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Assessment of the effect of post-natal lead exposure on the hippocampus of developing Wistar rats 产后铅暴露对发育中Wistar大鼠海马影响的评估
Pub Date : 2019-12-01 DOI: 10.5897/AJCPATH2019.0021
D. Oluwasegun, Samuel Adebisi Sunday, Abraham Musa Sunday
This study examined the effect of post-natal lead exposure on the hippocampus of developing Wistar rats. Nine pregnant Wistar rats were randomly distributed into three groups of three rats each, consisting of a control Group 1 which received distilled water and experimental Groups 2 and 3 orally administered with 60 and 90 mg/kg bwt of lead acetate, respectively. The pups of the experimental Groups 2 and 3 were exposed to lead acetate via lactation from dams that were administered lead acetate from post-natal day (PND) 1 - PND 21. On PND 22, all the pups were weighed, and then euthanized. The brains of the pups were excised, weighed; lead deposit was quantified and fixed in Bouin’s fluid. The results revealed a significant (p 0.05) decrease in brain weight, significant increase(p<0.05) in brain somatic index (BSI), significant increase(p<0.05) in lead deposition, weak staining for Nissl substance and distortion in cytoarchitecture of the hippocampus of Wistar rat’s pups exposed to lead acetate compared to the control. Post-natal exposure to lead acetate via lactation caused an increase in lead deposition, decrease in body weight and distortion in the cytoarchitecture of the hippocampus of developing Wistar rats. Key words: Lead acetate, hippocampus, post-natal, lactation.
本研究检测了出生后铅暴露对发育中的Wistar大鼠海马的影响。九只怀孕的Wistar大鼠被随机分为三组,每组三只,包括接受蒸馏水的对照组1和分别口服60和90 mg/kg bwt醋酸铅的实验组2和3。实验组2和3的幼崽通过哺乳期暴露于从产后第1天(PND)至第21天给予醋酸铅的母鼠的醋酸铅。在PND22,对所有幼崽称重,然后实施安乐死。幼崽的大脑被切除,称重;对铅沉积物进行了定量,并将其固定在Bouin流体中。结果显示,与对照组相比,暴露于醋酸铅的Wistar大鼠幼鼠的脑重量显著降低(p 0.05),脑体细胞指数(BSI)显著增加(p<0.05),铅沉积显著增加(p<0.05)、Nissl物质弱染色和海马细胞结构畸变。产后通过哺乳暴露于醋酸铅导致发育中的Wistar大鼠铅沉积增加、体重下降和海马细胞结构畸变。关键词:醋酸铅,海马体,产后,哺乳期。
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引用次数: 2
Temporal bone histopathology study on cochlear otosclerosis: A memoir for the cochlear implant surgeon 耳蜗耳硬化颞骨组织病理学研究:人工耳蜗外科医生回忆录
Pub Date : 2019-06-30 DOI: 10.5897/AJCPATH2019.0019
A. Ahmed
The aim of this study was to describe the pathologic changes in temporal bones with cochlear otosclerosis that may have implications for cochlear implantation. Fifteen human temporal bones with otosclerosis were used for this study. In each temporal bone was studied: (1) medial wall of the middle ear and in particular the horizontal segment of the facial nerve canal; (2) the round window niche and the corresponding part of the scala tympani; (3) the area of the labyrinthine segment and first genu of the facial nerve. Six temporal bones revealed otosclerotic pathology spanning the otic capsule between the cochlear endosteum and the facial nerve canal. The labyrinthine facial nerve was enveloped by otosclerosis in two cases, while the horizontal segment was involved in four temporal bones. Complete obstruction of the round window niche was observed in three cases, while round window niche obstruction was observed in four temporal bones. Otosclerosis presents difficulties for implant candidates. These otosclerotic changes with obstruction are usually present at the round window or at the scala tympani. The histology described underpins the need to counsel patients regarding the possibility of facial nerve stimulation and difficult implantation. Key words: Cochlear otosclerosis, histopathology, round window, obstruction.
