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Sample records for chinese familial adenomatous

  1. Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.

    Science.gov (United States)

    Liu, Qi; Li, Xiaoxia; Li, Sen; Qu, Shengqiang; Wang, Yu; Tang, Qingzhu; Ma, Hongwei; Luo, Yang

    2016-08-01

    Familial adenomatous polyposis (FAP) is an autosomal dominant disorder characterized by the development of hundreds to thousands of colonic adenomas and an increased risk of colorectal cancer. Adenomatous polyposis coli (APC), encoding a large multidomain protein involved in antagonizing the Wnt signaling pathway, has been identified as the main causative gene responsible for FAP. In this study, we identified three novel mutations as well as two recurrent mutations in the APC in five Chinese FAP families by sequencing. Immunohistochemical analysis revealed that among these mutations, a nonsense mutation (c.2510C>G) and two small deletions (c.2016_2047del, c.3180_3184del) led to the truncation of the APC protein and the cytoplasmic and nuclear accumulation of β-catenin in the colorectal samples from affected individuals, respectively. Our study expands the database on mutations of APC and provides evidence to understand the function of APC in FAP.

  2. Familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen

    1989-01-01

    Familial adenomatous polyposis is an autosomal dominant disease that includes early development of up to thousands of colorectal adenomas and several extracolonic manifestations. All untreated patients will develop colorectal adenocarcinoma. The treatment of choice is colectomy and ileorectal ana...... a national or regional polyposis register. The recent detection of a specific gene for familial adenomatous polyposis is a long step forward, and several problems may be solved by increasing international cooperation....

  3. Attenuated Familial Adenomatous Polyposis

    Science.gov (United States)

    ... adenomatous polyposis coli. A mutation (alteration) in the APC gene gives a person an increased lifetime risk of developing multiple adenomatous colon polyps, colorectal cancer, and other cancers of the digestive tract. People ...

  4. Familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    Rozen Paul

    2009-10-01

    Full Text Available Abstract Familial adenomatous polyposis (FAP is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas, congenital hypertrophy of the retinal pigment epithelium (CHRPE, desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system. A less aggressive variant of FAP, attenuated FAP (AFAP, is characterized by fewer colorectal adenomatous polyps (usually 10 to 100, later age of adenoma appearance and a lower cancer risk. Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back are indicative of the Gardner variant of FAP. Classic FAP is inherited in an autosomal dominant manner and results from a germline mutation in the adenomatous polyposis (APC gene. Most patients (~70% have a family history of colorectal polyps and cancer. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition, MUTYH-associated polyposis (MAP, which is characterized by a slightly increased risk of developing CRC and polyps/adenomas in both the upper and lower gastrointestinal tract. Diagnosis is based on a

  5. Diagnosis of familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen

    1991-01-01

    Familial adenomatous polyposis (FAP) includes early development of up to thousands of colorectal adenomas and of colorectal adenocarcinoma in all untreated cases. Moreover, a variety of extracolonic manifestations are seen. Proctosigmoidoscopy is used for screening; when adenomas are found, the d...... preclinical diagnosis in the future. A centralized registration of FAP has resulted in an improved prognosis, and the establishment of international groups will contribute to increased research of this disease....

  6. Familial Adenomatous Polyposis

    Science.gov (United States)

    ... have a de novo (new) mutation in the APC gene. Most colorectal cancer is sporadic, meaning it occurs by chance, and ... a mutation in the APC gene. If an APC gene mutation is found, other family members may be ... tumor ...

  7. FAMILIAL ADENOMATOUS POLYPOSIS

    Institute of Scientific and Technical Information of China (English)

    XU Ning; DING Yan-qing; XU Li

    1999-01-01

    @@ Clinical History A 41-year-old female was admitted into Nan Fang Hospital for severe abdominal pain with bloody-mucoid stool for a month. The symptoms started a year ago without obvious causes and she did not have any systemic treatment.The patient felt fatigue and loss of weight for the last three months and increased frequency of bloody-mucoid discharge from 2-4 times/day to 10 times/day for the last month. Two weeks ago the patient had a proctoscope with biopsy in Pan Yu people's Hospital. The pathological diagnosis was rectal villous adenoma with focal malignant changes. Rectal examination in this hospital found a rectal mass, 4 cm from the anus, longitudinal growing and occupying a quarter of the circumference. Further colonofiberscope diagnosis was familial polyposis of colon.Family history showed that her father died of lung cancer,her mother died of colonic cancer and her brother and sister were healthy. A total colo-rectectomy with ileostomy was performed.

  8. Causes of death in familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Galle, T S; Juel, K; Bülow, S

    1999-01-01

    The prognosis in familial adenomatous polyposis (FAP) has improved over the past decades owing to a reduction in the prevalence of colorectal cancer, resulting from effective early screening. During the same period several polyposis registers have recorded an increasing number of deaths due...... to duodenal/periampullary cancer and desmoid tumours. The aim of this study was to examine the causes of death with special emphasis on duodenal/periampullary cancer....

  9. Familial adenomatous polyposis: from bedside to benchside.

    LENUS (Irish Health Repository)

    O'Sullivan, M J

    2012-02-03

    Familial adenomatous polyposis (FAP) is a dominantly inherited cancer-predisposition syndrome with an incidence of between 1:17,000 and 1:5,000. The condition has been causally linked to mutation of the adenomatous polyposis coli (APC) gene located at 5q21. Virtually all mutations in the APC gene are truncating mutations, resulting in loss of function of the APC protein. Spontaneous germline mutation of this gene occurs frequently and accounts for the high incidence of FAP. The gene is somatically mutated at an early point in the colorectal adenoma-carcinoma progression. Somatic mutations of the APC gene are also frequently observed in a variety of other human carcinomas. Isolation of the APC gene has led to the recognition of genotype-phenotype correlations and, together with protein studies, has helped to elucidate the structure and function of the APC protein. This report aims to take the reader from a clinical appreciation to a molecular understanding of FAP.

  10. Attenuated familial adenomatous polyposis (AFAP). A review of the literature

    DEFF Research Database (Denmark)

    Knudsen, Anne Lyster; Bisgaard, Marie Luise; Bülow, Steffen

    2003-01-01

    Over the last decade, a subset of familial adenomatous polyposis (FAP) patients with a milder course of disease termed attenuated familial adenomatous polyposis (AFAP) has been described. AFAP is not well-defined as a disease entity - the reports on AFAP are largely casuistic or only deal...

  11. Attenuated familial adenomatous polyposis (AFAP). A review of the literature

    DEFF Research Database (Denmark)

    Knudsen, Anne Lyster; Bisgaard, Marie Luise; Bülow, Steffen

    2003-01-01

    Over the last decade, a subset of familial adenomatous polyposis (FAP) patients with a milder course of disease termed attenuated familial adenomatous polyposis (AFAP) has been described. AFAP is not well-defined as a disease entity - the reports on AFAP are largely casuistic or only deal with a ...

  12. Extra-Abdominal Desmoid Tumors Associated with Familial Adenomatous Polyposis

    Directory of Open Access Journals (Sweden)

    George T. Calvert

    2012-01-01

    Full Text Available Extra-abdominal desmoid tumors are a significant cause of morbidity in patients with familial adenomatous polyposis syndrome. Understanding of the basic biology and natural history of these tumors has increased substantially over the past decade. Accordingly, medical and surgical management of desmoid tumors has also evolved. This paper analyzes recent evidence pertaining to the epidemiology, molecular biology, histopathology, screening, and treatment of extra-abdominal desmoid tumors associated with familial adenomatous polyposis syndrome.

  13. Familial adenomatous polyposis associated APC gene mutation - A case study

    Directory of Open Access Journals (Sweden)

    Avinash Bardia1, Santosh K. Tiwari1, Sandeep K. Vishwakarma1, Md. Aejaz Habeeb1, Pratibha Nallari2, Aleem A. Khan1

    2013-08-01

    Full Text Available Familial adenomatous polyposis (FAP is an autosomal dominant condition characterized by diffuse intestinal polyposis, specific gene mutation, and predisposition for developing colon cancer. Left untreated, patients with FAP will develop colorectal carcinoma during early adulthood. Hence, early detection and surgical intervention are of the utmost importance. Colectomy is required and may include an ileal pouch with ileo-anal anastomosis, which eli-minates the colon and rectal disease while preserving fecal continence and avoidance of a permanent ileostomy. We report a case of colorectal cancer along with FAP showed features consistent with adenomatous polyposis coli and no evidence of malignancy was seen after the surgery.

  14. Desmoid tumour in familial adenomatous polyposis. A review of literature

    DEFF Research Database (Denmark)

    Knudsen, Anne Louise; Bülow, Steffen

    2001-01-01

    Desmoid tumours (DT) are rare benign tumours that do not metastasise, but tend to invade locally. DT are frequently seen in patients with familial adenomatous polyposis (FAP), and diagnosis and treatment are often difficult. Surgical trauma, genetic predisposition and hormonal factors are conside...

  15. The role of pediatricians in families with a history of familial adenomatous polyposis.

    Science.gov (United States)

    Augustyn, Ann Marie; Wallerstein, Robert

    2009-07-01

    Colon cancer is not an entity that pediatricians routinely confront; however, a family history of colon cancer can have pediatric implications when it is part of familial adenomatous polyposis syndrome. Colonic (multiple intestinal polyps) and extracolonic manifestations (such as hepatoblastoma or brain tumors) can be the presenting features in children. The authors present 2 patients from different families with familial adenomatous polyposis who presented with the extracolonic manifestation of this syndrome and a family history of colon cancer. Identification of these families and education of their primary care givers can lead to improved screening and management of these high-risk individuals.

  16. Surgical treatment of familial adenomatous polyposis: dilemmas and current recommendations.

    Science.gov (United States)

    Campos, Fábio Guilherme

    2014-11-28

    Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome characterized by multiple adenomatous polyps (predisposing to colorectal cancer development) and numerous extracolonic manifestations. The underlying genetic burden generates variable clinical features that may influence operative management. As a precancerous hereditary condition, the rationale of performing a prophylactic surgery is a mainstay of FAP management. The purpose of the present paper is to bring up many controversial aspects regarding surgical treatment for FAP, and to discuss the results and perspectives of the operative choices and approaches. Preferably, the decision-making process should not be limited to the conventional confrontation of pros and cons of ileorectal anastomosis or restorative proctocolectomy. A wide discussion with the patient may evaluate issues such as age, genotype, family history, sphincter function, the presence or risk of desmoid disease, potential complications of each procedure and chances of postoperative surveillance. Therefore, the definition of the best moment and the choice of appropriate procedure constitute an individual decision that must take into consideration patient's preferences and full information about the complex nature of the disease. All these facts reinforce the idea that FAP patients should be managed by experienced surgeons working in specialized centers to achieve the best immediate and long-term results.

  17. Quality of life and consequences for daily life of familial adenomatous polyposis (FAP) family members

    NARCIS (Netherlands)

    Douma, K.F.L.; Bleiker, E.M.A.; Vasen, H.F.A.; Gundy, C.M.; Aaronson, N.K.

    2011-01-01

    Aim  The study aimed to document the impact of familial adenomatous polyposis (FAP) on health-related quality of life (HRQOL) and several practical aspects of daily life and to identify factors associated significantly with HRQOL. This study is the first to compare HRQOL between FAP-patients, at-ris

  18. Quality of life and consequences for daily life of familial adenomatous polyposis (FAP) family members

    NARCIS (Netherlands)

    Douma, K.F.L.; Bleiker, E.M.A.; Vasen, H.F.A.; Gundy, C.M.; Aaronson, N.K.

    2011-01-01

    The study aimed to document the impact of familial adenomatous polyposis (FAP) on health-related quality of life (HRQOL) and several practical aspects of daily life, and to identify factors significantly associated with HRQOL. This study is the first to compare HRQOL between patients with FAP, at-ri

  19. Surveillance and management of upper gastrointestinal disease in Familial Adenomatous Polyposis

    DEFF Research Database (Denmark)

    Gallagher, Michelle C; Phillips, Robin K S; Bülow, Steffen

    2006-01-01

    Almost all patients affected by Familial Adenomatous polyposis (FAP) will develop foregut as well as hindgut polyps, and following prophylactic colectomy duodenal cancer constitutes one of the leading causes of death in screened populations. Without prophylactic colectomy, FAP patients predictabl...

  20. Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids

    NARCIS (Netherlands)

    E.C. Robanus-Maandag (Els); C.A.J. Bosch (Cathy); S. Amini-Nik (Saeid); J. Knijnenburg (Jeroen); K. Szuhai (Karoly); P. Cervera (Pascale); R. Poon (Raymond); D. Eccles (Diana); P. Radice (Paolo); M. Giovannini (Marcello); B.A. Alman (Benjamin A.); S. Tejpar (Sabine); P. Devilee (Peter); R. Fodde (Riccardo)

    2011-01-01

    textabstractDesmoid tumours (also called deep or aggressive fibromatoses) are potentially life-threatening fibromatous lesions. Hereditary desmoid tumours arise in individuals affected by either familial adenomatous polyposis (FAP) or hereditary desmoid disease (HDD) carrying germline mutations in A

  1. Open versus laparoscopic (assisted) ileo pouch anal anastomosis for ulcerative colitis and familial adenomatous polyposis

    NARCIS (Netherlands)

    Ali, Usama Ahmed; Keus, Frederik; Heikens, Joost T.; Bemelman, Willem A.; Berdah, Stephane V.; Gooszen, H. G.; van Laarhoven, Cees J. H. M.

    2009-01-01

    Background Restorative proctocolectomy with ileo pouch anal anastomosis (IPAA) is the main surgical treatment for patients with ulcerative colitis (UC) and familial adenomatous polyposis (FAP). With the advancements of minimal-invasive surgery this demanding operation is increasingly being performed

  2. Desmoids in familial adenomatous polyposis are monoclonal proliferations.

    Science.gov (United States)

    Middleton, S B; Frayling, I M; Phillips, R K

    2000-02-01

    Desmoids are poorly-understood, locally aggressive, non-metastasizing fibromatoses that occur with disproportionate frequency in patients with familial adenomatous polyposis (FAP). Their nature is controversial with arguments for and against a neoplastic origin. Neoplastic proliferations are by definition monoclonal, whereas reactive processes originate from a polyclonal background. We examined clonality of 25 samples of desmoid tissue from 11 female FAP patients by assessing patterns of X-chromosome inactivation to calculate a clonality ratio. Polymerase chain reaction (PCR) amplification of a polymorphic CAG short tandem repeat (STR) sequence adjacent to a methylation-sensitive restriction enzyme site within the human androgen receptor (HUMARA) gene using fluorescent-labelled primers enabled analysis of PCR products by Applied Biosystems Genescan II software. Twenty-one samples from nine patients were informative for the assay. Samples from all informative cases comprised a median of 66% (range 0-75%) clonal cells but from the six patients with a clonality ratio < or =0.5 comprised a median of 71% (65-75%) clonal cells. FAP-associated desmoid tumours are true neoplasms. This may have implications in the development of improved treatment protocols for patients with these aggressive tumours.

  3. Polipose adenomatosa familiar atenuada Attenuated familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    Gabriella Oliveira Fernandes

    2007-06-01

    Full Text Available A Polipose Adenomatosa Familiar Atenuada(PAFA é uma síndrome autossômica dominante, de diagnóstico tardio, comparando-se à forma clássica da polipose adenomatosa familiar. Dentre as características da síndrome estão: apresença de menos de 100 pólipos colorretais; b curso brando da doença, com idade tardia do diagnóstico e do aparecimento de câncer; cprevalência maior dos pólipos à direita do cólon; d reto poupado de lesões, na maioria dos casos. Analisar as características clínicas, tratamento e seguimento de 13 pacientes com diagnóstico de PAFA. Dos pacientes estudados, a média de idade ao diagnóstico foi 55 anos. Cinco pacientes apresentavam história familiar de polipose e/ou neoplasia. Nove (69% pacientes já tinham câncer no momento do diagnóstico. A maioria dos pacientes possuía pólipos localizados no cólon direito (31%. Do total, 06 pacientes foram submetidos à ressecção cirúrgica, com proctocolectomia ou colectomia. A média de seguimento dos pacientes foi de 26 meses. O controle foi realizado através de colonoscopias e retossigmoidoscopias, de acordo com o tratamento realizado. O diagnóstico de PAFA foi feito em idade tardia em relação à forma clássica da doença, com a maioria dos pólipos localizados no cólon direito. O controle endoscópico dos pacientes deve ser realizado com rigor. A colectomia com anastomose do íleo-reto é uma boa opção cirúrgica no tratamento dos pacientes, com baixa recidiva de pólipos no reto.Attenuated Familial Adenomatous Polyposis (AFAP is a heritable autosomally dominant syndrome, with later diagnosis than the classical condition of Familial Adenomatous Polyposis. Amid its main features there are : a the presence of less than 100 polyps; b the mild course of the disease and its later diagnosis and development of colon cancer; cthe polyps are more frequent in the right colon; dthe rectum may be relatively or even totally spared. To analyze the clinical

  4. Desmoid tumors in a dutch cohort of patients with familial adenomatous polyposis.

    NARCIS (Netherlands)

    Nieuwenhuis, M.H.; Cappel, W De Vos Tot Nede; Botma, A.; Nagengast, F.M.; Kleibeuker, J.H.; Mathus-Vliegen, E.M.H.; Dekker, E. den; Dees, J.; Wijnen, J.; Vasen, H.F.

    2008-01-01

    BACKGROUND & AIMS: Desmoid tumors are a severe extracolonic manifestation in familial adenomatous polyposis (FAP). Identification of risk factors might be helpful in the management of FAP patients with such tumors. The aim of this study was to assess potential risk factors for the development of des

  5. Desmoid tumors in a dutch cohort of patients with familial adenomatous polyposis

    NARCIS (Netherlands)

    Nieuwenhuis, M.H.; Vos to Nederveen Cappel, de W.; Botma, A.; Nagengast, F.M.; Kleibeuker, J.H.; Mathus-Vliegen, E.M.; Dekker, E.; Dees, J.; Wijnen, J.; Vasen, H.F.

    2008-01-01

    Background & Aims: Desmoid tumors are a severe extracolonic manifestation in familial adenomatous polyposis (FAP). Identification of risk factors might be helpful in the management of FAP patients with such tumors. The aim of this study was to assess potential risk factors for the development of

  6. Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis

    NARCIS (Netherlands)

    Douma, K.F.L.; Aaronson, N.K.; Vasen, H.F.A.; Verhoef, S.; Gundy, C.M.; Bleiker, E.M.A.

    2010-01-01

    Childhood DNA testing, prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are available for familial adenomatous polyposis (FAP). However, the use of PND and PGD is controversial. The purpose of this study was to investigate attitudes toward, and experiences with, childhood DNA tes

  7. Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

    DEFF Research Database (Denmark)

    Bisgaard, M L; Ripa, R; Knudsen, Anne Louise;

    2004-01-01

    BACKGROUND: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein compri...... they do not themselves more often represent an isolated case. CONCLUSIONS: The severe phenotype should be considered when counselling FAP families in which attenuated FAP is excluded and in which a causative APC mutation has not been identified.......BACKGROUND: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein...... in patients with a known APC mutation and with the phenotypes characteristic of patients with mutations in specific APC regions and domains. PATIENTS: Data on 121 FAP probands and 149 call up patients from 70 different families were extracted from the Danish Polyposis register. METHODS: Differences in 16...

  8. Gastrointestinal Polyposis Syndromes : Clinical and molecular aspects of Familial Adenomatous Polyposis and Juvenile Polyposis

    NARCIS (Netherlands)

    Brosens, L.A.A.

    2008-01-01

    Colorectal cancer (CRC) is an important cause death. In the Netherlands, approximately 10.000 patients are diagnosed with CRC each year. Rare hereditary gastrointestinal polyposis syndromes predisposing to CRC, including familial adenomatous polyposis (FAP), juvenile polyposis (JPS) and Peutz-Jegher

  9. Chromosomal and methylation alterations in sporadic and familial adenomatous polyposis-related duodenal carcinomas.

    NARCIS (Netherlands)

    Berkhout, M.; Nagtegaal, I.D.; Cornelissen, S.J.B.; Dekkers, M.M.G.; Molengraft, F.J. van de; Peters, W.H.M.; Nagengast, F.M.; Krieken, J.H.J.M. van; Jeuken, J.W.M.

    2007-01-01

    Primary carcinomas of the small intestine are rare and the mechanism of their pathogenesis is poorly understood. Patients with familial adenomatous polyposis (FAP) have a high risk of developing duodenal carcinomas. The aim of this study is to gain more insight into the development of duodenal carci

  10. Genotype-phenotype correlations as a guide in the management of familial adenomatous polyposis

    NARCIS (Netherlands)

    Nieuwenhuis, Mary H.; Mathus-Vliegen, Lisbeth M.; Slors, Frederik J.; Griffioen, Gerrit; Nagengast, Fokko M.; Schouten, Wim R.; Kleibeuker, Jan H.; Vasen, Hans F. A.

    2007-01-01

    Background & Aims: The options for prevention of colorectal cancer in familial adenomatous polyposis are either a colectomy with ileorectal anastomosis (IRA) or a total proctocolectomy with ileal pouch-anal anastomosis (IPAA). Rectal cancer risk is eliminated by IPAA, but complication rate is higher

  11. Genotype-phenotype correlations as a guide in the management of familial adenomatous polyposis.

    NARCIS (Netherlands)

    Nieuwenhuis, M.H.; Mathus-Vliegen, L.M.; Slors, F.J.; Griffioen, G.; Nagengast, F.M.; Schouten, W.R.; Kleibeuker, J.H.; Vasen, H.F.

    2007-01-01

    BACKGROUND & AIMS: The options for prevention of colorectal cancer in familial adenomatous polyposis are either a colectomy with ileorectal anastomosis (IRA) or a total proctocolectomy with ileal pouch-anal anastomosis (IPAA). Rectal cancer risk is eliminated by IPAA, but complication rate is higher

  12. Mucosectomy and stapled pouch-anal anastomosis in familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, S

    2012-01-01

    In familial adenomatous polyposis, a restorative proctocolectomy with an ileo-anal pouch may be performed either with a mucosectomy and a hand-sewn anastomosis or as a stapled anastomosis without a mucosectomy. The disadvantage of the former is suboptimal bowel function and the disadvantage...

  13. Sulfate-reducing bacteria colonize pouches formed for ulcerative colitis but not for familial adenomatous polyposis.

    LENUS (Irish Health Repository)

    Duffy, M

    2012-02-03

    PURPOSE: Ileal pouch-anal anastomosis remains the "gold standard" in surgical treatment of ulcerative colitis and familial adenomatous polyposis. Pouchitis occurs mainly in patients with a background of ulcerative colitis, although the reasons for this are unknown. The aim of this study was to characterize differences in pouch bacterial populations between ulcerative colitis and familial adenomatous pouches. METHODS: After ethical approval was obtained, fresh stool samples were collected from patients with ulcerative colitis pouches (n = 10), familial adenomatous polyposis (n = 7) pouches, and ulcerative colitis ileostomies (n = 8). Quantitative measurements of aerobic and anaerobic bacteria were performed. RESULTS: Sulfate-reducing bacteria were isolated from 80 percent (n = 8) of ulcerative colitis pouches. Sulfate-reducing bacteria were absent from familial adenomatous polyposis pouches and also from ulcerative colitis ileostomy effluent. Pouch Lactobacilli, Bifidobacterium, Bacteroides sp, and Clostridium perfringens counts were increased relative to ileostomy counts in patients with ulcerative colitis. Total pouch enterococci and coliform counts were also increased relative to ileostomy levels. There were no significant quantitative or qualitative differences between pouch types when these bacteria were evaluated. CONCLUSIONS: Sulfate-reducing bacteria are exclusive to patients with a background of ulcerative colitis. Not all ulcerative colitis pouches harbor sulfate-reducing bacteria because two ulcerative colitis pouches in this study were free of the latter. They are not present in familial adenomatous polyposis pouches or in ileostomy effluent collected from patients with ulcerative colitis. Total bacterial counts increase in ulcerative colitis pouches after stoma closure. Levels of Lactobacilli, Bifidobacterium, Bacteroides sp, Clostridium perfringens, enterococci, and coliforms were similar in both pouch groups. Because sulfate-reducing bacteria are

  14. Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

    DEFF Research Database (Denmark)

    Bisgaard, M L; Ripa, R; Knudsen, Anne Louise;

    2004-01-01

    BACKGROUND: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein...... comprises several regions and domains for interaction with other proteins, and specific clinical manifestations are associated with the mutation assignment to one of these regions or domains. AIMS: The phenotype in patients without an identified causative APC mutation was compared with the phenotype...... in patients with a known APC mutation and with the phenotypes characteristic of patients with mutations in specific APC regions and domains. PATIENTS: Data on 121 FAP probands and 149 call up patients from 70 different families were extracted from the Danish Polyposis register. METHODS: Differences in 16...

  15. Sulphomucin expression in ileal pouches: emerging differences between ulcerative colitis and familial adenomatous polyposis pouches.

    LENUS (Irish Health Repository)

    Bambury, Niamh

    2012-02-03

    PURPOSE: We characterized the expression of sialomucin and sulphomucin in pouches fashioned for familial adenomatous polyposis and ulcerative colitis. We correlated sulphomucin expression with bacterial colonization and mucosal inflammation. METHODS: Ethical approval and informed consent were obtained. Mucosal biopsies from 9 patients with familial adenomatous polyposis and 12 with ulcerative colitis were obtained. Sulphomucin levels were assessed by using the high iron-diamine stain. Mucous gel layer composition was correlated with villous height, crypt depth, and total mucosal thickness. Mucous gel layer composition was correlated with acute and chronic inflammatory infiltrates. Colonization by a panel of seven bacterial species (including sulphate reducing bacteria) was established and correlated with sulphomucin levels. RESULTS: High-iron-diamine positivity (i.e., sulphomucin expression) was greater in ulcerative colitis pouch mucous gel (2.083 +\\/- 0.5 vs. 0.556 +\\/- 0.4, P = 0.003). Sulphomucin expression correlated with reduced crypt depth, villous height, and total mucosal thickness. In the ulcerative colitis group, chronic inflammatory infiltrate scores were significantly greater for high-iron-diamine-positive patients. Colonization by sulphate reducing bacteria was increased in high-iron-diamine-positive patients. CONCLUSIONS: Sulphomucin expression is increased in the mucous gel layer of the ulcerative colitis pouch compared with that of the familial adenomatous polyposis pouch. Sulphomucin expression is associated with colonization by sulphate-reducing bacteria and increased chronic inflammation.

  16. The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management

    Directory of Open Access Journals (Sweden)

    Leoz ML

    2015-04-01

    Full Text Available Maria Liz Leoz, Sabela Carballal, Leticia Moreira, Teresa Ocaña, Francesc Balaguer Department of Gastroenterology, Hospital Clínic, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBERehd, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS, Barcelona, Catalonia, Spain Abstract: Familial adenomatous polyposis (FAP is an inherited disorder that represents the most common gastrointestinal polyposis syndrome. Germline mutations in the APC gene were initially identified as responsible for FAP, and later, several studies have also implicated the MUTYH gene as responsible for this disease, usually referred to as MUTYH-associated polyposis (MAP. FAP and MAP are characterized by the early onset of multiple adenomatous colorectal polyps, a high lifetime risk of colorectal cancer (CRC, and in some patients the development of extracolonic manifestations. The goal of colorectal management in these patients is to prevent CRC mortality through endoscopic and surgical approaches. Individuals with FAP and their relatives should receive appropriate genetic counseling and join surveillance programs when indicated. This review is focused on the description of the main clinical and genetic aspects of FAP associated with germline APC mutations and MAP. Keywords: colorectal cancer, familial adenomatous polyposis, MAP, APC, MUTYH

  17. Familial adenomatous polyposis with synchronous invasive colonic carcinomas and metastatic jejunal adenocarcinoma in a Nigerian male

    Directory of Open Access Journals (Sweden)

    Emeka Blessius Kesieme

    2010-12-01

    Full Text Available Familial adenomatous polyposis is rare. Three cases were previously reported in Nigeria. An intriguing feature of this case is an ulcerated jejunal carcinoma which was metastatic rather than synchronous carcinoma. This patient presented with partial large bowel obstruction and the pathological analysis revealed 4 invasive adenocarcinomas, 3 in the colon and 1 in the jejunum (Dukes stage D. Palliative pancolectomy and jejunal tumour resection with chemotherapy was offered to him. He died eight months after surgery from disease progression. The challenges of managing a hereditary cancer syndrome in a resource poor country are highlighted.

  18. Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients

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    Danielidis Ioannis

    2005-04-01

    Full Text Available Abstract Background Familial Adenomatous Polyposis (FAP is caused by germline mutations in the APC (Adenomatous Polyposis Coli gene. The vast majority of APC mutations are point mutations or small insertions / deletions which lead to truncated protein products. Splicing mutations or gross genomic rearrangements are less common inactivating events of the APC gene. Methods In the current study genomic DNA or RNA from ten unrelated FAP suspected patients was examined for germline mutations in the APC gene. Family history and phenotype were used in order to select the patients. Methods used for testing were dHPLC (denaturing High Performance Liquid Chromatography, sequencing, MLPA (Multiplex Ligation – dependent Probe Amplification, Karyotyping, FISH (Fluorescence In Situ Hybridization and RT-PCR (Reverse Transcription – Polymerase Chain Reaction. Results A 250 Kbp deletion in the APC gene starting from intron 5 and extending beyond exon 15 was identified in one patient. A substitution of the +5 conserved nucleotide at the splice donor site of intron 9 in the APC gene was shown to produce frameshift and inefficient exon skipping in a second patient. Four frameshift mutations (1577insT, 1973delAG, 3180delAAAA, 3212delA and a nonsense mutation (C1690T were identified in the rest of the patients. Conclusion Screening for APC mutations in FAP patients should include testing for splicing defects and gross genomic alterations.

  19. Clinical outcomes of gastric polyps and neoplasms in patients with familial adenomatous polyposis

    Science.gov (United States)

    Nakamura, Keiko; Nonaka, Satoru; Nakajima, Takeshi; Yachida, Tatsuo; Abe, Seiichiro; Sakamoto, Taku; Suzuki, Haruhisa; Yoshinaga, Shigetaka; Oda, Ichiro; Matsuda, Takahisa; Sekine, Shigeki; Kanemitsu, Yukihide; Katai, Hitoshi; Saito, Yutaka; Hirota, Seiichi

    2017-01-01

    Background and study aims Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene, characterized by the presence of more than 100 adenomatous polyps in the colorectum. The upper gastrointestinal tract is an extracolonic site for malignancy in patients with FAP. The frequency of death in Japanese patients with FAP because of gastric cancer is 2.8 % and that because of colon cancer is 60.6 %. Few studies have reported upper gastrointestinal diseases in patients with FAP. In the present study, we investigated the clinical outcomes of patients with FAP diagnosed with gastric neoplasms. Patients and methods We enrolled 80 patients with FAP who underwent esophagogastroduodenoscopy from October 1997 to December 2011. We investigated patient characteristics, endoscopic findings of gastric lesions, treatment outcomes, and long-term courses. Results Fundic gland polyposis was observed in 51 patients (64 %) and gastric neoplasms in 22 patients (28 %), including 20 with non-invasive and 2 with invasive neoplasm. Of the 26 neoplasms, 11 were treated by endoscopic resection (ER) and 4 by surgical resection. Metachronous gastric neoplasms were observed in 7 patients (15 lesions) and treated by ER, except for in 1 patient. No patients died of gastric lesions during a median follow-up period of 6.5 years (range, 0 – 14). Conclusion Because gastric lesions including gastric cancers in patients with FAP did not cause any deaths, they can be considered to have favorable prognoses. Early detection of gastric neoplasms through an appropriate follow-up interval may have contributed to these good outcomes. PMID:28271094

  20. A Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction

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    Manoochehr Karjoo

    2017-01-01

    Full Text Available Familial adenomatous polyposis (FAP is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also been well described in association with various syndromic extra-gastrointestinal manifestations. Less commonly, patients with FAP present with varying degrees of cognitive dysfunction and developmental delay, though the reason for the association is unclear. Herein, we report the case of a male patient born with an interstitial deletion of chromosome 5q, 46,XY, del(5 (q14q23, presenting with familial adenomatous polyposis (FAP, profound developmental delay, cognitive dysfunction, and multiple congenital anomalies including talipes equinovarus, agenesis of the corpus callosum, and dysmorphic facial features.

  1. The advances of familial adenomatous polyposis%家族性腺瘤性息肉病研究进展

    Institute of Scientific and Technical Information of China (English)

    张敏; 兰风华

    2014-01-01

    家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)以结直肠内生长成百上千枚息肉为主要特征,不进行治疗的患者几乎100%发展成大肠癌,主要由腺瘤性息肉病基因(adenomatous polyposis coli,APC)突变所致,越来越多学者发现APC基因突变位点和FAP临床表现具有一定相关性.本文将从FAP的分型、临床表现、诊断标准、致病基因APC、基因-表型相关性及治疗监测等方面作一综述.%Familial adenomatous polyposis (FAP) is a common hereditary syndrome that is characterized by the numerous adenomatous polyps in the colon and rectum,and almost all patients will develop colorectal cancer without treatment.It is mainly caused by a germline mutation of adenomatous polyposis coli (APC) gene,and more and more studies have attempted to correlate the location of the mutations on APC gene with clinical phenotypes.The aim of this review is to summarize the current clinical and genetic knowledge of FAP and the genotype-phenotype correlations.

  2. A nation-wide study comparing sporadic and familial adenomatous polyposis-related desmoid-type fibromatoses

    NARCIS (Netherlands)

    M.H. Nieuwenhuis; M. Casparie; L.M.H. Mathus-Vliegen; O.M. Dekkers; P.C.W. Hogendoorn; H.F.A. Vasen

    2011-01-01

    Desmoid-type fibromatoses are neoplasms of fibroblastic origin, occurring sporadically or associated with familial adenomatous polyposis (FAP) coli. By comparing sporadic and FAP-associated desmoid-type fibromatoses, we tried to identify clinical characteristics, which may indicate FAP. Histopatholo

  3. Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis : a multicentre, randomized controlled trial

    NARCIS (Netherlands)

    van Heumen, Bjorn W. H.; Roelofs, Hennie M. J.; Vink-Borger, M. Elisa; Dekker, Evelien; Mathus-Vliegen, Elisabeth M. H.; Dees, Jan; Koornstra, Jan J.; Langers, Alexandra M. J.; Nagtegaal, Iris D.; Kampman, Ellen; Peters, Wilbert H. M.; Nagengast, Fokko M.

    2013-01-01

    Background: Due to prophylactic colectomy, mortality in patients with familial adenomatous polyposis (FAP) has changed, with duodenal cancer currently being the main cause of death. Although celecoxib reduces duodenal polyp density in patients with FAP, its long-term use may increase the risk of car

  4. Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis: a multicentre, randomized controlled trial

    NARCIS (Netherlands)

    Heumen, van B.W.; Roelofs, H.M.J.; Vink-Börger, M.E.; Dekker, E.; Mathus-Vliegen, E.M.; Dees, J.; Koornstra, J.J.; Langers, A.M.; Nagtegaal, I.D.; Kampman, E.; Peters, W.H.; Nagengast, F.M.

    2013-01-01

    Background Due to prophylactic colectomy, mortality in patients with familial adenomatous polyposis (FAP) has changed, with duodenal cancer currently being the main cause of death. Although celecoxib reduces duodenal polyp density in patients with FAP, its long-term use may increase the risk of card

  5. Pancreas-preserving total duodenectomy versus standard pancreatoduodenectomy for patients with familial adenomatous polyposis and polyps in the duodenum.

    NARCIS (Netherlands)

    Castro, SM de; Eijck, CH van; Rutten, J.P.; Dejong, C.H.; Goor, H. van; Busch, O.R.; Gouma, D.J.

    2008-01-01

    BACKGROUND: Pancreas-preserving total duodenectomy (PPTD) was introduced as a replacement for pancreatoduodenectomy (PD) for familial adenomatous polyposis (FAP). This study analysed the results of PPTD in the Netherlands and reviewed the relevant literature. METHODS: All 26 patients who underwent P

  6. Familial Adenomatous Polyposis (FAP):Genotype Correlation to FAP Phenotype With Osteomas and Sebaceous Cysts

    DEFF Research Database (Denmark)

    Bisgaard, Marie Luise; Bülow, Steffen

    2006-01-01

    and familial adenomatous polyposis (FAP). The present study aimed at examining whether a particular APC genotype could be delineated in FAP patients with benign extracolonic manifestations: sebaceous cysts and/or osteomas. A questionnaire was sent to all Danish FAP patients (N = 234) asking for occurrence...... of sebaceous cysts and palpable osteomas. Medical records later verified positive findings, when possible. The results for each patient were correlated to the position of his or her mutation in the APC gene. Positive participation compliance was 77% (N = 180), and in 105 of these patients the pathogenic APC...... mutation was known. Palpable osteomas were reported in 17 of the patients in whom a pathogenic mutation had been identified. Osteomas were only identified in patients with mutations between codon 767 and 1513, a gene area also associated with congenital hypertrophy of the retinal-pigmented epithelium...

  7. Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts

    DEFF Research Database (Denmark)

    Bisgaard, Marie Luise; Bülow, Steffen

    2006-01-01

    and familial adenomatous polyposis (FAP). The present study aimed at examining whether a particular APC genotype could be delineated in FAP patients with benign extracolonic manifestations: sebaceous cysts and/or osteomas. A questionnaire was sent to all Danish FAP patients (N = 234) asking for occurrence...... of sebaceous cysts and palpable osteomas. Medical records later verified positive findings, when possible. The results for each patient were correlated to the position of his or her mutation in the APC gene. Positive participation compliance was 77% (N = 180), and in 105 of these patients the pathogenic APC...... mutation was known. Palpable osteomas were reported in 17 of the patients in whom a pathogenic mutation had been identified. Osteomas were only identified in patients with mutations between codon 767 and 1513, a gene area also associated with congenital hypertrophy of the retinal-pigmented epithelium...

  8. Attenuated Familial Adenomatous Polyposis (AFAP) Results from an international collaborative study

    DEFF Research Database (Denmark)

    Knudsen, A L; Bülow, S; Tomlinson, I

    2010-01-01

    Abstract Aim. The study aimed to describe genetical and clinical features of Attenuated Familial Adenomatous Polyposis (AFAP) and to propose clinical criteria and guidelines for treatment and surveillance. Method. A questionnaire study was carried out of polyposis registries with data on patients...... patients had a colectomy and an ileorectal anastomosis (IRA) and 5/82 (6%) had a secondary proctectomy. The location of the mutation in the APC gene was known in 69/171 (40%) tested patients. Only 15/29 (52%) of mutations in APC were found in parts of the gene usually associated with AFAP (the 5' end, exon...... 9 and 3' end). Conclusions. A subset of FAP patients with a milder phenotype does exist and treatment and surveillance should be modified accordingly. The mutation detection rate is lower than in classic FAP and mutations in AFAP patients are located throughout the APC gene. We propose the following...

  9. Pouch Salvage Surgery for Treatment of Colitis and Familial Adenomatous Polyposis: Report of Five Cases

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    Derakhshani

    2016-08-01

    Full Text Available Introduction The restorative proctocolectomy (RPC with ileal pouch-anal anastomosis (IPAA is currently the preferred surgical method for most patients with ulcerative colitis and familial adenomatous polyposis and sometimes, functional bowel diseases. Infection around the pouch, remaining rectal stump, stricture at anastomosis site, pouch dysfunction and refractory pouchitis can lead to pouch failure. Pouch salvage surgery could prevent pouch failure in some cases. Case Presentation In this report, five patients were introduced, who underwent pouch salvage surgery after RPC/IPAA surgery failure. Two of the patients were male and three were female and the relevant age range was 16 to 41. Initially, RPC/IPAA surgery was performed on these five patients. Four of the patients underwent RPC/IPAA surgery as a result of ulcerative colitis and, one of the patients as a result of familial adenomatous polyposis. However, due to pouch failure from the RPC/IPAA surgery, pouch-salvage surgery was performed on each of these five patients. Two of the patients underwent pouch-salvage surgery due to infection and pouch fistula, and the other three underwent this surgery due to the remaining rectal stump, anastomosis stenosis and pouch dysfunction. The average time for when pouch-salvage surgery was performed was 3.5 years (three months to five years after the initial operation and the patients were under follow-up care for two to seven years. Conclusions After performing pouch salvage operation, pouch function was acceptable in all patients and we could close ileostomies of all of them.

  10. Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients

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    Friedl Waltraut

    2005-09-01

    Full Text Available Abstract The autosomal-dominant precancerous condition familial adenomatous polyposis (FAP is caused by germline mutations in the tumour suppressor gene APC. Consistent correlations between the site of mutations in the gene and clinical phenotype have been published for different patient groups. We report our experiences of APC mutation analysis and genotype-phenotype correlations in 1166 unrelated polyposis families and discuss our results in the light of literature data. We show that the mutation detection rates largely depend on the family history and clinical course of the disease. We present a list of 315 different point mutations and 37 large deletions detected in 634 of the 1166 index patients. Our results confirm previously published genotype-phenotype correlations with respect to the colorectal phenotype and extracolonic manifestations. However, 'exceptions to the rule' are also observed, and possible explanations for this are discussed. The discovery of autosomal-recessive MUTYH-associated polyposis (MAP as a differential diagnosis to FAP implies that some results have to be reinterpreted and surveillance guidelines in the families have to be reevaluated.

  11. Detection of APC gene germline mutation in Chinese familial adenomatous polyposis by direct sequencing in combination with multiplex ligation-dependent probe amplification%直接测序联合多重连接依赖探针扩增法检测家族性腺瘤性息肉病APC基因胚系突变

    Institute of Scientific and Technical Information of China (English)

    金鹏; 崔伟佳; 盛剑秋; 付蕾; 安贺娟; 李爱琴; 张明智; 韩英; 李世荣

    2010-01-01

    目的 研究中国家族性腺瘤性息肉病(FAP)患者APC基因胚系突变的特点.方法 对来自北京、河北、河南、安徽、内蒙古、山西、福建等地区的14个FAP家系先证者用直接测序法进行APC基因突变检测,对突变检测阴性者应用多重连接依赖探针扩增(MLPA)技术进行APE基因大片段缺失检测.结果 14例先证者中9例(64.3%)检测出APC基因微小突变,其中移码突变6例,剪接区突变2例,无义突变1例;2例(14.3%)检测出APC基因大片段缺失,微小突变与大片段缺失的总检出率为78.6%.c.2336-2337insT、c.3923-3929delAAGAAAA、c.532-2A>T和c.4179-4180GAdelinsT等4个微小突变和外显子11、10A缺失、外显子15 start缺失等2个大片段缺失为首次报道.结论 中国FAP患者APC基因的胚系突变类型多样,以移码突变居多,突变位点以第15外显子居多;直接测序法联合MLPA法检测大片段缺失可提高APC基因突变的检出率.%Objective To investigate the characteristics of APC gene germline mutation in Chinese patients with familial adenomatous polyposis ( FAP). Methods The genomic DNA was extracted from peripheral venous blood drawn from probands of 14 Chinese FAP families from Beijing, Hebei, Henan,Anhui, Inner Mongolia, Shanxi and Fujian. The APC gene was amplified by PCR and underwent direct sequencing. Large fragment deletion was detected by multiplex ligation-dependent probe amplification (MLPA) only in micromutation-negative samples found by sequencing. Results APC gene micromutations were found in 9 probands and the mieromutation detection rate was 64. 3%, including 6 frameshift mutations, 2 splicing mutations and 1 nonsense mutation. Large fragment deletions of APC gene were detected in 2 probands ( 14. 3% ). The total mutation detection rate of micromutation and large fragment deletion was 78. 6%. Four novel micmromutations and 2 novel large fragment deletions were found, including c. 2336-2337insT, c. 3923-3929delAAGAAAA, c

  12. Two Metachronous Neoplasms in the Radiotherapy Fields of a Young Man With Familial Adenomatous Polyposis

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    Patrick A. Williams BS

    2013-04-01

    Full Text Available Background: It is recognized that various radiation-induced malignancies often follow childhood radiotherapy. Radiation-induced neoplasms have been shown to occur with increased frequency in syndromes due to mutated tumor suppressor genes. There exist no recommendations for the management of cancer patients with germline APC gene mutations. Preclinical data suggest that APC gene mutations cause enhanced radiosensitivity, but no clinical observations exist that show that patients with this mutation are at higher risk for radiation-induced malignancies. Results: We report the case of a 32-year-old man with a genetic diagnosis of familial adenomatous polyposis (FAP who initially presented at age 10 with a medulloblastoma treated with radiotherapy and surgery. Radiation-induced papillary thyroid carcinoma followed 13 years later. Finally, radiation-induced soft tissue osteosarcoma occurred with widespread metastasis 20 years thereafter. Conclusions: This is the first report of 2 malignancies in the prior radiotherapy fields of a patient with a genetic diagnosis of FAP. More important, this suggests that APC-defective cells are at an enhanced sensitivity to the carcinogenic effects of radiotherapy compared with APC-proficient cells. This could argue for genetic screening in affected members of these families and for creation of treatment recommendations to more seriously consider the risks of radiation therapy.

  13. Desmoid Tumor Associated With Familial Adenomatous Polyposis: Evaluation With 64-Detector CT Enterography

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    Oktay Algin

    2012-03-01

    Full Text Available Desmoid tumors (DTs are benign tumors which are not seen very often, and most of the radiologists and clinicians do not know the characteristics of them very well. Correct and early diagnosis of DTs is important for decreasing mortality and morbidity. Computed tomography enterography (CTE is a new modality for small bowel imaging which combines the improved spatial and temporal resolution of multidetector computed tomography (CT with large volumes of ingested enteric contrast material to permit evaluation of the small bowel wall and lumen and also the entire abdomen. We report a familial adenomatous polyposis (FAP patient with localized mesentery and abdominal wall DTs. We showed the exact location of the DTs and their relation with the small bowel by CTE. In conclusion, CTE is a useful technique for DT localization, the degree of extension and invasion to local structures, presence of partial and complete small bowel obstruction, and the relationship of the tumors with vasculature and whether ischemia ha s occurred as a result or not.

  14. Gene Expression Profiling in Familial Adenomatous Polyposis Adenomas and Desmoid Disease

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    Bowden Nikola A

    2007-06-01

    Full Text Available Abstract Gene expression profiling is a powerful method by which alterations in gene expression can be interrogated in a single experiment. The disease familial adenomatous polyposis (FAP is associated with germline mutations in the APC gene, which result in aberrant β-catenin control. The molecular mechanisms underlying colorectal cancer development in FAP are being characterised but limited information is available about other symptoms that occur in this disorder. Although extremely rare in the general population, desmoid tumours in approximately 10% of FAP patients. The aim of this study was to determine the similarities and differences in gene expression profiles in adenomas and compare them to those observed in desmoid tumours. Illumina whole genome gene expression BeadChips were used to measure gene expression in FAP adenomas and desmoid tumours. Similarities between gene expression profiles and mechanisms important in regulating formation of FAP adenomas and desmoid tumours were identified. This study furthers our understanding of the mechanisms underlying FAP and desmoid tumour formation.

  15. Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families

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    Meuller Johan

    2008-04-01

    Full Text Available Abstract Background The dominantly inherited condition familial adenomatous polyposis (FAP is caused by germline mutations in the APC gene. Finding the causative mutations has great implications for the families. Correlating the genotypes to the phenotypes could help to improve the diagnosis and follow-up of patients. Methods Mutation screening of APC and the clinical characterization of 96 unrelated FAP patients from the Swedish Polyposis Registry was performed. In addition to generally used mutation screening methods, analyses of splicing-affecting mutations and investigations of the presence of low-frequency mutation alleles, indicating mosaics, have been performed, as well as quantitative real-time polymerase chain reaction to detect lowered expression of APC. Results Sixty-one different APC mutations in 81 of the 96 families were identified and 27 of those are novel. We have previously shown that 6 of the 96 patients carried biallelic MUTYH mutations. The 9 mutation-negative cases all display an attenuated or atypical phenotype. Probands with a genotype (codon 1250–1464 predicting a severe phenotype had a median age at diagnosis of 21.8 (range, 11–49 years compared with 34.4 (range, 14–57 years among those with mutations outside this region (P 1000 occurred in 75% of the probands with a severe phenotype compared with 30% in those with mutations outside this region. The morbidity in colorectal cancer among probands was 25% at a mean age of 37.5 years and 29% at a mean age of 46.6 years. Conclusion Using a variety of mutation-detection techniques, we have achieved a 100% detection frequency in classical FAP. Probands with APC mutations outside codon 1250–1464, although exhibiting a less-severe phenotype, are at high risk of having a colorectal cancer at diagnosis indicating that age at diagnosis is as important as the severity of the disease for colorectal cancer morbidity.

  16. APC gene mutations in individuals with possible attenuated familial adenomatous polyposis coli

    Energy Technology Data Exchange (ETDEWEB)

    Frayling, J.M.; Talbot, J.; Harocopos, C.A. [Imperial Cancer Research Fund Colorectal Cancer Unit, London (United Kingdom)] [and others

    1994-09-01

    Spirio et al. have described an attenuated form of familial adenomatous polyposis (FAP) termed AAPC, where affected individuals have been found to have mutations in exons 3 & 4 of the APC gene. AAPC expression within a family appears to be extremely variable and can overlap clinically with FAP, giving rise to between zero and a few hundred adenomas. The phenotypic range associated with AAPC mutations is undefined and the frequency in the population of such alleles of the APC gene is unknown. In addition, it is as yet unclear how many cases of sporadic colorectal adenomas might have AAPC. In order to address this we have identified 110 individuals having a phenotype compatible with a diagnosis of AAPC, in three groups: (1) 30 individuals (15m, 15f; median age = 55y, range 8-71y) with some or all of the following: colonic adenomas (28 cases); colorectal cancer (12 cases); extra-colonic features of FAP, either desmoid tumours (4 cases, including 2 without colonic adenomas) or sebaceous cysts (2 cases). Sixteen cases had a family history of adenomas/colorectal cancer/extra-colonic features of FAP. (2) 16 individuals (10m, 6f) from the St. Mark`s Polyposis Registry, diagnosed with FAP (including a family history), who had unusually few adenomas (median = 200) at colectomy (median age = 43y, range 17-62y). (3) 64 individuals (43m, 21f) from the St. Mark`s Hospital Adenoma Follow-up Study who either had >4 adenomas at presentation (median total adenomas = 9), or >4 adenomas detected during follow-up (median total adenomas = 9). Genomic DNA was obtained from these individuals and exons 1-4 of the APC gene were amplified by PCR. Chemical cleavage of mismatch was used to screen for mutations, followed by sequencing if variant bands were found. Germ-line mutations have been identified in exons 3 and 4 in a proportion of these individuals, thus extending the clinical spectrum of phenotypes associated with mutations in this region of the APC gene.

  17. Management strategies in Lynch syndrome and familial adenomatous polyposis: a national healthcare survey in Japan.

    Science.gov (United States)

    Yamano, Tomoki; Hamanaka, Michiko; Babaya, Akihito; Kimura, Kei; Kobayashi, Masayoshi; Fukumoto, Miki; Tsukamoto, Kiyoshi; Noda, Masafumi; Matsubara, Nagahide; Tomita, Naohiro; Sugihara, Kenichi

    2017-02-01

    Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are major sources of hereditary colorectal cancer (CRC) and are associated with other malignancies. There is some heterogeneity in management strategies in Japan. We undertook a survey of management of hereditary CRC in hospitals that are members of the Japan Society of Colorectal Cancer Research. One hundred and ninety departments responded, of which 127 were from designated cancer care hospitals (DCCHs) according to the Japanese government. There were 25 488 operations for CRC in these departments in 2015. The DCCHs performed better with regard to usage of Japan Society of Colorectal Cancer Research guidelines, referring new CRC patients for LS screening, and having in-house genetic counselors and knowledge of treatment for LS. There were 174 patients diagnosed with LS and 602 undergoing follow-up in 2011-2015, which is fewer than the number expected from CRC operations in 2015. These numbers were not affected by whether the institution was a DCCH. Universal screening for LS was carried out in 8% of the departments. In contrast, 541 patients were diagnosed with FAP and 273 received preventive proctocolectomy/colectomy in 2011-2015. The DCCH departments undertook more surgery than non-DCCH departments, although most of the management, including surgical procedures and use of non-steroidal anti-inflammatory drugs, was similar. Management of desmoid tumor in the abdominal cavity differed according to the number of patients treated. In conclusion, there was heterogeneity in management of LS but not FAP. Most patients with LS may be overlooked and universal screening for LS is not common in Japan.

  18. Defensin expression in chronic pouchitis in patients with ulcerative colitis or familial adenomatous polyposis coli

    Institute of Scientific and Technical Information of China (English)

    Karlheinz Kiehne; Gabriele Brunke; Franziska Wegner; Tomas Banasiewicz; Ulrich R F(o)lsch; Karl-Heinz Herzig

    2006-01-01

    AIM:Pouchitis develops in ileoanal pouches in up to 50% of patients with ulcerative colitis during the first 10years after pouch surgery while being rare in patients after proctocolectomy for familial adenomatous polyposis coii (FAP) syndrome. Defensins are major components of the innate immune system and play a significant role in gastrointestinal microbial homeostasis. Pouch defensin and cytokine expression were correlated with states of pouch inflammation to study their role in pouchitis.METHODS:Patients with ulcerative colitis and FAP syndrome were stratified into groups with pouches after surgery, pouches without or with pouchitis. Biopsies from terminal ileum from a healthy intestine or from normal terminal ileum of patients with ulcerative colitis served as controls, mRNA from pouches and controls was analysed for defensin and cytokine expression.RESULTS: Expression of defensins was increased in all pouches immediately after surgery, compared to ileum of controls. Initially, pouches in ulcerative colitis revealed higher defensin expression than FAP pouches. Defensin expression declined in both patient groups and increased again slightly in pouchitis in patients with ulcerative colitis. FAP pouches without pouchitis had strong expression of β-defensin hBD-1, while all other defensins remained at low levels. Cytokine expression in ulcerative colitis pouches was high, while FAP pouches showed moderately elevated cytokines only after surgery.CONCLUSION: Development of pouchitis correlates with decreased defensin expression in ulcerative colitis in addition to high expression of cytokines. The low incidence of pouchitis in FAP pouches correlates with increased expression of hBD-1 β- defensin in association with low cytokine levels.

  19. Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

    Energy Technology Data Exchange (ETDEWEB)

    Stella, A.; Resta, N.; Susca, F.; Guanti, G.; Gentile, M. (Universita di Bari (Italy)); Mareni, C.; Montera, P. (Universita di Genova (Italy))

    1993-11-01

    Familial adenomatous polyposis (FAP) is a premalignant disease inherited as an autosomal dominant trait, characterized by hundreds to thousands of polyps in the colorectal tract. Recently, the syndrome has been shown to be caused by mutations in the APC (adenomatous polyposis coli) gene located on chromosome 5q21. The authors studied two families that both presented a phenotype different from that of the classical form of FAP. The most important findings observed in these two kindreds are (a) low and variable number of colonic polyps (from 5 to 100) and (b) a slower evolution of the disease, with colon cancer occurring at a more advanced age than in FAP in spite of the early onset of intestinal manifestations. To determine whether mutations of the APC gene are also responsible for this variant syndrome, linkage studies were performed by using a series of markers both intragenic and tightly linked to the APC gene. The results provide evidence for exclusion of the APC gene as the cause of the variant form of polyposis present in the two families described. 30 refs., 1 fig., 1 tab.

  20. Diffusion tensor imaging (DTI) of desmoid tumours in familial adenomatous polyposis: Initial experience

    Energy Technology Data Exchange (ETDEWEB)

    Bhandari, Santosh, E-mail: s.bhandari10@imperial.ac.uk [Polyposis Registry, St. Mark' s Hospital, Watford Road, Harrow, Middlesex HA1 3UJ (United Kingdom); Sinha, Ashish, E-mail: asinha@imperial.ac.uk [Polyposis Registry, St. Mark' s Hospital, Watford Road, Harrow, Middlesex HA1 3UJ (United Kingdom); Tam, Emily, E-mail: Emily.wy.tam@gmail.com [Paul Strickland Scanner Centre, Mount Vernon Hospital, Northwood, Middlesex HA6 2RN (United Kingdom); Stirling, J. James, E-mail: james.stirling@stricklandscanner.org.uk [Paul Strickland Scanner Centre, Mount Vernon Hospital, Northwood, Middlesex HA6 2RN (United Kingdom); Simcock, Ian, E-mail: ian.simcock@stricklandscanner.org.uk [Paul Strickland Scanner Centre, Mount Vernon Hospital, Northwood, Middlesex HA6 2RN (United Kingdom); Clark, Sue, E-mail: s.clark8@nhs.net [Polyposis Registry, St. Mark' s Hospital, Watford Road, Harrow, Middlesex HA1 3UJ (United Kingdom); Goh, Vicky, E-mail: Vicky.goh@kcl.ac.uk [Division of Imaging Sciences and Biomedical Engineering, King' s College London, Imaging 2, Level 1, Lambeth Wing, St. Thomas' Hospital, Lambeth Palace Road, London, SE1 7EH (United Kingdom)

    2012-11-15

    Purpose: To assess the feasibility of diffusion tensor imaging (DTI) of desmoid tumours in familial adenomatous polyposis (FAP). Materials and methods: Following ethical approval and informed consent, FAP patients with desmoids underwent DTI. Fractional anisotropy (FA), relative anisotropy (RA) and apparent diffusion coefficient (ADC) were compared to control muscle using Mann-Whitney test; and to tumour site and signal intensity using one way analysis of variance (ANOVA). Imaging was repeated after 1 year. Results: 15 desmoids (6 intra-abdominal; 6 abdominal wall, 3 extra-abdominal; size range: 1.6-22.9 cm) were evaluated in 9 patients. DTI was successful in 12/15 desmoid tumours. Median (range) of RA, FA and ADC were 0.23 Multiplication-Sign 10{sup -3} mm{sup 2}/s (0.17-0.26); 0.27 Multiplication-Sign 10{sup -3} mm{sup 2}/s (0.21-0.31); and 1.65 Multiplication-Sign 10{sup -3} mm{sup 2}/s (1.39-1.91) for desmoids, significantly different from muscle: 0.27 Multiplication-Sign 10{sup -3} mm{sup 2}/s (0.23-0.40), 0.32 Multiplication-Sign 10{sup -3} mm{sup 2}/s (0.28-0.46), and 1.45 Multiplication-Sign 10{sup -3} mm{sup 2}/s (0.92-1.63) (p = 0.0001, p = 0.0001, p = 0.0016, respectively). There was no difference in RA, FA or ADC between tumour sites, or signal intensity (p > 0.05). One year later, 2 patients had died. Tumour increased in size in 1 patient (+61%). DTI quantification was possible in only 8/13 tumours. FA, RA and ADC were not significantly different from baseline (p = 0.77, 0.71 and 0.34, respectively). Conclusions: Assessment of water diffusion has the potential to provide insight into tumour microstructure and is feasible in desmoids. Desmoid tumours demonstrate anisotropy but diffusion is less restricted and less directional than in muscle.

  1. Ability of FDG-PET to detect all cancers in patients with familial adenomatous polyposis, and impact on clinical management

    Energy Technology Data Exchange (ETDEWEB)

    Kouwen, Mariette C.A. van; Drenth, Joost P.H.; Friederich, Pieter; Nagengast, Fokko M. [Radboud University Nijmegen Medical Centre, Department of Gastroenterology and Hepatology, 9101, Nijmegen (Netherlands); Krieken, J. Han J.M. van [Radboud University Nijmegen Medical Centre, Department of Pathology, Nijmegen (Netherlands); Goor, Harry van [Radboud University Nijmegen Medical Centre, Department of Surgery, Nijmegen (Netherlands); Oyen, Wim J.G. [Radboud University Nijmegen Medical Centre, Department of Nuclear Medicine, Nijmegen (Netherlands)

    2006-03-15

    Familial adenomatous polyposis (FAP) is characterised by colonic and duodenal adenomatous polyps that carry a risk of malignant transformation. Malignant degeneration of duodenal adenomas is difficult to detect. We speculated that 2-({sup 18}F)-fluoro-2-deoxy-d-glucose positron emission tomography (FDG-PET) might be able to detect early duodenal cancer in FAP. Accordingly, we investigated the role of FDG-PET in the management of FAP patients. FDG-PET was performed in 24 FAP patients. Eight had advanced duodenal adenomas (Spigelman IV), including two patients with duodenal cancer. Scans were defined as positive on the basis of focal FDG accumulation. Pathological FDG accumulation was absent in 19 of 24 patients. All six patients with Spigelman IV duodenal adenomas (without cancer) were negative; two of these underwent a duodenectomy and pathological examination did not reveal duodenal cancer. In five patients, FDG-PET revealed significant uptake, in the duodenum (2), lower abdomen (1), lung (1) and multiple sites in the abdomen (1). These hot spots correlated with duodenal cancer (2), abdominal metastasis (1) and sclerosing haemangioma of the lung (1). We failed to make a histopathological diagnosis in the single patient with multiple intra-abdominal sites of FDG uptake. None of the patients from the FDG-PET-negative group developed cancer during follow-up (mean 2.8 years). (orig.)

