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The Inheritance, Pathophysiology, and Treatment for Polycystic Kidney Disease and Its Effects on the Heart—A Literature Review
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作者 Harika Paruchuri Kelley Williams Terry Oroszi 《International Journal of Clinical Medicine》 2025年第1期95-111,共17页
Polycystic kidney disease (PKD) is an autosomal dominant genetic disorder that causes the formation of multiple cysts in the kidneys, leading to kidney failure. PKD is a common condition affecting approximately 1 in 5... Polycystic kidney disease (PKD) is an autosomal dominant genetic disorder that causes the formation of multiple cysts in the kidneys, leading to kidney failure. PKD is a common condition affecting approximately 1 in 500 individuals worldwide. The most prevalent type of PKD is autosomal dominant PKD (ADPKD). ADPKD is caused by mutations in either the PKD1 or PKD2 genes, which encode for proteins involved in cell growth and differentiation. These mutations lead to the formation of fluid-filled cysts in the kidneys, which can eventually lead to kidney failure. In addition to affecting the kidneys, PKD can also cause cysts in other organs, such as the liver, pancreas, and spleen. PKD can also lead to various complications, including high blood pressure, heart valve abnormalities, and brain aneurysms. This review focuses on the inheritance, pathophysiology, and treatment of PKD, with a specific emphasis on its effects on the cardiovascular system. Currently, there is no cure for PKD. However, several treatments are available to manage the symptoms and complications of the disease. These treatments include medications to control blood pressure, pain relievers, antibiotics for infections, and dialysis or kidney transplantation for kidney failure. Tolvaptan is the only FDA-approved drug specifically for ADPKD and has been shown to slow disease progression. In addition to summarizing current treatment options, this review will discuss promising future treatments, such as gene therapy and stem cell therapy. 展开更多
关键词 Polycystic Kidney Disease Autosomal Dominant Autosomal Recessive End-Stage Renal Disease EPIDEMIOLOGY PATHOPHYSIOLOGY Cardiovascular Diseases
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Skeletal abnormalities caused by a Connexin43_(R239Q)mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia
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作者 Yasuyuki Fujii Iichiro Okabe +7 位作者 Ayano Hatori Shyam Kishor Sah Jitendra Kanaujiya Melanie Fisher Rachael Norris Mark Terasaki Ernst J.Reichenberger I-Ping Chen 《Bone Research》 2025年第2期370-383,共14页
Craniometaphyseal dysplasia(CMD),a rare craniotubular disorder,occurs in an autosomal dominant(AD)or autosomal recessive(AR)form.CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of lo... Craniometaphyseal dysplasia(CMD),a rare craniotubular disorder,occurs in an autosomal dominant(AD)or autosomal recessive(AR)form.CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of long bones.Many patients with CMD suffer from neurological symptoms.The pathogenesis of CMD is not fully understood. 展开更多
关键词 connexin r q mutation mouse model hyperostosis craniofacial bones metaphyseal flaring craniometaphyseal dysplasia skeletal abnormalities autosomal recessive craniotubular disorderoccurs
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Design and Effectiveness of Coastal Protection Structures:Case Studies and Modelling Approaches
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作者 Leo C.van Rijn 《Journal of Environmental & Earth Sciences》 2025年第5期72-95,共24页
Beach groynes are structures for erosion protection along sandy coasts near inlets and can reduce the coastal erosion substantially,but open groynes cannot stop erosion completely because sand can be removed from the ... Beach groynes are structures for erosion protection along sandy coasts near inlets and can reduce the coastal erosion substantially,but open groynes cannot stop erosion completely because sand can be removed from the groyne compartments by cross-shore processes.Beach groynes should be designed with sufficient bypassing of sand to minimise erosion.Regular beach maintenance is required to keep a sufficient beach width for recreational purposes.The effectiveness of groyne compartments can be significantly improved by using T-head groynes or by using a submerged sill or breakwater in between the groynes.An economic evaluation shows that the beach maintenance costs over 50 years may be substantially higher than the construction costs of a submerged breakwater.An important parameter to be studied is the longshore transport,which requires detailed information of the wave climate,preferably based on measured data(offshore buoys)in combination with deep water wave modelling.Various models have been used to determine the net longshore sand transport and coastline changes.The design of groynes to reduce coastal erosion is illustrated by three field cases(Atlantic coast near Soulac,France;Lagos coast,Nigeria and Black Sea coast,Romania).These example cases show that beach groynes are effective structures,but sufficient bypassing of longshore sand transport is essential to minimise erosion.Regular beach fills in the groyne compartments may be required at high-energy(exposed)coasts.A submerged or emerged breakwater can be built between the groynes to protect the beach in the groyne compartments against erosion by cross-shore processes. 展开更多
