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GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation

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Chinese Medical Journal 2004年第12期17卷 1797-1801页

作者：肖自安谢鼎华 Department of Otolaryngology & Hearing Research Laboratory Second Xiangya Hospital Xiangya School of Medicine Central South University Changsha 410011 China

Background Mutations in GJB2 gene are a major cause of autosomal recessive congenital hearing loss and the cause in some rare cases of the autosomal dominant form The purpose of this study was to investigate the frequency and the features of GJB2 mutations in the Chinese patients with congenital sensorineural deafness Methods Using PCR amplifying the entire coding region of GJB2 gene and direct DNA sequencing to analyze mutations in this gene among unrelated 69 cases with autosomal recessive congenital nonsyndromic deafness and 27 cases of dominant congenital deafness and 35 sporadic cases We also detected mutations in GJB2 in 100 control subjects with normal hearing Results 17 4% (12/69) of the probands in the autosomal recessive, 7 4% (2/27) of dominant families and 5 7% (2/35) of the sporadic congenital deafness patients had deafness causing mutations in GJB2, respectively Nine types of the mutations in GJB2 were detected in the recessive and sporadic group They consisted of five types of polymorphism, and four types of deafness causing mutation with homozygous 35delG in 1 sporadic (1/35), and 235delC frameshift mutation in 1 sporadic (homozygotes) and 10 recessive patients (2 heterozygotes and 8 homozygotes), and homozygous 442G→A missense mutation and homozygous 465T→A nonsense mutation in 1 different recessive proband, respectively The 465T→A that related to recessive deafness was a novel mutation found by this study The homozygous (10/69, 14 5%) and the heterozygous (2/69, 2 9%) GJB2 mutation in the recessive patients (12/69, 17 4%) and the homozygotes in the sporadic patient (2/35, 5 7%) all had congenital severe to profound sensorineural hearing loss 511G→A missense mutation and 299-300delAT frameshift mutation were found in two autosomal dominant congenital deafness families (2/27, 7 4%) The total mutation frequency of GJB2 was 12 2% (16/131) in the Chinese patients with congenital sensorineural deafness and 235delC was the most common deafness causing mut

关键词： hereditary hearing loss sensorieural genes GJB2 mutation

GENERALIZATIONS AND CARTESIAN CLOSED SUBCATEGORIES OF SEMICONTINUOUS LATTICES

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Acta Mathematica Scientia 2009年第5期29卷 1366-1374页

作者：李庆国伍秀华 College of Mathematics and Econometrics Hunan University

In this article, the authors mainly study how to obtain new semicontinuous lattices from the given semicontinuous lattices and discuss the conditions under which the image of a semicontinuous projection operator is also semicontinuous. Moreover, the authors investigate the relation between semicontinuous lattices and completely distributive lattices. Finally, it is proved that the strongly semicontinuous lattice category is a Cartesian closed category.

关键词： semicontinuous lattices strongly semicontinuous lattices semicontinuous mapping hereditary function space Cartesian closed category

Anticipation phenomenon in familial adenomatous polyposis:an analysis of its origin

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World Journal of Gastroenterology 2000年第3期6卷 335-338页

作者： Takeo Iwama Joji Utsunomiya Department of Surgery Kyoundo HospitalSasaki Institute KandaSurugadai 1-8Chiyoda-KuTokyo 101-0062Japan Institute for Advanced Medical Sciences Hyogo Medical College Mukogawa 1-1NisinomiyaHyogo 663-8131Japan

AIM To analyze the origin of the anticipationphenomenon,which means earlier death insuccessive generation in familial *** The study subjects were 2161patients with familial adenomatous polyposisand their 7465 first-degree relatives who weremembers of 750 families registered at ourPolyposis *** ages at death andcumulative mortality rates in the parent,theproband,and the child generations werecompared for both all subjects and the *** In the patients over 5 years of age,the mean age at death was 50.9 years for theparent,42.3 years for the proband,and 33.3years for the child generations,respectively(P<0.001).The deceased rates in the threegenerations were 90.7%,51.3% and 23.1% ofthe patients,respectively,and this differencewas the main cause of the anticipation measuredby parent-child paring *** cumulativemortality rates for all subjects failed to showanticipation,however the cumulative mortalityrates for the patients showed the *** anticipation phenomenon was shown by anyparent-child pairing methods for the *** important causes of theanticipation were different proportion of causesof death between generations(P<0.001),and alow proportion of detected or deceased patients (P<0.001)in the child *** Anticipation in familialadenomatous polyposis may be caused byparent-child paring methods as well as severalintergenerational biases.

关键词： familial adenomatous apolyposis (FAP) anticipation phenomenon intergenerational bias child generations hereditary disorder mortality

Generic modules for tilted algebras

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Chinese Science Bulletin 1997年第3期42卷 177-180页

作者： DU XiannengDepartment of Mathematics, Anhui University, Hefei 230039, China Department of Mathematics Anhui University Hefei China

IN the theory of infinite abelian groups, the concepts of torsion-free groups and divisible groups are well known. We know that there exists, up to isomorphism, one and only one abelian group which is both torsion-free and divisible at the same time. This is the additive group Q of the rational numbers. Q plays an important role in the study of infinite-abelian groups. The theory of infinite-dirnensional modules over a finite-dimensional algebra runs similarly to the theory of infinite abelian groups but there are also some substantial differences.

关键词： tilting modules tilted algebras tame hereditary algebras generic modules.

Uncoupling neurotrophic function from nociception of nerve growth factor: what can be learned from a rare human disease?