  2. Effects of intervention with sulindac and inulin/VSL#3 on mucosal and luminal factors in the pouch of patients with familial adenomatous polyposis

    NARCIS (Netherlands)

    Friederich, P.; Verschuur, J.; Heumen, B.W. van; Schaap-Roelofs, H.M.J.; Berkhout, M.; Nagtegaal, I.D.; Oijen, M.G.H. van; Krieken, J.H. van; Peters, W.H.M.; Nagengast, F.M.

    2011-01-01

    BACKGROUND/AIM: In order to define future chemoprevention strategies for adenomas or carcinomas in the pouch of patients with familial adenomatous polyposis (FAP), a 4-weeks intervention with (1) sulindac, (2) inulin/VSL#3, and (3) sulindac/inulin/VSL#3 was performed on 17 patients with FAP in a sin

  3. Clinical characteristics and outcomes in familial adenomatous polyposis patients with a long-term treatment of celecoxib: a matched cohort study

    DEFF Research Database (Denmark)

    Huang, Kui; Gutierrez, Lia P; Bülow, Steffen

    2011-01-01

    Familial adenomatous polyposis (FAP) is a rare genetic disease. Without treatment, FAP patients have a 100% lifetime risk of developing colorectal cancer. This study was conducted to evaluate the effect of celecoxib treatment in prolonging the time to FAP-related events and to document the safety...

  4. A CA-repeat polymorphism close to the adenomatous polyposis coli (APC) gene offers improved diagnostic testing for familial APC

    Energy Technology Data Exchange (ETDEWEB)

    Spirio, L.; Nelson, L.; Ward, K.; Burt, R.; White, R.; Leppert, M. (Univ. of Utah, Salt Lake City (United States))

    1993-02-01

    Presymptomatic genetic testing for the presence of a mutant allele causing familial adenomatous polyposis coli (APC) has been difficult to perform effectively in the past because DNA markers surrounding the APC gene on chromosome 5q have not been very informative. The authors report results of genetic linkage studies on both research families and clinical families by using D5S346, a highly polymorphic dinucleotide (CA)-repeat locus 30-70 kb from the APC gene. Linkage analysis with this marker in a large APC pedigree showed an increase of at least 9.0 LOD units, in likelihood of linkage of the disease-causing allele to the APC locus, when compared with the highest LOD score attained with any other closely linked marker. When the first 14 APC families that requested genotypic analysis by the DNA Diagnostic Laboratory at the University of Utah were tested with D5S346, 20 of the 31 at-risk individuals were identified as either carriers or noncarriers of an APC-predisposing allele. The authors see this marker as an important tool for research studies and for the presymptomatic diagnosis of APC. 28 refs., 3 figs., 2 tabs.

  5. 应用变性高效液相色谱检测31例家族性腺瘤性息肉病家系结肠腺瘤性息肉病基因突变%Detection of adenomatous polyposis coli gene mutations in 31 familial adenomatous polyposis families by using denaturing high performance liquid chromatography

    Institute of Scientific and Technical Information of China (English)

    蔡善荣; 张苏展; 郑树

    2008-01-01

    目的 应用变性高效液相色谱(denaturing high performance liquid chromatography,DHPLC)技术检测我国家族性腺瘤性息肉病(familial adenomatons polyposis,FAP)家系的结肠腺瘤性息肉病(adenoinatous pelyposis coli,APC)基因变异特征,研究其病因机制.方法 采集31个家系的先证者、患者和家系成员的外周血淋巴细胞,抽提DNA并以降落式PCR扩增APC基因各外显子和启动子.基因突变检测先由DHPLC进行筛选,发现异常峰者进行测序鉴定并TA克隆鉴定,结果与网络数据进行比对.结果 31个家系中共有15个家系检出了12种不同的突变类型,FAP家系APC基因的突变检出率为48.39%.发现了4种新的突变及3例不同的内含子突变.4个新的突变分别位于255、677、1192、1403密码子,均为移码突变.证明了DHPLC能检出APC基因的突变.在APC基因的突变中,移码突变占86.67%,无义突变占13.33%,说明移码突变是中国人APC基因突变的主要方式.在突变位点上,第15外显子突变最常见,约占86.67%.结论 FAP家系APC基因的突变检出率为48.39%,发现了4种新的导致蛋白编码改变的突变.证实中国人FAP家系中APC基因突变位点以第15外显子最常见,类型以移码突变为主.%Objective To analyze the adenomatous polyposis coli (APC)gene mutations in familial adenomatous polyposis(FAP)in Chinese.Methods DNA was extracted from blood samples taken from 31 FAP families ,and all formance liquid chromatography followed by sequencing if abnormal profile Was detected.Results Twelve categories ofAPC gene mutations were found in 15 FAP families(48.39%)including 4 novel mutations in coding region and 3 mutations in introns.The 4 novel mutations in coding region were frameshift mutations and located in codons 255,677,1192 and 1403 respectively.Most mutations were clustered in exon 15 of APC gene leading to frameshift and accounted for 86.67%.Others were nonsense mutatiom(13.33%).Conclusion The mutation rate

  6. Can supplementation of phytoestrogens/insoluble fibers help the management of duodenal polyps in familial adenomatous polyposis?

    Science.gov (United States)

    Calabrese, Carlo; Rizzello, Fernando; Gionchetti, Paolo; Calafiore, Andrea; Pagano, Nico; De Fazio, Luigia; Valerii, Maria Chiara; Cavazza, Elena; Strillacci, Antonio; Comelli, Maria Cristina; Poggioli, Gilberto; Campieri, Massimo; Spisni, Enzo

    2016-06-01

    Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disorder, and prophylactic colectomy has been shown to decrease the incidence of colorectal cancer (CRC). Duodenal cancer and desmoids are now the leading causes of death in FAP. We evaluate whether 3 months of oral supplementation with a patented blend of phytoestrogens and indigestible insoluble fibers (ADI) help the management of FAP patients with ileal pouch-anal anastomosis (IPAA). In a prospective open label study, we enrolled 15 FAP patients with IPAA and duodenal polyps who underwent upper gastrointestinal endoscopy at baseline and after 3 months of treatment. The primary endpoint was the change in gene expression in polyp mucosa, whereas the secondary endpoint was the reduction in polyp number and size. After 3 months of ADI treatment, all patients showed a reduction in the number and size of duodenal polyps (P = 0.021). Analysis of the expression of CRC promoting/inhibiting genes in duodenal polyps biopsies demonstrated that different CRC-promoting genes (PCNA, MUC1 and COX-2) were significantly downregulated, whereas CRC-inhibiting genes (ER-β and MUC2) were significantly upregulated after ADI treatment. In conclusion, ADI proved to be safe and effective, and its long-term effects on FAP patients need further investigation. Judging from the results we observed on COX-2 and miR-101 expression, the short-term effects of ADI treatment could be comparable with those obtained using COX-2 inhibitors, with the advantage of being much more tolerable in chronic therapies and void of adverse events.

  7. A nation-wide study comparing sporadic and familial adenomatous polyposis-related desmoid-type fibromatoses.

    Science.gov (United States)

    Nieuwenhuis, Marry H; Casparie, Mariel; Mathus-Vliegen, Lisbeth M H; Dekkers, Olaf M; Hogendoorn, Pancras C W; Vasen, Hans F A

    2011-07-01

    Desmoid-type fibromatoses are neoplasms of fibroblastic origin, occurring sporadically or associated with familial adenomatous polyposis (FAP) coli. By comparing sporadic and FAP-associated desmoid-type fibromatoses, we tried to identify clinical characteristics, which may indicate FAP. Histopathology data of all Dutch patients with desmoid-type fibromatoses diagnosed between 1999 and 2009 were retrieved from PALGA, the nation-wide network and registry of histopathology in the Netherlands. For calculation of incidence rates, person-years from the general matched population were used. Based on polyp counts in pathological records, the cohort was divided into a FAP group and a non-FAP group. Patient- and tumor characteristics were compared between the two groups. A total number of 519 patients older than 10 years with a confirmed diagnosis of desmoid-type fibromatoses were included. Thirty-nine (7.5%) desmoid patients were documented of having FAP. The incidences of sporadic and FAP-related desmoid-type fibromatoses were 3.42 and 2,784 per million person-years, respectively. The majority of FAP patients developed desmoid-type fibromatoses after the diagnosis of FAP. Having FAP was associated with male gender [odds ratio (OR) 2.0, p = 0.034], desmoid diagnosis at an earlier age (mean 36 vs. 42 years, p = 0.031), and desmoid localization intra-abdominally (OR 18.9, p ≤ 0.001) or in the abdominal wall (OR 4.8, p ≤ 0.001), compared to extra-abdominal desmoid localization. In conclusion, patients with desmoid-type fibromatoses are at risk of underlying FAP. Especially cases with desmoid localization intra-abdominal or in the abdominal wall, and all patients younger than 60 years, have a substantial increased risk and should be referred for colonoscopy.

  8. Restorative proctocolectomy or rectum-preserving surgery in patients with familial adenomatous polyposis: results of a prospective study.

    Science.gov (United States)

    Tonelli, F; Valanzano, R; Monaci, I; Mazzoni, P; Anastasi, A; Ficari, F

    1997-01-01

    Surgical treatment of familial adenomatous polyposis (FAP) is still controversial. From 1984 we carried out a prospective evaluation of total colectomy with ileorectal anastomosis (IRA) and restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) to determine differences in postoperative complications, functional results, occurrence of desmoids, and recurrence of polyps in the rectal stump. IRA was performed below the peritoneal reflection and was indicated in the absence of rectal cancer and in the presence of fewer than 10 polyps or minute polyposis in the last 10 cm of the rectal mucosa. IRA patients underwent a regular endoscopic follow-up and prolonged sulindac administration (100 mg twice daily). When criteria for IRA were absent, IPAA was performed adopting a manual anastomosis at the pectinate line. Fourteen patients were operated with IRA and 24 with IPAA. There was no difference in sex and age between the two groups of patients. The number of rectal polyps was significantly different in the two groups. Immediate postoperative complications were observed in only five IPAA patients, three of whom (12%) required reoperation. Late postoperative complications occurred more frequently in IRA patients (14%) than in IPAA patients (4%). Desmoids developed in both groups (five in the IRA group and four in IPAA group). The number of bowel movements was similar in both groups, but 25% of IPAA patients complained of nocturnal fecal soiling. Fulguration or polypectomy for recurrent polyps was necessary in all but two IRA patients at follow-up. The rectal stump was easily eradicated by polyps in all but four patients with minute polyps at surgery. In the latter patients a diffuse or carpeting rectal polyposis occurred. IPAA can give optimum control of colorectal polyposis in FAP patients with an acceptable incidence of postoperative complications and satisfactory functional results. This type of surgical procedure is indicated in most FAP patients, and IRA

  9. Proctocolectomy and ileal J-pouch anal anastomosis on the surgical treatment of familial adenomatous polyposis and ulcerative colitis: analysis of 49 cases

    Directory of Open Access Journals (Sweden)

    Bruno Amaral Medeiros

    2012-09-01

    Full Text Available OBJECTIVE: To evaluate the results of ileal J-pouch anal anastomosis in ulcerative colitis and familial adenomatous polyposis. METHOD: Retrospective analysis of medical records of 49 patients submitted to ileal J-pouch anal anastomosis. RESULTS: Ulcerative colitis was diagnosed in 65% and familial adenomatous polyposis in 34%. Mean age was 39.5 years. 43% were male. Among familial adenomatous polyposis, 61% were diagnosed with colorectal cancer. Thirty-one percent of patients with ulcerative colitis was submitted to a previous surgical approach and 21% of these had toxic megacolon. Average hospital stay was 10 days. Post-operative complications occurred in 50% of patients with ulcerative colitis and 29.4% with familial adenomatous polyposis. Intestinal diversion was performed in 100% of ulcerative colitis and 88% of familial adenomatous polyposis. Pouchitis occurred in eight cases (seven ulcerative colitis and one FAP, requiring excision of the pouch in three ulcerative colitis. Mortality rate was 7.6%: two cases of carcinoma on the pouch and two post-operative complications. Late post-operative complications occurred in 22.4%: six familial adenomatous polyposis and five ulcerative colitis. Two patients had erectile dysfunction, and one retrograde ejaculation. One patient with severe perineal dermatitis was submitted to excision of the pouch. Incontinence occurred in four patients and two reported soil. Mean bowel movement was five times a day. CONCLUSION: Ileal J-pouch anal anastomosis is a safe surgery with acceptable morbidity and good functional results, if well indicated and performed in referral centers.OBJETIVO: Avaliar resultados da anastomose íleo-anal com bolsa ileal em J na colite ulcerativa e na polipose adenomatosa familiar. MÉTODO: Análise retrospectiva dos prontuários de 49 pacientes submetidos a anastomose íleo-anal com bolsa ileal em J. RESULTADOS: 65% de colite ulcerativa e 34% de polipose adenomatosa familiar. Idade m

  10. Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Rohlin, A; Engwall, Y; Fritzell, K

    2011-01-01

    Familial adenomatous polyposis (FAP) is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Two promoters, 1A and 1B, have been recognized in APC, and 1B is thought to have a minor role in the regulation of the gene. We have identified a novel deletion encompassing half of ...... homozygous inactivation of APC allowing for alternative genetic models as basis for adenoma formation.Oncogene advance online publication, 6 June 2011; doi:10.1038/onc.2011.201....... of this promoter in the largest family (Family 1) of the Swedish Polyposis Registry. The mutation leads to an imbalance in allele-specific expression of APC, and transcription from promoter 1B was highly impaired in both normal colorectal mucosa and blood from mutation carriers. To establish the significance...... of promoter 1B in normal colorectal mucosa (from controls), expression levels of specific transcripts from each of the promoters, 1A and 1B, were examined, and the expression from 1B was significantly higher compared with 1A. Significant amounts of transcripts generated from promoter 1B were also determined...

  11. Chinese Family Culture in the Ascendant

    Institute of Scientific and Technical Information of China (English)

    1995-01-01

    IN the mid 1980s, Chinese family culture started in Shanghai. Now, more than ten years later, it has spread to cities and the countryside all over China The rise of Chinese family culture cannot be separated from the improved economic development. Reform and opening to the outside world greatly increased the living standard of Chinese families. Many people are in pursuit of

  12. Familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen

    1989-01-01

    anastomosis, but restorative proctocolectomy may be considered in selected cases. Polyposis patients treated with ileorectal anastomosis should be followed for life, with regular proctosigmoidoscopy and destruction of new adenomas. Furthermore, regular gastroduodenoscopy should be carried out because...

  13. Differences between Chinese and Western Family Education

    Institute of Scientific and Technical Information of China (English)

    严文利

    2015-01-01

    Family education is elementary and important for children.Because of different culture,China and other western countries have different family education.This paper mainly analyzes these differences in three aspects:values of family education,ways of family education and influences of family education.In the end,it provides some suggestions for improving Chinese family education.

  14. [A Case of Familial Adenomatous Polyposis with a Desmoid Tumor Probably Communicating to the Intestinal Lumen That Was Successfully Treated with Non-Surgical Therapy].

    Science.gov (United States)

    Ito, Tetsuya; Chika, Noriyasu; Yamamoto, Azusa; Ogura, Toshiro; Amano, Kunihiko; Ishiguro, Toru; Fukuchi, Minoru; Kumagai, Youichi; Ishibashi, Keiichiro; Eguchi, Hidetaka; Okazaki, Yasushi; Mochiki, Erito; Ishida, Hideyuki

    2016-11-01

    A 44-year-old man with familial adenomatous polyposis underwent laparoscopic-assistedtotal proctocolectomy with ilealpouch anal anastomosis(IPAA). Computed tomography conducted 21 months after IPAA demonstrated bilateral hydronephrosis andan intra-abdominal mass with a maximal diameter of 22 cm, leading to a diagnosis of stage IV desmoid disease, according to the classification by Church and associates. Six courses of combination chemotherapy with doxorubicin plus dacarbazine were administered. Computed tomography after chemotherapy demonstrated marked shrinkage of the desmoidtumor with intraabdominal air andfluidcollection extending just below the skin of the ileostomy closure site. Stoollike fluidoverflowedspontaneously through the site of the ileostomy closure andthe abscess cavity was successfully drained. The patient was discharged 30 days after the start of drainage. The patient is doing well 10 months after the drainage without regrowth of the desmoid tumor, even though a cavity-like lesion encapsulatedby a thick wall remains.

  15. 5个家族性腺瘤样息肉病家系APC基因突变研究%Analysis of APC mutation in five kindreds of familial adenomatous polyposis

    Institute of Scientific and Technical Information of China (English)

    珠珠; 黄鉴; 董坚; 洪敏; 田晰晰; 杨军; 陈明清

    2012-01-01

    目的 探讨结肠腺瘤病(adenomatous polyposis coli,APC)基因在5个云南省家族性腺瘤样息肉病(Familial adenomatous polyposis,FAP)家系的突变情况.方法 对昆明医科大学第一附属医院住院病例进行统计,查找FAP家系,绘制家系图谱.抽取该家系成员外周静脉血提取DNA,利用PCR方法扩增APC基因,应用DNA自动测序仪进行测序.结果 5个家系(2个白族家系,2个彝族家系,1个汉族家系)中,只有汉族家系查出APC基因1196S>SX(1196号氨基酸由丝氨酸变为了终止密码子)的突变.其余家系均未查出APC基因的无义突变.结论 通过对5个FAP家系进行APC基因测序,发现云南省少数民族家系APC基因的突变率不高,APC基因突变存在民族差异.%Objective To investigate the APC mutation in five kindreds of familial adenomatous polyposis (4 minority nationalities and 1 han nationality) for early diagnosis and provide the basis for family. Methods 1411 pathologically confirmed colorectal cancer patients were collected and screened for familial adenomatous polyposis. The mutations of APC gene in the FAP families were detected. Results One of the FAP families was found APC gene mutation (1196S >SX). All people in the family carried this mutation. Conclusion There is one Han family found mutation of APC.

  16. Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72

    Directory of Open Access Journals (Sweden)

    Johannsson Oskar

    2008-11-01

    Full Text Available Abstract Background Familial adenomatous polyposis (FAP is typically characterized by multiple colonic polyps and frequent extracolonic features. Whereas the number of colonic polyps has been linked to the APC gene mutation, possible genotype-phenotype correlations largely remain to be defined for the extracolonic manifestations. Methods Full genomic sequencing combined with multiplex ligation-dependent probe amplification was used to identify APC gene mutations, which were correlated to the clinical presentations. Results 10 novel APC gene mutations were identified in 11 families. A broad spectrum of extracolonic manifestations was identified in most of these individuals. Two sisters with an insertion in codon 528 (c.1582_1583insGC both showed severe phenotypes with classical polyposis, upper gastrointestinal polyps and thyroid cancer. A woman with a 3'APC mutation (c.5030_5031insAA developed colon cancer at age 72 as the first manifestation of attenuated FAP. Conclusion With an increasing number of FAP families diagnosed, a broad and variable tumor spectrum and a high frequency of extracolonic manifestations are gradually recognized. We report novel APC mutations and present two FAP cases that suggest familial aggregation of thyroid cancer and demonstrate the need to consider attenuated FAP also among elderly patients with colon cancer.

  17. Association of the DNMT3B polymorphism with colorectal adenomatous polyps and adenocarcinoma.

    Science.gov (United States)

    Guo, Xiaoqing; Zhang, Liwei; Wu, Mingli; Wang, Na; Liu, Yanfeng; Er, Limian; Wang, Shunping; Gao, Yang; Yu, Weifang; Xue, Hui; Xu, Zhibin; Wang, Shijie

    2010-01-01

    DNMT3B is an important enzyme to modulate the methylation status in mammalian cells. The aim of this study is to investigate the correlation of the DNMT3B G39179T polymorphism with the susceptibilities of colorectal adenomatous polyps and adenocarcinoma. This case-control study included 146 colorectal adenomatous polyps, 170 colorectal adenocarcinoma patients, and 157 normal controls. DNMT3B polymorphism was analyzed by polymerase chain reaction-restriction fragment length polymorphism analysis. Family history of colorectal cancer significantly increases the risk of developing colorectal adenomatous polyps and adenocarcinoma. The genotype frequency of DNMT3B polymorphism (T/T and G/T + G/G) in adenocarcinoma patients was significantly different from that in controls (P value = 0.01). Compared with DNMT3B T/T genotype, the G allelotype (G/T + G/G genotype) had lower risk to develop colorectal adenocarcinoma (OR = 0.50, 95% CI = 0.29-0.87); while there was no significant difference between the colorectal adenomatous polyps patients and controls (OR = 0.63, 95% CI = 0.37-1.09), although descending tendency could be found in this polyps group. In the stratification analysis, a significant association was confined to subgroups of age DNMT3B G39179T SNP in different ethnics. DNMT3B G39179T SNP may be a potential genetic susceptibility factor for adenocarcinoma of the colon, especially in younger Chinese Han non-drinker men.

  18. Comparison between Capsule Endoscopy and Magnetic Resonance Enterography for the Detection of Polyps of the Small Intestine in Patients with Familial Adenomatous Polyposis

    Directory of Open Access Journals (Sweden)

    E. Akin

    2012-01-01

    Full Text Available Objective. The objective of this study was to assess the utility of magnetic resonance enterography (MRE compared with capsule endoscopy (CE for the detection of small-bowel polyps in patients with familial adenomatous polyposis (FAP. Methods. Patients underwent MRE and CE. The polyps were classified according to size of polyp: 10 mm (large size. The location (jejunum or ileum and the number of polyps (1–5, 6–20, >20 detected by CE were also assessed. MRE findings were compared with the results of CE. Results. Small-bowel polyps, were detected by CE in 4 of the 6 (66% patients. Three patients had small-sized polyps and one patient had medium-sized polyps. CE detected polyps in four patients that, were not shown on MRE. Desmoid tumors were detected on anterior abdominal wall by MRE. Conclusion. In patients with FAP, CE can detect small-sized polyps in the small intestine not seen with MRE whereas MRE yields additional extraintestinal information.

  19. Chinese Adolescents' Influence on Family Decision Making

    OpenAIRE

    He, Shushi

    2008-01-01

    The purpose of this study is to investigate Chinese adolescents' influence on family decision making regarding on the effect of children's characteristics including academic performance, product knowledge and financial saving. The concept of value alignment is initially introduced to the family decision making since it greatly concerns on the Chinese culture. It is assumed that China's only children would have more influence on the decision making of high-end electronic goods when they align ...

  20. Celebrating Spring Festival with a Chinese Family

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    Bring gifts The nice thing about visiting Chinese families is that while k is polite to bring gifts, generic gifts are expected and even welcome. You don't have to go overboard, nor do you have to spend a lot of time picking out something personal for each family member. A gift box of inseason fruit, a carton of cigarettes,

  1. Chinese Family Problems: Research and Trends.

    Science.gov (United States)

    Zhangling, Wei

    1983-01-01

    Discusses family life in China, which has undergone several dramatic changes including raising of the legal marriage age, less restrictions on divorce, and official promotion of family planning. Because these policies and practices conflict with Chinese traditions, inevitable problems have arisen. (JAC)

  2. Relational incentives in Chinese family firms

    Directory of Open Access Journals (Sweden)

    Pi Jiancai

    2011-01-01

    Full Text Available This paper mainly discusses the choice of managerial compensation contracts in Chinese family firms. Relation or guanxi in Chinese language is an important factor that should be considered because it can bring the shirking cost to the relation-based manager and the caring cost to the owner under Chinese-style differential mode of association (“chaxu geju”. Our theoretical analysis shows that under some conditions it is optimal for the owner to choose the efficiency wage contract, and that under other conditions it is optimal for the owner to choose the share-based incentive contract.

  3. Relationship between Fecal Content of Fatty Acids and Cyclooxygenase mRNA Expression and Fatty Acid Composition in Duodenal Biopsies, Serum Lipoproteins, and Dietary Fat in Colectomized Familial Adenomatous Polyposis Patients

    Directory of Open Access Journals (Sweden)

    K. Almendingen

    2010-01-01

    Full Text Available A few familial adenomatous polyposis studies have focused upon faecal sterols and bile acids but none has analysed the fecal content of fatty acids. We report here findings of an observational study on 29 colectomized familial adenomatous polyposis patients that describe the fecal content of fatty acids, and relate this to the proportions of fatty acids and levels of cyclooxygenase mRNA expression in duodenal biopsies, levels of serum lipoproteins, and diet. In the ileostomy group separately (n=12, the fecal content of arachidonic acid was correlated negatively to the proportions of eicosapentaenoic acid and docosahexaenoic acid in duodenal biopsies. Total serum-cholesterol was negatively correlated to the fecal content of saturates and monounsaturates. The fecal palmitoleic acid/palmitic acid ratio was positively correlated to the levels of cyclooxygease-2 expression in duodenal biopsies.In the ileal-pouch-anal anastomosis group separately (n=17, significant correlations were found between the fecal contents of oleic acid, linoleic acid, and alpha-linolenic acid, and the proportions of myristic acid, oleic acid and eicosaenoic acid in duodenal biopsies. Dietary monounsaturates were positively correlated to different fecal fatty acids. Future studies should focus on molecular mechanisms relevant to fatty acid metabolism, inflammation, and angiogenesis, in addition to nutrition.

  4. Andalusian Registry for Familial Adenomatous Polyposis: Analysis of patients included Registro Andaluz de la Poliposis Adenomatosa Familiar: Análisis de los pacientes incluidos

    Directory of Open Access Journals (Sweden)

    M. Garzón Benavides

    2010-11-01

    Full Text Available Objective: To evaluate the phenotype and genotype characteristic of patients included in the Andalusian Registry for familial adenomatous polyposis, the genotype/phenotype correlation and the impact of Registry in the frequency of colorectal cancer of registered. Material and methods: A descriptive study of 77 patients with FAP belonging to 33 families, included in a centralized database visited by the physicians of the hospitals taking part in the present study, on prior signing of confidentiality letters. All genetic studies were carried out in the Immunology Service of our institution. Results: We have included in our study 77 patients of 33 families; 31 probands with a mean age of 32 years (13-51 and 46 relatives at risk with a mean age of 21.8 years (6-55. Genetic study informed in 68/77 with positive result in 92.6%. Ten probands showed colorectal cancer (CRC at the time of diagnosis (32.2%. Only two affected relatives showed CRC at diagnosis (4.3%, a statistically significant difference (p Objetivos: Valorar las características fenotípicas y genotípicas de los pacientes incluidos en el Registro Andaluz de la poliposis adenomatosa familiar, la relación genotipo/fenotipo y el impacto del Registro en la frecuencia de cáncer colorrectal de los familiares registrados. Material y métodos: Estudio descriptivo de 77 pacientes con PAF, pertenecientes a 33 familias, incluidos en una base de datos centralizada a la que tienen acceso los responsables de los hospitales participantes, previa firma de cartas de confidencialidad. Todos los estudios genéticos se realizan en el Servicio de Inmunología de nuestro Hospital. Resultados: 77 pacientes registrados (50,6% varones: 31 probandos, edad media: 32 años (13-51 y 46 familiares afectos, edad media 21,8 años (6-55. Estudio genético informado en 68/77 con resultado positivo en 92,6%. Cáncer colorrectal al diagnóstico en diez probandos (32,2% y 2 familiares afectos (4,3%, diferencia estad

  5. Diagnosis of familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen

    1991-01-01

    , the diagnostic evaluation includes colonoscopy and gastroduodenoscopy. Screening of first degree relatives should start at the age of 10 years, using proctosigmoidoscopy at regular intervals. The recent detection of a specific FAP gene at chromosome 5 and of congenital retinal pigmentations will allow an early...

  6. Mothers' Self-Reported Emotional Expression in Mainland Chinese, Chinese American and European American Families

    Science.gov (United States)

    Camras, Linda; Kolmodin, Karen; Chen, Yinghe

    2008-01-01

    This study compared Mainland Chinese, Chinese American and European American mothers' self-reported emotional expression within the family. Mothers of 3-year-old European American (n = 40), Chinese American (n = 39) and Mainland Chinese (n = 36) children (n = 20 girls per group) completed the Self-Expressiveness in the Family Questionnaire (SEFQ),…

  7. Clinical and ethical implications of genetic counselling in familial adenomatous polyposis Implicaciones clínicas y éticas del consejo genético en la poliposis adenomatosa familiar

    Directory of Open Access Journals (Sweden)

    A. Fernández-Suárez

    2005-09-01

    Full Text Available The association of specific genetic disturbances with the development of hereditary cancer helps us to understand the risk of suffering from it, the possibility of an earlier diagnosis, and the treatment and prevention of this disease. Familial adenomatous polyposis (FAP is a pre-neoplastic syndrome characterized by the presence of hundreds of adenomatous polyps in the colon, which develop into a carcinoma. FAP can be diagnosed using sequencing techniques to detect mutations in the germinal line of the APC (adenomatous polyposis coli gene. The genetic diagnostic approach in families with FAP, previously followed up in the Gastrointestinal Clinic, has both advantages and disadvantages, and places us nearer the disease and patient. Disclosing the results of this genetic test entails relevant problems in clinical practice, which affect the health field and raise legal and ethical issues, along with the familial, occupational, and social implications that knowing the genetic status can have on the patient. Genetic analysis is rare in normal clinical practice, which involves errors in the interpretation of the results obtained, and during the process of genetic counselling. Specialized multidisciplinary units are necessary for the management of patients with FAP undergoing analysis and appropriate genetic counselling, thus providing an individualized service. The creation of FAP registers and protocols for this healthcare process should optimize the management of these patients and their families.La asociación de determinadas alteraciones genéticas con la aparición de cáncer hereditario, nos permite conocer el riesgo de padecerlo, posibilitando el diagnóstico precoz, el tratamiento y la prevención de la enfermedad. La poliposis adenomatosa familiar (PAF es un síndrome preneoplásico que se caracteriza por la presencia de cientos de pólipos adenomatosos en colon, que evolucionarán hacia carcinoma. La PAF puede ser diagnosticada mediante t

  8. 家族性腺瘤性息肉病伴发上消化道息肉57例分析%Upper-gastrointestinal polyps found in cases of familial adenomatous polyposis

    Institute of Scientific and Technical Information of China (English)

    徐晓东; 傅传刚; 宋宁; 张卫; 刘连杰; 孟荣贵; 于恩达

    2012-01-01

    目的 探讨家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)患者伴发上消化道息肉(胃及十二指肠)的发生率、内镜下的表现特征及其病理学特点.方法 对上海第二军医大学长海医院2004年1月至2010年6月收治的57例临床诊断为FAP患者采用胃镜、十二指肠侧视镜进行上消化道病变的筛查,并对发现的息肉样病灶进行组织学活检,分析FAP伴胃及十二指肠息肉的发病状况.结果 本组57例FAP患者中发生胃内息肉38例,占67%,息肉多数位于胃体和胃窦部,为增生性息肉;十二指肠息肉12例,占21%,其中7例为腺瘤性息肉.结论 上消化道息肉是FAP最常见的大肠外病变,胃内息肉多为增生性息肉;而十二指肠可能伴发腺瘤性息肉,属癌前病变.%Objective To discuss the incidence,endoscopic manifestion and pathological features of the upper-gastrointestinal polyps ( stomach and deodenum) in FAP patients. Methods During 2004 -2010 a total 57 FAP patients at Changhai Hospital underwent screening for polyps in upper-gastrointestinal tract by gastroscopy and sideward-viewing duodenoscopy. Biopsies were taken on the polypoid lesions.Results Gastric polyps were found in 38 patients (67%).Most polyps were located at gastric body and antrum,the pathologic diagnosis was hyperplastic. Duodenal polyps were found in 12 patients (21%) including 7 cases of adenomatous polys. Conclusions Upper- gastrointestinal polyps are the most common extra-colonic manifestion in FAP. Most stomach polyps are located at gastric body and antrum and are hyperplastic.Polyps at duodenum may be adenomatous,which is a precusor of carcinoma.

  9. Surgical treatment of familial adenomatous polyposis: ileoretal anastomosis or restorative proctolectomy? Tratamento cirúrgico da polipose adenomatosa familiar: anastomose íleo-retal ou bolsa ileal?

    Directory of Open Access Journals (Sweden)

    Fábio Guilherme Campos

    2009-12-01

    Full Text Available CONTEXT: Controversy regarding the best operative choice for familial adenomatous polyposis lays between the morbidity of restorative proctocolectomy and the supposed mortality due to rectal cancer after ileorectal anastomosis. OBJECTIVES: To evaluate operative complications and oncological outcome after ileorectal anastomosis and restorative proctocolectomy. METHODS: Charts from patients treated between 1977 and 2006 were retrospectively analyzed. Clinical and endoscopic data, results of treatment, pathological reports and information regarding early and late outcome were recorded. RESULTS: Eighty-eight patients - 41 men (46.6% and 47 women (53.4% - were assisted. At diagnosis, 53 patients (60.2% already had associated colorectal cancer. Operative complications occurred in 25 patients (29.0 %, being 17 (19.7% early and 8 (9.3% late complications. There were more complications after restorative proctocolectomy (48.1% compared to proctocolectomy with ileostomy (26.6% and ileorectal anastomosis (19.0% (P = 0,03. There was no operative mortality. During the follow-up of 36 ileorectal anastomosis, cancer developed in the rectal cuff in six patients (16,6%. Cumulative cancer risk after ileorectal anastomosis was 17.2% at 5 years, 24.1% at 10 years and 43.1% at 15 years of follow-up. Age-dependent cumulative risk started at 30 years (4.3%, went to 9.6% at 40 years, 20.9% at 40 years and 52% at 60 years. Among the 26 patients followed after restorative proctocolectomy, it was found cancer in the ileal pouch in 1 (3.8%. CONCLUSIONS: 1. Operative complications occurred in about one third of the patients, being more frequently after the confection of ileal reservoir; 2. greater age and previous colonic carcinoma were associated with the development of rectal cancer after ileorectal anastomosis; 3. patients treated by restorative proctocolectomy are not free from the risk of pouch degeneration; 4. the disease complexity and the various risk factors

  10. Familial correlation of retinal vascular caliber in Singapore Chinese

    NARCIS (Netherlands)

    L.-J. Li (Ling-Jun); J. Liao (Jie); Q. Fan (Qiao); C.Y.-L. Cheung (Carol Yim-Lui); M.K. Ikram (Kamran); C-Y. Cheng (Ching-Yu); S-M. Saw (Seang-Mei); T.Y. Wong (Tien)

    2013-01-01

    textabstractPurpose. Our study aimed to explore the heritability of retinal vascular caliber among Singapore Chinese families. Methods. In the Strabismus, Amblyopia, and Refractive Error Study in Singaporean Chinese Preschoolers (STARS) family study conducted from 2008 to 2010, a total of 727 partic

  11. Hereditary Transthyretin Amyloidosis in Eight Chinese Families

    Institute of Scientific and Technical Information of China (English)

    Ling-Chao Meng; He Lyu; Wei Zhang; Jing Liu; Zhao-Xia Wang; Yun Yuan

    2015-01-01

    Background:Mutations of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis,which occurs worldwide.To date,more and more mutations in the TTR gene have been reported.Some variations in the clinical presentation are often observed in patients with the same mutation or the patients in the same family.The purpose of this study was to find out the clinicopathologic and genetic features of Chinese patients with hereditary TTR amyloidosis.Methods:Clinical and necessary examination materials were collected from nine patients of eight families with hereditary TTR amyloidosis at Peking University First Hospital from January 2007 to November 2014.Sural nerve biopsies were taken for eight patients and skin biopsies were taken in the calf/upper arm for two patients,for light and electron microscopy examination.The TTR genes from the nine patients were analyzed.Results:The onset age varied from 23 to 68 years.The main manifestations were paresthesia,proximal and/or distal weakness,autonomic dysfunction,cardiomyopathy,vitreous opacity,hearing loss,and glossohypertrophia.Nerve biopsy demonstrated severe loss ofmyelinated fibers in seven cases and amyloid deposits in three.One patient had skin amyloid deposits which were revealed from electron microscopic examination.Genetic analysis showed six kinds of mutations of TTR gene,including Val30Met,Phe33Leu,Ala36Pro,Val30Ala,Phe33Val,and Glu42Gly in exon 2.Conclusions:Since the pathological examinations of sural nerve were negative for amyloid deposition in most patients,the screening for TTR mutations should be performed in all the adult patients,who are clinically suspected with hereditary TTR amyloidosis.

  12. Evaluación económica de la prueba genética de la poliposis adenomatosa familiar An economic assessment of genetic testing for familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    A. Olry de Labry Lima

    2008-08-01

    Full Text Available Objetivo: analizar el coste-utilidad de la prueba genética a familiares de primer grado de pacientes con cáncer de colon para determinar mutaciones del gen APC (Adenomatous Polyposis Coli. Metodología: los análisis se realizaron desde el punto de vista del sistema sanitario. Se utilizó un modelo de Markov. Realización de la prueba genética para el gen APC, causante de la poliposis adenomatosa familiar (PAF, que produce cáncer de colon frente a la no realización de la misma. La medida de efectividad utilizada fueron los años de vida ajustados por calidad (AVAC y la unidad de coste los euros de 2005. Los costes de las intervenciones fueron extraídos de los precios públicos de los servicios sanitarios prestados por centros dependientes del Sistema Sanitario Público Andaluz y los valores de la efectividad y de utilidad de la literatura. Resultados: la realización de la prueba genética se muestra como una estrategia dominante a la no realización de la misma, ya que esta última tiene un coste incremental de 7.676,34 €, además de una menor efectividad. Los análisis de sensibilidad mostraron que la realización de la prueba genética se mantiene como la estrategia dominante dentro de un amplio rango de coste de la prueba y de probabilidad de desarrollar adenocarcinomas. Conclusiones: los análisis mostraron que, para este grupo de pacientes, la realización de la prueba genética para la detección de la mutación del gen APC es en promedio menos costosa y además produce una mejora en AVAC comparado con la no realización de la misma.Objective: to analyze the cost-effectiveness of genetic testing for first-degree relatives of patients with colon cancer to identify mutations in the APC gene (Adenomatous Polyposis Coli. Methodology: analyses were performed from the perspective of the health system. We used a Markov model. We compared genetic testing for the APC gene, the cause of familial adenomatous polyposis (FAP, which results in

  13. Association and regulation of casein kinase 2 activity by adenomatous polyposis coli protein

    OpenAIRE

    Homma, Miwako Kato; Li, Dongxia; Krebs, Edwin G.; Yuasa, Yasuhito; Homma, Yoshimi

    2002-01-01

    Mutations in the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis coli and also sporadic colorectal cancer development. By using antibodies raised against the N-terminal region of APC protein, we have detected the variable masses of endogenous APC proteins in individual cell lines established from human colorectal carcinomas caused by nonsense mutations of the gene. Phosphorylation of immunoprecipitates of full-length and truncated APC were observed in ...

  14. Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421X

    Directory of Open Access Journals (Sweden)

    Orestis Ioannidis

    2012-03-01

    Full Text Available Familial adenomatous polyposis (FAP is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. The syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (APC gene. We present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline APC mutation, the W421X mutation, which resulted in FAP presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors.

  15. The Ties That Bind. The Chinese American Family in Transnational Chinese Cinema

    NARCIS (Netherlands)

    Han, Q.

    2014-01-01

    The primary research question raised in the thesis is how have films been able to construct the identity of ethnic Chinese in the United States? This question is addressed through three sub-questions. First, why is the family narrative so characteristic of films about Chinese Americans in transnatio

  16. JEWISH FAMILY EDUCATION AND IMPLICATIONS ON CHINESE EDUCATION

    Institute of Scientific and Technical Information of China (English)

    柯艳

    2016-01-01

    The Jewish nation, though having experienced countless hardship, has strong risen again from a variety of setbacks. All power comes from their unique family education consisting of rich contents,such as wisdom, skill, religious, and history education.Family education is also of vital importance in all ages in China that a country surviving from various disasters. Therefore, This paper aims to study Jewish family education through its contents and features and explore the reflections on Chinese education.

  17. A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype

    Directory of Open Access Journals (Sweden)

    Torrezan Giovana

    2012-07-01

    Full Text Available Abstract Background Familial adenomatous polyposis (FAP is a hereditary colorectal cancer syndrome caused by a loss of function of the APC gene. Large deletions in APC are a common cause of FAP; despite the existence of a variety of gene dosage detection methodologies, most are labor intensive and time and resource consuming. Methods We describe a new duplex qPCR method for gene dosage analysis based on the coamplification of a target and a reference gene in a SYBR Green reaction, followed by a comparison of the ratio between the target and the reference peaks of the melting curve for the test (patient and control samples. The reliability of the described duplex qPCR was validated for several genes (APC, HPRT1, ATM, PTEN and BRCA1. Results Using this novel gene dosage method, we have identified an APC gene deletion in a FAP patient undergoing genetic testing. Comparative genomic hybridization based on microarrays (aCGH was used to confirm and map the extent of the deletion, revealing a 5.2 MB rearrangement (5q21.3-q22.3 encompassing the entire APC and 19 additional genes. Conclusion The novel assay accurately detected losses and gains of one copy of the target sequences, representing a reliable and flexible alternative to other gene dosage techniques. In addition, we described a FAP patient harboring a gross deletion at 5q21.3-q22.3 with an unusual phenotype of the absence of mental impairment and dysmorphic features.

  18. Acculturative Family Distancing (AFD) and Depression in Chinese American Families

    Science.gov (United States)

    Hwang, Wei-Chin; Wood, Jeffrey J.; Fujimoto, Ken

    2010-01-01

    Objective: Knowledge of acculturative processes and their impact on immigrant families remains quite limited. Acculturative family distancing (AFD) is the distancing that occurs between immigrant parents and their children and is caused by breakdowns in communication and cultural value differences. It is a more proximal and problem-focused…

  19. Clinical and genetic analysis of two Chinese families with benign familial neonatal convulsions

    Institute of Scientific and Technical Information of China (English)

    LI Haiyan; TANG Beisha; XIA Kun; CAO Guifang; SHEN Lu; JIANG Hong; PAN Qian; SONG Yanmin; CAI Fang

    2005-01-01

    Benign familial neonatal convulsions (BFNC) is a rare autosomal dominant inherited epilepsy syndrome. Two voltagegated potassium channel genes, KCNQ2 and KCNQ3, have been identified as the genes responsible for BFNC. Here we report two Chinese families with clinical histories of typical BFNC. Using six microsatellite markers, two located at KCNQ2 locus and four at KCNQ3 locus, linkage analysis was performed in the two families, which excluded the linkage of BFNC to KCNQ3, but could not exclude the linkage to KCNQ2. Direct DNA sequencing of the KCNQ2 gene in the two families was performed, and two formerly unknown polymorphisms were identified, but no KCNQ2 mutation was found in the two families. Our study suggests the genetic heterogeneity in Chinese families with BFNC and proves the existence of a new gene locus for BFNC.

  20. How to Apply Family Education in Little Women to Chinese Families

    Institute of Scientific and Technical Information of China (English)

    李娜

    2014-01-01

    In recent years in China, family education has become more and more important. Family plays the most crucial role in children's education. So more and more parents begin to pay much more attention to family education than before. However, what ways are best for them to use? Most parents have no idea at all and some are trying to use some education methods learned from books. Little Women is a book from which we can learn a lot of useful things, the obvious one is family education. This novel was written by an American author in 19th century. As a result, both time and place are a little far away from people in China. But at that time, the March's family education did work very well and made far-reaching influence. So in the first part in this paper what will be introduced in is about finding out how the March's family dealt with those unpleasant things, and the sec-ond part will discuss some disadvantages of Chinese family education, then the third part will see if March's ways could be used in Chinese families or how to make some changes about their ways so that those ways could work in Chinese families as well as they did in the March's.

  1. Cultural influences on parental bereavement in Chinese families.

    Science.gov (United States)

    Ho, Sio-Wa; Brotherson, Sean E

    2007-01-01

    The purpose of this study was to explore the bereavement experiences of parents who had experienced the death of a child in Chinese families. In-depth interviews were conducted with 10 bereaved parents in Macau, China. Narrative accounts of Chinese parents' experience in the loss of a child were explored to understand how their connection to the deceased child and their worldview were influenced by cultural beliefs and values. Study themes related to parental connections with the deceased child included the use of object linking, memorializing acts, and avoidance of traditional funeral processes, with clear patterns of Chinese cultural influence. Additionally, themes related to impacts on parental worldview included use of the concept of fate as a rationale for child loss and influences on religious orientation. The influence of cultural beliefs and background on Chinese parents as they deal with the issue of a child's death was apparent. Further research is needed and will benefit our understanding of parental bereavement in Chinese families.

  2. Chinese Immigrant Families and Bilingualism among Young Children

    Science.gov (United States)

    Honig, Alice Sterling; Xu, Yili

    2012-01-01

    Thirty-five children (17 boys and 18 girls, 4 to 8 years old) in 2-parent Chinese immigrant families had attended English-speaking facilities for 35.0 months (boys) and 32.9 months (girls), respectively. They were tested at home with the Peabody Picture Vocabulary Test-Revised (PPVT-R) and the Mandarin version of PPVT-R. No gender differences were…

  3. Management and process structure in Chinese Family Firms

    Institute of Scientific and Technical Information of China (English)

    Pan Lingling

    2010-01-01

    In current situation, the management and process structure in Chinese family finns is lack of complete set of rules and sys-tems, low on its specialization level, and informal management. Leadership is another vital influences in family finns. The large power distance make employees hesitate to openly challenge their leaders. Employees and external persons are not able to share any decision - making proces-ses. The finn' s owner makes most of the decisions. Even in management control, it is hard to make objective assessments of employee per-formance.

  4. FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax.

    Science.gov (United States)

    Ding, Yibing; Zhu, Chengchu; Zou, Wei; Ma, Dehua; Min, Haiyan; Chen, Baofu; Ye, Minhua; Pan, Yanqing; Cao, Lei; Wan, Yueming; Zhang, Wenwen; Meng, Lulu; Mei, Yuna; Yang, Chi; Chen, Shilin; Gao, Qian; Yi, Long

    2015-05-01

    Primary spontaneous pneumothorax (PSP) is a significant clinical problem, affecting tens of thousands patients annually. Germline mutations in the FLCN gene have been implicated in etiology of familial PSP (FPSP). Most of the currently identified FLCN mutations are small indels or point mutations that detected by Sanger sequencing. The aim of this study was to determine large FLCN deletions in PSP families that having no FLCN sequence-mutations. Multiplex ligation-dependent probe amplification (MLPA) assays and breakpoint analyses were used to detect and characterize the deletions. Three heterozygous FLCN intragenic deletions were identified in nine unrelated Chinese families including the exons 1-3 deletion in two families, the exons 9-14 deletion in five families and the exon 14 deletion in two families. All deletion breakpoints are located in Alu repeats. A 5.5 Mb disease haplotype shared in the five families with exons 9-14 deletion may date the appearance of this deletion back to approximately 16 generations ago. Evidences for founder effects of the other two deletions were also observed. This report documents the first identification of founder mutations in FLCN, as well as expands mutation spectrum of the gene. Our findings strengthen the view that MLPA analysis for intragenic deletions/duplications, as an important genetic testing complementary to DNA sequencing, should be used for clinical molecular diagnosis in FPSP.

  5. Colonoscopia com magnificação de imagem no diagnóstico de carcinoma colorretal invasivo da submucosa na polipose adenomatosa familiar Magnifying colonoscopy diagnosis of submucosal invasive colorectal carcinoma in familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    Cláudio TARTA

    2000-04-01

    Full Text Available O desenvolvimento da colonoscopia com magnificação de imagem possibilitou o estudo detalhado da mucosa colônica e o diagnóstico diferencial entre lesões neoplásicas e não-neoplásicas, a partir da observação dos pit patterns. Os resultados são comparáveis à estereomicroscopia, sendo possível, assim, presumir o diagnóstico histológico. Foi realizada colonoscopia com magnificação de imagem em paciente portadora de polipose adenomatosa familiar, demonstrando-se com este método, a diversidade de lesões polipóides benignas e as apresentações morfológicas do câncer colorretal precoce. Nesta paciente, a avaliação por magnificação (videocolonoscópio FUJINON 410 - CM -- 40X, combinada à cromoscopia com indigo carmine 0,4%, demonstrou ampla variedade de lesões distribuídas por todo o cólon: lesão de espalhamento lateral no ceco com padrão IIIL + IV, pólipos subpediculados e sésseis distribuídos pelo cólon com padrão tipo IIIL, pólipo subpediculado no cólon transverso com diâmetro aproximado de 2,0 cm e padrão IV + V, lesões plano-elevadas tipo IIIL e no cólon sigmóide lesão IIa + IIc, com padrão V de Kudo. A avaliação dos pit patterns de lesões no cólon transverso e sigmóide permitiu o diagnóstico endoscópico de lesão com invasão de submucosa.The development of colonoscopy with image magnification has enable to study the colonic mucosa in detail and to do differential diagnosis between neoplastic and non-neoplastic lesions from the observation of pit patterns. The results are comparable to stereomicroscopy being possible to predict the histologic diagnosis. In a patient with familial adenomatous polyposis magnifying colonoscopy was performed and this method demonstrated a wide variaton of benign polypoid lesions and the morphological features of early colorectal cancer. In this patient, the evaluation by image magnification, together with indigo carmin 0,4% chromoscopy, showed a wide variety of

  6. Invisible and Visible Language Planning: Ideological Factors in the Family Language Policy of Chinese Immigrant Families in Quebec

    Science.gov (United States)

    Curdt-Christiansen, Xiao Lan

    2009-01-01

    This ethnographic inquiry examines how family languages policies are planned and developed in ten Chinese immigrant families in Quebec, Canada, with regard to their children's language and literacy education in three languages, Chinese, English, and French. The focus is on how multilingualism is perceived and valued, and how these three languages…

  7. Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson's Disease.

    Science.gov (United States)

    He, Ya-Chao; Huang, Pei; Li, Qiong-Qiong; Sun, Qian; Li, Dun-Hui; Wang, Tian; Shen, Jun-Yi; Du, Juan-Juan; Cui, Shi-Shuang; Gao, Chao; Fu, Rao; Chen, Sheng-Di

    2017-01-01

    Background. HTRA2 has already been nominated as PARK13 which may cause Parkinson's disease, though there are still discrepancies among these results. Recently, Gulsuner et al.'s study found that HTRA2 p.G399S is responsible for hereditary essential tremor and homozygotes of this allele develop Parkinson's disease by examining a six-generation family segregating essential tremor and essential tremor coexisting with Parkinson's disease. We performed this study to validate the condition of HTRA2 gene in Chinese familial essential tremor and familial Parkinson's disease patients, especially essential tremor. Methods. We directly sequenced all eight exons, exon-intron boundaries, and part of the introns in 101 familial essential tremor patients, 105 familial Parkinson's disease patients, and 100 healthy controls. Results. No exonic variant was identified, while one exon-intron boundary variant (rs2241028) and one intron variant (rs2241027) were detected, both with no clinical significance and uncertain function. There was no difference in allele, genotype, and haplotype between groups. Conclusions. HTRA2 exonic variant might be rare among Chinese Parkinson's disease and essential tremor patients with family history, and HTRA2 may not be the cause of familial Parkinson's disease and essential tremor in China.

  8. Family Mastery Enhances Work Engagement in Chinese Nurses: A Cross-Lagged Analysis

    Science.gov (United States)

    Lu, Chang-qin; Siu, Oi-ling; Chen, Wei-qing; Wang, Hai-jiang

    2011-01-01

    Based on Greenhaus and Powell's (2006) theory of work-family enrichment and the job demands-resources (JD-R) model of work engagement (Bakker & Demerouti, 2008), this study focused on the family-to-work enrichment process by investigating the effect of family mastery on work engagement in a Chinese context. A sample of 279 Chinese female…

  9. Family Mastery Enhances Work Engagement in Chinese Nurses: A Cross-Lagged Analysis

    Science.gov (United States)

    Lu, Chang-qin; Siu, Oi-ling; Chen, Wei-qing; Wang, Hai-jiang

    2011-01-01

    Based on Greenhaus and Powell's (2006) theory of work-family enrichment and the job demands-resources (JD-R) model of work engagement (Bakker & Demerouti, 2008), this study focused on the family-to-work enrichment process by investigating the effect of family mastery on work engagement in a Chinese context. A sample of 279 Chinese female nurses…

  10. Exclusive gene mapping of congenital microphthalmia in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    YIN Yanan; LI Hui; YU Ping; ZHOU Qiang; ZHAO Luhang; ZHANG Ya-Ping

    2006-01-01

    Congenital microphthalmia is a developmental ocular disorder and might be caused by the mutations in the genes involved in eye development.To uncover the genetic cause in a six-generation Chinese pedigree with autosomal dominant congenital microphthalmia, we performed genescan and linkage analysis in this family. Fourteen microsatellite markers on chromosomes 3, 11, 14 and 15 were selected as genetic markers according to the five previously reported loci associated with microphthalmia (MITF, SOX2, PAX6, MCOP and NN02). The genomic DNA of each member in the pedigree was amplified with 14 pairs of fluorescence labeled primers. Genome screening and genotyping were conducted on ABI377 DNA sequencer and linkage analysis was performed with Linkage software package. All two-point LOD scores of linkage analysis between the suggested disease genes and microsatellite markers were <-2, which indicated that none of the five genes were responsible for microphthalmia in this Chinese family. Microphthalmia in this family may be caused by mutation in a new gene which is essential in eye development.

  11. Molecular genetics of a Chinese family with spinocerebellar ataxia

    Directory of Open Access Journals (Sweden)

    Dan-dan WU

    2015-10-01

    Full Text Available Objective To study the genotype of the members of a Chinese family with spinocerebellar ataxia (SCA. Methods The peripheral blood samples of 6 patients and 40 asymptomatic people belonged to the family were collected. Referring to the clinical manifestations of the proband and second-generation sequencing results, the CAG trinucleotide repeats of the pathogenic gene ATXN2 were amplified by polymerase chain reaction (PCR. The repeated times of the trinucleotide in normally and abnormally amplified alleles were defined by agarose gel electrophoresis and PCR products sequencing. Results Autosomal dominant heredity was the cause of the SCA in this family. Six out of 46 in the fourth-generation were SCA2 patients, 7 were the carriers of pathogenic allele. The repeated times of CAG trinucleotide were within the normal range in one of the two alleles of ATXN2, but they were in abnormal range in the another one. The repeated times of CAG trinucleotide were 40-46 in abnormal alleles of patients. Conclusion Autosomal dominant heredity SCA2 has been diagnosed in this family caused by the dynamic nutation of CAG trinucleotide repeats, and 7 pathogenic allele carriers in this family were confirmed by genetic diagnosis. DOI: 10.11855/j.issn.0577-7402.2015.08.07

  12. The Influences of the Chinese Modern Family Changes on the Socialization of Children

    Science.gov (United States)

    Wang, Chenggang; Liu, Dan

    2006-01-01

    This article mainly introduces the contemporary changes in Chinese family and especially analyses the transformation of family structure and type, family housing conditions, family relationship network, the relationship between husband and wife and parenthood. In addition, it discusses the influence of family changes in the socialization of…

  13. Improving the quality of care in Chinese family planning programme.

    Science.gov (United States)

    Jiang, Y; Geng, Q; Haffey, J; Douglas, E

    1994-10-01

    The Chinese State Family Planning Commission (SFPC) is the government department responsible for coordinating and implementing the national population and family planning programs. The commission includes about 300,000 family planning workers and 50 million volunteers. Community workers provide IEC and technical services to couples of reproductive age. In July 1991, SFPC began a five year project to train rural family planning workers in contraceptive technology and interpersonal communication and counseling. These workers were important because of their service to a population of 800 million or 75% of total population. The training program was part of an effort to standardize training and institutionalize it throughout the country. The project involved 20 pilot training stations in 19 provinces. The primary task was to train family planning workers at the grassroots level. 80,000 persons were expected to be trained during the five years. Activities included a training needs assessment, development of training curricula and programs, training of workers, and monitoring and evaluation. Training techniques and topics will include participatory training methods, interpersonal communication and counseling, development of audience based training methods, issues of contraceptive choice and quality of care, and counseling issues such as sexually transmitted disease and HIV infection prevention. About 40,000 family planning workers and volunteers were trained by 1992 in counties, townships, and villages. Trainees learned about "informed choice" and the importance of counseling. Feedback from training activities focused on the appreciation for the participatory training methods such as brainstorming, case study, and role play. Workers appreciated the process involved in training as well as the information received. Evaluation showed that clients improved their knowledge and had positive interactions with workers.

  14. Preschool Predictors of Dyslexia Status in Chinese First Graders with High or Low Familial Risk

    Science.gov (United States)

    Ho, Connie Suk-han

    2014-01-01

    The present 4-year longitudinal study examined preschool predictors of Grade 1 dyslexia status in a Chinese population in Hong Kong where children started learning to read at the age of three. Seventy-five and 39 Chinese children with high and low familial risk respectively were tested on Chinese word reading, oral language skills, morphological…

  15. The Influences of the Chinese Modern Family Changes on the Socialization of Children

    Institute of Scientific and Technical Information of China (English)

    Wang Chenggang; Liu Dan

    2006-01-01

    This article mainly introduces the contemporary changes in Chinese family and especially analyses the transformation of family structure and type,family housing conditions,family relationship network.the relationship between husband and wife and parenthood.In addition,it discusses the influence of family changes in the soeialization of children.Then it expounds the new transformation in children's socialization because of family,school,mass media,etc.Finally,it discusses its challenge and reflection to family and pedagogue.

  16. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test

    Energy Technology Data Exchange (ETDEWEB)

    Van Der Luut, R.; Khan, P.M.; Van Leeuwen, C.; Tops, C.; Roest, P.; Den Dunnen, J. (Leiden Univ. (Netherlands))

    1994-03-01

    Familial adenomatous polyposis (FAP) is usually associated with protein truncating mutations in the adenomatous polyposis coli (APC) gene. The APC mutations are known to play a major role in colorectal carcinogensis. For the identification of protein truncating mutations of the APC gene, the authors developed a rapid, sensitive, and direct screening procedure. The technique is based on the in vitro transcription and translation of the genomic PCR products and is called the protein truncation test. Samples of DNA from individual FAP patients, members of a FAP family, colorectal tumors, and colorectal tumor-derived cell lines were used to show the effectiveness of this method. 9 refs., 2 figs.

  17. Family influence on volunteering intention and behavior among Chinese adolescents in Hong Kong.

    Science.gov (United States)

    Law, Ben M F; Shek, Daniel T L

    2009-01-01

    Based on the responses of 5,946 adolescents (mean age = 14.77), the relationships among family influence, adolescents' volunteering intention, and volunteering behavior in a Chinese context were examined. A 9-item Chinese Family Influence on Adolescent Volunteerism Scale (C-FIAV) was used to measure nine kinds of influence of the family (such as family support) which could be subsumed under two underlying domains (positive family influence and extrinsic family influence). Results showed that family support, family belief, and family modeling were positively associated with both intention and behavior. Family reward and coercion were negatively associated with both intention and behavior. Family belief in volunteerism was the most critical factor. Grade and gender differences were found only in the associations between family influence and volunteering intention. Path models showed that positive and extrinsic family influence had an effect on volunteering behavior directly or via the mediation of volunteering intention. Implications and limitations are discussed.

