Summary
A 59‐year‐old patient with diabetes mellitus had been treated with human recombinant insulin for 4 years. He developed a solid mass on his left abdomen at the insulin injection site, which ...had an overlying pigmented verrucous plaque and keratinized papules, similar to acanthosis nigricans (AN). On histological examination, the mass was found to contain a deposit of amyloid in the dermis, with hyperkeratosis, papillomatosis and acanthosis in the epidermis. Using immunohistochemistry, the amyloid deposits were found to be positive for insulin. A few cases of localized insulin‐derived amyloid deposits at injection sites have been reported previously, but none had significant epidermal changes. The coexistence of dermal insulin‐derived amyloidosis and an overlying AN‐like change, as found in our patient, has not been reported previously, to our knowledge. The presence of a tumour‐like lesion at the injection site should be carefully examined, as injection of insulin into amyloid deposits can result in insulin resistance.
Genetic reversion is the phenomenon of spontaneous gene correction by which gene function is partially or completely rescued. However, it is unknown whether this mechanism always correctly repairs ...mutations, or is prone to error. We investigated a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole‐exome sequencing. Two affected boys have c.633delG and the other has c.631delC. We also confirmed de novo germline (c.631delC) and low‐prevalence somatic (c.633delG) mutations in their mother. The two mutations are present on the same maternal haplotype, suggesting that a postzygotic somatic mutation or a reversion error occurred at an early embryonic stage in the mother, leading to switched KDM5C mutations in the affected siblings. This event is extremely unlikely to arise spontaneously (with an estimated probability of 0.39–7.5 × 10−28), thus a possible reversion error is proposed here to explain this event. This study provides evidence for reversion error as a novel mechanism for the generation of somatic mutations in human diseases.
Genetic analysis of the family with intellectual disability harboured different X‐linked KDM5C mutations.
Objective: To evaluate the association between the presence of periodontal pathogenic bacteria in saliva and halitosis in mouth air. Design: Cross‐sectional microbiological and clinical oral ...examination of adult patients. Subjects: 101 adult patients (25 males, 76 females) who attended the Preventive Dentistry and Breath Odour Clinic of Kyushu Dental College. Their average age was 50.0 ± 13.5 years old (mean ± SD). Setting: The subjects were classified into three groups: halitosis subjects with a probing depth (PD) ≥ 4mm (P group), halitosis subjects without PD ≥ 4mm (H group), and non‐halitosis subjects without PD ≥ 4mm (C group). Methods: All subjects received a periodontal examination. Volatile sulphur compounds (VSC: hydrogen sulphide and methyl mercaptan) were measured using gas chromatography. The presence of Bacteroides forsythus, Porphyromonas gingivalis, Actinobacillus actinomycetemcomitans and Prevotella intermedia in the saliva was detected by polymerase chain reaction. Results and conclusion: The presence of B. forsythus, P. gingivalis and P. intermedia influenced the production of VSC. Specifically, the presence of B. forsythus in subjects with periodontitis was strongly correlated to the concentration of VSC in mouth air.
Objective. This study aimed to determine the clinical assessment of volatile sulfur compound (VSCs) for the evaluation of noticeable oral malodor using gas chromatography (GC).
Methods. The oral ...malodor of 127 adult patients was investigated using the organoleptic test and GC, and the relation between the organoleptic evaluation and VSCs were analyzed.
Results. The optimum cut-off values of CH
3SH, H
2S and total VSC (CH
3SH+H
2S) to discriminate between the patients with and without noticeable oral malodor were obtained from ROC curves, and determined to be 0.44, 1.10 and 2.20
ng/10
ml, respectively. The logistic regression was analyzed for estimation of the association between an organoleptic evaluation greater than a slight level and the groups with CH
3SH, H
2S or total VSC with concentrations above the optimum cut-off value. Only CH
3SH showed an independent association with noticeable oral malodor.
Conclusions. It was evident that CH
3SH was a more useful marker for the evaluation of oral malodor than H
2S. Moreover, it appears CH
3SH is the predominant causative factor of noticeable oral malodor.
Aerogel Cherenkov counter for the BELLE detector Iijima, T; Adachi, I; Enomoto, R ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
10/2000, Letnik:
453, Številka:
1
Journal Article
Recenzirano
In the BELLE experiment at the KEK B-factory, a threshold aerogel Cherenkov counter, with refractive index from 1.010 to 1.030, is used to provide π/K separation in the momentum region up to
3.5
...GeV/c
. The detector system has been constructed, installed into the BELLE detector, and then commissioned with cosmic rays and beams. This paper presents a brief explanation of the detector system and its performance obtained in early BELLE physics runs.
Summary
We investigated the significance of the platelet indices, mean platelet volume (MPV), platelet size deviation width (PDW), and platelet‐large cell ratio (P‐LCR), in the diagnosis of ...thrombocytopenia by comparing these levels in 40 patients with hypo‐productive thrombocytopenia (aplastic anaemia; AA) and 39 patients with hyper‐destructive thrombocytopenia (immune thrombo‐cytopenia; ITP). The sensitivity and specificity of platelet indices to make a diagnosis of ITP were also compared. All platelet indices were significantly higher in ITP than in AA, and platelet indices showed sufficient sensitivity and specificity. The area under the curve (AUC) of the receiver operating characteristics curve of platelet indices was large enough to enable the diagnosis of ITP. P‐LCR and PDW had the largest AUCs, which indicated that these values were very reliable for immune thrombocytopenia. Our results suggest that these indices provide clinical information about the underlying conditions of thrombocytopenia. More attention should be paid to these indices in the diagnosis of thrombocytopenia.
Aiming to fill a need for data regarding radiocesium transport via both branchflow and stemflow through forests impacted by radioactive fallout, this study examined the vertical variation of ...radiocesium flux from branchflow and stemflow through the canopies of young Japanese cedar (Cryptomeria japonica (L. f.) D. Don) and Japanese oak (Quercus serrata Murray) trees in the aftermath of the Fukushima Dai-ichi Nuclear Power Plant accident. In forested areas approximately 40 km northwest of the location of the Fukushima Dai-ichi accident, the 137Cs concentration varied significantly among sampling periods and between the two forests, with the oak stand exhibiting higher 137Cs concentrations and depositional fluxes than the cedar stand. Expressed per unit trunk basal area, the depositional flux of 137Cs generated from the cedar and oak stands was 375 and 2810 Bq m−2 year−1, respectively. Of this total, 71% and 48% originated from the cedar and oak canopy, respectively, while the remainder originated from the trunk. Accordingly, the origin of radiocesium was more balanced for the oak stand with almost half of the flux coming from the canopy (48%) and the other half from the trunk (52%). Only about a quarter (29%) of the radiocesium flux originated from the trunk in Japanese cedar. Results from this work provide needed data that can enable a more thorough conceptualization of radiocesium cycling in forests. Coupling these empirical results with a physically-based model would likely lead to better forest management and proactive strategies for rehabilitating radioactively-contaminated forests and reducing the exposure risk of radiation dose rate for those that utilize forest products.
Display omitted
•Vertical variation of 137Cs cycling was observed for both cedar and oak stands.•71% and 48% of the 137Cs flux originated from cedar/oak upper canopies, respectively.•137Cs concentrations in branchflow and stemflow were largest during winter.•The annual 137Cs flux from the oak stand was 7.5 times greater than cedar.
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