Elder Brother Research Articles

Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder

ObjectiveWe present recurrent 2q13 microduplication in a family with autism spectrum disorder (ASD), intellectual disability, and liver disorder. Case ReportA 45-year-old woman and her 52-year-old husband were referred for genetic counseling because of mental and liver disorders in their two sons and their planning for prenatal diagnosis of familial disorders in the future pregnancy. She and her husband were normal and healthy, but their 21-year-old elder son had suffered from ASD, severe intellectual disability, poor motor function, liver cirrhosis, and esophageal varices, and their 19-year-old younger son had suffered from ASD, mild intellectual disability, poor balance and coordination, hepatosplenomegaly, fatty liver, and mild liver cirrhosis. The karyotypes of the parents and sons were normal. Array comparative genomic hybridization of the family revealed a 686.5-kb 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 in the elder brother, a 658.9-kb 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 in the younger brother, and an 83.83-kb 2q13 microduplication encompassing NPHP1 in the asymptomatic father. ConclusionRecurrent phenotypic abnormality in the family with normal karyotype should include a differential diagnosis of pathogenic copy-number variations.

“I’d rather my brother was a bomber than a homo”: British Muslim masculinities and homonationalism in Sally El Hosaini’sMy Brother the Devil

Images of young British Muslim men engaging in terrorist activity or gang warfare proliferate in contemporary media. Such distortions frame Muslim males as a homogeneous and threatening presence within Britain; men who, despite living in the UK, are prone to a pathological form of masculinity supposedly inculcated by their religio-cultural background. In Terrorist Assemblages, Jasbir K. Puar develops the framework of “homonationalism” to examine the relationship between hostilities towards Muslims and growing acceptance of LGBT subjectivities in Euro-America. Puar argues that popular discourses stereotype diverse ethno-cultural groups under a distinct racialized, religiously-defined “Muslim” grouping. These Muslim “others”, recognized through racial and sartorial profiling, are assigned viewpoints that place them in opposition to the purportedly “enlightened” West. Puar shows how this dualism has been continually reproduced in cultural production, propagating the view that to be Muslim is to be axiomatically homophobic. This article assesses the extent to which homonationalism is replicated in the British film My Brother the Devil (dir. Sally El Hosaini, 2012). Set on a housing estate in Hackney, it depicts two London-born brothers of Egyptian heritage, Rash and Mo, as elder brother Rash leaves his “gangster” lifestyle after falling in love with photographer Sayid. My Brother the Devil invokes moral panics about young British Muslim men, as well as the increased visibility of homosexuality in recent UK media and cultural output, to probe connections between masculinity, sexuality, race, and class. However, this article posits that My Brother the Devil inadvertently upholds homonationalist binaries. By analysing the film, this paper contends that what Puar terms a “Muslim or gay binary” should be considered in a British context to address how certain “liberal” Muslim subjectivities are incorporated within imaginings of Britishness, at the exclusion of Muslim subjectivities that do not fit these prescriptions.

Do Natural Disasters Decrease the Gender Gap in Schooling?

Rapidly decreasing gender gaps in schooling in developing countries can be a result of a gendered division of child farm labor as a coping response to increased natural disasters. This paper makes a case for this conjecture by analyzing original household survey data from rural Fiji. Boys, not girls, contribute to farming only among cyclone victims with dwelling damage, independent of housing aid receipt. Boys' school enrollment is significantly lower than girls' only among victims who did not receive aid early enough. Boys with no elder brother and an educated father are particularly vulnerable in their progression to higher-level schools.

Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature

Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is an autosomal recessive disorder characterized by impaired metabolism of ketones and isoleucine. In this study, we report on the first two siblings with T2 deficiency from Libya. Both siblings presented with ketoacidosis, but the severity and outcomes were quite distinctive. T2 deficiency in patient 1, the younger sister, manifested as recurrent severe episodes of ketoacidosis during the first year of life. She unfortunately experienced neurodevelopmental complications, and died at 14months old, after her 5th episode. In contrast, patient 2, the elder brother, experienced only one ketoacidotic episode at the age of 4years. He recovered uneventfully and has continued to achieve age-appropriate development to date. Upon analysis, the siblings’ blood acylcarnitine profiles had shown increased levels of C5:1 and C5-OH carnitine. ACAT1 mutational analysis revealed patient 2 is homozygotic for a novel mutation–c.674C>A (p.Ala225Glu); this mutation was then confirmed by familial analysis. Transient expression analysis of c.674C>A mutant T2 cDNA revealed neither potassium ion-activated acetoacetyl-CoA thiolase activity, which represents T2 activity, nor mutant T2 protein. Therefore, this mutation is truly pathogenic. Interestingly, the incidence of T2 deficiency may be high among the Arab population. This disease should be considered in the differential diagnosis for unexplained ketoacidosis in children. Patients with T2 deficiency could have a favorable outcome if diagnosed and treated early.