  18. Rewriting the history of Chinese families in nineteenth-century Australia.

    Science.gov (United States)

    Bagnall, Kate

    2011-01-01

    The nineteenth-century Chinese population in Australia was made up mostly of men, drawing many commentators to the conclusion these men faced an absence of family life, resulting in prostitution, gambling, opium use and other so-called vices. Recent research has, however, expanded and complicated our knowledge of Chinese families in New South Wales and Victoria, particularly concerning the extent to which Chinese men and white Australian women formed intimate relationships. This article traces the origins of the misconceptions about Chinese families in nineteenth-century Australia, and considers how new directions in scholarship over the past decade are providing methods for enlarging our knowledge. It argues that instead of being oddities or exceptions, Chinese-European families were integral to the story of Australia's early Chinese communities.

  19. On Collectivism-Individualism dimension in Chinese and Western Family Relationships

    Institute of Scientific and Technical Information of China (English)

    张芳

    2012-01-01

      Western culture emphasizes on individualism, individual freedom and personal choice, while Chinese people put more emphasis on col ectivism. Col ectivism-Individualism value differences can also be reflected in Chinese and Western Family Relationships, which may sometimes lead to conflicts between the couples in the cross-cultural marriage and their families .

  20. BRCA1 Gene Mutations in Chinese Families with Breast Cancer

    Institute of Scientific and Technical Information of China (English)

    Yurong Shi; Chenbin Li; Ruifang Niu; Xishan Hao; Xiangcheng Zhi; Liansheng Ning

    2005-01-01

    OBJECTIVE To investigate the frequency of BRCA1 gene mutations in breast cancer families in China.METHODS Genomic DNA was obtained by conventional techniques from the peripheral blood mononuclear cells collected from 94 persons derived from 45 breast cancer families. All participants gave written informed consent. The mutations in the BRCA1 gene were detected by the polymerase chain reaction and single stranded conformation polymorphism(PCR-SSCP). Then , the samples of interest were sent for direct DNA sequencing.RESULTS No mutation sites were found in exon 2 or 20 by DNA sequencing.Eight sites were found in exon 11 such as 2201C>T (Ser694Ser),3232A>G(Glu 1038Gly), 2201C >A/G (Ser694Arg), 2731C >T (Pro871Leu),2086A >T(Asn591lle) and three sites of 1584G>T (Glu424Stop). Three mutation sites were found in exon 16 which included 5106A >G (Met1663Val),5208delT(Stop 1639) and 4956A>G (Ser 1613Gly).CONCLUSION These mutation sites may be related to breast cancer, but more investigation is needed to determine whether the mutation sites are hot spots of mutations in Chinese familial breast cancer patients.

  1. Immunopurification of adenomatous polyposis coli (APC) proteins

    OpenAIRE

    Elliott, Kerryn L.; Catimel, Bruno; Church, Nicole L; Janine L Coates; Antony W Burgess; Layton, Meredith J.; Faux, Maree C.

    2013-01-01

    Background The adenomatous polyposis coli (APC) tumour suppressor gene encodes a 2843 residue (310 kDa) protein. APC is a multifunctional protein involved in the regulation of β-catenin/Wnt signalling, cytoskeletal dynamics and cell adhesion. APC mutations occur in most colorectal cancers and typically result in truncation of the C-terminal half of the protein. Results In order to investigate the biophysical properties of APC, we have generated a set of monoclonal antibodies which enable puri...

  2. A longitudinal study of family obligation and depressive symptoms among Chinese American adolescents.

    Science.gov (United States)

    Juang, Linda P; Cookston, Jeffrey T

    2009-06-01

    The purpose of this 2-year, 3-wave longitudinal study of Chinese American adolescents was to examine how family obligation behaviors and attitudes change over time; how gender, nativity, and birth order predict these trajectories; and whether family obligation relates to depressive symptoms. Findings suggest that family obligation behaviors decreased over the 2-year period but that family obligation attitudes were stable. Moreover, foreign-born adolescents reported higher levels of family obligation behavior than U.S.-born adolescents, and firstborn adolescents reported higher family obligation attitudes than laterborn adolescents. There were no gender differences in family obligation behaviors or attitudes. The findings also suggest that initial higher levels of family obligation were associated with subsequently fewer depressive symptoms. Finally, changes in family obligation behaviors related to changes in depressive symptoms over time such that increasing family obligation behaviors related to decreasing depressive symptoms. The results highlight the importance of understanding the role of family obligation to Chinese American adolescents' mental health.

  3. Complicações imediatas e tardias após cirurgia de reservatório ileal na polipose adenomatosa familiar Short-term and long-term postoperative complications after ileal pouch-anal anastomosis in familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    Raquel Franco Leal

    2008-06-01

    Full Text Available RACIONAL: A retocolectomia total com confecção de reservatório ileal é cirurgia ideal para o tratamento do cólon e reto dos doentes com polipose adenomatosa familiar, no entanto pode estar associada a complicações no pós-operatório imediato e tardio. OBJETIVO: Estudar as complicações pós-operatórias da cirurgia do reservatório ileal na polipose adenomatosa familiar. MÉTODOS: Estudo retrospectivo de 69 doentes com polipose adenomatosa familiar submetidos a cirurgia de reservatório ileal no período de 1984 a 2006, pelo Grupo de Coloproctologia da Faculdade de Ciências Médicas da Universidade Estadual de Campinas, SP. O seguimento médio pós-operatório foi de 82 (2-280 meses. Dados de interesse: ocorrência de complicações no pós-operatório. RESULTADOS: A morbidade e mortalidade foram de 63,8% e 2,9%, respectivamente. As complicações mais freqüentes foram obstrução intestinal (17,4%, estenose da anastomose (15,9% e sepse pélvica (10,1%. Outras complicações foram isquemia aguda do reservatório ileal (4,3%, ileíte do reservatório (" pouchitis" (2,9% e fístulas relacionadas ao reservatório (2,9%. CONCLUSÕES: A morbimortalidade foi semelhante à da literatura e aceitável para uma cirurgia complexa como é a do reservatório ileal, realizada em dois tempos operatórios. A obstrução intestinal foi a complicação mais freqüente. Entretanto, isquemia do reservatório, " pouchitis" e sepse pélvica constituíram importantes complicações relacionadas à perda do reservatório ileal.BACKGROUND: Restorative proctocolectomy is the procedure of choice to treat familial adenomatous polyposis, however it can be associated to short-term and long-term postoperative complications. AIM: To evaluate the occurrence of complications related to the surgical treatment of familial adenomatous polyposis with ileal pouch technique. METHODS: Retrospective study of 69 patients with familial adenomatous polyposis after rectocolectomy

  4. Family Stress, Parenting Styles, and Behavioral Adjustment in Preschool-Age Adopted Chinese Girls

    Science.gov (United States)

    Tan, Tony Xing; Camras, Linda A.; Deng, Huihua; Zhang, Minghao; Lu, Zuhong

    2012-01-01

    This study seeks to extend previous research on family stress, parenting, and child adjustment to families with adopted Chinese children. In doing so, we also seek to strengthen inferences regarding the experiential underpinnings of previously obtained relationships among these variables by determining if they also occur in families where parents…

  5. Individual and Familial Factors Influencing the Educational and Career Plans of Chinese Immigrant Youths

    Science.gov (United States)

    Ma, Pei-Wen Winnie; Yeh, Christine J.

    2010-01-01

    The authors explore how individual and familial factors predict educational and career aspirations, plans, and vocational outcome expectations of urban, Chinese immigrant youths. Participants were 265 Chinese immigrant high school students in New York City. The results indicated that higher self-reported English language fluency and career-related…

  6. The Relationship between Family Dynamics and Career Interests among Chinese Americans and European Americans

    Science.gov (United States)

    Leong, Frederick T. L.; Kao, Erika Ming-Chu; Lee, Szu-Hui

    2004-01-01

    The purpose of this study was to explore the ethnic differences in family dynamics and career interests of European Americans and Chinese Americans and how these dynamics--cohesion, expressiveness, and conflict--influence one's career interests. Significant ethnic differences in career interests were found. The Chinese Americans' highest career…

  7. Enabling Intrapreneurship : A Case of A Chinese Family Business and SMEs in Malaysia

    OpenAIRE

    Chia, Woan Tyng

    2011-01-01

    The objective of this study is to conduct an exploratory study into the intrapreneurial behavior in southeast Chinese family business firms. This is very much in response to the fact that current available literatures in corporate entrepreneurship are mainly focused on western well-established organizations. Whereas, the study of corporate entrepreneurship in Chinese family business context are still lacking.This study target discloses whether the enablers of corporate entrepreneurship, which...

  8. Association between Cognitive Distortion, Type D Personality, Family Environment, and Depression in Chinese Adolescents

    OpenAIRE

    Yong Zhang; Hengfen Li; Shaohong Zou

    2011-01-01

    Purpose. Depression prevalence and risk increase among adolescents are related to biological, psychosocial, and cultural factors. Little is known about the association between cognitive distortion, type D personality, family environment, and depression. The aim of this paper was to examine the relationships of cognitive distortion, type D personality, family environment, and depression in a sample of Chinese adolescents. Methods. A sample of Chinese adolescents with depression and the con...

  9. Doing Ethnographic Research in Chinese Families - Reflections on Methodological Concerns from Two Asian Cities

    Directory of Open Access Journals (Sweden)

    Esther Chor Leng Goh

    2011-09-01

    Full Text Available This paper compares and contrasts the ethnographic practices of two non-native researchers - a Singaporean researcher studying families in mainland China and a Swedish researcher studying Chinese families in Singapore. A novel conceptual frame of ‘radius of observation positions’ has been proposed to explicate the extent of intrusion and intimacy to which researchers may venture in the private family domain. The opportunities and challenges of two positions of observation within this radius are discussed. The choice of position is largely influenced by the interacting forces of the contextual and cultural factors as well as the personhood of the researcher. The authors call for special attention to cultural sensitivity in conducting Chinese family research. Families are embedded in culture, and the possibility of accessing family spaces hinges on one's awareness of the intricacies of family cultures and realistic assessment of one's strengths and limitations in handling complex family dynamics.

  10. Family therapy in the Forbidden City: a review of Chinese journals from 1978 to 2006.

    Science.gov (United States)

    Sim, Timothy; Hu, Chiyi

    2009-12-01

    This article provides a glimpse into the development of family therapy in China, by reviewing family therapy articles written in Chinese and published in journals in China that are not, therefore, readily accessible to the international community. A content analysis of journals published between 1978 and 2006 revealed 199 family therapy articles in 109 Chinese journals. Most of the studies were conducted by psychiatry or medical professionals, and were based on general systems theory or a systemic family therapy model. The articles focused on the promotion of family therapy theories and interventions in China, but did not specify the application of theory to specific clientele or symptoms. After the year 2000, a threefold increase in the number of family therapy publications was noted. These papers included the introduction of additional theories, but did not include critical assessment of the applicability of Western family therapy models to Chinese families. The researchers noted an absence of articles that identified Chinese approaches to family therapy, and a paucity of papers on gender, professional reflection, and the therapy process. The article concludes that there is room for improvement in the quality of family therapy publications in China, and that gains may be made by interdisciplinary collaboration among academics and practitioners.

  11. Association between Cognitive Distortion, Type D Personality, Family Environment, and Depression in Chinese Adolescents.

    Science.gov (United States)

    Zhang, Yong; Li, Hengfen; Zou, Shaohong

    2011-01-01

    Purpose. Depression prevalence and risk increase among adolescents are related to biological, psychosocial, and cultural factors. Little is known about the association between cognitive distortion, type D personality, family environment, and depression. The aim of this paper was to examine the relationships of cognitive distortion, type D personality, family environment, and depression in a sample of Chinese adolescents. Methods. A sample of Chinese adolescents with depression and the controls were investigated cross-sectionally with life orientation test-revised (LOT-R), type D personality Scale-14 (DS14), family environment scale (FES), and Zung self-depression scale (SDS); respectively, all scales were administered in Chinese. Results. Chinese-depressed adolescents showed more cognitive distortion, type D personality, and adverse family environment than control groups. Furthermore, lower level of Optimism, negative affectivity, and poor family cohesion may increase the risk of depression in Chinese adolescents. Conclusions. Our study indicates that lower level of Optimism, Negative Affectivity, and poor Family Cohesion factors were implicated to contribute to depression in Chinese adolescents. Lower level of optimism and negative affectivity may be crucial associated factors of depression among these samples. our findings pointed to the importance of broad screening and intervention of vulnerable population.

  12. Towards Homogeneity in Home Languages: Malay, Chinese Foochow and Indian Tamil Families in Kuching, Sarawak, Malaysia

    Science.gov (United States)

    Ting, Su-Hie; Mahadhir, Mahanita

    2009-01-01

    This preliminary study examines the languages used by parents with their children in Malay, Chinese Foochow and Indian Tamil families to find out how the similarity or dissimilarity in parents' ethnic language influenced the choice of language transmitted to children and how far standard languages have permeated the family domain in Kuching City…

  13. Understanding Chinese American Adolescents' Developmental Outcomes: Insights from the Family Stress Model

    Science.gov (United States)

    Benner, Aprile D.; Kim, Su Yeong

    2010-01-01

    In this brief report, we investigated whether the Family Stress Model could be replicated with a sample of Chinese American families. Path analyses with 444 adolescents and their parents provided support for the model's generalizability. Specifically, mothers' and fathers' reports of economic status (i.e., income, financial, and job instability)…

  14. Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases

    NARCIS (Netherlands)

    Zhang, J.X.; Fu, L.; Voer, R.M. de; Hahn, M.M.; Jin, P.; Lv, C.X.; Verwiel, E.T.; Ligtenberg, M.J.L.; Hoogerbrugge, N.; Kuiper, R.P.; Sheng, J.Q.; Geurts van Kessel, A.H.M.

    2015-01-01

    AIM: To investigate whether whole-exome sequencing may serve as an efficient method to identify known or novel colorectal cancer (CRC) predisposing genes in early-onset or familial CRC cases. METHODS: We performed whole-exome sequencing in 23 Chinese patients from 21 families with non-polyposis CRC

  15. Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families

    Institute of Scientific and Technical Information of China (English)

    Qi Cai; Meng-Hong Sun; Hong-Fen Lu; Tai-Ming Zhang; Shan-Jing Mo; Ye Xu; San-Jun Cai; Xiong-Zeng Zhu; Da-Ren Shi

    2001-01-01

    AIM: To study the clinicopathological and molecular genetic characteristics of typical Chinese hereditary nonpolyposis cotorectal cancer (HNPCC) families. METHODS: Four typical Chinese HNPCC families were analyzed using microdissection, microsatellite instability analysis, immunostaining of hMSH2 and hMLH1 proteins and direct DNA sequencing of hMSH2 and hMLH1 genes. RESULTS: All five tumor tissues of 4 probands from the 4typical Chinese HNPCC families showed microsatellite instability at more than two loci (MSI-H or RER +phenotype). Three out of the 4 cases lost hMSH2 protein expression and the other case showed no hMLH1 protein expression. Three pathological germline mutations (2 in hMSH2 and 1 in hMLH1 ), which had not been reported previously, were identified. The same mutations were also found in otler affected members of two HNPCC families,respectively. CONCLUSION: Typical Chinese HNPCC families showed relatively frequent germline mutation of mismstch repair genes. High-level microsateliita instability and loss of expression of mismatch repair genes correlated closely with germline mutation of mismatch repair genes. Microsatellite instability analysis and immunostaining of miamstch repair gens might serve as effective screening methods before direct DNA sequencing. It is necessary to establish clinical criteria and molecular diagnostic strategies more suitable for Chinese HNPCC families.

  16. Family Material Hardship and Chinese Adolescents’ Problem Behaviors: A Moderated Mediation Analysis

    OpenAIRE

    Wenqiang Sun; Dongping Li; Wei Zhang; Zhenzhou Bao; Yanhui Wang

    2015-01-01

    In the current study, we examined a moderated mediation model using the risk and resilience framework. Specifically, the impact of family material hardship on adolescent problem behaviors was examined in a Chinese sample; we used the family stress model framework to investigate parental depression and negative parenting as potential mediators of the relation between family material hardship and adolescents' problem behaviors. In addition, based on resilience theory, we investigated adolescent...

  17. Pulmonary Atypical Adenomatous Hyperplasia And Bronchioloalveolar Carcinoma

    Institute of Scientific and Technical Information of China (English)

    MeilinXu; XiaYang; ZhiyaoZhang

    2004-01-01

    OBJECTIVE To study the relationship between atypical adenomatous hyperplasia (AAH) and bronchioloalveolar carcinoma (BAC). METHODS Morphometric, immunohistochemical and ultrastructural analyses were performed in 4 patients with low grade AAH, 5 with high grade AAH and 7 with BAC. RESULTS The mean nuclear areas of high grade AAH and BAC were greater than those of low grade AAH (P<0.05); p53 protein expression was negative in 4 cases of low grade AAH,while the positive rates in high grade AAH and BAC were 40% (2/5) and 57% (4/7), respectively. CONCLUSION The development of BAC is stepwise. AAH appears to be a lesion closely related with BAC, probably as its genuine precursor.

  18. Economic development with limited supplies of family labor: Chinese peasant families in balancing demographic and economic requisites.

    Science.gov (United States)

    Chang, K S

    1991-07-01

    Family planning (FP) in rural China, particularly the ramifications of the 1-child policy, has profound implications and ramifications for family-centered social and economic life in addition to demographic control. Under a constitutionally endorsed policy of strict birth control, favorable economic opportunities coexisted with the problem of familial labor shortages. Recent reform policies have led to a more relaxed FP environment. The Chinese state is in a dilemma between the need to allow peasant's autonomy in determining the familial work situation and the population pressure on the limited cultivated land. The Chinese experience of rural reform is examined in terms of the complex relationship between population change and economic development which are influenced by the production and welfare activities of the peasant family. The theoretical argument is that a family reliant strategy of economic reform undercuts the effectiveness of population control programs. The ultimate solution lies with sustained industrialization with high labor absorption. National trends and the Dahe People's Commune/Township experience are analyzed. Discussion is focused on the dilemma of FP and family production, old and new evidence of family size and economic performance, welfare outcome of family size, the role of the state in altering the demographic balance sheet, and the strategic response of peasant families to bring families of old designs back and urban migration and proletarianization. It is concluded that there is growing understanding that the causal relationships between population growth and economic development do not clearly support universal population control. Human social organization, not the man/land ratio, shapes the consequences of population growth. The implications for the Malthusian vs. Marxian debate for developing countries are that the resources/population imbalance needs to consider more carefully the human organizational factors. Mao's notions that a

  19. Clinical features of familial adenomas polyps in Chinese and establishment of its immortal lymphocyte cell lines

    Institute of Scientific and Technical Information of China (English)

    Shan-Rong Cai; Su-Zhang Zhang; Shu Zheng

    2007-01-01

    AIM:To reserve the rare Chinese familial adenomas polyp (FAP) family resource and to investigate the clinical features of FAP in Chinese for its diagnosis.METHODS: Clinical features of patients with FAP were investigated. If there is any question, their medical records were verified. Blood sample was taken and lymphocyte immortal cell lines were established with modified EB-transformation methods. Congenital hypertrophy of retinal pigment epithelium (CHRPE) was checked by an experienced ophthalmologist.RESULTS: Twenty seven families including 21 classical FAP (CFAP) families, 3 attenuated FAP (AFAP) families,and 3 suspected AFAP families were investigated. A total of 116 lymphocyte immortal cell lines were established from 26 families. In all the FAP families, colorectal cancer occurred at the mean age of 42.84 years. Of the 16 families checked, 15 (93.75%) had CHRPE. The mean number of patients suffering from colorectal neoplasm was 3.14 in CFAP families and 2.0 in AFAP families (P < 0.01). The mean oldest age at diagnosis of FAP was 41.75 years in CFAP families, and 58.67 years in AFAP families, respectively (P < 0.01). Mean age of development of colorectal cancer was 42.23 in CFAP and 57.33 years old in AFAP (P < 0.01). Mean of the earliest age at diagnosis of FAP was 29.95 years in the FAP families with a positive family history and 46.80 years in the FAP families with a negative family history (P <0.01). The ratio of extra-intestinal tumors to colorectal neoplasms was different in the two kinds of families with positive and negative family history (P < 0.01).CONCLUSION: Additional use of ciclosporin will effectively improve to establish lymphocyte immortal cell lines with modified EB- transformation methods. In Chinese FAP, there was a high frequency of CHRPE, and a later age at diagnosis and a later age of development of colorectal cancer in AFAP. And earlier age at diagnosis in FAP with positive family history was also found that will help to

  20. Intergenerational and Urban-Rural Health Habits in Chinese Families

    Science.gov (United States)

    Li, Li; Lin, Chunqing; Cao, Haijun; Lieber, Eli

    2009-01-01

    Objective: To explore intergenerational health habits and compare differences between urban and rural families. Methods: A total of 2500 families with children ages 6-18 in China were surveyed regarding their health habits. Results: Urban families reported significantly greater food variety and more time exercising (for fathers and children) than…

  1. Cultural and Family Challenges to Managing Type 2 Diabetes in Immigrant Chinese Americans

    OpenAIRE

    2009-01-01

    OBJECTIVE Although Asians demonstrate elevated levels of type 2 diabetes, little attention has been directed to their unique cultural beliefs and practices regarding diabetes. We describe cultural and family challenges to illness management in foreign-born Chinese American patients with type 2 diabetes and their spouses. RESEARCH DESIGN AND METHODS This was an interpretive comparative interview study with 20 foreign-born Chinese American couples (n = 40) living with type 2 diabetes. Multiple ...

  2. Across Cultural and National Borders: Diasporic Chinese Family in Pushing Hands

    Directory of Open Access Journals (Sweden)

    Qijun Han

    2011-08-01

    Full Text Available Being embedded in the interdisciplinary area of media and culture studies, this articlel explores the family melodrama in transnational Chinese cinema drawing upon theoretical discussions with regard to the historical emergence of melodrama in correspondence to, as Th. Elsaesser says, “periods of intense social and ideological crisis”. While serving as a reflection on the tension between tradition and modernity displayed in the domestic domain, Ang Lee’s Chinese-characterized family melodrama also illustrates the differences between Chinese and Hollywood family melodrama. Linked to the ongoing debate about “melodrama as a cross-cultural form”, in the process of analyzing the film text, our perceptions of generic dislocation or displacement, transcultural entanglements and globalization in light of contemporary cultural practices will be furthermore complicated.  

  3. Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita

    Directory of Open Access Journals (Sweden)

    Gao Feng

    2010-12-01

    Full Text Available Myotonia congenita (MC is a genetic disease characterized by mutations in the muscle chloride channel gene (CLCN1. To date, approximately 130 different mutations on the CLCN1 gene have been identified. However, most of the studies have focused on Caucasians, and reports on CLCN1 mutations in Chinese population are rare. This study investigated the mutation of CLCN1 in two Chinese families with MC. Direct sequencing of the CLCN1 gene revealed a heterozygous mutation (892G>A, resulting in A298T in one family and a compound heterozygous mutations (782A>G, resulting in Y261C; 1679T>C, resulting in M560T in the other family, None of the 100 normal controls had these mutations. Our findings add more to the available information on the CLCN1 mutation spectrum, and provide a valuable reference for studying the mutation types and inheritance pattern of CLCN1 in the Chinese population.

  4. Chinese Rural Women’s Decision-Making Status in Family

    Institute of Scientific and Technical Information of China (English)

    1996-01-01

    THE decision-making status of rural women in families is an important aspect which reflects the degree of their participation in development. Implementation of the Nairobi Forward-Looking Strategies for the Advancement of Women represent over the past 10 years has witnessed the gradual maturation of the production-related contract responsibility system in Chinese rural areas. Family functions have been further strengthened in both productive and social development in basic units such as production, consumption and trade. The period has been an important time for the rapid development of Chinese township

  5. High prevalence of diabetes mellitus in a five-generation Chinese family with Huntington's disease.

    Science.gov (United States)

    Hu, Yueqing; Liang, Jingyao; Yu, Shengyuan

    2014-01-01

    Huntington's disease (HD) is associated with diabetes mellitus (DM) in population studies, but no case has been reported in a large HD family. We report a case of a five-generation Chinese family who is afflicted by both HD and DM. The prevalence of DM in HD of this family was high (72.7%). The diagnosis of HD in 11 family members was confirmed by the genetic test of the proband who had 42 CAG repeats. Furthermore, the proband's daughter had abnormal locus at G3460T in MT-ND1 among mtDNA genome. Our case report suggests a genetic link between HD and DM.

  6. Vision improvement in a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Lin, Hong-Zin; Pang, Cheng-Yoong; Chen, Shee-Ping; Tsai, Rong-Kung

    2012-12-01

    In this report, we describe a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy. The family carried a mitochondrial DNA mutation (mtDNA m.14484T>C) associated with spontaneous visual improvement. A 15-year-old boy from this family was diagnosed with Leber's hereditary optic neuropathy 6 months after losing his vision. His vision recovered after 8 months of supportive treatment. His mother, older brother, and two sisters also had the same mutation and had previously experienced vision loss. In this family, there was no male predominance.

  7. Intergenerational discrepancies of parental control among Chinese American families: Links to family conflict and adolescent depressive symptoms.

    Science.gov (United States)

    Juang, Linda P; Syed, Moin; Takagi, Miyuki

    2007-12-01

    This study investigated how discrepancies between adolescents' and parents' endorsement of parental control contribute to adolescent depressive symptoms. Family conflict was hypothesized to mediate the link between parent-adolescent discrepancies and depressive symptoms. The sample consisted of 166 pairs of Chinese American adolescents and their parents. The results indicated that, as predicted, greater discrepancies between adolescents and their parents on parental control related to greater adolescent depressive symptoms. Furthermore, adolescent's perceived degree of family conflict partially mediated this relation. Both parents and adolescents are changing and adapting to their cultural contexts; some in synchrony and some not. Identifying areas where parents and adolescents diverge concerning values, behaviors, and beliefs, is an important avenue to understanding Chinese American adolescents' mental health.

  8. Factor Structure and Psychometric Properties of the Work-Family Balance Scale in an Urban Chinese Sample

    Science.gov (United States)

    Zhang, Huiping; Yip, Paul S. F.; Chi, Peilian; Chan, Kinsun; Cheung, Yee Tak; Zhang, Xiulan

    2012-01-01

    The purpose of this study was to explore the factor structure of the Work-Family Balance Scale (WFBS) and examine its reliability and validity in use in the urban Chinese population. The scale was validated using a sample of 605 urban Chinese residents from 7 cities. Exploratory factor analysis identified two factors: work-family conflict and…

  9. Understanding Chinese American Adolescents’ Developmental Outcomes: Insights From the Family Stress Model

    OpenAIRE

    Benner, Aprile D.; Kim, Su Yeong

    2010-01-01

    In this brief report, we investigated whether the Family Stress Model could be replicated with a sample of Chinese American families. Path analyses with 444 adolescents and their parents provided support for the model’s generalizability. Specifically, mothers’ and fathers’ reports of economic status (i.e., income, financial and job instability) were associated with parents’ economic stress. Economic stress and economic status were related to parental depressive symptoms, which, in turn, were ...

  10. TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

    Science.gov (United States)

    Zhang, Yu; Gan, Jing; Pu, Zheng; Xu, Ming ming; Wang, Li feng; Li, Yu hua; Liu, Zhen guo

    2015-06-01

    Tuberous sclerosis complex is a rare autosomal dominant disorder caused by mutations in either of TSC1 and TSC2 genes. Tuberous sclerosis complex presents diverse clinical characteristics, and either of TSC1 and TSC2 genes shows a wide range of mutations in their coding regions. However, the correlation between genotype and phenotype is yet unknown. We describe the clinical characteristics of a Chinese family with TSC1 gene mutation and present a literature review of Chinese patients with tuberous sclerosis complex gene mutation reported since 2004. This is the first report of TSC1 R509X mutation in a Chinese family, which might deepen our insight into the clinical and molecular pathogenesis of tuberous sclerosis complex.

  11. Chinese traders in Serbia: Gender opportunities, translocal family strategies, and transnational mobility

    Directory of Open Access Journals (Sweden)

    Maja Korać-Sanderson

    2013-12-01

    In this paper I focus on Chinese trading migration to Serbia. I argue that in choosing destinations for their businesses Chinese traders increasingly opt for underdeveloped regions and transition societies not because they provide good business opportunities measured by economic indicators alone. Rather, these destinations are chosen because they provide better opportunities for an entrepreneurial life embedded in self-reliance and self-management. Some of these opportunities, as my discussion will demonstrate, are importantly gendered, opening up new gender space for young families and for women in particular. My discussion will further point out that because business opportunities in Serbia do not necessarily imply desirable living conditions, Chinese traders diversify their family strategies, which are translocally and transnationally negotiated. In doing so, I argue, they become protagonists, actively involved in establishing their livelihoods and flexible ways of incorporation.

  12. Co-Ethnic Network, Social Class, and Heritage Language Maintenance among Chinese Immigrant Families

    Science.gov (United States)

    Zhang, Donghui

    2012-01-01

    This ethnographic study investigated heritage language maintenance among two distinct groups of Chinese immigrant families (Mandarin and Fujianese) from the social network perspective. The results indicated that a co-ethnic network could be a double-edged sword, which works differently on children from different social classes. While the Mandarin…

  13. Understanding Hong Kong Chinese Families' Experiences of an Autism/ASD Diagnosis

    Science.gov (United States)

    Tait, Kathleen; Fung, Francis; Hu, Aihua; Sweller, Naomi; Wang, Wei

    2016-01-01

    Little is known about the experience of Chinese parents of children diagnosed with autism spectrum disorders (ASD) living in the Hong Kong Special Administrative Region. Seventy-five parents of children (aged 6 months-18 years) with ASD diagnoses completed the Family Quality of Life Scale. Forty-five parents from the original surveyed cohort, also…

  14. Parent-Child Cultural Orientations and Child Adjustment in Chinese American Immigrant Families

    Science.gov (United States)

    Chen, Stephen H.; Hua, Michelle; Zhou, Qing; Tao, Annie; Lee, Erica H.; Ly, Jennifer; Main, Alexandra

    2014-01-01

    Direct and indirect/mediated relations of (a) children's and parents' cultural orientations and (b) parent-child gaps in cultural orientations to children's psychological adjustment were examined in a socioeconomically diverse sample of 258 Chinese American children (age = 6-9 years) from immigrant families. Parents reported on…

  15. Early Predictors of Dyslexia in Chinese Children: Familial History of Dyslexia, Language Delay, and Cognitive Profiles

    Science.gov (United States)

    McBride-Chang, Catherine; Lam, Fanny; Lam, Catherine; Chan, Becky; Fong, Cathy Y. C.; Wong, Terry T. Y.; Wong, Simpson W. L.

    2011-01-01

    Background: This work tested the rates at which Chinese children with either language delay or familial history of dyslexia at age 5 manifested dyslexia at age 7, identified which cognitive skills at age 5 best distinguished children with and without dyslexia at age 7, and examined how these early abilities predicted subsequent literacy skills.…

  16. Perceived Treatment Effectiveness of Family Therapy for Chinese Patients Suffering from Anorexia Nervosa: A Qualitative Inquiry

    Science.gov (United States)

    Ma, Joyce L. C.; Lai, Kelly

    2006-01-01

    Although family therapy has become highly acceptable in the West, its applicability and acceptability for Chinese adolescents and young women with anorexia nervosa (AN) remains unknown. In this article, we report the results of a qualitative study using post-treatment in-depth interviews to understand the subjective perceptions of sufferers of AN…

  17. Job Insecurity and Remuneration in Chinese Family-Owned Business Workers

    Science.gov (United States)

    Hu, Qiao; Schaufeli, Wilmar B.

    2011-01-01

    Purpose: The purpose of this paper is to study the impact of job insecurity (past job downsizing and anticipated job downsizing) and current remuneration--via wellbeing (burnout and work engagement)--on organizational outcomes (organization commitment and low turnover intention) of Chinese family-owned business. Design/methodology/approach: The…

  18. Family Life Quality and Emotional Quality of Life in Chinese Adolescents with and without Economic Disadvantage

    Science.gov (United States)

    Shek, Daniel T. L.; Lee, T. Y.

    2007-01-01

    Chinese secondary school students (N = 2758) responded to measures of perceived family life quality (parenting quality and parent-child relational quality) and emotional quality of life (hopelessness, mastery, life satisfaction and self-esteem). Parenting quality included different aspects of parental behavioral control (parental knowledge,…

  19. Gene mapping of autosomal dominant retinitis pigmentosa in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    DAI Li-li; SUN Da-wei; WANG Zheng; FU Song-bin; HUANG Shang-zhi; ZHANG Zhong-yu; ZENG Guang; PENG Shao-min

    2009-01-01

    Background The autosomal dominant form of retinitis pigmentosa (ADRP) can be caused by mutations in 14 genes and further loci remains to be identified. This study was intended to identify mutations in a Chinese pedigree with ADRP. Methods A large Chinese family with retinitis pigmentosa was collected. The genetic analysis of the family suggested an autosomal dominant pattern. Microsatellite (STR) markers tightly linked to genes known to be responsible for ADRP were selected for linkage analysis. Exons along with adjacent splice junctions of PRPF31 were amplified by polymerase chain reaction (PCR) and screened by direct sequencing.Results The caused gene of ADRP was mapped to 19q13.4 between markers D19S572 and D19S877, with a maximum LOD score of 3.01 at marker D19S418 (recombination fraction=0).Conclusion The affected gene linked to the 19q13.4 in a Chinese family with ADRP, which is different from other mutations at the same loci in other Chinese families.

  20. Transnational business and family strategies among Chinese/Nigerian couples in Guangzhou and Lagos

    NARCIS (Netherlands)

    Lan, S.

    2015-01-01

    Based on ethnographic fieldwork in Guangzhou and Lagos, this paper explores transnational trade activities and family strategies among Chinese/Nigerian interracial couples in the context of growing China/Africa trade relations and the recent tightening of China's immigration control. It examines how

  1. Rapidly progressive adenomatous polyposis in a patient with germline mutations in both the APC and MLH1 genes : the worst of two worlds

    NARCIS (Netherlands)

    Scheenstra, R; Rijcken, FEM; Koornstra, JJ; Hollema, H; Fodde, R; Menko, FH; Sijmons, RH; Bijleveld, CMA; Kleibeuker, JH

    2003-01-01

    The two most common inherited forms of colorectal cancer are familial adenomatous polyposis and hereditary non-polyposis colorectal cancer. Simultaneous inheritance of both an APC gene mutation and a mismatch repair gene (for example, MLH1) mutation has never been described. In the present case repo

  2. Rapidly progressive adenomatous polyposis in a patient with germline mutations in both the APC and MLH1 genes: the worst of two worlds.

    NARCIS (Netherlands)

    Scheenstra, R; Rijcken, FE; Koornstra, JJ; Hollema, H; Fodde, R; Menko, F.H.; Sijmons, RH; Bijleveld, CM; Kleibeuker, J.H.

    2003-01-01

    The two most common inherited forms of colorectal cancer are familial adenomatous polyposis and hereditary non-polyposis colorectal cancer. Simultaneous inheritance of both an APC gene mutation and a mismatch repair gene (for example, MLH1) mutation has never been described. In the present case repo

  3. Association between Family Structure and Physical Activity of Chinese Adolescents

    Directory of Open Access Journals (Sweden)

    Lijuan Wang

    2016-01-01

    Full Text Available Background. This study examines the association between family structure and moderate-to-vigorous physical activity (MVPA of adolescents in China. Methods. The participants included 612 adolescents (317 boys and 295 girls from Shanghai with ages ranging from 10 to 16 years. Accelerometers were used to measure the duration of MVPA of adolescents, and questionnaires on family structure were completed by the parents of these adolescents. Results. Findings suggested that family structure significantly increased the likelihood of adolescents engaging in physical activity (PA and explained 6% of MPVA variance. Adolescents living in single-parent households and step families were more physically active than those living in two-parent homes and with biological parents, respectively. However, adolescents residing with grandparents were less active than those living with neither grandparent. No significant difference was found in MVPA time between adolescents living with one sibling and those without siblings. Conclusion. Family environment may be considered in the development of PA interventions and policies, and adolescents living with their grandparents may be targeted in PA promotion.

  4. Mitochondrial gene mutations and type 2 diabetes in Chinese families

    Institute of Scientific and Technical Information of China (English)

    LI Ming-zhen; YU De-min; YU Pei; LIU De-min; WANG Kun; TANG Xin-zhi

    2008-01-01

    Background Numerous mitochondrial DNA mutations are significantly correlated with development of diabetes. This study investigated mitochondrial gene, point mutations in patients with type 2 diabetes and their families. Methods Unrelated patients with type 2 diabetes(n=826)were randomly recruited; unrelated and nondiabetic subjects (n=637)served as controls. The clinical and biochemical data of the participants were collected. Total genome was extracted from peripheral leucocytes. Polymerase chain reaction, restriction fragment length polymorphism (PCR-RFLP)and clonig techniques were used to screen mitochondrial genes including np3316,np3394 and np3426 in the ND1 region and np3243 in the tRNALeu (UUR). Results In 39 diabetics with one or more mitochondrial gene point mutations, the prevalence(4.7%,39/826)of mtDNA mutations was higher than that(0.7%,5/637)in the controls. The identical mutation was found in 23 of 43 tested members from three pedigrees. Affected family members presented with variable clinical features ranging from normal glucose tolerance to impaired glucose tolerance (IGT)(n=2),impaired fasting glucose(IFG)(n=1)to type 2 diabetes (n=13)with 3 family members suffering from hearing loss. Conclusions Type 2 diabetes in China is associated with several mitochondrial gene mutations. Aged patients with diabetic family history had a higher prevalence of mutation and various clinical pictures. Mitochondrial gene mutation might be one of the genetic factors contributing to diabetic familial clustering.

  5. Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.

    Science.gov (United States)

    Yin, Xiaobei; Yang, Liping; Chen, Ningning; Cui, Hui; Zhao, Lin; Feng, Lina; Li, Aijun; Zhang, Huirong; Ma, Zhizhong; Li, Genlin

    2016-05-01

    Bietti crystalline corneoretinal dystrophy (BCD) is an inherited eye disease that is most common in the Chinese. It is caused by a mutation in the CYP4V2 gene. In this study, 43 Chinese BCD families were recruited; most patients manifested the characteristic phenotype of BCD, with 2 families initially misdiagnosed with retinitis pigmentosa. Five patients in our cohort presented with BCD and choroidal neovascularization (CNV), and 1 patient presented with typical BCD and abnormality in the terminals of both fingers and toes. A total of 17 pathogenic mutations involving 68 alleles were identified from 36 families using targeted exon sequencing and Sanger sequencing; we achieved a diagnostic rate of approximately 84%. Fifteen families were found to carry homozygous mutations, 17 families carried compound heterozygous mutations, and 4 families carried a single heterozygous mutation. Of the mutations identified, four variants c.802-8_810del17bpinsGC, c.802-8_810del17bpinsGT, c.992A > C (p.H331P), and c.1091-2A > G accounted for 71% of the mutations identified in CYP4V2. These mutations were hotspots in Chinese populations for BCD. Five among them were novel and predicted to be disease-causing, including c.65T > A (p.L22H), c.681_4delTGAG (p.S227Rfs*1), c.802-8_810del17bpinsGT, c.965_7delAAG (p.321delE), and c.994G > A (p.D332N). No apparent correlation between genotype and phenotype was identified. Our findings broaden the spectrum of CYP4V2 mutations that cause BCD and the phenotypic spectrum of the disease in Chinese families. These results will be useful for the genetic diagnosis of BCD, genetic consultation, and gene therapy in the future.

  6. Culture- and Immigration-Related Stress Faced by Chinese American Families with a Patient Having Schizophrenia.

    Science.gov (United States)

    Kung, Winnie W

    2016-07-01

    The impact of culture and immigration on the experience of Chinese American families with a member having schizophrenia is explored within the frameworks of family systems and stress and coping. This qualitative study was conducted within an intervention study of family psychoeducation using therapists' session notes from 103 family sessions and 13 relatives' group sessions from nine patients and 19 relatives. The high stigma attached to mental illness leading to social isolation, and families' devotion to caregiving exacerbated caregiver burden. Taboo against discussing dating and sexuality and the consideration of arranged marriages caused unique stress. The insecurity as immigrants and shortage of bilingual services were related to greater enmeshment within these families. Implications on research methodology and practice are discussed.

  7. The Development of Children's Ethnic Identity in Immigrant Chinese Families in Canada: The Role of Parenting Practices and Children's Perceptions of Parental Family Obligation Expectations

    Science.gov (United States)

    Su, Tina F.; Costigan, Catherine L.

    2009-01-01

    Parents' role in children's ethnic identity development was examined among 95 immigrant Chinese families with young adolescents living in Canada. Children reported their feelings of ethnic identity and perceptions of parental family obligation expectations. Parents reported their family obligation expectations; parents and children reported on…

  8. Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy.

    Directory of Open Access Journals (Sweden)

    Houfa Yin

    Full Text Available PURPOSE: To investigate the clinical features and cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2 gene mutations in 14 Chinese families with Bietti crystalline dystrophy (BCD. METHODS: Seventeen patients from 14 unrelated Chinese families with BCD were recruited for complete clinical ophthalmic examination and genetic study. The 11 exons of CYP4V2 were amplified from genomic DNA of all patients and their family members by polymerase chain reaction (PCR and then sequenced. Exons of TIMP3 were also sequenced in BCD patient associated with choroidal neovascularization (CNV. One hundred and seventy unrelated healthy Chinese subjects were screened for mutations in CYP4V2. RESULTS: All 17 patients with BCD had mutations in CYP4V2; one of these mutations was novel (c.219T>A, p.F73L and four other mutations had been reported. The p.F73L mutation was a commonly detected mutation in our study (seven out of 34 alleles, either in the homozygous state or in the heterozygous state. Among the patients, considerable phenotypic variability was detected, both within and between families. Screening of TIMP3 did not find any mutation in the BCD patient associated with CNV. CONCLUSION: The novel CYP4V2 c.219T>A (p.F73L mutation may be another recurrent mutation in Chinese patients with BCD. Our study expands the mutation spectrum of CYP4V2 and characterizes novel genotype-phenotype associations in Chinese patients with BCD.

  9. Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Qing-lin [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Xu, Jia [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Medical College of Soochow University, Suzhou, Jiangsu province 215000 (China); Zhang, Zeng [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); He, Jin-wei [Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Lu, Lian-song [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Medical College of Soochow University, Suzhou, Jiangsu province 215000 (China); Fu, Wen-zhen [Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Zhang, Zhen-lin, E-mail: zzl2002@medmail.com.cn [Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China)

    2012-07-13

    Highlights: Black-Right-Pointing-Pointer In our study, all of the patients were of Han Chinese ethnicity, which were rarely reported. Black-Right-Pointing-Pointer We identified three novel PHEX gene mutations in four unrelated families with XLH. Black-Right-Pointing-Pointer We found that the relationship between the phenotype and genotype of the PHEX gene was not invariant. Black-Right-Pointing-Pointer We found that two PHEX gene sites, p.534 and p.731, were conserved. -- Abstract: Background: X-linked hypophosphatemia (XLH), the most common form of inherited rickets, is a dominant disorder that is characterized by renal phosphate wasting with hypophosphatemia, abnormal bone mineralization, short stature, and rachitic manifestations. The related gene with inactivating mutations associated with XLH has been identified as PHEX, which is a phosphate-regulating gene with homologies to endopeptidases on the X chromosome. In this study, a variety of PHEX mutations were identified in four Chinese families with XLH. Methods: We investigated four unrelated Chinese families who exhibited typical features of XLH by using PCR to analyze mutations that were then sequenced. The laboratory and radiological investigations were conducted simultaneously. Results: Three novel mutations were found in these four families: one frameshift mutation, c.2033dupT in exon 20, resulting in p.T679H; one nonsense mutation, c.1294A > T in exon 11, resulting in p.K432X; and one missense mutation, c.2192T > C in exon 22, resulting in p.F731S. Conclusions: We found that the PHEX gene mutations were responsible for XLH in these Chinese families. Our findings are useful for understanding the genetic basis of Chinese patients with XLH.

  10. Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families

    Institute of Scientific and Technical Information of China (English)

    Xu-Lin Wang; Ying Yuan; Su-Zhan Zhang; Shan-Rong Cai; Yan-Qin Huang; Qiang Jiang; Shu Zheng

    2006-01-01

    AIM: To analyze the clinical characteristics of Chinese hereditary nonpolyposis colorectal cancer (HNPCC) families and to screen the germline mutations of human mismatch repair genes hMLH1 and hMSH2 in the probands.METHODS: Thirty-one independent Chinese HNPCC families were collected in Zhejiang Province. All of them met Chinese HNPCC criteria. Clinical data about patient gender, site of colorectal cancer, age of onset, history of multiple colorectal cancer, associated extracolonic cancer were recorded. PCR and denaturing high performance liquid chromatography (DHPLC) were employed to screen the mutations. Sequencing analysis was used to find out the exact mutation site and characteristics of the samples showing abnormal DHPLC profiles.RESULTS: One hundred and thirty-six malignant neoplasms were found in 107 patients including 14 multiple cancers. One hundred and six of the 136 neoplasms (77.9%) were diagnosed as colorectal cancer, with an average age of onset at 48.57 ± 29.00 years. Gastric cancer was the most common extracolonic cancer (10.3%) in these families. Twenty-three different sequence variations in hMLH1 and hMSH2 genes were detected in these 17 families. Fifteen sequence variations were located in the exons, including 5 SNPs, 3 silent mutations, 3 missense mutations, 2 nonsense mutations and 2 frameshift mutations. The latter seven mutations seemed to be pathogenic.CONCLUSION: Germline mutations of hMLH1 and hMSH2 genes are identified in about one-third HNPCC kindreds fulfilling Chinese HNPCC criteria. Chinese HNPCC families have some particular clinical characteristics, such as a left-sided predominance, less synchronous or metachronous colorectal cancer, and frequent occurrence of gastric cancer.

  11. Family and social environmental factors associated with aggression among Chinese adolescents.

    Science.gov (United States)

    Dou, Chunxia; Wei, Zhen; Jin, Ke; Wang, He; Wang, Xiulan; Peng, Ziwen

    2015-09-01

    Family and school environments are assumed to be associated with and influence aggressive behaviors. However, which specific risk factors within these environments that are associated with aggressive behavior are unclear. The goal of this study is to identify family and social environmental qualities that are related to aggression among Chinese adolescents. Survey data were obtained from 3,213 randomly selected urban high school students ages 10 through 18 in southern China. Lower parental attachment, higher family income, mother's higher education levels, father's parenting goals, rough or changeable parenting styles, unsuitable peer relationships, and inadequate social atmospheres at school serve as risk factors for aggression among Chinese adolescents. Our findings provide some implications for understanding aggression among adolescents and suggests possible interventions to help overcome potential environmental risk factors and thus to prevent aggressive behavior in school.

  12. A Comparative Study of Chinese Family Values and American Family Values Influenced by Mass Media

    Institute of Scientific and Technical Information of China (English)

    张小诗

    2014-01-01

    Different context of mass media between countries can be reflected on the view of family values. In this paper, the au-thor is taking family values as an example to explore the differences between China and America.It is come to a conclusion that mass media have a big influence on family values in both countries.The comparison of different family values also give an inspira-tion to the development of media industry in China.

  13. Parent-Adolescent Discrepancies in Perceived Parenting Characteristics and Adolescent Developmental Outcomes in Poor Chinese Families.

    Science.gov (United States)

    Leung, Janet T Y; Shek, Daniel T L

    2014-01-01

    We examined the relationships between parent-adolescent discrepancies in perceived parenting characteristics (indexed by parental responsiveness, parental demandingness, and parental control) and adolescent developmental outcomes (indexed by achievement motivation and psychological competence) in poor families in Hong Kong. A sample of 275 intact families having at least one child aged 11-16 experiencing economic disadvantage were invited to participate in the study. Fathers and mothers completed the Parenting Style Scale and Chinese Parental Control Scale, and adolescents completed the Social-Oriented Achievement Motivation Scale and Chinese Positive Youth Development Scale in addition to paternal and maternal Parenting Style Scale and Chinese Parental Control Scale. Results indicated that parents and adolescents had different perceptions of parental responsiveness, parental demandingness, and paternal control, with adolescents generally perceived lower levels of parenting behaviors than did their parents. While father-adolescent discrepancy in perceived paternal responsiveness and mother-adolescent discrepancy in perceived maternal control negatively predicted adolescent achievement motivation, mother-adolescent discrepancy in perceptions of maternal responsiveness negatively predicted psychological competence in adolescents experiencing economic disadvantage. The present findings provided support that parent-child discrepancies in perceived parenting characteristics have negative impacts on the developmental outcomes of adolescents experiencing economic disadvantage. The present study addresses parent-child discrepancies in perceived parental behaviors as "legitimate" constructs, and explores their links with adolescent psychosocial development, which sheds light for researchers and clinical practitioners in helping the Chinese families experiencing economic disadvantage.

  14. Examination of Huntington's disease in a Chinese family.

    Science.gov (United States)

    Yu, Mingxia; Li, Xiaogai; Wu, Sanyun; Shen, Ji; Tu, Jiancheng

    2014-02-15

    We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington's disease. Among 17 family members across three generations, four patients (II2, II6, III5, and III9) show typical Huntington's disease, involuntary dance-like movements. Magnetic resonance imaging found lateral ventricular atrophy in three members (II2, II6, and III5). Moreover, genetic analysis identified abnormally amplified CAG sequence repeats (> 40) in two members (III5 and III9). Among borderline cases, with clinical symptoms and brain imaging features of Huntington's disease, two cases were identified (II2 and II6), but shown by mutation analysis for CAG expansions in the important transcript 15 gene, to be non-Huntington's disease. Our findings suggest that clinical diagnosis of Huntington's disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.

  15. Examination of Huntington’s disease in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    Mingxia Yu; Xiaogai Li; Sanyun Wu; Ji Shen; Jiancheng Tu

    2014-01-01

    We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington’s disease. Among 17 family members across three generations, four patients (II2, II6, III5, and III9) show typical Huntington’s disease, involuntary dance-like movements. Mag-netic resonance imaging found lateral ventricular atrophy in three members (II2, II6, and III5). Moreover, genetic analysis identiifed abnormally ampliifed CAG sequence repeats (>40) in two members (III5 and III9). Among borderline cases, with clinical symptoms and brain imaging features of Huntington’s disease, two cases were identiifed (II2 and II6), but shown by mutation analysis for CAG expansions in the important transcript 15 gene, to be non-Huntington’s disease. Our ifndings suggest that clinical diagnosis of Huntington’s disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.

  16. Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk.

    Science.gov (United States)

    Wong, Hui-Lee; Peters, Ulrike; Hayes, Richard B; Huang, Wen-Yi; Schatzkin, Arthur; Bresalier, Robert S; Velie, Ellen M; Brody, Lawrence C

    2010-09-01

    While germline mutations in the adenomatous polyposis coli (APC) gene cause the hereditary colon cancer syndrome (familial adenomatous polyposis (FAP)), the role of common germline APC variants in sporadic adenomatous polyposis remains unclear. We studied the association of eight APC single nucleotide polymorphisms (SNPs), possibly associated with functional consequences, and previously identified gene-environment (dietary fat intake and hormone replacement therapy (HRT) use) interactions, in relation to advanced colorectal adenoma in 758 cases and 767 sex- and race-matched controls, randomly selected from the screening arm of the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial. Cases had at least one verified advanced adenoma of the distal colon; controls, a negative sigmoidoscopy. We did not observe an association between genotypes for any of the eight APC SNPs and advanced distal adenoma risk (P(global gene-based)=0.92). Frequencies of identified common haplotypes did not differ between cases and controls (P(global haplotype test)=0.97). However, the risk for advanced distal adenoma was threefold higher for one rare haplotype (cases: 2.7%; controls: 1.6%) (odds ratio (OR)=3.27; 95% confidence interval (CI)=1.08-9.88). The genetic association between D1822V and advanced distal adenoma was confined to persons consuming a high-fat diet (P(interaction)=0.03). Similar interactions were not observed with HRT use. In our large, nested case-control study of advanced distal adenoma and clinically verified adenoma-free controls, we observed no association between specific APC SNPs and advanced adenoma. Fat intake modified the APC D1822V-adenoma association, but further studies are warranted.

  17. Clinical features and linkage analysis for a Chinese family with autosomal dominant central areolar choroidal dystrophy

    Institute of Scientific and Technical Information of China (English)

    MA Kai; LIU Ning-pu; YANG Xiu-fen; HAN Cui; ZHANG Ning; XU Jun; LIU Shou-bin; LU Hal; Torkel Snellingen; WANG Ning-li

    2009-01-01

    Background A Chinese family with autosomal dominant central areolar choroidal dystrophy (CACD) was identified.The purpose of this study was to collect the clinical findings from the family and to identify the genetic entity by linkage nalysis.Methods Forty-three individuals from 3 generations of the family underwent ophthalmologic examinations, including best-corrected visual acuity, examination of the anterior segments, and inspection of the ocular fundus after pharmacologic mydriasis. Affected family members further underwent color vision test, color fundus photography,fluorescein angiography, automated perimetry, and electroretinography. The family was followed up for 30 months.Peripheral venous blood or buccal swabs were collected from each family member and genomic DNA was extracted.Linkage analysis was performed for candidate genes or loci using microsatellite markers.Results Seven family members in 3 continuous generations were diagnosed as having autosomal dominant CACD.The family showed progressive development of the disease, affecting both male and female. Age of onset of visual disturbances varied between 11 and 50 years. Phenotypic variability among affected individuals was apparent and ranged from relatively normal-appearing fundus with mild parafoveal pigment mottling to geographic atrophy of the macula. Fluorescein angiography showed hyperfluorescent parafoveal changes in early stage or well-demarcated area of chorioretinal atrophy with enhanced visibility of the residual underlying choroidal vessels in the late stage. Peripheral retina and visual fields were normal in affected individuals. Electroretinogram showed normal or mild reduction in the photopic amplitude. Eight candidate genes (STGD4, RCD1, peripherin/RDS, GUCA1A, RIMS1, UNC119, GUC Y2D, and AIPL1) and two genetic loci (4p15.2-16.3, and 17p13) were excluded to be responsible for the disease by linkage analysis.Conclusions The clinical findings of this Chinese family with CACD shared

  18. A novel splice mutation of HERG in a Chinese family with long QT syndrome

    Institute of Scientific and Technical Information of China (English)

    SHANG Yun-peng; XIE Xu-dong; WANG Xing-xiang; CHEN Jun-zhu; ZHU Jian-hua; TAO Qian-min; ZHENG Liang-rong

    2005-01-01

    Congenital long QT syndrome (LQTS) is a genetically heterogeneous disease in which six ion-channel genes have been identified. The phenotype-genotype relationships of the HERG (human ether-a-go-go-related gene) mutations are not fully understood. The objective of this study is to identify the underlying genetic basis of a Chinese family with LQTS and to characterize the clinical manifestations properties of the mutation. Single strand conformation polymorphism (SSCP) analyses were conducted on DNA fragments amplified by polymerase chain reaction from five LQT-related genes. Aberrant conformers were analyzed by DNA sequencing. A novel splice mutation in C-terminus of HERG was identified in this Chinese LQTS family,leading to the deletion of 11-bp at the acceptor splice site of Exon9 [Exon9 IVS del (-12→-2)]. The mutation might affect,through deficient splicing, the putative cyclic nucleotide binding domain (CNBD) of the HERG K+ channel. This mutation resulted in a mildly affected phenotype. Only the proband had a history of syncopes, while the other three individuals with long QT interval had no symptoms. Two other mutation carriers displayed normal phenotype. No sudden death occurred in the family. The 4 affected individuals and the two silent mutation carriers were all heterozygous for the mutation. It is the first splice mutation of HERG reported in Chinese LQTS families. Clinical data suggest that the CNBD mutation may be less malignant than mutations occurring in the pore region and be partially dominant over wild-type function.

  19. A novel mutation of the KIT gene in a Chinese family with piebaldism

    Institute of Scientific and Technical Information of China (English)

    WEN Guang-dong; ZHOU Cheng; YU Cong; DU Juan; XU Qian-xi; LIU Zheng-yi; ZHANG Jian-zhong

    2013-01-01

    Background Human piebaldism is a rare autosomal dominant condition characterized by congenital white forelock and depigmented patches of skin,typically on the forehead,anterior trunk and extremities.Mutations in the KIT gene have been proposed to be responsible for the underlying changes in this disorder.The aim of this study was to identify gene mutation in a Chinese family with piebaldism.Methods A Chinese family with piebaldism presenting with white forelock and large depigmented skin macules on the abdomen,arms and legs was collected.DNA was isolated from peripheral blood of the family members.The encoding exons with flanking intron regions of the KIT gene were analyzed by polymerase chain reactions (PCR) and direct DNA sequencing.Besides,DNA extracted from 100 ethnically matched population individuals was as controls.Results A heterozygous missense mutation c.2590T>C was identified in the patients of the family.This mutation converted a serine residue to proline (p.Ser864Pro).The mutation was not found in their unaffected family members or normal controis.Conclusion A novel missense mutation c.2590 T>C was found and it might play a significant role in the piebaldism phenotype in the family.

  20. A novel DSPP mutation is associated with type II dentinogenesis Imperfecta in a chinese family

    Directory of Open Access Journals (Sweden)

    Xu Chengqi

    2007-08-01

    Full Text Available Abstract Background Hereditary defects of tooth dentin are classified into two main groups: dentin dysplasia (DD (types I and II and dentinogenesis imperfecta (DGI (types I, II, and III. Type II DGI is one of the most common tooth defects with an autosomal dominant mode of inheritance. One disease-causing gene, the dentin sialophosphoprotein (DSPP gene, has been reported for type II DGI. Methods In this study, we characterized a four-generation Chinese family with type II DGI that consists of 18 living family members, including 8 affected individuals. Linkage analysis with polymorphic markers D4S1534 and D4S414 that span the DSPP gene showed that the family is linked to DSPP. All five exons and exon-intron boundaries of DSPP were sequenced in members of type II DGI family. Results Direct DNA sequence analysis identified a novel mutation (c.49C→T, p.Pro17Ser in exon 1 of the DSPP gene. The mutation spot, the Pro17 residue, is the second amino acid of the mature DSP protein, and highly conserved during evolution. The mutation was identified in all affected individuals, but not in normal family members and 100 controls. Conclusion These results suggest that mutation p.Pro17Ser causes type II DGI in the Chinese family. This study identifies a novel mutation in the DSPP gene, and expands the spectrum of mutations that cause DGI.

  1. A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

    Directory of Open Access Journals (Sweden)

    Yu Zhou

    2016-01-01

    Full Text Available Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC in a Chinese family using next-generation sequencing technology. This family included eight unaffected and five affected individuals. After complete ophthalmic examinations, the blood samples of the proband and two available family members were collected. Then the whole exome sequencing was performed on the proband and Sanger sequencing was applied to validate the causal mutation in the two family members and control samples. After the whole exome sequencing data were filtered through a series of existing variation databases, a heterozygous mutation c.499Tfamily and was absolutely absent in 1000 ethnicity-matched control samples. Thus, the heterozygous mutation c.499Tfamily. In conclusion, our findings revealed a novel stopgain mutation c.499TChinese congenital cataract population and illustrated the important role of CRYBB2 in the genetics research of congenital cataract.

  2. Work-family conflict and burnout among Chinese female nurses: the mediating effect of psychological capital

    Directory of Open Access Journals (Sweden)

    Wang Yang

    2012-10-01

    Full Text Available Abstract Background Burnout among nurses not only threatens their own health, but also that of their patients. Exploring risk factors of nurse’ burnout is important to improve nurses’ health and to increase the quality of health care services. This study aims to explore the relationship between work-family conflict and burnout among Chinese female nurses and the mediating role of psychological capital in this relationship. Methods This cross-sectional study was performed during the period of September and October 2010. A questionnaire that consisted of the Maslach Burnout Inventory-General Survey (MBI-GS, the work-family conflict scale and the psychological capital questionnaire (PCQ-24 scale, as well as demographic and working factors, was distributed to nurses in Liaoning province, China. A total of 1,332 individuals (effective response rate: 78.35% became our subjects. Hierarchical linear regression analyses were performed to explore the mediating role of psychological capital. Results Both work interfering family conflict and family interfering work conflict were positively related with emotional exhaustion and cynicism. However, work interfering family conflict was positively related with professional efficacy whereas family interfering work conflict was negatively related with it. Psychological capital partially mediated the relationship of work interfering family conflict with emotional exhaustion and cynicism; and partially mediated the relationship of family interfering work conflict with emotional exhaustion, cynicism and professional efficacy. Conclusion Work-family conflict had effects on burnout and psychological capital was a mediator in this relationship among Chinese nurses. Psychological capital was a positive resource for fighting against nurses’ burnout.

