Nephew Research Articles

Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle

BackgroundThe tafazzin gene (TAZ) is located at Xq28 and encodes a protein involved in the transacylation of cardiolipin, an essential mitochondrial phospholipid. Mutations in TAZ are associated with Barth syndrome (BTHS), the X-linked recessive condition with dilated cardiomyopathy, skeletal myopathy, growth retardation, neutropenia and organic aciduria. TAZ mutations also contribute to left ventricular noncompaction (LVNC), a cardiomyopathy characterized by loose, trabeculated myocardium. Case reportWe report a family with a novel TAZ mutation and the clinical spectrum from severe BTHS in an infant to skeletal myopathy with LVNC in an adult, the oldest individual with BTHS reported. The proband is a 51-year-old male with muscle weakness since early childhood. He remained stable until the age of 43. His initial evaluations found LVNC and borderline neutropenia with no elevation of urine 3-methylglutaconic acid. The proband's great nephew is a 3-year-old who presented at birth with poor feeding, hypotonia, lactic acidosis and hypoglycemia. At three months he was admitted with failure to thrive, lethargy and respiratory distress due to heart failure. Cardiac studies revealed dilated cardiomyopathy with a spongiform trabeculated pattern of the left ventricle. Laboratory studies showed cyclic neutropenia and elevated urine 3-methylglutaconic and 3-methylglutaric acids. At age 11months the patient had a heart transplant. We conducted sequence analysis of the TAZ gene for two affected individuals, the proband first and then his great-nephew. A novel, hemizygous nonsense mutation in TAZ exon 7 (c.583G>T, p.Gly195X) was detected. ConclusionAt his current age of 51years-old, the proband is the oldest surviving individual reported with a confirmed molecular diagnosis and features of Barth syndrome. Further studies will be conducted to identify the genetic modifying factor(s) associated with the wide phenotypic range seen in this family.

My Niece Hangs Herself at 35

My Niece Hangs Herself at 35

“Am I Going To Die, Aunt Deborah?”

A nurse relays her experience with the death of her 10-year-old nephew, and offers resources for helping children and families facing death.

Car, and: To My Nephew on his Tenth Birthday

Car, and: To My Nephew on his Tenth Birthday

Mrs. Professor

Mrs. Professor

Molecular mechanism of a pedigree with inherited coagulation factor VII deficiency

Objective To identify gene mutations and explore the molecular mechanism of a pedigree with inherited coagulation F Ⅶ deficiency. Methods The levels of F Ⅶ: Ag in the proband and other family members were measured by ELISA assay. The values of PT, F Ⅶ: C and other coagulant parameters were determined by one-stage clotting for laboratory phenotype diagnosis. All the exons,exon-intron boundaries and 5',3' untranslated sequences of F7 gene were amplified by direct sequencing. The detected mutations were further confirmed by sequencing the other stand. The CLC Protein Workbench software was used to analyze the species conservation of the mutated site and the protein secondary structure. 100 healthy individuals were selected to exclude gene polymorphism. Results PT, FⅦ∶C and FⅦ: Ag in the proband and his sister were abnormal, which were 36. 3 s, 5.0%, 40. 7% and 33.4 s,5. 0%, 37.4%, respectively. Both PT and FⅦ∶C in the proband's father, mother, daughter and niece were slightly abnormal, which were 14.9 s, 14. 6 s, 15.5 s, 14. 6 s and 70%, 85%, 59%, 79%, respectively.The heterozygous mutations c. 784T ＞ C and c. 964T ＞ G in exon 8 of F7 gene were found in the proband,resulting in the substitutions of Ser269Pro and Cys329Gly respectively. Compound heterozygous mutations c. 784T ＞ C and c. 964T ＞ G were found in the proband's sister. The proband's mother was heterozygous for c. 784T ＞ C. His father, daughter and niece were heterozygous for c. 964T ＞ G. The protein biological characteristics analysis revealed that the Cys329Gly caused the change of spatial configuration, and Ser269Pro led to the change of amino acid polarity and hydrophobicity. Conclusion Compound heterozygous mutations of Cys329Gly and Ser269 Pro in F7 gene may be the underlying molecule mechanism of FⅦ deficiency in this pedigree. Key words: Factor Ⅶ deficiency; Blood coagulation disorders,inherited; Mutation; Polymerase chain reaction

