Wednesday, November 27, 2019
Hellen Keller Essays - Helen Keller, Keller, Anne Sullivan
Hellen Keller Helen Keller was an American author who lived to educate and inspire others to become the most unique author of her time. She was a gifted woman who had exceptional writing abilities. She utilized simplistic style to correspond with all varieties of people. She wrote to inspire people and to help disabled people achieve their goals. Her writing style was full of many types of diction, syntactic devices, and patterns of imagery to exemplify her life chronicle. Keller used an unadorned tone with superb expressions and descriptions. Helen Adams Keller was born in the small town of Tuscumbia, Alabama in 1880. When she was nineteen months old she was diagnosed with scarlet fever, which left her blind and deaf for the rest of her life. When she was a child she was put under the care of Anne Sullivan, and she would become her life long friend and companion. Sullivan began to teach her by writing with her finger, the name of objects into her hand. Keller began to learn very rapidly. She started to write very quickly using a ruler to guide her sentences. She learned how to read Braille and then to speak. In 1900, Keller went to Radcliffe College and graduated with honors. She lectured around the world about her life experiences and met many famous people such as Mark Twain. She was an extraordinary woman and one of the most recognized people in history. Helen Keller shows herself as a well educated, persevering, and eager woman. She brought her success through her education, which she was taught at a young age. Keller learned her thirty new words the same day she learned her first. Next, she presented a very strong personality. In her early years Keller states, although I find it difficult, I still persevere. (Keller, pg. 62) Her dialog shows that even though she has trouble sometimes, she will still overcome her disabilities. Her main advantage in becoming successful was her eagerness to learn. When she first started to learn she says, I began my studies with eagerness. Before me I saw a new world opening in beauty and light, and I felt within me the capacity to know all things. (Keller, pg. 72) She had a positive persona that enabled her to learn. She wrote simple but effectively in order to appeal to ordinary people, like she saw herself. Keller used simple sentences to convey her thoughts. I felt approaching footsteps (Keller, pg. 15) she writes simple to easily explain her situations. Kellers main message in her autobiography is that you can persevere through anything in life, Helen Keller has shown the world that one can achieve anything in their lifetime. ( , Pg. 210) She tells the story of her life to present the examples in her life and to show her own uniqueness. Keller proved that her deafness and blindness would not stop her from being an extraordinary person. She also wrote to express her survival of her disabilities and how she overcame them. Kellers purpose was to inspire people to endure. She communicated to disabled people especially to help them realize what they are capable of. Helen Keller uses specific diction techniques in her writing to address her ideas. She uses vivid sensory language when describing events and objects. When she went to visit the ocean she says, I felt the pebbles rattling as the waves threw their ponderous weight against the shore. (Keller, pg. 35) her descriptions envelop the experiences, almost bringing it to life. Another diction technique she uses is concrete specific detail. In her dream she finds, I could see the dagger and lady Mac Beths little white glove- the dreadful stain. (Keller, pg. 86) her acute descriptions illustrate how she portrays her fantasies. Connotative language is used throughout her autobiography. She uses connotative language to express her feelings when she says, except possibly the absence of pavements, between walking in city streets and in country roads. (Keller, pg. 93) Her connotations give a symbolic meaning to her thoughts. By using different diction techniques, Helen Keller creatively reveals her t houghts. By using particular syntax such as simple sentences, one level sentences, and short sentences, Keller appeals to a broad audience. She tells events using
Saturday, November 23, 2019
Double Genitive Definition and Examples in English grammar
Double Genitive Definition and Examples in English grammar In English grammar, the double genitive is a phrase in which possession is indicated by the preposition of followed by the possessive form of a noun or pronoun, as in a friend of Erics. Also called aà double possessive, an oblique genitive, and a postgenitive.à Some linguists argue that the double genitive is not a true genitive but rather a type of partitive construction. In The Careful Writer (1965), Theodore Bernstein noted that Grammarians have argued over the origin and nature, but not the validity, of the double genitive with the fervor of hot-stove league fans rehashing a Word Series play. Examples and Observations The Dude: Who are you, man?Knox Harrington: Oh, just a friend of Maudies.(The Big Lebowski, 1998)We heard the news from a neighbor of Alices.My bedroom, like that of my potential roommates, is cell-like in both its size and simplicity, furnished with only a bed and a small chest of drawers that easily accommodates the little I brought with me.