本研究的目的是描述颞骨与耳蜗耳硬化的病理变化,这可能对人工耳蜗植入有影响。本研究使用了15块患有耳硬化的人颞骨。在每一块颞骨上研究:(1)中耳内侧壁,特别是面神经管的水平段;(2)圆窗壁龛及相应的斯卡拉鼓室部分;(3)面神经迷路节和第一膝的面积。6块颞骨显示耳硬化病理,横跨耳蜗内膜和面神经管之间的耳囊。面神经迷路被耳硬化包膜2例,水平段受累4块颞骨。3例颞骨圆窗位完全梗阻,4例颞骨圆窗位梗阻。耳硬化症给植体患者带来了困难。这些伴有梗阻的耳硬化性改变通常出现在圆窗或中耳区。组织学描述的基础需要咨询患者关于面神经刺激的可能性和植入困难。关键词:耳蜗耳硬化;组织病理学;圆窗;
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引用次数: 0
Umbilical cord torsion leading to intrauterine fetal death 脐带扭转导致宫内胎儿死亡
Pub Date : 2019-06-30 DOI: 10.5897/AJCPATH2018.0001
U. Mohammed, A. Panti, K. Abdullahi, O. Afolabi, H. Sani, K. Ekochin
The umbilical cord is the critical organ that links the placenta and fetus. The intrauterine conditions and fetal activity influences the umbilical cord length. The normal umbilical cord is spiraled. By ultrasound, the spiral nature of the umbilical cord can be demonstrated early in the first trimester. Most of the adverse pregnancy and perinatal outcomes are related to abnormal Umbilical Cord coiling Index (UCI). A 23 year booked G2P1+0 of about 4/12 pregnant is presented. She presented 4 h history of colicky lower abdominal pain and 1 h history of vaginal bleeding; there were passage of blood clot but no fleshy materials or vesicles. No history of urinary symptoms or trauma, she is not a known Diabetics, hypertensive or sickle cell diseases patient. On examination, was not in painful distress, not pale, afibrile (36.9°C), anecteric and no fedal edema. Other parameters were within normal limit. Pelvic examination reveals a vulva smeared with blood, the fetal membrane were bulging into the vagina, this rupture spontaneously, and the cervix was fully dilated. She was managed for inevitable abortion; she subsequently expelled a female abortus. The abortus and the placenta were taken for histology which shows ischemic infarction on the placental tissue and hyper coiling of the umbilical cord. She was placed on anti-malaria, antibiotics and heamatenics, and was discharged home for follow-up. Modern imaging techniques are useful in the evaluation of Umbilical Cord coiling Index especially during the second trimester. To predict the adverse prenatal and pregnancy outcomes with view of instituting appropriate measures to obviate them, therefore routine screening for the high index cases is suggested.  Keywords: Umbilical cord, coiling index, torsion, intrauterine fetal death (IUFD).