Smith & Nephew Ezcare Pump

Smith & Nephew Ezcare Pump

Siblings and Spouses in the Context of Culture

In South India, siblings are more important than spouses, and the question of marital quality turns on the nature of the relationship between brothers and sisters. Here we examine the implications of a “sociocentric” perspective that does not privilege, in the way Western “egocentric” systems usually do, measures of individual happiness and satisfaction. Instead, the emphasis is on maintaining the solidarity of larger kinship structures, which, in South India, center on clans united by cross‐cousin marriage—that is, marriage of a (male) ego either to his mother's brother's daughter or his father's sister's daughter. The quality of these structures, in turn, depends on the relationship between brothers and sisters, and we therefore conclude that siblings, not spouses, are the social center of gravity in this region.

Tchaikovsky (review)

Reviewed by: Tchaikovsky Albrecht Gaub Tchaikovsky. By Roland John Wiley. (The Master Musicians.) New York: Oxford University Press, 2009. [xxi, 546 p. ISBN 9780195368925. $39.95.] Plates, music examples, work list, glossary, bibliography, index. [End Page 126] Roland John Wiley, professor of musicology at the University of Michigan, published a book on Tchaikovsky's ballets (Tchaikovsky's Ballets: Swan Lake, Sleeping Beauty, Nutcracker [New York: Oxford University Press, 1985]), and wrote the article on the composer in the second edition of The New Grove. Now he has written a life-and-works monograph on the composer. The book is in fact not so new: according to his own testimony (http://www.annarbor.com/entertainment/u-m-scholar-has-new-tchaikovsky-biography/ [accessed 26 May 2010]), Wiley had already conceived it in 1990. The unusually long gestation period of his book saw not only the demise of the Soviet Union, but also a new wave of Western literature on Tchaikovsky. In his preface, Wiley criticizes these publications for neglecting Tchaikovsky's music in favor of his biography, and it is his goal to set this straight (no pun intended). The final result has been published in Oxford's series "The Master Musicians." This is remarkable insofar as this series already included a book on Tchaikovsky (Edward Garden, Tchaikovsky [London: Dent, 1973]), which Wiley's is undoubtedly intended to supersede. Not surprisingly, Wiley repeatedly takes on Garden and also David Brown, whom he punishes by excluding volumes 3 and 4 of the latter's four-volume monograph (Tchaikovsky [New York: W. W. Norton, 1978–1992]) from his otherwise rather extensive "select bibliography" (451 titles in alphabetical order). Speaking of Wiley's bibliography, it doubles as a numbered reference list for citations: his book comes without footnotes or endnotes. Wiley arranges his book in chronological order, and each chapter on a given period of Tchaikovsky's life is followed by another one on the music composed during the same period. He calls this arrangement "a difficult choice"; he chose it to counteract "the premise [prevalent in older literature on Tchaikovsky] that all of Tchaikovsky's music had immediate and profound motivation in his life" (p. xviii). Still, he is convinced that some of Tchaikovsky's works (the usual suspects from the Fourth to the Sixth Symphonies, Eugene Onegin, etc.) had such a motivation. The biographical chapters are a particular pleasure to read. Wiley's dealing with Tchaikovsky's homosexuality as well as with other facets of his personality that may cause or have caused controversy is straight-forward. I was particularly intrigued by two lesser-known phenomena exposed at length. The first is Tchaikovsky's inability to budget. Even with generous subsidies from Nadezhda von Meck, from his publisher Jurgenson and, last but not least, the House of Romanov, he was always short of money due to his lavish lifestyle and inclination to make generous gifts, and he inadvertently asked for more, feeling entitled to it. When he writes (in 1879) to one of his creditors, Vladimir Shilovsky, "you are a rich Maecenas and I am a poor artist" (p. 215), Tchaikovsky comes across as both preposterous and hypocritical. The second is the eerily unanimous, clannish behavior of Tchaikovsky's brothers, who seem to have placed the common good of the family's reputation over everything else. How they planned the details of Tchaikovsky's separation from his wife (p. 152ff.), how they spirited their sister's daughter away to Paris to let her give birth to an illegitimate child (pp. 246–47), how they brought that child back to Russia to be adopted by Tchaikovsky's oldest brother, Nikolay (pp. 290–91)—all this sets the stage for what happened after Tchaikovsky's death, when they immediately started destroying, cutting out from, and blotting out in Tchaikovsky's papers everything that might have compromised, according to the values and mores of Russia in 1893, their brother's posthumous reputation, and maybe their own as well (p. xiv). The culmination of this cover-up operation was the publication of Modest Tchaikovsky's three-volume biography in 1903 (Zhizn' Petra Il'icha Chaikovskago [Moscow: Sobstven nost izdatelia P. IUrgensona, 1903]), ostensibly endowed with the...

