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21.
Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation 总被引:8,自引:0,他引:8
Ibañez-Tallon I Pagenstecher A Fliegauf M Olbrich H Kispert A Ketelsen UP North A Heintz N Omran H 《Human molecular genetics》2004,13(18):2133-2141
Motility of unicellular organisms occurred early in evolution with the emergence of cilia and flagella. In vertebrates, motile cilia are required for numerous functions such as clearance of the airways and determination of left-right body asymmetry. Ependymal cells lining the brain ventricles also carry motile cilia, but their biological function has remained obscure. Here, we show that ependymal cilia generate a laminar flow of cerebrospinal fluid through the cerebral aqueduct, which we term as 'ependymal flow'. The axonemal dynein heavy chain gene Mdnah5 is specifically expressed in ependymal cells, and is essential for ultrastructural and functional integrity of ependymal cilia. In Mdnah5-mutant mice, lack of ependymal flow causes closure of the aqueduct and subsequent formation of triventricular hydrocephalus during early postnatal brain development. The higher incidence of aqueduct stenosis and hydrocephalus formation in patients with ciliary defects proves the relevance of this novel mechanism in humans. 相似文献
22.
Park SK An SJ Hwang IK Kim DW Jung JY Won MH Choi SY Kwon OS Jeong YG Kang TC 《Neuroscience research》2004,49(4):405-416
The present study was performed to determine whether the effects induced by GABA(B) receptor-acting drugs would be related with the alteration in GABA(B) receptor expression in the hippocampus using Mongolian gerbil, a genetic epilepsy model. The distribution patterns of both GABA(B) receptor 1A/B and GABA(B)receptor 2 immunoreactivities were similarly detected in the hippocampi of normal and seizure-prone gerbils. Following baclofen (GABA(B) receptor agonist) or phaclofen (GABA(B) receptor antagonist) treatment, GABA(B) receptor immunoreactivities were decreased or increased by dose-dependent manners, respectively. Vigabatrin (GABA transaminase inhibitor) or 3-mercaptopropionic acid (GAD inhibitor) treatment did not affect GABA(B) receptor expressions. These findings suggest that GABA(B) receptor expression in the gerbil hippocampus may be altered by baclofen or phaclofen treatment. 相似文献
23.
Kim Myoung Hee Park Jong Hoon Park Hyoung Woo Chung In Hyuk Park Kyung Ah 《Somatic Cell and Molecular Genetics》1998,24(4):245-248
To construct the PAC and cosmid contig map spanning the HOXA cluster on human chromosome 7, we used 9 DNA markers (D7S2243, D7S3010, HOXA1, EVX1, 750, pBH8, p60, p8.0, and HOXA11), among which the final 4 were generated in this study by shotgun cloning strategy. From the libraries, 5 PAC and 35 cosmid clones were screened and as a result, an overlapping continuous array of cosmid and PAC clones covering the genomic region (about 200 kb) spanning the entire cluster were constructed. The isolated cosmids contained several consecutive HOX genes of regional group, probably sharing the regulatory processes such as alternative splicing or polyadenylation, and thus could be used as useful materials for elucidating the molecular mechanism of HOX gene expression in the future. 相似文献
24.
Riera-Espinoza G Ramos J Carvajal R Belzares E Stanbury G Farías R Valderrama I Alvarez K Riera-González G 《Maturitas》2004,47(2):83-90
OBJECTIVES: An open study was carried out to evaluate changes in bone remodeling markers such as N-telopeptide (NTx), tartrate-resistant acid phosphatase (TRAP), total alkaline phosphatase (TAP), and bone alkaline phosphatase (BAP) during a 1-year continuous tibolone treatment in postmenopausal women. MATERIAL AND METHODS: Thirty-six postmenopausal women were recruited for receiving tibolone 2.5 mg per day for 1 year. Densitometry and determination of biochemical markers of bone metabolism in serum and urine were performed at 1, 3, 6, and 12 months. RESULTS: Comparing baseline with 12 month's values, BAP and all resorption markers decreased significantly. NTx began to decrease since the initiation of the treatment (baseline: 74.4 +/- 5.3; 1 month: 57.5 +/- 4.2; 12 months: 36.6 +/- 2.8). BAP increased at the first month (baseline: 37.3 +/- 2.1; 1 month: 42.6 +/- 3.0) but diminished in the following months (12 months: 23.1 +/- 1.5). TAP started to decrease significantly only after 6 months of treatment (baseline: 37.3 +/- 2.1; 12 months: 31.4 +/- 2.3) and TRAP after 3 months (baseline: 9.8 +/- 0.4; 6 months: 9.1 +/- 0.5; 12 months: 8.2 +/- 0.4). Normal bone mineral density at distal and ultradistal forearm was maintained during the 1-year treatment (baseline: 0.42 +/- 0.01; 12 months: 0.42 +/- 0.01 and baseline: 0.33 +/- 0.01; 12 months: 0.33 +/- 0.01, respectively). CONCLUSION: The use of tibolone 2.5 mg per day diminished progressively and significantly bone resorption and formation markers during 1-year treatment period. 相似文献
25.