关键词 Coastal Protection Structures Coastal Recession Coastal Erosion Modelling
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Effects of modified Yokoyama surgery combined with medial rectus muscle recession on esotropia in highly myopia athletes
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作者 Zi-Yang He Tan Cui +3 位作者 Zhi-Qi Cui Hui-Xia Yan Mei-Xuan Chen Hao Luo 《World Journal of Clinical Cases》 2025年第21期34-41,共8页
BACKGROUND Fixed esotropia in high myopia,characterized by irreversible inward ocular deviation and abduction limitation,presents unique therapeutic challenges for athletes requiring precise binocular coordination.The... BACKGROUND Fixed esotropia in high myopia,characterized by irreversible inward ocular deviation and abduction limitation,presents unique therapeutic challenges for athletes requiring precise binocular coordination.The combination of Yokoyama surgery and medial rectus muscle recession has been proposed as an advanced technique addresses both myopia-induced globe displacement and muscular imbalance offering potential advantages over conventional strabismus surgery in this population.AIM To investigate the effects of the modified Yokoyama surgery coupled with medial rectus muscle recession in restoring ocular motility and correcting esotropia among athletes with high myopia and fixed esotropia.METHODS A retrospective study analyzed 30 highly myopia athletes(57 eyes)with fixed esotropia treated at our hospital from January 2022 to April 2024.The participants were allocated into two groups based on the surgical method:The traditional group(n=15,29 eyes)received conventional strabismus surgery,and the combined group(n=15,28 eyes)underwent modified Yokoyama surgery in combination with medial rectus muscle recession.Eye movement improvement,esotropia alleviation,and complications were compared preoperatively and at 1,3,and 6 months post-treatment.RESULTS Both surgical groups exhibited similar baseline scores(traditional:-4.04±0.38 vs combined:-4.12±0.45,P>0.05),showing severe preoperative limitations in ocular motility.Following the intervention,the combined group achieved significantly better outcomes at both 1 month(combined:-2.25±0.28 vs traditional:-2.67±0.32)and 3 months(combined:-1.48±0.28 vs traditional:-1.76±0.43),with statistically significant improvements(P<0.05).However,by 6 months,no significant difference was observed between the two groups(combined:-0.93±0.13;traditional:-1.03±0.18;P>0.05).Prior to treatment,all patients in both groups exhibited a compensatory head posture(CHP).Following treatment,the incidence of CHP decreased to 6.67%in the combined group and 20.00%in the traditional group,both reductions being significant compared to pretreatment levels(P<0.05).Nevertheless,the difference in CHP incidence between the two groups after treatment was not significant(P>0.05).The rates of improvement in esotropia showed an increasing trend in both groups at 1 month(46.43%vs 34.48%),3 months(78.57%vs 51.728%),and 6 months(100.00%vs 89.66%)post-treatment.Notably,the combined group had a significantly higher improvement rate than the traditional group at the 3-month follow-up(P<0.05).No significant difference was observed in the esotropia improvement rates between the two groups at 1 and 6 months post-treatment(P>0.05).The combined group experienced slightly lower but not significant(combined group:0.00%vs traditional:3.45%)as opposed to the traditional group(3.45%;P>0.05).CONCLUSION The combination of modified Yokoyama surgery and medial rectus muscle recession provides effective and safe approach to improving in eye movement and esotropia in athletes with high myopia and fixed esotropia,offering reliable clinical benefits. 展开更多
关键词 High myopia with fixed esotropia ATHLETE Eye movement Modified Yokoyama surgery Medial rectus muscle recession
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Comprehensive analysis of glacier recession(2000-2020)in the Nun-Kun Group of Glaciers,Northwestern Himalaya 被引量:1
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作者 Shakil Ahmad ROMSHOO Ummer AMEEN +1 位作者 Mustafa Hameed BHAT Tariq ABDULLAH 《Journal of Mountain Science》 SCIE CSCD 2024年第3期768-785,共18页
Himalayan glaciers are shrinking rapidly,especially after 2000.Glacier shrinkage,however,shows a differential pattern in space and time,emphasizing the need to monitor and assess glacier changes at a larger scale.In t... Himalayan glaciers are shrinking rapidly,especially after 2000.Glacier shrinkage,however,shows a differential pattern in space and time,emphasizing the need to monitor and assess glacier changes at a larger scale.In this study,changes of 48 glaciers situated around the twin peaks of the Nun and Kun mountains in the northwestern Himalaya,hereafter referred to as Nun-Kun Group of Glaciers(NKGG),were investigated using Landsat satellite data during 2000-2020.Changes in glacier area,snout position,Equilibrium Line Altitude(ELA),surface thickness and glacier velocity were assessed using remote sensing data supplemented by field observations.The