脐带是连接胎盘和胎儿的关键器官。宫内条件和胎儿活动影响脐带长度。正常的脐带是螺旋形的。通过超声检查,脐带的螺旋性质可以在妊娠早期得到证实。大多数不良妊娠和围产期结局与脐带绕线指数(UCI)异常有关。提出了一个23年的G2P1+0预约,约4/12怀孕。她有4小时下腹绞痛史和1小时阴道出血史;有血凝块通过,但没有肉质物质或小泡。没有泌尿系统症状或创伤史,她不是已知的糖尿病、高血压或镰状细胞病患者。检查时,他没有痛苦,没有苍白,没有发烧(36.9°C),没有发烧,也没有fedal水肿。其他参数在正常范围内。盆腔检查显示外阴上沾满了血,胎膜膨胀到阴道中,这种破裂是自发的,宫颈完全扩张。她被迫流产;她随后驱逐了一名女性流产者。取流产和胎盘进行组织学检查,显示胎盘组织缺血性梗死和脐带过度卷曲。她接受了抗疟疾、抗生素和治疗,出院回家接受随访。现代成像技术可用于评估脐带缠绕指数,尤其是在妊娠中期。为了预测不良的产前和妊娠结局,以期制定适当的措施来避免它们,因此建议对高指数病例进行常规筛查。关键词:脐带,盘绕指数,扭转,宫内胎儿死亡(IUFD)。
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引用次数: 0
CD34 positive stem cells recovered from cord blood remain viable after six months of cryoprotective storage process 从脐带血中提取的CD34阳性干细胞在冷冻保存6个月后仍可存活
Pub Date : 2019-05-31 DOI: 10.5897/AJCPATH2019.0020
M. Muhibi, V. O. Mabayoje, J. Komolafe
Cord blood can be used as an alternative source for bone marrow transplantation and its use is developing into a new field of treatment for patients presenting with haematological disorders, immunological defects and specific genetic diseases; including haemoglobinopathies. The aim was to assess the viability of frozen cord blood as a source of HSC which may be suitable for transplantation. Blood specimens were obtained from umbilical cords of 30 consenting mothers and dispensed into 5 cryovials with glycerine for freezing at -20°C; while quantitative assay was carried out on a fresh citrated sample by immunophenotyping using CD34 as marker of HSC. Partec Cyflow cube 6 was used to measure viable cells after labelling the cells with specific fluorochrome/antibody obtained from Sysmex Partec. A repeat quantification was carried out at one month interval for 5 consecutive months and results generated were analysed using T- independent test. The mean ± standard error of mean (SEM) for the 6 consecutive counts were 20,798±2750, 19849±2691, 19223±2637, 18363±2582, 17052±2583 and 16184±2423. The p values obtained when the cryoprotected samples were compared to the baseline were 0.806, 0.681, 0.521, 0.325 and 0.213; reflecting that subsequent counts were insignificantly different from the baseline count. Thus, it is a safe alternative in resource-poor setting to store stem cells in a cryoprotective agent and freeze at -20°C for up to 6 months, without significant depreciation in viability. This alternative should be explored and further researches should be conducted with possibility of extending the number of months. Key words: CD34+ cells, immunophenotyping, stem cells, cryopreservation.
脐血可作为骨髓移植的替代来源,其用途正在发展成为一个治疗血液系统疾病、免疫缺陷和特定遗传疾病患者的新领域;包括血红蛋白病。目的是评估冷冻脐带血作为HSC来源的可行性,该来源可能适合移植。从30名同意的母亲的脐带上采集血样,并将其分装到5个装有甘油的冷冻瓶中,在-20°C下冷冻;同时通过使用CD34作为HSC的标记物的免疫表型在新鲜柠檬酸盐样品上进行定量测定。Partec Cyflow立方体6用于在用从Sysmex Partec获得的特异性荧光色素/抗体标记细胞后测量活细胞。连续5个月以一个月为间隔进行重复定量,并使用T独立检验分析产生的结果。连续6次计数的平均值±标准误差(SEM)分别为20798±2750、19849±2691、19223±2637、18363±2582、17052±2583和16184±2423。将冷冻保护的样品与基线进行比较时获得的p值分别为0.806、0.681、0.521、0.325和0.213;反映出随后的计数与基线计数无显著差异。因此,在资源匮乏的环境中,将干细胞储存在冷冻保护剂中并在-20°C下冷冻长达6个月是一种安全的选择,而不会显著降低生存能力。应该探索这种替代方案,并进行进一步的研究,有可能延长月数。关键词:CD34+细胞,免疫表型,干细胞,冷冻保存。
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引用次数: 0
Effect of formalin fixation on DNA purity and quantity, nucleic acid, and amplicon size in cervical human papilloma virus detection 福尔马林固定对宫颈人乳头瘤病毒检测中DNA纯度、数量、核酸和扩增子大小的影响
Pub Date : 2018-09-30 DOI: 10.5897/AJCPath2018.0009
Y. Oboma, A. Ngokere
Tissue fixation with 10% formalin and molten paraffin wax embedding (FFPE) is routinely used protocol for tissue preservation in histopathology laboratory. We therefore aimed at comparing the differences in DNA quantity, DNA purity, nucleic acid and its effect on primers (PCR) amplicon (bp) sizes between fresh cervical tissues and formalin fixed paraffin embedded (FFPE). The differences in DNA purity, quantity and nucleic acid were 2.02±0.42 versus 1.34±0.28, 47.73±37.45 vs. 21.84±25.52 (ng/µl) and 1.56±0.59 vs 0.49±0.46 between for fresh cervical tissue and FFPE respectively and were all statistically significant at p<0.005. The difference in amplification successes was higher for the 120 bp than for the 450 bp primers. The distribution of cervical human papillomavirus for fresh tissues and formalin-fixed paraffin-embedded tissues studied was 39% and 13% respectively. Although, the present results showed that PCR genomic DNA can be extracted from both fresh cervical smear and 8 years duration FFPE archived tissue blocks. Formalin fixed paraffin embedded tissue blocks is not recommended for epidemiological study for detection and typing of cervical human papillomavirus using high molecular weight  base pair primers and conventional PCR.    Key words: Amplicon size, polymerase chain reaction (PCR), cervical tissues.