Moo -Yeol Lee Hyo -Weon Bang In -Ja Lim Dae -Yong Uhm Sang -Don Rhee 《Pflügers Archiv : European journal of physiology》1994,429(1):150-152
Large conductance Ca2+-activated K+ channel was identified and studied in excised inside-out membrane patches of freshly dispersed smooth muscle cells from rabbit
gastric antrum. The current-voltage relationship of the single channel was linear from -80 to +80 mV of pipette voltage in
which single channel conductance was 249±17.8 pS (n=19) in symmetrical concentration of K+ (145mM) across the patch. Activity of the channel (NPo) depended not only on cytoplasmic calcium concentration but also on
membrane potential. MgATP increased NPo in a dose-dependent manner and Mg2+ was prerequisite for the effect. Okadaic acid (l00nM), inhibitor of protein phosphatases, increased NPo further in the presence
of MgATP. Therefore, it would be concluded that activity of the calcium-activated K+ channel in gastric smooth muscle cells was controlled by phosphorylation state of the channel protein and the state is further
modulated by membrane-delimited protein kinase and protein phosphatase activities. 相似文献
26.
Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus 总被引:9,自引:0,他引:9
Primary ciliary dyskinesia (PCD), also known as Kartagener's syndrome, is a human syndrome that results from ciliary dysfunction. This syndrome is characterized by recurrent respiratory infections, situs inversus and infertility. In some cases, hydrocephalus is also observed. We have characterized an insertional mutation in a mouse axonemal dynein heavy chain gene (Mdnah5) that reproduces most of the classical features of PCD, including recurrent respiratory infections, situs inversus and ciliary immotility. These mice also suffer from hydrocephalus and die perinatally. Electron microscopic studies demonstrate the loss of axonemal outer arms. These results show that mutations in Mdnah5 are a primary cause of PCD and provide direct evidence that mutations in an axonemal dynein can cause hydrocephalus. Mutations in the human DNAH5 have recently been identified in PCD patients. Comparison of the mouse model and the human data suggests that the degree of ciliary dysfunction is causally related to the severity of human PCD, particularly the presence of hydrocephalus. 相似文献
27.
Jong-Keun Kim In Woong Park Du Hyun Ro Bong-Su Mun Hyuk-Soo Han Myung Chul Lee 《The Journal of arthroplasty》2021,36(4):1302-1309
BackgroundLighter weight and lower modulus are potential advantages of titanium (Ti) implants over cobalt chrome (CoCr) implants in total knee arthroplasty (TKA). This study was conducted to determine whether Ti implants in TKA resulted in better clinical outcomes and radiologic results.MethodsOne hundred and eight patients (216 knees) with knee arthritis warranting bilateral primary TKA were randomly allocated to undergo Ti rotating-platform TKA in one knee and CoCr rotating-platform TKA in the contralateral knee. The mean follow-up period was 5.3 years (range, 1-7 years). The weight of Ti implants was one-third lighter than that of CoCr implants (133.9 g vs 390.1 g, P < .01). Clinical outcomes were evaluated using clinical scores, patient preferences (lightness, comfort, naturalness, and satisfaction), gait analysis (kinetic and kinematic data), range of motion, and degree of pain. Radiologic results were evaluated based on the radiolucent line (RLL), degree of medial tibial bone loss, and loosening as seen on X-ray.ResultsNo significant differences were observed in clinical scores or patient preference. Regarding implant weight, approximately 70% of patients did not perceive the Ti implant as lighter. No significant differences were observed in gait analysis, range of motion, or degree of pain. The RLL was seen in 9% of the Ti implant group and 19% of the CoCr implant group.ConclusionThe lighter Ti implant did not show any clinical benefit over CoCr implants. The lightness of the Ti implant is not sufficient to matter or be noticeable. However, the Ti implant showed lower rate of RLL than the CoCr implant.Level of Evidencelevel I, randomized controlled trial. 相似文献
28.