(David Sedaris, Naked, 1997) Bernsteins Defense of the Double Genitive Not infrequently someone questions a construction that reads like this: He is a political associate of the Presidents. Since the of indicates the possessive (genitive), the someone argues, why tack on another possessive in the form of s? Grammarians differ as to the origin and explanation of the construction, but they do not question its well-established legitimacy. . .à [T]he double genitive is of long standing, idiomatic, useful and here to stay.(Theodore Bernstein, Miss Thistlebottoms Hobgoblins. Farrar, 1971) An Idiomatic Construction Despite their apparent redundancy, double genitive constructions such as a friend of ours or no fault of Jos are established English idiom. Grammarians since C18 have puzzled over the way the construction iterates the of genitive with a genitive inflection on the following pronoun or personal noun.(Pam Peters, The Cambridge Guide to English Usage. Cambridge University Press, 2004) A Subtle Difference To say youre a friend of Gregs means that Greg looks upon you as a friend. To say youre a friend of Greg means that you look upon Greg as a friend. A subtle difference. It seems that the addition of -s to . . . Greg is a way of focusing attention on [this person] as having a more active role in the relationship being expressed. Double possession has given us a way to express quite fine distinctions that we couldnt convey before. The extra marking is not overkill in this case.ââ¬â¹(Kate Burridge, Weeds in the Garden of Words: Further Observations on the Tangled History of the English Language. Cambridge University Press, 2005) Purists and Language Liberals A good many of us do use some double genitives and do not notice that they are double. Some language liberals argue that in informal and casual contexts the double genitive is idiomatic and not overkill, but few editors of Standard English will be likely to let it stand in formal writing. Its either friends of my sister or my sisters friends; even in conversation, friends of my sisters may grate harshly on some purists ears.(Kenneth Wilson, The Columbia Guide to Standard American English, 1993)The double possessive is a matter of some controversy. Some insist that constructions like a friend of Bills are redundant and therefore should be avoided. Others see an old pal of mine and extrapolate that, because youd never say an old pal of me, you also must reject a friend of Bill.I say trust your ear over either dogma. A friend of Bills probably is better . . ..(Bill Walsh, Yes, I Could Care Less: How to Be a Language Snob Without Being a Jerk. St. Martins Press, 2013)
Thursday, November 21, 2019
CORPORATE FINANCE Essay Example | Topics and Well Written Essays - 500 words - 2
CORPORATE FINANCE - Essay Example ssaro has also provided clear reasoning to the businesses as to why they should not be unsure or fear reinventing the business to cope with the market changes and the complete global financial crisis. Based on the responses that the author has provided, I completely agree with the author. The recommendations like understanding that review means a lot for companies especially in times of recession. As the author has discussed, the decision involves a number of people, and also involves quick and accurate decision been taken by the management of the firms. I completely agree with the recommendations that have been provided by the writer. Massaro has provided clear cut out issues, solutions and recommendations for companies. The recommendations that have been provided show a very positive possibility for the firms to be able to overcome the recession and continue to make profits. It is also seen that the author has taken care in ensuring that the steps are expressed in simple terms and is not too technical hence can be used by any industry and any business size. A stockholder dropped by my office the other day and brought up a very interesting and important question. She said that as a company grows, agency problems develop within the company. Of course I nodded knowingly. She asked how we were going to help reduce the agency issues at the top executive level. She left and I started to look up definitions. Do you have any way of helping me get her an answer? What do we do to reduce this agency problem thing? How do we measure the top executives, what other safeguards do we establish to make sure no one is harming the company or its stockholders? Agency problems are a common issue that is found in companies. This normally occurs when there is a conflict of interest between the creditors, management and also the shareholders. This is majorly due to differences in the goals. Having agency problems in a company can lead to increased costs that the company requires to
Wednesday, November 20, 2019
Shay's Rebellion Essay Example | Topics and Well Written Essays - 750 words