study revealed that the NKGG glaciers have experienced a recession of 4.5%±3.4%and their snouts have retreated at the rate of 6.4±1.6 m·a^(-1).Additionally,there was a 41%increase observed in the debris cover area during the observation period.Using the geodetic approach,an average glacier elevation change of-1.4±0.4 m·a^(-1)was observed between 2000 and 2012.The observed mass loss of the NKGG has resulted in the deceleration of glacier velocity from 27.0±3.7 m·a^(-1)in 2000 to 21.2±2.2 m·a^(-1)in 2020.The ELA has shifted upwards by 83.0±22 m during the period.Glacier morphological and topographic factors showed a strong influence on glacier recession.Furthermore,a higher recession of 12.9%±3.2%was observed in small glaciers,compared to 2.7%±3.1%in larger glaciers.The debris-covered glaciers showed lower shrinkage(2.8%±1.1%)compared to the clean glaciers(9.3%±5%).The glacier depletion recorded in the NKGG during the last two decades,if continued,would severely diminish glacial volume and capacity to store water,thus jeopardizing the sustainability of water resources in the basin. 展开更多
关键词 Nun-Kun range Glacier recession Glacier snout Remote Sensing HIMALAYA Glacier velocity
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Novel approach of ultrasound-guided lateral recess block for a patient with lateral recess stenosis: A case report 被引量:1
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作者 Jiao Yang Xin-Ling Li Qing-Bing Li 《World Journal of Clinical Cases》 SCIE 2024年第5期1010-1017,共8页
BACKGROUND Ultrasound guide technology,which can provide real-time visualization of the needle tip and tissues and avoid many adverse events,is widely used in mini-mally invasive therapy.However,the studies on ultraso... BACKGROUND Ultrasound guide technology,which can provide real-time visualization of the needle tip and tissues and avoid many adverse events,is widely used in mini-mally invasive therapy.However,the studies on ultrasound-guided Lateral recess block(LRB)are limited,this is probably because there is no recognized standard method for ultrasound scanning.This study aimed to evaluate the effect of ultrasound-guided LRB in patients with lateral recess stenosis(LRS).CASE SUMMARY A 65-year-old patient complained of low back pain accompanied occasionally by pain and numbness in the left lower limb.Physical examination showed ten-derness on the spinous process and paraspinal muscles from L1 to S1,extensor hallucis longus and tibialis anterior weakness(muscle strength:4-),and a positive straight leg raising test in the left lower limb(60°).Magnetic resonance imaging showed L4–L5 disc degeneration with left LRS and nerve root entrapment.Subsequently,the patient was diagnosed with LRS.This patient was treated with a novel ultrasound-guided LRB approach.The patient’s symptoms significantly improved without any complications at 1 wk postoperatively and at the 3-month follow-up.CONCLUSION This is the first report on the LRS treatment with ultrasound-guided LRB from the contralateral spinous process along the inner side of the articular process by out-plane technique.Further studies are expected to investigate the efficacy and safety of ultrasound-guided LRB for patients with LRS. 展开更多
关键词 Lateral recess stenosis ULTRASOUND Lateral recess block Real-time visualization Low back pain Case report
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3M syndrome patient with a novel mutation:A case rep 被引量:1
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作者 Ming-Ran Luo Si-Ming Dai +7 位作者 Yin Li Qian Wang Hao Liu Peng Gao Jia-Yun Liu Jian Chen Shu-Jie Zhao Guo-Yong Yin 《World Journal of Clinical Cases》 SCIE 2024年第8期1454-1460,共7页
BACKGROUND A rare autosomal recessive genetic disorder,3M syndrome,is characterized by severe intrauterine and postnatal growth retardation.Children with 3M syndrome typically exhibit short stature,facial deformities,... BACKGROUND A rare autosomal recessive genetic disorder,3M syndrome,is characterized by severe intrauterine and postnatal growth retardation.Children with 3M syndrome typically exhibit short stature,facial deformities,long tubular bones,and high vertebral bodies but generally lack mental abnormalities or other organ damage.Pathogenic genes associated with 3M syndrome include CUL7,OBSL1 and CCDC8.The clinical and molecular characteristics of patient with 3M syn-drome are unique and serve as important diagnostic indicators.CASE SUMMARY In this case,the patient displayed square shoulders,scoliosis,long slender tubular bones,and normal neurological development.Notably,the patient did not exhibit the typical dysmorphic facial features,relative macrocephaly,or growth retardation commonly observed in individuals with 3M syndrome.Whole exon sequencing revealed a novel heterozygous c.56681+1G>C(Splice-3)variant and a previously reported nonsense heterozygous c.3341G>A(p.Trp1114Ter)variant of OBSL1.Therefore,it is important to note that the clinical features of 3M syndrome may not always be observable,and genetic confirmation is often required.Additionally,the identification of the c.5683+1G>C variant in OBSL1 is notewor-thy because it has not been previously reported in public databases.CONCLUSION Our study identified a new variant(c.5683+1G>C)of OBSL1 that contributes to expanding the molecular profile of 3M syndrome. 展开更多