The Metaphorical Use of Avuncular Terminology in Buriad Diaspora Relationships with Homeland and Host Society

AbstractThe significance of the kinship relationship between the mother's brother and sister's son (avunculate) was one of the most discussed topics in the history of social anthropology. Two theories of pre-Schneiderian age – descent and alliance approaches – both consider avuncular relations as being tense and contradictive, associated with certain privileges of the maternal uncle and his senior hierarchical position in relation to Ego. This paper tries to establish the relevance of this classical anthropological theme to contemporary social and political realities in Buriad society, specifically to extend the discussion of the classificatory/metaphorical use of avuncular kinship terminology to a new context – that of diaspora relationships with homeland and host society. A recent tendency in kinship studies argues that kinship terminology can be employed flexibly to handle relationships of various kinds, and suggests that kinship terms should often be understood as referring to a kind of social relationship rather than to a specifically genealogical connection. Two cases, which I present in the paper, show how Buriad diaspora communities in Mongolia and Inner Mongolia (China) involve the avuncular relationship to define their concerns and tensions in relation both to colonisers in the homeland in Russia and to the social inequality of migrants in their host societies. This local phenomenon shows that kinship terminology continues to have a wider social significance, being used, for example, to express current inequalities of power and the impact of political changes on local experience.

Personal Recollections of Durkheim, Mauss, the Family and Others

The late Mrs Claudette Kennedy was a niece of Mauss and a great niece of Durkheim. On 1 September 1992, Bill Pickering (WP) and Nick Allen (NA) – of the then recently formed British Centre for Durkheimian Studies at the Institute of Social and Cultural Anthropology, Oxford University – met Claudette Kennedy (CK) in her house in Oxford and recorded a conversation with her. She had certain firm memories of Emile Durkheim, her great uncle, but more of Marcel Mauss. In all probability, she was the only person then alive with such memories, especially those of Durkheim. Pierre Mauss might have had recollections of Marcel Mauss but his memory was said to be failing.

Technical Notes and Tips: An Alternative Use of Foley Catheters in Ilizarov External Fixation

The recommended technique for preventing pin-site infection includes specially manufactured Ilizarov sponges and clips, retailing at £2.24 combined (Iliz sponge and disclip; Smith and Nephew Healthcare, Hull, UK). An alternative for the more scrupulous surgeon can take the form of a cut-up urinary catheter. The catheter is pierced as shown, providing ample pressure to keep the alcohol-soaked gauze against the skin (Fig. 1). A £6.63 catheter (Foley catheter; Bard Limited, West Sussex, UK) provides approximately 18 bungs at £0.37 each which, when combined with a piece of gauze at £0.03 each (NHS Logistics), equates to a saving of £1.84 per unit. Figure 1 Illustrating the use of a Foley catheter.