  3. Neighborhood characteristics, parenting styles, and children's behavioral problems in Chinese American immigrant families.

    Science.gov (United States)

    Lee, Erica H; Zhou, Qing; Ly, Jennifer; Main, Alexandra; Tao, Annie; Chen, Stephen H

    2014-04-01

    Using data from a socioeconomically diverse sample of Chinese American children (n = 258, aged 6-9 years) in immigrant families, we examined the concurrent relations among neighborhood economic disadvantage and concentration of Asian residents, parenting styles, and Chinese American children's externalizing and internalizing problems. Neighborhood characteristics were measured with 2000 U.S. Census tract-level data, parents (mostly mothers) rated their own parenting styles, and parents and teachers rated children's behavioral problems. Path analysis was conducted to test two hypotheses: (a) parenting styles mediate the relations between neighborhood characteristics and children's behavioral problems, and (b) children's behavioral problems mediate the relations between neighborhood and parenting styles. We found that neighborhood Asian concentration was positively associated with authoritarian parenting, which in turn was associated with Chinese American children's higher externalizing and internalizing problems (by parents' reports). In addition, neighborhood economic disadvantage was positively related to children's externalizing problems (by parents' reports), which in turn predicted lower authoritative parenting. The current results suggest the need to consider multiple pathways in the relations among neighborhood, family, and child adjustment, and they have implications for the prevention and intervention of behavioral problems in Chinese American children.

  4. Identification of a novel HLA-A*0278 allele in a Chinese family.

    Science.gov (United States)

    Ji, Y; Sun, J-L; Du, K-M; Xie, J-H; Ji, Y-H; Yang, J-H; Fu, M; Sun, Y; Jin, Y; Liu, D-Z; Zhao, T-M

    2005-06-01

    A novel human leukocyte antigen-A (HLA-A) allele, A*0278, has been identified in a Chinese family using DNA-based typing and molecular cloning methods. The alleles A*0278 differs from its closest matching HLA sequence of A*0256 by a silent substitution at 102 A > C and by two replacement substitutions, 98T > A and 292 C > G in exon 2, resulting in a change of codon 33 from Phe (TTC) to Tyr (TAC) and codon 98 from His (CAC) to Asp (GAC). Serology study revealed that A*0278 is associated with HLA-A2 broad specificity. A polymerase chain reaction-sequence-specific primers-based assay was developed to identify A*0278. Family study indicated that the propositus inhered his father's HLA haplotype A*0278, B*35, DRB1*15. No further individuals of A*0278 were found in 5000 Chinese bone marrow donor volunteers.

  5. Workplace discrimination predicting racial/ethnic socialization across African American, Latino, and Chinese families.

    Science.gov (United States)

    Hagelskamp, Carolin; Hughes, Diane L

    2014-10-01

    Informed by Kohn and Schooler's (1969) occupational socialization framework, this study examined linkages between racial/ethnic minority mothers' perceptions of racial/ethnic discrimination in the workplace and adolescents' accounts of racial/ethnic socialization in the home. Data were collected from 100 mother-early adolescent dyads who participated in a longitudinal study of urban adolescents' development in the Northeastern United States, including African American, Latino, and Chinese families. Mothers and adolescents completed surveys separately. We found that when mothers reported more frequent institutional discrimination at work, adolescents reported more frequent preparation for bias messages at home, across racial/ethnic groups. Mothers' experiences of interpersonal prejudice at work were associated with more frequent cultural socialization messages among African American and Latino families. Chinese youth reported fewer cultural socialization messages when mothers perceived more frequent interpersonal prejudice at work. Findings are discussed in the context of minority groups' distinct social histories and economic status in the United States.

  6. Unusual cerebral white matter change in a Chinese family with Spinocerebellar ataxia type 12.

    Science.gov (United States)

    Hu, Tao; Zhao, Bi; Wei, Qian-qian; Shang, Huifang

    2015-02-15

    In a Chinese family with Spinocerebellar ataxia type 12 (SCA12), presenting with action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal CAG repeat length in the brain-specific protein phosphatase 2, regulatory subunit B, beta isoform (PPP2R2B) gene. To our knowledge, this is the first report on patients with SCA12 presenting with prominent cerebral white matter change besides cerebral and/or cerebellar atrophy.

  7. Mother-Adolescent Language Proficiency and Adolescent Academic and Emotional Adjustment Among Chinese American Families

    OpenAIRE

    2008-01-01

    This study examined the role of adolescents’ and mothers’ self-reports of English and heritage language proficiency in youth’s academic and emotional adjustment among 444 Chinese American families. Adolescents who were proficient in English tended to exhibit higher reading achievement scores, math achievement scores, and overall GPA. Mothers who were English proficient tended to have children with higher academic achievement and fewer depressive symptoms. Results also indicated that adolescen...

  8. Mutation Analysis in the BRCA1 Gene in Chinese Breast Cancer Families

    Institute of Scientific and Technical Information of China (English)

    WUZhengyan; ZHENLinlin; FANPing

    2003-01-01

    Objective: To study the mutation of BRCA1 gene in Chinese breast cancer families. Methods:Fifteen families were selected, involving 41 members, consisting of 23 breast cancer patients. Using poly-merase chain reaction and single stranded conformation polymorphism (PCR-SSCP), and subsequent DNA sequencing, the mutation of BRCA1 genes were analyzed. Results: Four mutations were found in all fam-ilies, and the proportion of mutation was 26.7% (4/15) in breast cancer families. One of the 4 mutations was 2228 insC, resulting in chain termination at codon 711. The remaining 3 mutations were 1884A→T and 3232A→G, resulting in single amino acid change respectively. Conclusion: BRCA1 is a breast cancer susceptibility gene. The relatively low proportion and frequency of BRCA1 mutations in our study hints additional BRCA genes existed.

  9. A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

    Science.gov (United States)

    Zhou, Yu; Zhai, Yaru; Huang, Lulin; Gong, Bo; Li, Jie; Hao, Fang; Wu, Zhengzheng

    2016-01-01

    Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC) in a Chinese family using next-generation sequencing technology. This family included eight unaffected and five affected individuals. After complete ophthalmic examinations, the blood samples of the proband and two available family members were collected. Then the whole exome sequencing was performed on the proband and Sanger sequencing was applied to validate the causal mutation in the two family members and control samples. After the whole exome sequencing data were filtered through a series of existing variation databases, a heterozygous mutation c.499Tcongenital cataract population and illustrated the important role of CRYBB2 in the genetics research of congenital cataract. PMID:28025620

  10. Family material hardship and chinese adolescents' problem behaviors: a moderated mediation analysis.

    Science.gov (United States)

    Sun, Wenqiang; Li, Dongping; Zhang, Wei; Bao, Zhenzhou; Wang, Yanhui

    2015-01-01

    In the current study, we examined a moderated mediation model using the risk and resilience framework. Specifically, the impact of family material hardship on adolescent problem behaviors was examined in a Chinese sample; we used the family stress model framework to investigate parental depression and negative parenting as potential mediators of the relation between family material hardship and adolescents' problem behaviors. In addition, based on resilience theory, we investigated adolescents' resilience as a potential protective factor in the development of their internalizing and externalizing problems. Participants included 1,419 Chinese adolescents (mean age = 15.38 years, SD = 1.79) and their primary caregivers. After controlling for covariates (age, gender, location of family residence, and primary caregiver), we found that parental depression and negative parenting mediated the association between family material hardship and adolescents' problem behaviors. Furthermore, the adolescent resilience moderated the relationship between negative parenting and internalizing problems in a protective-stabilizing pattern; in addition, a protective-reactive pattern also emerged when adolescent resilience was examined as a moderator of the relationship between negative parenting and externalizing problems. These findings contribute to a comprehensive understanding of the mechanisms of risk and resilience in youth development. Moreover, the findings have important implications for the prevention of adolescent problem behaviors.

  11. Family material hardship and chinese adolescents' problem behaviors: a moderated mediation analysis.

    Directory of Open Access Journals (Sweden)

    Wenqiang Sun

    Full Text Available In the current study, we examined a moderated mediation model using the risk and resilience framework. Specifically, the impact of family material hardship on adolescent problem behaviors was examined in a Chinese sample; we used the family stress model framework to investigate parental depression and negative parenting as potential mediators of the relation between family material hardship and adolescents' problem behaviors. In addition, based on resilience theory, we investigated adolescents' resilience as a potential protective factor in the development of their internalizing and externalizing problems. Participants included 1,419 Chinese adolescents (mean age = 15.38 years, SD = 1.79 and their primary caregivers. After controlling for covariates (age, gender, location of family residence, and primary caregiver, we found that parental depression and negative parenting mediated the association between family material hardship and adolescents' problem behaviors. Furthermore, the adolescent resilience moderated the relationship between negative parenting and internalizing problems in a protective-stabilizing pattern; in addition, a protective-reactive pattern also emerged when adolescent resilience was examined as a moderator of the relationship between negative parenting and externalizing problems. These findings contribute to a comprehensive understanding of the mechanisms of risk and resilience in youth development. Moreover, the findings have important implications for the prevention of adolescent problem behaviors.

  12. Cribiform variant of papillary thyroid cancer and familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    E. Perea del Pozo

    2015-01-01

    Conclusions: The diagnosis of CMV of PTC is very strongly related to the FAP syndrome and must be suspected when a thyroid node appears in FAP patients. Likewise, any patient without known FAP who presents this histology in a surgically biopsied or resected thyroid node should undergo total colonoscopy for screening of colonic polyposis and genetic study of the APC gene sequence.

  13. Desmoid tumour in familial adenomatous polyposis. A review of literature

    DEFF Research Database (Denmark)

    Knudsen, Anne Louise; Bülow, Steffen

    2001-01-01

    in combination with tamoxifen. Surgery may be considered in case of a small and well-defined DT with no signs of invasion of vital structures, and in cases of imminent bowel ischaemia or obstruction. The prognosis in mesenteric DT is serious, and improvement of the therapeutic strategy awaits current...

  14. Guidelines for the clinical management of familial adenomatous polyposis (FAP)

    DEFF Research Database (Denmark)

    Vasen, H.F.; Moslein, G.; Alonso, A.

    2008-01-01

    is the MUTYH gene and the inheritance is autosomal recessive. In April 2006 and February 2007, a workshop was organised in Mallorca by European experts on hereditary gastrointestinal cancer aiming to establish guidelines for the clinical management of FAP and to initiate collaborative studies. Thirty......-one experts from nine European countries participated in these workshops. Prior to the meeting, various participants examined the most important management issues according to the latest publications. A systematic literature search using Pubmed and reference lists of retrieved articles, and manual searches...... of relevant articles, was performed. During the workshop, all recommendations were discussed in detail. Because most of the studies that form the basis for the recommendations were descriptive and/or retrospective in nature, many of them were based on expert opinion. The guidelines described herein may...

  15. Family and personal protective factors moderate the effects of adversity and negative disposition on smoking among Chinese adolescents.

    Science.gov (United States)

    Arpawong, Thalida Em; Sun, Ping; Chang, Megan Chia-Chen; Gallaher, Peggy; Pang, Zengchang; Guo, Qian; Johnson, C Anderson; Unger, Jennifer

    2010-07-01

    Tobacco use among Chinese adolescents is increasing at approximately 80,000 new smokers per day. Assessing the causes for initiating tobacco use in China will be important in developing effective interventions and policies to stem rising prevalence rates. This study tested predictors of Resilience Theory in a sample of 602 Chinese adolescents. Results revealed that prior adversity, measured through school and family-related events, was significantly associated with increased smoking in females. Family factors (i.e., family cohesion, family adaptability, parental monitoring) and one personal factor (i.e., academic score) were associated with lower odds for smoking due to prior adversity and negative disposition.

  16. A novel mitochondrial tRNA gene mutation in a chinese family with dilated cardiomyopathy and sensorineural deafness

    Institute of Scientific and Technical Information of China (English)

    Xianghong Wu; Xiumei Xie; Guotian Ma; Guoju Sun; Xiaobin Chen

    2006-01-01

    Objective: To determine whether a mutation of mitochondrial DNA induces familial dilated cardiomyopathy in Chinese families with cardiomyopathy, and analyzed the correlation between the genotype and phenotype. Methods: Affected members in three Chinese families of the familial dilated cardiomyopathy underwent clinical evaluation and DNA analysis. Polymerase chain reaction and direct DNA sequencing were used to screen for mitochondrial DNA mutation. The type of mtDNA vairations and clinical situation were analysed on the patients with mitochondrial DNA mutation. Results: The mitochondrial A3434G mutation was identified in one of the three families,the 3434 th nucleotide A was replaced by G, which led to change of amino acid. No mutations were identified in the clinically unaffected members of the family and all members of the other two families.Conclusion: This study indicates that the mitochondrial A3434G mutation maybe related with familial dilated cardiomyopathy and deafness.

  17. A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma.

    Science.gov (United States)

    Wu, J W; Xiao, S X; Huo, J; An, J G; Ren, J W

    2014-11-01

    Multiple familial trichoepithelioma (MFT) (OMIM: 601606) is an autosomal dominantly inherited disorder characterized by numerous, skin-colored papules and nodules with pilar differentiation. Recently, several mutations in the cylindromatosis (CYLD) gene have been reported in MFT. In this study, a mutation analysis of the CYLD was conducted in a Chinese pedigree of typical MFT. Affected individuals were identified through probands from Shanxi Province, China. Lesional skin biopsy of the proband revealed the typical histopathological characteristics of trichoepithelioma. Individuals belonging to five consecutive generations were similarly affected, which indicated an autosomal dominant inheritance pattern. Genomic DNA was extracted from peripheral blood lymphocytes using standard phenol/chloroform extraction method. All the coding exons (4-20) and exon-intron boundaries of the CYLD gene were amplified by polymerase chain reaction (PCR). Direct sequencing of all PCR products amplified from the complete coding regions of the CYLD gene was performed to identify mutations. Sequencing of the CYLD gene was performed in a further 100 unrelated, unaffected control individuals to exclude the possibility of polymorphism. A novel heterozygous frameshift mutation c.1169_1170delCA (p.Thr390Argfs) was identified in exon 10 of the CYLD gene in the affected family members. This mutation was also detected in unaffected family members, but not in the unrelated, healthy individuals who were also analyzed. Our study expands the database on the CYLD gene mutations in MFT and should be useful in providing genetic counseling and prenatal diagnosis for families affected by MFT.

  18. Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.

    Directory of Open Access Journals (Sweden)

    Xin Wang

    Full Text Available Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI. Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junctional epidermolysis bullosa (JEB, while with only one mutant allele in the C-terminus of LAMB3, it could result in severe hypoplastic AI without skin fragility. We enrolled three Chinese families with hypoplastic autosomal-dominant AI. Despite the diagnosis falling into the same type, the characteristics of their enamel hypoplasia were different. Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples. Disease-causing mutations were identified and perfectly segregated with the enamel defects in three families: a 19-bp insertion mutation in the exon 7 of ENAM (c.406_407insTCAAAAAAGCCGACCACAA, p.K136Ifs*16 in Family 1, a single-base deletion mutation in the exon 5 of ENAM (c. 139delA, p. M47Cfs*11 in Family 2, and a LAMB3 nonsense mutation in the last exon (c.3466C>T, p.Q1156X in Family 3. Our results suggest that heterozygous mutations in ENAM and LAMB3 genes can cause hypoplastic AI with markedly different phenotypes in Chinese patients. And these findings extend the mutation spectrum of both genes and can be used for mutation screening of AI in the Chinese population.

  19. Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.

    Science.gov (United States)

    Wang, Xin; Zhao, Yuming; Yang, Yuan; Qin, Man

    2015-01-01

    Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI). Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junctional epidermolysis bullosa (JEB), while with only one mutant allele in the C-terminus of LAMB3, it could result in severe hypoplastic AI without skin fragility. We enrolled three Chinese families with hypoplastic autosomal-dominant AI. Despite the diagnosis falling into the same type, the characteristics of their enamel hypoplasia were different. Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples. Disease-causing mutations were identified and perfectly segregated with the enamel defects in three families: a 19-bp insertion mutation in the exon 7 of ENAM (c.406_407insTCAAAAAAGCCGACCACAA, p.K136Ifs*16) in Family 1, a single-base deletion mutation in the exon 5 of ENAM (c. 139delA, p. M47Cfs*11) in Family 2, and a LAMB3 nonsense mutation in the last exon (c.3466C>T, p.Q1156X) in Family 3. Our results suggest that heterozygous mutations in ENAM and LAMB3 genes can cause hypoplastic AI with markedly different phenotypes in Chinese patients. And these findings extend the mutation spectrum of both genes and can be used for mutation screening of AI in the Chinese population.

  20. Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II).

    Science.gov (United States)

    Zheng, Hui; Shao, Chong; Zheng, Yan; He, Jin-Wei; Fu, Wen-Zhen; Wang, Chun; Zhang, Zhen-Lin

    2016-07-01

    Autosomal dominant osteopetrosis type II (ADO-II) is a heritable bone disorder characterized by osteosclerosis, predominantly involving the spine (vertebral end-plate thickening, or rugger-jersey spine), the pelvis ("bone-within-bone" structures) and the skull base. Chloride channel 7 (CLCN7) has been reported to be the causative gene. In this study, we aimed to identify the pathogenic mutation in four Chinese families with ADO-II. All 25 exons of the CLCN7 gene, including the exon-intron boundaries, were amplified and sequenced directly in four probands from the Chinese families with ADO-II. The mutation site was then identified in other family members and 250 healthy controls. In family 1, a known missense mutation c.296A>G in exon 4 of CLCN7 was identified in the proband, resulting in a tyrosine (UAU) to cysteine (UGU) substitution at p.99 (Y99C); the mutation was also identified in his affected father. In family 2, a novel missense mutation c.865G>C in exon 10 was identified in the proband, resulting in a valine (GUC) to leucine (CUC) substitution at p.289 (V289L); the mutation was also identified in her healthy mother and sister. In family 3, a novel missense mutation c.1625C>T in exon 17 of CLCN7 was identified in the proband, resulting in an alanine (GCG) to valine (GUG) substitution at p.542 (A542V); the mutation was also identified in her father. In family 4, a hot spot, R767W (c.2299C>T, CGG>TGG), in exon 24 was found in the proband which once again proved the susceptibility of the site or the similar genetic background in different races. Moreover, two novel mutations, V289L and A542V, occurred at a highly conserved position, found by a comparison of the protein sequences from eight vertebrates, and were predicted to have a pathogenic effect by PolyPhen-2 software, which showed "probably damaging" with a score of approximately 1. These mutation sites were not identified in 250 healthy controls. Our present findings suggest that the novel missense

  1. A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract.

    Science.gov (United States)

    Liu, Ling; Zhang, Qing; Zhou, Lu-xin; Tang, Zhao-hui

    2015-04-01

    This study was aimed to identify the mutation of the whole coding region of shock transcription factor 4 (HSF4) gene in a Chinese family with autosomal dominant congenital cataract (ADCC). All exons of HSF4 were amplified by PCR. Sequence analysis of PCR products was performed. Restriction fragment length polymorphism (RFLP) analysis was conducted to confirm the pathogenic mutation. The results showed that a C to T substitution occurred at nucleotide 331 in patients of this family, leading to the replacement of the amino acid arginine-111 with cysteine in exon 3. RFLP analysis showed that the amino acid change was co-segregated with all affected individuals. It was concluded that the new mutation of c.331C>T in HSF4 DNA may be responsible for the autosomal dominant congenital cataract in this family.

  2. Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.

    Science.gov (United States)

    Zhang, L M; An, Y; Pan, G; Ding, Y F; Zhou, Y F; Yao, Y H; Wu, B L; Zhou, S Z

    2015-09-01

    Paroxysmal kinesigenic dyskinesia is a rare episodic movement disorder that can be isolated or associated with benign infantile seizures as part of choreoathetosis syndrome. Mutations in the PRRT2 gene have been recently identified as a cause of paroxysmal kinesigenic dyskinesia and infantile convulsion and choreoathetosis (ICCA). We reported a PRRT2 heterozygous mutation (c.604-607delTCAC, p.S202Hfs*25) in a 3-generation Chinese family with infantile convulsion and choreoathetosis and paroxysmal kinesigenic dyskinesia. The mutation was present in 5 family members, of which 4 were clinically affected and 1 was an obligate carrier with reduced penetrance of PRRT2. The affected carriers of this mutation presented with a similar type of infantile convulsion during early childhood and developed additional paroxysmal kinesigenic dyskinesia symptoms later in life. In addition, they all had a dramatic clinical response to oxcarbazepine/phenytoin therapy. Reduced penetrance of the PRRT2 mutation in this family could warrant genetic counseling.

  3. Does family background impact driving attitudes and risky behaviours? An investigation on Chinese young drivers.

    Science.gov (United States)

    Wang, Zhe; Zheng, Zuduo; Fleiter, Judy J

    2016-10-01

    The rapid pace of motorisation in China has been well documented, as has the large road trauma burden the Chinese citizens are facing as a result. China's unique political system represents an important consideration in helping reduce road trauma, yet political factors have not been previously investigated in this context. Recently, emerging issues on the road involving the adult children of politically powerful families have become a serious social problem in China, and have drawn widespread media and public attention. This study took a novel approach to examining factors associated with risky attitudes and risky road use in China by investigating the economic and political background status of a sample of young Chinese drivers. An online survey was conducted in May 2015 with a sample size of 476 Chinese young drivers from across the country, aged between 18 and 28, including 305 males and 171 females. The results suggest that for participants who reported having a familial political background, more risky driving behaviours were reported among those participants who reported more impact on their life from that political background; while for participants without political background, higher personal income was associated with more risky driving behaviours. The findings are discussed in light of China's political management system and potential education opportunities for young drivers.

  4. The Cinematic Depiction of Conflict Resolution in the Immigrant Chinese Family: The Wedding Banquet and Saving Face

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    Qijun Han

    2013-12-01

    Full Text Available Both emphasising dilemmas that have been confronted by the Chinese-American family, Ang Lee’s The Wedding Banquet (1993 and Alice Wu’s Saving Face (2004 highlight the image of homosexuality as incompatible with traditional Chinese family values. Through detailed narrative analyses of these two films with a focus on the structure of the plot, the key characters, and camera work, this article aims to answer the questions of how traditional Chinese culture continues to play into and conflict with the experiences of modern Chinese American families and how each film presents and resolves the tensions arising from a culture in transition. The article argues that the importance of studying the ways in which the protagonists try to come to terms with incompatible value systems, lies in the capacity of film to reveal the complex negotiation between tradition and modernity, as well as the socio-cultural specificity of the conceptions of modernity.

  5. The Cinematic Depiction of Conflict Resolution in the Immigrant Chinese Family: The Wedding Banquet and Saving Face

    Directory of Open Access Journals (Sweden)

    Qijun Han

    2013-12-01

    Full Text Available Both emphasising dilemmas that have been confronted by the Chinese-American family, Ang Lee’s The Wedding Banquet (1993 and Alice Wu’s Saving Face (2004 highlight the image of homosexuality as incompatible with traditional Chinese family values. Through detailed narrative analyses of these two films with a focus on the structure of the plot, the key characters, and camera work, this article aims to answer the questions of how traditional Chinese culture continues to play into and conflict with the experiences of modern Chinese American families and how each film presents and resolves the tensions arising from a culture in transition. The article argues that the importance of studying the ways in which the protagonists try to come to terms with incompatible value systems, lies in the capacity of film to reveal the complex negotiation between tradition and modernity, as well as the socio-cultural specificity of the conceptions of modernity. 

  6. Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.

    Science.gov (United States)

    Shen, Yiping; Chen, Xiaoli; Wang, Liwen; Guo, Jin; Shen, Jianliang; An, Yu; Zhu, Haitao; Zhu, Yanli; Xin, Ruolei; Bao, Yihua; Gusella, James F; Zhang, Ting; Wu, Bai-Lin

    2011-03-01

    The 16p11.2 deletion is a recurrent genomic event and a significant risk factor for autism spectrum disorders (ASD). This genomic disorder also exhibits extensive phenotypic variability and diverse clinical phenotypes. The full extent of phenotypic heterogeneity associated with the 16p11.2 deletion disorder and the factors that modify the clinical phenotypes are currently unknown. Multiplex families with deletion offer unique opportunities for exploring the degree of heterogeneity and implicating modifiers. Here we reported the clinical and genomic characteristics of three 16p11.2 deletion carriers in a Chinese family. The father carries a de novo 16p11.2 deletion, and it was transmitted to the proband and sib. The proband presented with ASD, intellectual disability, learning difficulty, congenital malformations such as atrial septal defect, scoliosis. His dysmorphic features included myopia and strabismus, flat and broad nasal bridge, etc. While the father shared same neurodevelopmental problems as the proband, the younger brother did not show many of the proband's phenotypes. The possible unmasked mutation of TBX6 and MVP gene in this deleted region and the differential distribution of other genomic CNVs were explored to explain the phenotypic heterogeneity in these carriers. This report demonstrated the different developmental trajectory and discordant phenotypes among family members with the same 16p11.2 deletion, thus further illustrated the phenotypic complexity and heterogeneity of the 16p11.2 deletion.

  7. A Patient With Desmoid Tumors and Familial FAP Having Frame Shift Mutation of the APC Gene

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    Sanambar Sadighi

    2017-02-01

    Full Text Available Desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis (FAP as an extra-colonic manifestation of the disease. FAP can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. Although mild or attenuated FAP may follow mutations in 5΄ extreme of the gene, it is more likely that 3΄ extreme mutations haveamore severe manifestation of thedisease. A 28-year-old woman was admitted to the Cancer Institute of Iran with an abdominal painful mass. She had strong family history of FAP and underwent prophylactic total colectomy. Pre-operative CT scans revealed a large mass. Microscopic observation showed diffuse fibroblast cell infiltration of the adjacent tissue structures. Peripheral blood DNA extraction followed by adenomatous polyposis coli gene exon by exon sequencing was performed to investigate the mutation in adenomatous polyposis coli gene. Analysis of DNA sequencing demonstrated a mutation of 4 bpdeletions at codon 1309-1310 of the exon 16 of adenomatous polyposis coli gene sequence which was repeated in 3 members of the family. Some of them had desmoid tumor without classical FAP history. Even when there is no familial history of adenomatous polyposis, the adenomatous polyposis coli gene mutation should be investigated in cases of familial desmoids tumors for a suitable prevention. The 3΄ extreme of the adenomatous polyposis coli gene is still the best likely location in such families.

  8. Seguimiento posquirúrgico de los pacientes con poliposis adenomatosa familiar: resultados en una población del sur de España Follow-up after surgical treatment of patients whit familial adenomatous polyposis: Results in Southern Spanish population

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    C. Cordero Fernández

    2007-08-01

    Full Text Available Objetivo: analizar la evolución de la mucosa rectal y del reservorio así como idoneidad de los intervalos de seguimiento y del tratamiento realizado para evitar la aparición del cáncer, en una serie de pacientes con poliposis adenomatosa familiar (PAF, intervenidos. Método: estudio prospectivo de 28 pacientes con PAF intervenidos mediante anastomosis íleo-rectal (20 pacientes y anastomosis íleo-anal con reservorio (8 pacientes. A todos se les había realizado un control endoscópico dos veces al año y análisis del número y características macroscópicas e histológicas de los pólipos antes y después de la cirugía así como del tratamiento realizado, de sus complicaciones y de la adecuación del intervalo de seguimiento. El seguimiento medio fue de 6,47 años (DE = 4,59; rango = 0,72-16,75 años. Resultados: ninguno de los 26 pacientes que cumplimentaron correctamente el protocolo de seguimiento desarrolló cáncer. Sólo dos pacientes lo desarrollaron al 1,75 y los 3 años, respectivamente del abandono del protocolo. Los pacientes que desarrollaron adenomas durante el seguimiento fueron tratados con éxito mediante polipectomía endoscópica, salvo en dos casos que se indicó cirugía. Conclusiones: en nuestra serie, el incumplimiento de las revisiones ha sido el factor que ha condicionado la aparición de cáncer.Objective: the study was to assess changes in the rectal mucosa and pouch in a series of patients with familial adenomatous polyposis (FAP who underwent either subtotal colectomy and ileorectal anastomosis (IRA or proctocolectomy and ileal pouch-anal anastomosis (IPAA, and to evaluate the suitability of the follow-up interval and postoperative treatment employed to prevent the development of cancer. Method: this study involved 28 patients with FAP who underwent IRA (n=20 or IPAA (n=8, and were followed endoscopically over a mean period of 7.47 years. The number and both macroscopic and histological features of polyps

  9. Mother-adolescent language proficiency and adolescent academic and emotional adjustment among Chinese American families.

    Science.gov (United States)

    Liu, Lisa L; Benner, Aprile D; Lau, Anna S; Kim, Su Yeong

    2009-04-01

    This study examined the role of adolescents' and mothers' self-reports of English and heritage language proficiency in youth's academic and emotional adjustment among 444 Chinese American families. Adolescents who were proficient in English tended to exhibit higher reading achievement scores, math achievement scores, and overall GPA. Mothers who were English proficient tended to have children with higher academic achievement and fewer depressive symptoms. Results also indicated that adolescents' heritage language maintenance was associated with positive adjustment, particularly amongst foreign-born youth and for youth whose parents were highly proficient in the heritage language. Mother-adolescent match in heritage language proficiency was related to higher math achievement scores and overall GPA. Additionally, higher heritage language proficiency was associated with fewer depressive symptoms for foreign-born but not U.S.-born youth. Overall, the findings suggest that proficiency in both the English and heritage language may confer advantages to Chinese American youth.

  10. Mutation analysis of PAX6 gene in a large Chinese family with aniridia

    Institute of Scientific and Technical Information of China (English)

    SONG Shu-juan; LIU Ying-zhi; CONG Ri-chang; JIN Ying; HOU Zhi-qiang; MA Zhi-zhong; REN Guo-cheng; LI Ling-song

    2005-01-01

    Background Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia. Methods Genomic DNA from venous blood samples was prepared. Haplotype analysis was performed with two genetic markers (D11S904 and D11S935). Fourteen exons of the PAX6 gene were amplified from genomic DNA. Polymerase chain reaction (PCR) products of each exon were analysed by single strand conformational polymorphism (SSCP). The PCR products having an abnormal pattern were sequenced to confirm the mutation.Results Significant evidence for allele sharing in affected patients was detected suggesting that PAX6 mutation links to aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all the aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA).Conclusions Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of aniridia to their offsprings in the kindred by prenatal diagnosis.

  11. The Attitudes of Chinese Cancer Patients and Family Caregivers toward Advance Directives

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    Qiu Zhang

    2016-08-01

    Full Text Available Advance directives (ADs have been legislated in many countries to protect patient autonomy regarding medical decisions at the end of life. China is facing a serious cancer burden and cancer patients’ quality at the end of life should be a concern. However, limited studies have been conducted locally to gather information about attitudes toward ADs. The purpose of this study was to investigate the attitudes of Chinese cancer patients and family caregivers toward ADs and to explore the predictors that are associated with attitudes. The study indicated that although there was low awareness of ADs, most cancer patients and family caregivers had positive attitudes toward ADs after related information was explained to them. Participants preferred to discuss ADs with medical staff when they were diagnosed with a life-threatening disease. Preferences for refusing life-sustaining treatment and choosing Hospice-Palliative Care (HPC at the end of life would increase the likelihood of agreeing with ADs. This suggests that some effective interventions to help participants better understand end-of-life treatments are helpful in promoting ADs. Moreover, the development of HPC would contribute to Chinese cancer patients and family caregivers agreeing with ADs.

  12. Genome-wide analysis of the SBP-box gene family in Chinese cabbage (Brassica rapa subsp. pekinensis).

    Science.gov (United States)

    Tan, Hua-Wei; Song, Xiao-Ming; Duan, Wei-Ke; Wang, Yan; Hou, Xi-Lin

    2015-11-01

    The SQUAMOSA PROMOTER BINDING PROTEIN (SBP)-box gene family contains highly conserved plant-specific transcription factors that play an important role in plant development, especially in flowering. Chinese cabbage (Brassica rapa subsp. pekinensis) is a leafy vegetable grown worldwide and is used as a model crop for research in genome duplication. The present study aimed to characterize the SBP-box transcription factor genes in Chinese cabbage. Twenty-nine SBP-box genes were identified in the Chinese cabbage genome and classified into six groups. We identified 23 orthologous and 5 co-orthologous SBP-box gene pairs between Chinese cabbage and Arabidopsis. An interaction network among these genes was constructed. Sixteen SBP-box genes were expressed more abundantly in flowers than in other tissues, suggesting their involvement in flowering. We show that the MiR156/157 family members may regulate the coding regions or 3'-UTR regions of Chinese cabbage SBP-box genes. As SBP-box genes were found to potentially participate in some plant development pathways, quantitative real-time PCR analysis was performed and showed that Chinese cabbage SBP-box genes were also sensitive to the exogenous hormones methyl jasmonic acid and salicylic acid. The SBP-box genes have undergone gene duplication and loss, evolving a more refined regulation for diverse stimulation in plant tissues. Our comprehensive genome-wide analysis provides insights into the SBP-box gene family of Chinese cabbage.

  13. Evidence for a novel exon in the coding region of the adenomatous polyposis coli (APC) gene

    Energy Technology Data Exchange (ETDEWEB)

    Xia, Ling; St. Denis, K.A.; Bapat, B. [Univ. of Toronto (Canada)

    1995-08-10

    Germline mutations of the tumor suppressor gene APC cause familial adenomatous polyposis. Somatic APC alterations are involved in several sporadic neoplasma, including colorectal, duodenal, gastric, and esophageal carcinoma. The APC mRNA is encoded by 15 exons. Additional transcripts have been reported, due to alternative splicing of coding as well as noncoding regions. Two mRNA isoforms occur due to a deletion of exon 7 or a partial deletion of exon 9. We have identified a novel exon, flanked by APC exons 10 and 11, which is expressed as an alternatively transcribed product of the gene. Further, we have shown that the novel exon consists of a heptad repeat motif and is conserved across species. 18 refs., 2 figs.

  14. Chinese immigrant high school students' cultural interactions, acculturation, family obligations, language use, and social support.

    Science.gov (United States)

    Yeh, Christine J; Okubo, Yuki; Ma, Pei-Wen Winnie; Shea, Munyi; Ou, Dongshu; Pituc, Stephanie T

    2008-01-01

    When immigrant youth come to the United States, they must learn to interact with dominant and cultural groups as part of the adjustment process. The current study investigated whether the association between Chinese immigrant high school students' (N = 286) English fluency, academic and career/ college help-seeking, multidimensional acculturation, family responsibilities, and social support, predicted their intercultural competence concerns (their interactions across dominant and cultural groups). Results indicate that this was the case. Implications for research and practice with immigrant youth in a high school context are discussed.

  15. Antithrombin gene Arg197Stop mutation-associated venous sinus thrombosis in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    Ang Li; Dexin Wang; Qiming Xue; Baoen Wang; Tianhui Liu; Zhandong Liu; Jimei Li; Chunling Zhang; Jun Chen; Jinmei Sun; YanfeiHan; Lili Wang

    2011-01-01

    This study sought to elucidate the genetic correlation of cerebral venous sinus thrombosis caused by a hereditary antithrombin deficiency in a Chinese family, at the genetic and protein levels. A nonsense mutation from C to T on locus 6431 in exon 3B of the antithrombin gene was observed,leading to an arginine (CGA) to stop codon (TGA) change in the protein. This is the first report of this mutation in China. Ineffective heparin therapy in the propositus patient is associated with a lack of heparin binding sites after antithrombin gene mutation. Characteristic low intracranial pressure in the acute phase might be specific to this patient with cerebral venous sinus thrombosis.

  16. Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene

    Institute of Scientific and Technical Information of China (English)

    Fang; Hu; Xiang-Yun; Zeng; Lin-Lin; Liu; Yao-Ling; Luo; Yi-Ping; Jiang; Hui; Wang; Jing; Xie; Cheng-Quan; Hu; Lin; Gan; Liang; Huang

    2014-01-01

    AIM:To make comprehensive molecular diagnosis for retinitis pigmentosa(RP) patients in a consanguineous Han Chinese family using next generation sequencing based Capture-NGS screen technology.METHODS:A five-generation Han Chinese family diagnosed as non-syndromic X-linked recessive RP(XLRP) was recruited, including four affected males, four obligate female carriers and eleven unaffected family members. Capture-NGS was performed using a custom designed capture panel covers 163 known retinal disease genes including 47 RP genes, followed by the validation of detected mutation using Sanger sequencing in all recruited family members.RESULTS:Capture-NGS in one affected 47-year-old male reveals a novel mutation, c.24172418insG:p.E806 fs,in exon ORF15 of RP GTPase regulator(RPGR) gene results in a frameshift change that results in a premature stop codon and a truncated protein product. The mutation was further validated in three of four affected males and two of four female carriers but not in the other unaffected family members.CONCLUSION:We have identified a novel mutation,c.24172418insG:p.E806 fs, in a Han Chinese family with XLRP. Our findings expand the mutation spectrum of RPGR and the phenotypic spectrum of XLRP in Han Chinese families, and confirms Capture-NGS could be aneffective and economic approach for the comprehensive molecular diagnosis of RP.

  17. Dynamic mutation analysis of a SCA3 Chinese Han family and prenatal diagnosis

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    LI Jing

    2012-06-01

    Full Text Available Objective To explore the clinical features, genetic characters and the importance of prenatal diagnosis in spinocerebellar ataxia 3 (SCA3 patients. Methods SCA3/ATXN3 gene was determined by using PCR and segmental analysis techniques in 2 patients among a SCA3 Chinese Han family which included 9 patients in four generations. One patient was the proband's fetus. The clinical characters were also documented and analyzed in this family. Results There were 9 patients in this family with autosomal dominant inheritance feature. The initial symptoms in all affected members except the fetus were the gait disorders accompanied by dysphasia. Inability of upward gaze and bilateral Barbinski's signs were noted in proband. The onset age became earlier from generation to generation in this family which was around 50 year-old, 40 to 45 year-old, 28 year-old in generation Ⅰ, Ⅱ and Ⅲ, respectively. CAG repeats in SCA3/ATXN3 allele were 77 in proband, as well as in the fetus, while the normal SCA3/ATXN3 allele CAG repeats were less than 44. Conclusion SCA3 is the most frequent subtype of SCA in Asian. Unsteadiness of gait are first noted in most patients accompanied by other different symptoms and signs. Genetic anticipation was found in SCA3. But gene analysis revealed less dynamic mutation frequence in this family. Since there was no effective treatment in SCA3, hereditary consultation and prenatal diagnosis play an important role in disease prevention and hereditary.

  18. Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family.

    Science.gov (United States)

    Sun, Hao; Satake, Wataru; Zhang, Changjun; Nagai, Yoshitaka; Tian, Youyong; Fu, Shouzhi; Yu, Jiankun; Qian, Yaping; Qian, Yuan; Chu, Jiayou; Toda, Tatsushi

    2011-04-01

    Parkinson's disease is a degenerative central nervous system disorder that often impairs motor skills, speech and other functions. We discovered a large Chinese family showing primarily parkinsonism symptoms with autosomal dominant inheritance. Six affected individuals in the family showed typical parkinsonism symptoms, including pill-rolling tremor. Two other affected individuals showed cerebellar ataxia symptoms. A whole-genome scan using the 50K single nucleotide polymorphism array with three different linkage methods detected two positive regions on chromosome 12q24.1 and 5q13.3. The ATXN2 gene, responsible for spinocerebellar ataxia type 2 (SCA2) was located precisely in the center of the positive region on chromosome 12. Further analysis of SCA2 revealed heterozygous pathological CAG expansions in the family. The affected individuals' symptoms were typical of parkinsonism, but complex. Inverse correlation between CAG repeat size and age of onset is not obvious in this pedigree. This parkinsonism-predominant SCA2 family shared the same disease gene locus with other 'standard' SCA2 families, but it is possible that variations in one or more modifier genes might account for the parkinsonism-predominant SCA2 predisposition observed in this pedigree.

  19. Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome.

    Science.gov (United States)

    Lin, Ying; Gao, Hongbin; Ai, Siming; Eswarakumar, Jacob V P; Li, Tao; Liu, Bingqian; Jiang, Hongye; Liu, Yuhua; Liu, Xialin; Li, Yonghao; Ni, Yao; Chen, Jiangna; Lin, Zhuoling; Liang, Xiaoling; Jin, Chenjin; Huang, Xinhua; Lu, Lin; Liu, Yizhi

    2016-09-01

    Crouzon syndrome, a dominantly inherited disorder and the most common type of craniosynostosis syndrome, is caused by mutations in the fibroblast growth factor receptor 2 (FGFR 2) gene, and characterized by craniosynostosis, shallow orbits, ocular proptosis, midface hypoplasia and a curved, beak‑like nose. The purpose of the present study was to investigate the fibroblast growth factor receptor 2 (FGFR 2) gene in two Chinese families with Crouzon syndrome and to characterize the associated clinical features. Two families underwent complete ophthalmic examination, and three patients in two families were diagnosed with Crouzon syndrome. Genomic DNA was extracted from leukocytes of peripheral blood samples, which were collected from the family members and 200 unrelated control subjects from the same population. Exons 8 and 10 of the FGFR 2 gene were amplified using polymerase chain reaction analysis and were directly sequenced. Ophthalmic examinations, including best‑corrected visual acuity, slit‑lamp examination, fundus examination and Computerized Tomography scans, and physical examinations were performed to exclude systemic diseases. These patients were affected with shallow orbits and ocular proptosis, accompanied by midface hypoplasia, craniosynostosis, strabismus or papilloedema, with clinically normal hands and feet. A heterozygous FGFR 2 missense mutation, c.811‑812insGAG (p.273insGlu) in exon 8 was identified in the affected individual, but not in the unaffected family members or the normal control individuals in family 1. In family 2, another heterozygous FGFR 2 missense mutation, c.842A>G (P.Tyr281Cys or Y281C), in exon 8 was identified in the affected boy and his mother, but not in the unaffected family members or the normal control individuals. Although FGFR 2 gene mutations and polymorphisms have been reported in various ethnic groups, particularly in the area of osteology, the present study reported for the first time, to the best of

  20. An investigation of the choice of governance modes in Chinese family firms

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    Jiancai Pi

    2015-12-01

    Full Text Available This paper aims to investigate the choice of governance modes in Chinese family firms. For that purpose, we build a principal-agent model to conduct our analyses. There are two modes of governance that the owner of the family firm can choose from, either the relational governance or the professional governance. The choice of governance modes is embodied in managerial compensation under different contractual arrangements. Our theoretical analyses show that under some conditions it is optimal for the owner to choose the relational governance, while under other conditions it is optimal for the owner to adopt the professional governance. That is to say, the choice of governance modes is condition-dependent

  1. A novel mutation at the JK locus causing Jknull phenotype in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    MENG Yan; ZHOU Xueyan; LI Yang; ZHAO Dan; LIANG Shuyuan; ZHAO Xuejian; YANG Baoxue

    2005-01-01

    Urea transporters are a group of proteins that facilitate urea movement across biological membranes. Kidd blood group (JK antigen) and urea transporter of human erythrocytes are carried by the same protein UT-B. To investigate the molecular basis of the Jknull phenotype in the Chinese population, blood samples from Chinese individuals were screened using the 2 mol/L urea solution hemolysis test. Urea and water permeability of erythrocytes membrane was measured by stopped-flow light scattering. Genomic DNA was extracted from lymphocytes. UT-B gene of Jknull's family was analyzed using genomic PCR by primers designed to cover sequences of all exons and exon-intron boundaries in human UT-B gene. One Jknull subject was found from twenty thousand screened Chinese individuals, and it was confirmed that this individual did not express the erythrocyte urea transporter. Genomic sequence analysis of the Jknull individual showed that there were two point mutations, G→C, which is novel, and G→A, at the 3(-acceptor splice site (AG) of intron 5 of UT-B gene. Exon 6 is spliced out in the UT-B transcript due to either of these mutations. Water permeability in Jknull erythrocytes (Pf, ~0.00037 cm/s) was significantly lower than that in normal erythrocytes (Pf, ~0.00062 cm/s) after HgCl2 incubation, providing evidence for UT-B facilitated water transport in human erythrocytes.

  2. Clinical Characteristics of 5 Chinese LQTS Families and Phenotype-genotype Correlation

    Institute of Scientific and Technical Information of China (English)

    廉姜芳; 崔长琮; 薛小临; 黄辰; 崔翰斌

    2004-01-01

    Summary: In order to assess the clinical manifestations and electrocardiogram (ECG) characteristics of Chinese long QT syndrome (LQTS) patients and describe the phenotype-genotype correlation,the subjects from 5 congenital LQTS families underwent clinical detailed examination including resting body surface ECG. QT interval and transmural dispersion of repolarization (TDR) were manually measured. Five families were genotyped by linkage analysis (polymerase chain reacting-short tandem repeat, PCR-STR). The phenotype-genotype correlation was analyzed. Four families were LQT2, 1 family was LQT3. Twenty-eight gene carriers were (14 males and 14 females) identified from 5 families. The mean QTc and TDRc were 0. 56±0. 04 s (range 0.42 to 0.63) and 0.16±0.04 s (range 0. 09 to 0. 24) respectively. 35. 7 % (10/28) had normal to borderline QTc (≤0. 460 s). There was significant difference in QTc and TDRc between the patients with symptomatic LQTS and those with asymptomatic LQTS, and there was significant difference in TDRc between the asymptomatic patients and normal people also. A history of cardiac events was present in 50 %(14/28), including 9 with syncope, 2 with sudden death (SD) and occurred in the absence of β-blocker. Three SDs occurred prior to the diagnosis of LQTS and had no ECG record. Two out of 5 SDs (40 %) occurred as the first symptom. Typical LQT2 T wave pattern were found in 40 % (6/15) of all affected members. The appearing-normal T wave was found in one LQT3 family. Low penetrance of QTc and symptoms resulted in diagnostic challenge. ECG patterns and repolarization parameters may be used to predict the genotype in most families. Genetic test is very important for identification of gene carriers.

  3. A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Juanjuan; Yuan, Yimin; Lin, Bing; Feng, Hao; Li, Yan [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou 325027, Zhejiang (China); Dai, Xianning; Zhou, Huihui [Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou 325035, Zhejiang (China); Dong, Xujie [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou 325027, Zhejiang (China); Liu, Xiao-Ling, E-mail: lxl@mail.eye.ac.cn [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou 325027, Zhejiang (China); Guan, Min-Xin, E-mail: min-xin.guan@cchmc.org [Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou 325035, Zhejiang (China); Institute of Genetics, Zhejiang University, Hangzhou, Zhejiang 310012 (China); Division of Human Genetics, Cincinnati Children' s Hospital Medical Center, OH 45229 (United States)

    2012-03-23

    Highlights: Black-Right-Pointing-Pointer We report the characterization of a four-generation large Chinese family with ADOA. Black-Right-Pointing-Pointer We find a new heterozygous mutation c.C1198G in OPA1 gene which may be a novel pathogenic mutation in this pedigree. Black-Right-Pointing-Pointer We do not find any mitochondrial DNA mutations associated with optic atrophy. Black-Right-Pointing-Pointer Other factors may also contribute to the phenotypic variability of ADOA in this pedigree. -- Abstract: A large four-generation Chinese family with autosomal dominant optic atrophy (ADOA) was investigated in the present study. Eight of the family members were affected in this pedigree. The affected family members exhibited early-onset and progressive visual impairment, resulting in mild to profound loss of visual acuity. The average age-at-onset was 15.9 years. A new heterozygous mutation c.C1198G was identified by sequence analysis of the 12th exon of the OPA1 gene. This mutation resulted in a proline to alanine substitution at codon 400, which was located in an evolutionarily conserved region. This missense mutation in the GTPase domain was supposed to result in a loss of function for the encoded protein and act through a dominant negative effect. No other mutations associated with optic atrophy were found in our present study. The c.C1198G heterozygous mutation in the OPA1 gene may be a novel key pathogenic mutation in this pedigree with ADOA. Furthermore, additional nuclear modifier genes, environmental factors, and psychological factors may also contribute to the phenotypic variability of ADOA in this pedigree.

  4. [Mutation analysis of the pathogenic gene in a Chinese family with hereditary hemochromatosis].

    Science.gov (United States)

    Yuanfeng, Li; Hongxing, Zhang; Haitao, Zhang; Xiaobo, Peng; Lili, Bai; Fuchu, He; Zewu, Qiu; Gangqiao, Zhou

    2014-11-01

    Hereditary hemochromatosis (HHC) is a rare autosomal recessive disorder. We recruited a consanguineous Chinese family including the proband with HHC and other four members without HHC. Using whole-exome sequencing, we identified two homozygous mutations (c.G18C [p.Q6H] and c.GC962_963AA [p.C321X]) in the hemojuvelin gene (HJV) in the proband with HHC. No mutation was found in other four previously identified HHC related genes, HAMP, TFR2, FPN and HFE. The functional impact of p.Q6H mutation is weak whereas p.C321X, a premature termination mutation, results in a truncated HJV protein, which lacks the glycosylphosphatidylinositol (GPI) anchor domain. In addition to the mutations in HJV, other 12 homozygous mutations were identified in this patient. However, none of these mutations showed strong damaging impact and the mutated genes are not related to iron metabolism. Our in-house data further demonstrated that p.C321X is absent in the general Chinese population, suggesting that the homozygous mutation p.C321X in HJV is causative in the patient with HHC. Accordingly, all of the four members without HHC from the same family carried wild-type alleles or heterozygous mutations, but not the homozygous mutation in this site. Thus, we found for the first time that the homozygous mutation p.C321X in HJV can result in HHC, which will help genetic diagnosis and prenatal counseling for HHC.

  5. Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance.

    Science.gov (United States)

    Chi, Zhen-Ni; Hong, Jie; Yang, Jun; Zhang, Hui-Jie; Dai, Meng; Cui, Bin; Zhang, Yu; Gu, Wei-Qiong; Zhang, Yi-Fei; Liu, Qiao-Rui; Wang, Wei-Qing; Li, Xiao-Ying; Ning, Guang

    2007-08-01

    Hereditary fructose intolerance (HFI) is an inheritable disorder of fructose metabolism, inherited as an autosomal recessive disorder and caused by catalytic deficiency of aldolase B, which is critical for gluconeogenesis and fructose metabolism. The affected individuals develop severe hypoglycemia after taking foods containing fructose and cognate sugars. The exons 2-9 of the aldolase B (gene symbol ALDOB) gene from one Chinese HFI patient were amplified by the polymerase chain reaction (PCR), and direct sequence determination was applied to the amplified fragments. The mutation of a 4-bp (AACA) deletion (479_482 del) in exon 4 of ALDOB gene was identified in the patient, which had been reported to cause a frameshift at codon 118 and a truncated protein of 132 amino acids in the previous study. Then, the second case with the same homozygote deletion and eight cases with heterozygotes had been found through screening for the mutation c.479_482 del AACA in the whole family. This is the first report of HFI with the mutation c.479_482 del AACA in the ALDOB gene in a Chinese family.

  6. Family environment and adolescent psychological well-being, school adjustment, and problem behavior: a pioneer study in a Chinese context.

    Science.gov (United States)

    Shek, D T

    1997-03-01

    Chinese secondary school students (N = 365) responded to instruments measuring their family environment, psychological well-being, school adjustment, and problem behavior. Measures of the family environment include perceived paternal and maternal parenting styles, family functioning, and conflict with father and mother. Results from bivariate and canonical correlation analyses showed that in general, adolescents' perceptions of parenting styles, family functioning, and parent-adolescent conflict were significantly related to scores on measures of psychological well-being (general psychiatric morbidity, life satisfaction, purpose in life, hopelessness, and self-esteem), school adjustment (perceived academic performance and school conduct), and problem behavior (smoking and psychotropic drug abuse). The findings suggest that family factors play an important role in influencing the psychosocial adjustment, particularly the positive mental health, of Chinese adolescents.

  7. The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    Qinbo Yang; Changzheng Huang; Xiaoying Yang; Yinfu Feng; Qing Wang; Mugen Liu

    2008-01-01

    Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin. The main function of neurofibromin is down-regulating the biological activity of the proto-oncoprotein Ras by acting as a Ras-specific GTPase activating protein. In this study, we identified a Chinese family affected with neurofibromatosis type 1. The known gene NF1 associated with NF1 was studied by linkage analysis and by direct sequencing of the entire coding region and exon-intron boundaries of the NF1 gene. The R1947X mutation of NF1 was identified, which was co-segregated with affected individuals in the Chinese family, but not present in unaffected family members. This is the first report, which states that the R1947X mutation of NF1 may be one of reasons for neurofibromatosis type 1 in Chinese population.

  8. Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing

    Directory of Open Access Journals (Sweden)

    Jinxin Li

    2015-06-01

    Full Text Available Paramyotonia congenita (PC is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities. The disease is mostly caused by genetic mutations of the sodium channel, voltage-gated, type IV, alpha subunit (SCN4A gene. This study intended to systematically identify the causative genetic variations of a Chinese Han PC family. Seven members of this PC family, including four patients and three healthy controls, were selected for whole exome sequencing (WES using the Illumina HiSeq platform. Sequence variations were identified using the SoftGenetics program. The mutation R1448C of SCN4A was found to be the only causative mutation. This study applied WES technology to sequence multiple members of a large PC family and was the first to systematically confirm that the genetic change in SCN4A is the only causative variation in this PC family and the SCN4A mutation is sufficient to lead to PC.

  9. Genetic characterization of a Chinese family with familial idiopathic pulmonary fibrosis

    Institute of Scientific and Technical Information of China (English)

    ZHANG Xin; JIANG Jun; CHEN Wei-jun; SU Long-xiang; XIE Li-xin

    2012-01-01

    Background Idiopathic pulmonary fibrosis (IPF) is a chronic inflammatory interstitial lung disease with an unknown cause.Recent studies have shown that genetic factors play an important role in the pathogenesis of IPF.Methods To explore the genetic background of patients with IPF,a candidate gene approach was employed to screen for mutations in seven genes among members with familial IPF in mainland of China.Results Within six of the candidate genes,a total of 31 point mutations were identified.Among the missense mutations,the SFTPA1 exon 6 CAG>AAG (GIn238Lys) and SFTPB exon 2 CAC>CCC (His2Pro) mutations caused changes in the physical and chemical properties of amino acids.Each sequence alteration was identified in sporadic IPF patients,control specimens (pneumonia patients and healthy persons).Genotype frequencies and allele frequencies of codon 238 in exon 6 of SFTFA1 were noted significantly higher in patients with IPF than those in other two control subjects.The computational protein structure prediction by protein homology modeling confirmed differences in three-dimensional structure between mutant SFTPA1 and original SFTPA1.Conclusions Although the functions of the mutant candidate genes vary,these genes may ultimately result in damage to alveolar epithelial cells,initiating the progress of pulmonary fibrosis.In particular,while pathophysiological mechanisms need to be illustrated,the GIn238Lys missense variant of exon 6 in the SFTPA1 may have potential susceptibility in the development of IPF,which was shown in patients with sporadic IPF with a statistically higher frequency.

  10. Mutations analysis of STK11 ene in Chinese families with Peutz-Jeghers syndrome

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    Peutz-Jeghers syndrome (PJS) is an autosomal dominantly inherited disease characterized by multiple gastrointestinal hamartomatous polyps and melanin spots on lips and buccal mucosa, with an increased risk for various cancers. ThePJS gene, a potential tumour suppressor gene, encoding a serine/ threonie kinase (STK11), was mapped to chromosome 19p13.3. To investigate the mutations of STK11 gene in Chinese with PJS, we analyzed its coding sequence in fifteen patientsand twenty unaffected members of six families, including three multigenerational families with PJS and three sporadic families with PJS, by PCR, PCR-DHPLC and DNA sequencing techniques. Ten point mutations were found in the six families, including five missense mutations, one acceptor-splice site mutation, a nonsense mutation and three silent mutations. Our data showed that five missense mutations occurrd at codon 123 (CAG to CAT) in exon 2, codon 161 (ATT to AGT) in exon 4,codon 194 (GAC to GAG) in exon 4, codon 245 (CTC to TTC) in exon 5 and codon 354 (TTC to TTG) in exon 8. One kind of nonsense mutation was detected at codon 37(CAG to TAG) in exon 1. Furthermore, we found an intronic mutation at a splice-acceptor site: a one base substitution from AG to AA in intron 4. These mutations were not detected in 20 normal DNA samples. In three sporadic families, only in one patient, we detected a missense mutation in exon 5. In addition, we found three silent mutations, which may cause polymorphisms of STK11 gene in introns 1(+36), 3(-51) and 5(+27). These results indicated that the point mutation in STK11 might be involved in PJS pathogenesis. Mutation frequency is higher in the families suffering PJS in three or more generations than that of the sporadic cases.

  11. Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.

    Science.gov (United States)

    Banerjee, Santasree; Lei, Dongzhu; Liang, Shengran; Yang, Li; Liu, Saijun; Wei, Zhu; Tang, Jian Ping

    2016-12-14

    Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase activating protein. In our study, we present a clinical molecular study of four Chinese probands with NF1 from four unrelated families, showing extreme phenotypic variation with rare phenotype. In family 1, the proband is a 16 months old girl with multiple café-au-lait spots throughout her whole body. In family 2, the proband is a 6 months old girl with several café-au-lait spots mostly in her trunk and in lower limbs. In family 3, the proband is a 4 months old boy with several café-au-lait spots, tibial pseudarthrosis, and chronic iron deficiency anemia. In family 4, the proband is a 14 years old boy with multiple café-au-lait spots of variable sizes. Targeted exome capture based next generation sequencing and Sanger sequencing identified a novel mutation and three previously reported mutations in these four probands. These four mutations in NF1 gene were causing disease phenotypes in these four probands and was absent in unaffected family members and in healthy controls. According to the variant interpretation guideline of American College of Medical Genetics and Genomics (ACMG), these four mutations, are classified as "likely pathogenic". Our result expands the mutational spectrum of the NF1 gene associated with neurofibromatosis type1.