关键词 3M syndrome CUL7 OBSL1 CCDC8 Autosomal recessive Case report
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Identifying flow regime in the aquifer of fractured rock system in Germi Chai Basin,Iran
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作者 VAEZIHIR Abdorreza SEPEHRIPOUR Ali TABARMAYEH Mehri 《Journal of Mountain Science》 SCIE CSCD 2024年第2期574-589,共16页
Considering the importance of fractured rock aquifers in the hydrogeologic process,this research aimed to analyze the flow regime,internal degree of karstification,and estimate storage volume in fractured rock aquifer... Considering the importance of fractured rock aquifers in the hydrogeologic process,this research aimed to analyze the flow regime,internal degree of karstification,and estimate storage volume in fractured rock aquifers of the Germi Chai Basin in northwest Iran,which is attributed to its active tectonics,erosion,and the lithological diversity.Given the geological setting,the hypothesis is that this basin is characterized by a high degree of karstification and diffuse or intermediate flow regime leading to variation in discharge flow rate.The hydrodynamic and hadrochemical analysis was conducted on 9 well distributed springs across the basin from 2019 to 2020.The maximum flow rate in most of the springs appeared in the early wet season despite their different levels of fluctuations on the monthly discharge time series.Analyzing the spring recession curve form revealed an aquifer containing multiple micro-regimes withαrecession coefficients and a degree of karstification ranging between 0.001 to 0.06 and 0.55 to 2.61,respectively.These findings indicated a dominant diffuse and intermediate flow system resulting from the development of a high density of fractures in this area.The electrical conductivity of the spring changes inversely proportional to the change in flow discharge,indicating the reasonable hydrological response of the aquifer to rainfall events.Hydrograph analysis revealed that the delay time of spring discharge after rainfall events mostly varies between 10 to 30 days.The total dynamic storage volume of the spring for a given period(2019-2020)was estimated to be approximately 1324 million cubic meters reflecting the long-term drainage potential and high perdurability of dynamic storage.Estimating the maximum and minimum ratio revealed that the springs recharging system in Germi Chai Basin comes under the slow aquifers category.This finding provides valuable insight into the hydrogeological properties of fractured rock aquifers contributing to effective water management strategy. 展开更多
关键词 Fractured rock aquifer Hydrodynamic and hadrochemical analysis Germi Chai Basin Recession coefficient
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Ecological function transitions of land use in the Beibu Gulf Economic Zone from the perspective of production-living-ecological space
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作者 ZHOU Guipeng LONG Hualou +1 位作者 JIANG Yanfeng TU Shuangshuang 《Journal of Geographical Sciences》 SCIE CSCD 2024年第11期2212-2238,共27页
The ecological function of land use is the basis for developing an ecological civilization and realizing sustainable development.This paper may help guide the coordination of economic development and ecological develo... The ecological function of land use is the basis for developing an ecological civilization and realizing sustainable development.This paper may help guide the coordination of economic development and ecological development in China’s coastal border areas.Based on theoretical analysis,this paper studies the spatiotemporal evolution of the functional spaces and the ecological function transitions of land use in the Beibu Gulf Economic Zone(BGEZ)by analyzing patterns,processes,and factors by applying eco-environmental quality index,grid subdivision,kriging interpolation,barycenter model,and Geodetector.This paper constructs a theoretical framework of ecological function transitions of land use based on the research idea of“system-pattern-process-factor”,and carries out empirical research.Some conclusions can be drawn as follows:(1)The ecological space in the BGEZ has continuously decreased,converting mainly into agricultural production space and industrial-mining production space.The production space has expanded slowly.The area of living space in the BGEZ has increased rapidly.(2)The ecological function of land use in the BGEZ has continued to weaken,especially in the southern part of the BGEZ.The“high-sub-high”quality zones of ecological function are retreating to the north.(3)There were more deterioration transition areas than optimization transition areas of ecological function in the BGEZ.The former were mostly located in the central and southern urbanized areas of the BGEZ,whereas the latter were mostly located in the edge zones of district and county units.(4)As for the driving factors of the deterioration transitions of land use ecological function in the BGEZ,the significant trend of“de-ecologization”of the land cover/land use structure was the dominant driving factor;the interactions among the“natural-socioeconomic-managerial”systems were the main recessive factor.The natural system played a fundamental role,and the driving force of natural factors was the strongest.The industrialization,urbanization,and GDP increment in the socioeconomic system and the policy positioning of development intensity in the managerial system played a significant role.The interactions among natural factors,road construction,and industrial non-agricultural transformation had a“fuze”effect on stimulating driving forces. 展开更多