Cutaneous Manifestations of Fanconi's Anemia in Two Siblings.

Sir, Fanconi's anaemia is a rare, autosomal recessive disorder characterized by diverse congenital malformations, developmental defects, progressive pancytopenia, predisposition to both hematologic malignancies and solid tumors, and widespread mottled skin pigmentation. Two brothers (aged 7 and 13 years) born of nonconsanguinous marriage and studying in second and sixth standard presently, presented to our pediatrics department 2 years back with the complaints of fever, not gaining weight and height, paleness of body, as well as an additional complaint of incomplete voiding of urine in the younger brother. On anthropometric examination, the weight of both the brothers was less than the 3rd centile. The height of the elder brother was at the 3rd centile and younger brother was less than the 3rd centile. The head, chest, and mid arm circumference was 48 cm, 49 cm, and 14.5 cm, respectively, for the elder brother and 47.5 cm, 46 cm, and 12cm, respectively, for the younger brother. Microcephaly and micrognathia was present in the younger brother. On hematological evaluations, there was progressive pancytopenia. Peripheral blood picture showed moderate anisopoikilocytosis with microcytic hypochromic anemia in both the brothers. Bone marrow aspirate examination revealed hypoplastic anemia. Liver function, renal function tests, and X-rays of the hands were normal. On ultrasonography of the abdomen, there was hepatomegaly, and cystitis with a large echogenic calculus of size 1.2 cm in the dependent part of urinary bladder in the elder and younger brother, respectively. Karyotyping done from a cytogenetics lab, Department of Zoology was normal. The patients were referred to the dermatology outpatient department for the cutaneous manifestations. On general examination, there was pallor, generalized olive brown pigmentation of the whole body, with discrete, asymptomatic, hypopigmented macules distributed over the trunk [Figures 1 and 2], neck, bilateral upper limbs, lower limbs, face, palms [Figure 3], and soles in both the brothers. No cafe-au-lait macules, palmoplantar keratoderma, and mucosal pigmentation was present. Fingers, thumb and nails, and testes were normal. No hearing loss, structural abnormalities of external ears, and squint were found. Fundoscopy, superficial, and deep reflexes were normal. Histopathological examination of the skin revealed sparse superficial perivascular lymphocytic infiltrate with numerous melanophages within papillary dermis. The papillary dermis was slightly thickened and showed delicate fibroplasia and mucin with flattened epidermis at places [Figure 4].Figure 1: Mottled skin pigmentation on the trunkFigure 2: Siblings having “raindrop pigmentation” on the trunkFigure 3: Mottled pigmentation on the palmsFigure 4: Histopathology from the trunk showing flattened epidermis, slightly thickened papillary dermis, with numerous melanophages on hematoxylin and eosin stain (×10)Fanconi anemia is a genetically and phenotypically heterogeneous recessive disorder.[1] There is an intrafamilial phenotypic variation in the specific types of congenital malformations among affected siblings.[2] Other findings include skin pigmentation abnormalities, hypoplastic thenar eminence, microcephaly, and/or microphthalmia.[1] Renal aplasia, horseshoe kidney, and syndactyly have also been reported.[3] However, in our case, only cystitis and large echogenic calculus of size 1.2 cm was present in the dependent part of the urinary bladder, in the younger brother. In our patients, mottled pigmentation all over the body, short stature with height and weight below the 3rd centile, microcephaly in the younger brother, progressive pancytopenia with hypoplastic anaemia on bone marrow aspiration, led to the diagnosis of Fanconi's anemia. The patients were given blood transfusions and anabolic steroids (stanozolol 2 mg/kg/day initially which is still continuing). They are on continuous follow up. There is weight gain, increase in height, and improvement in blood counts. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest. Acknowledgement We acknowledge the assistance of Dr. Raman Lab, Department of Zoology, Banaras Hindu University for karyotyping.