  12. A novel mutation in proprotein convertase subtilisin/kexin type 9 gene leads to familial hypercholesterolemia in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    LIN Jie; JIANG Zhi-sheng; WANG Lu-ya; LIU Shu; WANG Xu-min; YONG Qiang; YANG Ya; DU Lan-ping; PAN Xiao-dong; WANG Xu

    2010-01-01

    Background Familial hypercholesterolemia (FH) is an autosomal disorder associated with elevated plasma low density lipoprotein (LDL) levels leading to premature coronary heart disease (CHD). As a result of long-term hyperlipemia, FH patients will present endarterium thickening and atherosclerosis. In the present study we scanned the related gene of a clinically diagnosed autosomal genetic hypercholesterolemia family for the possible mutations and established eukaryotic expression vector of mutation of proprotein convertase subtilisin/kexin type 9 (PCSK9) gene with gene recombination technique to investigate the contributions of the variation on low density lipoprotein receptor (LDL-R) metabolism and function alternation.Methods Mutation detection was conducted for LDL-R, apolipoprotein B100 (apoB100) and PCSK9 gene with nucleotide sequencing in a Chinese FH family. The full-length cDNA of wild type PCSK9 gene (WT-PCSK9) was obtained from Bel-7402. Site mutagenesis was used to establish the recombinant eukaryotic expression vector carrying pathogenic type of PCSK9 gene and the inserted fragment was sequenced. With the blank vector as control, liposome transfection method was used to transfect the Bel-7402 cells with recombinant plasmid. The expression of LDL-R mRNA was examined by RT-PCR. PCSK9 and the expression of LDL-R protein were determined by Western blotting. Results The G→T mutation at the 918 nucleotide of PCSK9 gene resulted in the substitution of the arginine by a serine at the codon 306 of exon 6. After sequencing, it was confirmed that the inserted fragment of established expression vector had correct size and sequence and the mutant was highly expressed in Bel-7402 cells. There was no significant variation in the levels of LDL-R mRNA. LDL-R mature protein was decreased by 57% after the cells were transfected by WT-PCSK9 plasmid. Mature LDL-R was significantly decreased by 12% after the cells were transfected by R306S mutant as evidenced by gray scale

  13. Association and regulation of casein kinase 2 activity by adenomatous polyposis coli protein

    Science.gov (United States)

    Homma, Miwako Kato; Li, Dongxia; Krebs, Edwin G.; Yuasa, Yasuhito; Homma, Yoshimi

    2002-01-01

    Mutations in the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis coli and also sporadic colorectal cancer development. By using antibodies raised against the N-terminal region of APC protein, we have detected the variable masses of endogenous APC proteins in individual cell lines established from human colorectal carcinomas caused by nonsense mutations of the gene. Phosphorylation of immunoprecipitates of full-length and truncated APC were observed in in vitro kinase reaction, indicating association of APC with protein kinase activity. The kinase activity complexed with APC was sensitive to heparin and used GTP as phosphoryl donor, suggesting an involvement of casein kinase 2 (CK2). Both CK2α- and β-subunits were found to associate with APC in immunoprecipitates as well as in pull-down assays, with preferential interaction of APC with tetrameric CK2 holoenzyme. In synchronized cell populations, the association of APC with CK2 was cell cycle dependent, with the highest association in G2/M. Unexpectedly, APC immunoprecipitates containing full-length APC protein inhibited CK2 in vitro, whereas immunoprecipitates of truncated APC had little effect. This was confirmed by using recombinant APC, and the inhibitory region was localized to the C terminus of APC between residues 2086 and 2394. Overexpression of this fragment in SW480 cells suppressed cell proliferation rates as well as tumorigenesis. These results demonstrate a previously uncharacterized functional interaction between the tumor suppressor protein APC and CK2 and suggest that growth-inhibitory effects of APC may be regulated by inhibition of CK2. PMID:11972058

  14. High resolution genetic map of the adenomatous polyposis coli gene (APC) region

    Energy Technology Data Exchange (ETDEWEB)

    Olschwang, S.; Laurent-Puig, P.; Melot, T. [Institut Curie, Paris (France)

    1995-05-08

    Familial adenomatous polyposis coli (APC) is a dominantly inherited colorectal cancer susceptibility disease caused by mutation in a gene called APC located on chromosome 5q21. Presymptomatic diagnosis of this condition is recommended because it enables restriction of the efficient but demanding prevention program to those relatives that are genetically affected. The large size of the APC gene makes the direct search for the casual alteration difficult to implement in routine diagnostic laboratories. Because APC appears to be genetically homogeneous with alteration in a single locus causing the disease, cosegregation analysis may represent an alternative efficient method for presymptomatic diagnosis. However, the reliability of the risk estimation by linkage analysis in APC families is hampered by the lack of a short range genetic map of the APC locus. A combined approach including genotyping of 65 APC families, analysis of the CEPH database, and complementary typing of both APC and CEPH families has made it possible to derive the following genetic map: Centromere-[D5S82-D5S49]-0.02-D5S122-0.01-D5S136-0.01-D5S135-0.02-[APC-D5S346-MCC]-0.04-[D5S81-D5S64]-Telomere. This order, which differs from previously proposed genetic maps, is fully compatible with recent physical mapping data. These data should contribute to increase the reliability of the presymptomatic test for APC. 42 refs., 1 fig., 3 tabs.

  15. SOLITARY VILLO ADENOMATOUS POLYP WITH CARCINOMATOUS CHANGES – RECTUM: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Divvya

    2014-07-01

    Full Text Available olitary villo-adenomatous polyp in the rectum with focal dysplastic changes involving both adenomatous and villous component is very uncommon. This 60 year old male patient presented with intermittent hematochezia. Colonoscopy did not reveal any other polypoidal lesion in the colon.

  16. The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma

    Indian Academy of Sciences (India)

    Xiao-Ping Qi; Rong-Xin Zhang; Jin-Lin Cao; Zhen-Guang Chen; Hang-Yang Jin; Ren-Rong Yang

    2014-06-01

    We report intracellular RET mutation in a Han Chinese pedigree with familial medullary thyroid carcinoma (FMTC). Direct sequencing of RET proto-oncogene identified a missense c.2671T > G (p.S891A) mutation in 6 of 14 family members. The single nucleotide polymorphisms c. 135A > G (p.A45A), IVS4+48A >G, c. 1296A > G (p.A432A), c. 2071G > A (p.G691S), c. 2307T > G (p.L769L) and a variant c. 833C > A (p.T278N) were also found in 6 carriers. Among 5 of the 6 carriers presented medullary thyroid carcinoma (MTC) as an isolated clinical phenotype, with elevated basal serum calcitonin (Ct). Two underwent non-normative thyroidectomy either two or four times without physician awareness or diagnosis of this disease at initial treatment, but with elevated Ct. One with elevated pre-Ct accepted total thyroidectomy (TT) with modified bilateral neck dissection (MBiND), and whose seventh posterior rib MTC metastases was confirmed 5 months after surgery. Moreover, results of two affected individuals with elevated Ct were reduced to normal after TT with MBiND or prophylactic VI compartmental dissection. However, only another carrier with the variant p.T278N had slightly elevated Ct rejected surgery and was strictly monitored. Given these case results, we suggest that screening of RET and pre-surgical Ct levels in the management of MTC patients is essential for earlier diagnosis and more normative initial treatment, that FMTC patients with cervical lymph nodes metastases may be cured by TT with MBiND, and that prophylactic VI compartmental dissection should be avoided when Ct levels are low.

  17. Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment

    Institute of Scientific and Technical Information of China (English)

    HAN Bing; CHENG Jing; YANG Shu-zhi; CAO Ju-yang; SHEN Wei-dong; JI Fei; KANG Dong-yang; ZHANG Xin; DAI Pu; YUAN Hui-jun

    2009-01-01

    Background X-linked hearing impairment is clinically and genetically a heterogeneous disease.Although many disorders manifest with hearing loss,a limited number of sex-linked loci and only one gene (POU3F4) have been shown to be implicated in X-linked non-syndromic hearing impairment.In the present study,we have performed a clinical and genetic analysis of a Chinese family with X-linked non-syndromic hearing loss,with emphasis on audiological findings and genomic mapping.Methods The clinical features of Family JX01 were evaluated by physical and audiometric examination in eighteen family members.Mutation screening of POU3F4 was identified by polymerase chain reaction (PCR) amplification and sequencing.Molecular evaluation consisted of X-chromosome wide genotyping by microsatellite makers (STR),followed by analyzing using MLINK computer program.Results Five affected males demonstrated bilateral,symmetrical sensorineural and profound hearing loss.The hearing impairment started prelingual.The female carriers did not have any complain of hearing loss,however,two of them were tested with milder loss with high frequency.No causative mutations in POU3F4 gene were detected by DNA sequencing.Linkage analysis indicated that the responsible gene was linked to locus DXS1227 (maximum lod score=2.04 at θ=0).Conclusions The affected males in Family JX01 have profound prelingual sensorineural hearing impairment,In addition,two female carriers showed mild to moderate hearing losses.However,none of females complained of any hearing loss.Analysis of hereditary deafness in this family mapped most compatibly to the Xq27.2.

  18. Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.

    Science.gov (United States)

    Qu, Ling-Hui; Jin, Xin; Xu, Hai-Wei; Li, Shi-Ying; Yin, Zheng-Qin

    2015-02-01

    Usher syndrome (USH) is the most common cause of combined blindness and deafness inherited in an autosomal recessive mode. Molecular diagnosis is of great significance in revealing the molecular pathogenesis and aiding the clinical diagnosis of this disease. However, molecular diagnosis remains a challenge due to high phenotypic and genetic heterogeneity in USH. This study explored an approach for detecting disease-causing genetic mutations in candidate genes in five index cases from unrelated USH families based on targeted next-generation sequencing (NGS) technology. Through systematic data analysis using an established bioinformatics pipeline and segregation analysis, 10 pathogenic mutations in the USH disease genes were identified in the five USH families. Six of these mutations were novel: c.4398G > A and EX38-49del in MYO7A, c.988_989delAT in USH1C, c.15104_15105delCA and c.6875_6876insG in USH2A. All novel variations segregated with the disease phenotypes in their respective families and were absent from ethnically matched control individuals. This study expanded the mutation spectrum of USH and revealed the genotype-phenotype relationships of the novel USH mutations in Chinese patients. Moreover, this study proved that targeted NGS is an accurate and effective method for detecting genetic mutations related to USH. The identification of pathogenic mutations is of great significance for elucidating the underlying pathophysiology of USH.

  19. Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia.

    Science.gov (United States)

    Bi, Rui; Tang, Jinsong; Zhang, Wen; Li, Xiao; Chen, Shi-Yi; Yu, Dandan; Chen, Xiaogang; Yao, Yong-Gang

    2016-03-01

    The relationship between mitochondrial DNA (mtDNA) variants and schizophrenia has been strongly debated. To test whether mtDNA variants are involved in schizophrenia in Han Chinese patients, we sequenced the entire mitochondrial genomes of probands from 11 families with a family history and maternal inheritance pattern of schizophrenia. Besides the haplogroup-specific variants, we found 11 nonsynonymous private variants, one rRNA variant, and one tRNA variant in 5 of 11 probands. Among the nonsynonymous private variants, mutations m.15395 A>G and m.8536 A>G were predicted to be deleterious after web-based searches and in silico program affiliated analysis. Functional characterization further supported the potential pathogenicity of the two variants m.15395 A>G and m.8536 A>G to cause mitochondrial dysfunction at the cellular level. Our results showed that mtDNA variants were actively involved in schizophrenia in some families with maternal inheritance of this disease.

  20. A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing

    Directory of Open Access Journals (Sweden)

    Xiaofei Xiu

    2014-01-01

    Full Text Available Alport syndrome (AS is a monogenic disease of the basement membrane (BM, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies. It is caused by mutations in the collagen type IV alpha-3 gene (COL4A3, the collagen type IV alpha-4 gene (COL4A4, and the collagen type IV alpha-5 gene (COL4A5, which encodes type IV collagen α3, α4, and α5 chains, respectively. To explore the disease-related gene in a four-generation Chinese Han pedigree of AS, exome sequencing was conducted on the proband, and a novel deletion mutation c.499delC (p.Pro167Glnfs*36 in the COL4A5 gene was identified. This mutation, absent in 1,000 genomes project, HapMap, dbSNP132, YH1 databases, and 100 normal controls, cosegregated with patients in the family. Neither sensorineural hearing loss nor typical COL4A5-related ocular abnormalities (dot-and-fleck retinopathy, anterior lenticonus, and the rare posterior polymorphous corneal dystrophy were present in patients of this family. The phenotypes of patients in this AS family were characterized by early onset-age and rapidly developing into end-stage renal disease (ESRD. Our discovery broadens the mutation spectrum in the COL4A5 gene associated with AS, which may also shed new light on genetic counseling for AS.

  1. Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing

    OpenAIRE

    Jiang,Bo; chen, Yanhua; Baisheng XU; Hong, Nan; Liu, Rongrong; Qi, Ming; Shen, Liping

    2017-01-01

    Congenital cataract is both clinically diverse and genetically heterogeneous. To investigate the underlying genetic defect in three-generations of a Chinese family with autosomal dominant congenital cataracts, we recruited family members who underwent comprehensive ophthalmic examinations. A heterozygous missense mutation c.634G > C (p.G212R) substitution was identified in the MIP gene through target region capture sequencing. The prediction results of PolyPhen-2 and SIFT indicated that this ...

  2. The Effect of Implicit–Explicit Followership Congruence on Benevolent Leadership: Evidence from Chinese Family Firms

    Science.gov (United States)

    Wang, Xiao; Peng, Jian

    2016-01-01

    Benevolent leadership, a traditional Chinese leadership style generated under the influence of Confucianism, has been under growing discussion since its proposal. However, existing research has focused mainly on the consequences of benevolent leadership, and research probing into its antecedents is scarce. To fill such research gap, the current study aims to explore the effect of the congruence between implicit positive followership prototype (PFP) and explicit positive followership trait (PFT) on benevolent leadership. Polynomial regression combined with the response surface methodology was used to test the hypotheses herein. The results, based on a sample of 241 leader–follower dyads from four Chinese family firms, indicated the following: (1) benevolent leadership is higher when leader PFP is congruent with follower PFT than when they are incongruent; (2) in cases of congruence, benevolent leadership is higher when leader PFP and follower PFT are both high rather than low; (3) in the case of incongruence, there is no significant difference for the level of benevolent leadership in two scenarios: “low leader PFP – high follower PFT” and “high leader PFP – low follower PFT”. PMID:27375514

  3. Parent engagement in youth drug prevention in Chinese families: advancement in program development and evaluation.

    Science.gov (United States)

    Tsang, Sandra K M

    2011-01-01

    The escalating youth drug abuse problem in Hong Kong has attracted intense attention from the government, schools, and youth service professionals. Most preventive efforts have focused directly on positive youth development, very often through school programs delivered to secondary school students. There have been limited efforts to engage parents even though it is obvious that the family is actually the primary context of children and youth development. This paper will assert the importance of parental engagement in youth drug-prevention work, discuss some barriers in such parental involvement, present some promising local attempts and their strengths and limitations, and propose that sustained efforts are needed to build up theory-driven and evidence-based resources for Chinese communities on the subject.

  4. The localization of type 2 diabetes susceptibility gene loci in northern Chinese Han families

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    We conducted a genome-wide scan,in which 358 well distributed fluorescent dye-labe- led microsatellite marker sets were applied in 32 Chinese Han type 2 diabetes families from Northern China to search for the susceptibility gene loci.The data collected from screening all the chromosomes of genome were genotyped by using genescan and genotyping software,then,parametric and non-parametric multipoint test,and affected sib-pair analysis as well,were used to analyze the data.We identified some susceptibility gene loci residing in chromosomes 1,12,18,20,respectively,or precisely,located around D1S214,D1S207,D1S218,D1S235,D12S336,D18S61 and D20S118.The comparison of this result with those from other regions and races reflected the complexity and heterogeneity of type 2 diabetes.

  5. Parent Engagement in Youth Drug Prevention in Chinese Families: Advancement in Program Development and Evaluation

    Directory of Open Access Journals (Sweden)

    Sandra K. M. Tsang

    2011-01-01

    Full Text Available The escalating youth drug abuse problem in Hong Kong has attracted intense attention from the government, schools, and youth service professionals. Most preventive efforts have focused directly on positive youth development, very often through school programs delivered to secondary school students. There have been limited efforts to engage parents even though it is obvious that the family is actually the primary context of children and youth development. This paper will assert the importance of parental engagement in youth drug-prevention work, discuss some barriers in such parental involvement, present some promising local attempts and their strengths and limitations, and propose that sustained efforts are needed to build up theory-driven and evidence-based resources for Chinese communities on the subject.

  6. Reputation,Accounting Information and Debt Contracts in Chinese Family Firms

    Institute of Scientific and Technical Information of China (English)

    Hao Li

    2010-01-01

    This paper provides evidence to show that in the presence of imperfect formal institutions there is both a substitutional and a complementary relationship between accounting information and reputation, an informal institution. Empirical results using a sample of family firms listed in the Chinese A-share stock market from 2004 to 2007 show that in China, where the legal environment is far from perfect, the complementary relationship between reputation and accounting information is more pronounced than is the substitutional relationship. Thus, the aggregate effect is that a better reputation improves the usefulness of accounting information in debt contracts. Besides the aggregate effect, this paper also provides evidence of the substitutional and complementary relationships between reputation and accounting separately.

  7. Understanding Hong Kong Chinese Families' Experiences of an Autism/ASD Diagnosis.

    Science.gov (United States)

    Tait, Kathleen; Fung, Francis; Hu, Aihua; Sweller, Naomi; Wang, Wei

    2016-04-01

    Little is known about the experience of Chinese parents of children diagnosed with autism spectrum disorders (ASD) living in the Hong Kong Special Administrative Region. Seventy-five parents of children (aged 6 months-18 years) with ASD diagnoses completed the Family Quality of Life Scale. Forty-five parents from the original surveyed cohort, also participated in semi-structured interviews. Parents' perceptions of their child's disability were influenced both by their cultural background and by the limited and expensive, pre- and post-diagnostic services available. Longer waiting times to diagnosis were associated with lower emotional well-being and perceived disability-related support. Clinicians are encouraged to become part of the support network for parents of children with ASD, to help parents to adjust to caring for their child.

  8. Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias

    Institute of Scientific and Technical Information of China (English)

    Jian-Wen Chen; Li Zhao; Feng Zhang; Lan Li; Yu-Hang Gu; Jing-Yuan Zhou; Hui Zhang

    2015-01-01

    Background:Spinocerebellar ataxias (SCAs) are a group ofneurodegenerative disorders that primarily cause the degeneration in the cerebellum,spinal cord,and brainstem.We study the clinical characteristics,radiological features and gene mutation in Chinese families with SCAs.Methods:In this study,we investigated 10 SCAs Chinese families with SCA1,SCA3/Machado-Joseph disease (MJD),SCA7,SCAB.There were 27 people who were genetically diagnosed as SCA,of which 21 people showed clinical symptoms,and 6 people had no clinical phenotype that we called them presymptomatic patients.In addition,3 people with cerebellar ataxia and cataracts were diagnosed according to the Harding diagnostic criteria but failed to be recognized as SCAs on genetic testing.Clinical characteristic analyses of each type of SCAs and radiological examinations were performed.Results:We found that SCA3/MJD was the most common subtype in Han population in China,and the ratio of the pontine tegmentum and the posterior fossa area was negatively correlated with the number of cytosine-adenine-guanine (CAG) repeats;the disease duration was positively correlated with the International Cooperative Ataxia Rating Scale score;and the CAG repeats number of abnormal alleles was negatively correlated with the age of onset.Conclusions:Collectively our study is a systematic research on SCAs in China,which may help for the clinical diagnosis and prenatal screening of this disease,and it may also aid toward better understanding of this disease.

  9. Evaluation of four commonly used DNA barcoding Loci for chinese medicinal plants of the family schisandraceae.

    Science.gov (United States)

    Zhang, Jian; Chen, Min; Dong, Xiaoyu; Lin, Ruozhu; Fan, Jianhua; Chen, Zhiduan

    2015-01-01

    Many species of Schisandraceae are used in traditional Chinese medicine and are faced with contamination and substitution risks due to inaccurate identification. Here, we investigated the discriminatory power of four commonly used DNA barcoding loci (ITS, trnH-psbA, matK, and rbcL) and corresponding multi-locus combinations for 135 individuals from 33 species of Schisandraceae, using distance-, tree-, similarity-, and character-based methods, at both the family level and the genus level. Our results showed that the two spacer regions (ITS and trnH-psbA) possess higher species-resolving power than the two coding regions (matK and rbcL). The degree of species resolution increased with most of the multi-locus combinations. Furthermore, our results implied that the best DNA barcode for the species discrimination at the family level might not always be the most suitable one at the genus level. Here we propose the combination of ITS+trnH-psbA+matK+rbcL as the most ideal DNA barcode for discriminating the medicinal plants of Schisandra and Kadsura, and the combination of ITS+trnH-psbA as the most suitable barcode for Illicium species. In addition, the closely related species Schisandra rubriflora Rehder & E. H. Wilson and Schisandra grandiflora Hook.f. & Thomson, were paraphyletic with each other on phylogenetic trees, suggesting that they should not be distinct species. Furthermore, the samples of these two species from the southern Hengduan Mountains region formed a distinct cluster that was separated from the samples of other regions, implying the presence of cryptic diversity. The feasibility of DNA barcodes for identification of geographical authenticity was also verified here. The database and paradigm that we provide in this study could be used as reference for the authentication of traditional Chinese medicinal plants utilizing DNA barcoding.

  10. Evaluation of four commonly used DNA barcoding Loci for chinese medicinal plants of the family schisandraceae.

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    Jian Zhang

    Full Text Available Many species of Schisandraceae are used in traditional Chinese medicine and are faced with contamination and substitution risks due to inaccurate identification. Here, we investigated the discriminatory power of four commonly used DNA barcoding loci (ITS, trnH-psbA, matK, and rbcL and corresponding multi-locus combinations for 135 individuals from 33 species of Schisandraceae, using distance-, tree-, similarity-, and character-based methods, at both the family level and the genus level. Our results showed that the two spacer regions (ITS and trnH-psbA possess higher species-resolving power than the two coding regions (matK and rbcL. The degree of species resolution increased with most of the multi-locus combinations. Furthermore, our results implied that the best DNA barcode for the species discrimination at the family level might not always be the most suitable one at the genus level. Here we propose the combination of ITS+trnH-psbA+matK+rbcL as the most ideal DNA barcode for discriminating the medicinal plants of Schisandra and Kadsura, and the combination of ITS+trnH-psbA as the most suitable barcode for Illicium species. In addition, the closely related species Schisandra rubriflora Rehder & E. H. Wilson and Schisandra grandiflora Hook.f. & Thomson, were paraphyletic with each other on phylogenetic trees, suggesting that they should not be distinct species. Furthermore, the samples of these two species from the southern Hengduan Mountains region formed a distinct cluster that was separated from the samples of other regions, implying the presence of cryptic diversity. The feasibility of DNA barcodes for identification of geographical authenticity was also verified here. The database and paradigm that we provide in this study could be used as reference for the authentication of traditional Chinese medicinal plants utilizing DNA barcoding.

  11. Novel ATPase Cu(2+ transporting beta polypeptide mutations in Chinese families with Wilson's disease.

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    Shaojuan Gu

    Full Text Available Wilson's disease (WD is an autosomal recessive inherited disorder caused by mutations in the ATPase Cu(2+ transporting beta polypeptide gene (ATP7B. The detailed metabolism of copper-induced pathology in WD is still unknown. Gene mutations as well as the possible pathways involved in the ATP7B deficiency were documented. The ATP7B gene was analyzed for mutations in 18 Chinese Han families with WD by direct sequencing. Cell viability and apoptosis analysis of ATP7B small interfering RNA (siRNA-treated human liver carcinoma (HepG2 cells were measured by 3-[4,5-dimethylthiazol-2-yl]-2,5-diphenyltetrazolium bromide (MTT assay and Hoechst 33342 staining. Finally, the expression of B-cell CLL/lymphoma 2 (BCL2, BCL2-associated X protein (BAX, sterol regulatory element binding protein 1 (SREBP1, and minichromosome maintenance protein 7 (MCM7 of ATP7B siRNA-treated cells were tested by real-time polymerase chain reaction (real-time PCR and Western blot analysis. Twenty different mutations including four novel mutations (p.Val145Phe, p.Glu388X, p.Thr498Ser and p.Gly837X in the ATP7B gene were identified in our families. Haplotype analysis revealed that founder effects for four mutations (p.Arg778Leu, p.Pro992Leu, p.Ile1148Thr and p.Ala1295Val existed in these families. Transfection of HepG2 cells with ATP7B siRNA resulted in decreased mRNA expression by 86.3%, 93.1% and 90.8%, and decreased protein levels by 58.5%, 85.5% and 82.1% at 24, 48 and 72 hours, respectively (All P<0.01. In vitro study revealed that the apoptotic, cell cycle and lipid metabolism pathway may be involved in the mechanism of WD. Our results revealed that the genetic cause of 18 Chinese families with WD and ATP7B deficiency-induce apoptosis may result from imbalance in cell cycle and lipid metabolism pathway.

  12. Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.

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    Gu, Shaojuan; Yang, Huarong; Qi, Yong; Deng, Xiong; Zhang, Le; Guo, Yi; Huang, Qing; Li, Jing; Shi, Xiaoliu; Song, Zhi; Deng, Hao

    2013-01-01

    Wilson's disease (WD) is an autosomal recessive inherited disorder caused by mutations in the ATPase Cu(2+) transporting beta polypeptide gene (ATP7B). The detailed metabolism of copper-induced pathology in WD is still unknown. Gene mutations as well as the possible pathways involved in the ATP7B deficiency were documented. The ATP7B gene was analyzed for mutations in 18 Chinese Han families with WD by direct sequencing. Cell viability and apoptosis analysis of ATP7B small interfering RNA (siRNA)-treated human liver carcinoma (HepG2) cells were measured by 3-[4,5-dimethylthiazol-2-yl]-2,5-diphenyltetrazolium bromide (MTT) assay and Hoechst 33342 staining. Finally, the expression of B-cell CLL/lymphoma 2 (BCL2), BCL2-associated X protein (BAX), sterol regulatory element binding protein 1 (SREBP1), and minichromosome maintenance protein 7 (MCM7) of ATP7B siRNA-treated cells were tested by real-time polymerase chain reaction (real-time PCR) and Western blot analysis. Twenty different mutations including four novel mutations (p.Val145Phe, p.Glu388X, p.Thr498Ser and p.Gly837X) in the ATP7B gene were identified in our families. Haplotype analysis revealed that founder effects for four mutations (p.Arg778Leu, p.Pro992Leu, p.Ile1148Thr and p.Ala1295Val) existed in these families. Transfection of HepG2 cells with ATP7B siRNA resulted in decreased mRNA expression by 86.3%, 93.1% and 90.8%, and decreased protein levels by 58.5%, 85.5% and 82.1% at 24, 48 and 72 hours, respectively (All Pmechanism of WD. Our results revealed that the genetic cause of 18 Chinese families with WD and ATP7B deficiency-induce apoptosis may result from imbalance in cell cycle and lipid metabolism pathway.

  13. Genome-wide identification, classification, and analysis of heat shock transcription factor family in Chinese cabbage (Brassica rapa pekinensis).

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    Huang, X Y; Tao, P; Li, B Y; Wang, W H; Yue, Z C; Lei, J L; Zhong, X M

    2015-03-27

    Chinese cabbage (Brassica rapa ssp. pekinensis) is one of the most important vegetable crops grown worldwide, and various methods exist for selection, propagation, and cultivation. The entire Chinese cabbage genome has been sequenced, and the heat shock transcription factor family (Hsfs) has been found to play a central role in plant growth and development and in the response to biotic and abiotic stress conditions, particularly in acquired thermotolerance. We analyzed heat tolerance mechanisms in Chinese cabbage. In this study, 30 Hsfs were identified from the Chinese cabbage genome database. The classification, phylogenetic reconstruction, chromosome distribution, conserved motifs, expression analysis, and interaction networks of the Hsfs were predicted and analyzed. Thirty BrHsfs were classified into 3 major classes (class A, B, and C) according to their structural characteristics and phylogenetic comparisons, and class A was further subdivided into 8 subclasses. Distribution mapping results showed that Hsf genes were located on 10 Chinese cabbage chromosomes. The expression profile indicated that Hsfs play differential roles in 5 organs in Chinese cabbage, and likely participate in the development of underground parts and regulation of reproductive growth. An orthologous gene interaction network was constructed, and included MBF1C, ROF1, TBP2, CDC2, and HSP70 5 genes, which are closely related to heat stress. Our results contribute to the understanding of the complexity of Hsfs in Chinese cabbage and provide a basis for further functional gene research.

  14. Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families.

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    Zhang, Juanjuan; Zhou, Xiangtian; Zhou, Jian; Li, Chengwu; Zhao, Fuxin; Wang, Yan; Meng, Yanzi; Wang, Jiying; Yuan, Meixia; Cai, Wanshi; Tong, Yi; Sun, Yan-Hong; Yang, Li; Qu, Jia; Guan, Min-Xin

    2010-09-01

    We report here the clinical, genetic, and molecular evaluations of four Han Chinese families with Leber's hereditary optic neuropathy. Thirty-one (20 males/11 females) of 83 matrilineal relatives in these families exhibited the variable severity and age-at-onset in visual impairment. The average age-of-onset of vision loss was 22years old. Strikingly, these penetrances of visual impairment in these Chinese families were higher than those in other 11 Chinese pedigrees carrying the only ND4 G11778A mutation. Molecular analysis identified the known G11778A mutation and distinct sets of variants belonging to the Asian haplogroups M10a and M7c2. Of these, the T14502C mutation caused the substitution of a highly conserved isoleucine for valine at position 58 in ND6. This mutation has been associated with LHON in other Chinese families with very low penetrance of LHON. Thus, the deficient activities of complex I, caused by G11778A mutation, would be worsened by the T14502C mutation in these four Chinese families. As a result, mitochondrial dysfunctions would lead to the high penetrance and expressivity of visual loss in these Chinese families carrying both G11778A and T14502C mutations than other 11 Chinese families carrying only G11778A mutation. These data suggested that the T14502C variant may modulate the phenotypic manifestation of the G11778A mutation in these Chinese pedigrees.

  15. Linkage analysis of five Chinese families with arrhythmogenic right ventricular cardiomyopathy using microsatellite genetic markers

    Institute of Scientific and Technical Information of China (English)

    黄峻; 杨春梅; 马立隽; 单其俊; 许迪; 华子春; 曹克将

    2003-01-01

    Objective To explore the linkage relationship between specific genetic markers and arrhythmogenic right ventricular cardiomyopathy (ARVC) in Chinese pedigrees.Methods The microsatellite genetic markers D2S152, D14S252, and D10S1664 were studied for their linkages to ARVC in five Chinese ARVC pedigrees and a normal population of 121 Chinese individuals. Genomic DNA of the pedigrees and normal population was amplified using PCR techniques. Denaturing polyacrylamide sequencing gel (4%) electrophoresis was used to detect microsatellite repeat polymorphisms. Gels were silver-stained. A classical linkage analysis program was used assuming models of autosomal dominance and recession. Results The logarithm of the odds (LOD) scores of D2S152 with ARVC in LW, WD, DS, LC and TY pedigrees were 2.174, -0.589, -∞, - (indicating that linkage is not supported in this mode), and -∞ respectively in autosomal dominant model (recombination fraction=0.000 respectively)and were -∞, -∞, -∞, -∞, and 0.182 respectively in the autosomal recessive model. The LOD scores of D14S252 with ARVC in LW, WD, DS, LC and TY pedigrees were -, -, -∞, -, and 0 respectively in autosomal dominant model, and were -∞, -0.812, -∞, -∞, and 0.087 respectively in autosomal recessive model. The LOD scores of D2S152 with ARVC in LW, WD, DS, LC and TY pedigrees were -, -0.539, -, and 0.602 respectively in autosomal dominant model and were -, -∞, -∞, -∞, and -∞ respectively in autosomal recessive model. Conclusions The LOD score for D2S152 in the LW pedigree was 2.174, indicating that the chance of linkage is about 150∶ 1. This suggests that there is a possible ARVC-related gene near this marker. There were no clear linkage relationships between ARVC and D10S1664 and D14S252 in this family, and no linkages between ARVC and any of the three genetic markers in the other four families. These results also suggest that there is genetic heterogeneity in LW and in the other pedigrees.

  16. Glycoprotein expression by adenomatous polyps of the colon

    Science.gov (United States)

    Roney, Celeste A.; Xie, Jianwu; Xu, Biying; Jabour, Paul; Griffiths, Gary; Summers, Ronald M.

    2008-03-01

    Colon cancer is the second leading cause of cancer related deaths in the United States. Specificity in diagnostic imaging for detecting colorectal adenomas, which have a propensity towards malignancy, is desired. Adenomatous polyp specimens of the colon were obtained from the mouse model of colorectal cancer called adenomatous polyposis coli-multiple intestinal neoplasia (APC Min). Histological evaluation, by the legume protein Ulex europaeus agglutinin I (UEA-1), determined expression of the glycoprotein α-L-fucose. FITC-labelled UEA-1 confirmed overexpression of the glycoprotein by the polyps on fluorescence microscopy in 17/17 cases, of which 13/17 included paraffin-fixed mouse polyp specimens. In addition, FITC-UEA-1 ex vivo multispectral optical imaging of 4/17 colonic specimens displayed over-expression of the glycoprotein by the polyps, as compared to non-neoplastic mucosa. Here, we report the surface expression of α-L-fucosyl terminal residues by neoplastic mucosal cells of APC specimens of the mouse. Glycoprotein expression was validated by the carbohydrate binding protein UEA-1. Future applications of this method are the development of agents used to diagnose cancers by biomedical imaging modalities, including computed tomographic colonography (CTC). UEA-1 targeting to colonic adenomas may provide a new avenue for the diagnosis of colorectal carcinoma by CT imaging.

  17. Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing

    Institute of Scientific and Technical Information of China (English)

    Jia-Wei Liu; Asan; Jun Sun; Sergio Vano-Galvan; Feng-Xia Liu; Xiu-Xiu Wei; Dong-Lai Ma

    2016-01-01

    Background: The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules.Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria are two major types.While clinical and histological presentations are similar in these two diseases, genetic diagnosis is critical in the differential diagnosis of these entities.Methods: Three patients initially diagnosed with DUH were included.The gene test was carried out by targeted gene sequencing.All mutations detected on ADAR1 and ABCB6 genes were analyzed according to the frequency in control database, the mutation types, and the published evidence to determine the pathogenicity.Results: Family pedigree and clinical presentations were reported in 3 patients from two Chinese families.All patients have prominent cutaneous dyschromatoses involving the whole body without systemic complications.Different pathogenic genes in these patients with similar phenotype were identified: One novel mutation on ADAR1 (c.1325C>G) and one recurrent mutation in ABCB6 (c.1270T>C), which successfully distinguished two diseases with the similar phenotype.Conclusion: Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases.

  18. Two novel STK11 mutations in three Chinese families with Peutz-Jeghers syndrome

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    ZUO Ya-gang; XU Ke-jian; SU Bin; Michael G. Ho; LIU Yue-hua

    2007-01-01

    Background Peutz-Jeghers syndrome (PJS) is an autosomal dominantly inherited disease. STK11/LKB1 gene germline mutations have been identified as responsible for PJS. In our study, we investigated the molecular basis of PJS and evaluated correlation between the STK11 mutations and the Chinese population.Methods We collected three pedigrees of PJS and screened the 9 exons and their flanking intronic sequences of STK11/LKB1 gene in the probands and normal individuals in the families using polymerase chain reaction (PCR) and direct sequencing.Results Sequencing of the STK11 gene in the probands of 3 families revealed two novel mutations (c180C→G and c998-1002delGCAGC) in exon 1 and exon 8, respectively. The mutation of c180C→G resulted in a premature termination codon. The other mutation, a deletion of five nucleotides (998-1002delGCAGC) in exon 8, predicted to generate a translational frameshift and a termination at codon 1070.Conclusions The growing number of mutations in PJS pedigrees suggests the molecular basis of PJS. STK11 gene mutation can be detected in most patients with PJS.

  19. Second-hand smoke exposure and household smoking bans in Chinese families: a qualitative study.

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    Abdullah, Abu S; Hua, Fu; Xia, Xiao; Hurlburt, Sarah; Ng, Patrick; MacLeod, William; Siegel, Michael; Griffiths, Sian; Zhang, Zhiyong

    2012-07-01

    As workplace smoking restrictions spread, smoking in the home is becoming the predominant source of exposure to second-hand smoke (SHS) among children and other non-smokers in the household. This study explored issues around children's exposure to SHS. Focus group discussions (FGDs) and in-depth interviews (IDI) were conducted among 31 Chinese households in urban Shanghai, China. All FGDs/IDIs were audio recorded and analysed thematically. The findings suggest that there are gaps in knowledge of the health consequences of smoking and SHS among the participants. Although there was a lack of knowledge about the health risk of exposure to SHS, most were willing to protect their child from the SHS exposure. In 16/31 households, families had partial home-smoking restrictions; there were no complete restrictions in any of the smokers' homes. Many families do not openly discuss smoking or smoking restrictions at home. Barriers to adopting a smoke-free home included the social acceptability of smoking (22/31), hosting social gatherings at home, which would involve smoking (12/31), authoritative attitudes of the husband or father-in-law (10/31), and difficulties with visitors who smoke (7/31). Most (28/31) participants stated they would accept a counselling intervention to reduce SHS exposure to children and suggested various measures to implement it. The findings from this intervention have implications for designing intervention strategies to reduce SHS exposure at home among children in China.

  20. Clinical and genetic study of a Chinese family with spinocerebellar ataxia type 7

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    Han Yan

    2010-01-01

    Full Text Available Spinocerebellar ataxia 7 (SCA7 is a rare disease, and only few SCA7 families have been reported, especially from East Asia. Clinical features of a genetically confirmed SCA7 Chinese family were evaluated. The onset of the disease varied from 4 years to 48 years, and the initial presenting feature was cerebellar ataxia or visual impairment, or both. There were abnormal findings on fundus photography, electroretinogram, flash visual evoked potential and oscillatory potentials. Abnormal mitochondria were also found in skeletal muscle or liver biopsies. The number of cytosine adenine guanine (CAG repeats ranged from 50 to 97, and the length of CAG repeat was inversely correlated with the age of onset (r=-0.867, P=0.025. Conclusion: The clinical manifestations and SCA7 gene of SCA7 patients were homogeneous in this study. Larger CAG repeats had not only resulted in earlier onset, but also related to the rapid progression and severity of the disease. Abnormal mitochondria may be a common finding in biopsy studies of various organs in SCA7 patients.

  1. Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family study.

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    Shufang Xu

    Full Text Available BACKGROUND: Genetic variants make some contributions to inflammatory bowel disease (IBD, including Crohn's disease (CD and ulcerative colitis (UC. More than 100 susceptibility loci were identified in Western IBD studies, but susceptibility gene has not been found in Chinese IBD patients till now. Sequencing of individuals with an IBD family history is a powerful approach toward our understanding of the genetics and pathogenesis of IBD. The aim of this study, which focuses on a Han Chinese CD family, is to identify high-risk variants and potentially novel loci using whole exome sequencing technique. METHODS: Exome sequence data from 4 individuals belonging to a same family were analyzed using bioinformatics methods to narrow down the variants associated with CD. The potential risk genes were further analyzed by genotyping and Sanger sequencing in family members, additional 401 healthy controls (HC, 278 sporadic CD patients, 123 UC cases, a pair of monozygotic CD twins and another Chinese CD family. RESULTS: From the CD family in which the father and daughter were affected, we identified a novel single nucleotide variant (SNV c.374T>C (p.I125T in exon 4 of discs large homolog 1 (DLG1, a gene has been reported to play multiple roles in cell proliferation, T cell polarity and T cell receptor signaling. After genotyping among case and controls, a PLINK analysis showed the variant was of significance (PA (p.R278Q in exon 9 of DLG1. CONCLUSIONS: We have discovered novel genetic variants in the coding regions of DLG1 gene, the results support that DLG1 is a novel potential susceptibility gene for CD in Chinese patients.

  2. Herpesvirus saimiri-mediated delivery of the adenomatous polyposis coli tumour suppressor gene reduces proliferation of colorectal cancer cells.

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    Macnab, Stuart A; Turrell, Susan J; Carr, Ian M; Markham, Alex F; Coletta, P Louise; Whitehouse, Adrian

    2011-11-01

    Colorectal cancer (CRC) is a major cause of cancer-related mortality. A contributing factor to the progression of this disease is sporadic or hereditary mutation of the adenomatous polyposis coli (APC) gene, a negative regulator of the Wnt signalling pathway. Inherited mutations in APC cause the disorder familial adenomatous polyposis (FAP), which leads to CRC development in early adulthood. However, the gene is also disrupted in some 60% of sporadic cancers. Restoration of functional APC may slow the growth of CRC by negatively regulating proliferation-associated genes such as c-myc. Therefore, we have cloned the cDNA of the APC tumour suppressor gene into a replication competent Herpesvirus saimiri (HVS)-based vector to assess APC gene delivery in SW480 and SW620 CRC cell lines. Our results demonstrate that full length APC protein was efficiently expressed from the HVS vector and that transgene expression inhibited proliferation of both the SW480 and the metastatic SW620 cancer cell lines. Moreover, a sustained effect could be observed for at least 8 weeks after initial infection in SW480 cells. In addition, monolayer wounding assays showed a marked reduction in proliferation and migration in HVS-GFP-APC infected cells. We believe that this is the first instance of infectious delivery and APC cDNA expression from a virus-based vector.

  3. ITIH family genes confer risk to schizophrenia and major depressive disorder in the Han Chinese population.

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    He, Kuanjun; Wang, Qingzhong; Chen, Jianhua; Li, Tao; Li, Zhiqiang; Li, Wenjin; Wen, Zujia; Qiang, Yu; Wang, Meng; Shen, Jiawei; Song, Zhijian; Ji, Jue; Feng, Guoyin; Qi, Shuguang; Lin, He; Shi, Yongyong; Cheng, Zaohuo

    2014-06-03

    As a major extracellular matrix component, ITIHs played an important role in inflammation and carcinogenesis. Several genome-wide association studies have reported that some positive signals which were derived from the tight linkage disequilibrium region on chromosome 3p21 were associated with both schizophrenia and bipolar disorders in the Caucasian population. To further investigate whether this genomic region is also a susceptibility locus of schizophrenia and major depressive disorder in the Han Chinese population, we conducted this study by recruiting 1235 schizophrenia patients, 1045 major depressive disorder patients and 1235 healthy control subjects in the Han Chinese samples for a case-control study. We genotyped seven SNPs within this region using TaqMan® technology. We found that rs2710322 was significantly associated with schizophrenia (adjusted P(allele) = 0.0018, adjusted P(genotype) = 0.006, OR [95% CI] = 1.278 [1.117-1.462]) while rs1042779 was weakly associated with schizophrenia (adjusted P(allele) = 0.048, OR [95% CI] = 1.164 [1.040-1.303]) and major depressive disorder (adjusted P(allele) = 0.042, OR [95% CI] = 1.178 [1.047-1.326]); it was also our finding that rs3821831 was positively associated with major depressive disorder (adjusted P(allele) = 0.003, adjusted P(genotype) = 0.006, OR [95% CI] = 1.426 [1.156-1.760]). Furthermore, no haplotype was found to be associated with schizophrenia and major depressive disorder. Via the association analysis which combines the schizophrenia and major depressive disorder cases, we also notice that rs1042779 and rs3821831 were significantly associated with combined cases (rs1042779: adjusted P(allele) = 0.012, adjusted P(genotype) = 0.018, OR [95% CI] = 1.171 [1.060-1.292]; rs3821831:adjusted P(genotype) = 0.012, OR [95% CI] = 1.193 [1.010-1.410]). Our results revealed that the shared genetic risk factors of both schizophrenia and major depressive disorder exist in ITIH family genes in the Han Chinese

  4. The impact of family intactness on family functioning, parental control and parent-child relational qualities in a Chinese context

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    Daniel Tan Lei Shek

    2015-01-01

    Full Text Available The current study investigated the differences between intact and non-intact families in family processes, including systematic family functioning, parental behavioral control, parental psychological control, and parent-child relational qualities. The participants were 3,328 Secondary One students, with a mean age of 12.59 years, recruited from 28 secondary schools in Hong Kong. Four validated scales were used to assess family processes. Results showed that adolescents in non-intact families perceived relatively poorer family functioning, lower level of paternal and maternal behavioral control, lower level of paternal psychological control and poorer parent-child relational qualities than did adolescents in intact families. This generally indicated that family processes were poorer in non-intact families, compared with those in intact families. The theoretical and practical implications of the findings were discussed.

  5. A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome

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    Li Qian; Zhang Yongpeng; Jia Liyun; Peng Xiaoyan

    2014-01-01

    Background Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disease,and information about BBS in Chinese populations is very limited.The purpose of the present study was to determine the genetic cause of BBS in a Chinese Han family.Methods Clinical data were recorded for the 4-year-old female proband and the available family members.The proband was screened for mutation by Sanger sequencing for a total of 142 exons of the 12 BBS-causing genes (BBS1-BBS12).The variants detected in the proband were further confirmed in the other family members.Results We identified a novel homozygous nonsense mutation (c.70A>T,p.K24X) in the BBS4 gene exon 2 in the proband.Such mutant allele was predicted to cause a premature truncation in the N-terminal of the BBS4 protein,and probably induced the nonsense-mediated decay of BBS4 messenger RNAs.The proband's parents and brother were heterozygous for the nonsense mutant allele.It was absent in 50 Chinese control subjects.An additional rare heterozygous missense single nucleotide polymorphism (SNP) named rs200718870 in BBS10 gene was also detected in the proband,her father and her brother.Some manifestations of the proband including atypical retinitis pigmentosa,choroidal sclerosis,high myopia,and early onset of obesity might be associated with this mutation in BBS4 gene.The proband's father also reported surgical removal of an extra finger during childhood.Conclusions The present study described a novel nonsense mutation in BBS4 gene in a Chinese family.This homozygous mutation was predicted to completely abolish the synthesis of the BBS4 protein.We also detected a rare heterozygous missense SNP in BBS10 gene in the family,but did not find sufficient evidence to support the triallelic inheritance.

  6. A rare co-segregation-mutation in the insulin receptor substrate 1 gene in one Chinese family with ankylosing spondylitis.

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    Ju Rong

    Full Text Available Ankylosing spondylitis (AS; MIM 106300 is a common rheumatic disease with strong genetic components affecting approximately 0.3% of the population. The exact genetic mechanism of AS remains elusive. Our previous study showed that AS could be transmitted in an autosomal dominant inheritance mode and a 6-cM candidate region located on the chromosome 2q36.1-36.3 was mapped in a Chinese family. Mutation screening was conducted within the candidate region in the family and other AS by sequencing, and the novel mutation will be further validated in other AS families, sporadic cases and healthy controls by mass spectrometry. We identified a rare non-synonymous mutation (Arg580Gly in insulin receptor substrate 1 (IRS1 co-segregated with disease phenotype in patients of the family, which was not found in other AS families, sporadic patients and healthy controls. In the study, we found a rare non-synonymous mutation in IRS1 co-segregation in one Chinese family with AS, which indicated a new candidate disease causative gene for AS.

  7. Atypical presentation of pseudomembranous colitis localized in adenomatous polyps.

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    Hernández-Rocha, Cristian; Barra-Carrasco, Jonathan; Guzmán, Ana María; Paredes-Sabja, Daniel; Lezcano, Gabriel; Zoroquiaín, Pablo; Alvarez-Lobos, Manuel

    2013-01-14

    The most frequent cause of pseudomembranous colitis is Clostridium difficile (C. difficile) infection. This type of colitis is characterized by an endoscopic pattern of numerous small, yellowish or whitish plaques diffusely distributed, which typically compromises the rectum extending to proximal colon. Occasionally, the pseudomembranes compromise only the transverse or right colon, but their exclusive localization over polyps has not been reported. In this case report we have described a patient with symptoms compatible with C. difficile infection and positive for C. difficile toxigenic culture. Colonoscopy examination showed two small polyps with a whitish surface, and histopathological analysis confirmed them to be pseudomembranes over tubular adenomas. The rest of the colonic mucosa was normal and no other cause was demonstrated. We suggest that this particular distribution might be due to a higher affinity for dysplastic cells such as adenomatous polyps of colon by C. difficile and/or its toxins.

  8. Validation of a Chinese version of the Medical Outcomes Study Family and Marital Functioning Measures in patients with SLE.

    Science.gov (United States)

    Thumboo, J; Feng, P H; Soh, C H; Boey, M L; Thio, S; Fong, K Y

    2000-01-01

    The objective was to validate a Chinese translation of the Medical Outcomes Study Family and Marital Functioning Measures (FFM and MFM) in patients with systemic lupus erythematosus (SLE). Chinese-speaking SLE patients (n = 69) completed a self-administered questionnaire containing the FFM and MFM and assessing demographic and socio-economic status twice within a 2 week period. SLE activity, disease-related damage and quality of life were assessed using the BILAG, SLICC/ACR Damage Index and SF-36 Health Survey, respectively. Scale psychometric properties were assessed through factor analysis, Cronbach's alpha, quantifying test-retest differences and known-groups construct validity. Factor analysis identified 1 factor corresponding to the FFM and 2 factors corresponding to the MFM. Internal consistency for the FFM was excellent (alpha = 0.92) while that for the MFM was acceptable (alpha = 0.62). Mean (s.d.) test-retest differences were 0.06 (1.54) points for the FFM and 0.03 (2.08) points for the MFM. 11 and 10 of 13 a priori hypotheses relating the FFM and MFM, respectively, to demographic, disease and quality of life variables were confirmed, supporting the construct validity of these scales. The Chinese FFM and MFM are valid and reliable measures of family and marital functioning in Chinese-speaking SLE patients, with psychometric properties very similar to the source English version.

  9. [Mitochondrial genome analysis in the probands of six Chinese families with MELAS].

    Science.gov (United States)

    Liu, Li; Yuquan, Shao; Baorong, Zhang; Pingping, Jiang; Ailian, Du; Minxin, Guan

    2014-11-01

    Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a genetically heterogeneous disorder. The most prevalent mitochondrial DNA (mtDNA) mutation associated with MELAS is the m.3243A>G transition in the mitochondrial tRNA(Leu(UUR)) gene. Here, we report the clinical, genetic and molecular characterization of six probands from Han Chinese families with MELAS. Four of six probands carried the heteroplasmic m.3243A>G mutation. The levels of mutation load ranged from 29% to 59%, which were correlated with the severity of the clinical phenotypes. Two probands with MELAS/Leigh overlap were 3243 A>G negative, whose severity and relapse were greater than the other 4 probands. One proband with MELAS/Leigh harbored the known ND5 m.13094T>C mutation, which is related to MELAS/Leigh overlap and cerebella ataxia. Sequence analysis of entire mtDNA showed the distinct sets of variants including some variants that may be associated with diabetes, hearing loss, seizures, cardiomyopathy, and Leigh syndrome. Our data suggested that the phenotype and severity of MELAS mainly depend on the mutation load, and some variants may partially contribute to the phenotype and diversity. Our finding also highlighted the complexity of the relationship between genotype and phenotype in MELAS.

  10. Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.

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    Xiwei Hao

    Full Text Available BACKGROUND: Mutations in PKHD1 cause autosomal recessive Caroli disease, which is a rare congenital disorder involving cystic dilatation of the intrahepatic bile ducts. However, the mutational spectrum of PKHD1 and the phenotype-genotype correlations have not yet been fully established. METHODS: Whole exome sequencing (WES was performed on one twin sample with Caroli disease from a Chinese family from Shandong province. Routine Sanger sequencing was used to validate the WES and to carry out segregation studies. We also described the PKHD1 mutation associated with the genotype-phenotype of this twin. RESULTS: A combination of WES and Sanger sequencing revealed the genetic defect to be a novel compound heterozygous genotype in PKHD1, including the missense mutation c.2507 T>C, predicted to cause a valine to alanine substitution at codon 836 (c.2507T>C, p.Val836Ala, and the nonsense mutation c.2341C>T, which is predicted to result in an arginine to stop codon at codon 781 (c.2341C>T, p.Arg781*. This compound heterozygous genotype co-segregates with the Caroli disease-affected pedigree members, but is absent in 200 normal chromosomes. CONCLUSIONS: Our findings indicate exome sequencing can be useful in the diagnosis of Caroli disease patients and associate a compound heterozygous genotype in PKHD1 with Caroli disease, which further increases our understanding of the mutation spectrum of PKHD1 in association with Caroli disease.

  11. Association of ALOX15 gene polymorphisms with obesity-related phenotypes in Chinese nuclear families with male offspring

    Institute of Scientific and Technical Information of China (English)

    Yao-hua KE; Chun WANG; Yun-qiu HU; Miao LI; Yu-juan LIU; Wen-zhen FU; Zhen-lin ZHANG; Wen-jin XIAO; Jin-wei HE; Hao ZHANG; Jin-bo YU; Wei-wei HU; Jie-mei GU; Gao GAO; Hua YUE

    2012-01-01

    Aim:Genetic variation in ALOX12,which encoded human 12-lipoxygenase,was found to be associated with fat mass in young Chinese men.The objective of this study was to investigate the relationship between single nucleotide polymorphisms (SNPs) and haplotypes in the ALOX15 gene and obesity-related phenotypes in Chinese nuclear families with male offspring.Methods:We recruited 1,296 subjects from 427 nuclear families with male offspring and genotyped five SNPs (rs9894225,rs748694,rs2619112,rs2619118,and rs916055) in the ALOX15 gene locus.The total fat mass (TFM),trunk fat mass (tFM),leg fat mass (LFM) and arm fat mass (AFM) were measured using dual-energy X-ray absorptiometry (DXA).The percentage of fat mass (PFM) was the ratio of TFM and body weight.The association between SNPs and haplotypes of ALOX15 and obesity-related phenotypic variation was measured using quantitative transmission disequilibrium test (QTDT).Results:Using QTDT to measure family-based genetic association,we found that rs916055 had a statistically significant association with PFM (P=0.038),whereas rs916055 had a marginal but statistically insignificant association with tFM (P=0.093).The multipleparameter 1000 permutations test agreed with the family-based association results:both showed that rs916055 had a statistically significant association with PFM (P=0.033).Conclusion:rs916055 in ALOX15 gene was significantly associated with the percentage of fat mass in Chinese nuclear families with male offspring in the family-based association study using QTDT approach.

  12. Solitary Atypical Adenomatous Hyperplasia in a 12-Year-Old Girl.

    Science.gov (United States)

    Jin, Moran; Lee, Yang-Haeng; Kim, Bomi; Yoon, Young Chul; Wi, Jin Hong

    2016-04-01

    Atypical adenomatous hyperplasia is a premalignant lesion reflecting a focal proliferation of atypical cells. These lesions are usually observed as incidental findings in lungs that have been resected due to other conditions, such as lung cancer. We report the youngest case of atypical adenomatous hyperplasia on record in a 12-year-old girl. In this patient, the lesion was found in association with pneumothorax.

  13. Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12.

    OpenAIRE

    Lin, S. H.; Sourial, N A; Lu, K. C.; Hsueh, E J

    1994-01-01

    Two brothers in a Chinese family with selective malabsorption of vitamin B12 associated with proteinuria (Imerslund-Grasbeck syndrome) presented with widespread mottled skin pigmentation, termed poikiloderma. In contrast to anaemia, this pigmentary disturbance remained unresponsive to vitamin B12 replacement. This is different from the reported hyperpigmentation sometimes seen in vitamin B12 deficiency which is reversible following treatment. As far as is known, an irreversible and persistent...

  14. Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

    OpenAIRE

    A-ping Sun; Lu Tang; Qin Liao; Hui Zhang; Ying-shuang Zhang; Jun Zhang(UT Austin)

    2015-01-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of the peripheral myelin protein 22 (PMP22) gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only ...

  15. Factors influencing the attitudes of Chinese cancer patients and their families toward the disclosure of a cancer diagnosis.

    Science.gov (United States)

    Sun, Wenwen; Wang, Zhehai; Fang, Shu; Li, Minmin

    2015-03-01

    The disclosure of a cancer diagnosis to patients has been a core topic in oncology departments. Previous studies have demonstrated that Chinese cancer patients and their families differ in their attitudes toward cancer diagnosis disclosure. However, the influencing factors regarding their different attitudes remain unknown. In the present study, a questionnaire was delivered to 266 cancer patients and 266 matched family members. The results showed that cancer patients were more likely to desire to be informed of their condition than family members (85 vs. 18%, P cancer, 16.5% expected to reduce the severity of their condition, and 4.9% expected to lengthen their lives. Therefore, physicians have a responsibility to appropriately provide knowledge regarding cancer to the patients' families if their educational level is lower and if they have no knowledge of recent treatments, which may improve their acceptability of a cancer diagnosis for patients.

  16. Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts.

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    Dongmei Su

    Full Text Available Congenital cataract is a clinically and genetically heterogeneous group of eye disorders that causes visual impairment and childhood blindness. The purpose of this study was to identify the genetic defect associated with autosomal dominant congenital perinuclear cataract in a Chinese family. A detailed family history and clinical data of the family were recorded, and candidate gene sequencing was performed to screen for mutation-causing disease in our study. Direct sequencing revealed a c.601G>A (p.E201K transversion in exon 2 of GJA8. This mutation co-segregated with all affected individuals in the family and was not found in unaffected family members or 100 unrelated controls. The function and mechanism of novel GJA8 point mutation E201K in Chinese patients were then investigated in this study. We found E201K aberrantly located in cytoplasm and prevented its location in the plasma membrane. Induction of E201K expression led to a decrease in cell growth and viability by MTT (3-(4,5-Dimethylthiazol-2-yl-2,5-diphenyltetrazolium bromide assay. Our study provides important evidence that GJA8 is a disease-causing gene for congenital cataract and that mutation of GJA8 has a potential causative effect.

  17. Family economic hardship and Chinese adolescents' sleep quality: A moderated mediation model involving perceived economic discrimination and coping strategy.

    Science.gov (United States)

    Bao, Zhenzhou; Chen, Chuansheng; Zhang, Wei; Zhu, Jianjun; Jiang, Yanping; Lai, Xuefen

    2016-07-01

    The association between family economic hardship and adolescent adjustment outcomes, including sleep quality, is well-established. Few studies, however, have examined the mediating and moderating mechanisms underlying the relation between family economic hardship and adolescents' sleep quality. The aim of this study was to investigate the effect of family economic hardship on Chinese adolescents' sleep quality, as well as the role of perceived economic discrimination as a mediator and the role of coping strategy as a moderator. Survey data from a cross-sectional sample of 997 Chinese adolescents (45% male, mean age = 15.04 years) were analyzed using path analysis in Mplus 7.0. The results of this study indicated that family economic hardship was significantly associated with adolescents' sleep quality. This association was mediated by adolescents' perceived economic discrimination. In addition, adolescents' coping strategy significantly moderated the path from perceived economic discrimination to sleep quality, with the "shift" coping strategy as a protective factor. The present study contributes to our understanding of key mechanisms underlying the association between family economic hardship and adolescent sleep quality and highlights the importance of improving sleep quality for adolescents exposed to economic hardship.

  18. Exploring occupation roles of hospice family caregivers from Māori, Chinese and Tongan ethnic backgrounds living in New Zealand.

    Science.gov (United States)

    Angelo, Jennifer; Wilson, Linda

    2014-06-01

    A major challenge to occupational therapists working in palliative care is determining the best ways to help family caregivers who are caring for family members. The purpose of this study was to explore palliative caregiver occupations among Māori, Chinese and Tongan ethnicities. Six informants participated, one woman and one man from each ethnic group. In each of their homes, informants were asked to discuss what it was like caring for their dying family member. The occupational themes resulting from these interviews were food preparation, spirituality and family gathering. Therapists need to be aware of the differences in how people care for family members within their ethnicity. Implications are that occupational therapists can help families identify activities important to them within the main occupational themes: different types of foods and their preparations, various ways to express spirituality and how families gather together members of their extended family. Further, clinicians need to take on the role of a "not-knowing" but curious health-care provider in order to meet the needs of caregivers. The limitation was the small number of participants who all lived in one geographic area. Future studies should include a wider group of ethnicities.

  19. Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis

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    Varesco, L.; Gismondi, V.; James, R.; Casarino, L.; De Benedetti, L.; Bafico, A.; Allegretti, A.; Aste, H. (Istituto Nazionale per la Ricerca sul Cancro, Genoa (Italy)); Robertson, M.; Groden, J.; White, R. (Univ. of Utah, Salt Lake City (United States)); Grammatico, P.; De Sanctis, S.; Sciarra, A.; Del Porto, G. (Universita di Roma, Rome (Italy)); Bertario, L.; Sala, P.; Rossetti, C.; Illeni, M.T. (Istituto Nazionale Tumori, Milan (Italy)); Sassatelli, R.; Ponz de Leon, M. (Universita di Modena (Italy)); Biasco, G. (Universita di Bologna (Italy)); Ferrara, G.B. (Istituto Nazionale per la Ricerca sul Cancro, Genoa (Italy) Universita di Napoli, Naples (Italy))

    1993-02-01

    The APC gene is a putative human tumor-suppressor gene responsible for adenomatous polyposis coli (APC), an inherited, autosomal dominant predisposition to colon cancer. It is also implicated in the development of sporadic colorectal tumors. The characterization of APC gene mutations in APC patients is clinically important because DNA-based tests can be applied for presymptomatic diagnosis once a specific mutation has been identified in a family. Moreover, the identification of the spectrum of APC gene mutations in patients is of great interest in the study of the biological properties of the APC gene product. The authors analyzed the entire coding region of the APC gene by the PCR-single-strand conformation polymorphism method in 42 unrelated Italian APC patients. Mutations were found in 12 cases. These consist of small (5-14 bp) base-pair deletions leading to frameshifts; all are localized within exon 15. Two of these deletions, a 5-bp deletion at position 3183-3187 and a 5-bp deletion at position 3926-3930, are present in 3/42 and 7/42 cases of the series, respectively, indicating the presence of mutational hot spots at these two sites. 17 refs., 2 figs., 1 tab.