关键词 land use transitions ecological function eco-environmental quality production-living-ecological spaces dominant and recessive factors Beibu Gulf
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Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing
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作者 Jia-xun LI Ling-rui MENG +6 位作者 Bao-ke HOU Xiao-lu HAO Da-jiang WANG Ling-hui QU Zhao-hui LI Lei ZHANG Xin JIN 《Current Medical Science》 SCIE CAS 2024年第2期419-425,共7页
Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on ... Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on electrooculogram.The potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and photoreceptor.In this study,the complete clinical characteristics of two Chinese ARB families were summarized.Methods:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family members.Results:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB families.The novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of bestrophin-1.Another novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional regulators.Conclusion:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific genes.The novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population. 展开更多
关键词 autosomal recessive bestrophinopathy BEST1 gene third-generation sequencing MUTATION
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New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy
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作者 Wen-Chao Cao Qing-Shan Chen +2 位作者 Run Gan Tao Huang Xiao-He Yan 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2024年第1期107-112,共6页
AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1.METHODS:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 m... AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1.METHODS:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 maculopathy.Targeted sequence capture array technique was used to screen potential pathologic variants.Polymerase chain reaction and Sanger sequencing were used to confirm the screening results.RESULTS:Fundus examination showed round macular lesions appeared in both eyes.Optical coherence tomography showed that the inner segment/outer segment continuity was disorganized and disruptive in the left eye,but it was uneven and slightly elevated in the right eye.Fundus autofluorescence showed patchy hyper-autofluorescence in the macula.Visual field examination indicates central defects in both eyes.Electroretinogram(ERG)and multifocal ERG showed no obvious abnormalities.Fundus fluorescein angiography in the macula showed obviously irregular hyper-fluorescence in the right eye and slightly hyper-fluorescence in the left eye.We found that the proband carried a missense variant(c.1972C>T)and a deletion variant(c.4717_4718del)of RP1L1,which were originated from the parents and formed compound heterozygous variants.Both variants are likely pathogenic according to the ACMG criteria.Multimodal imaging,ERG and detailed medical history are important diagnostic tools for differentiating between acquired and inherited retinal disorders.CONCLUSION:A maculopathy case with detailed retinal phenotype and new recessive compound heterozygous variants of RP1L1 is identified in a Chinese family,which expands the understanding of phenotype and genotype in RP1L1 maculopathy. 展开更多
关键词 MACULOPATHY RECESSIVE compound heterozygous variants RP1L1
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Factors that influence the results of indirect decompression employing oblique lumbar interbody fusion
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作者 Andrey E Bokov Svetlana Y Kalinina +2 位作者 Mingiyan I Khaltyrov Alexandr P Saifullin Anatoliy A Bulkin 《World Journal of Orthopedics》 2024年第8期734-743,共10页
BACKGROUND Indirect decompression is one of the potential benefits of anterior reconstruction in patients with spinal stenosis.On the other hand,the reported rate of revision surgery after indirect decompression highl... BACKGROUND Indirect decompression is one of the potential benefits of anterior reconstruction in patients with spinal stenosis.On the other hand,the reported rate of revision surgery after indirect decompression highlights the necessity of working out prediction models for the radiographic results of indirect decompression with assessing their clinical relevance.AIM To assess factors that influence radiographic and clinical results of the indirect decompression in patients with stenosis of the lumbar spine.METHODS This study is a single-center cross-sectional evaluation of 80 consecutive patients(17 males and 63 females)with lumbar spinal stenosis combined with the instability of the lumbar spinal segment.Patients underwent single level or bisegmental spinal instrumentation employing oblique lumbar interbody fusion(OLIF)with percutaneous pedicle