在组织病理学实验室中,用10%福尔马林和熔融石蜡包埋(FFPE)进行组织固定是组织保存的常规方案。因此,我们旨在比较新鲜宫颈组织和福尔马林固定石蜡包埋(FFPE)在DNA量、DNA纯度、核酸及其对引物(PCR)扩增子(bp)大小的影响方面的差异。新鲜宫颈组织和FFPE在DNA纯度、数量和核酸方面的差异分别为2.02±0.42对1.34±0.28、47.73±37.45对21.84±25.52(ng/ml)和1.56±0.59对0.49±0.46,均具有统计学意义,p<0.005。120bp引物的扩增成功率差异高于450bp引物。宫颈人乳头瘤病毒在新鲜组织和福尔马林固定石蜡包埋组织中的分布分别为39%和13%。尽管如此,目前的结果表明,PCR基因组DNA可以从新鲜的宫颈涂片和持续8年的FFPE存档组织块中提取。福尔马林固定石蜡包埋组织块不建议用于使用高分子量碱基对引物和常规PCR检测和分型宫颈人乳头瘤病毒的流行病学研究。关键词:扩增子大小,聚合酶链式反应,宫颈组织。
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引用次数: 0
Some plasma biochemical changes in layers experimentally infection with Pasteurella multocida 多杀性巴氏杆菌感染蛋鸡的某些血浆生化变化
Pub Date : 2018-08-31 DOI: 10.5897/AJCPATH2018.0007
J. J. Gadzama, Balami Arhyel Gana, M. A. Chiroma, S. Adamu, H. Abdulsalam, Lekko Madaki Yusuf, I. Idoko, Sani Nuhu Abdulazeez, S. J. Enam, K. Esievo
The present study was carried out to investigate some biochemical alterations in layers experimentally infected with Pasteurella multocida. A total of 20 eighteen-week old ISA Brown layers were used in the experiment. The birds were randomly assigned to two groups (infected and control) of 10 layers each. To establish infection, each bird in the infected group was challenged by intra nasal (0.1 ml) and intramuscular (0.4 ml) administration of P. multocida inoculum containing 4.5 × 108 CFU/ml. Meanwhile, birds in the control group were given clean drinking water and fed standard commercial layers mash ad libidum. All the experimental birds were monitored closely for clinical signs of fowl cholera. Blood samples were collected from both groups at day zero (Day 0), 2, 4, 7, 14, 21, 28, 35, 42, post-infection (pi) and used to assay some biochemical parameters. By day 5 post-inoculation (pi), all birds in the infected group manifested clinical signs typical of fowl cholera; weakness, ruffled feathers, sneezing, greenish-yellowish diarrhoea, decrease in feed and water consumption, weight loss, drop in egg production and mortality rate of (20%). However, there were significant increase in the plasma activities of aspartate amino transferase, alanine aminotransferase, alkaline phosphatase, and level of uric acid and significant hypoproteinaemia. The experimental P. multocida infection initiated hepatic, intestinal and renal dysfunctions. Key words:  Pasteurella multocida, cholera, ISA brown layers.