Captivating Eunice: Membership, Colonialism, and Gendered Citizenships of Grief

Captivating EuniceMembership, Colonialism, and Gendered Citizenships of Grief Audra Simpson (bio) My youngest Daughter, aged Seven years, was carryed all the journey, & look’d after with a great deal of Tenderness. —John Williams, 17071 Whither Eunice? The famous story of Eunice Williams’s captivity and incorporation begins with tears and ends with tears, as it was a Mohawk woman’s grief that prompted her capture as a replacement child for one lost. Her inconsolability motivated Mohawk warriors from Kahnawake to venture from the southwestern part of the St. Lawrence River down to Deerfield, Massachusetts, in February 1704—during the dead of winter—to take captives.2 Little is known of the specificity of the Mohawk woman’s unrest, or of the particulars of her life, as she is referred to only as “the mother.”3 Far more is known of Eunice Williams, the white child of completely unambiguous Protestant stock that would become her child. She was originally the daughter of the Reverend John Williams and Eunice Williams, and thus was the grand niece of famed Puritan minister Increase and cousin to Cotton Mather. In their commitment to piety, anti-popishness, proper puritan conduct, and [End Page 105] writing and sermonizing on the sinister condition of Indian captivity, the Mathers have been described as “the most prominent divines of their generation.”4 Williams’s life receives its acclaim in part because of these genealogies. But her life is most famous because her captivation became thoroughly consensual and she became Mohawk through time. She steadfastly refused to return to her natal territory and family. Owing to yawning gulfs in the archives, we do not know what this conversion tale looked like within Kahnawake, but it is clear from the literature that, although originally “English,” she became a unilingual, Catholic “white Indian” who was captivated by and fully assimilated into Mohawk society. In this article, I use the story of Eunice Williams’s captivity to argue that her incorporation into Mohawk society does not belong in the past; rather, it forms part of the gendered structure and imaginary of contemporary colonial settler society of North America. This gendered structure and imaginary is instantiated through The Indian Act of 1876, which defined and recognized indigeneity in Canada through a pre-citizened wardship status.5 This wardship status, which is now co-incident with state citizenship, continues to determine rights to material and semiotic resources for Indians in Canada, and shapes the identities and identifications of many Indigenous and non-Indigenous people in Canada today.6 This article offers a speculative history regarding the Act and the captivity narratives surrounding Williams’s life in order to point to the possibility of their relatedness but also to stimulate further, deeper work on the role of historical narrative in stimulating political and social possibility in colonial, or settler, contexts through time. The story of Eunice Williams, then, is more than a story of thrilling, dramatic, and violent eighteenth-century captivation. It is a story about the transformation of membership or incorporation into a rights-bearing unit of political status, with an attendant form of recognition—a recognition that was later conferred through The Indian Act. This is also a story of colonial alchemy, of recognition of political subject-formation, which moved race and gender to the forefront of deliberations over the meting out of those rights (only to efface them) and which was an evidentiary moment of deep identification that had occurred within Eunice Williams’s interior frontiers, within her mind. Her identifications and recognitions and the celebration of her story do not come without consequences, consequences that have not been considered in the literature on captivation. This is a literature that largely considers captivation to be a case of force, adoption, and/or kinning in an effort to re-historicize the past in deeply connected ways. These important contributions to literary and historical studies have significantly problemetized the notion of settler and Indigenous experiences as isolated from each other and [End Page 106] have given us a sense, especially in literary studies, of the importance of Indigenous “savagery” to the construction and maintenance of a “civilized” colonial self. However, in colonial “situations”—historical...

King Menelik's Nephew: Prince Thomas Mackarooroo, aka Prince Ludwig Menelek of Abyssinia

King Menelik's Nephew: Prince Thomas Mackarooroo, aka Prince Ludwig Menelek of Abyssinia

'My Dear Nephew': letters to a student priest

The following compilation of letters date from between 1845 and 1854; they form part of a larger collection of papers relating to Christina Gordon and her descendants, which are currently in the au...