Shay's Rebellion - Essay Example (151). Washington indicates that the then Americans did not enjoy liberty and security in their livelihood (151). Drafting of a constitution that will champion for the needs of all citizens in the country, and one that will closely be adhered to, by all in the administration posts (151). This Washington quotes, to prevent incroachments and promote respect in the country. In the letter it is evident that the then president has numerous fears that what the American was wary of at that particular time has numerous elements of truth and verity. In the chapter, Washington is indicated to verify that what he had dreamt of what had come to pass (David &Mayer, 152). From his letter, it is evident that; In the letter, Washington laments to Knox on the behavior of rebels of Massachusetts (152). Though he advises Knox to respect the insurgents and keep advising them, Washington hopes for a better day in America. Besides the allegations of corruption, which Washington claims, to have taken the headlines in the Newspapers, Washington is wary that Americans may not be bright enough to notice other ills that may be inflicted on them. David & Mayer indicate that Washington is more than convinced that the ignorance in the Americans has augmented to an extent of them forgetting the virtues of the one prestigious and mighty country (152). The need to amend the Federal constitution has become an obvious case. To prove this, Washington is seen to have a lot of confidence in the position and the ability of Knox to minimize the chances of the occurrence of bitter confrontations in the state. Need for change in the public administration .Though Washington indicates that Knox is not exact in the type of change needed for this society; Knoxââ¬â¢s letter indicates chances of his contribution in effecting change. Washington advocates for complete vigilance and vigor in pushing for reforms in the country. This he confirms in the
Sunday, November 17, 2019
Rhetorical Analysis on Lux Toilet Soap Ad Essay Example for Free
Rhetorical Analysis on Lux Toilet Soap Ad Essay Lux Toilet Soap Susan Sanders Devry University Lux Toilet Soap A 1954 ad for Lux Toilet Soap states, ââ¬Å"Luscious is the word for Greer Garsonââ¬â¢s complexion and she keeps it that way with Lux Toilet Soap. â⬠This statement is an example of how emotional appeal is used in the ad to grab the readerââ¬â¢s attention. The advertiser uses character appeal by including information about Garsonââ¬â¢s success in the ad to make the reader want to use the product. Logical appeal is used when a refund is offered to leave the reader with no objections to trying the product. The Greer Garson Lux Toilet Soap ad was effective in raising product awareness and profits due to its usage of these appeals. Garson is pictured against a white background with a vine of grapes in hand in the ad. Purple is the color theme here, as Garsonââ¬â¢s eye makeup, necklace and grapes are of this color. This gives the ad a sense of sophistication, warmth, luxury and even a little mystery. This grabs the readerââ¬â¢s attention and makes her want to read the ad. The readerââ¬â¢s attention is then drawn to a sentence below Garson in which the first word, ââ¬Å"Luscious,â⬠is of a larger font size than the rest of the text. The color pink draws the reader to look in the bottom right corner of the ad, where a Lux Toilet Soap wrapper reveals the bar of soap. This completes the attraction, femininity, and smooth texture of the ad. The image and larger-sized text are present in the advertisement to appeal to the readerââ¬â¢s emotion of craving for Garsonââ¬â¢s flawless skin. Women of this time were open to ideas on how to look as beautiful as possible. This could have been to succeed in their careers or simply to please a man. Looks play a large role in any aspiring actresses success because she is trying to talk people into casting her for roles. In addition, having and taking care of a family was a very important part of womenââ¬â¢s lives. They had to look their best in the hopes of getting a husband. This advertisement had their solution and informed the readers to use Lux Toilet Soap to get that desired look. If the picture of Garson wasnââ¬â¢t enough to get the reader to find character appeal in the advertisement, there is also smaller blue text at the bottom of the ad informing them of her credentials. The ad states, ââ¬Å"Besides being beautiful, Greer Garson is intelligent (sheââ¬â¢s lectured Shakespeare), talented (probably won more awards than any other film actress) â⬠There is also a statement at the top of the ad promoting a movie Garson most recently starred in, ââ¬Å"Her Twelve Men. â⬠The ad then goes on to state her insistence on the use of Lux Toilet Soap in her home and dressing room, as well as the statistic ââ¬Å"Greerââ¬â¢s used Lux for years now-she believes in it, like 9 out of 10 Hollywood stars do. This information about Garsonââ¬â¢s career leads readers to trust in her belief of the soapââ¬â¢s effectiveness. It suggests that the reader should want to use the Lux soap because successful and beautiful people like Garson do. If it plays some part in Garsonââ¬â¢s success, then the reader might have that same luck with life as well, after using Lux soap. As the reader continues through the text, the final appeal is utilized, logic. The a d states that ââ¬Å"Miss Garsonââ¬â¢s luscious complexion is as good a recommendation as we know of for using Lux Toilet Soap. If you find Lux isnââ¬â¢t everything a good soap can be, weââ¬â¢ll return what you paid for it. Fair enough? â⬠After being presented this offer, the reader runs out of objections to trying the product. Reasoning tells them to buy it, try it, if it isnââ¬â¢t satisfactory, get a refund, and no loss would be incurred. The offer leaves the reader with a feeling of obligation to buying the product. It is important that the ad achieves this because it ultimately leads to higher sales profit. Lux Toilet Soap was not the only solution to uneven or imperfect complexion.