  20. A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.

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    Yu Su

    Full Text Available TECTA-related deafness can be inherited as autosomal-dominant nonsyndromic deafness (designated DFNA or as the autosomal-recessive version. The α-tectorin protein, which is encoded by the TECTA gene, is one of the major components of the tectorial membrane in the inner ear. Using targeted DNA capture and massively parallel sequencing (MPS, we screened 42 genes known to be responsible for human deafness in a Chinese family (Family 3187 in which common deafness mutations had been ruled out as the cause, and identified a novel mutation, c.257-262CCTTTC>GCT (p. Ser86Cys; p. Pro88del in exon 3 of the TECTA gene in the proband and his extended family. All affected individuals in this family had moderate down-sloping hearing loss across all frequencies. To our knowledge, this is the second TECTA mutation identified in Chinese population. This study demonstrates that targeted genomic capture, MPS, and barcode technology might broaden the availability of genetic testing for individuals with undiagnosed DFNA.

  1. Systematics of the family Plectopylidae in Vietnam with additional information on Chinese taxa (Gastropoda, Pulmonata, Stylommatophora

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    Barna Páll-Gergely

    2015-01-01

    Full Text Available Vietnamese species from the family Plectopylidae are revised based on the type specimens of all known taxa, more than 600 historical non-type museum lots, and almost 200 newly-collected samples. Altogether more than 7000 specimens were investigated. The revision has revealed that species diversity of the Vietnamese Plectopylidae was previously overestimated. Overall, thirteen species names (anterides Gude, 1909, bavayi Gude, 1901, congesta Gude, 1898, fallax Gude, 1909, gouldingi Gude, 1909, hirsuta Möllendorff, 1901, jovia Mabille, 1887, moellendorffi Gude, 1901, persimilis Gude, 1901, pilsbryana Gude, 1901, soror Gude, 1908, tenuis Gude, 1901, verecunda Gude, 1909 were synonymised with other species. In addition to these, Gudeodiscus hemmeni sp. n. and G. messageri raheemi ssp. n. are described from north-western Vietnam. Sixteen species and two subspecies are recognized from Vietnam. The reproductive anatomy of eight taxa is described. Based on anatomical information, Halongella gen. n. is erected to include Plectopylis schlumbergeri and P. fruhstorferi. Additionally, the genus Gudeodiscus is subdivided into two subgenera (Gudeodiscus and Veludiscus subgen. n. on the basis of the morphology of the reproductive anatomy and the radula. The Chinese G. phlyarius werneri Páll-Gergely, 2013 is moved to synonymy of G. phlyarius. A spermatophore was found in the organ situated next to the gametolytic sac in one specimen. This suggests that this organ in the Plectopylidae is a diverticulum. Statistically significant evidence is presented for the presence of calcareous hook-like granules inside the penis being associated with the absence of embryos in the uterus in four genera. This suggests that these probably play a role in mating periods before disappearing when embryos develop. Sicradiscus mansuyi is reported from China for the first time.

  2. Psychological Stress and Parenting Behavior among Chinese Families: Findings from a Study on Parent Education for Economically Disadvantaged Families

    Science.gov (United States)

    Lam, Ching Man

    2011-01-01

    With the recognition of the crucial role of family and with the belief that parents have the greatest influence on a child's life, family and parent education has been widely practiced in Hong Kong and many other countries as measure for poverty alleviation. A study, employed quantitative method of a cross-sectional parent survey (N = 10,386) was…

  3. Tiger Parents or Sheep Parents?: Struggles of Parental Involvement in Working-Class Chinese Immigrant Families

    Science.gov (United States)

    Qin, Desirée Baolian; Han, Eun-Jin

    2014-01-01

    Background/Context: Research on Chinese immigrant parents tends to focus on their high levels of educational involvement and its positive impact on their children's exceptional educational performances. Relatively little research has been conducted to understand the challenges Chinese immigrant parents face in helping their children with school…

  4. Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation

    Institute of Scientific and Technical Information of China (English)

    WANG Xue; LIU Xue-wu; Nora Lee; LIU Qi-ji; LI Wen-na; HAN Tao; WEI Kun-kun

    2013-01-01

    Background Familial cerebral cavernous malformations (CCMs),characterized by hemorrhagic stroke,recurrent headache and epilepsy,are congenital vascular anomalies of the central nervous system.Familial CCMs is an autosomal dominant inherited disorder and three CCM genes have been identified.We report a Chinese family with CCMs and intend to explore clinical,pathological,magnetic resonance imaging (MRI) features and pathogenic gene mutation of this family.Methods Totally 25 family members underwent brain MRI examination and clinical check.Two patients with surgical indications had surgical treatment and the specimens were subjected to histopathological and microstructural examination.In addition,polymerase chain reaction (PCR) and direct sequencing were performed with genomic DNA extracted from 25 family members' blood samples for mutation detection.Results Brain MRI identified abnormal results in seven family members.All of them had multiple intracranial lesions and four cases had skin cavernous hemangioma.T2-weighted sequence showed that the lesions were typically characterized by an area of mixed signal intensity.Gradient-echo (GRE) sequence was more sensitive to find microcavernous hemangiomas.There was a wide range in the clinical manifestations as well as the age of onset in the family.The youngest patient was an 8-year-old boy with least intracranial lesions.Histopathological and microstructural examination showed that CCMs were typically discrete multi-sublobes of berry-like lesions,with hemorrhage in various stages of illness evolution.They were formed by abnormally enlarged sinusoids and the thin basement membranes.A novel T deletion mutation in exon 14 of CCM1 gene was identified by mutation detection in the seven patients.But unaffected members and healthy controls did not carry this mutation.Conclusions The clinical manifestations were heterogenic within this family.We identified a novel mutation (c.1396delT) was the disease-causing mutation for this

  5. Occupational Stress, Work-Family Conflict and Depressive Symptoms among Chinese Bank Employees: The Role of Psychological Capital.

    Science.gov (United States)

    Kan, Dan; Yu, Xiaosong

    2016-01-16

    Although depression is a major problem affecting the physical and mental health of the occupational population worldwide, little research is available among bank employees. The purpose of the study was to examine the effects of occupational stress and work-family conflict on depressive symptoms and the mediating role of psychological capital (PsyCap). A cross-sectional study was performed from May to June in 2013 in Liaoning province, China. The effort-reward imbalance (ERB) scale, the work-family conflict scale, the PsyCap questionnaire and the Center for Epidemiologic Studies Depression scale were completed by 1546 employees in state-owned banks. A total of 1239 effective respondents (467 men and 772 women) became our subjects. Hierarchical regression analysis was carried out to explore the effects of extrinsic effort, reward, overcommitment, work-family conflict, and PsyCap on depressive symptoms. The mediating role of PsyCap was examined using Preacher and Hayes' asymptotic and resampling strategies. The mean score of depressive symptoms was 18.4 (SD = 7.6) among the Chinese bank employees. Extrinsic effort, overcommitment and work-family conflict were positively associated with depressive symptoms. Reward and PsyCap were negatively associated with depressive symptoms. The significant mediating roles of PsyCap in the associations of extrinsic effort (a*b = 0.046, BCa 95% CI: 0.029, 0.066) and reward (a*b = -0.047, BCa 95% CI: -0.065, -0.030) with depressive symptoms were revealed. There is a high level of depressive symptoms among Chinese bank employees. PsyCap partially mediates the effects of extrinsic effort and reward on depressive symptoms. Investing in PsyCap may provide new approaches to improve mental health among Chinese bank employees.

  6. Occupational Stress, Work-Family Conflict and Depressive Symptoms among Chinese Bank Employees: The Role of Psychological Capital

    Directory of Open Access Journals (Sweden)

    Dan Kan

    2016-01-01

    Full Text Available Although depression is a major problem affecting the physical and mental health of the occupational population worldwide, little research is available among bank employees. The purpose of the study was to examine the effects of occupational stress and work-family conflict on depressive symptoms and the mediating role of psychological capital (PsyCap. A cross-sectional study was performed from May to June in 2013 in Liaoning province, China. The effort-reward imbalance (ERB scale, the work-family conflict scale, the PsyCap questionnaire and the Center for Epidemiologic Studies Depression scale were completed by 1546 employees in state-owned banks. A total of 1239 effective respondents (467 men and 772 women became our subjects. Hierarchical regression analysis was carried out to explore the effects of extrinsic effort, reward, overcommitment, work-family conflict, and PsyCap on depressive symptoms. The mediating role of PsyCap was examined using Preacher and Hayes’ asymptotic and resampling strategies. The mean score of depressive symptoms was 18.4 (SD = 7.6 among the Chinese bank employees. Extrinsic effort, overcommitment and work-family conflict were positively associated with depressive symptoms. Reward and PsyCap were negatively associated with depressive symptoms. The significant mediating roles of PsyCap in the associations of extrinsic effort (a*b = 0.046, BCa 95% CI: 0.029, 0.066 and reward (a*b = −0.047, BCa 95% CI: −0.065, −0.030 with depressive symptoms were revealed. There is a high level of depressive symptoms among Chinese bank employees. PsyCap partially mediates the effects of extrinsic effort and reward on depressive symptoms. Investing in PsyCap may provide new approaches to improve mental health among Chinese bank employees.

  7. Perceived parental control processes, parent-child relational qualities and psychological well-being of Chinese adolescents in intact and non-intact families in Hong Kong.

    Science.gov (United States)

    Shek, Daniel T L; Lee, Tak Yan

    2007-01-01

    This paper examines whether Chinese adolescents' perceptions (N = 3,017) of parental behavioral control (parental knowledge, expectation, monitoring, discipline, and demandingness as well as parental control based on indigenous Chinese concepts), parental psychological control, parent-child relational qualities (perceived parental trust, child's trust of the parents, child's readiness to communicate with the parents, and child's satisfaction with parental control), and adolescent psychological well-being (hopelessness, mastery, life satisfaction and self-esteem) differed in intact and non-intact families. Results showed that relative to non-intact families, parental behavioral control processes were higher and parent-child relational qualities were better in intact families. In contrast, parental psychological control was higher in non-intact families than in intact families. Finally, the psychological well-being of adolescents in non-intact families was poorer than that of adolescents in intact families.

  8. Functional Pathways of Social Support for Mental Health in Work and Family Domains Among Chinese Scientific and Technological Professionals.

    Science.gov (United States)

    Gan, Yiqun; Gan, Tingting; Chen, Zhiyan; Miao, Miao; Zhang, Kan

    2015-10-01

    This study investigated the role of social support in the complex pattern of associations among stressors, work-family interferences and depression in the domains of work and family. A questionnaire was administered to a nationwide sample of 11,419 Chinese science and technology professionals. Several structural equation models were specified to determine whether social support functioned as a predictor or a mediator. Using Mplus 5.0, we compared the moderation model, the independence model, the antecedent model and the mediation model. The results revealed that the relationship between work-family interference and social support was domain specific. The independence model fit the data best in the work domain. Both the moderation model and the antecedent model fit the family domain data equally well. The current study was conducted to answer the need for comprehensive investigations of cultural uniqueness in the antecedents of work-family interference. The domain specificity, i.e. the multiple channels of the functions of support in the family domain and not in the work domain, ensures that this study is unique and culturally specific.

  9. Chinese American immigrant parents' emotional expression in the family: Relations with parents' cultural orientations and children's emotion-related regulation.

    Science.gov (United States)

    Chen, Stephen H; Zhou, Qing; Main, Alexandra; Lee, Erica H

    2015-10-01

    The present study examined 2 measures of Chinese American immigrant parents' emotional expression in the family context: self-reported emotional expressivity and observed emotional expression during a parent-child interaction task. Path analyses were conducted to examine the concurrent associations between measures of emotional expression and (a) parents' American and Chinese cultural orientations in language proficiency, media use, and social affiliation domains, and (b) parents' and teachers' ratings of children's emotion-related regulation. Results suggested that cultural orientations were primarily associated with parents' self-reported expressivity (rather than observed emotional expression), such that higher American orientations were generally associated with higher expressivity. Although parents' self-reported expressivity was only related to their own reports of children's regulation, parents' observed emotional expression was related to both parents' and teachers' reports of children's regulation. These results suggest that self-reported expressivity and observed emotional expression reflect different constructs and have differential relations to parents' cultural orientations and children's regulation.

  10. Mutation p.R156H of KRT10 responsible for severe phenotype of epidermolytic ichthyosis in a Chinese family

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    Li Z

    2014-09-01

    Full Text Available Zhiliang Li,1,* Qiao Liu,2,* Aimin Wang,2 Hongsheng Wang,1 Chengrang Li1 1Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, People's Republic of China; 2Hainan Provincial Hospital of Skin Disease, Hainan, People's Republic of China  *These authors contributed equally to this workEpidermolytic ichthyosis is a rare genetic disorder characterized by diffuse erythroderma from the time of birth with subsequent appearance of thick, brown scales and occasional blister formation. Mutation has been found in keratin 1 (K1 and keratin 10 (K10 genes.1 Epidermolytic hyperkeratosis (EHK is mostly inherited in a dominant mode. We report a Chinese family of EHK sufferers and their mutation findings. 

  11. Chinese adolescents' reasoning about democratic and authority-based decision making in peer, family, and school contexts.

    Science.gov (United States)

    Helwig, Charles C; Arnold, Mary Louise; Tan, Dingliang; Boyd, Dwight

    2003-01-01

    This study explored the judgments and reasoning of Chinese adolescents (13-18 years of age) from 3 regions of mainland China (N = 574) regarding procedures for making decisions involving children in peer, family, and school contexts. Participants evaluated 2 democratic decision-making procedures (majority rule and consensus) and decision making by adult authorities for 2 decisions embedded in each social context. Judgments and reasoning about decision-making procedures varied by social context and by the decision under consideration, and evaluations of procedures became more differentiated with increasing age. The findings reveal that concepts of rights, individual autonomy, and democratic norms (majority rule) are salient aspects of Chinese adolescents' social reasoning and are used to evaluate critically existing social practices.

  12. Longitudinal Linkages among Parent-Child Acculturation Discrepancy, Parenting, Parent-Child Sense of Alienation, and Adolescent Adjustment in Chinese Immigrant Families

    Science.gov (United States)

    Kim, Su Yeong; Chen, Qi; Wang, Yijie; Shen, Yishan; Orozco-Lapray, Diana

    2013-01-01

    Parent-child acculturation discrepancy is a risk factor in the development of children in immigrant families. Using a longitudinal sample of Chinese immigrant families, the authors of the current study examined how unsupportive parenting and parent-child sense of alienation sequentially mediate the relationship between parent-child acculturation…

  13. Analysis of mtDNA sequence variants in colorectal adenomatous polyps

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    Grizzle William

    2010-10-01

    Full Text Available Abstract Colorectal tumors mostly arise from sporadic adenomatous polyps. Polyps are defined as a mass of cells that protrudes into the lumen of the colon. Adenomatous polyps are benign neoplasms that, by definition display some characteristics of dysplasia. It has been shown that polyps were benign tumors which may undergo malignant transformation. Adenomatous polyps have been classified into three histologic types; tubular, tubulovillous, and villous with increasing malignant potential. The ability to differentially diagnose these colorectal adenomatous polyps is important for therapeutic intervention. To date, little efforts have been directed to identifying genetic changes involved in adenomatous polyps. This study was designed to examine the relevance of mitochondrial genome alterations in the three adenomatous polyps. Using high resolution restriction endonucleases and PCR-based sequencing, fifty-seven primary fresh frozen tissues of adenomatous polyps (37 tumors and 20 matched surrounding normal tissues obtained from the southern regional Cooperative Human Tissue Network (CHTN and Grady Memorial Hospital at Atlanta were screened with three mtDNA regional primer pairs that spanned 5.9 kbp. Results from our data analyses revealed the presence of forty-four variants in some of these mitochondrial genes that the primers spanned; COX I, II, III, ATP 6, 8, CYT b, ND 5, 6 and tRNAs. Based on the MITODAT database as a sequence reference, 25 of the 44 (57% variants observed were unreported. Notably, a heteroplasmic variant C8515G/T in the MT-ATP 8 gene and a germline variant 8327delA in the tRNAlys was observed in all the tissue samples of the three adenomatous polyps in comparison to the referenced database sequence. A germline variant G9055A in the MT-ATP 6 gene had a frequency of 100% (17/17 in tubular and 57% (13/23 in villous adenomas; no corresponding variant was in tubulovillous adenomas. Furthermore, A9006G variant at MT-ATP 6 gene was

  14. Atividade inflamatória em mucosa de reservatório ileal na polipose adenomatosa familiar e retocolite ulcerativa inespecífica: avaliação da expressão de TNF-alfa e IL-1beta, e da ativação NF- kapaB Inflammatory activity in pelvic ileal pouches for familial adenomatous polyposis and ulcerative colitis: expression of TNF-alpha, IL-1beta and the activation of NF- kappaB

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    Raquel Franco Leal

    2006-12-01

    Full Text Available A ileíte do reservatório pós retocolectomia total constitui uma das complicações mais comuns nos doentes com RCUI, apresentando pequena freqüência nos doentes com PAF. OBJETIVO: Avaliar a atividade inflamatória em mucosa de reservatórios ileais endoscopicamente normais, através da expressão de TNF-alfa, NF-kapaB e IL-1beta. CASUÍSTICA E MÉTODOS: Selecionaram-se 20 doentes submetidos à retocolectomia total com reservatório ileal em "J" pelo Grupo de Coloproctologia da UNICAMP, sendo 10 doentes com RCUI e 10 com PAF. O grupo controle foi constituído por íleo terminal de intestino normal. Realizadas biópsias da mucosa do reservatório ileal e do íleo terminal normal, e congeladas em nitrogênio líquido. A expressão de TNF-alfa e IL-1beta foi analisada por extrato total e de NF-kB por meio de imunoprecipitado. A separação protéica foi feita por eletroforese em gel de poliacrilamida. RESULTADOS: Expressão de TNF-alfa e IL-1beta apresentaram níveis maiores nos doentes com RCUI, quando comparados àqueles com PAF (p0.1 e IL-1beta (p > 0.05 sem diferença estatística em relação aos demais grupos. CONCLUSÃO: Os doentes com RCUI apresentaram maiores níveis de expressão das citocinas estudadas, mesmo sem evidência clínica e endoscópica de ileíte do reservatório, podendo justificar maior suscetibilidade dos doentes com RCUI a esta complicação.Pouchitis after total retocolectomy is one of the most common complication of patients with ulcerative colitis (UC, while its frequency is quite rare in familial adenomatous polyposis (FAP. PURPOSE: To evaluate the inflammatory activity in endoscopicaly normal mucosa of the ileal pouch, by determining the expression of TNF-alpha and IL-1beta, and the activation of NF-kappaB. METHODS AND PATIENTS: Twenty patients with "J" pouch after total retocolectomy were studied, being 10 patients with UC and 10 with FAP. The control group was constituted by biopsies from terminal ileum take

  15. A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family

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    Wu, Meng-Han; Yu, Yin-Hui; Hao, Qin-Long; Gong, Xiao-Hua; Yao, Ke

    2017-01-01

    AIM To identify the disease-causing mutation responsible for the presence of congenital cataract in a Chinese family. METHODS The study recruited a four-generation Chinese pedigree affected by autosomal dominant congenital cataract (ADCC). Family history and the history of cataract extraction were recorded. Blood samples were collected from individuals for DNA extraction. Direct sequencing of congenital cataract-associated genes was performed. Single-strand conformational polymorphism and bioinformatic analysis were conducted to further study the mutation. RESULTS Direct sequencing revealed a novel splice site mutation of c.30-2 A>G in the CRYBA3/A1 gene. The mutation co-segregated within all affected individuals in the family and was not found in unaffected members or 100 unrelated normal controls. These results were further confirmed by single-strand conformational polymorphism and bioinformatic analysis using the Human Splicing Finder and MaxEnt online software and Annovar computer software. CONCLUSION c.30-2 A>G mutation of CRYBA3/A1 gene is a novel mutation and broadens the genetic spectrum of ADCC.

  16. [The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families].

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    Ji, Yan-Chun; Liu, Xiao-Ling; Zhao, Fu-Xin; Zhang, Juan-Juan; Zhang, Yu; Zhou, Xiang-Tian; Qu, Jia; Guan, Min-Xin

    2011-04-01

    Leber's hereditary optic neuropathy (LHON) associated with mitochondrial DNA mutation is a maternally inherited eye disease. We reported here the clinical, genetic and molecular characterization of two Han Chinese families with Leber's hereditary optic neuropathy. Ophthalmologic examinations revealed that the variable severity and age-of-onset in visual impairment among probands and other matrilineal relatives of these families. Strikingly, there were extremely low penetrances of visual impairment in these families. Sequence analysis of complete mitochondrial genomes in these pedigrees identified the homoplasmic ND4 G11696A and ND5 T12338C mutation and distinct sets of polymorphism belonging to haplogroups F2. It is well known that mitochondrial DNA ND4 G11696A is associated with LHON. The ND5 T12338C mutation resulted in replacement of the first amino acid, translation-initiating methionine with a threonine, and shortening two amino acids of ND5. This mutation also locates in two nucleotides adjacent to the 3' end of the tRNALeu(Cun). Thus, this mutation may alter structural formation and stabilization of functional tRNA, thereby leading to a failure in protein synthesis and mitochondrial dysfunction involved in visual impairment. Therefore, the ND4 G11696A and ND5 T12338C mutation is likely associated with LHON in these two Chinese families. But these families exhibited extremely low penetrances of visual impairment. It suggests that other factors, such as nuclear modifier gene(s) or environmental factor(s), may play a role in the phenotypic expression of the LHON-associated ND4 G11696A and ND5 T12338C mutation.

  17. Association between SNP and haplotypes in PPARGCl and adiponectin genes and bone mineral density in Chinese nuclear families

    Institute of Scientific and Technical Information of China (English)

    Zhen-lin ZHANG; Jin-wei HE; Yue-juan QIN; Yun-qiu HU; Miao LI; Yu-juan LIU; Hao ZHANG; Wei-wei HU

    2007-01-01

    Aim: To assess the contribution of single nucleotide polymorphisms (SNP) and haplotypes in the peroxisome proliferator-activated receptor-γ co-activator-1(PPARGC1) and adiponectin genes to normal bone mineral density (BMD) variation in healthy Chinese women and men. Methods: We performed population-based (ANOVA) and family-based (quantitative trait locus transmission disequi-librium test) association studies of PPARGC1 and adiponectin genes. SNP in the 2 genes were genotyped. BMD was measured using dual-energy X-ray absorptiometry in the lumbar spine and hip in 401 nuclear families with a total of1260 subjects, including 458 premenopausal women, 20-40 years of age; 401 post-menopausal women (mothers), 43-74 years of age; and 401 men (fathers), 49-76years of age. Results: Significant within-family association was found between the Thr394Thr polymorphism in the PPGAGC1 gene and peak BMD in the femoral neck (P=0.026). Subsequent permutations were in agreement with this significant within-family association result (P=0.016), but Thr394Thr SNP only accounted for0.7% of the variation in femoral neck peak BMD. However, no significant within-family association was detected between each SNP in the adiponect in gene and peak BMD. Although no significant association was found between BMD and SNP in the PPARGC1 and adiponectin genes in both men and postmenopausal women, haplotype 2 (T-T) in the adiponect in gene was associated with lumbar spine BMD in postmenopausal women (P=0.019). Conclusion: Our findings sug-gest that Thr394Thr SNP in the PPARGC1 gene was associated with peak BMD in the femoral neck in Chinese women. Confirmation of our results is needed in other populations and with more functional markers within and flanking the PPARGC1 or adiponectin genes region.

  18. Functional comparison of human adenomatous polyposis coli (APC and APC-like in targeting beta-catenin for degradation.

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    Jean Schneikert

    Full Text Available Truncating mutations affect the adenomatous polyposis coli (APC gene in most cases of colon cancer, resulting in the stabilization of β-catenin and uncontrolled cell proliferation. We show here that colon cancer cell lines express also the paralog APC-like (APCL or APC2. RNA interference revealed that it controls the level and/or the activity of β-catenin, but it is less efficient and binds less well to β-catenin than APC, thereby providing one explanation as to why the gene is not mutated in colon cancer. A further comparison indicates that APCL down-regulates the β-catenin level despite the lack of the 15R region known to be important in APC. To understand this discrepancy, we performed immunoprecipitation experiments that revealed that phosphorylated β-catenin displays a preference for binding to the 15 amino acid repeats (15R rather than the first 20 amino acid repeat of APC. This suggests that the 15R region constitutes a gate connecting the steps of β-catenin phosphorylation and subsequent ubiquitination/degradation. Using RNA interference and domain swapping experiments, we show that APCL benefits from the 15R of truncated APC to target β-catenin for degradation, in a process likely involving heterodimerization of the two partners. Our data suggest that the functional complementation of APCL by APC constitutes a substantial facet of tumour development, because the truncating mutations of APC in colorectal tumours from familial adenomatous polyposis (FAP patients are almost always selected for the retention of at least one 15R.

  19. Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family.

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    Li, M; Yang, L J; Hua, H-K; Zhu, X-H; Dai, X-Y

    2009-01-01

    Epidermolytic plamoplantar keratoderma (EPPK) is an autosomal dominant inherited disease. It caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9. We studied a four-generation family with EPPK combined with knuckle pads from Jiangsu province, China. In this study, a heterozygous nucleotide T-->C transition at position 500 in exon 1 of KRT9 was detected, which resulted in a leucine to serine (L167S) change. We describe this mutation in a Chinese pedigree with EPPK with knuckle pads for the first time, demonstrating the prevalence of this mutation in diverse population.

  20. Metachronous multifocal desmoid-type fibromatoses along the neuraxis with adenomatous polyposis syndrome.

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    Chung, K H Carlos; Charlton, Amanda; Arbuckle, Susan; Chaseling, Raymond; Owler, Brian K

    2010-10-01

    Desmoid-type fibromatosis, aggressive fibromatosis, or desmoid tumor is an uncommon benign but locally aggressive fibroblastic lesion. Although intraabdominal desmoid-type fibromatoses are well described in association with adenomatous polyposis syndrome, their occurrence along the neuraxis is extremely rare. The authors report the case of a 14-year-old boy with metachronous intracranial and spinal desmoid-type fibromatoses with preceding medulloblastoma. He was ultimately diagnosed with adenomatous polyposis syndrome. This is the first reported case of spinal desmoid-type fibromatosis in association with adenomatous polyposis syndrome. The identification of an underlying genetic instability allows for screening to detect lesions and institute measures to avoid preventable mortality from nonneurological tumors.

  1. Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

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    A-ping Sun

    2015-01-01

    Full Text Available Charcot-Marie-Tooth disease type 1A (CMT1A is caused by duplication of the peripheral myelin protein 22 (PMP22 gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases.

  2. Personal and Family Correlates of Suicidal Ideation among Chinese Adolescents in Hong Kong

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    Lai Kwok, Sylvia Y. C.; Shek, Daniel T. L.

    2010-01-01

    Based on the family ecological model, personal (hopelessness, social problem solving, emotional competence) and family (parent-adolescent communication, family functioning) quality of life measures related to adolescent suicidal ideation were examined in 5,557 Secondary 1 to Secondary 4 students in Hong Kong. Results showed that suicidal ideation…

  3. Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.

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    Tong, Yi; Sun, Yan-Hong; Zhou, Xiangtian; Zhao, Fuxin; Mao, Yijian; Wei, Qi-ping; Yang, Li; Qu, Jia; Guan, Min-Xin

    2010-04-01

    We report here the clinical, genetic, and molecular characterization of five Han Chinese families with Leber's hereditary optic neuropathy (LHON). Strikingly, there were very low penetrances of visual impairment in these Chinese families, ranging from 4.2% to 22.2%, with an average of 10.2%. In particular, only 7 (4 males/3 females) of 106 matrilineal relatives in these families exhibited the variable severity and age-at-onset in visual dysfunction. The age-at-onset for visual impairment in matrilineal relatives in these families, varied from 20 to 25 years, with an average of 21.8 years old. Molecular analysis of mitochondrial genomes identified the homoplasmic ND1 G3460A mutation and distinct sets of variants, belonging to the Asian haplogroups B5b, C4a1, D5, F1, and R9, respectively. This suggests that the G3640A mutation occurred sporadically and multiplied through evolution of the mtDNA in China. However, there was the absence of known secondary LHON-associated mtDNA mutations in these Chinese families. Very low penetrance of visual loss in these five Chinese pedigrees strongly indicated that the G3640A mutation was itself insufficient to develop the optic neuropathy. The absence of secondary LHON mtDNA mutations suggest that these mtDNA haplogroup-specific variants may not play an important role in the phenotypic expression of the G3640A mutation in those Chinese families with low penetrance of vision loss. However, nuclear modifier genes, epigenetic and environmental factors appear to be modifier factors for the phenotypic manifestation of the G3640A mutation in these Chinese families.

  4. The Intergenerational Transmission of the Value of Children in Contemporary Chinese Families: Taiwan and Mainland China Compared

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    Chin-Chun Yi

    2014-10-01

    Full Text Available Dieser Beitrag liegt nur in englischer Sprache vor.While fertility has been drastically declining in East Asia, mechanisms accounting for the current trend vary. One noticeable mechanism documented is that the changing value of children affects couples’ fertility decisions which in turn affect their subsequent fertility behaviour. This study will examine the intergenerational transmission of the value of children (VOC among grandmothers, mothers and teenagers in two Chinese societies: Taiwan and Mainland China. We assume that cultural homogeneity interacts with political and social heterogeneity and may result in different values regarding having or not having children. Data are taken from two corresponding VOC surveys from Taiwan (2005-2007 and from Mainland China (2002-2003. We first compare the value of children for Taiwan and Mainland China with special attention to cultural aspects. Two identified factor solutions are generated for both positive (traditional and emotional and negative (emotional/psychological and familial/social VOC. Analyses show that intergenerational transmission of the VOC among three generations is more likely to occur for a positive VOC in the Chinese Mainland sample. We suspect that actual fertility experience results in greater resemblance on the VOC between grandmothers and mothers in both research settings. Among selected structural mechanisms, only rural-urban background has an effect on patterns of intergenerational transmission. The paper ends with a discussion on the importance of culture in explaining the intergenerational transmission of the VOC in Chinese societies.

  5. Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome

    Institute of Scientific and Technical Information of China (English)

    Jia-Wei Liu; Nuo Si; Lian-Qing Wang; Ti Shen; Xue-Jun Zeng; Xue Zhang; Dong-Lai Ma

    2015-01-01

    Background:H syndrome (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin,as well as other systemic manifestations.Most of the cases occurred in the Middle East areas or nearby countries such as Spain or India.The syndrome is caused by mutations in solute carrier family 29,member 3 (SLC29A3),the gene encoding equilibrative nucleoside transporter 3.The aim of this study was to identify pathogenic SLC29A 3 mutations in a Chinese patient clinically diagnosed with H syndrome.Methods:Peripheral blood samples were collected from the patient and his parents.Genomic DNA was isolated by the standard method.All six SLC29A3 exons and their flanking intronic sequences were polymerase chain reaction (PCR)-amplified and the PCR products were subjected to direct sequencing.Results:The patient,an 18-year-old man born to a nonconsanguineous Chinese couple,had more extensive cutaneous lesions,involving both buttocks and knee.In his genomic DNA,we identified a novel homozygous insertion-deletion,c.1269_1270delinsA,in SLC29A3.Both of his parents were carriers of the mutation.Conclusions:We have identified a pathogenic mutation in a Chinese patient with H syndrome.

  6. Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series

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    Ye Jing

    2008-10-01

    Full Text Available Abstract Introduction Transmissible spongiform encephalopathies are a group of neurodegenerative diseases of humans and animals. Genetic Creutzfeldt-Jakob diseases, in which mutations in the PRNP gene predispose to disease by causing the expression of abnormal PrP protein, include familial Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. Case presentation A 47-year-old Han-Chinese woman was hospitalized with a 2-year history of progressive dementia, tiredness, lethargy and mild difficulty in falling asleep. On neurological examination, there was severe apathy, spontaneous myoclonus of the lower limbs, generalized hyperreflexia and bilateral Babinski signs. A missense mutation (T to G was identified at the position of nt 341 in one PRNP allele, leading to a change from glycine (Gly to valine (Val at codon 114. PK-resistant PrPSc was detected in brain tissues by Western blotting and immunohistochemical assays. Information on pedigree was collected notably by interviews with family members. A further four suspected patients in five consecutive generations of the family have been identified. One of them was hospitalized for progressive memory impairment at the age of 32. On examination, he had impairment of memory, calculation and comprehension, mild ataxia of the limbs, tremor and a left Babinski sign. He is still alive. Conclusion This family with G114V inherited prion disease is the first to be described in China and represents the second family worldwide in which this mutation has been identified. Three other suspected cases have been retrospectively identified in this family, and a further case with suggestive clinical manifestations has been shown by gene sequencing to have the causal mutation.

  7. Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti’s crystalline corneoretinal dystrophy

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    Meng, Xiao Hong; Guo, Hong; Xu, Hai Wei; Li, Qi You; Jin, Xin; Bai, Yun; Li, Shi Ying

    2014-01-01

    Purpose To characterize the spectrum of CYP4V2 gene mutations in 92 unrelated Chinese probands with Bietti’s crystalline dystrophy (BCD) and to describe the molecular and clinical characteristics of four novel CYP4V2 mutations associated with BCD. Methods All study participants underwent a complete ophthalmological examination. Mutational screening of CYP4V2 coding regions and flanking intron sequences was examined via directional Sanger sequencing, with allele separation confirmed by screening other family members. Subsequent in silico analysis of the mutational consequence on protein function was undertaken, with the impact of the novel mutation on pre-mRNA splicing examined via RT–PCR. Results Fifteen disease-causing variants were identified in 92 probands with BCD, including four novel mutations and eleven previously reported mutations. The most prevalent mutation was c.802_810del17insGC, which was detected in 69 unrelated families, with an allele frequency of 52.7% (97/184). Homozygosity was revealed in 35 unrelated families, and compound heterozygosity was observed in 43 subjects. Four patients harbored four novel variants, with these mutations cosegregated within all affected individuals and were not found in unaffected family members and 100 unrelated controls. Transcriptional analysis of a novel splice mutation revealed altered RNA splicing. In silico analysis predicted that the missense variant, p.Tyr343Asp, disrupted the CYP4V2 surface electrostatic potential distribution and spatial conformation. Among the patients with four novel mutations, genotype did not always correlate with age at onset, disease course, or electroretinogram (ERG) changes, with phenotypic variations even noted within the same genotype. Conclusions The c.802_810del17insCG mutation was the most common mutation in the 92 Chinese probands with BCD examined. Four novel mutations were identified, contributing to the spectrum of CYP4V2 mutations associated with BCD, with no clear link

  8. Family-environmental factors associated with attention deficit hyperactivity disorder in Chinese children: a case-control study.

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    Xianming du Prel Carroll

    Full Text Available BACKGROUND: Attention deficit hyperactivity disorder (ADHD is one of the most common psychiatric disorders, affecting an estimated 5 to 12% of school-aged children worldwide. From 15 to 19 million Chinese children suffer from ADHD. The aim of this study was to investigate the association between family-environmental factors and ADHD in a sample of Chinese children. METHODS: A pair-matched, case-control study was conducted with 161 ADHD children and 161 non-ADHD children of matching age and sex, all from 5-18 years of age. The ADHD subjects and the normal controls were all evaluated via structured diagnostic interviews. We examined the association between family-environmental factors and ADHD using the conditional multiple logistic regression with backward stepwise selection to predict the associated factors of ADHD. RESULTS: Having experienced emotional abuse and being a single child were both significant factors associated with children diagnosed with ADHD. ADHD subjects were more likely to have suffered from emotional abuse (OR = 11.09, 95% CI = 2.15-57.29, P = 0.004 and have been a single child in the family (OR = 6.32, 95% CI = 2.09-19.14, P = 0.001 when compared to normal controls. The results were not modified by other confounding factors. CONCLUSION: Our findings provide evidence that family-environmental factors are associated with ADHD among children in China. These findings, if confirmed by future research, may help to decrease ADHD by increasing the awareness of the effects of childhood emotional abuse.

  9. The susceptibility gene screening in a Chinese high-altitude pulmonary edema family by whole-exome sequencing.

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    Yingzhong, Yang; Yaping, Wang; Jin, Xu; Rili, Ge

    2017-02-20

    High-altitude pulmonary edema (HAPE) is one of idiopathic mountain sicknesses that occur in healthy lowlanders when they quickly ascend to altitudes exceeding 2500 m above sea levels within 1-7 days. Growing evidence suggests that genetics plays an important role in the risk of HAPE. In this study, we recruited a Chinese HAPE family and screened genetic variations in the 7 family members (including 6 family members with a medical history of HAPE and the propositus's mother) by whole-exome sequencing. The results showed 18 genetic variations (9 SNVs and 9 Indels) were related to HAPE. Two SNV sites (CFHR4 (p.L85F) and OXER1 (p.R176C)) were predicted to be damaging and alter protein functions by SIFT, PolyPhen-2 and PROVEAN software. The biological function of OXER1 was highly related to the hypoxia-inducible factor pathway. Therefore, those two sites were identified as candidate pathological variations. Moreover, other SNVs (NMB p.S150P, APOB p.I4194T, EIF4ENIF1 p.Q763P) and Indels (KCNJ12 p.EE333-334E, ANKRD31 p.LMN251-253LN, OR2A14 p.HFFC175-178HFC) were also predicted to be damaging as well, which also might be considered as potential candidate pathological variations related to HAPE. Collectively we firstly screened the susceptibility genes in a Chinese HAPE family by whole-exome sequencing, which will provide new clues for further mechanistic studies of HAPE.

  10. Non-adenomatous forms of gastro-oesophageal epithelial dysplasia: an under-recognised entity?

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    Serra, Stefano; Chetty, Runjan

    2014-10-01

    Foveolar dysplasia is an uncommon form of dysplasia that is encountered in the stomach and oesophagus in the context of Barrett’s oesophagus. Glands displaying foveolar dysplasia also show architectural abnormalities that are similar to those encountered in adenomatous dysplasia. However, from a cytological point of view, foveolar dysplasia glands are lined by low-cuboidal to columnar epithelium, the cytoplasm is often clear with round-to-oval nuclei. Nuclear stratification as seen in adenomatous dysplasia is not common, although there is loss of nuclear polarity, pleomorphism and mitotic activity. It is important to distinguish low-grade foveolar dysplasia from regenerative change.

  11. Communicating with Chinese American families in the NICU using the Giger and Davidhizar transcultural model.

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    Merritt, Linda

    2013-01-01

    Having an infant admitted to the neonatal intensive care unit (NICU) can be a frightening experience for parents. However, it can be even more frightening for them when they are from a different culture and speak a different language than the health care team. Hence, a nurse needs to be culturally competent in order to provide proper care to a multicultural society. The purpose of this article is to describe how NICU nurses can communicate with one such culture, the Chinese American, the largest Asian group in the United States. A transcultural nursing model will be described to use as a guide to help the nurse. The culture, Chinese Americans, will be described to help nurses provide culturally competent care. Research studies will be presented so the reader can develop an understanding of how parents of Chinese descent perceive the care they receive. Interventions and recommendations will be presented on how to enhance communication between the nurses and this cultural group.

  12. Analysis of low-density lipoprotein receptor gene mutations in a Chinese patient with clinically homozygous familial hypercholesterolemia

    Institute of Scientific and Technical Information of China (English)

    曹守春; 王绿娅; 秦彦文; 蔺洁; 吴邦俊; 刘舒; 潘晓冬; 杜兰平; 陈保生

    2003-01-01

    Objective To screen the point mutation of the low-density lipoprotein receptor (LDL-R) gene in Chinese familial hypercholesterolemia (FH) patients, characterize the relationship between the genotype and the phenotype and discuss the molecular pathological mechanism of FH. Methods A patient with clinical phenotype of homozygous FH and her parents were investigated for mutations in the promoter and all eighteen exons of the LDL-R gene. Screening was carried out using Touch-down PCR and direct DNA sequencing; multiple alignment analysis by DNASIS 2.5 was used to find base alteration, and the LDL-R gene mutation database was searched to identify the alteration. In addition, the apolipoprotein B gene (apo B) was screened for known mutations (R3500Q) that cause familial defective apo B100 (FDB) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Results Two new heterozygous mutations in exons 4 and 9 of the LDL-R gene were identified in the proband (C122Y and T383I) as well as her parents. Both of the mutations have not been published in the LDL-R gene mutation database. No mutation of apo B100 (R3500Q) was observed. Conclusion Two new mutations (C112Y and T383I) were found in the LDL-R gene, which may result in FH and may be particularly pathogenetic genotypes in Chinese people.

  13. Novel A CTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Theγ-actin(ACTG1)gene is a cytoplasmic nonmuscle actin gene,which encodes a major cytoskeletal protein in the sensory hair cells of the cochlea.Mutations in ACTG1 were found to cause autosomal dominant,progressive,sensorineural hearing loss linked to the DFNA 20/26 locus on chromosome 17q25.3 in European and American families,respectively.In this study,a novel missense mutation (c.364A>G;p.I122V)co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls.The alteration of residue I1e122 was predicted to damage its interaction with actin-binding proteins,which may cause disruption of hair cell organization and function.These findings strongly suggested that the I122V mutation in ACTG1 caused autosomal dominant non-syndromic hearing impairment in a Chinese family and expanded the spectrum of ACTG1 mutations causing hearing loss.

  14. Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.

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    Gong, Licheng; Wang, Binbin; Wang, Jing; Yu, Haibo; Ma, Xu; Yang, Jun

    2011-01-01

    Synpolydactyly (SPD) is an autosomal dominant limb malformation caused by mutations in the gene HOXD13. We investigated a Chinese family in which three individuals across three generations were affected with distinctive limb malformations. We extracted genomic DNA from the affected and three unaffected individuals from this family as well as 100 unrelated controls, for mutation detection by DNA sequencing. The family was characterized by camptodactyly and symphalangism of fingers two to five, transverse phalanx and osseous fusion of the third metacarpal with the proximal phalanx, as well as the coexistence of mild and more severe bilateral phenotypes. We identified a duplication mutation, c. 186-212dup, in exon 1 of the HOXD13 gene in the affected individuals from this family; it was not present in the unaffected individuals or the 100 unrelated individuals. And we also did not find polymorphism among the controls. This study has expanded the phenotypic spectrum of known HOXD13 polyalanine repeat mutations and provided more information about the polymorphic nature of the polyalanine repeat. In addition, new clinical manifestations have been added to the spectrum of possible synpolydactyly phenotypes.

  15. Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia

    Science.gov (United States)

    Jin, Lingling; Liu, Yi; Sun, Fanyue; Collins, Michael T.; Blackwell, Keith; Woo, Albert S.; Reichenberger, Ernst J.; Hu, Ying

    2017-01-01

    Gnathodiaphyseal dysplasia (GDD; MIM#166260) is an autosomal dominant syndrome with characteristic cemento-osseous lesions of jawbones, bone fragility, and diaphyseal sclerosis of tubular bones. To date, only five mutations in the proposed calcium-activated chloride channel ANO5/TMEM16E gene have been identified. In this study, we describe two families and two singular patients with three new mutations. One Caucasian family with seven affected members exhibited frequent bone fractures and florid osseous dysplasia (p.Cys356Tyr), while one Chinese family with two affected members suffered from cementoma and purulent osteomyelitis (p.Cys360Tyr). In addition, two different novel mutations (p.Gly518Glu and p.Arg215Gly) were identified in sporadic patients without family history. In vitro studies overexpressing GDD mutations (p.Cys356Tyr and p.Cys360Tyr) showed significantly reduced ANO5 protein. It appears that all GDD mutations known so far locate in an extracellular domain following the first transmembrane domain or in the 4th putative transmembrane domain. Both wild-type and mutant ANO5 protein localize to the endoplasmic reticulum. After Ano5 gene knock-down with shRNA in MC3T3-E1 osteoblast precursors we saw elevated expression of osteoblast-related genes such as Col1a1, osteocalcin, osterix and Runx2 as well as increased mineral nodule formation in differentiating cells. Our data suggest that ANO5 plays a role in osteoblast differentiation. PMID:28176803

  16. Perceived Organizational Support Impacts on the Associations of Work-Family Conflict or Family-Work Conflict with Depressive Symptoms among Chinese Doctors.

    Science.gov (United States)

    Hao, Junhui; Wang, Jiana; Liu, Li; Wu, Wei; Wu, Hui

    2016-03-16

    As a common mental disorder, depressive symptoms had been studied extensively all over the world. However, positive resources for combating depressive symptoms among Chinese doctors were rarely studied. Our study aimed to investigate the relationships between work-family conflict (WFC) and family-work conflict (FWC) with depressive symptoms among Chinese doctors. Meanwhile, the role of perceived organizational support (POS) in this association was explored at an organizational level. The investigation was conducted between March and April 2014. Questionnaires that measured WFC, FWC, depressive symptoms and POS were distributed to 1200 doctors in Shenyang, China. The final study subjects were 931 doctors (effective response rate: 77.6%). In all analyses, male and female doctors were analyzed separately because of possible gender differences. Hierarchical linear regression analyses were used to examine the moderating role of POS. Baron and Kenny's technique and asymptotic and resampling strategies were used to explore the mediating role of POS on the associations of WFC or FWC with depressive symptoms. WFC and FWC had positive relations with depressive symptoms among doctors. POS played a partial mediating role on the correlation of FWC with depressive symptoms among male doctors, and POS played a partial mediating role on the correlation of WFC with depressive symptoms among female doctors. POS had a positive moderating effect on the relationship between WFC and depressive symptoms among doctors. WFC and FWC could aggravate doctors' depressive symptoms, and POS, as an organizational resource, could fight against doctors' depressive symptoms. When POS functioned as a mediator, FWC had a negative effect on POS, which could increase male doctors' depressive symptoms, and WFC had a negative effect on POS, which could increase female doctors' depressive symptoms. In the meantime, POS, as a moderator, could enhance the effects of WFC on depressive symptoms.

  17. Co-Occurrence of Intimate Partner Violence and Child Abuse in Hong Kong Chinese Families

    Science.gov (United States)

    Chan, Ko Ling

    2011-01-01

    This study examines the prevalence of co-occurrence of intimate partner violence (IPV) and child abuse and neglect (CAN) in a cohort of Chinese parents drawn from a large representative sample in Hong Kong. It also investigates the risk factors for CAN with a special emphasis on the role of IPV. A subsample of 2,363 parents was invited to complete…

  18. The Interdependent Family-Centric Career: Career Perspective of the Overseas Chinese in Indonesia

    Science.gov (United States)

    Pekerti, Andre A.

    2008-01-01

    This theoretical article presents an interdisciplinary approach to extend the scope of current career theories and their application to the overseas Chinese (OC) in Indonesia. Using an ecological model to analyze culture and an emic perspective, the article discusses several factors that affect careers of OC Indonesians. Factors such as culture,…

  19. Intergenerational Experiences of Discrimination in Chinese American Families: Influences of Socialization and Stress

    Science.gov (United States)

    Benner, Aprile D.; Kim, Su Yeong

    2009-01-01

    In this longitudinal study, we investigated the mechanisms by which Chinese American parents' experiences of discrimination influenced their adolescents' ethnicity-related stressors (i.e., cultural misfit, discrimination, attitudes toward education). We focused on whether parents' ethnic-racial socialization practices and perpetual foreigner…

  20. Common FLG mutation K4671X not associated with atopic dermatitis in Han Chinese in a family association study.

    Directory of Open Access Journals (Sweden)

    Ruhong Cheng

    Full Text Available BACKGROUND: Filaggrin gene (FLG mutations have been identified as the cause of ichthyosis vulgaris (IV and major predisposing factors for atopic dermatitis (AD. The relationship among AD, IV and FLG mutations has not been clarified yet. Mutations 3321delA and K4671X, two of the most common mutations in Chinese patients, were both statistically associated with AD in case-control studies. MATERIALS AND METHODS: A group of 100 family trios (a total of 300 members with one affected AD proband and both parents were recruited and screened for three filaggrin null mutations (3222del4, 3321delA and K4671X. The subjects' manifestations of AD and IV were assessed by two experienced dermatologists and recorded in detail. The relationship of common mutations to AD were assessed using both case-control and family-based tests of association. Filaggrin expression was measured in skin of 3 subjects with K4671X heterozygote and the normal control using quantitative real-time RT-PCR and immunohistochemistry. RESULTS: Of 100 probands for AD, 22 were carriers for common FLG mutations and only 2 of them were from 40 none-IV family trios (5.00%, consistent with that of the healthy control group (3.99%, P>0.05. Significant statistical associations were revealed between AD and 3321delA (P<0.001, odds ratio 12.28, 95% confidence interval 3.35-44.98 as well as K4671X (P = 0.002, odds ratio 4.53, 95% confidence interval 1.77-11.60. The family-based approach revealed that 3321delA was over-transmitted to AD offspring from parents (T:U = 12∶1, P = 0.003 but failed to demonstrate transmission disequilibrium between K4671X and AD (T:U = 10∶8, P = 0.815. Moreover, compared to the normal control, filaggrin expression at both mRNA and protein levels in epidermis of subjects with K4671X(heter was not reduced. CONCLUSIONS: AD patients from none-IV family trios have low probability of carrying FLG mutations. The present family samples confirmed the

  1. Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

    Institute of Scientific and Technical Information of China (English)

    Qianqian Pang; Xuan Qi; Yan Jiang; Ou Wang; Mei Li; Xiaoping Xing; Jin Dong; Weibo Xia

    2016-01-01

    Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the function of the vitamin D receptor (VDR), which lead to complete or partial target organ resistance to the action of 1,25-dihydroxy vitamin D. A non-consanguineous family of Chinese Han origin with one affected individual demonstrating HVDRR was recruited, with the proband evaluated clinically, biochemically and radiographically. To identify the presence of mutations in the VDR gene, all the exons and exon–intron junctions of the VDR gene from all family members were amplified using PCR and sequenced. The proband showed rickets, progressive alopecia, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. She also suffered from epilepsy, which is rarely seen in patients with HVDRR. Direct sequencing analysis revealed a homozygous missense mutation c.122G4A (p.C41Y) in the VDR gene of the proband, which is located in the first zinc finger of the DNA-binding domain. Both parents had a normal phenotype and were found to be heterozygous for this mutation. We report a Chinese Han family with one individual affected with HVDRR. A homozygous missense mutation c.122G4A (p.C41Y) in the VDR gene was found to be responsible for the patient’s syndrome. In contrast to the results of treatment of HVDRR in other patients, our patient responded well to a supplement of oral calcium and a low dose of calcitriol.

  2. Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets.

    Science.gov (United States)

    Pang, Qianqian; Qi, Xuan; Jiang, Yan; Wang, Ou; Li, Mei; Xing, Xiaoping; Dong, Jin; Xia, Weibo

    2016-01-01

    Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the function of the vitamin D receptor (VDR), which lead to complete or partial target organ resistance to the action of 1,25-dihydroxy vitamin D. A non-consanguineous family of Chinese Han origin with one affected individual demonstrating HVDRR was recruited, with the proband evaluated clinically, biochemically and radiographically. To identify the presence of mutations in the VDR gene, all the exons and exon-intron junctions of the VDR gene from all family members were amplified using PCR and sequenced. The proband showed rickets, progressive alopecia, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. She also suffered from epilepsy, which is rarely seen in patients with HVDRR. Direct sequencing analysis revealed a homozygous missense mutation c.122G>A (p.C41Y) in the VDR gene of the proband, which is located in the first zinc finger of the DNA-binding domain. Both parents had a normal phenotype and were found to be heterozygous for this mutation. We report a Chinese Han family with one individual affected with HVDRR. A homozygous missense mutation c.122G>A (p.C41Y) in the VDR gene was found to be responsible for the patient's syndrome. In contrast to the results of treatment of HVDRR in other patients, our patient responded well to a supplement of oral calcium and a low dose of calcitriol.

  3. Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family.

    Science.gov (United States)

    Qu, Jia; Li, Ronghua; Zhou, Xiangtian; Tong, Yi; Yang, Li; Chen, Jie; Zhao, Fuxing; Lu, Chunjie; Qian, Yaping; Lu, Fan; Guan, Min-Xin

    2007-01-01

    We report here the characterization of a four-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON). This Chinese family exhibited a variable severity and age-at-onset of visual loss. Notably, the average age-at-onset of vision impairment changed from 26 years (generation III) to 14 years (generation IV), with the average of 18 years in this family. In addition, 30% and 50% of matrilineal relatives in generation III and IV of this family developed visual loss with a variability of severity, ranging from blindness to normal vision. Sequence analysis of the complete mitochondrial DNA in this pedigree revealed the presence of the homoplasmic ND4 G11778A mutation and 33 other variants, belonging to the Asian haplogroup D4. Of other variants, the homoplasmic G11696A mutation in the ND4 gene is of special interest as it was implicated to be associated with LHON in a large Dutch family and five Chinese pedigrees with extremely penetrance of visual loss. In fact, the G11696A mutation caused the substitution of an isoleucine for valine at amino acid position 313, located in a predicted transmembrane region of ND4. These imply that the G11696A mutation may act in synergy with the primary LHON-associated G11778A mutation in this Chinese pedigree.

  4. Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)] in a Chinese Family as a Cause of Familial Erythrocytosis.

    Science.gov (United States)

    Ip, Ka Ling Rosalina; So, Jason Chi-Chiu; Law, Man-Fai; Wong, Raymond S M; Tam, Ho Chi; Ng, Margaret H L

    2016-08-01

    Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)], is a rare high oxygen affinity hemoglobin (Hb) variant that causes erythrocytosis, previously described in a few Mexican-American families. Here we report the first Chinese family with this Hb variant presenting with unexplained familial erythrocytosis. No evidence of hemolysis was seen. A locally adapted approach to the diagnostic process in clinical laboratories is discussed. Molecular analysis has an important role in confirmation of the diagnosis. Proper identification of this rare but clinically significant Hb variant is helpful for family counseling and will help to guide appropriate management of absolute erythrocytosis.

  5. Filiform serrated adenomatous polyposis arising in a diverted rectum of an inflammatory bowel disease patient

    DEFF Research Database (Denmark)

    Klarskov, Louise; Mogensen, Anne Mellon; Jespersen, Niels;

    2011-01-01

    Klarskov L, Mogensen AM, Jespersen N, Ingeholm P, Holck S. Filiform serrated adenomatous polyposis arising in a diverted rectum of an inflammatory bowel disease patient. APMIS 2011; 119: 393-8. A 54-year-old man, previously colectomized for inflammatory bowel disease, developed carcinoma...

  6. A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family.

    Science.gov (United States)

    Banerjee, Santasree; Dai, Yi; Liang, Shengran; Chen, Huishuang; Wang, Yanyan; Tang, Lihui; Wu, Jing; Huang, Hui

    2016-09-01

    Neurofibromatosis type 1 (NF1) is a dysregulated neurocutaneous disorder, characterized by neurofibromas and café-au-lait spots. NF1 is caused by mutations in the NF1 gene, encoding neurofibromin. Here, we present a clinical molecular study of a three-generation Chinese family with NF1. The proband was a male patient who showed café-au-lait spots and multiple subcutaneous neurofibromas over the whole body, but his siblings only had regional lesions. The man's daughter presented with severe headache and vomiting. Neurological examination revealed an intracranial space occupying lesion. Surgery was undertaken and the histopathological examination showed a grade I-II astrocytoma. Next-Generation sequencing (Illumina HiSeq2500 Analyzers; Illumina, San Diego, CA, USA) and Sanger sequencing (ABI PRISM 3730 automated sequencer; Applied Biosystems, Foster City, CA, USA) identified the c.227delA mutation in the NF1 gene in the man. The mutation is co-segregated with the disease phenotypes among the affected members of this family and was absent in 100 healthy controls. This novel mutation results in a frameshift (p.Asn78IlefsX7) as well as truncation of neurofibromin by formation of a premature stop codon. Our results not only extended the mutational and phenotypic spectra of the gene and the disease, but also highlight the importance of the other genetic or environmental factors in the development and severity of the disease.

  7. Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families.

    Science.gov (United States)

    Liu, Limin; Li, Nan; Zhao, Zhen; Li, Wei; Xia, Weibo

    2015-03-01

    Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessive skeletal disorder resulting from pathogenic mutations in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene. This disorder predominantly involves the skeletal system, with the leading features of platyspondyly, metaphyseal dysplasia of limbs and extremities, and progressive degeneration of joints. To date, 53 distinct forms of WISP3 mutations have been detected globally, eleven of which originated from Chinese patients. In the current study, we reported the clinical manifestations and radiographic features of two unrelated Chinese SEDT-PA patients. Through genetic analysis, two novel mutations (c.624delA, c.105dupT) as well as one recurrent mutation (c.342T>G) were identified in the WISP3 gene. Our study contributed to the further expansion of the WISP3 mutation spectrum, and demonstrated the genotype-phenotype relationship between mutations in the WISP3 gene and clinical findings of SEDT-PA.

  8. Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta

    Institute of Scientific and Technical Information of China (English)

    Zhenping Xu; Yulei Li; Xiangyang Zhang; Fanming Zeng; Mingxiong Yuan; Mugen Liu; Qing Kenneth Wang; Jing Yu Liu

    2011-01-01

    Osteogenesis imperfecta (OI, also known as brittle bone disease) is caused mostly by mutations in two type Ⅰ collagen genes, COL1A1 and COL1A2 encoding the pro-α1 (Ⅰ) and pro-α2 (Ⅰ) chains of type Ⅰ collagen, respectively. Two Chinese families with autosomal dominant OI were identified and characterized. Linkage analysis revealed linkage of both families to COL1A2 on chromosome 7q21.3-q22.1. Mutational analysis was carried out using direct DNA sequence analysis. Two novel missense mutations, c.3350A>G and c.3305G>C, were identified in exon 49 of COL1A2 in the two families, respectively. The c.3305G>C mutation resulted in substitution of a glycine residue (G) by an alanine residue (A) at codon 1102 (p.G1102A), which was found to be mutated into serine (S), argine (R), aspartic acid (D), or valine (V) in other families. The c.3350A>G variant may be a de novo mutation resulting in p.Y1117C. Both mutations co-segregated with OI in respective families, and were not found in 100 normal controls. The G1102 and Y1117 residues were evolutionarily highly conserved from zebrafish to humans. Mutational analysis did not identify any mutation in the COX-2 gene (a modifier gene of OI). This study identifies two novel mutations p.G1102A and p.Y1117C that cause OI, significantly expands the spectrum of COL1A2 mutations causing OI, and has a significant implication in prenatal diagnosis of OI.

  9. A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.

    Directory of Open Access Journals (Sweden)

    Zixun Song

    Full Text Available To detect the causative mutation for congenital posterior polar cataracts in a five-generation Chinese family and further explore the potential pathogenesis of this disease.Coding exons, with flanking sequences of five candidate genes, were screened using direct DNA sequencing. The identified mutations were confirmed by restriction fragment length polymorphism (RFLP analysis. A full-length wild-type or an Y219* mutant aquaporin0 (AQP0 fused with an N-terminal FLAG tag, was transfected into HEK293T cells. For co-localization studies, FLAG-WT-AQP0 and Myc-Y219*-AQP0 constructs were co-transfected. Quantitative real-time RT-PCR, western blotting and immunofluorescence studies were performed to determine protein expression levels and sub-cellular localization, respectively.We identified a novel nonsense mutation in MIP (c.657 C>G; p.Y219* (major intrinsic protein gene that segregates with congenital posterior polar cataract in a Chinese family. This mutation altered a highly conserved tyrosine to a stop codon (Y219* within AQP0.When FLAG-WT-AQP0 and FLAG-Y219*-AQP0 expression constructs were singly transfected into HEK 293T cells, mRNA expression showed no significant difference between the wild-type and the mutant, while Y219*-AQP0 protein expression was significantly lower than that of wild-type AQP0. Wild-type AQP0 predominantly localized to the plasma membrane, while the mutated protein was abundant within the cytoplasm of HEK293T cells. However, when FLAG-WT-AQP0 andMyc-MU-AQP0were co-expressed, both proteins showed high fluorescence in the cytoplasm.The novel nonsense mutation in the MIP gene (c.657 C>G identified in a Chinese family may cause posterior polar cataracts. The dominant negative effect of the mutated protein on the wild-type protein interfered with the trafficking of wild-type protein to the cell membrane and both the mutant and wild-type protein were trapped in the cytoplasm. Consequently, both wild-type and mutant protein lost

  10. Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.

