排序方式: 共有8条查询结果,搜索用时 8 毫秒
1
1.
Mehmet Karaca Burcu Hismi Riza Koksal Ozgul Sefayet Karaca Didem Yucel Yilmaz Turgay Coskun Hatice Serap Sivri Aysegul Tokatli Ali Dursun 《Gene》2014
Classical homocystinuria is the most commonly inherited disorder of sulfur metabolism, caused by the genetic alterations in human cystathionine beta-synthase (CBS) gene. In this study, we present comprehensive clinical findings and the genetic basis of homocystinuria in a cohort of Turkish patients. Excluding some CBS mutations, detailed genotype–phenotype correlation for different CBS mutations has not been established in literature. We aimed to make clinical subgroups according to main clinical symptoms and discussed these data together with mutational analysis results from our patients. Totally, 16 different mutations were identified; twelve of which had already been reported, and four are novel (p.N93Y, p.L251P, p.D281V and c.829−2A>T). The probands were classified into three major groups according to the clinical symptoms caused by these mutations. A psychomotor delay was the most common diagnostic symptom (n = 12, 46.2% neurological presentation), followed by thromboembolic events (n = 6, 23.1% vascular presentation) and lens ectopia, myopia or marfanoid features (n = 5, 19.2% connective tissue presentation). Pyridoxine responsiveness was 7.7%; however, with partial responsive probands, the ratio was 53.9%. 相似文献
2.
Mitsuhiro Uchida Fumi Ito Toshiyuki Tsuchiya Yoko Shoji Toru Kurosawa 《Experimental Animals》2015,64(4):333-341
Beagle dogs have long been employed in toxicology studies and as skin disease models.
Compared with other experimental animal species, they are known to be susceptible to skin
responses, such as rashes, from exposure to various chemical compounds. Here, a unique dog
phenotype was identified that showed no skin response to compound 48/80, a mast cell
degranulating agent. Although the skin responses to intradermal injection of
polyoxyethylene castor oil derivative (HCO-60, a nonionic detergent), histamine
dihydrochloride, concanavalin A (IgE receptor-mediated stimuli), or calcium ionophore
were comparable in wild-type (WT) dogs and these nonresponder (NR) dogs, only the
response to compound 48/80 was entirely absent from NR dogs. The skin mast cell density
and histamine content per mast cell were histologically comparable between WT and NR dogs.
By checking for skin responses to compound 48/80, NR dogs were found to exist at the
proportion of 17–20% among four animal breeders. From retrospective analysis of in-house
breeding histories, the NR phenotype appears to conform to the Mendelian pattern of
recessive inheritance. The standard skin response in WT dogs developed at 2–4 months of
age. In conclusion, this unique phenotype, typified by insensitivity in the compound
48/80-induced degranulation pathway in mast cells, has been widely retained by recessive
inheritance in beagle dogs among general experimental animal breeders. The knowledge
concerning this phenotype could lead to better utilization of dogs in studies and aid in
model development. A23187相似文献
3.
TORBJØRN ALM 《Botanical journal of the Linnean Society. Linnean Society of London》2006,151(3):437-452
In Norwegian folk tradition, Linnaea borealis has a long-standing reputation as a cure for shingles ( Herpes zoster ). Numerous vernacular names reflect this use; the majority are dialectal variations of nårisle or nårislegras , literally: 'corpse rash', 'corpse rash grass'. Both are based on nårisle , the old name for shingles, derived from Norse nár , 'corpse', and risla , 'rash'. In folk medicine, Linnaea was also used to treat other kinds of rash, eczema, hives, measles, ringworms, scabies, water blisters, rheumatism and finger infections. It was applied either internally (as a decoction) or externally (as an ointment, in compresses or by exposing the patient to smoke). The use of L. borealis to treat shingles and skin diseases is almost entirely restricted to Norway. Within Norway, such tradition is widespread throughout the southern parts northwards to Trøndelag. The only reference to medicinal use of L. borealis in northern Norway dates back to the 18th century. © 2006 The Linnean Society of London, Botanical Journal of the Linnean Society , 2006, 151 , 437–452. 相似文献
4.
Pylypa J 《Medical anthropology quarterly》2007,21(4):349-368
In Northeast Thailand, khai mak mai (fruit fever) is a local, ethnomedical category of illness identified by community members as untreatable by biomedical health providers. The illness is believed to be incompatible with several substances that may induce death, including fruit as well as two forms of medication associated with biomedical care: injections and intravenous solution. Consequently, fevers suspected of being khai mak mai are treated by herbalists while biomedical health services are avoided and feared. In this article, I examine local perceptions and treatment of khai mak mai. I also explore the context and consequences of concerns about the inadequacy of biomedical care, as well as the social meanings associated with the illness and the political-economic context that shapes both the meanings of, and everyday responses to, fevers suspected of being khai mak mai. 相似文献
5.