screw fixation.Radiographic results of the indirect decompression were assessed using computerized tomography,while MacNab scale was used to assess clinical results.RESULTS After indirect decompression employing anterior reconstruction using OLIF,the statistically significant increase in the disc space height,vertebral canal square,right and left lateral canal depth were detected(Р<0.0001).The median(M)relative vertebral canal square increase came toМ=24.5%with 25%-75%quartile border(16.3%;33.3%)if indirect decompression was achieved by restoration of the segment height.In patients with the reduction of the upper vertebrae slip,the median of the relative increase in vertebral canal square accounted for 49.5%with 25%-75%quartile border(2.35;99.75).Six out of 80 patients(7.5%)presented with unsatisfactory results because of residual nerve root compression.The critical values for lateral recess depth and vertebral canal square that were associated with indirect decompression failure were 3 mm and 80 mm2 respectively.CONCLUSION Indirect decompression employing anterior reconstruction is achieved by the increase in disc height along the posterior boarder and reduction of the slipped vertebrae in patients with degenerative spondylolisthesis.Vertebral canal square below 80 mm2 and lateral recess depth less than 3 mm are associated with indirect decompression failures that require direct microsurgical decompression. 展开更多
关键词 Indirect decompression Anterior reconstruction Central lumbar spinal stenosis Degenerative spondylolisthesis Lateral recess stenosis Spinal instability Oblique lateral interbody fusion
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Methylmalonic Acidemia: An Unusual Cause of Chronic Renal Disease in Adults
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作者 Kamel El Reshaid Abdulrahman Al Kanderi 《Open Journal of Nephrology》 2024年第3期334-339,共6页
Background: Methylmalonic aciduria (MMA) is a genetic disorder of aminoacid metabolism, due to mutations in methylmalonyl-CoA mutase, which leads to the accumulation of methylmalonic acid in body fluids. Patients typi... Background: Methylmalonic aciduria (MMA) is a genetic disorder of aminoacid metabolism, due to mutations in methylmalonyl-CoA mutase, which leads to the accumulation of methylmalonic acid in body fluids. Patients typically present at the age of 1 month to 1 year with dehydration, renal impairment as well as neurologic manifestations viz. seizure, encephalopathy, strokes and disease in the globus pallidi. The case: a 26-year-old man presented with severe acute on top of chronic renal disease with serum creatinine at 590 umol/L and bilateral 8 cm kidneys with thin and echogenic cortex. He had: (a) hypernatremic dehydration, metabolic acidosis and high ammonia level with (b) a history of multiple similar attacks since the age of 8 months. Diagnosis of MMA was confirmed by high serum and urine enzymatic levels as well as genetic testing. His initial management included support with replacements of fluids, electrolytes, and bicarbonates as well as intravenous dextrose, vitamin B12 and broad-spectrum antibiotic (Meropenem) for his chest infection. Subsequently, he received 1) CARBAGLU (carglumic acid) for 7 days to lower his ammonia level to Conclusion: Untreated homozygous MMA variants, can achieve adulthood with significant renal disease yet their morbidity and mortality can be ameliorated with diet and specific therapy. 展开更多
关键词 Methylmalonic Acidemia Kidney Failure Metabolic Acidosis Autosomal Recessive Amino Acid Disorder Kreps Cycle Hyperammonia Vitamin 12 CARNITINE
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Searching Development-deficient Genes in Edible Mushroom by Self-crossing 被引量:4
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作者 柴红梅 周会明 +2 位作者 赵静 陈卫民 赵永昌 《Agricultural Science & Technology》 CAS 2012年第10期2037-2043,共7页
[Objective] This study aimed to investigate the effect of mating factor recombination on the development of edible mushroom,and explore the possibility for using self-crossing to breed sporeless/low sporing mushroom s... [Objective] This study aimed to investigate the effect of mating factor recombination on the development of edible mushroom,and explore the possibility for using self-crossing to breed sporeless/low sporing mushroom strains.[Method] Selecting Agrocybe salicacola strain YAASM0711 as the self-crossing material,six self-crossed combinations were directionally constructed with single spore growth rate as an indicator,to carry out comprehensive analysis of the qualitative traits(color,deformity and growth characteristics),quantitative traits(shape,yield,size and number of fruit bodies) and mating types of its self-crossed F1 progenies.[Result] After mating factor recombination,self-crossed single spore progenies showed serious genetic differentiation,the average mycelial growth rate and agronomic traits of inbred progenies were lower than those of the parents.The phenotype in fruiting body formation could be divided into normal fruiting and abnormal fruiting(including abnormal fruiting bodies,sporeless or low sporing fruiting bodies,no fruiting).To be specific,18% self-crossed strains had superior agronomic traits to the parents,which can be used for selecting predominant strains from self-crossed progeny populations based on different breeding purposes.[Conclusion] The genes controlling mycelial growth rate of single spore were linked with mating factors.The mating factor-recombinant single spore strains could be selected according to the correlation between mating type and growth rate.The fruiting result of self-crossed strains indicated that the genes related to sporeless/low sporing development were recessive.Not only genetic materials harboring development-deficient genes in edible mushroom can be obtained by self-crossing,but also the sporeless/low sporing mutant strains with important application prospects can be bred. 展开更多