Isabella's Basil

Isabella's Basil Lynda Sexson (bio) A girl lived with her mother and three brothers in a rundown house of Italianate lines. While the daughter tended pots of dainty herbs, the mother lay down, pale upon her bed. Her daughter lay down beside her. They were like a botanical engraving, two stems in two variants, blown and budding. The house, too, desired to die: A ceiling cracked. A window shattered. A door unhinged. ________ The brothers knew just how to plant their mother's remains, but were at a loss over the girl left alive. The eldest brother said, "She's not yet ripe for marriage." The middle brother said, "She needs meat and manners." The youngest brother said, "I'm making a list of bachelors with arable land and ready cash. Maybe horses. Houses. Boats. Lakes." After tucking their mother into the earth, the first brother caught his sister in his arms, saying, "Sit on my lap and weep on my neck." To her last breath their mother had reproached him, "Let her go." The walls of the house remembered, murmuring, "Let her go." The second brother socked his sister until her flesh looked like plums in a porcelain bowl. The third brother called his sister ugly and poked her with his fork. The girl hid beneath the stairs and under the impression that she could make herself invisible. ________ Their land spread in two directions from the house, requiring the brothers to travel great distances for hunting and making speeches. They hired a strong and clever boy with eyes like a fawn to patch up the house in their absence. The eldest brother told the hired boy, "There's a gosling loose in the house. When it flutters, you might mistake it for a girl. If you approach, it will take out your eye." The middle brother instructed, "If you see the ghost of our mother resembling a gawky girl do not disturb her mourning or she will snatch out your soul." The youngest brother said, "Go near our sister and die." [End Page 65] And before they left, the first brother warned their sister, "Do not let him see you." The second said, "Stay hidden." But the third brother said to her, "Do not look at him." ________ As soon as they departed, the handsome boy came to mend cornices and brackets. He searched attic to eaves, pantry to parlor, even calling down the well for the gosling. The girl stealthily observed his skills with his grandfather's tools. Lathe. Chisel. Clamps. Brushes. A brass teardrop plumb bob. She watched him repair the gate so it could swing again. When the boy left she tested it. He stayed at a distance and watched her. The next day he pulled out the bishop's weed overtaking her mother's bleeding hearts. The girl came close enough to study his eyes like a fawn. Hair like a lamb. Nose like a hawk. He wiped the sweat from his face with his shirt, sloughing it off in the garden. Snatching the damp shirt, she folded and folded it, then set it by the door. She crouched among the bleeding hearts, laying plump, heart-shaped blossoms one by one upon her tongue until she was trembling and could hear her mother's voice again. "Inedible, Darling." The boy had turned back, coming up behind her. Did he say, "Poison, Darling"? She ran into the house. He picked up his shirt, folded like a gift. That night a litter of seven kittens appeared on her mother's old quilt. The girl kept them hidden up in the cupola, fearing the brothers' burlap bag. Heavy stones. Swelling creek. ________ Returning home, the brothers looked hard at their sister to find out if she had disobeyed them. She turned away and twisted her hair. The first brother said, "We'll marry her off soon, but no one wants a frail or sulky bride." The second brother climbed to the cupola and found the litter of kittens. The third brother rushed for a burlap bag. The first brother gave the order. In the sack of dead cats the girl found one still alive, dried him...

TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus.

Congenital heart disease (CHD), the most common form of developmental abnormality in humans, remains a leading cause of morbidity and mortality in neonates. Genetic defects have been recognized as the predominant causes of CHD. Nevertheless, CHD is of substantial genetic heterogeneity and the genetic defects underlying CHD in most cases remain unclear. In the current study, the coding regions and splicing junction sites of the TBX20 gene, which encodes a T-box transcription factor key to cardiovascular morphogenesis, were sequenced in 175 unrelated patients with CHD, and a novel heterozygous TBX20 mutation, p.K274X, was identified in an index patient with tetralogy of Fallot (TOF). Genetic analysis of the proband's available family members showed that his father, elder brother and son had also TOF. In addition, his father and elder brother had also atrial septal defect, and his niece had persistent truncus arteriosus and ventricular septal defect. Analysis of the pedigree revealed that the mutation co-segregated with CHD transmitted in an autosomal dominant fashion, with complete penetrance. The nonsense mutation, which was absent in the 800 control chromosomes, was predicted to produce a truncated protein with only the amino terminus and partial T-box domain left. Functional analyses by using a dual-luciferase reporter assay system showed that the mutant TBX20 lost the ability to transactivate the target gene ANF. Furthermore, the mutation reduced the synergistic activation between TBX20 and NKX2.5 as well as GATA4, two other transcriptional factors previously associated with various CHD, encompassing TOF. This study firstly links TBX20 loss-of-function mutation to familial TOF or sporadic persistent truncus arteriosus, providing novel insight into the molecular pathogenesis of CHD.

A rare case of familial reactive perforating collagenosis

Reactive perforating collagenosis (RPC) is a rare disorder of transepidermal elimination in which genetically altered collagen is extruded out through the epidermis. This disease usually starts as asymptomatic or pruritic umbilicated papules on extensor aspects of extremities and face, and the lesions become more conspicuous with age. It has two forms: Acquired and inherited form, of which inherited form is extremely rare. Here, we document a case of inherited form of RPC in a 13-year-old boy having multiple asymptomatic hyperpigmented umbilicated papules with a central keratotic plug distributed chiefly over face and extensor aspect of upper and lower extremities since his infancy, with history of similar lesions in his 18-year-old elder brother.