Yu Zhang Hongwei Lei Shuaishuai Zhu Wei Li Jie Lin Jianlong Zhang Yang Li Peng Jin 《Journal of biophotonics》2020,13(3)
Monitoring the activity of systemic lupus erythematosus (SLE) is important to patient management. Blood biochemical indexes are commonly assessed but are both time demanding and traumatizing. In this study, a noninvasive and real‐time spatial‐spectral data tool was used to monitor SLE patients through rash spectral data. To build the relationship between the rash spectrum changes and changes in the patients' status, a snapshot hyperspectral Fourier transform imaging spectrometer was built to monitor the rash reflectance changes of hospitalized SLE patients. A simple rash activity index (RAI) which was normally distributed with the doctor's visual rating of rash severity was calculated from hyperspectral images. The sensitivity of the change in RAI is higher than complement 3/4 levels. RAI and anti‐dsDNA antibodies both decreased as the patients recovered. Anti‐dsDNA and complement 3/4 were important indicators of SLE activity suggesting that the RAI directly correlated with patient status. The snapshot spectrometer therefore provides an auxiliary method to monitor SLE disease. 相似文献
6.
Context: Rash and oral mucositis are major non-haematological adverse events (AEs) of docetaxel, in addition to fatigue, nausea, vomiting and diarrhoea, which restrict the use of the drug in cancer therapy. Alpha-1-acid glycoprotein (AAG) is an acute phase reactant glycoprotein and is a primary carrier of docetaxel in the blood. Docetaxel has extensive binding (>98%) to plasma proteins such as AAG, lipoproteins and albumin.Objective: To study the association between plasma AAG level and non-haematological AEs of docetaxel in Malaysian breast cancer patients of three major ethnic groups (Malays, Chinese and Indians).Materials and methods: One hundred and twenty Malaysian breast cancer patients receiving docetaxel as single agent chemotherapy were investigated for AAG plasma level using enzyme-linked immunosorbent assay technique. Toxicity assessment was determined using Common Terminology Criteria of Adverse Events v4.0. The association between AAG and toxicity were then established.Results: There was interethnic variation of plasma AAG level; it was 182?±?85?mg/dl in Chinese, 237?±?94?mg/dl in Malays and 240?±?83?mg/dl in Indians. It was found that low plasma levels of AAG were significantly associated with oral mucositis and rash.Conclusions: This study proposes plasma AAG as a potential predictive biomarker of docetaxel non-haematological AEs namely oral mucositis and rash. 相似文献
7.
A method for detecting rash and fever illness‐associated viruses using multiplex reverse transcription polymerase chain reaction 下载免费PDF全文
Yuki Matsushima Tomomi Shimizu Ikuko Doi Fuminori Mizukoshi Koo Nagasawa Akihide Ryo Hideaki Shimizu Masae Kobayashi Keiji Funatogawa Noriko Nagata Mariko Ishikawa Ayako Komane Nobuhiko Okabe Yoshio Mori Makoto Takeda Hirokazu Kimura 《Microbiology and immunology》2017,61(8):337-344
8.
吉非替尼所致的皮疹是治疗癌症中的难题,而中药验方三两三对于该皮疹具有较好的临床疗效。由于三两三治疗皮疹的机制尚不清楚,本文探究了该中药验方对吉非替尼所致皮疹的抗炎作用。将Brown Norway(BN)大鼠随机分为五组:野生型对照组、吉非替尼皮疹模型对照组、皮疹模型三两三低剂量组、中剂量组、高剂量组。采用吉非替尼(上午)和三两三(下午)同天给药4周。三两三低、中、高剂量组分别按照2 mg/kg/day、4 mg/kg/day、8 mg/kg/day 的剂量对BN模型大鼠进行灌胃,对照组给予纯净水。使用流式细胞仪对巨噬细胞进行分类;免疫组化检测蛋白质的表达;蛋白芯片检测与炎症相关的信号通路和炎症因子。结果表明,与野生型对照组相比,吉非替尼皮疹模型对照组中巨噬细胞炎症蛋白(MIP)-1、MIP-2、髓细胞触发受体-1 (TREM-1)和IL-17A的表达显著增加。三两三干预组与吉非替尼皮疹模型对照组相比,MIP-1、MIP-2、TREM-1和IL-17A的表达明显降低,且三两三对吉非替尼所致皮疹的抗炎作用与巨噬细胞的IL-17A信号通路密切相关。 相似文献
1