关键词 Agrocybe salicacola Self-crossing Fruiting identification Sporeless Recessive gene
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Molecular Markers and Agronomic Traits of a New Kind of Genic Male Sterile Material Mian 7AB-4-2 in Brassica napus L. 被引量:1
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作者 李浩杰 汤天泽 +4 位作者 袁代斌 蒙大庆 蒲晓斌 张锦芳 蒋梁材 《Agricultural Science & Technology》 CAS 2009年第1期60-63,152,共5页
[ Objective] The study was to investigate the agronomic traits and breeding characteristics of genic male sterile material Mian 7AB-4- 2 in Brassica napus. [ Method] The differences in agronomic traits and polymorphis... [ Objective] The study was to investigate the agronomic traits and breeding characteristics of genic male sterile material Mian 7AB-4- 2 in Brassica napus. [ Method] The differences in agronomic traits and polymorphisms in SSR markers, between the genic male sterile material Mian 7AB-4-2 in Brassica napus and its sisterly line Mian 7AB-4-1 were investigated by hybridization and molecular identification; and the percentage of sterile individuals of Mian 7AB-4-2 and of the hybrids with its sisterly line Mian 7AB-4-1 from test cross and back cross were also studled. [ Result] Mian 7AB-4-2 was not significantly different in agronomic traits from its sisterly line Mian 7AB-4-1 at 0.05 probability level. The per- centages of sterile individuals in the pollinated fertile Mian 7AB-4-2 plants were over 60%, and that in its sisterly line Mian 7AB-4-1 was about 25%. In test crosses with other nine sterile lines, Mian 7AB-4-1 kept the percentage of sterile individuals of sterile lines over 90%, and the percentage of sterile individuals from back cross over 80%. With regard to molecular markers, Mian 7AB-4-2 and its sisterly line Mian 7AB-4-1 were different in the band number from SSR primers a2 and E10. [ Conclusion] The results indicate that Mian 7AB-4-2 is helpful for rapeseed breeding, quickening the application of new materials in field breeding. 展开更多
关键词 Brassica napus L. Recessive genic male sterility Self-pollination of fertile individual Test cross Back cross SSR marker POLYMORPHISM
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Primary Study on Reasons for the Growth Re-cession of Fragrant Camphor Trees at the West Lake Scenic Area and Diagnosis Procedure 被引量:1
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作者 肖昆仑 《Agricultural Science & Technology》 CAS 2013年第3期470-474,共5页
Fragrant camphor tree is the city tree of Hangzhou which takes a large proportion of the ancient trees in Hangzhou City. Recently, with the free open of the attractions around the West Lake and the implementation of t... Fragrant camphor tree is the city tree of Hangzhou which takes a large proportion of the ancient trees in Hangzhou City. Recently, with the free open of the attractions around the West Lake and the implementation of the comprehensive pro- ject for protecting the West Lake, a part of ancient fragrant camphor trees are fac- ing problems such as altered living conditons. Some of them are showing a decline in growth vigor or even close to death, which will produce extremely negative influ- ences on the maintaining and sustainable development of the West Lake Scenic Area if without any timely measures for the rescue and rejuvenation of the trees. Therefore, strengthening the protection and management of ancient fragrant camphor trees at the West Lake Scenic Area and carrying out researches on the procedure for diagnosing the reasons for the growth recession of the ancient fragrant camphor trees at the West Lake Scenic Area are of great significance for the future protec- tion and rejuvenation of the ancient trees around the West Lake. The factors influ- encing the growth of ancient trees and indexes for judging the growth condition were listed and the reasons for the growth recession were systematically summa- rized in this paper. In addition, measures for the rejuvenation of the ancient fragrant camphor trees were also simply discussed. 展开更多
关键词 The West Lake Scenic Area Fragrant camphor tree Growth and recession REJUVENATION
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Square Logistic Model for the Appearance of Lethal Recessive Homozygous Genotype in Random Mating Population
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作者 韦文惠 王子平 +2 位作者 林建国 蔡润 李大林 《Agricultural Science & Technology》 CAS 2008年第3期1-5,共5页