Friday, November 15, 2019
MAMLD1 Mutation and Phenotypes of Hypospadias
MAMLD1 Mutation and Phenotypes of Hypospadias The relationship between clinical phenotypes and mutations of MAMLD1 in children with hypospadias Yong-fen Lv, Lu-lu Cui, Pin Li* Department of Endocrinology, Shanghais Children Hospital, Shanghai Jiaotong University Acknowledgements: The work was financially supported by the key project of Shanghai municipal health bureau (2011111), youth project of Shanghai municipal health bureauà ¯Ã ¼Ã
âmajor issue subprojects of Shanghai science and technology commission (12411952408), Yangtze river delta research project of Shanghai science and technology commission (13495810300). Abstract Purpose: To verify the relationship between clinical phenotypes of hypospadias and mutations of MAMLD1. Methods: Seventy-two patients were diagnosed to be hypospadias in department of endocrinology and department of urinary surgery in our hospital. Among all the patients, 69 were with normal karyotype and enrolled as the studied group. Fifty healthy boys were employed as the controls. Peripheral Blood were collected for DNA extraction. For the studied group, PCR primer was designed and direct sequencing was performed for screening for MAMLD1 mutations in six coding exons and the flanking region. Those mutated exons were examined for the control group. Results: Thirty-five of all the 72 patients (48.6 %) were isolated hypospadias. The other 37 cases (51.4%) were complicated by other genitourinary system malformations, including 12 cases with micropenis and/or underdeveloped testicles. Abnormal karyotype was identified in 3 patients, and all were karyotype as 46, XX (SRY+ in 1 case and SRY- in 2 cases). Six types of MAMLD1 mutations were detected in exon 2, 3, 5, 7 in studied group, including c.5A>G (p.D2G), IVS4-364C/A, c.1910A>Gà ¯Ã ¼Ãâ p.N637S), c.2208T>C, c.2227 G>A (p.E742K) and IVS8-144C/T. All were single nucleotide polymorphism except c.5A>G (p.D2G), a newly discovered point mutation. The frequency of IVS4-364C/A was significantly different between patients and controls, and it was also significantly different between patients with and without micropenis and/or underdeveloped testicles. Conclusion: Chromosome abnormality is not the leading cause of other genitourinary system malformations complicated with hypospadias. Mutations of MAMLD1 maybe closely related to hypospadias in Chinese. c.5Aà ¯Ã ¼Ã
¾Gà ¯Ã ¼Ãâ p.D2Gà ¯Ã ¼Ã¢â¬ °is the newly discovered point mutation in this work. IVS4-364C/A is associated with underdeveloped testicles and/or micropenis in hypospadias patients. Introduction Hypospadias is one of the most common congenital genitourinary system malformations in males, with incidence 1â⬠°Ã ¯Ã ½Ã
¾1%. As one of the Juvenile-types of testicular dysgenesis syndrome,(1-3) the prevalence of hypospadias is obviously increasing in these years. From 1987 to 2001, the prevalence rate was doubly increased in China.(4) Hypospadias will lead to different degrees of genital malformation, and the clinical phenotypes vary when with other complications. For instance, besides the general signs of hypospadias, e.g., ectopic ureteral orifice, phallocampsis, redundant dorsal prepuce, etc, the patient may be also suffered from other malformations including penoscrotal transposition, cryptorchidism, hydrocele, oblique inguinal hernia, micropenis and underdeveloped testicles. Hypospadias is a complicated disease due to various causes. The causes of most cases are not able to be verified, especially for those mild cases. For these cases, environmental factors, endocrine fa ctors and abnormal gene expression may be the leading causes.(5) The sex differentiation of males is a continuous series of processes related on the balancing and interaction of various genes like SRY, WTl, ATF3, SF-1, etc. MAMLD1, which is previously called chromosome X open reading frame6 (Cxorf6), is the important candidate gene widely studied recently. This gene is located in Xq28,(6,7) with molecular length of 157898 bp and containing 8 exons, among which exon 2, 3, 4, 5, 6, 7 are coding exons. MAMLD1 is initially detected in patients with X-linked myotubular myopathy. The reproductive systems of patients are normally developed with mutations in Myotubularin MTM-1, while different degrees of malformations occur in cases with deletion of MTM1 gene.(8-11) The subsequent experiments indicated that, for patients with 46, XY disorder of sex development (DSD), except MAMLD1, no other candidate genes were found in the deletion region. These results indicate that MAMLD1 is the perfect candidate gene for the study of 46, XY DSD, especially for hypospa dias. This work aimed to evaluate the mutations of MAMLD1 and clinical phenotypes in children with hypospadias in China, and thus to illustrate the role of MAMLD1 mutation in hypospadias. Methods Patients Seventy-two children with hypospadias admitted to Shanghai Childrens Hospital Affiliated to Jiaotong University from March 2011 to December 2012 were enrolled in this study. Definite diagnosis was based on the clinical signs, and patients with adrenogenital syndrome were excluded through clinical examination. Clinical examination Clinical survey was performed including patientââ¬â¢s complain, present medical