to the pathologic findings of fibrous septum and mucinous deposition, respectively. DISCUSSION: Dermoscopic examination seemed useful as an adjunct to the diagnosis of this rare nonpigmented malignant neoplasm.
Adenocarcinoma, Mucinous↗
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.
We report on PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutation analysis and clinical assessment in 45 patients with Noonan syndrome. Sequence analysis was performed for all of the coding exons 1-15 of PTPN11, revealing a novel 3-bp deletion mutation and 10 recurrent missense mutations in 18 patients. Clinical assessment showed that 1) the growth pattern was similar in mutation-positive and mutation-negative patients, with no significant difference in birth length [-0.6 +/- 2.2 sd (n = 10) vs. -0.6 +/- 1.4 sd (n = 21); P = 0.95], childhood height [-2.6 +/- 1.1 sd (n = 14) vs. -2.1 +/- 1.6 sd (n = 23); P = 0.28], or target height [-0.4 +/- 0.9 sd (n = 14) vs. -0.2 +/- 0.7 sd (n = 17); P = 0.52]; 2) pulmonary valve stenosis was more frequent in mutation-positive patients than in mutation-negative patients (10 of 18 vs. 6 of 27; P = 0.02), as was atrial septal defect (10 of 18 vs. 4 of 27; P = 0.005), whereas hypertrophic cardiomyopathy was present in five mutation-negative patients only; and 3) other features were grossly similar in the prevalence between mutation-positive and mutation-negative patients, but hematological abnormalities, such as bleeding diathesis and juvenile myelomonocytic leukemia, were exclusively present in mutation-positive patients (5 of 18 vs. 0 of 27; P = 0.007). The results suggest that PTPN11 mutations account for approximately 40% of Noonan syndrome patients, as has been reported previously. Furthermore, assessment of clinical features, in conjunction with data reported previously, implies that the type of cardiovascular lesions and the occurrence of hematological abnormalities are different in mutation-positive and mutation-negative patients, whereas the remaining findings are similar in the two groups of patients.
Adolescent↗
Associations between oxidative stress levels and total duration of engagement in jobs with exposure to fly ash among workers at municipal solid waste incinerators.
The fly ash from municipal solid waste incinerators (MSWIs) is known to contain heavy metals, polychlorinated dibenzo-p-dioxins (PCDDs), polychlorinated dibenzofurans (PCDFs), polyaromatic hydrocarbons (PAHs), and other organic materials. Heavy metals, PCDDs, PCDFs and PAHs reportedly cause oxidative stress in vitro and in vivo. In this study, we have measured the blood and urinary levels of several oxidative stress markers in MSWI workers and discuss herein whether the duration of engagement in jobs with exposure to MSWI fly ash is associated with these levels. The subjects were 81 male workers (mean age 42.7 years) from four MSWIs in the same city. Job history was determined from each subject and jobs were categorized according to the possibility of exposure to fly ash. The subjects were classified into four groups: long duration of engagement in jobs with exposure to fly ash, short duration of engagement in jobs with exposure to fly ash, engagement in jobs with limited exposure to fly ash and control. Blood and urine specimens were obtained from the subjects in the morning before breakfast. The levels of 8-hydroxy-2'-deoxyguanosine (8-OH-dG) in the urine and leukocytes were measured as markers of oxidative DNA damage. Blood malondialdehyde and lipid peroxide levels and the level of total urinary biopyrrins were also measured as markers of systemic oxidative stress. The mean levels of all markers were compared among the four groups. There was a significant trend showing that the level of urinary 8-OH-dG rose with increased duration of engagement in jobs with exposure to MSWI fly ash (P<0.05). Considering this result, we speculate that certain chemicals in fly ash might have induced oxidative stress in the study subjects.
8-Hydroxy-2'-Deoxyguanosine↗
Urinary 8-oxo-7,8-dihydro-2'-deoxyguanosine values measured by an ELISA correlated well with measurements by high-performance liquid chromatography with electrochemical detection.
Measurement of urinary 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxo-dG) has recently become more popular as a means of assessing oxidative stress in the human body. Although using high-performance liquid chromatography with electrochemical detection (HPLC-ECD) is a reliable method of measuring 8-oxo-dG, easier and simpler alternative methods may be preferred, if they are quantitatively accurate. The ELISA method is the likeliest candidate for a useful alternative. Anti-8-oxo-dG monoclonal antibody N45.1 has been shown to have better specificity for 8-oxo-dG than other anti-8-oxo-dG antibodies, but the urinary 8-oxo-dG values measured by ELISA using N45.1 have been claimed to only weakly correlate with the values obtained by HPLC-ECD. Because the commercial ELISA kit has been improved, we compared the urinary 8-oxo-dG values measured by the ELISA with the values obtained by HPLC-ECD. We sampled the urine of 72 healthy Japanese individuals and measured their urinary 8-oxo-dG levels by the ELISA with appropriate controls and by HPLC-ECD. When X was defined as the values of 8-oxo-dG measured by HPLC-ECD, and Y was defined as the values of 8-oxo-dG measured by the ELISA, simple regression analysis showed the most likely relationship to be Y = 1.83X + 0.8. The correlation coefficient was 0.88, which indicated a good correlation between X and Y. These results show that the ELISA can be applied to studies comparing relative urinary 8-oxo-dG values among several groups, if the studies do not require determination of the exact concentration of 8-oxo-dG in urine.
8-Hydroxy-2'-Deoxyguanosine↗