Cenozoic basin evolution beneath the southern McMurdo Ice Shelf, Antarctica

Fifty-two kilometres of multi-channel seismic reflection data were acquired from the southern McMurdo Ice Shelf (SMIS) during potential drill site investigations for the Antarctic Drilling (ANDRILL) program. The survey was acquired atop 110 to 220 m of floating ice and extended across ablation and accumulation zones of the ice shelf. Seismic processing was tailored to the ice shelf environment, including: datum static corrections to account for changes in the thickness and average velocity of the near-surface firn layer, and changes in the surface elevation across the survey area; residual static corrections to account for near-surface ice shelf irregularities; and two-step predictive deconvolution to suppress ice and firn layer multiples. A model for the ice shelf thickness was also incorporated in the interval velocity model during depth conversion to ensure that the ice shelf structure did not impose non-static shifts on the seismic section. The depth converted CMP stacked sections reveal several N to NE trending normal faults, that offset reflective horizons by up to 150 m within the lower part of the section and form a broad east-dipping, half-graben structure. The seafloor possesses trough and arch morphology in parallel with the half-graben structure. These features are interpreted as the southern extension of the Terror Rift. The rift succession comprises a dislocated (?)early-Miocene synrift package and a relatively undeformed (?)late-Miocene post-rift package separated by an erosional unconformity. The post-rift package infills and onlaps the rift topography, and drapes over the graben system, reaching a maximum thickness of 400 m. Throughout the post-rift phase, the basin was also influenced by Neogene volcanism, evidenced by three small volcanic features within the seismic profiles, and associated successions of inferred volcanic material. An angular unconformity within the post-rift succession is interpreted as a flexural horizon related to the load of Mount Discovery and/or Mount Morning. Up to 150 m of flexural moat fill occurs above this surface at ~ 20 km from the load centres. The post-rift succession also includes several glacio-geomorphic features, the orientation and morphology of which indicate an approximately SW to NE ice flow direction during a mid-Miocene grounding event and a SE to NW ice flow direction during Quaternary ice sheet grounding events. The thickness and lower extent of the rift succession was not able to be determined because signal-to-noise ratio and vertical resolution were low at these depths. Strata from an earlier, Paleogene, rift episode may underlie the Terror Rift succession, or it may be directly underlain by acoustic basement. A Paleogene rift episode has previously been proposed based on the occurrence of Eocene fossiliferous erratics around the margin of the SMIS and the structural setting revealed by the SMIS seismic reflection profiles is consistent with this hypothesis.

An Algorithm for Use of Acticoat Dressing in Acute Burns and Exfoliative Diseases

Acticoat (Smith and Nephew) is a three-layer dressing, consisting of an inner rayon/polyester absorptive core between two layers of silver-coated, high-density polyethylene mesh. Silver is released as a nanocrystalline form when it is in a moist environment. It has a rapid and sustained bactericidal activity. Between May 2005 and March 2006, 26 patients were included in this study: 18 were patients with acute burn injuries, 8 were patients with exfoliative disease, such as Steven-Johnson Syndrome and Toxic epidermal necrolysis. The involved areas had a mean of 33.8% total body surface area. The areas which covered with Acticoat had a mean of 19.4% total body surface area. The mean duration of treatment was 10.1 days. The mean healing percentage of the wounds was 91% of the total treatment areas. The dressings in two cases needed to be replaced partially during treatment due to partial dislodgement. Only one patient had positive wound culture after the treatment. In this study, Acticoat demonstrated sustained bactericidal properties, long application time, and reducing trauma with pain during application. We also proposed an algorithm for using Acticoat dressings in acute burns and exfoliative diseases.