本研究旨在探讨多杀性巴氏杆菌实验感染蛋鸡后的一些生化变化。试验选用18周龄ISA Brown蛋鸡20只。将鸡随机分为两组(感染组和对照组),每组10只鸡。为了建立感染,对感染组的每只鸡分别给予含4.5 × 108 CFU/ml的多杀假单胞菌(P. multicida)鼻内(0.1 ml)和肌肉(0.4 ml)接种。对照组给予清洁饮水,饲喂标准商品蛋鸡肉泥。所有实验禽均被密切监测有无禽霍乱的临床症状。两组患者分别于感染后第0天(第0天)、第2、4、7、14、21、28、35、42天(感染后pi)采集血样,测定部分生化指标。接种后第5天,感染组所有禽类均表现出禽霍乱的典型临床症状;虚弱、羽毛起皱、打喷嚏、黄绿色腹泻、饲料和水消耗减少、体重减轻、产蛋量下降和死亡率(20%)。血浆天冬氨酸氨基转移酶、丙氨酸氨基转移酶、碱性磷酸酶活性显著升高,尿酸水平显著升高,低蛋白血症显著。实验性多杀假单胞菌感染引起肝脏、肠道和肾脏功能紊乱。关键词:多杀性巴氏杆菌,霍乱,ISA褐层
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引用次数: 0
Comparative study of the effects of aqueous and ethanol fruit extracts of Phoenix dactylifera L. on the cerebellar cortex of ArtesunateAmodiaquine treated adult Wistar rats 凤凰果水提物与乙醇提物对青蒿琥酯阿莫地喹治疗的成年Wistar大鼠小脑皮质影响的比较研究
Pub Date : 2018-07-31 DOI: 10.5897/ajcpath2018.0005
N. M., S. S., A. A., S. S., N. A
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引用次数: 1
Phenotypic detection of multidrug resistant extended-spectrum beta-lactamase (ESBL) producing Escherichia coli from clinical samples 产多药耐药扩展谱β -内酰胺酶(ESBL)大肠杆菌临床样品的表型检测
Pub Date : 2018-07-31 DOI: 10.5897/AJCPATH2018.0004
M. Y. Iliyasu, A. Uba, E. Agbo
A clinico-laboratory investigation of multidrug resistant (MDR) characteristics of extended spectrum β-lactamase (ESBL) producing Escherichia coli pathotypes from some hospitals in Bauchi metropolis, Nigeria, was carried out. A total of 198 E. coli isolates were recovered from different patients’ age group (0 to above 70 years), comprising of 134 males and 85 females, as both out-patient (126) and in-patient (93). The antimicrobial susceptibility tests show a high multidrug resistance among Ampicillin (97.0%), Amoxycillin (96.0%), the newer generation Cephalosporins like Cefuroxime (81.3%), Cefotaxime (85.4%) and Ceftazidime (60.6%). The isolates were sensitive to Ceftriaxone (62.1%), Amikacin (71.7%) and Imipenem (80.8%). Out of the multidrug resistant isolates, 163 were ESBL producers, with frequency of (26.9%) found within age group (31 to 40 years), mostly in males (59.1%) and out-patients (51.5%). Fifty four (27.3%) of the isolates were recovered from stool specimens with MDR and ESBL prevalence of (27.1%) and (26.9%) respectively. Based on clinical diagnosis, prevalence of MDR (29.5%) and ESBL production (28.2%) was found among cases of Urinary tract infections (UTIs), followed by Gastroenteritis (25.3%) and (25.8) respectively. These results indicate a strong association between multidrug resistance and ESBL production in E. coli pathotypes. The Amikacin and Imipenem sensitivity in this study advocates the usage of the carbapenem as the therapeutic alternative in the event of the increasing resistance rates observed with conventional beta-lactam antibiotics. Key words: Multidrug resistant (MDR), extended spectrum β-lactamase (ESBL), urinary tract infections (UTIs), gastroenteritis, carbapenem, beta-lactam antibiotics.