history, past medical history, personal history, family history, birth history, motherââ¬â¢s medical history in pregnancy, previous exposure to environmental pollution, etc. Physical examination was performed to measure the hight, weight, heart rate, blood pressure and the status of gonad development, etc. For adolescent, the development of secondary sexual characteristics was also assessed. Regular auxiliary examinations were performed including blood and urine routine test, biochemistry test, gonadal hormone level, adrenal cortex function and abdominal ultrasound exam, etc. Karyotype analysis and detection of SRY gene Lymphocytes were isolated from peripheral blood of patients, cultured and smeared on slides, and G-bands were produced by treatment with trypsin. Thirty split-phases were selected for each case, and karyotype analysis was performed according to ISCN-1995. SRY gene detection was performed for all the patients. Screening for MAMLD1 mutations The gene sequence of MAMLDI was obtained from National Center for Biotechnology Information (NCBI), which was the same as obtained from Ensembl Genome Browser: NC_000023.10 (NCBI) versus ENSG00000013619 (Ensembl release 70-January 2013). Primers were designed for the coding exon 2, 3, 4, 5, 6, 7 of MAMLD1. DNA extraction was performed using TIANamp Blood DNA Kit (TIANGEN Biotech (Beijing) Co., Ltd, China) and purity test was done. Ploymerase chain reaction (PCR) was performed with use of LONGgene A300 PCR and Premix Ex Taq Version2.0 (TaKaRa D332A), GC buffer (TaKaRa DRR20GC1) and rTag (TaKaRa DR001BM), 35 cycles of denaturation at 94à ¢Ã¢â¬Å¾Ãâ for 30 seconds,extension at 72à ¢Ã¢â¬Å¾Ãâ for 60 seconds. Mutations were identified in the six coding exons and flanking regions of MAMLD1, and those mutated exons were examined for the control group. Statistical analysis The SPSS 18 software was used for statistical evaluation. Chi-square test was used to compare the two groups, frequency of single nucleotide polymorphism between the two groups was analyzed using Fisher Exact test, and differences were considered statistically significant when the p-value was G (p.D2G), IVS4-364C/A (rs1209024), c.1910A>G (p.N637S), c.2208T>C, c.2227 G>A (p.E742K, rs5925166) and IVS8-144C/T (rs658748). Two types of mutations were detected in exon 5 and 7 in all healthy controls, including c.1910 A>G (p.N637S, rs2073043) and c.2208T>C. Among all the mutations, c.5A>G (p.D2G) was a newly discovered point mutation, others were all single nucleotide polymorphism. The studied group compared to the control group, the frequency analyzed by Fisher Exact test, the P value for IVS4-364C/A, c.1910A>G (p.N637S), c.2208T>C, c.2227 G>A (p.E742K) and IVS8-144C/T were 0.002, 0.638, 0.362, 1 and 0.509 respectively. Therefore, the frequency of IVS8-144C/T was significantly different be tween the two groups, and the frequency of the other 4 SNPs were not significantly different between the two groups. Relationship between mutations of MAMLD1 and clinical phenotypes of hypospadias One case with c.5A>G (p.D2G) was isolated hypospadias, the urethral opening position was located at the middle segment of penis. Due to the limited number of mutation cases, the sample size should be increased to study the relationship between c.5A>G (p.D2G) and phenotypes of hypospadias. Analyzed by Chi-squared test with Yates continuity correction, the frequency of IVS4-364C/A was significantly different between patients with and without micropenis and/or underdeveloped testicles (p=0.001). Discussion Chromosome abnormality and karyotype change is one of the causes of hypospadias. Till now, ten types of chromosome abnormalities were confirmed involving chromosome 1, 4, 6, 8, 11, 13 19, 20, 21, X, Y, etc. In the studied 72 patients, abnormal karyotype was identified in 3 patients, and all were karyotype as 46, XX (SRY+ in 1 case and SRY- in 2 cases). For these three patients, uterus and ovary were not found through the laparoscopic exploration. Therefore, they were diagnosed to be 46, XX male sex reversal syndrome. Karyotype analysis is important for hypospadias patients with sex reversal syndrome in exploring candidate gene and pathogenesis, in clinical diagnosis as well as in making therapeutic plan. However, there are only 3 cases with karyotype abnormality in the 72 patients studied, which means chromosome abnormality is not the leading cause of hypospadias. MAMLD1 is initially detected in patients with X-linked myotubular myopathy. The reproductive systems of patients are normally developed with mutations in Myotubularin MTM-1, while different degrees of malformations occur in cases with deletion of MTM1 gene.(8-11) Except MAMLD1, no other candidate genes were found in the deletion region. These results indicate that MAMLD1 is the perfect candidate gene for the study of 46, XY DSD, especially for hypospadias. In the works of Fukami et al., three nonsense mutations were detected, i.e., p.E124X, p.Q197X and p.R653X, in 4 XY DSD cases, involving micropenis and hypospadias with urethral opening position located on scrotum and the joint at penis and scrotum.(12) Kalfa et al. have studied the mutations of MAMLD1 in hypospadias patients and discovered 3 mutations, including p.V432A, p.E109fsX121 and P.531ins3Q, and they proposed that 10 percent of all the severe hypospadias cases was caused by mutations of MAMLD1.