Battlefield by Jean-Claude Carrière

Reviewed by: Battlefield by Jean-Claude Carrière E. Teresa Choate Battlefield. Based on the Sanskrit epic The Mahabharata and the play The Mahabharata, written by Jean-Claude Carrière, adapted and directed by Peter Brook and Marie-Hélène Estienne. Théâtre des Bouffes du Nord, Next Wave Festival, BAM Harvey Theater, Brooklyn, New York. October 8, 2016. Thirty years after bringing the complex, nine-hour The Mahabharata to the Brooklyn Academy of Music (BAM), Peter Brook, his frequent collaborator Marie-Hélène Estienne, and musician Toshi Tsuchitori returned with Battlefield. In contrast to the earlier production, which included over twenty actors, 20,000 pounds of mud, and a ring of fire, Battlefield was fairly minimalistic, featuring just four actors performing on a bare, umber-textured stage that contained sticks, a low box on wheels, and two pieces of fabric. Beginning near the end of The Mahabharata’s storyline, the performance invited spectators to contemplate war as a plague that infects victors and losers alike. As Brook observed in the production’s program, its central protagonists—two kings who struggle with the costs of violence—also provide important lessons for contemporary leaders. The production employed spare visual aesthetics to sharpen focus on the play’s central story and themes. The performers, for example, wore simple black pants and shirts, adding a single element to differentiate various characters: a yellow scarf for the god Krishna, a brown coat for King Yudhishthira, a large golden shawl for the great warrior Bhisma. These same costume pieces served to streamline transformations, as when Bhisma died, an actor was covered with the golden shawl and emerged as Krishna. Piles of sticks (perhaps an homage to their frequent use in The Mahabharata) were sparingly employed in Battlefield, as when two bamboo sticks became a scale to weigh the flesh of a pigeon against that of a king. Phillippe Vialatte’s lighting seldom drew attention to itself, except in two moments when red light flooded the stage as characters gave themselves to death so as to be reborn. The production’s aural aesthetics were also stark. Tsuchitori provided the heartbeat of the production on a single instrument, the djembe. Music and voice combined to create a ritualistic sound. The actors’ vocal delivery was deliberate, with significant pauses and little emotion. This aural and visual simplicity was occasionally punctuated by sudden and startling contrast, such as in the scene following Bhisma’s death, which featured his mother, Ganga, wailing loudly in sorrow. Her red, kimono-like robe was employed like the handheld curtain (javanika) used in traditional Sanskrit theatre. Such moments prevented the audience from falling too deeply into the soothing rhythm of meditation, and brought us back into the realm of active contemplation. Click for larger view View full resolution Sean O’Callaghan, Jared McNeill, Ery Nzaramba, and Carole Karemera in Battlefield. (Photo: Richard Termine.) To create this postwar, minimalist fugue, a few lines of The Mahabharata joined with new stories from the Hindu epic. The episodic structure of the script repeatedly drove home the idea that war’s aftermath means universal defeat. The kings (Brook’s stand-in for today’s leaders) were taught stark lessons of personal loss. Dhritarashtra was coolly informed, “[t]he destruction of your sons was inevitable.” The victorious king’s mother, Kunti (Carole Karemera), informed Yudhishthira that Karna, a great enemy, was in fact his elder brother. The kings, having grappled with war’s aftermath, found reconciliation. However, in Battlefield, as in life, reconciliation was not the end of the journey to understanding but the beginning. While The Mahabharata foregrounded spectacle, it was lessons that mattered most in Battlefield. Bhisma, sitting on a box covered in a large shawl, offered instruction to Yudhishthira through a series of lively, sometimes humorous stories about dharma (the way of life and the moral order of the universe), as well as the duties of a ruler. Playing both human and animal characters, four fables—about a snake whose destiny was to kill a boy; a ruler who gave his life for that of a bird; a worm who treasured his lowly life; and a man who relished honey even in the face...

A Novel Mutation in the AVPR2 Gene in a Palestinian Family with Nephrogenic Diabetes Insipidus

AbstractNephrogenic diabetes insipidus (NDI) is a urinary concentrating defect resulting from resistance of the collecting duct to the antidiuretic action of vasopressin (AVP). The X-linked recessive form is the most frequent genetic cause of inherited NDI and can be caused by mutations in the gene encoding the V2 vasopressin receptor (AVPR2). A Palestinian male infant presented in the neonatal period with failure to thrive, vomiting, irritability, fever, and polyuria, and had biochemical findings consistent with NDI. The diagnosis of NDI was established based on the clinical picture, absent response to desmopressin, and a similarly affected elder brother. Sequencing of the AVPR2 gene for the patient and his affected brother revealed a novel missense mutation with replacement of G by A in codon 82 located in exon 2 (TGC → TAC), causing a cysteine to tyrosine substitution (C82Y). Testing of the mother showed that she was the carrier of that mutation. This is the identified AVPR2 mutation in a Palestinian family. Knowledge of these mutations will allow genetic counseling and early diagnosis of affected males.