对尼日利亚包奇市部分医院产广谱β-内酰胺酶(ESBL)大肠杆菌病原菌的耐多药(MDR)特征进行了临床-实验室调查。从不同年龄段(0 ~ 70岁以上)患者中分离出198株大肠杆菌,其中男134株,女85株,门诊126株,住院93株。药敏试验结果显示,氨苄西林(97.0%)、阿莫西林(96.0%)、头孢呋辛(81.3%)、头孢噻肟(85.4%)、头孢他啶(60.6%)等新一代头孢菌素耐药率较高。对头孢曲松(62.1%)、阿米卡星(71.7%)和亚胺培南(80.8%)敏感。在多重耐药分离株中,163株为ESBL产生菌,在31 ~ 40岁年龄组中发现的频率(26.9%),主要是男性(59.1%)和门诊患者(51.5%)。从粪便标本中分离出54株(27.3%),MDR和ESBL患病率分别为(27.1%)和(26.9%)。临床诊断结果显示,尿路感染病例中MDR患病率为29.5%,ESBL产生率为28.2%,胃肠炎患病率为25.3%,ESBL产生率为25.8%。这些结果表明,大肠杆菌病原菌的多药耐药与ESBL产生之间存在很强的关联。本研究中阿米卡星和亚胺培南的敏感性提倡在使用传统β -内酰胺类抗生素观察到耐药率增加的情况下使用碳青霉烯作为治疗选择。关键词:耐多药(MDR),广谱β-内酰胺酶(ESBL),尿路感染(UTIs),胃肠炎,碳青霉烯类,β-内酰胺类抗生素
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引用次数: 13
Determination of egg production and weight in layers experimentally infected with Salmonella gallinarum 鸡沙门氏菌感染蛋鸡产蛋量和体重的测定
Pub Date : 2018-06-30 DOI: 10.5897/AJCPATH2018.0006
Adam Chiroma Mohammed, A. Sani, J. Joseph, A. King, H. Abdulsalam, Gana Balami Arhyel, Y. Muhammad, Bulama Ibrahim, Y. Lekko
The present study was conducted to determine egg production and weight in layers experimentally infected with Salmonella gallinarum. Twenty layers were used for the research. The layers were purchased at the age of 18 weeks from certified commercial poultry farm in Kujama farm, Kaduna State, Nigeria and housed in the Animal Research Unit of the Veterinary Teaching Hospital, Faculty of Veterinary Medicine, Ahmadu Bello University, Zaria, Kaduna State, Nigeria. The birds were examined to certify that they were disease free by collecting samples from the cloacal. The birds were assigned to two groups (infected and control) of ten layers each. The infected group was challenged with Salmonella gallinarum orally at the dose of 0.5 ml of 9 x 108 CFU/ml. All the birds in the control group were orally given 0.5 ml of normal saline. After the infection, all the infected layers were closely observed for clinical signs of fowl typhoid. Percentage of egg production and body weight were measured from each group at days zero (Day 0), 2, 4, 7, 14, 21, 28, 35 and 42, post-infection (pi). By day seven post infection, all birds in the infected group showed clinical signs typical of fowl typhoid, namely, ruffled feathers, weakness, somnolence, greenish-yellow diarrhea, huddling together, decrease in feed and water consumption, and five of the layers died. There were, however, significant drop in egg production and loss of body weight in the S. gallinarum infected group. Key words: Fowl typhoid, Salmonella, inoculum, layers, egg production, body weight.