(13) In the study of Chen et al., three mutations of MAMLD1 were discovered, i.e., p.Q529K, p.D686D and noncoding region c.2065+8a>t, in 99 Swedish with hypospadias.(14) However, this is not the case in China. Qian et al. have studied the mutations of MAMLD1 in 100 cases of isolated hypospadias,(15) where 200 healthy participants were randomly selected as control. In their work, two point mutations, c.1699C>T and c.1985A>G, were detected and all were SNPs, and statistical analysis revea led that MAMLD1 is not the candidate gene for isolated hypospadias in China. The different results may be due to the different inclusion criteria of studied population between China and abroad, i.e., the studied populations of foreign works were mostly composed by hypospadias cases complicated by other genitourinary system malformations, including gonadal dysgenesis, while mostly isolated hypospadias cases were selected in the works of Chinese. In this study, a new point mutation c.5A>G was detected in exon 2 of one patient, and this mutation was not found in controls. The mutation makes the second amino acid position, originally the hydrophilic negatively charged aspartic acid, substituted by a neutrally charged glycine. For various species, the second amino acid position in exon 2 of MAMLD1 is highly conserved, and analyzed via polyphen, the mutation c.5A>G (p.D2G) of MAMLD1 is predicted to be probably damaging with a score of 0.996 from HumDiv and 0.993 from HunVar, which indicates that c.5A>G (p.D2G) is highly related to hypospadias. SIFT predicts that the mutation can affect protein function, since there is no protein diversity on the site (supplementary figure 20). The case with c.5Aà ¯Ã ¼Ã
¾G was isolated hypospadias, and the urethral opening was located in the middle segment of penis. A big sample size and the information of the exact protein function are required to elucidate whether c.5A>G (p.D2G) of MAMLD1 is the cause of isolated hypospadias and its role in human sexual differentiation. The meaningful SNP detected in this work is the full mutation in introns close to exon 3, i.e., IVS4-364C/A (rs1209024), in 12 patients, which is not found in controls. The 12 cases including 2 cases with anterior hypospadias, 9 cases middle urethral openings and 1 case posterior urethral opening. Among all the 12 patients, 6 were complicated by 2 other malformations, 8 cases were complicated by micropenis and/or underdeveloped testicles. Generally, introns are non-coding sections of a gene, which are removed before the mature mRNA can be transported, thus do not exist in the mRNA sequence. However, there may be several mini genes in some introns, the so called genes-within-genes. The frequency of IVS4-364C/A was significantly different between patients and controls, and it was also significantly different between patients with and without micropenis and/or underdeveloped testicles. Therefore, two possibilities could be speculated, the first is that there may be coding sequence relat ed to micropenis and/or underdeveloped testicles in the introns close to exon 3 of MAMLD1, the second is that the mutation could affect mRNA shear mode, thus lead to the change of protein function. Next step of our study plan is to verify whether the mutation could affect mRNA shear mode through reverse transcription, amplification and sequencing of extracted mRNA. References 1. Skakkebaek NE, Rajpert-De ME, Main KM. Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Hum Reprod 2001;16:972-8. 2. Sharpe RM. Pathways of endocrine disruption during male sexual differentiation and masculinization. Best Pract Res Clin Endocrinol Metab 2006;20:91-110. 3. Sharpe RM, Skakkebaek NE. Testicular dysgenesis syndrome: mechanistic insights and potential new downstream effects. Fertil Steril 2008;89(2 Suppl):e33-8. 4. Wu YQ, Dai L, Wang YP, Liang J, Zhu J, Wu DS. Secular Trends of Hypospadias in Chinese Perinatals. J Sichuan Univ (Med Sci Edi) 2005;36:274-6. 5. Liang WQ, Ji CY, Zhang JM, et al. The correlation between the type of hypospadias and external genital system malformations. Chin J Urol 2011;32:126-9. 6. Laporte J, Kioschis P, Hu LJ, et al. Cloning and char acterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. Genomics 1997;41:458ââ¬â62. 7. Laporte J, Guiraud-Chaumeil C, Vincent MC, et al. Mutations in the MTM1 gene implicated in X-linkedmyotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European NeuroMuscular Center. Hum Mol Genet 1997;6:1505-11. 8. Bartsch O, Kress W, Wagner A, et al. The novelcontiguous gene syndrome of myotubular myopathy(MTM1), male hypogenitalism and deletion in Xq28: report of the first familial case. Cytogenet Cell Genet 1999;85:310-4. 9. Bates PA, Kelley LA, MacCallum RM, et al. Enhancement of protein modeling by human intervention inapplying the automatic programs 3D-JIGSAW and3D-PSSM. Proteins 2001;S5(Suppl 5):39-46. 10. Biancalana V, Caron O, Gallati S, et al. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet 2003;112:135-42. 11. Hu LJ, Laporte J, Kress W, et al. Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. Hum Mol Genet 1996;5:139-43. 12. Fukami M, Wada Y, Miyabayashi K, et al. CXorf6 is a causative gene for hypospadias. Nat Genet 2006;38:1369-71. 13. Kalfa N, Liu B, Klein O, et al. Mutations of CXorf6 are associated with arrange of severities of hypospadias. Eur J Endocrinol 2008;159:453-8. 14. Chen Y, Thai HT, Lundin J, et al. Mutational study of the MAMLD1-gene in hypospadias. Eur J Med Genet 2010;53:122-6. 15. Qian C, Lin HW, Sun P, et al. Research of MAMLD1 gene in Hypospadias. J Clin Pediatr Surg 2012;11:106-11. Figure Legends Figure 1. Mutations of MAMLD1, the number represents the exon serial number, the black area represents the coding region. Table 1à ¯Ã ¼Ã