Remembering and Recreating Origins: The Transformation of a Tradition of Canonical Parallelism among the Rotenese of Eastern Indonesia

Remembering and Recreating Origins:The Transformation of a Tradition of Canonical Parallelism among the Rotenese of Eastern Indonesia1 James J. Fox (bio) Personal Prefatory Remarks I have been studying an oral tradition of strict canonical parallelism intermittently for nearly half a century. I began my research on this oral tradition based on the island of Rote in eastern Indonesia in 1965, and have continued these efforts, now with greater urgency, to the present. I have also been investigating issues in comparative parallelism for roughly the same period of time. In 2014 I published Explorations in Semantic Parallelism, which marked an important stage in this research. This volume is a collection of papers both new and old. For example, I reprinted my first survey of the field in 1977 published in honor of Roman Jakobson together with a longer paper on the "trajectory" of subsequent and continuing developments in the study of parallelism. Explorations in Semantic Parallelism also reprints several of my papers on the study of the Rotenese tradition of canonical parallelism together with various papers that continue to extend my study of this tradition. My personal understanding of the Rotenese tradition of canonical composition has grown over several decades, while the tradition itself has been undergoing change. My perceptions of this change are intimately linked to my increasing comprehension of the tradition as a whole. In this paper I take stock of the work on that tradition to date and to put it into perspective. I also describe the changes that have occurred in the tradition over the course of my research as I gradually gained new perceptions of its fundamental underpinnings. Much of my general research on Rote has been historically oriented. The island has its own extensive oral historical traditions as well as Dutch archival records that date to the mid-seventeenth century. Some of the changes in Rote's traditions of parallelism that I perceive as most significant were, on good historical evidence, begun a century earlier and have now taken over as ever more influential. Introduction to the Study of Rotenese Ritual Language: The Context of Recitation For a period of roughly four decades, all my recordings of the Rotenese "ritual language" were opportunistic. They were made during the course of ongoing fieldwork, primarily in one domain on the island, that of the central domain of Termanu (see Fig. 1). Recordings often occurred at ritual gatherings but just as often they happened when an individual poet or chanter chose to provide me with a particular recitation. One attraction for such recitations was that I always made certain to have a ready supply of native palm gin, which is regarded by the Rotenese as the "water of words," and is both a stimulus and requisite for recitation.2 Although these efforts at recording could hardly be considered systematic, they were neither fortuitous nor without plan. During my first fieldwork, I was fortunate in having as my language teacher, an elder master poet, known as Old Meno, who held the ritual office of Head of the Earth. His first male grandson was born shortly after I arrived, and he was taken with the possibility offered by my Uher tape recorder of transmitting his knowledge across generations. More than any other poet whom I have recorded, he had a concern for revealing and thus possibly preserving core traditions of origin. Other poets were stirred to record by the rivalry that existed among them. The fact that I had recorded from a particular poet and let it be known that I valued that recitation would prompt other poets to want to record. Most recordings were of individuals and, if it was at all possible, I would work through the recording and transcription with that poet. Early in my fieldwork, on the advice of the elder brother of the ruler (Manek) of Termanu, I declared an interest in recording a particular text, Suti Solo do Bina Bane. This became a kind of key signature text that I recorded from many poets over the years. I also sponsored particular mortuary rituals at which recitation was required. Chanters would come to perform and, as was once the case throughout the island...

Focus: Labour activists need greater protection for freedom of expression

20 | International Union Rights | 24/3 FOCUS | FREEDOM OF EXPRESSION Labour activists need greater protection for freedom of expression A critical part of the work of trade unionists and labour activists, and indeed human rights activists more generally, is to challenge a wide range of actors, both state and private, who have impacted on human rights, and to hold these actors to scrutiny and to account. Of concern to ICTUR are those cases reported to us in which activists undertake such work, in a context that appears to be genuine and sincere human rights advocacy, and yet in which they are subject to forms of legal retaliation that either seek to punish them for their advocacy or that bar them from speaking out further. In recent years two cases stand out as examples of this kind of litigation, that of Andy Hall in Thailand, and of Wilson Sossion in Kenya. In both cases the plaintiffs are private corporate interests, claiming to have been damaged by the activists’ human rights work. The two cases have striking relevance for the question of transnational supply chain regulation and the growing demand for action around the intersection of transnational business and human rights generally. Hall is a British researcher, working for a Finnish NGO, examining the situation of migrant workers from Myanmar, working for a Thai company, supplying European markets. Sossion is a Kenyan union leader working with an international teachers’ union in Belgium, looking at the impacts of a US company. Thailand: British activist hounded by defamation law Migrant rights defender and researcher Andy Hall worked as a research coordinator for a Finnish NGO Finnwatch in 2012, which published his findings in the report Cheap Has a High Price in January 2013. The Natural Fruit Company Ltd. reacted to the report by pressing multiple criminal and civil charges against Hall. The company also cited an interview Hall gave to Aljazeera in Myanmar in response to his original prosecution as being defamatory. Natural Fruit also alleged Hall’s involvement in uploading on to Finnwatch website a confidential communication regarding the Finnwatch report. Natural Fruit filed two cases against Hall under criminal defamation provisions in Thailand's Criminal Code as well as two civil defamation cases. One of the criminal defamation cases also includes allegations under the Computer Crimes Act. Natural Fruit Company Ltd. is a company that produces pineapple products. The owner of Natural Fruit Mr. Wirat Piyapornpaiboon is the elder brother of Thailand's former labour minister and former general secretary of the Democratic Party Chalermchai Sri-On, who was also the senator of Prachuap Khiri Khan province for many years. Wirat Piyapornpaiboon has many other businesses. Wirat Piyapornpaiboon is an important actor in Thailand's pineapple industry as he is the President of the Thai Pineapple Industry Association (TPIA). TPIA represents over 60 pineapple companies in Thailand. Hall is a 37-year-old British national who lived in Thailand for 11 years working as an academic and promoting the rights of migrant workers in Thailand. Civil defamation case: the first of the four cases to reach a trial stage was a criminal defamation case which dealt with an interview Andy Hall gave to Aljazeera in Yangon, Myanmar, in April 2013. The case charges carried a maximum penalty of 1 year imprisonment. The trial was heard from 2 to 10 September 2014 at Prakanong Court, Bangkok. ICTUR sent Australian barrister Mark Plunkett, to observe proceedings. On 29 October 2014, the Court delivered a verdict dismissing the charges. Following various attempts to reinstate the case the Appeals Court dismissed the challenge on 18 September 2015, and the Supreme Court also dismissed the case on 3 November 2016. Criminal Defamation and Computer Crimes Case – Finnwatch Report: after seven preliminary hearings held between 17 November 2014 and 20 July 2015, the Bangkok South Criminal Court on 24 August 2015 decided to proceed to a criminal trial with the original criminal defamation and computer crimes prosecutions brought by Natural Fruit Company Ltd. The charges carried a combined maximum penalty of 7 years' imprisonment. Following a complex process with several rounds of preliminary hearings, the Bangkok South Criminal Court issued its verdict in this case on 20 September...