    Directory of Open Access Journals (Sweden)

    Xue Gao

    Full Text Available Usher syndrome is an autosomal recessive disease characterized by sensorineural hearing loss, age-dependent retinitis pigmentosa (RP, and occasionally vestibular dysfunction. The most severe form is Usher syndrome type 1 (USH1. Mutations in the MYO7A gene are responsible for USH1 and account for 29-55% of USH1 cases. Here, we characterized a Chinese family (no. 7162 with USH1. Combining the targeted capture of 131 known deafness genes, next-generation sequencing, and bioinformatic analysis, we identified two deleterious compound heterozygous mutations in the MYO7A gene: a reported missense mutation c.73G>A (p.G25R and a novel nonsense mutation c.462C>A (p.C154X. The two compound variants are absent in 219 ethnicity-matched controls, co-segregates with the USH clinical phenotypes, including hearing loss, vestibular dysfunction, and age-dependent penetrance of progressive RP, in family 7162. Therefore, we concluded that the USH1 in this family was caused by compound heterozygous mutations in MYO7A.

  11. Protecting Your Family From Earthquakes-The Seven Steps to Earthquake Safety (in English, Chinese, Vietnamese, and Korean)

    Science.gov (United States)

    Developed by American Red Cross, Asian Pacific Fund

    2007-01-01

    This book is provided here because of the importance of preparing for earthquakes before they happen. Experts say it is very likely there will be a damaging San Francisco Bay Area earthquake in the next 30 years and that it will strike without warning. It may be hard to find the supplies and services we need after this earthquake. For example, hospitals may have more patients than they can treat, and grocery stores may be closed for weeks. You will need to provide for your family until help arrives. To keep our loved ones and our community safe, we must prepare now. Some of us come from places where earthquakes are also common. However, the dangers of earthquakes in our homelands may be very different than in the Bay Area. For example, many people in Asian countries die in major earthquakes when buildings collapse or from big sea waves called tsunami. In the Bay Area, the main danger is from objects inside buildings falling on people. Take action now to make sure your family will be safe in an earthquake. The first step is to read this book carefully and follow its advice. By making your home safer, you help make our community safer. Preparing for earthquakes is important, and together we can make sure our families and community are ready. English version p. 3-13 Chinese version p. 14-24 Vietnamese version p. 25-36 Korean version p. 37-48

  12. Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.

    Science.gov (United States)

    Guo, Yi; Yuan, Lamei; Yi, Junhui; Xiao, Jingjing; Xu, Hongbo; Lv, Hongwei; Xiong, Wei; Zheng, Wen; Guan, Liping; Zhang, Jianguo; Xiang, Hong; Qi, Yong; Deng, Hao

    2013-08-01

    Congenital cataract, a clinically and genetically heterogeneous lens disorder is defined as any opacity of the lens presented from birth and is responsible for approximately 10% of worldwide childhood poor vision or blindness. To identify the genetic defect responsible for congenital nuclear cataract in a four-generation Chinese Han family, exome and direct Sanger sequencings were conducted and a missense variant c.139G>A (p.D47N) in the gap junction protein-alpha 3 gene (GJA3) was identified. The variant co-segregated with patients of the family and was not observed in unaffected family members or normal controls. The above findings indicated that the variant was a pathogenic mutation. The mutation p.D47N was found in the first extracellular loop (El) domain of GJA3 protein. Our data suggest that exome sequencing is a powerful tool to discover mutation(s) in cataract, a disorder with high genetic heterogeneity. Our findings may also provide new insights into the cause and diagnosis of congenital nuclear cataract and have implications for genetic counseling.

  13. Family-Concentrated Ownership in Chinese PLCs: Does Ownership Concentration Always Enhance Corporate Value?

    Directory of Open Access Journals (Sweden)

    Jin-Hui Luo

    2014-02-01

    Full Text Available In this paper we investigate the relationship between family ownership structure and corporate value across a sample of 1314 firm-year observations of China’s family publicly listed companies (PLCs, from 2004 to 2008. We find a significant inverse-U-shaped relationship between the controlling family’s ultimate cash-flow rights and corporate value; as measured by Tobin’s Q. That is, as family-ownership concentration increases, corporate value first increases and then decreases. This finding refreshes our understanding of the relationship between family-ownership concentration and corporate value in emerging economies such as found in China. We corroborate prior findings that when controlling families hold excess control over cash-flow rights, corporate value is significantly lowered, while multiple large shareholders structure is significantly associated with higher corporate value. In addition; board independence is found to significantly improve corporate value in the context of family-concentrated ownership. We also test for potential endogeneity between family ownership and corporate value and find our results to be robust.

  14. Prevalence of colorectal adenomatous polyps in patients with chronic obstructive pulmonary disease

    Directory of Open Access Journals (Sweden)

    Chun EM

    2015-05-01

    Full Text Available Eun Mi Chun, Seo Woo Kim, So Yeon Lim Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Republic of Korea Background: Colorectal adenomatous polyps are precancerous lesions of colorectal cancer. The aim of this study was to assess the prevalence of colorectal adenomatous polyps in chronic obstructive pulmonary disease (COPD patients and determine whether COPD is associated with colorectal malignant potential.Methods: Subjects who had undergone post-bronchodilator spirometry and colonoscopy and were 40 years or older were selected from the hospital database. COPD was defined as a spirometry in which the ratio of forced expiratory volume in 1 second (FEV1 and forced vital capacity (FVC is <0.7 in post-bronchodilator spirometry. The non-COPD group was matched for both age and sex, and were defined as having an FEV1, FVC, and FEV1/FVC ≥0.7 in spirometry. Finally, 333 patients were retrospectively reviewed; of this group, 82 patients had COPD.Results: Among the subjects, 201 patients (60% were nonsmokers, while 78 (23% were current smokers. The prevalence of colorectal adenomatous polyps was 39% (98/251 in the non-COPD group and 66% (54/82 in the COPD group. Among 54 patients with adenomatous polyps in the COPD group, 47 had tubular adenoma and seven had villous adenoma. Multiple logistic regression analyses revealed that only COPD patients whom matched to the criteria of COPD by pulmonary function test (odds ratio 2.1, 95% confidence interval: 1.1–3.8; P=0.019 were independently associated with colorectal malignant potential.Conclusion: The risk of colorectal malignant potential in the COPD group was higher than in the non-COPD group. We may suggest that COPD patients should consider regular colonoscopic evaluation to screen for premalignant colon polyps regardless of smoking. Keywords: COPD, colorectal adenomatous polyp, smoking, chronic obstructive pulmonary

  15. Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family

    Directory of Open Access Journals (Sweden)

    Liu Jing

    2008-04-01

    Full Text Available Abstract Background Long QT syndrome (LQTS is a cardiac disorder characterized by prolonged QT intervals on electrocardiograms (ECG, ventricular arrhythmias, and sudden death. Clinically, two inherited forms of LQTS have been defined: autosomal dominant LQTS or Romano-Ward syndrome (RWS not associated with deafness and autosomal recessive LQTS or Jervell and Lange-Nielsen syndrome (JLNS associated with deafness. Methods A Chinese family with both RWS and JLNS was identified. Family members were diagnosed based on the presence of a prolonged QT interval as seen on a 12-lead ECG and a medical history of syncope, palpitation, and deafness. Mutational studies in the KCNQ1 potassium channel gene were performed using direct DNA sequence analysis and restriction length polymorphism analysis. Results The proband in the Chinese family and her brother had previously been diagnosed with JLNS, and two other members were affected with RWS. The proband was also affected with atrial fibrillation. A single nucleotide substitution of C to T at nucleotide 965 of KCNQ1 was identified, and the mutation resulted in the substitution of a threonine residue at codon 322 by a methionine residue (T322M. The novel heterozygous T322M mutation was identified in two patients with RWS, one member with borderline QTc, and two normal family members. The two JLNS patients in the family carried the homozygous T322M mutation. The T322M mutation was not found in 200 Chinese normal controls. Conclusion Our results suggest that T322M is a novel mutation that caused RWS with high intrafamilial variability in the heterozygous carriers and typical JLNS in the homozygous carriers within this Chinese family. The T322M mutation is the first mutation identified for JLNS in the Chinese population.

  16. Parent–Adolescent Discrepancies in Perceived Parenting Characteristics and Adolescent Developmental Outcomes in Poor Chinese Families

    OpenAIRE

    Leung, Janet T. Y.; Daniel T. L. Shek

    2013-01-01

    We examined the relationships between parent–adolescent discrepancies in perceived parenting characteristics (indexed by parental responsiveness, parental demandingness, and parental control) and adolescent developmental outcomes (indexed by achievement motivation and psychological competence) in poor families in Hong Kong. A sample of 275 intact families having at least one child aged 11–16 experiencing economic disadvantage were invited to participate in the study. Fathers and mothers compl...

  17. Chinese Folk"Family"Culture%中国民间“香火”文化初探

    Institute of Scientific and Technical Information of China (English)

    谢国荣

    2015-01-01

    "Incense" customs reflect the ancient Chinese with the fear and worship of the gods of heaven and earth, and folk "incense" stems mainly from China's profound traditional family ethics and clan. A shrine is the core content of "incense". In the old days, in addition to ancestors and the emperors, only teachers could be consecrated by“incense”on a shrine which indicated that the teachers had lofty posi⁃tion in the minds of the Chinese nation.%“香火”习俗反映了中国古人对天地诸神的敬畏和崇拜,而民间“香火”主要源于中国深厚的家庭伦理和宗族传统。神位,是“香火”的核心内容。在旧时代,除了祖先和国君之外,人世间能够上香火让人供奉的人就是老师,可见老师在中华民族心目中的崇高地位。

  18. EXPRESSION OF T CELL RECEPTOR Vα GENE FAMILIES IN INTRATHYROIDAL T CELLS OF CHINESE PATIENTS WITH GRAVES' DISEASE

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Objective. Patients with Graves' disease (GD) have marked lymphocytic infiltration in their thyroid glands. We examined the gene for the variable regions of the α-chain of the Chinese T-cell receptor( Vα gene) in intrathyroidal Tcells to determine the role of T cells in the pathogenesis of GD and offer potential for the development of immunothera-peutic remedies for GD. Methods. We used the reverse transcription and polymerase chain reaction(RT-PCR) to amplify complementary DNA(cDNA) for the 18 known families of the Vα gene in intrathyroidal T cells from 5 patients with Graves' disease.The findings were compared with the results of peripheral blood T cells in the same patients as well as those in normalsubjects. Results. We found that marked restriction in the expression of T cell receptor Vα genes by T cells from the thyroidtissue of Chinese patients with GD(P < 0.001). An average of only 4.6 ± 1.52 of the 18 Vα genes were expressed insuch samples, as compared with 10.4 ± 2.30Vα genes expressed in peripheral blood T cells from the same patients.The pattem of expressed Vα genes differed from patient to patient with no clear predominance. Condusions. Expression of intrathyroidal T cell receptor Vα genes in GD is highly restricted suggesting the prima-cy of T cells in causing the disorders.

  19. A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    CHEING Chor Kwan; LAU Kwok Kwong; YU Kwok Wai; CHAN Yan Wo Albert; MAK Miu Chloe

    2010-01-01

    @@ Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathies, comprises a genetically heterogeneous group of inherited peripheral neuropathies. Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon reflexes. Following electrophysiological criteria, CMT is divided into two main forms: the primarily demyelinating neuropathy CMT1 with severely decreased nerve conduction velocity (NCV) (38 m/s) but decreased amplitudes.1 CMT2A, an autosomal dominant disease caused by mitofusin 2 gene (MFN2) mutations, is the most common type of CMT2, accounting for up to 33% of familial CMT2 cases.2 We reported a patient with clinical diagnosis of CMT2 caused by a novel MFN2 mutation. To our knowledge, this is a relatively early report of genetically confirmed CMT2A in Chinese.

  20. 中国民营企业国际化转型问题研究%Research on the International Transformation of Chinese Family Businesses

    Institute of Scientific and Technical Information of China (English)

    叶笛

    2012-01-01

    With the coming of economic crisis, the Chinese family businesses meet new opportunities and challenges. How the family businesses deal with the crisis and comply with the international trends of restructuring are practical problems that the current government and the family entrepreneurs must face and deal with. Firstly, new challenges of the environment which the Chinese family enterprises face in the economic crisis are examined in this article. In addition, this article expli-cates reasons for the international transformation of family firms in China, as well as questions existing in it. At last, the strategy for the international transformation of Chinese family businesses is proposed.%经济危机给我国民营企业带来了机遇与挑战,民营企业如何应对危机,顺应国际化转型趋势,这是我国政府与民营企业家当前必须面对的现实问题.首先探讨经济危机下我国民营企业面临生存环境的新挑战,其次解析我国民营企业国际化战略转型的动因,及我国民营企业国际化转型中的困惑,最后提出了我国民营企业国际化转型的思路.

  1. Current status of familial gastrointestinal polyposis syndromes

    Institute of Scientific and Technical Information of China (English)

    Ioan; Jung; Simona; Gurzu; Gligore; Sabin; Turdean

    2015-01-01

    Because of the rarity of familial gastrointestinal cancerpredisposing syndromes,their exploration in literature is not extensive.In this review,an update of the clinicopathological and molecular criteria of gastrointestinal familial polyposis syndromes with potential malignant transformation is performed.In addition,a guide for screening and surveillance was synthesized and a distribution of gene mutations according to the specific syndromes and geographic distribution was included.The following inherited polyposes syndromes were analyzed: familial adenomatous polyposis,the hamartomatous familial polyposes(Juvenile polyposis,Peutz-Jeghers syndrome,Cowden syndrome,BannayanRiley-Ruvalcaba syndrome,hereditary mixed polyposis syndrome,Gorlin syndrome,Birt-Hogg-Dube syndrome,neurofibromatosis type Ⅰand multiple endocrine neoplasia syndrome 2B),Li-Fraumeni syndrome,and MUTYHassociated adenomatous polyposis.For proper medical care,subspecialization of gastroenterologists,pathologists,and genticists in the field of familial diseases should be introduced in the medical curriculum.

  2. Differences in lifestyle behaviors, dietary habits, and familial factors among normal-weight, overweight, and obese Chinese children and adolescents

    Directory of Open Access Journals (Sweden)

    Guo Xiaofan

    2012-10-01

    Full Text Available Abstract Background Pediatric obesity has become a global public health problem. Data on the lifestyle behaviors, dietary habits, and familial factors of overweight and obese children and adolescents are limited. The present study aims to compare health-related factors among normal-weight, overweight, and obese Chinese children and adolescents. Methods We conducted a cross-sectional study consisted of 4262 children and adolescents aged 5–18 years old from rural areas of the northeast China. Anthropometric measurements and self-reported information on health-related variables, such as physical activities, sleep duration, dietary habits, family income, and recognition of weight status from the views of both children and parents, were collected by trained personnel. Results The prevalence rates of overweight and obesity were 15.3 and 6.4%, respectively. Compared to girls, boys were more commonly overweight (17.5% vs. 12.9% and obese (9.5% vs. 3.1%. Approximately half of the parents with an overweight or obese child reported that they failed to recognize their child’s excess weight status, and 65% of patients with an overweight child reported that they would not take measures to decrease their child’s body weight. Obese children and adolescents were more likely to be nonsnackers [odds ratio (OR: 1.348; 95% confidence interval (CI: 1.039–1.748] and to have a family income of 2000 CNY or more per month (OR: 1.442; 95% CI: 1.045–1.99 and less likely to sleep longer (≥7.5 h (OR: 0.475; 95% CI: 0.31–0.728 than the normal-weight participants. Conclusions Our study revealed a high prevalence of overweight and obesity in a large Chinese pediatric population. Differences in sleep duration, snacking, family income, and parental recognition of children’s weight status among participants in different weight categories were observed, which should be considered when planning prevention and treatment programs for pediatric obesity.

  3. A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

    DEFF Research Database (Denmark)

    Xiao, Cuiying; Zhang, Sizhong; Wang, Jun

    2003-01-01

    . The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA...

  4. Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.

    Science.gov (United States)

    Ji, Yanchun; Liang, Min; Zhang, Juanjuan; Zhang, Minglian; Zhu, Jinping; Meng, Xiangjuan; Zhang, Sai; Gao, Min; Zhao, Fuxin; Wei, Qi-Ping; Jiang, Pingping; Tong, Yi; Liu, Xiaoling; Qin Mo, Jun; Guan, Min-Xin

    2014-03-01

    To investigate the pathophysiology of Leber's hereditary optic neuropathy (LHON), a cohort of 1164 Han Chinese subjects with LHON were screened for ND1 G3460A mutation. A total of 295 subjects from 16 Han Chinese families carrying the G3460A mutation underwent a clinical and genetic evaluation and molecular analysis of mitochondrial (mt)DNA. The incidence of G3460A mutation was 1.4% in this cohort of Chinese subjects with LHON. Twenty-seven (20 males/7 females) of 109 matrilineal relatives among 10 Chinese pedigrees carrying this mutation exhibited a wide range of severity and age-at-onset in visual impairment. Penetrances of optic neuropathy ranged from 7.1% to 50%, with the average of 24.5%. The age-at-onset of 27 affected matrilineal relatives varied from 10 to 40 years, with the average of 22 years. Molecular analysis identified the homoplasmic G3460A mutation and distinct sets of variants belonging to eight haplogroups. Haplogroup M with G3460A mutation was of higher frequency than those in controls. The penetrances of visual loss in families carrying mitochondrial DNA haplogroups A, B and M were higher than those in other families. Furthermore, haplogroup-specific variants tRNA(Ser(AGY)) A12223G, tRNA(Thr) G15927A and tRNA(Glu) A14693G may enhance the penetrance of visual loss in these families. The G3460A mutation occurred through recurrent origins and founder events in Chinese population. Mitochondrial modifiers may modulate the penetrance and expressivity of optic neuropathy among Chinese pedigrees carrying the G3460A mutation. Thus, our findings may provide new insights into the understanding of pathophysiology and valuable information on the management of LHON.

  5. A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II

    Energy Technology Data Exchange (ETDEWEB)

    Wang Haoyang [Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing 210002 (China); Hou Yanning [Department of Stomatology, Third Affiliated Hospital, Nanjing Traditional Chinese Medicine University, Nanjing 210001 (China); Cui Yingxia [Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing 210002 (China)], E-mail: cuiyx55@yahoo.com.cn; Huang Yufeng [Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing 210002 (China)], E-mail: huangyf@androl.cn; Shi Yichao; Xia Xinyi; Lu Hongyong; Wang Yunhua; Li Xiaojun [Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing 210002 (China)

    2009-03-09

    Twenty-four individuals were investigated that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM 125490). All affected individuals presented with typical, clinical and radiographic features of DGI-II, but without bilateral progressive high-frequency sensorineural hearing loss. To investigate the mutated molecule, a positional candidate approach was used to determine the mutated gene in this family. Genomic DNA was obtained from 24 affected individuals, 18 unaffected relatives of the family and 50 controls. Haplotype analysis was performed using leukocyte DNA for 6 short tandem repeat (STR) markers present in chromosome 4 (D4S1534, GATA62A11, DSPP, DMP1, SPP1 and D4S1563). In the critical region between D4S1534 and DMP1, the dentin sialophosphoprotein (DSPP) gene (OMIM *125485) was considered as the strongest candidate gene. The first four exons and exon/intron boundaries of the gene were analyzed using DNA from 24 affected individuals and 18 unaffected relatives of the same family. DNA sequencing revealed a heterozygous deletion mutation in intron 2 (at positions -3 to -25), which resulted in a frameshift mutation, that changed the acceptor site sequence from CAG to AAG (IVS2-3C{yields}A) and may also have disrupted the branch point consensus sequence in intron 2. The mutation was found in the 24 affected individuals, but not in the 18 unaffected relatives and 50 controls. The deletion was identified by allele-specific sequencing and denaturing high-performance liquid chromatography (DHPLC) analysis. We conclude that the heterozygous deletion mutation contributed to the pathogenesis of DGI-II.

  6. A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.

    Science.gov (United States)

    Wang, HaoYang; Hou, YanNing; Cui, YingXia; Huang, YuFeng; Shi, YiChao; Xia, XinYi; Lu, HongYong; Wang, YunHua; Li, XiaoJun

    2009-03-01

    Twenty-four individuals were investigated that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM #125490). All affected individuals presented with typical, clinical and radiographic features of DGI-II, but without bilateral progressive high-frequency sensorineural hearing loss. To investigate the mutated molecule, a positional candidate approach was used to determine the mutated gene in this family. Genomic DNA was obtained from 24 affected individuals, 18 unaffected relatives of the family and 50 controls. Haplotype analysis was performed using leukocyte DNA for 6 short tandem repeat (STR) markers present in chromosome 4 (D4S1534, GATA62A11, DSPP, DMP1, SPP1 and D4S1563). In the critical region between D4S1534 and DMP1, the dentin sialophosphoprotein (DSPP) gene (OMIM *125485) was considered as the strongest candidate gene. The first four exons and exon/intron boundaries of the gene were analyzed using DNA from 24 affected individuals and 18 unaffected relatives of the same family. DNA sequencing revealed a heterozygous deletion mutation in intron 2 (at positions -3 to -25), which resulted in a frameshift mutation, that changed the acceptor site sequence from CAG to AAG (IVS2-3C-->A) and may also have disrupted the branch point consensus sequence in intron 2. The mutation was found in the 24 affected individuals, but not in the 18 unaffected relatives and 50 controls. The deletion was identified by allele-specific sequencing and denaturing high-performance liquid chromatography (DHPLC) analysis. We conclude that the heterozygous deletion mutation contributed to the pathogenesis of DGI-II.

  7. The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations.

    Science.gov (United States)

    Zou, Yang; Jia, Xiaoyun; Zhang, A-Mei; Wang, Wen-Zhi; Li, Shiqiang; Guo, Xiangming; Kong, Qing-Peng; Zhang, Qingjiong; Yao, Yong-Gang

    2010-08-20

    LHON is one of the most common and primary causes of acute blindness in young male adults. Over 95% of LHON cases are caused by one of the three primary mutations (m.11778G>A, m.14484T>C, and m.3460G>A). In contrast to these genetically diagnosed LHON patients, there are many patients with clinical features of LHON but without the three primary mutations, and these patients have been insufficiently analyzed. We reported 10 suspected Chinese LHON families without the three primary mutations. The overall penetrance (53.4%) in these families is significantly higher than in those families with m.11778G>A (33.3%) or m.3460G>A (25.6%). Complete mtDNA genome sequencing of the 10 families showed that they belonged to different haplogroups and all identified variants (excluding m.12332A>G in mt-tRNA(Leu)) were previously reported. Eight of 12 private non-synonymous variants in the probands are located in the MT-ND1 and MT-ND5 genes, which is substantially higher than that of individuals from general Chinese populations. Comparison of the private variants in the 10 families and in 10 randomly selected mtDNAs from general Chinese populations using resampling simulation strategy further confirmed this pattern. Our results suggest that the MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with suspected LHON lacking the common primary mutations. Variants m.3736G>A (p.V144I) in family Le1235 and m.10680G>A (p.A71T) in Le1107 can be the pathogenic mutations for LHON.

  8. MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer families

    Institute of Scientific and Technical Information of China (English)

    Heng-Hua Zhou; Shi-Yan Yan; Xiao-Yan Zhou; Xiang Du; Tai-Ming Zhang; Xu Cai; Yong-Ming Lu; San-Jun Cai; Da-Ren Shi

    2008-01-01

    AIM:To detect the MLH1 gene promoter germlinemethylation in probands of Chinese hereditary nonpolyposis colorectal cancer (HNPCC),and to evaluate the role of methylation in MLH1 gene promoter and molecular genetics in screening for HNPCC.METHODS:The promoter germline methylation of MLH1 gene was detected by methylation-specific PCR (MSP) in 18 probands from unrelated HNPCC families with high microsatellite-instability (MSI-H) phenotype but without germline mutations in MSH2,MLH1 and MSH6 genes.At the same time,6 kindreds were collected with microsatellite-stability (MSS) phenotype but without germline mutations in MSH2,MLH1 and MSH6 genes as controls.The results of MSP were confirmed by clone sequencing.To ensure the reliability of the results,family H65 with nonsense germline mutation at c.2228C>A in MSH2 gene was used as the negative control and the cell line sw48 was used as the known positive control along with water as the blank control.Immunochemical staining of MLH1 protein was performed with Envision two-step method in those patients with aberrant methylation to judge whether the status of MLH1 gene methylation affects the expression of MLH1 protein.RESULTS:Five probands with MLH1 gene promoter methylation were detected in 18 Chinese HNPCC families with MSI-H phenotype but without germline mutations in MSH2,MLH1 and MSH6 genes.Two of the five probands from families H10 and H29 displayed exhaustive-methylation,fulfilling the Japanese criteria (JC) and the Amsterdam criteria (AC),respectively.The other 3 probands presented part-methylation fulfilling the AC.Of the 13 probands with unmethylation phenotype,8 fulfilled the JC and the Bethesda guidelines (BG),5 fulfilled the AC.The rate of aberrant methylation in MLH1 gene in the AC group (22.2%,4/18) was higher than that in the JC/BG groups (5.6%,1/18) in all HNPCC families with MSI-H phenotype but without germline mutations in MSH2,MLH1 and MSH6 genes.However,no proband with methylation in MLH1 gene was found

  9. Hereditary osteogenesis imperfecta in a Chinese family%遗传性成骨不全家系分析

    Institute of Scientific and Technical Information of China (English)

    2013-01-01

      目的探讨遗传性成骨不全(osteogenesis imperfecta,OI)一家系特征。方法2011年6月对河南安阳OI家系进行问卷调查、专科检查,搜集临床资料,绘制家系图谱,分析临床特点和遗传方式。结果该家系4代40人,患者10例,现存活患者7例,其中男5例,女2例。存活7例均存在骨折病史、骨骼畸形、蓝色巩膜、牙齿发育异常,3例听力受损,3例出现骨折愈合不良。结论该家系临床诊断符合Sillence I型成骨不全,遗传方式为常染色体显性遗传。%Objective To study the features of hereditary osteogenesis imperfecta in a Chinese family tree. Methods Hereditary osteogenesis imperfecta in a family of Anyang City, Henan Province, China, was investigated with questionnaire. The family underwent examination in our department and its clinical data were collected. An atlas was plotted for the family. The clinical features of hereditary osteogenesis imperfecta and its hereditary mode were analyzed. Results There were 40 members including 4 generations in the family. Of the 10 members with hereditary osteogenesis imperfecta, 7 were survivors (5 males and 2 females) with a history of fracture, bone deformity, blue sclera and teeth dysplasia, 3 had hearing impairment and 3 had poor fracture healing. Conclusion The clinical diagnosis of hereditary osteogenesis imperfecta in the family is consistent with Sillence I osteogenesis imperfecta with autosomal dominant inheritance as its hereditary mode.

  10. A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family

    Institute of Scientific and Technical Information of China (English)

    Jia-Ze Tan; Yuan Man; Fei Xiao

    2016-01-01

    Background:Congenital myasthenic syndromes are a group orrare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction.Here,we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome (SCCMS).Methods:Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined,and next-generation sequencing followed by direct sequencing was carried out.Results:The patients revealed variability in clinical and electrophysiological features.However,weakness,scoliosis,and repetitive-compound muscle action potential were found in all affected members in the family.A heterozygous C>T missense mutation at nucleotide 865 in acetylcholine receptor epsilon-subunit (CHRNE) gene that causes a leucine-to-phenylalanine substitution at position 289 (L289F) was found.Conclusions:We reported a SCCMS family of Chinese origin.In the family,classical clinical phenotype with phenotypic variability among different members was found.Genetic testing could help diagnose this rare disease.

  11. Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment

    Science.gov (United States)

    Wang, Guo-Jian; Xu, Jin-Cao; Su, Yu

    2017-01-01

    Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by mutations in the TMPRSS3 gene, which can lead to prelingual (DFNB10) as well as postlingual deafness (DFNB8). TMPRSS3 mutations can be classified as mild or severe, and the phenotype is dependent on the combination of TMPRSS3 mutations. The combination of two severe mutations leads to profound hearing impairment with a prelingual onset, whereas severe mutations in combination with milder TMPRSS3 mutations lead to a milder phenotype with postlingual onset. We characterized a Chinese family (number FH1523) with not only prelingual but also postlingual hearing impairment. Three mutations in TMPRSS3, one novel mutation c.36delC [p.(Phe13Serfs⁎12)], and two previously reported pathogenic mutations, c.916G>A (p.Ala306Thr) and c.316C>T (p.Arg106Cys), were identified. Compound heterozygous mutations of p.(Phe13Serfs⁎12) and p.Ala306Thr manifest as prelingual, profound hearing impairment in the patient (IV: 1), whereas the combination of p.Arg106Cys and p.Ala306Thr manifests as postlingual, milder hearing impairment in the patient (II: 2, II: 3, II: 5), suggesting that p.Arg106Cys mutation has a milder effect than p.(Phe13Serfs⁎12). We concluded that different combinations of TMPRSS3 mutations led to different hearing impairment phenotypes (DFNB8/DFNB10) in this family. PMID:28246597

  12. Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing

    Science.gov (United States)

    Jiang, Bo; chen, Yanhua; Xu, Baisheng; Hong, Nan; Liu, Rongrong; Qi, Ming; Shen, Liping

    2017-01-01

    Congenital cataract is both clinically diverse and genetically heterogeneous. To investigate the underlying genetic defect in three-generations of a Chinese family with autosomal dominant congenital cataracts, we recruited family members who underwent comprehensive ophthalmic examinations. A heterozygous missense mutation c.634G > C (p.G212R) substitution was identified in the MIP gene through target region capture sequencing. The prediction results of PolyPhen-2 and SIFT indicated that this mutation was likely to damage the structure and function of MIP. Confocal microscopy images showed that the intensity of the green fluorescent signal revealed much weaker signal from the mutant compared to the wild-type MIP. The expressed G212R-MIP was diminished and almost exclusively cytoplasmic in the HeLa cells; whereas the WT-MIP was stable dispersed throughout the cytoplasm, and it appeared to be in the membrane structure. Western blot analysis indicated that the protein expression level of the mutant form of MIP was remarkably reduced compared with that of the wild type, however, the mRNA levels of the wild-type and mutant cells were comparable. In conclusion, our study presented genetic and functional evidence for a novel MIP mutation of G212R, which leads to congenital progressive cortical punctate with or without Y suture. PMID:28059152

  13. Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3.

    Directory of Open Access Journals (Sweden)

    Yanping Lu

    Full Text Available Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure. Here we report the development and the first clinical application of the PGD for this MKS3 family. Molecular analysis protocol for clinical PGD procedure was established using 50 single cells in pre-clinical set-up. After whole genomic amplification by multiple displacement amplification with the DNA from single cells, three techniques were applied simultaneously to increase the accuracy and reliability of genetic diagnosis in single blastomere, including real-time PCR with Taq Man-MGB probe, haplotype analysis with polymorphic STR markers and Sanger sequencing. In the clinical PGD cycle, nine embryos at cleavage-stage were biopsied and subjected to genetic diagnosis. Two embryos diagnosed as free of TMEM67 mutation were transferred and one achieving normal pregnancy. Non-invasive prenatal assessment of trisomy 13, 18 and 21 by multiplex DNA sequencing at 18 weeks' gestation excluded the aneuploidy of the analyzed chromosomes. A healthy boy was delivered by cesarean section at 39 weeks' gestation. DNA sequencing from his cord blood confirmed the result of genetic analysis in the PGD cycle. The protocol developed in this study was proved to be rapid and safe for the detection of monogenic mutations in clinical PGD cycle.

  14. Language Socialization and Interculturality: Address Terms in Intergenerational Talk in Chinese Diasporic Families

    Science.gov (United States)

    Hua, Zhu

    2010-01-01

    This paper aims to contribute to the current debate on "interculturality" (IC) by investigating the process of language socialization whereby different generations of diasporic families negotiate, construct, and renew their sociocultural values and identities through interaction. Focusing on the use of address terms and "talk about social,…

  15. Intergenerational Transmission of Educational Attitudes in Chinese American Families: Interplay of Socioeconomic Status and Acculturation

    Science.gov (United States)

    Shen, Yishan; Kim, Su Yeong; Wang, Yijie

    2016-01-01

    This longitudinal study examined the influence of parents' educational attitudes on adolescents' educational attitudes and identified antecedents (i.e., parent education, family income, and parent acculturation), consequences (i.e., academic achievement and engagement), and a potential moderator (i.e., adolescent acculturation) of the transmission…

  16. Doing Well vs. Feeling Well: Understanding Family Dynamics and the Psychological Adjustment of Chinese Immigrant Adolescents

    Science.gov (United States)

    Qin, Desiree Baolian

    2008-01-01

    Despite their average high levels of educational achievement, Asian American students often report poor psychological and social adjustment, suggesting an achievement/adjustment paradox. Yet, the reasons for this paradox remain unclear. Drawing on 5-year longitudinal qualitative interview data, this paper compares the family dynamics of two groups…

  17. Association and linkage analysis of COL1A1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families

    Institute of Scientific and Technical Information of China (English)

    Hui JIANG; Shu-feng LEI; Su-mei XIAO; Yuan CHEN; Xiao SUN; Fang YANG; Li-ming LI; Shun WU; Hong-wen DENC

    2007-01-01

    Aim: To simultaneously investigate the contribution of the alpha 1 chain of col-lagen type 1 (COL1A1) and alpha2-HS-glycoprotein (AHSG) genes to the varia-tion of bone geometric parameters in both Caucasians and Chinese. Methods: Six hundred and five Caucasian individuals from 157 nuclear families and 1228 Chi-nese subjects from 400 nuclear families were genotyped at the AHSG-Sacl, COL1A1-PCOL2 and Sp1 polymorphisms using polymerase chain reaction (PCR)-restric-tion fragment length polymorphism (RFLP). 5 FN bone geometric parameters were calculated based on bone mineral density and bone area of femoral neck (FN)measured by dual energy X-ray absorptiometry. Population stratification, total family association, within-family association, and linkage tests were performed by the quantitative transmission disequilibrium test program. Results: The t-test showed the significant differences of all bone geometric phenotypes (except ED)between Caucasians and Chinese in the offspring using both unadjusted and adjusted (by age, height, weight, and gender) data. In Caucasians, we found significant within-family association results between the COL1A1-Sp1 polymor-phism (rs1800012) and cross sectional area (CSA), cortical thickness (CT),endocortical diameter (ED), buckling ratio (BR) (P=0.018, 0.002, 0.023, and 0.001,respectively); the COL1A1-Sp1 polymorphism also detected significant linkage with BR (P=0.039). In the population of China, the within-family associations between the COL1A1-PCOL2 polymorphism (rs1107946) and CT, BR were signifi-cant (P=0.012 and 0.008, respectively). Furthermore, evidence of linkage were observed between the AHSG-SacI polymorphism (rs4918) and CT, BR (P--0.042 and 0.014, respectively) in Caucasians, but not in Chinese. Conclusion: Our results suggest that the COL1A1 gene may have significantly association with bone geometry in both Caucasians and Chinese, and the AHSG gene may be linked to bone geometry in Caucasians, but not in Chinese. This study

  18. Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families.

    Science.gov (United States)

    Zhang, Juanjuan; Zhao, Fuxin; Fu, Qun; Liang, Min; Tong, Yi; Liu, Xiaoling; Lin, Bei; Mi, Hui; Zhang, Minglian; Wei, Qi-Ping; Xue, Ling; Jiang, Pingping; Zhou, Xiangtian; Mo, Jun Qin; Huang, Taosheng; Qu, Jia; Guan, Min-Xin

    2013-11-01

    Mitochondrial m.14484T>C (MT-ND6) mutation has been associated with Leber's hereditary optic neuropathy. Previous investigations revealed that the m.14484T>C mutation is a primary factor underlying the development of optic neuropathy but is not sufficient to produce a clinical phenotype. However, mitochondrial haplogroups have been proposed to modulate the phenotypic manifestation of the m.14484T>C mutation. Here, we performed the clinical, genetic evaluation and complete mitochondrial genome sequence analysis of 41 Han Chinese pedigrees carrying the m.14484T>C mutation. These families exhibited a wide range of penetrances and expressivities of optic neuropathy. The average ratio between affected male/female matrilineal relatives from 41 families was 2:1. The penetrance of optic neuropathy in these Chinese pedigrees ranged from 5.6% to 100%, with the average of 23.8%. Furthermore, the age-of-onset for optic neuropathy varied from 4 to 44 years, with the average of 19.3 years. Sequence analysis of their mitochondrial genomes identified distinct sets of polymorphisms belonging to ten Eastern Asian haplogroups, indicating that the m.14484T>C mutation occurred through recurrent origins and founder events. We showed that mitochondrial haplogroups M9, M10 and N9 increased the penetrance of optic neuropathy in these Chinese families. In particular, these mitochondrial haplogroup specific variants: m.3394T>C (MT-ND1), m.14502T>C (MT-ND4) and m.14693A>G (MT-TE) enhanced the penetrance of visual loss in these Chinese families. These data provided the direct evidence that mitochondrial modifiers modulate the variable penetrance and expressivity of optic neuropathy among Chinese pedigrees carrying the m.14484T>C mutation.

  19. Recombination analysis of autosomal short tandem repeats in Chinese Han families.

    Science.gov (United States)

    Liu, Qiu-Ling; Luo, Hong; Zhao, Hu; Huang, Xiao-Ling; Cheng, Jian-Ding; Lu, De-Jian

    2014-03-01

    Recombination fractions between forensic STRs can be extrapolated from the International HapMap Project, but the concordance between recombination fractions predicated from genetic maps and derived from observation of STR transmissions in families is still ambiguous for autosomal STRs because of limited family studies. Therefore, the main goal of this study is to compare recombination fractions estimated by pedigree analysis with those derived from HapMap phase SNP data. Genotypes of nine autosomal STR pairs (TPOX-D2S1772, D5S818-CSF1PO, D7S3048-D7S820, D8S1132-D8S1179, TH01-D11S2368, vWA-D12S391, D13S325-D13S317, D18S51-D18S1364, and D21S11-PentaD) from 207 two-generation families with two to five children (the number of families with five, four, three, and two children was 2, 3, 20, and 182, respectively) were used to analyze the recombination. The linkage analysis showed that significant linkage was observed at six STR pairs (D5S818-CSF1PO, D8S1132-D8S1179, TH01-D11S2368, vWA-D12S391, D13S325-D13S317, and D18S51-D18S1364) with genetic distances HapMap. Their recombination fractions calculated from family data were very close to those derived from HapMap. However, three STR pairs of TPOX-D2S1772, D7S3048-D7S820, and D21S11-PentaD showed no significant linkage with genetic distances from 43.38 to 91.49 cM. Our results indicate that recombination fractions extrapolated from HapMap can provide a substitute if empirical data are unavailable for the linkage STR pair with a genetic distance spanned <36.22 cM.

  20. Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family

    Directory of Open Access Journals (Sweden)

    Xiaona Fu

    2015-12-01

    Full Text Available We report an 8-year-old girl with lower limb weakness since birth in whom mitochondrial trifunctional protein (MTP deficiency, an autosomal recessive fatty acid oxidation disorder caused by HADHA or HADHB mutations, had not been definitively diagnosed before she was referred to our hospital. Repeated blood acylcarnitine analysis revealed slightly increased long-chain 3-OH-acylcarnitine levels; electromyography (EMG suggested peripheral nerve injury; muscle biopsy confirmed a neurogenic lesion in muscle fibers, as shown by EMG. Analysis of the HADHB, which encodes long-chain 3-ketoacyl-CoA thiolase, one of the enzymes constituting mitochondrial trifunctional protein, identified homozygous missense mutation c.739C > T (p.R247C. Mitochondrial trifunctional protein deficiency is an extremely rare disorder and has not been reported in Chinese people to date. It is likely that neonatal onset, as seen in our patient, has not been reported for the neuromyopathic phenotype of mitochondrial trifunctional protein deficiency.

  1. [The analysis of Leber's hereditary optic neuropathy associated with mitochondrial tRNAAla C5601T mutation in seven Han Chinese families].

    Science.gov (United States)

    Zhou, Hui-Hui; Dai, Xian-Ning; Lin, Bei; Mi, Hui; Liu, Xiao-Ling; Zhao, Fu-Xin; Zhang, Juan-Juan; Zhou, Xiang-Tian; Sun, Yan-Hong; Wei, Qi-Ping; Qu, Jia; Guan, Min-Xin

    2012-08-01

    We reported here the clinical, genetic, and molecular characterization of Leber's hereditary optic neuropathy (LHON) with C5601T mutation in seven Chinese families. The ophthalmologic examinations of seven Chinese families who were clinically diagnosed LHON were conducted. Strikingly, these families exhibited very low penetrance of visual impairment, and the penetrance was 9.5%, 14.3%, 4.5%, 8.3%, 10.0%, 22.2% and 25.0%. Meanwhile, entire mitochondrial genome of seven probands was amplified by PCR using 24 pairs of oligonucleotide primers with overlapping fragments. Molecular analysis of mitochondrial DNA (mtDNA) in these pedigrees revealed the absence of three common LHON associated G11778A, G3460A and T14484C mutations but the presence of homoplastic LHON associated tRNAAla C5601T mutation in probands and other matrilineal relatives. These mtDNA polymorphism sites belongs to the Asian haplogroups G2, G2a1, G2a1, G2, G2b, G2a1 and G2. By analyzing mitochondrial genome, seven LHON families all carry the C5601T mutation. The C5601T mutation occurs at the highly conserved nucleotide (conventional position 59) of tRNAAla, thereby contributing to the structural formation and stabilization of functional tRNAs and leading to mitochondrial dysfunction involved in visual impairment. The incomplete penetrance of visual loss in these seven Chinese pedigrees strongly indicates that the tRNAAla C5601T mutation was itself insufficient to produce a clinical phenotype. The lack of functional mtDNA variants in these pedigrees ruled out the role of mitochondrial background in the phenotypic expression of visual loss. Therefore, nuclear backgrounds and environmental factors seem to be modifying factors for the phenotypic manifestation of the tRNAAla C5601T mutation in the seven Chinese families.

  2. No association of the polymorphisms of the frizzled-related protein gene with peak bone mineral density in Chinese nuclear families

    Directory of Open Access Journals (Sweden)

    Yue Hua

    2010-01-01

    Full Text Available Abstract Background The Wnt/beta-catenin signaling pathway plays an important role in skeletal development. Polymorphisms of frizzled-related protein (FRZB, an antagonist of this pathway, may generate variations in bone mineral density (BMD. In this study, we analyzed the association between FRZB genotypes and peak BMD variation in the spines and hips of two relatively large samples of Chinese female-offspring and male-offspring nuclear families. Methods We recruited 1,260 subjects from 401 female-offspring nuclear families and 1,296 subjects from 427 male-offspring nuclear families and genotyped four tagging single nucleotide polymorphisms (tagSNPs (rs6433993, rs409238, rs288324, and rs4666865 spanning the entire FRZB gene. The SNPs rs288326 and rs7775, which are associated with hip osteoarthritis, were not selected in this study because of their low minor allele frequencies (MAFs in Chinese people. The quantitative transmission disequilibrium test (QTDT was used to analyze the association between each SNP and haplotype with peak BMD in female- and male-offspring nuclear families. Results In the female-offspring nuclear families, we found no evidence of an association between either single SNPs or haplotypes and peak BMD in the spine or hip. In the male-offspring nuclear families, no within-family association was observed for either SNPs or haplotypes, although a significant total association was found between rs4666865 and spine BMD (P = 0.0299. Conclusion Our results suggest that natural variation in FRZB is not a major contributor to the observed variability in peak BMD in either Chinese females or males. Because ethnic differences in the FRZB genotypes may exist, other studies in different population are required to confirm such results.

  3. Colorectal adenomatous polyposis syndromes: Genetic determinism, clinical presentation and recommendations for care.

    Science.gov (United States)

    Buecher, Bruno

    2016-02-01

    Colorectal adenomatous polyposis constitutes a diverse group of disorders with different modes of inheritance. Molecular diagnosis of this condition has become more complex. In fact, somatic mosaicism for APC mutations now appears to be more frequent than previously thought and rare germline alterations of this gene may be implicated in patients tested negative for "classical" APC mutations (point mutations and large genomic rearrangements). Moreover, the knowledge concerning several aspects of the MUTYH-associated polyposis has improved since its first description in 2002 and germline mutations in new genes have recently been implicated in some cases of unexplained adenomatous polyposis. Genetic testing in probands and their relatives should be conducted in the context of pre- and post-test genetic counseling. The recent advent of New Generation Sequencing (NGS) techniques affords the opportunity to rapidly screen patients for a comprehensive panel of colorectal cancer susceptibility genes in a cost-effective fashion. This type of approach will probably replace the classical sequential approach based on clinical presumptive diagnoses in the near future. The risk of colorectal cancer is very high in affected patients in the absence of appropriate care. Clinical management is complex and should be provided in centers with special expertise in these diseases. This review focuses on the various colorectal adenomatous polyposis syndromes with special attention to more innovative and important aspects.

  4. Succession Planning in Malaysian Family Owned Business– Case Studies in Malaysian Chinese Owned Business

    OpenAIRE

    Jade Li, Chong

    2009-01-01

    Transferring a business to the next generation can pose serious challenges, especially in the SMEs sector. In many cases, the owner of the SMEs is the pillar of the company and he/she is responsible for most of the functions in the business. Some are near irreplaceable, thus, making succession even more difficult. According to research, about two-thirds of all family businesses fail to make it from the first generation to the second, and even less make it to the third. Researchers believe tha...

  5. A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family

    Science.gov (United States)

    Zhang, Liping; Shi, Wei; Song, Liming; Zhang, Xiao; Cheng, Lulu; Wang, Yanfang; Ge, Xianglian; Li, Wei; Zhang, Wei; Min, Qingjie; Jin, Zi-Bing; Qu, Jia; Gu, Feng

    2014-11-01

    Autosomal dominant optic atrophy (ADOA) is the most frequent form of hereditary optic neuropathy and occurs due to the degeneration of the retinal ganglion cells. To identify the genetic defect in a family with putative ADOA, we performed capture next generation sequencing (CNGS) to screen known retinal disease genes. However, six exons failed to be sequenced by CNGS in optic atrophy 1 gene (OPA1). Sequencing of those exons identified a 4 bp deletion mutation (c.2983-1_2985del) in OPA1. Furthermore, we sequenced the transcripts of OPA1 from the patient skin fibroblasts and found there is six-nucleotide deletion (c.2984-c.2989, AGAAAG). Quantitative-PCR and Western blotting showed that OPA1 mRNA and its protein expression have no obvious difference between patient skin fibroblast and control. The analysis of protein structure by molecular modeling suggests that the mutation may change the structure of OPA1 by formation of an alpha helix protruding into an existing pocket. Taken together, we identified an OPA1 mutation in a family with ADOA by filling the missing CNGS data. We also showed that this mutation affects the structural intactness of OPA1. It provides molecular insights for clinical genetic diagnosis and treatment of optic atrophy.

  6. Relationship Between Polymorphism of Cystathionine beta Synthase Gene and Congenital Heart Disease in Chinese Nuclear Families

    Institute of Scientific and Technical Information of China (English)

    XIAO-MING SONG; XIAO-YING ZHENG; WEN-LI ZHU; LEI HUANG; YONG LI

    2006-01-01

    Objective To study the relationship between polymorphism of cystathionine beta synthase (CBS) gene and development of congenital heart disease (CHD). Methods One hundred and twenty-seven CHD case-parent triads were recruited from Liaoning Province as patient group, and 129 healthy subjects without family history of birth defect were simultaneously recruited as control group together with their biological parents. For all subjects the polymorphism of CBS gene G919A locus was examined by PCR-ARMS method. Results The frequencies of three genotypes (w/w, w/m, and m/m) in control group were 27.2%, 58.4%, and 14.4%, respectively, with no significant difference in gender. A significant difference in the allele frequency was found between CHD patients and controls, the wild allele frequency was 67.9% in patients and 55.7% in controls.CHD parents' genotype distribution was significantly different from that in controls. Further comparison of each type of CHD showed that genotype frequencies in several CHD subtypes were significantly different from those in their corresponding controls. The results of TDT analysis showed that no allele transmission disequilibrium existed in CHD nuclear families.Conclusions CBS gene G919A mutation is associated with the development of CHD, and the mutated allele may decrease the risk of CHD.

  7. 中国式管理在家族企业治理中的运用%Application of Chinese style management to family enterprise governance

    Institute of Scientific and Technical Information of China (English)

    孙书琦; 李毅

    2012-01-01

    Family enterprise research is essential to the study in management theory and practice,but there is rare study on how Chinese style management is employed in family enterprise governance.It shows that Chinese-style management has indeed been applied to the family business governance,meanwhile,it has not been a systematic achievement. This study is based on document analysis method on Chinese style management and family enterprise governance. Besides,it also analyses the typical Chinese enterprise The Lee Kum Kee Group by qualitative analysis method. The paper proposes that the family enterprise governance tactics mainly reflect creatively on family culture,values,relationship and retaining talents. What's more, Chinese style management should be applied to innovate in family business governance to guide the practice better.%家族企业治理是管理理论实践研究中不可缺失的重要内容,但是针对中国家族企业治理中如何体现中国式管理的研究很少。中国式管理在家族企业治理中确实有所应用,但尚未形成较为系统的研究成果。通过文献分析总结学者们对中国式管理相关研究的成果及家族企业治理中的相关问题;运用定性分析法对典型的家族企业——李锦记集团进行剖析,创新性地得出家族企业治理中体现的中国式管理思想集中反映在家文化、价值观、人际关系和安人策略上,同时指出中国式管理思想必须独到性地运用于家族企业治理以更好地指导管理实践。

  8. Intergenerational transmission of dietary behaviours: A qualitative study of Anglo-Australian, Chinese-Australian and Italian-Australian three-generation families.

    Science.gov (United States)

    Rhodes, Kate; Chan, Flora; Prichard, Ivanka; Coveney, John; Ward, Paul; Wilson, Carlene

    2016-08-01

    Family food choice is complex with a number of people within the family sharing food choice and preparation responsibilities. Differences in dietary behaviours also exist between various ethnic groups worldwide, and are apparent within multicultural nations such as Australia. This study examined the intergenerational transmission of eating behaviour through semi-structured family interviews with 27 three generation families (Anglo-Australian: n = 11, Chinese-Australian: n = 8, Italian-Australian: n = 8; N = 114). The influence of generation (grandparent, parent, child), role (grandmother, grandfather, mother, father, daughter, son), and ethnic background were considered. Thematic analysis identified that regardless of ethnic background, grandmothers and mothers dominated family food choice decisions even in families where fathers were primarily responsible for the preparation of family meals. The women in each generation influenced fruit and vegetable intake by controlling purchasing decisions (e.g., by shopping for food or editing family grocery shopping lists), insisting on consumption, monitoring and reminding, utilizing food as a prerequisite for conditional treats (e.g., eating fruit before being allowed snacks), instigating and enforcing food rules (e.g., fast food only on weekends), and restricting others' food choices. Grandparents and children shared a relationship that skipped the parent generation and influenced dietary behaviours bi-directionally. These findings have implications for the delivery of dietary health messages used in disease prevention interventions designed to successfully reach culturally and linguistically diverse populations and all members of multigenerational families.

  9. Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly.

    Science.gov (United States)

    Xin, Qian; Li, Lin; Li, Jiangxia; Qiu, Rongfang; Guo, Chenhong; Gong, Yaoqin; Liu, Qiji

    2012-05-10

    Human synpolydactyly (SPD), belonging to syndactyly (SD) II, is an inherited autosomal-dominant limb malformation characterized by SD of finger 3 or 4 or toe 4 or 5, usually with digit duplication. Previous studies have demonstrated that homeobox protein D13 (HOXD13) is responsible for this Mendelian disorder. In this paper, we report on a family with SPD - 7 members show typical SPD malformations. We used PCR and Sanger sequencing of DNA from peripheral blood samples and found an 8-Ala expansion in exon 1 of HOXD13 by mutation detection; this variant was absent in unaffected members and in 50 unaffected non-related subjects. This study further confirmed the correlation between SPD and alanine expansion in HOXD13.

  10. Clinical Features and Genetic Analysis of Tuberous Sclerosis Complex in a Chinese Family Caused by c.2677-2678del Mutation on TSC2 Gene

    Institute of Scientific and Technical Information of China (English)

    KE Lai-shun; JIANG Hua; QU Xiu-xiu; ZHENG De-quan; WU Xin-yu; LU Wu-sheng

    2016-01-01

    The clinical data of patients from a Chinese family with tuberous sclerosis complex (TSC) were collected and the gene mutation type of TSC2 of proband in pedigree one was determined by polymerase chain reaction (PCR) and direct genes sequencing. There were 2 cases with TSC in the family, both of whom had facial angioifbromas, one case with ungual ifbromas, the other with mental retardation. The MRI and CT showed multiple intracranial nodules together. What’s more, gene mutation analysis of TSC2 demonstrated the c.2677-2678del mutation in both and the genetic manner deduced with autosomal dominant inheritance.

  11. Identification of a New Lamin A/C Mutation in a Chinese Family Affected with Atrioventricular Block as the Prominent Phenotype

    Institute of Scientific and Technical Information of China (English)

    吴小艳; 王擎; 桂乐; 刘木根; 张贤钦; 金润铭; 李伟; 闫露; 杜戎; 王秋芬; 祝建芳; 杨钧国

    2010-01-01

    Even though mutations in LMNA have been reported in patients with typical dilated cardio-myopathy(DCM)and atrioventricular block(AVB)previously,the purpose of this study was to disclose this novel genetic abnormality in one Chinese family with the atypical phenotype of progressive AVB followed by DCM with normal QRS interval.Genome-wide linkage analysis mapped the AVB gene in this family to a marker at chromosome 1q21.2,where the LMNA gene was located.Direct DNA sequence analysis revealed a heterozygous G t...

  12. 暹罗王室在垄断贸易中重用华侨的原因%The Reasons of Oversea Chinese Having Been Employed at High Levels by Siamese Royal Family in the Monopoly Trade

    Institute of Scientific and Technical Information of China (English)

    石维有

    2004-01-01

    This essay mainly discusses the similarities and mutual complementary in their interests and then makes a general survey of the process of how the Royal Family employed the oversea Chinese to engage in monopoly trade.

  13. Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment

    Institute of Scientific and Technical Information of China (English)

    Hong-Yang Wang; Ya-Li Zhao; Qiong Liu; Hu Yuan; Yun Gao; Lan Lan; Lan Yu

    2015-01-01

    Background: There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI), including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI).Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause.This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI.Methods: To decipher the genetic code of a Chinese family (family 686) with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing.These techniques were done on samples obtained from this family over a period of 10 years.Results: We identified a pathogenic missense mutation, c.2081G>A (p.G694E), in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL).The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members.In one of the two patients, we confirmed that the compound heterozygosity for p.Y136* and p.G45E in the GJB2 gene may account for the phenotype shown in this patient.Conclusions: We identified the co-occurrence of two genetic causes in family 686.The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL.It is necessary to combine various genes screening methods, especially for some unconventional cases.

  14. A novel mutation at the JK locus causing Jknull phenotype in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    MENG; Yan

    2005-01-01

    [1]Olivès, B., Mattei, M. G., Huet, M. et al., Kidd blood group and urea transport of human erythrocytes are carried by the same pro-tein, J. Biol. Chem., 1995, 270(26): 15607―15610.[2]Sands, J. M., Timmer, R. T., Gunn, R. B., Urea transporters in kidney and erythrocytes, Am. J. Physiol.,1997, 273: F321―F339.[3]Heaton, D. C., McLoughlin, K., Jk(a-b-) red blood cells resist urea lysis, Transfusion, 1982, 22(1): 70―71.[4]Sands, J. M., Gargus, J. J., Frohlich, O. et al., Urinary concentrating ability in patients with Jk(a-b-) blood type who lack carrier-mediated urea transport, J. Am. Soc. Nephrol., 1992, 2(12): 1689―1696.[5]Nidal, M., Irshaid, N. I., Eicher, H. H. et al., Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families, Br. J. Heaematol., 2002, 116(2): 445―453.[6]Okubo, Y., Yamaguchi, H., Nagao, N. et al., Heterogeneity of the pheno type JK(a-,b-) found in Japanese, Transfusion, 1986, 26(3): 237―239.[7]Olives, B., Merriman, M., Bailly, P. et al., The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility, Hum. Mol. Genet., 1997, 6(7): 1017―1020.[8]Fr(o)hlich, O., Macey, R. I., Edwards-Moulds, J. et al., Urea transport deficiency in Jk(ab) erythrocytes, Am. J. Physiol., 1991, 260: C778―C783.[9]Irshaid, N. M., Hustinx, H., Olsson, M. L., A novel molecular basis of the JK(a-b-) phenotype in a Swiss family, Vox. Sanguinis, 2000, 78(suppl 1): O019.[10]Lucien, N., Chiaroni, J., Cartron, J. P. et al., Partial deletion in the JK locus causing a Jk(null ) phenotype, Blood, 2002, 99(3): 1079―1081.[11]Yang, B., Verkman, A. S., Analysis of double knockout mice lacking aquaporin-1 and urea transporter UT-B: Evidence for UT-B facilitated water transport in erythrocytes, J. Biol. Chem., 2002, 277(39): 36782―36786.[12]Van Hoek, A. N., Verkman, A. S., Functional reconstitution of the isolated erythrocyte water channel CHIP28, J

  15. Attenuated Familial Adenomatous Polyposis (AFAP) Results from an international collaborative study

    DEFF Research Database (Denmark)

    Knudsen, A L; Bülow, S; Tomlinson, I;

    2010-01-01

    with presumed AFAP, defined as having /= 25. Results. One hundred and ninety six patients were included. The median number of adenomas was 25 (0-100) with a uniform distribution of colorectal adenomas and carcinomas (CRC). Age at CRC diagnosis was delayed by 15 years compared with classic FAP. Eighty two...... patients had a colectomy and an ileorectal anastomosis (IRA) and 5/82 (6%) had a secondary proctectomy. The location of the mutation in the APC gene was known in 69/171 (40%) tested patients. Only 15/29 (52%) of mutations in APC were found in parts of the gene usually associated with AFAP (the 5' end, exon...... 9 and 3' end). Conclusions. A subset of FAP patients with a milder phenotype does exist and treatment and surveillance should be modified accordingly. The mutation detection rate is lower than in classic FAP and mutations in AFAP patients are located throughout the APC gene. We propose the following...

  16. Surveillance and management of upper gastrointestinal disease in Familial Adenomatous Polyposis

    DEFF Research Database (Denmark)

    Gallagher, Michelle C; Phillips, Robin K S; Bülow, Steffen

    2006-01-01

    following prophylactic colectomy, the burden of foregut disease (particularly duodenal adenomatosis) will increase. Until recently, the value of upper gastrointestinal surveillance in FAP populations has been contentious, but with improved understanding of the natural history coupled with developments...... in surgery, interventional endoscopy and medical therapy, treatment algorithms for duodenal adenomatosis in FAP are becoming clearer....

  17. Duodenal surveillance improves the prognosis after duodenal cancer in familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen; Christensen, Ib Jarle; Højen, Helle

    2012-01-01

    of cancer development. Method:  Follow-up of patients in a previous study with gastroduodenoscopy in 1990-2010. Statistical analysis included chi(2) test, actuarial method and Kaplan-Meier analysis. Results:  Among 304 patients, 261 (86%) had more than one endoscopy. The median follow-up was 14 years...

  18. Duodenal surveillance improves the prognosis after duodenal cancer in familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen; Christensen, Ib Jarle; Højen, Helle

    2012-01-01

    of cancer development. Method: Follow-up of patients in a previous study with gastroduodenoscopy in 1990-2010. Statistical analysis included chi(2) test, actuarial method and Kaplan-Meier analysis. Results: Among 304 patients, 261 (86%) had more than one endoscopy. The median follow-up was 14 years...

  19. A proposed staging system and stage-specific interventions for familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Lynch, Patrick M; Morris, Jeffrey S; Wen, Sijin;

    2016-01-01

    in polyp burden as a sufficient chemoprevention trial treatment endpoint requiring a measure of "clinical-benefit." To develop endpoints for future industry-sponsored chemopreventive trials, the International Society for Gastrointestinal Hereditary Tumors (InSIGHT) developed an FAP staging and intervention...... classification scheme for lower GI tract polyposis. METHODS: Twenty-four colonoscopy or sigmoidoscopy videos were reviewed by 26 clinicians familiar with diagnosis and treatment of FAP. The reviewers independently assigned a stage to a case using the proposed system and chose a stage-specific intervention......% of scores were within ±1 stage of the mode. Sixty percent agreed on the intervention, and 86% chose an intervention within ±1 level of the mode. CONCLUSIONS: The proposed FAP colon polyposis staging system and stage-specific intervention is based on a high degree of agreement on the part of experts...