½Clinic phenotypes of 72 patients with hypospadias Table 2. Patients complicated by other genitourinary system malformations Table 3. Mutations of MAMLD1 gene screened in patients and controls
Tuesday, November 12, 2019
Challenges of Ecotourism in Antarctica Essay
Antarctica is one of the largest and most fragile environments on earth. It is rare and unique, and few people get the opportunity to visit such an extraordinary place. Antarcticaââ¬â¢s unique environment and climate sets it apart from other tourist destinations. However, the hostile wilderness creates many challenges for ecotourism. There is a concern regarding the high concentration of tourists and their environmental impact at the few landing sites available. The real debate is whether tourism can benefit, or threaten the conservation of Antarctica. Ecotourism, in its early historical origins has been closely linked to nature ââ¬â oriented tourism. For example, Laarman and Durst, in reference to ecotourism, defined it as a nature tourism where a traveler is interested and drawn to a destination because of its features and natural history. The visit combines education, recreation, and often adventureââ¬â¢ (Laarman and Durst 1987:5). Defining ecotourism is not easily done, difficulties defining it are mainly due to the multidimensional nature of the definitions, and the fact that each dimension involved represents a continuum of possibilities (Blamey 1997). The Ecotourism Society defines ecotourism as ââ¬Ëresponsible travel to natural areas, which conserves the environment and improves the welfare of local peopleââ¬â¢ (Western 1993:8). Ceballos-Lascurain (1987: 14) defines ecotourism as ââ¬Ëtraveling to relatively undisturbed or uncontaminated natural areas with the specific objective of studying, admiring, and enjoying the scenery and its wild plants and animals, as well as any existing cultural manifestations (both past and present) found in these areasââ¬â¢. The tourism industry of Antarctica is often overlooked as a factor of environmental degradation. It is important that more attention is drawn to assessing the current state of this large continent. Beck (1994) states that, tourists, scientists, and other visitors to Antarctica have tremendous environmental impacts. Tourist shipping can pose an environmental risk, and there is good reason for concern. There have been several marine accidents in recent years. There was the case of an Argentinean supply vessel Bahia Paraiso, which ran a ground on January 28, 1989, spilling 600 metric tones of fuel into Antarcticaââ¬â¢s pristine waters (Culver 1991). Other environmental impacts include engine emissions that contribute to air pollution. The noise generated from outboard motors on inflatable zodiacs, turbulence created from tourist ships and the ââ¬Å"grey waterâ⬠sewage they emit also creates harmful effects. More responsibility is being demanded out of eco tourists visiting Antarctica. For example Salen Lindbladââ¬â¢s 164-passenger ship the Frontier Spirit has been reinforced, and also contains a sewage treatment plant, refrigerated waste storage area, and a special storage area for non-biodegradable waste (Cebellos-Lascurain 1996). Another main concern is in the peninsula region of Antarctica where there are several highly concentrated, high profile sites. The concentration of tourism activities leads to the potential for over visitation in these areas. A present study of Magellanic penguins demonstrates that human impact puts a great amount of stress on the species. Simple human presence can be physiologically stressful for breeding at nest sites (Fowler 1999). The Antarctic environment is very fragile and not used to human activities. However the study also found that birds exposed to high levels of tourists are not effected over time and concludes that as a result tourism should be concentrated to certain areas while others are kept off limits to human presence. People have been going to Antarctica for over 100 years. Prior to 1950, nearly all trips to Antarctica were either exploratory or scientific expeditions (Cessford 1997). As a result of human activity in the area there has been a connection with industrial, national and scientific programs. Human activity has also caused the development of alien microbes, fungi, plants, and animals. These ââ¬Å"alienâ⬠species that are mostly European in origin exist on most of the sub ââ¬â Antarctic islands and some even occur on the continent itself. These species in turn can have both a direct and indirect impact on the Antarctic ecosystem (Fenot 2004). It has only been recently that biologists have conducted any research into diseases of Antarctic wildlife to note the effects of human activity. These