„ICH FORDRE SO VIEL FREIHEIT UND MUSSE, ALS NÖTIG IST, ÜBER MICH SELBST, ÜBER MEINE BESTIMMUNG UND MEINEN WERTH ALS MENSCH ZU DENKEN“.1 ZUR KUNST- UND FREIHEITSKONZEPTION BEI KARL PHILIPP MORITZ

In 1786 in Rome, Johann Wolfgang Goethe wrote about him: “He is my younger brother; we art cut from the same mould. However, fate was against him, whereas I was fortune’s favourite.” He meant Karl Phillip Moritz (1756-1793), a German writer and art critic, Greek mythology historian, precursor of modern psychology and the author of psychological novel. If we assume that Goethe’s comments concern Moritz’s material and social status only, we would have to admit that Goethe was right. However, if we apply these judgments to the quality of his (Moritz’s) works, we would be inclined to saying that in this case the great Goethe was wrong. In his aesthetic, Moritz is far more interesting and progressive than his “elder brother”; in his literary criticism – more consistent than Schiller, and in perceiving society and politics – more radical than Kant. This article is mainly on key concept regarding Moritz’s aesthetic works: the concept of beauty and its functionalism. Definition of “the work of art” as a closed, specified unity enables Moritz to get out of the frame of aesthetics itself and to enter the sphere of politics. Moritz liberates man from the restraints of utility and treats him as a noble individual who possesses the artistic value in himself.

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

BRCA1 and BRCA2 play critical roles in maintenance of genomic integrity, DNA repair, and cell cycle checkpoint control. Deficiency in BRCA-associated DNA interstrand crosslink (ICL) repair is connected to breast cancer susceptibility and Fanconi anemia (FA) which is an autosomal recessive disorder that causes genomic instability along with abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. Homozygous or compound heterozygous mutations in the BRCA2 gene are well associated to severe FA phenotype (FANCD1) and solid tumor development. However, biallelic mutations in BRCA1 are extremely rare suggesting that most combinations of deleterious BRCA1 mutations might be lethal. In this study using whole exome sequencing we report the first homozygote nonsense BRCA1 mutation associated with Fanconi anemia in a three generation Turkish consanguineous family.The afected individual is a five year-old girl who was diagnosed to have stage IV neuroblastoma at the age of two and treated uneventfully, in addition to a surgical intervention for ASD and VSD. During the follow-up she was diagnosed to have FA. Spontaneous chromosamal breakages were high, despite normal MMC and DEB. The physical examination revealed, microcephaly, short stature, microphtalmia, cafe-au-lait spots. Hb 11.2 g/dl, MCV 87.5 fl, WBC: 4.3x109/L and platelets 130 x109/L. She had received no transfusions except for the those during the chemotherapy for neuroblastoma treatment. Growth hormone deficiency was found. Cranial MRI exhibited widespread gliosis areas and prominences in the cerebral cortical sulci. Her elder brother was 13 years-old at the diagnosis. The physical examination revealed mental retardation, microcephaly, microphtalmia, cafe-au-lait spots and undescended testis. Small kidneys and periventricular and subcortical gliotic areas and central adrenal insufficiency were identified. Spontaneous chromosomal breakages were high and further increased with DEB. Both parents and two other siblings were healthy although uterus Ca, esophagus Ca and lung Ca were detected in family members in the history.A homozygous stop codon mutation in exon 10 of BRCA1 gene, c.1151T>G/ p.Leu384Stop was identified in the whole exome study using Illumina HiSeq 2000 platform. Both afected individuals were homozygote and the mother was heterozygote fort his mutation DNA of the healthy father of affected siblings was not available.To the best of our knowledge there are only two reports that compound heterozygote mutations in BRCA1 causes FA-like subtype (FANCS) (Domchek et al., Cancer Discov. 2013; 3:399-405 and Sawyer et al., Cancer Discov 2015; 5:135-142). In these reports, the patients do not display bone marrow failure, mutation carriers have higher risk of breast and ovarian tumors and lower onset age. However, one of the siblings in our report had mild thrombocytopenia. Also compatible with the previous report, our patients had intellectual disability. Interestingly, one of the siblings in our series had neuroblastoma and family members had uterus, esophagus and lung cancers. Our findings clearly show that homozygous deletorious BRCA1 mutations are vital and molecular analysis expands the spectrum of phenotypes associated with BRCA1 mutations. DisclosuresNo relevant conflicts of interest to declare.