本研究旨在测定鸡沙门氏菌实验感染蛋鸡的产蛋量和重量。研究使用了20层。这些蛋鸡在18周大时从尼日利亚卡杜纳州库贾马农场的认证商业家禽养殖场购买,并安置在尼日利亚卡杜娜州扎里亚艾哈迈杜·贝洛大学兽医学院兽医教学医院的动物研究室。通过从泄殖腔采集样本,对这些鸟进行了检查,以证明它们没有疾病。这些鸟被分为两组(感染组和对照组),每组10层。感染组口服鸡沙门氏菌攻击,剂量为0.5 ml 9 x 108 CFU/ml。对照组的所有鸟类均口服生理盐水0.5ml。感染后,密切观察所有感染层的鸡伤寒临床症状。在感染后第0天(第0天)、第2天、第4天、第7天、第14天、第21天、第28天、第35天和第42天测量各组的产蛋率和体重(pi)。感染后第7天,感染组中的所有鸟类都表现出典型的鸡伤寒临床症状,即羽毛褶皱、虚弱、嗜睡、绿黄色腹泻、挤在一起、饲料和水消耗减少,其中5只死亡。然而,鸡尾丝虫感染组的卵子产量显著下降,体重减轻。关键词:鸡伤寒,沙门氏菌,接种物,蛋鸡,产蛋量,体重。
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引用次数: 1
SKELETAL MUSCLE MITOCHONDRIAL ALTERATIONS IN CARBOXYL TERMINUS OF HSC70 INTERACTING PROTEIN (CHIP) -/- MICE. hsc70相互作用蛋白(chip) -/-小鼠骨骼肌线粒体羧基末端的改变。
Jonathan C Schisler, Cam Patterson, Monte S Willis

Aim: Hereditary ataxias are characterized by a slowly progressive loss of gait, hand, speech, and eye coordination and cerebellar atrophy. A subset of these, including hypogonadism, are inherited as autosomal recessive traits involving coding mutations of genes involved in ubiquitination including RNF216, OTUD4, and STUB1. Cerebellar CHIPopathy (MIM 615768) is a form of autosomal recessive spinocerebellar ataxia (SCAR16) and when accompanied with hypogonadism, clinically resembles the Gordon Holmes Syndrome (GHS). A causal missense mutation in the gene that encodes the carboxy terminus of HSP-70 interacting protein (CHIP) protein was reported for the first time in 2014. CHIP-/- mice were found to phenocopy the motor deficiencies and some aspects of the hypogonadism observed in patients with STUB1 mutations. However, mechanisms responsible for these deficits are not known.

Methods: In a survey of skeletal muscle by transmission electron microscopy.

Results: CHIP-/- mice at 6 months of age were found to have morphological changes consistent with increased sarcoplasmic reticulum compartments in quadriceps muscle and gastrocnemius (toxic oligomers and tubular aggregates), but not in soleus.

Conclusion: Since CHIP has been implicated in ER stress in non-muscle cells, these findings illustrate potential parallel roles of CHIP in the muscle sarcoplasmic reticulum, a hypothesis that may be clinically relevant in a variety of common muscular and cardiac diseases.

目的:遗传性共济失调的特征是缓慢进行性丧失步态、手、语言和眼协调能力以及小脑萎缩。其中的一部分,包括性腺功能减退症,是作为常染色体隐性性状遗传的,涉及涉及泛素化的基因编码突变,包括RNF216、OTUD4和STUB1。小脑性chipopopathy (MIM 615768)是一种常染色体隐性脊髓小脑性共济失调(SCAR16),当伴有性腺功能减退时,临床表现类似于Gordon Holmes综合征(GHS)。2014年首次报道了编码HSP-70相互作用蛋白(CHIP)蛋白羧基端基因的因果错义突变。发现CHIP-/-小鼠表现出运动缺陷和某些方面的性腺功能减退,这些在STUB1突变患者中观察到。然而,造成这些缺陷的机制尚不清楚。方法:采用透射电镜对骨骼肌进行观察。结果:6个月大的CHIP-/-小鼠出现了与股四头肌和腓肠肌(毒性低聚物和管状聚集体)肌浆网腔室增加一致的形态学变化,但在比目鱼肌中没有。结论:由于CHIP与非肌肉细胞的内质网应激有关,这些发现说明了CHIP在肌肉肌浆网中的潜在平行作用,这一假设可能与多种常见肌肉和心脏疾病的临床相关。
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引用次数: 0
期刊
African journal of cellular pathology
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