studies look at marine mammals and penguins for bacteria flora and pathogens (disease causing organisms). Blood tests for antibodies of a variety of species have also been taken to check for viral, bacterial, fungal and parasitic disease. A study conducted in the summer season of 2000/2001, Dr. Todhunter and Dr. Terris took swab collections of specimens from passengersââ¬â¢ boots aboard the Kapitan Khlebnikov, which led to tentative findings of a wide range of potential pathogens. In another study 233 fecal samples from 8 bird species were taken from 6 different penguin colonies, which are regularly visited by tourists. The samples were investigated for pathogens of potential human origin. No human related bacteria were found, which suggests that the tourism industry in the Antarctic region has achieved its goal of not introducing any pathogens so far. While the tourist season only ranges from October to April, currently tourism in Antarctica involves over 30 agencies, and 40,000 tourists per annum (Lambert 2005). Antarctica is the ultimate destination for anyone interested in natural history, but it also challenges the same people that visit to think about our responsibilities to all life on earthâ⬠(Lambert 2005). Tourists to Antarctica are most likely to fall in to the category of eco tourist, as there are no restaurants, theaters or art galleries, and the experience is about learning about and viewing one of the earthââ¬â¢s last untouched continent s. Boo (1990) states that for conservation management to succeed, tourism must be a tool to educate thus creating real benefits for a geological location. Although tourism and human contact on Antarctica is showing some negative impacts, it has also encouraged conservation efforts in the region. Another step towards the recognition of potential environmental impact is the creation of the IATTO (International Association of Antarctic Tour Operators). In 1991 seven tour operators active in Antarctica formed IATTO. It was created to act as a single organization. The goal of IATTO is to promote and practice safe environmentally responsible private-sector travel to the Antarctic. Currently there are 80 member organizations representing 14 countries. IATTO 2008) This environmental protocol designates Antarctica as a natural reserve devoted to peace and science and seeks to ensure human activities, such as tourism, have no adverse effects on the Antarctic environment, or on its scientific and aesthetic values. With a recent increase in the number of members in the IAATO it shows that companies are becoming more aware of the environmentally se nsitive concerns related to Antarctica and the importance of such an organization. The increase in membership does not necessarily mean that there has been a drastic increase in the number of tourists visiting Antarctica. All current Antarctica tour operators file yearly environmental impact assessments to their national authorities. There are few places on earth that have never been to war, where the environment is fully protected and scientific research has priority over anything else. (IAATO 2008) The Antarctic treaty can be accredited with the successful protection of Antarctica. Formed on June 23, 1961 the treaty covers the area south of 60 degrees latitude and consists of 46 countries. Its objectives are simple and unique, demilitarize Antarctica and make it a zone free of nuclear tests, and disposal of radioactive waste. As well as be used for peaceful purposes only (IAATO 2008). To promote international cooperation in the Antarctic and set aside disputes over territorial sovereignty. The treaty parties meet each year and have adopted over 300 recommendations and negotiated separate international agreements, of which 3 are still in use. These include: 1. The convention for the conservation of Antarctic seals which was established in 1972. 2. The convention for conservation of Antarctica marine living resources established in 1980. 3. The protocol on Environmental protection to the Atlantic Treaty established in 1991. These agreements and the original treaty provide the rules to govern all activities in relation to Antarctica. Collectively known as the Antarctica Treaty System (ATS). In conclusion it is apparent that Antarctica is a very fragile environment, and any kind of human involvement can pose great risks if the correct precautions are not taken. It is clear to me that eco tourism can benefit the great continent of Antarctica, those visiting become ambassadors as they learn about the importance of preservation. Boo (1990) explains that tourists become emotionally attached to an area and will contribute funds to preserve it. It is important for organizations like the IAATO to continue their promotion of safe and environmentally responsible travel to the Antarctic. Continued research is necessary to make sure that tourists as well as scientists leave as little of a human footprint as possible. Antarctica is a beautiful place on earth, and I believe that when people are educated about their impact on such a vulnerable area and regulations are put in place to protect the area that everyone should be able to experience the Antarctic continent in all of its magnificence.
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