Faisal I of Iraq

Faisal I of Iraq

Abstract 12739: Gap Junction Protein Beta 4 Plays an Important Role In Cardiac Hypertrophy and Cardiac Function in Human and Zebrafish

Introduction: Gap junction protein beta 4 (GJB4) encodes a transmembrane connexin protein (Cx30.3) that is a component of gap junctions. Mutations in this gene remain unknown to be associated with hypertrophic cardiomyopathy (HCM) and cardiac dysfunction. Hypothesis: Our hypothesis is that mutations in GJB4 can cause familial HCM, which can progresses into dilated-phase HCM (d-HCM). Methods: We have previously examined a patient and her elder brother who both presented with complicated severe HCM and whose parents are married cousins. The elder brother had died suddenly as a child and the autopsy demonstrated the development of HCM. The patient was diagnosed with HCM, which progressed to d-HCM during the 20-year follow-up. The patient has recently undergone cardiac transplantation. The parents are healthy. We hypothesized that an autosomal recessive mutation caused their familial HCM. The whole-exome sequencing was performed from each of the three participants. We generated knockout zebrafish of GJB4 and ELP2 by CRISPER/Cas9 system and analysis the volume and function of ventricle at five days post fertilization (dpf). Results: The gene exome analysis showed 34 single nucleotide polymorphisms (SNPs) that caused amino acid change for which the patient was homozygous and both parents were heterozygous after excluding all known common (>10%) SNP gene mutations in the dbSNP. Among them, GJB4 and ELP2 were the identified genes that are possibly associated with cardiac muscle. The PolyPhen-2 scores of mutations in GJB4 and ELP2 were 1.000 and 0.001 respectively. The identified missense mutation was a 981 A>C nucleotide transition in GJB4. The resultant E204A substitution replaces a polar carboxylic glutamate with a nonpolar alanine. The endodiastolic volume was significantly lower in GJB4-KO (94pl, p<0.01) and ELP2-KO (95pl, p<0.01) than in wild type (WT, 145pl) zebrafish at 5 dpf. Furthermore the ventricular ejection fraction was decreased in GJB4 KO (0.66, p<0.01) and unchanged in ELP2-KO (0.80) respectively compared with WT zebrafish (0.82). Conclusions: These results indicate both that mutations in GJB4 and ELP2 can cause a familial form of HCM and that GJB4 especially may be a new target for treatment of cardiac function and hypertrophy.

ISTILAH KEKERABATAN DALAM MASYARAKAT BAHASA MAKIAN TIMUR

This research is making use of descriptive qualitative method. The data are collected with the method of Sudaryanto (1993) that is listening and interviewing method, make use the technique of free listening and interviewing with a list of questionaire. This research makes use the theory of Burning (1970) and Koentjaraningrat (1980) to answer the first problem, and of Spradley (1979) and Casson (1981) to the second one. The result of this research shows that the consanguinal kinship terms are Baba (father), Tou (grandfather), Wos (ego’s father), Galawewe (father of ego’s grandfather), Karekare ( grandfather of Ego’s grandfather), Baay (ego’s mother), Nene (mother’s mother), Nenewos (mother of nene), Nenegalawewe (mother of nenewos), Nenekarekare (mother nenegalawewe). Nikmapin (wife of masculine ego), Nikmon (husband of feminine ego), Tamno (ego’s elder brother), Thano (ego’s younger brother), Damo 1 (ego’s sister), Damo 2 (ego’s brother), Mtu (ego’s child), Bbu (ego’s grandchild), Bbuwos (child of ego’s grandchild), Bbugalawewe (grandchild of ego’s grandchild), Bbukarekare (buyut dari ego). Afinal kinship terms: Nikmon (husband), Nikmapin (wife), Tafu (brother in-law), Hono (sister in-law), Iho (in-laws), Akmomon (wife’s father), Akmomapin (wife’s mother), Haliha (mother/father in-laws), Kanglolo (elder brother of father or mother), Kangkutu (younger brother of father or mother), Baaylolo (mother’s elder sister), Jojo (mother’s younger sister). Other kinship terms include: Jau (Allah), Kakang (guru ngaji), Engku (masculine teacher), Encik (feminine teacher). Keywords: kindship terms of East Makian language