From the random mating population of maize, the relationship between heterosis and albino seedling was analyzed by means of mathematical theory, further the square logistic model for the appearance of lethal recessive... From the random mating population of maize, the relationship between heterosis and albino seedling was analyzed by means of mathematical theory, further the square logistic model for the appearance of lethal recessive homozygous genotype was deduced. The model shows that heterosis can determine the genetic structure and proportion of population. It approves, that the proportion of aa in each generation of maize seedlings shows a similar Logistic curve in growth process till equilibrium, so long as Aa containins lethal gene a from mutation presents heterosis. The ratio of equilibrium state of aa is determined by the ratio of AA-Aa fitness. Heterosis is helpful for the keeping of genetic diversity of population. 展开更多
关键词 Fitness RECESSIVE LETHAL HETEROSIS Random MATING Equilibrium
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Drug Sensitive Test on Main Pathogenic Bacteria of Cow Recessiveness Mastitis Using Traditional Chinese Medicine Preparation “Zengrujianniusan”
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作者 高桂生 安继伟 +5 位作者 胡铁锋 高光平 史秋梅 张艳英 邵新华 梁银聚 《Agricultural Science & Technology》 CAS 2017年第2期277-279,共3页
According to the theory of Chinese veterinary medicine and characteristics of Chinese herbal medicine, four different preparations of compound Chinese medicine "Zengrujianniusan" were composed, and the prepared wate... According to the theory of Chinese veterinary medicine and characteristics of Chinese herbal medicine, four different preparations of compound Chinese medicine "Zengrujianniusan" were composed, and the prepared water decoction was used to carry on the bacteriostatic test on main pathogens of cow recessiveness mastitis. The results showed that the four different prescriptions of water decoction all had antibacterial effects. The prescription 3 was sensitive to Staphylococcus aureus and Streptococcus agalactiae, while the other three prescriptions showed high sensitivity, and the prescription 3 had the strongest bacteriostatic effects. 展开更多
关键词 Traditional Chinese medicine preparation Cow recessiveness mastitis Pathogenic bacteria Bacteriostatic effect
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Nutritional Quality of the Maize Combinations with Mutant Gene opaque-2 (o2)
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作者 宋丽雅 陈亮 +4 位作者 何聪芬 赵刚 白鹏飞 陈岩 常驰 《Agricultural Science & Technology》 CAS 2012年第6期1179-1183,1202,共6页
[Objective] This study aimed to investigate the action of mutant gene o2 and its effect on nutritional quality of different maize combinations. [Method] A total of 33 normal maize combinations from 18 inbred lines wer... [Objective] This study aimed to investigate the action of mutant gene o2 and its effect on nutritional quality of different maize combinations. [Method] A total of 33 normal maize combinations from 18 inbred lines were compared with 33 combinations including gene o2 from the corresponding o2 near-isogenic lines (o2-NILs), to study the effect of o2 gene introduction on maize grain quality. [Result] The contents of lysine, protein and oil in o2-NILs were greatly more than that of normal maize combinations. Except for lysine, contents of other 14 amino acids changed when o2 gene was introduced. Contents of aspartic acid, threonine, glycine, isoleucine, histidine, arginine and proline were improved; while contents of serine, glutamic acid, alanine, valine, leucine, tyrosine and phenylalanine were decreased. Correlation analysis showed that contents of aspartic acid, arginine and threonine had the highest correlation with lysine content. Protein and oil contents had higher correlation with lysine content (0.48 and 0.38). Analysis of 33 o2-NILs revealed that the o2 combinations CAL58×Ji477and CA156×196 showed high comprehensive quality and high yield with greater development potential. [Conclusion] This study will provide theoretical and material basis for improving the quality of temperate maize germplasm by introducing o2 gene. 展开更多
关键词 Corn Opaque-2 homozygous recessive mutant gene (o2) LYSINE Amino acids Protein
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Aesthetic Effect of Bamboos in Landscape Design
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作者 张伏虎 《Journal of Landscape Research》 2012年第2期21-22,25,共3页
In the perspective of dominant and recessive beauty,the aesthetic effect of bamboos in landscape design has been illustrated from four aspects,which are"bamboos leading to a secluded spot"and"simplicity... In the perspective of dominant and recessive beauty,the aesthetic effect of bamboos in landscape design has been illustrated from four aspects,which are"bamboos leading to a secluded spot"and"simplicity and magnificence","bamboos at windows"and"bamboo shadows on white walls","bamboos,waters,rocks and plants setting each other off"and literati's feeling about bamboos.On this basis,by combining with different characteristics of Chinese and western landscapes,the paper has proposed the application tendency of bamboos in landscape design,and emphasized integrating the essence of Chinese traditional landscape with western rational theory,so as to create more appealing bamboo landscapes. 展开更多
关键词 AESTHETIC EFFECT DOMINANT BEAUTY RECESSIVE BEAUTY
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