M. Dolores del Toro López Javier Arias Díaz José M. Balibrea Natividad Benito Andrés Canut Blasco Erika Esteve Juan Pablo Horcajada Juan Diego Ruiz Mesa Alba Manuel Vázquez Cristóbal Muñoz Casares Jose Luis del Pozo Miquel Pujol Melchor Riera Jaime Jimeno Inés Rubio Pérez Jaime Ruiz-Tovar Polo Alejandro Serrablo Alex Soriano Josep M. Badia 《Cirugía espa?ola》2021,99(1):11-26
Antibiotic prophylaxis in surgery is one of the most effective measures for preventing surgical site infection, although its use is frequently inadequate and may even increase the risk of infection, toxicities and antimicrobial resistance. As a result of advances in surgical techniques and the emergence of multidrug-resistant organisms, the current guidelines for prophylaxis need to be revised.The Sociedad Española de Enfermedades Infecciosas (Spanish Society of Infectious Diseases and Clinical Microbiology) (SEIMC) together with the Asociación Española de Cirujanos (Spanish Association of Surgeons) (AEC) have revised and updated the recommendations for antibiotic prophylaxis in surgery to adapt them to any type of surgical intervention and to current epidemiology. This document gathers together the recommendations on antimicrobial prophylaxis in the various procedures, with doses, duration, prophylaxis in special patient groups, and in epidemiological settings of multidrug resistance to facilitate standardized management and the safe, effective and rational use of antibiotics in elective surgery. 相似文献
29.
Jongpil Lee Cheryn Song Donghyun Lee Jong Keun Kim Dalsan You In Gab Jeong Bumsik Hong Jun Hyuk Hong Choung-Soo Kim Hanjong Ahn 《Urologic oncology》2021,39(3):196.e15-196.e20
PurposeTo define how much of renal function was determined by the preserved renal parenchymal volume and the ischemic insult during partial nephrectomy (PN) long after surgery.MethodsWe analyzed the data of 530 consecutive patients who had undergone PN. For all patients, renal function was measured preoperatively and again at 3 postoperative months, then annually using 99mTc-diethylenetriaminepentaacetic acid renal scan. Perioperative variables potentially affecting the long-term ipsilateral glomerular filtration rate (GFR) and their time-varying contribution were assessed using a linear mixed model.ResultsThe mean preoperative ipsilateral GFR was 42.9 ml/min, which decreased by 27.3% at 3 months but began to recover thereafter continuing until 4 years (Δ% GFR at 1, 2, 3, 4, and 5 years: 22.3%, 18.5%, 14.7%, 10.0%, and 9.6%, respectively). Parenchymal volume reduction and ischemic time were significantly associated with postoperative ipsilateral GFR throughout observation period unvarying with time. Diabetes and proteinuria were not significant determinants of ipsilateral function at 3 months but became significant at 5 years. In multivariate analysis regarding recovery slope, volume reduction (β = ?0.026, SE 0.006, P < 0.0001), preoperative ipsilateral GFR (β = ?0.021, SE 0.007, P = 0.0012), proteinuria (β = ?0.942, SE 0.372, P = 0.0116), and diabetes (β = ?0.396, SE 0.197, P = 0.0447) were independently significant.ConclusionIpsilateral renal function continued to improve until 5 years after PN. Parenchymal volume loss was the major determinant and its impact on long-term ipsilateral renal function remained constant while ischemic time affected early GFR reduction with its impact diminishing over time. Patient-related factors including diabetes and proteinuria gained significance over time and became independent determinants of recovery slope. 相似文献
30.
Kadri Oumaima Karmous Inès Kharbech Oussama Arfaoui Hiba Chaoui Abdelilah 《Bulletin of environmental contamination and toxicology》2022,108(3):585-593
Bulletin of Environmental Contamination and Toxicology - The application of Cu and CuO nanofertilizers in horticulture has been a promising strategy to promote plants’ growth. In our study,... 相似文献