Parallel Nephews, Parallel Uncles

Parallel Nephews, Parallel Uncles

New Book Notes

NEW BOOK NOTES George Brosi Jacqueline Grisby Burnside. Berea and Madison County. Mount Pleasant, South Carolina: Arcadia Publishing, 2007. 126 pages with photos. Trade paperback. $19.99. Nobody is better qualified to contribute the book on Berea for the Black America Series ofArcadia Publishing than Jacqueline Grisby Burnside. Her Ph.D. dissertation at Yale concerned the interracial heritage of Berea, and she has been deeply involved in the Historic Black Berea Project, which has created a touring map with an audio tape and CD. She chairs the Sociology Department at her alma mater, Berea College. This book consists primarily ofphotographs with captions. Bob L. Cox. Fiddlin Charlie Bowman: An East Tennessee Old-Time Music Pioneer and His Musical Family. Knoxville: University of Tennessee Press, 2007. 224 pages, with an afterword by Archie Green and photos. Trade paperback. $24.95. Charlie Bowman (1889-1989) was not onlya talented musician but also a person who happened to live almost all ofhis one hundred years right at the cutting edge ofsignificant developments in the burgeoning musical genres called old-time and country and western swing. He grew up in Washington County, Tennessee, only a few miles from Bristol, the town that would become the epicenter of the evolution of old-time music into modern country music. This is a biography of Charlie Bowman, the story of his large family, the tale of a mountain community as well as the saga of an American region and its music. The author is the great nephew of the subject of the biography and a chemical engineer who is retired from Eastman in Kingsport. Adda Leah Davis. Luanda's Mountain. Charleston, West Virginia: Mountain State Press, 2007. 315 pages with an introduction byJerry Beasley. Trade paperback. $14.95. 114 Set in West Virginia, this is a coming-of-age novel of Lucinda Harmon, who struggles with age-old conflicts between family traditions and individual aspirations. It is told by Adda Leah Davis, a voice as authentic and compelling as ever endeavored to tell a mountain story. A native of McDowell County, West Virginia, Davis now lives in Russell County, Virginia. She is a retired elementary teacher and counselor who is the author of six books. "Addie Davis's own wisdom and compassion inform her extraordinary novel. The struggles of the entire Appalachian Region are incorporated into Lucinda's moving and memorable personal story. This is the real thing. And Lucinda will steal your heart."—Lee Smith. Jimmy Carl Harris. Wounds ThatBind: Stories. Oak Ridge, Tennessee: Iris Press, 2007. 141 pages. Hardback with dust jacket. $26.00. This is a book ofsixteen short stories written byJimmy Carl Harris of Birmingham, Alabama. Harris enlisted in the Marines out of high school and rose to the rank of Sergeant Major. Upon retirement from the military, he earned a doctorate in literature at the University of Alabama and pursued a career as a professor at Southeastern Louisiana University. He is now also retired from academia and writes fiction full-time. "Jimmy Carl Harris writes with stunning tenderness about those that life has deemed out-of-bounds: old soldiers who have lost fingers but not hope; old women alone and misunderstood, living off memories and cigarettes. Wounds That Bind is a fierce, gut-wrenching collection, but always beneath the hard edges one senses Harris's deep love and understanding for the men and women that life has not always treated gently."—Mark Powell. Carolyn Jourdan. Heart in the Right Pkce: A Memoir. Chapel Hill, North Carolina: Algonquin Books ofChapel Hill, 2007. 297 pages. Hardback with dust jacket. $23.95. Already selected by three book clubs, this compelling book has touched the heart-strings of thousands. The author grew up in East Tennessee as the daughter of a family doctor and his receptionist wife, but chose education and migration from the area, landing in D.C. working for an influential U. S. Senator. Then her mother became ill, and she volunteered to fill-in for a few days back home—days that "5 turned into the year-plus time period memorably detailed on these pages. "This is a wonderful book I would've enjoyed it even if Carolyn wasn't a neighbor of...

Viral Load and Crimean-Congo Hemorrhagic Fever

Viral Load and Crimean-Congo Hemorrhagic Fever