‘THE RULE OF THREE’ IN THE GROWTH STORIES – GANGBAIK LEE’S DRAMA “LIKE LOOKING AT THE FLOWER IN THE MIDWINTER”

This paper focused on the structure of the growth stories, especially in surveying Gangbaek Lee’s (이강백) drama “Like Looking at the Flower in the Mid-winter (동지섣달 꽃 본 듯이)”. It is structured by ‘rule of the three’. In this text, three sons go to seek their mother, they experience the tests three times. Third son wins the game because he succeeds to find his true and alternative mother. It is similar to the story of English fairy tale “Three Little Pigs”. In Freudian terms, the characters of the both texts are superego, ego and id. The core of the growth story is that third son (id) wins the first son (superego) and the second son (ego) by using his own energy (meaningful labor). In Levi Strauss’ terms, the contrast between the third and the others can be schemed the contrast between culture and nature. Lee’s drama presents the third son as the real hero who overcomes two elder brothers. The first is so conservative (oversleep), the second is so selfish (overeat). Two brothers were too political or too ideal to become a true, humanistic and warm-minded adult. In his view, ‘drama’ related to the third son is the most humanistic and warm-minded action in the world. These both stories are based on the plot ‘rags to riches’ which contains the success of the poor and powerless. In other words, the poor and weak child can grow to the true hero, and reach the final destination, according to the Gustav Jung’s expression, ‘the Self as a Whole’.

"I Am Becoming More and More Like My Eldest Brother!": The Relationship Between Older Siblings, Adolescent Gambling Severity, and the Attenuating Role of Parents in a Large-Scale Nationally Representative Survey Study.

The present study examined the association between having older siblings who gamble and adolescent at-risk/problem gambling and how parents (i.e., parental knowledge of their whereabouts) and peers might moderate such effects. Data were drawn from the ESPAD®Italia2012 survey (European School Survey Project on Alcohol and Other Drugs) comprising a nationally representative Italian sample of adolescents. The analysis was carried out on a subsample of 10,063 Italian students aged 15-19years (average age=17.10; 55% girls) who had at least one older sibling and who had gambled at some point in their lives. Respondents' problem gambling severity, older gambler sibling, gambler peers, parental knowledge, and socio-demographic characteristics were individually assessed. Multinomial logistic regression analyses including two- and three-way interactions were conducted. The odds of being an at-risk/problem gambler were higher among high school students with older siblings that gambled and those with peers who gambled. Higher parental knowledge (of who the adolescent was with and where they were in their leisure time) was associated with lower rates of at-risk/problem gambling. There was also an interaction between gamblers with older siblings and parental knowledge. The combination of having siblings who gambled and a greater level of parental knowledge was associated with lower levels of problem gambling. The present study confirmed the occurrence of social risk processes (older siblings and peers who gambled) and demonstrated that gambling among older siblings and peers represents an important contextual factor for increased at-risk/problem gambling. However, parental knowledge appears to be sufficient to counterbalance the influence of older siblings.

Pedigree survey in a family with hereditary protein S deficiency

Objective: To observe the clinical feature of familiar hereditary protein S deficiency(HPSD), and to explore the related gene mutations. Methods: A total of seven family members were enrolled in this study and examined during the June to September 2015. Medical histories of the families were analyzed to detect HPSD according to the diagnostic criteria. PROS1 genes of the proband and her family were analyzed. DNA was extracted from peripheral blood. The 15 exons and their intron-exon boundaries of PROS1 were amplified with PCR, and the PCR products were sequenced and analyzed to identify potential mutations. Medical histories from the family members died prior this study were also obtained. Results: Four out of 7 family members of 2 generations were diagnosed as HPSD. The proband suffered from pulmonary embolism, her elder brother suffered from cerebral infarction and her niece suffered from deep vein thrombosis. A missense mutation at the 1063 bp of cDNA(c.1063C>T)was detected in the exon 10 of PROS1, which resulted in arginine 355 to cysteine replacement in the first ball domain of laminin of the protein S(p.R355C). Conclusion: HPSD is an autosomal dominant genetic disease, patients often suffer from recurring vein thrombosis and pulmonary embolism. A missense mutation(c.1063C>T, p. R355C)of PROS1 was discovered in this Chinese family with HPSD, thus, this mutation might be the genetic basis responsible for these family members with HPSD .