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Neural Regeneration Research 2019年第4期14卷 570-573页

作者： Kijung Sung Wanlin Yang Chengbiao Wu Department of Neurosciences University of California San Diego

Nerve growth factor(NGF) is a powerful trophic factor that provides essential support for the survival and differentiation of sympathetic and sensory neurons during development. However, NGF also activates nociceptors contributing significantly to inflammatory pain and neuropathic pain after tissue injury. As such anti-NGF based therapies represent a promising strategy for pain management. Because of dose-dependent serious side effects such as back pain, injection site hyperalgesia, clinical trials of using NGF to treat various disorders such as diabetic neuropathies, chemotherapy-induced and human immunodeficiency virus-associated peripheral neuropathies were all discontinued. Thus far, worldwide clinical applications of NGF in treating patients are very limited except in China. hereditary sensory autonomic neuropathy type V(HSAN V) is an extremely rare disease. Genetic analyses have revealed that HSAN V is associated with autosomal recessive mutations in NGF. One of the mutations occurred at the 100^(th) position of mature NGF resulting in a change of residue from arginine to tryptophan(R100W). Although those HSAN V patients associated with the NGF^(R100W) mutation suffer from severe loss of deep pain, bone fractures and joint destruction, interestingly patients with the NGF^(R100W) mutation do not show apparent cognitive deficits, suggesting important trophic support function is preserved. We believe that NGF^(R100W) provides an ideal tool to uncouple the two important functions of NGF: trophic versus nociceptive. Studies from investigators including ourselves have indeed confirmed in animal testing that the NGF^(R100W) no longer induced pain. More importantly, the trophic function seemed to be largely preserved in NGF harboring the R100W mutation. On the mechanistic level, we found that the NGF^(R100W) mutation was capable of binding to and signaling through the tyrosine receptor kinase A receptor. But its ability to bind to and activate the 75 kDa neurotrophic

关键词： hereditary sensory and autonomic neuropathy V nerve growth factor NGFR100W mutation pain tyrosine receptor kinase A p75 neurotrophic factor receptor

Generic modules for trivial extension algebras

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Science China Mathematics 1995年第11期38卷 1320-1327页

作者：杜先能 Department of Mathematics Anhui University Hefei 230039 China

Let A be a finite-dimensional algebra over an algebraically closed field. An indecomposable (right) ,4-module M is called generic provided M is infinite k-dimensional but finite length as (left) EndA(M)-module. Let R = A DA be the trivial extension algebra of A- Generic R-modules are constructed from generic A-modules using some functors between Mod A and Mod R. it is also proved that if A is a tame hereditary algebra, then R has only two generic modules.

关键词： trivial extension algebras generic modules tame hereditary algebras.

GENERATORS OF VECTOR FIELDS AND TIME DEPENDENT SYMMETRIES OF EVOLUTION EQUATIONS

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Science China Mathematics 1991年第7期34卷 769-782页

作者：马文秀 Institute of Mathematics Fudan University Shanghai 200433 PRC

In this paper, the conception of generators of vector fields with the general characteris-tic is introduced and the correspondence with time dependent symmetries of evolution equa-tions is provided along with applications to special evolution equations. Furthermore, atheoretical approach for generating time polynomial dependent symmetries of hierarchies ofevolution equations is proposed through hereditary symmetries.

关键词： Lie derivative hereditary symmetry generator time dependent symmetry

Young-onset colorectal cancer:A review

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World Journal of Gastrointestinal Oncology 2021年第8期13卷 856-866页

作者： Joy Zhou Done Sandy H Fang Department of Surgery Johns Hopkins HospitalBaltimoreMD 21287United States Department of Surgery Johns Hopkins University School of MedicineJohns Hopkins HospitalBaltimoreMD 21287United States

Despite the general decrease in overall incidence of colorectal cancer since the early 1990s,the incidence of colorectal cancer in patients less than 50 years old has nearly doubled.A systematic review was performed using the PubMed database(2011-2020)and Cochrane Database of Systematic Reviews(2011-2021)to identify studies(published in English)evaluating epidemiologic,clinical,hereditary,and molecular features;as well as evaluation,management,and prognosis of youngonset colorectal cancer *** search yielded a total of 3401 articles,after applying our inclusion *** fully reviewed 94 full-length *** systematic review demonstrates the increasing incidence of young-onset colorectal cancer and highlights the importance of being hypervigilant for the differential diagnosis colorectal cancer when evaluating a young adult who presents with gastrointestinal symptoms.

关键词： Young-onset colorectal cancer Early-onset colorectal cancer Colorectal cancer Genetic Young adult hereditary

HUNGARIAN SEMIGROUPS, THE ARITHMETIC OF GENERALIZED RENEWAL SEQUENCES AND SEMI-P-FUNCTIONS

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Chinese Annals of Mathematics,Series B 1990年第2期11卷 127-137页

作者：梁之舜黄之瑞 Department of Mathematics Zhongshan UniversityGuangzhou Department of Mathematics Zhongshan University Guangzhou

In this paper the authors discuss the additional conditions under which a Hungarian semigroup is possessed of the fundamental Delphic properties. It is proved that both the positive generalized renewal sequence semigroup and the tame semi-p-function semigroup are Hungarian semigroups and possessed of the fundamental Delphic properties. Then the arithmetic properties of these two classes of the special semigroups are studied respectively.

关键词： semigroup renewal arithmetic erior possessed hereditary algebra Kendall 落兀 uniformly