  20. [Proctocolectomy with ileoanal anastomoses and desmoid tumor treated with resection. One case of familial adenomatous polyposis].

    Science.gov (United States)

    Villalón-López, José Sebastián; Souto-del Bosque, Rosalía; Méndez-Sashida, Pedro Gonzalo

    2014-01-01

    Introducción: la poliposis adenomatosa familiar (PAF) es una rara enfermedad causada por una mutación en el gen de la poliposis adenomatosa coli (APC). Caso clínico: mujer de 32 años, con dolor y aumento del perímetro abdominal además de evacuaciones melénicas y pérdida de peso. La paciente presentó un tumor de 12 cm de diámetro en la fosa iliaca derecha. Tras la administración de medio de contraste, en una tomografía se apreció el tumor abdominal con reforzamiento compatible con sarcoma frente a tumor desmoide. Se realizó colonoscopia, por medio de la que se encontraron pólipos en el recto y el colon. La biopsia reportó adenomas túbulo-vellosos. Una panendoscopía demostró pólipos en fondo y cuerpo gástrico; el duodeno se encontraba en estado normal. Se realizó resección del tumor en pared abdominal y reconstrucción con malla además de proctocolectomía restaurativa con un reservorio íleo-anal con una ileostomía temporal. Se reportó tumor desmoide en la pared abdominal y se identificaron 152 pólipos túbulo-vellosos que afectaban todas las porciones del colon y el recto. Conclusiones: la PAF es una enfermedad autosómica dominante causada por una mutación en el gen APC que da como resultado el desarrollo de múltiples pólipos tanto en el colon como en el recto. Descrito en 1991, el gen APC se localiza en el cromosoma 5q21. Sin cirugía profiláctica, todos los pacientes desarrollarán cáncer colorrectal en la tercera década de la vida. Los tumores desmoides y los pólipos duodenales son ahora la causa de muerte en los pacientes con PAF.

  1. Colectomy and ileorectal anastomosis is still an option for selected patients with familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen; Bulow, C.; Vasen, H.;

    2008-01-01

    PURPOSE: The risk of rectal cancer after colectomy and ileorectal anastomosis may be reduced in the last decades, as patients with severe polyposis now have an ileoanal pouch. We have reevaluated the risk of rectal cancer and proctectomy for all causes according to the year of operation. METHODS......: On the basis of the year of operation in 776 patients with ileorectal anastomosis and 471 pouch patients in Denmark, Finland, Holland, and Sweden, the "pouch period" was defined to start in 1990. Ileorectal anastomosis follow-up data was captured by May 31, 2006. The cumulative risk of rectal cancer.......17) changed. However, in females the cumulative risk of rectal cancer (p = 0.04) and of proctectomy (p = 0.03) were lower in the pouch period. CONCLUSIONS: Since the introduction of the ileoanal pouch rectal cancer has decreased after ileorectal anastomosis, but only statistically significant in females...

  2. Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial hirschsprung's disease

    Institute of Scientific and Technical Information of China (English)

    Tao Guan; Ji-Cheng Li; Min-Ju Li; Jin-Fa Tou

    2005-01-01

    AIM: To investigate the relationship between mutations of rearranged during transfection (RET) proto-oncogene and Chinese patients with Hirschsprung's disease (HD), and to elucidate the genetic mechanism of familial HD patient at the molecular level.METHODS: Genomic DNA was extracted from venous blood of probands and their relatives in two genealogies.Polymerase chain reaction (PCR) products, which were amplified using specific primers (RET, exons 11, 13, 15and 17), were electrophoresed to analyze the single-strand conformational polymorphism (SSCP) patterns. The positive amplified products were sequenced. Forty-eight sporadic HD patients and 30 normal children were screened for mutations of RET proto-oncogene simultaneously.RESULTS: Three cases with HD in one family were found to have a G heterozygous insertion at nucleotide 18 974 in exon 13 of RET cDNA (18 974insG), which resulted in a frameshift mutation. In another family, a heterozygosity for T to G transition at nucleotide 18 888 in the same exon which resulted in a synonymous mutation of Leu at codon 745 was detected in the proband and his father. Eight RET mutations were confirmed in 48 sporadic HD patients.CONCLUSION: Mutations of RET proto-oncogene may play an important role in the pathogenesis of Chinese patients with HD. Detection of mutated RET proto-oncogene carriers may be used for genetic counseling of potential risk for HD in the affected families.

  3. A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family

    Directory of Open Access Journals (Sweden)

    Jing Liu

    2016-01-01

    Full Text Available Background: Congenital nystagmus (CN is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Chinese family with X-linked CN. Methods: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain-containing 7 gene (FRMD7 and G protein-coupled receptor 143 gene (GPR143 account for the majority patients of X-linked nystagmus. We collected 8 ml blood samples from members of a large sixth-generation pedigree with X-linked CN and 100 normal controls. FRMD7 and GPR143 were scanned by polymerase chain reaction (PCR-based DNA sequencing assays, and multiplex PCR assays were applied to detect deletions. Results: We identified a previously unreported deletion covering 7 exons in GPR143 in a Chinese family. The heterozygous deletion from exon 3 to exon 9 of GPR143 was detected in all affected males in the family, while it was not detected in other unaffected relatives or 100 normal controls. Conclusions: This is the first report of molecular characterization in GPR143 gene in the CN family. Our results expand the spectrum of GPR143 mutations causing CN and further confirm the role of GPR143 in the pathogenesis of CN.

  4. Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing

    Directory of Open Access Journals (Sweden)

    Qi Zhou

    2015-01-01

    Full Text Available Background. Retinitis pigmentosa (RP is an inherited retinal degenerative disease, which is clinically and genetically heterogeneous, and the inheritance pattern is complex. In this study, we have intended to study the possible association of certain genes with X-linked RP (XLRP in a Chinese family. Methods. A Chinese family with RP was recruited, and a total of seven individuals were enrolled in this genetic study. Genomic DNA was isolated from peripheral leukocytes, and used for the next generation sequencing (NGS. Results. The affected individual presented the clinical signs of XLRP. A heterozygous missense mutation (c.1555C>T, p.R519W was identified by NGS in exon 13 of the CACNA1F gene on X chromosome, and was confirmed by Sanger sequencing. It showed perfect cosegregation with the disease in the family. The mutation at this position in the CACNA1F gene of RP was found novel by database searching. Conclusion. By using NGS, we have found a novel heterozygous missense mutation (c.1555C>T, p.R519W in CACNA1F gene, which is probably associated with XLRP. The findings might provide new insights into the cause and diagnosis of RP, and have implications for genetic counseling and clinical management in this family.

  5. Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts

    Institute of Scientific and Technical Information of China (English)

    Han-Yi Min; Peng-Peng Qiao; Asan; Zhi-Hui Yan; Hui-Feng Jiang; Ya-Ping Zhu; Hui-Qian Du

    2016-01-01

    Background:Congenital cataract (CC) is the leading cause of visual impairment or blindness in children worldwide.Because of highly genetic and clinical heterogeneity,a molecular diagnosis of the lens disease remains a challenge.Methods:In this study,we tested a three-generation Chinese family with autosomal dominant CCs by targeted sequencing of 45 CC genes on next generation sequencing and evaluated the pathogenicity of the detected mutation by protein structure,pedigree validation,and molecular dynamics (MD) simulation.Results:A novel 15 bp deletion on GJA8 (c.426_440delGCTGGAGGGGACCCT or p.143_147delLEGTL) was detected in the family.The deletion,concemed with an in-frame deletion of 5 amino acid residues in a highly evolutionarily conserved region within the cytoplasmic loop domain of the gap junction channel protein connexin 50 (Cx50),was in full cosegregation with the cataract phenotypes in the family but not found in 1100 control exomes.MD simulation revealed that the introduction of the deletion destabilized the Cx50 gap junction channel,indicating the deletion as a dominant-negative mutation.Conclusions:The above results support the pathogenic role of the 15 bp deletion on GJA8 in the Chinese family and demonstrate targeted genes sequencing as a resolution to molecular diagnosis of CCs.

  6. A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family.

    Science.gov (United States)

    Zhao, Yali; Wang, Dayong; Zong, Liang; Zhao, Feifan; Guan, Liping; Zhang, Peng; Shi, Wei; Lan, Lan; Wang, Hongyang; Li, Qian; Han, Bing; Yang, Ling; Jin, Xin; Wang, Jian; Wang, Jun; Wang, Qiuju

    2014-01-01

    Mutations in the transmembrane channel-like gene 1 (TMC1) can cause both DFNA36 and DFNB7/11 hearing loss. More than thirty DFNB7/11 mutations have been reported, but only three DFNA36 mutations were reported previously. In this study, we found a large Chinese family with 222 family members showing post-lingual, progressive sensorineural hearing loss which were consistent with DFNA36 hearing loss. Auditory brainstem response (ABR) test of the youngest patient showed a special result with nearly normal threshold but prolonged latency, decreased amplitude, and the abnormal waveform morphology. Exome sequencing of the proband found four candidate variants in known hearing loss genes. Sanger sequencing in all family members found a novel variant c.1253T>A (p.M418K) in TMC1 at DFNA36 that co-segregated with the phenotype. This mutation in TMC1 is orthologous to the mutation found in the hearing loss mouse model named Bth ten years ago. In another 51 Chinese autosomal dominant hearing loss families, we screened the segments containing the dominant mutations of TMC1 and no functional variants were found. TMC1 is expressed in the hair cells in inner ear. Given the already known roles of TMC1 in the mechanotransduction in the cochlea and its expression in inner ear, our results may provide an interesting perspective into its function in inner ear.

  7. A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth mouse associated with autosomal dominant hearing loss in a Chinese family.

    Directory of Open Access Journals (Sweden)

    Yali Zhao

    Full Text Available Mutations in the transmembrane channel-like gene 1 (TMC1 can cause both DFNA36 and DFNB7/11 hearing loss. More than thirty DFNB7/11 mutations have been reported, but only three DFNA36 mutations were reported previously. In this study, we found a large Chinese family with 222 family members showing post-lingual, progressive sensorineural hearing loss which were consistent with DFNA36 hearing loss. Auditory brainstem response (ABR test of the youngest patient showed a special result with nearly normal threshold but prolonged latency, decreased amplitude, and the abnormal waveform morphology. Exome sequencing of the proband found four candidate variants in known hearing loss genes. Sanger sequencing in all family members found a novel variant c.1253T>A (p.M418K in TMC1 at DFNA36 that co-segregated with the phenotype. This mutation in TMC1 is orthologous to the mutation found in the hearing loss mouse model named Bth ten years ago. In another 51 Chinese autosomal dominant hearing loss families, we screened the segments containing the dominant mutations of TMC1 and no functional variants were found. TMC1 is expressed in the hair cells in inner ear. Given the already known roles of TMC1 in the mechanotransduction in the cochlea and its expression in inner ear, our results may provide an interesting perspective into its function in inner ear.

  8. Three cases of congenital dysfibrinogenemia in unrelated Chinese families: heterozygous missense mutation in fibrinogen alpha chain Argl6His.

    Science.gov (United States)

    Luo, Meiling; Deng, Donghong; Xiang, Liqun; Cheng, Peng; Liao, Lin; Deng, Xuelian; Yan, Jie; Lin, Faquan

    2016-09-01

    Congenital dysfibrinogenemia (CD) is a qualitative fibrinogen disorder caused by an abnormal fibrinogen molecule structure, leading to dysfunctional blood coagulation. This study describes 3 cases of dysfibrinogenemia identified in the unrelated Chinese pedigrees.Routine coagulation screening tests were performed on the probands and their families. The antigens and functionality of fibrinogen was measured using an immunoturbidimetry assay and the Clauss method, respectively. To identify the genetic mutation responsible for these dysfibrinogens, genomic DNA extracted from the blood was analyzed using PCR amplification and direct sequencing. The presence of the mutant chains was determined using matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectroscopy. Purified plasma fibrinogen of 3 probands was analyzed using SDS-PAGE, fibrinogen clottability, fibrin polymerization, fibrinopeptide release, and scanning electron microscopy (SEM).The 3 probands had a long thrombin time. Levels of functional fibrinogen were found to be very low, while the fibrinogen antigen was within the normal range. DNA sequencing revealed a heterozygous Arg16His substitution in the fibrinogen Aα chain (FGA). The mutant chains were found to be expressed using MALDI-TOF mass spectroscopy. SDS-PAGE did not reveal any difference in the molecular weights of 3 polypeptide chains between normal and abnormal fibrinogens. Fibrinogen clottability showed a slower fibrin clot formation than the healthy control. Fibrin polymerization, after addition of thrombin, showed a prolonged lag phase and decreased final turbidity. The kinetics of fibrinopeptides release revealed a decreased amount of the released fibrinopeptide A. SEM of the patient's fibrin clot was found to be abnormal.Results indicate that the 3 probands with dysfibrinogenemia were caused by mutations of Aα chain Arg16His. Mutation of this fibrinogen induced dysfunction of plasma fibrinogen.

  9. Clinical features and growth hormone receptor gene mutations of patients with Laron syndrome from a Chinese family.

    Science.gov (United States)

    Ying, Yan-Qin; Wei, Hong; Cao, Li-Zhi; Lu, Juan-Juan; Luo, Xiao-Ping

    2007-08-01

    Laron syndrome is an autosomal recessive disorder caused by defects of growth hormone receptor (GHR) gene. It is characterized by severe postnatal growth retardation and characteristic facial features as well as high circulating levels of growth hormone (GH) and low levels of insulin-like growth factor I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3). This report described the clinical features and GHR gene mutations in 2 siblings with Laron syndrome in a Chinese family. Their heights and weights were in the normal range at birth, but the growth was retarded after birth. When they presented to the clinic, the heights of the boy (8 years old) and his sister (11 years old) were 80.0 cm (-8.2 SDS) and 96.6 cm (-6.8 SDS) respectively. They had typical appearance features of Laron syndrome such as short stature and obesity, with protruding forehead, saddle nose, large eyes, sparse and thin silky hair and high-pitched voice. They had higher basal serum GH levels and lower serum levels of IGF-I, IGFBP-3 and growth hormone binding protein (GHBP) than normal controls. The peak serum GH level after colonidine and insulin stimulations in the boy was over 350 ng/mL. After one-year rhGH treatment, the boy's height increased from 80.0 cm to 83.3 cm. The gene mutation analysis revealed that two patients had same homozygous mutation of S65H (TCA -->CCA) in exon 4, which is a novel gene mutation. It was concluded that a definite diagnosis of Laron syndrome can be made based on characteristic appearance features and serum levels of GH, IGF-I, IGFBP-3 and GHBP. The S65H mutation might be the cause of Laron syndrome in the two patients.

  10. Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition

    OpenAIRE

    Wallis, Y.; Morton, D; McKeown, C; Macdonald, F

    1999-01-01

    BACKGROUND/AIMS—The development of colorectal cancer and a variable range of extracolonic manifestations in familial adenomatous polyposis (FAP) is the result of the dominant inheritance of adenomatous polyposis coli (APC) gene mutations. In this study, direct mutation analysis of the APC gene was performed to determine genotype-phenotype correlations for nine extracolonic manifestations and to investigate the incidence of APC mutations in non-FAP colorectal cancer.
METHODS—The APC gene was a...

  11. Deep vein thrombosis in a patient of adenomatous polyposis coli treated successfully with aspirin: A case report

    Science.gov (United States)

    Agrawal, Neha; Santra, Tuhin; Kar, Arnab; Guha, Pradipta; Bar, Mita; Adhikary, Apu; Datta, Sumana

    2016-01-01

    Background: Deep vein thrombosis is an important cause of morbidity and mortality. However, its association with adenomatous polyposis coli is extremely rare. Here we present an interesting case of deep vein thrombosis associated with adenomatous polyposis coli. Case Presentation: A 15 year old female who was having fever and diarrhea for 5 months developed bilateral asymmetric painful swelling of lower limbs for 1 month. Doppler ultrasound of lower limbs revealed presence of thrombosis from inferior vena cava up to popliteal vein. Colonoscopy and biopsy were suggestive of adenomatous polyposis coli. However, she could not tolerate anticoagulant therapy and was put on aspirin therapy for 6 months to which she responded well with the resolution of thrombus. Conclusion: Role of aspirin therapy may be considered whenever a patient of venous thrombosis cannot tolerate anticoagulant therapy. PMID:27386068

  12. Tubercular thyroiditis with multinodular goitre with adenomatous hyperplasia: a rare coexistence.

    Science.gov (United States)

    Chaurasia, Jai Kumar; Garg, Cheena; Agarwal, Arjun; Naim, Mohammed

    2013-09-25

    A 32-year-old Indian woman presented with swelling in the anterior part of the neck for the last 3 years. Clinical and radiological examination and fine needle aspiration cytology suggested the diagnosis of multinodular goitre. A subtotal thyroidectomy was performed by the surgeon and the specimen was submitted for the final diagnosis. Histological examination of the specimen revealed multiple caseating tubercular granulomas coexistent with multinodular goitre and adenomatous hyperplasia. The sections demonstrated acid-fast tubercle bacteria, confirming the diagnosis of tubercular thyroiditis. This case emphasises that tubercular thyroiditis should always be considered in patients with thyroid swelling or nodule, in countries where the prevalence of tuberculosis is high.

  13. Family income, parental education and internalizing and externalizing psychopathology among 2-3-year-old Chinese children: the mediator effect of parent-child conflict.

    Science.gov (United States)

    Zhang, Xiao

    2014-02-01

    Using a sample of 156 Chinese children aged 2-3 years and their parents, this study examined the effects of socio-economic status, specifically family income and parental education, on the children's internalizing and externalizing psychopathology and whether these effects were mediated by mother-child and father-child conflict. Results indicated that family income, maternal education and paternal education all negatively predicted externalizing symptoms. Income also negatively predicted internalizing symptoms among boys but not girls. Maternal education negatively predicted internalizing symptoms among girls but not boys. The effects of income on psychopathology were fully mediated by mother-child and father-child conflict. In contrast, the effects of education were not mediated or only partially mediated by conflict. Findings are discussed in the framework of the family stress model.

  14. The Problems about Human Resources Transmission of Intergeneration among Chinese Family Businesses%我国家族企业人力资源代际传承研究

    Institute of Scientific and Technical Information of China (English)

    汤向东

    2014-01-01

    After Chinese economic development of thirty years ,it is necessary for the successor to take over in their family businesses .However ,there is a contradiction between the two generations of the Chi-nese family businesses ,w hile there are also some problems for the heir in the family business .First of all , the inheritors of family businesses should have a good attitude and active cooperation ;secondly ,it is im-portant for the family businesses carefully selecting and training the successors ;lastly ,it is necessary for the family businesses to establish a corporative structure with better management .Moreover ,it should at-tract professional operation managers from outside .%我国家族企业经过三十年的发展,现在已经到了接班人接班的时候了。但是,我国家族企业两代人之间存在矛盾;家族企业的继承人也存在一些不足。因此,为使家族企业能够顺利交接班,首先,我国家族企业的传承人要有良好的态度及进行积极地配合;其次,要对家族企业的继承人进行精心的挑选和培养;最后,家族企业有必要建立法人治理结构,从人才市场有计划地引入职业经理人。

  15. Biochemical and immunohistochemical estrogen and progesterone receptors in adenomatous hyperplasia and endometrial carcinoma: correlations with stage and other clinicopathologic features

    DEFF Research Database (Denmark)

    Nyholm, H C; Nielsen, A L; Lyndrup, J;

    1992-01-01

    OBJECTIVE: This study investigates clinicopathologic associations of estrogen and progesterone receptor content in endometrial carcinoma. STUDY DESIGN: One hundred fifty-two patients with endometrial cancer and 12 with adenomatous hyperplasia were included. Dextran-coated charcoal receptor assay...... of International Federation of Gynecology and Obstetrics grade. Age of patient, years since menopause, and previous estrogen treatment were not related to receptor content. In adenomatous hyperplasia high progesterone receptor levels were seen. CONCLUSION: The inverse correlation between clinical stage...... of endometrial carcinoma and content of estrogen and progesterone receptors may reflect tumor biologic behavior....

  16. Aberrant methylation of the adenomatous polyposis coli (APC) gene promoter 1A in breast and lung carcinomas.

    Science.gov (United States)

    Virmani, A K; Rathi, A; Sathyanarayana, U G; Padar, A; Huang, C X; Cunnigham, H T; Farinas, A J; Milchgrub, S; Euhus, D M; Gilcrease, M; Herman, J; Minna, J D; Gazdar, A F

    2001-07-01

    The adenomatous polyposis coli (APC) gene is a tumor suppressor gene associated with both familial and sporadic cancer. Despite high rates of allelic loss in lung and breast cancers, point mutations of the APC gene are infrequent in these cancer types. Aberrant methylation of the APC promoter 1A occurs in some colorectal and gastric malignancies, and we investigated whether the same mechanism occurs in lung and breast cancers. The methylation status of the APC gene promoter 1A was analyzed in 77 breast, 50 small cell (SCLC), and 106 non-small cell (NSCLC) lung cancer tumors and cell lines and in 68 nonmalignant tissues by methylation-specific PCR. Expression of the APC promoter 1A transcript was examined in a subset of cell lines by reverse transcription-PCR, and loss of heterozygosity at the gene locus was analyzed by the use of 12 microsatellite and polymorphic markers. Statistical tests were two-sided. Promoter 1A was methylated in 34 of 77 breast cancer tumors and cell lines (44%), in 56 of 106 NSCLC tumors and cell lines (53%), in 13 of 50 SCLC cell lines (26%), and in 3 of 68 nonmalignant samples (4%). Most cell lines tested contained the unmethylated or methylated form exclusively. In 27 cell lines tested, there was complete concordance between promoter methylation and silencing of its transcript. Demethylation with 5-aza-2'-deoxycytidine treatment restored transcript 1A expression in all eight methylated cell lines tested. Loss of heterozygosity at the APC locus was observed in 85% of SCLCs, 83% of NSCLCs, and 63% of breast cancer cell lines. The frequency of methylation in breast cancers increased with tumor stage and size. In summary, aberrant methylation of the 1A promoter of the APC gene and loss of its specific transcript is frequently present in breast and NSCLC cancers and cell lines and, to a lesser extent, in SCLC cell lines. Our findings may be of biological and clinical importance.

  17. 中国家族企业继任模式研究%A Study on the Succession Pattern for Chinese Family Business

    Institute of Scientific and Technical Information of China (English)

    何莹; 赵曙明; 王德才

    2013-01-01

    Based on the research of family business succession theory,this paper found different kinds of succession pat--terns,that are,children succession,internal succession and professional manager succession.Through the analysis of these patterns,the paper constructs the factors which have influenced Chinese family business to choose their succession pattern. The result shows that Chinese family business should choose the professional manager succession to improve their enterprises in the future.%  文章通过对家族企业继任理论的探究,找出家族企业不同的继任模式。通过对这些继任模式的分析,构建影响中国家族企业选择不同继任模式的因素。结果表明,未来的中国家族企业继任模式主要是所有权与经营权分离、引进职业经理人的道路模式。

  18. Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3'fibrillin-1 gene mutations with phenotype

    Institute of Scientific and Technical Information of China (English)

    GAO Ling-gen; ZHANG Lin; SONG Lei; WANG Hu; CHANG Qian; WU Yong-bo; HUI Ru-tai; ZHOU Xian-liang

    2010-01-01

    Background Mutations in the fibrillin-1 gene have been identified in patients with Marfan syndrome (MFS). This study aimed to identify the molecular defects in the fibrillin-1 gene in a Chinese family with Marfan syndrome, accompanied by aortic aneurysms/dissection.Methods Two patients and one non-carrier in the family underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the family as well as 50 healthy normal controls. Polymerase chain reaction amplification and direct sequencing of all 65 coding exons of fibrillin-1 gene were analyzed.Results We found a novel mutation (c.8547T>G, p. Tyr2849X) in exon 65 of fibrillin-1 gene in a Chinese proband with Marfan syndrome, accompanied by aortic aneurysms/dissection. Sudden death at a young age of affected members was seen due to aortic aneurysms/dissection. By evaluating genotype-phenotype correlations of patients with mutations in the 3'end of fibrillin-1 gene (exons 64 and 65), we also found that the presence of nonsense mutations occurring in exons 64 and 65 appeared to be an indicator of early-onset aortic risk and sudden death.Conclusions These results expand the mutation spectrum of fibrillin-1 gene and help in the study of the molecular pathogenesis of Marfan syndrome, indicating that mutations occurring in the 3' end of fibrillin-1 gene may play an independent functional role in the pathogenesis of Marfan syndrome.

  19. Early onset Paget's disease of bone caused by a novel mutation (78dup27) of the TNFRSF11A gene in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    Yao-hua KE; Hua YUE; Jin-wei HE; Yu-juan LIU; Zhen-lin ZHANG

    2009-01-01

    Aim: A previous study showed that individuals of Japanese descent affected by early onset familial Paget's disease of bone (PDB) car-ried a 27-bp duplication at position 75 (75dup27) in the TNFRSF11A gene encoding RANK. Here we report the identification of a novel mutation (78dup27) in exon 1 of TNFRSF11A in a Chinese family with early onset PDB. Methods: We conducted clinical and genetic studies in a non-consanguineous Chinese family with early onset PDB. The entire coding region of TNFRSF11A was amplified and directly sequenced directly.Results: A novel 27-bp duplication in exon 1 (78dup27) in TNFRSF11A was found in four affected individuals and one asymptomatic individual. Although this duplication was the same length as the previously identified mutation (27 bp, from bases 78 to 104), in our patients the nine duplicated amino acids in the RANK signal peptide were LLLLCALLA. The phenotypes of affected individuals in this family overlapped with both early onset PDB and classic PDB, but several distinguishing features were found in our patients. The key difference between our familial PDB and the Japanese early onset PDB was the age of onset, which in most of our patients was during their late 20s (except for the propositus' niece). Another notable difference was that the propositus' son (24 years old), who carried the 78dup27 mutation, had no clinical symptoms or bone abnormalities, except for increased serum ALP, OC and CTX.Conclusion: Our findings may provide a better understanding of the clinical features of early onset PDB and support the notion of a hot spot for mutations in exon 1 of the TNFRSF11A gene.

  20. Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.

    Science.gov (United States)

    Shentu, Xingchao; Miao, Qi; Tang, Xiajing; Yin, Houfa; Zhao, Yingying

    2015-01-01

    Congenital cataracts are major cause of visual impairment and blindness in children and previous studies have shown about 1/3 of non-syndromic congenital cataracts are inherited. Major intrinsic protein of the lens (MIP), also known as AQP0, plays a critical role in transparency and development of the lens. To date, more than 10 mutations in MIP have been linked to hereditary cataracts in humans. In this study, we investigated the genetic and functional defects underlying a four-generation Chinese family affected with congenital progressive cortical punctate cataract. Mutation screening of the candidate genes revealed a missense mutation at position 448 (c.448G>C) of MIP, which resulted in the substitution of a conserved aspartic acid with histidine at codon 150 (p.D150H). By linkage and haplotype analysis, we obtained positive multipoint logarithm of odds (LOD) scores at microsatellite markers D12S1632 (Zmax = 1.804 at α = 1.000) and D12S1691 (Zmax = 1.806 at α = 1.000), which flanked the candidate locus. The prediction results of PolyPhen-2 and SIFT indicated that the p.D150H mutation was likely to damage to the structure and function of AQP0. The wild type and p.D150H mutant AQP0 were expressed in HeLa cells separately and the immunofluorescence results showed that the WT-AQP0 distributed at the plasma membrane and in cytoplasm, while AQP0-D150H failed to reach the plasma membrane and was mainly retained in the Golgi apparatus. Moreover, protein levels of AQP0-D150H were significantly lower than those of wide type AQP0 in membrane-enriched lysates when the HEK-293T cells were transfected with the same amount of wild type and mutant plasmids individually. Taken together, our data suggest the p.D150H mutation is a novel disease-causing mutation in MIP, which leads to congenital progressive cortical punctate cataract by impairing the trafficking mechanism of AQP0.

  1. Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families.

    Science.gov (United States)

    Zhang, Juanjuan; Jiang, Pingping; Jin, Xiaofen; Liu, Xiaoling; Zhang, Minglian; Xie, Shipeng; Gao, Min; Zhang, Sai; Sun, Yan-Hong; Zhu, Jinping; Ji, Yanchun; Wei, Qi-Ping; Tong, Yi; Guan, Min-Xin

    2014-09-01

    In this report, we investigated the molecular mechanism underlying Leber's hereditary optic neuropathy (LHON)-associated mitochondrial m.3635G>A (p.S110N, ND1) mutation. A mutational screening of ND1 gene in a cohort of 1070 Han Chinese subjects LHON identified the m.3635G>A mutation in nine Chinese families with suggestively maternally transmitted LHON. Thirty-eight (22 males/16 females) of 162 matrilineal relatives in these families exhibited the variable severity and age-at-onset of optic neuropathy. Molecular analysis of their mitochondrial genomes identified the homoplasmic m.3635G>A mutation and distinct sets of polymorphisms belonging to the Asian haplogroups G2a1, R11a, D4, R11a, M7b2, G1a, F1a1, B4, and N9a3, respectively. Using cybrids constructed by transferring mitochondria from lymphoblastoid cell lines derived from one Chinese family into mtDNA-less (ρ(0)) cells, we showed ~27% decrease in the activity of NADH:ubiquinone oxidoreductase (complex I) in mutant cybrids carrying the m.3635G>A mutation, compared with control cybrids. The respiratory deficiency caused by the m.3635G>A mutation results in decreased efficiency of mitochondrial ATP synthesis. These mitochondrial dysfunctions caused an increase in the production of reactive oxygen species in the mutant cybrids. The data provide the direct evidence for the m.3635G>A mutation leading to LHON. Our findings may provide new insights into the understanding of pathophysiology of LHON.

  2. 中文版Feetham家庭功能量表的信效度%Validity and Reliability of Chinese Version of Feetham Family Functioning Survey

    Institute of Scientific and Technical Information of China (English)

    张莹; 魏珉

    2012-01-01

    目的 检验中文版Feetham家庭功能量表(Feetham family functioning survey,FFFS)的信度和效度.方法 以方便抽样法选取399名慢性病患儿的主要照顾者对其进行中文版FFFS的调查,以检验FFFS的信度和效度.结果 因子分析得到6个公因子,共解释58.61%的方差.与中文版家庭功能评定(family assessment device,FAD)进行效度比较,Pearson相关系数=0.37,P<0.01.中文版FFFS各分量表的Cronbach α系数为0.69~0.90,量表各因子间相关系数为0.47~0.63,P<0.01;与总量表的相关系数为0.75~0.89,P<0.01.结论 中文版FFFS具有良好的信度和效度,可用于我国慢性病患儿家庭功能的测评.%Objective To assess the validity and reliability of the Chinese version of Feetham Family Functioning Survey (FFFS). Methods FFFS was administered to 399 caregivers of children with chronic diseases to conduct psychometric test. Results The results of factor analysis indicated 6 factors explaining 58. 61% variance. Concurrent validity (Pearson correlation coefficient = 0. 37,PFamily Assessment Device (FAD). Internal consistency reliability for the scales ranged from 0. 69 to 0. 90. The correlation coefficients of each dimension and the total scale were 0.47~0. 63(P<0. 01) and 0. 75 ~0. 89(P<0. 01), respectively. Conclusion The psychometric property of the Chinese version of FFFS is acceptable as a reliable and valid instrument to measure the family function of Chinese families of children with chronic disease.

  3. A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1.

    Science.gov (United States)

    Cai, S P; Fan, N; Chen, J; Xia, Z L; Wang, Y; Zhou, X M; Yin, Y; Wen, T L; Xia, Q J; Liu, X Y; Wang, H Y

    2014-07-24

    This study aimed to characterize the clinical features of a Chinese pedigree with neurofibromatosis type 1 (NF1) and to identify mutations in the NF1 gene. In this three-generation family containing 8 members, 5 had been diagnosed with NF1 and the others were asymptomatic. All members of the family underwent complete medical examinations. Molecular genetic analyses were performed on all subjects included in the study. All exons of NF1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database. Possible changes in function of the protein induced by amino acid variants were predicted by bioinformatic analysis. In this family, the 5 patients presented different clinical phenotypes, but all manifested typical café-au-lait macules. One novel frame-shift mutation, c.702_703delGT, in exon 7 of NF1 was identified in all affected family members, but not in the unaffected family members or in 102 normal controls. This mutation generates a premature stop codon at amino acid position 720. Additionally, a synonymous mutation c.702 G>A was found in 3 family members, including 2 affected and 1 normal individuals. In conclusion, our study suggests that a novel c.702_703delGT frame-shift mutation in NF1 is likely to be responsible for the pathogenesis of NF1 in this family. To the best of our knowledge, it is the first time that a c.702_703delGT mutation has been identified in a family with neurofibromatosis type 1.

  4. Cloning,characterization,and expression analysis of the DEAD-box family genes,Fc-vasa and Fc-PL10a,in Chinese shrimp (Fenneropenaeus chinensis)

    Institute of Scientific and Technical Information of China (English)

    周倩如; 邵明瑜; 秦贞奎; 康庆浩; 张志峰

    2010-01-01

    RNA helicases of the DEAD-box and related families are involved in various cellular processes including DNA replication,DNA repair,and RNA processing.However,the function of DEAD-box proteins in aquaculture species is poorly understood at molecular level.We obtained the full-length cDNA sequences of two genes encoding helicase-related proteins,Fc-vasa and Fc-PL10a,from the testes of Chinese shrimp,Fenneropenaeus chinensis.The two predicted amino acid sequences contain all the conserved motifs characterized ...

  5. Clinical and molecular analysis of a Chinese family with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel missense mutation in the vasopressin-neurophysin II gene.

    Science.gov (United States)

    Luo, Yongfeng; Wang, Binbin; Qiu, Yu; Zhang, Chuan; Jin, Chengluo; Zhao, Yakun; Zhu, Qingguo; Ma, Xu

    2012-08-01

    The objective of this study is to identify the genetic defects in a Chinese family with autosomal dominant familial neurohypophyseal diabetes insipidus. Complete physical examination, fluid deprivation, and DDAVP tests were performed in three affected and three healthy members of the family. Genomic DNA was extracted from leukocytes of venous blood of these individuals for polymerase chain reaction amplification and direct sequencing of all three coding exons of arginine vasopressin-neurophysin II (AVP-NPII) gene. Seven members of this family were suspected to have symptomatic vasopressin-deficient diabetes insipidus. The water deprivation test in all the patients confirmed the diagnosis of vasopressin-deficient diabetes insipidus, with the pedigree demonstrating an autosomal dominant inheritance. Direct sequence analysis revealed a novel mutation (c.193T>A) and a synonymous mutation (c.192C>A) in the AVP-NPII gene. The missense mutation resulted in the substitution of cysteine by serine at a highly conserved codon 65 of exon 2 of the AVP-NPII gene in all affected individuals, but not in unaffected members. We concluded that a novel missense mutation in the AVP-NPII gene caused neurohypophyseal diabetes insipidus in this family, due to impaired neurophysin function as a carrier protein for AVP. The Cys65 is essential for NPII in the formation of a salt bridge with AVP. Presence of this mutation suggests that the portion of the neurophysin peptide encoded by this sequence is important for the normal expression of vasopressin.

  6. The Solution of Chinese Family Business Succession%中国家族企业代际传承关键问题研究

    Institute of Scientific and Technical Information of China (English)

    宋沛军

    2011-01-01

    Intergenerational succession of family business is one of the most important strategic decision problems.Looking at Chinese and foreign enterprises on the intergenerational transmission of family patterns,"to inherit from his father" is still the preferred shift in many ways the family business.To this end,parents should let their children get into the business as soon as possible,undertake the important task of business development,practice and competition through timely transmission of family business ownership and management rights,keep the family business continued to grow and life continue,inherit the spiritual heritage,the ideal and culture of the entrepreneur.%代际传承是家族企业最重大的战略决策问题之一。纵观中外关于家族企业代际传承模式,"子承父业"仍是许多家族企业首选的交接班方式。为此,父辈应尽早让子女融入企业,承担企业发展的重任,通过实践和竞争适时传承家族企业所有权和经营管理权,保持家族企业的持续成长与生命延续、传承创业者的精神、理想和文化。

  7. Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A.

    Directory of Open Access Journals (Sweden)

    Shufeng Li

    Full Text Available Here we report two unrelated Chinese families with congenital missing teeth inherited in an X-linked manner. We mapped the affected locus to chromosome Xp11-Xq21 in one family. In the defined region, both families were found to have novel missense mutations in the ectodysplasin-A (EDA gene. The mutation of c.947A>G caused the D316G substitution of the EDA protein. The mutation of c.1013C>T found in the other family resulted in the Thr to Met mutation at position 338 of EDA. The EDA gene has been reported responsible for X-linked hypohidrotic ectodermal dysplasia (XLHED in humans characterized by impaired development of hair, eccrine sweat glands, and teeth. In contrast, all the affected individuals in the two families that we studied here had normal hair and skin. Structural analysis suggests that these two novel mutants may account for the milder phenotype by affecting the stability of EDA trimers. Our results indicate that these novel missense mutations in EDA are associated with the isolated tooth agenesis and provide preliminary explanation for the abnormal clinical phenotype at a molecular structural level.

  8. EPITHELIAL-CELL PROLIFERATION IN THE SIGMOID COLON OF PATIENTS WITH ADENOMATOUS POLYPS INCREASES DURING ORAL CALCIUM SUPPLEMENTATION

    NARCIS (Netherlands)

    KLEIBEUKER, JH; WELBERG, JWM; MULDER, NH; VANDERMEER, R; CATS, A; LIMBURG, AJ; KREUMER, WMT; HARDONK, MJ; DEVRIES, EGE

    1993-01-01

    To study the effect of oral supplemental calcium on colonic epithelial proliferation, 17 adenomatous polyp patients received 1.5 g Ca2+ as calcium carbonate daily during 12 weeks, while on a calcium constant diet, based on the patients' habitual diet. Seven subsequently continued calcium supplementa

  9. A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome

    Directory of Open Access Journals (Sweden)

    Shujuan Jiang

    2014-11-01

    Full Text Available Nail patella syndrome (NPS is an autosomal dominant disorder characterized by nail malformations, patellar apoplasia, or patellar hypoplasia. Mutations within the LMX1B gene are found in 85% of families with NPS; thus, this gene has been characterized as the causative gene of NPS. In this study, we identified a heterozygous microdeletion of the entire LMX1B gene using multiplex ligation-dependent probe amplification (MLPA in a Chinese family with NPS. The determination of the deletion breakpoints by Illumina genome-wide DNA analysis beadchip showed that the deletion was located in chromosome 9q33.3 and spanned about 0.66 Mb in size. This heterozygous deletion provides strong evidence for haploinsufficiency as the pathogenic mechanism of NPS.

  10. On the Contradiction of Chinese Parents' Family Educa-tion in America%华裔父母在美国的家庭教育冲突

    Institute of Scientific and Technical Information of China (English)

    翟丛生

    2015-01-01

    中国人移民到美国的现象越来越多,华裔的孩子的家庭教育问题一直是备受关注的教育问题,《虎妈战争》一书出版的时候引起了全世界的热烈反响,更是引发了激烈的教育文化冲突.如何正确面对中国式教育在美国的冲突是我们值得思考的问题.%With more and more Chinese people migrating to America, the family education of Chinese children has become an education issue that is highly concerned. The publication of the book "Battle Hymn of the Tiger Mother" aroused the strong re-sponse around the world, and also triggered a fierce contradiction of education cultures. Therefore, how to correctly deal with the contradiction of Chinese-style education in America is an issue worthy of our thinking.

  11. Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma

    Institute of Scientific and Technical Information of China (English)

    Rong-Feng Liao; Zi-Lin Zhong; Min-Jie Ye; Li-Yun Han; Dong-Qing Ye; Jian-Jun Chen

    2016-01-01

    Background:Glaucoma is a major cause of irreversible blindness worldwide.There is evidence showing that a subset of the disease is genetically determined.In this study,we screened for mutations in chromosome 1q-linked open-angle glaucoma (GLC1A) in a Chinese family with primary open-angle glaucoma (POAG).Methods:A total of 23 members from five generations of a family were enrolled and underwent thorough ophthalmologic examinations.In addition,200 unrelated healthy Chinese controls were also recruited as normal control.GLC1A gene was amplified by polymerase chain reaction,and DNA sequencing was performed to screen for mutations.Results:Six members were diagnosed as POAG,with severe clinical manifestations,and history of high intraocular pressures.The mean age of disease onset was 26.3 years.However,the others were asymptomatic.In six affected and three asymptomatic members,gene sequencing revealed a mutation c.C1456T in exon 3 of myocilin gene (MYOC).Furthermore,we also identified a novel mutation c.G322A in beta-1,4-galactosyltransferase 3 (B4GALT3) gene in all six affected and three asymptomatic members,which was not reported previously in POAG patients.The two newly identified variants were absent in other family members as well as controls.Conclusion:The mutations c.1456C<T (p.L486F) in MYOC and c.322G<A (p.V108I) in B4GALT3 are likely responsible for the pathogenesis of POAG in this family.

  12. Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma

    Science.gov (United States)

    Liao, Rong-Feng; Zhong, Zi-Lin; Ye, Min-Jie; Han, Li-Yun; Ye, Dong-Qing; Chen, Jian-Jun

    2016-01-01

    Background: Glaucoma is a major cause of irreversible blindness worldwide. There is evidence showing that a subset of the disease is genetically determined. In this study, we screened for mutations in chromosome 1q-linked open-angle glaucoma (GLC1A) in a Chinese family with primary open-angle glaucoma (POAG). Methods: A total of 23 members from five generations of a family were enrolled and underwent thorough ophthalmologic examinations. In addition, 200 unrelated healthy Chinese controls were also recruited as normal control. GLC1A gene was amplified by polymerase chain reaction, and DNA sequencing was performed to screen for mutations. Results: Six members were diagnosed as POAG, with severe clinical manifestations, and history of high intraocular pressures. The mean age of disease onset was 26.3 years. However, the others were asymptomatic. In six affected and three asymptomatic members, gene sequencing revealed a mutation c.C1456T in exon 3 of myocilin gene (MYOC). Furthermore, we also identified a novel mutation c.G322A in beta-1,4-galactosyltransferase 3 (B4GALT3) gene in all six affected and three asymptomatic members, which was not reported previously in POAG patients. The two newly identified variants were absent in other family members as well as controls. Conclusion: The mutations c.1456Cfamily. PMID:27900994

  13. Association between Work-Family Conflict and Depressive Symptoms among Chinese Female Nurses: The Mediating and Moderating Role of Psychological Capital

    Directory of Open Access Journals (Sweden)

    Junhui Hao

    2015-06-01

    Full Text Available Depressive symptoms have been in the limelight for many kinds of people, but few studies have explored positive resources for combating depressive symptoms among Chinese nurses. The purpose of this study is to explore the association between work-family conflict (WFC and depressive symptoms among Chinese female nurses, along with the mediating and moderating role of psychological capital (PsyCap in this relationship. This cross-sectional study was completed during the period of September and October 2013. A questionnaire that consisted of the Center for Epidemiologic Studies Depression Scale, the Work-Family Conflict scale and the Psychological Capital Questionnair scale was distributed to nurses in Shenyang, China. A total of 824 individuals (effective response rate: 74.9% participated. Asymptotic and resampling strategies explored the mediating role of PsyCap in the relationship between WFC and depressive symptoms. Hierarchical linear regression analyses were performed to explore the moderating role of PsyCap. Both WFC and family-work conflict (FWC were positively related with depressive symptoms. PsyCap positively moderated the relationship of WFC with depressive symptoms. Self-efficacy and hope positively moderated the relationship of WFC with depressive symptoms. PsyCap partially mediated the relationship of FWC with depressive symptoms. Hope and optimism partially mediated the relationship of FWC with depressive symptoms. Work-family conflict, as the risk factor of depressive symptoms, can increase nurses’ depressive symptoms, and PsyCap is a positive resource to combat nurses’ depressive symptoms. PsyCap can aggravate the effects of WFC on depressive symptoms and FWC can impact PsyCap to increase nurses’ depressive symptoms.

  14. Association between Work-Family Conflict and Depressive Symptoms among Chinese Female Nurses: The Mediating and Moderating Role of Psychological Capital.

    Science.gov (United States)

    Hao, Junhui; Wu, Di; Liu, Li; Li, Xirui; Wu, Hui

    2015-06-12

    Depressive symptoms have been in the limelight for many kinds of people, but few studies have explored positive resources for combating depressive symptoms among Chinese nurses. The purpose of this study is to explore the association between work-family conflict (WFC) and depressive symptoms among Chinese female nurses, along with the mediating and moderating role of psychological capital (PsyCap) in this relationship. This cross-sectional study was completed during the period of September and October 2013. A questionnaire that consisted of the Center for Epidemiologic Studies Depression Scale, the Work-Family Conflict scale and the Psychological Capital Questionnair scale was distributed to nurses in Shenyang, China. A total of 824 individuals (effective response rate: 74.9%) participated. Asymptotic and resampling strategies explored the mediating role of PsyCap in the relationship between WFC and depressive symptoms. Hierarchical linear regression analyses were performed to explore the moderating role of PsyCap. Both WFC and family-work conflict (FWC) were positively related with depressive symptoms. PsyCap positively moderated the relationship of WFC with depressive symptoms. Self-efficacy and hope positively moderated the relationship of WFC with depressive symptoms. PsyCap partially mediated the relationship of FWC with depressive symptoms. Hope and optimism partially mediated the relationship of FWC with depressive symptoms. Work-family conflict, as the risk factor of depressive symptoms, can increase nurses' depressive symptoms, and PsyCap is a positive resource to combat nurses' depressive symptoms. PsyCap can aggravate the effects of WFC on depressive symptoms and FWC can impact PsyCap to increase nurses' depressive symptoms.

  15. Adenomatous hyperplasia of the rete testis: A rare intrascrotal lesion managed with limited testicular excision

    Directory of Open Access Journals (Sweden)

    Francesco Catanzariti

    2016-10-01

    Full Text Available Introduction: Testicular cancer is one of the most frequent in young men and its incidence is increasing in recent years because of incidental finding during routine ultrasound exams. Adenomatous hyperplasia of the rete testis is one of the benign and rare pathological types incidentally detected and very few cases are described in the literature. Case report: A 40 years old man come to our attention for a balanoposthitis without testicular pain. During andrological examination we performed palpation of the testes and we noticed a palpable nodule of hard consistency in the left testicle. We then performed an ultrasound exam of the testis which highlighted the presence of an intra-didymus neoformation with diameters of 1.2 x 1.6 cm and with the presence of cysts inside. We also performed blood tests to check tumor markers alpha fetoprotein, beta hCG and LDH which resulted inside the normal range. We then conducted a chest and abdomen CT scan that showed no pathological elements. Therefore, as we suspected that this tumor was benign, we performed an enucleation of the neoplasm. The definitive histological examination revealed the presence of dilated ducts lined with epithelial cubic-columnar cells with clear cytoplasm rich in glycogen and the pathologist so concluded that the tumor could be classified as adenomatous hyperplasia of the rete testis. At three months of follow up, the patient doesn’t have any recurrent lesion to either testicles. Discussion: Adenomatous hyperplasia of the rete testis is a very rare intrascrotal lesion. This histological type is the most frequent between benign lesion of the ovary, but few works in literature reported this histological type in the male gonad and, in most of these works, authors described these lesion at epididymis. Conclusion: We believe that a conservative approach must be considered mandatory in case of testicular lesions 1.5 cm in diameter. A radical approach might have alterate fertility of the

  16. Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss

    Institute of Scientific and Technical Information of China (English)

    Jianzhong Li; Dongyi Han; Huijun Yuan; Jing Cheng; Yanping Lu; Yu Lu; Aiting Chen; Yi Sun; Dongyang Kang; Xin Zhang; Pu Dai

    2010-01-01

    We present the clinical and genetic findings for a Chinese family with X-linked non-syndromic hearing loss in which the affected males showed congenital profound sensorineural hearing impairment. In two affected brothers, the computer tomography of temporal bone showed bilateral dilation of the internal auditory canal with fistulous communication between the lateral canal and the basal cochlear turn, which is consistent with the typical DFNX2 phenotype. A missense mutation (c.647G→A) in the POU3F4 gene caused a substitution from glycine to glutamic acid at position 216 (p.G216E), and this mutation was found to consistently cosegregate with the deafness phenotype in the family. The mutation resulted in the loss of function of the POU3F4 by decreasing the affinity between the protein and DNA, as shown in silico by the structural analysis. Prenatal diagnosis of pregnant proband of this family revealed the C.647G→A mutation in DNA extracted from the amniotic fluid surrounding the fetus. The appropriate use of genetic testing and prenatal diagnosis plays a key role in reducing the recurrence of genetic defects in high-risk families.

  17. Analysis on Chinese Ancient Family and Its Legal System%试论中国古代家庭及其法律制度

    Institute of Scientific and Technical Information of China (English)

    冯世才; 白丽云

    2014-01-01

    In Chinese ancient society ,“home”was a small community which was organized according to certain ethi-cal rules.Family members must obey the principle of “pecking order according to social status and age”.The con-cepts of home,family,and household in ancient China are certain distinct .Among the family members,the eleder have the parent rights and property rights ,thus,resulting in revenge,toleration and concealment,cohabitation with common property and other family legal system .%在中国古代社会里,“家”乃是根据一定的伦理规则组织起来的小社会,在家庭内部的秩序必须遵循“尊卑有序,长幼有别”的原则。中国古代家与家族或户的概念是有一定区别的,家庭内部成员之间有家长权、财产权等权利分配,从而产生了复仇、容隐、同居共产等家庭法律制度。

  18. Selective targeting of mutant adenomatous polyposis coli (APC) in colorectal cancer.

    Science.gov (United States)

    Zhang, Lu; Theodoropoulos, Panayotis C; Eskiocak, Ugur; Wang, Wentian; Moon, Young-Ah; Posner, Bruce; Williams, Noelle S; Wright, Woodring E; Kim, Sang Bum; Nijhawan, Deepak; De Brabander, Jef K; Shay, Jerry W

    2016-10-19

    Mutations in the adenomatous polyposis coli (APC) gene are common in colorectal cancer (CRC), and more than 90% of those mutations generate stable truncated gene products. We describe a chemical screen using normal human colonic epithelial cells (HCECs) and a series of oncogenically progressed HCECs containing a truncated APC protein. With this screen, we identified a small molecule, TASIN-1 (truncated APC selective inhibitor-1), that specifically kills cells with APC truncations but spares normal and cancer cells with wild-type APC. TASIN-1 exerts its cytotoxic effects through inhibition of cholesterol biosynthesis. In vivo administration of TASIN-1 inhibits tumor growth of CRC cells with truncated APC but not APC wild-type CRC cells in xenograft models and in a genetically engineered CRC mouse model with minimal toxicity. TASIN-1 represents a potential therapeutic strategy for prevention and intervention in CRC with mutant APC.

  19. Representing Divorce, Reforming Interiority: Narratives of Gender, Class and Family in Post-Reform Chinese Literature and Culture

    Science.gov (United States)

    Xiao, Hui

    2009-01-01

    This project stands at the juncture of modern Chinese literature, post-socialist studies, cultural history of divorce, and critical studies about global middle-class cultures. Employing analytical tools mainly from literary studies, cultural studies and feminist theories, I examine stories, novels, films and TV dramas about divorce produced…

  20. Histological study of PIVKA-II expression in hepatocellular carcinoma and adenomatous hyperplasia.

    Science.gov (United States)

    Miskad, U A; Yano, Y; Nakaji, M; Kishi, S; Itoh, H; Kim, S R; Ku, Y; Kuroda, Y; Hayashi, Y

    2001-12-01

    Although serum concentration of protein induced vitamin K absence or antagonist II (PIVKA-II) has been widely used for diagnosing hepatocellular carcinoma (HCC), little information is available concerning tissue PIVKA-II as an immunohistochemical marker for liver histology. In this study, we examined the expression of PIVKA-II in precancerous nodules (adenomatous hyperplasia) and various differentiation grades of HCC by immunohistochemical study using the monoclonal anti-PIVKA-II antibody (MU-3). We examined the relationship between tissue PIVKA-II staining and serum PIVKA-II level, tumor histology and tumor size. PIVKA-II was mainly detected in the cytoplasm of the HCC cells. The positive rates of PIVKA-II were as follows: adenomatous hyperplasia (AH), 0% (0/9); well-differentiated HCC, 65% (15/23); moderately differentiated HCC, 85% (22/26); poorly differentiated HCC, 54% (7/13). The expression of tissue PIVKA-II staining in moderately differentiated HCC was significantly higher than in well- or poorly differentiated HCC, whereas the serum PIVKA-II level in poorly differentiated HCC was higher than well- or moderately differentiated HCC. There was no relationship between the expression of PIVKA-II in cancer tissues and serum levels of PIVKA-II. Immunohistochemical studies revealed that PIVKA-II was expressed even in small-sized or well-differentiated HCC cells, but expression was not detected in AH. It was concluded that PIVKA-II is a useful immunohistochemical marker, even in small-sized or well-differentiated HCC.

  1. Predictive gene signatures: molecular markers distinguishing colon adenomatous polyp and carcinoma.

    Science.gov (United States)

    Drew, Janice E; Farquharson, Andrew J; Mayer, Claus Dieter; Vase, Hollie F; Coates, Philip J; Steele, Robert J; Carey, Francis A

    2014-01-01

    Cancers exhibit abnormal molecular signatures associated with disease initiation and progression. Molecular signatures could improve cancer screening, detection, drug development and selection of appropriate drug therapies for individual patients. Typically only very small amounts of tissue are available from patients for analysis and biopsy samples exhibit broad heterogeneity that cannot be captured using a single marker. This report details application of an in-house custom designed GenomeLab System multiplex gene expression assay, the hCellMarkerPlex, to assess predictive gene signatures of normal, adenomatous polyp and carcinoma colon tissue using archived tissue bank material. The hCellMarkerPlex incorporates twenty-one gene markers: epithelial (EZR, KRT18, NOX1, SLC9A2), proliferation (PCNA, CCND1, MS4A12), differentiation (B4GANLT2, CDX1, CDX2), apoptotic (CASP3, NOX1, NTN1), fibroblast (FSP1, COL1A1), structural (ACTG2, CNN1, DES), gene transcription (HDAC1), stem cell (LGR5), endothelial (VWF) and mucin production (MUC2). Gene signatures distinguished normal, adenomatous polyp and carcinoma. Individual gene targets significantly contributing to molecular tissue types, classifier genes, were further characterised using real-time PCR, in-situ hybridisation and immunohistochemistry revealing aberrant epithelial expression of MS4A12, LGR5 CDX2, NOX1 and SLC9A2 prior to development of carcinoma. Identified gene signatures identify aberrant epithelial expression of genes prior to cancer development using in-house custom designed gene expression multiplex assays. This approach may be used to assist in objective classification of disease initiation, staging, progression and therapeutic responses using biopsy material.

  2. Predictive gene signatures: molecular markers distinguishing colon adenomatous polyp and carcinoma.

    Directory of Open Access Journals (Sweden)

    Janice E Drew

    Full Text Available Cancers exhibit abnormal molecular signatures associated with disease initiation and progression. Molecular signatures could improve cancer screening, detection, drug development and selection of appropriate drug therapies for individual patients. Typically only very small amounts of tissue are available from patients for analysis and biopsy samples exhibit broad heterogeneity that cannot be captured using a single marker. This report details application of an in-house custom designed GenomeLab System multiplex gene expression assay, the hCellMarkerPlex, to assess predictive gene signatures of normal, adenomatous polyp and carcinoma colon tissue using archived tissue bank material. The hCellMarkerPlex incorporates twenty-one gene markers: epithelial (EZR, KRT18, NOX1, SLC9A2, proliferation (PCNA, CCND1, MS4A12, differentiation (B4GANLT2, CDX1, CDX2, apoptotic (CASP3, NOX1, NTN1, fibroblast (FSP1, COL1A1, structural (ACTG2, CNN1, DES, gene transcription (HDAC1, stem cell (LGR5, endothelial (VWF and mucin production (MUC2. Gene signatures distinguished normal, adenomatous polyp and carcinoma. Individual gene targets significantly contributing to molecular tissue types, classifier genes, were further characterised using real-time PCR, in-situ hybridisation and immunohistochemistry revealing aberrant epithelial expression of MS4A12, LGR5 CDX2, NOX1 and SLC9A2 prior to development of carcinoma. Identified gene signatures identify aberrant epithelial expression of genes prior to cancer development using in-house custom designed gene expression multiplex assays. This approach may be used to assist in objective classification of disease initiation, staging, progression and therapeutic responses using biopsy material.

  3. Is mitochondrial tRNA(phe variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?

    Directory of Open Access Journals (Sweden)

    A-Mei Zhang

    Full Text Available Mitochondrial transfer RNA (mt-tRNA mutations have been reported to be associated with a variety of diseases. In a previous paper that studied the mtDNA background effect on clinical expression of Leber's hereditary optic neuropathy (LHON in 182 Chinese families with m.11778G>A, we found a strikingly high frequency (7/182 of m.593T>C in the mitochondrially encoded tRNA phenylalanine (MT-TF gene in unrelated LHON patients. To determine the potential role of m.593T>C in LHON, we compared the frequency of this variant in 479 LHON patients with m.11778G>A, 843 patients with clinical features of LHON but without the three known primary mutations, and 2374 Han Chinese from the general populations. The frequency of m.593T>C was higher in LHON patients (14/479 than in suspected LHON subjects (12/843 or in general controls (49/2374, but the difference was not statistically significant. The overall penetrance of LHON in families with both m.11778G>A and m.593T>C (44.6% was also substantially higher than that of families with only m.11778G>A (32.9% (P = 0.083. Secondary structure prediction of the MT-TF gene with the wild type or m.593T>C showed that this nucleotide change decreases the free energy. Electrophoretic mobility of the MT-TF genes with the wild type or m.593T>C transcribed in vitro further confirmed the change of secondary structure in the presence of this variant. Although our results could suggest a modest synergistic effect of variant m.593T>C on the LHON causing mutation m.11778G>A, the lack of statistical significance probably due to the relatively small sample size analyzed, makes necessary more studies to confirm this effect.

  4. Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?

    Science.gov (United States)

    Zhang, A-Mei; Bandelt, Hans-Jürgen; Jia, Xiaoyun; Zhang, Wen; Li, Shiqiang; Yu, Dandan; Wang, Dong; Zhuang, Xin-Ying; Zhang, Qingjiong; Yao, Yong-Gang

    2011-01-01

    Mitochondrial transfer RNA (mt-tRNA) mutations have been reported to be associated with a variety of diseases. In a previous paper that studied the mtDNA background effect on clinical expression of Leber's hereditary optic neuropathy (LHON) in 182 Chinese families with m.11778G>A, we found a strikingly high frequency (7/182) of m.593T>C in the mitochondrially encoded tRNA phenylalanine (MT-TF) gene in unrelated LHON patients. To determine the potential role of m.593T>C in LHON, we compared the frequency of this variant in 479 LHON patients with m.11778G>A, 843 patients with clinical features of LHON but without the three known primary mutations, and 2374 Han Chinese from the general populations. The frequency of m.593T>C was higher in LHON patients (14/479) than in suspected LHON subjects (12/843) or in general controls (49/2374), but the difference was not statistically significant. The overall penetrance of LHON in families with both m.11778G>A and m.593T>C (44.6%) was also substantially higher than that of families with only m.11778G>A (32.9%) (P = 0.083). Secondary structure prediction of the MT-TF gene with the wild type or m.593T>C showed that this nucleotide change decreases the free energy. Electrophoretic mobility of the MT-TF genes with the wild type or m.593T>C transcribed in vitro further confirmed the change of secondary structure in the presence of this variant. Although our results could suggest a modest synergistic effect of variant m.593T>C on the LHON causing mutation m.11778G>A, the lack of statistical significance probably due to the relatively small sample size analyzed, makes necessary more studies to confirm this effect.

  5. 中国特色的和谐婚姻家庭建设道路%On Construction Road for Harmonious Marriage and Family of Chinese Characteristics

    Institute of Scientific and Technical Information of China (English)

    汤亮

    2011-01-01

    家庭是社会的重要组成部分,和谐社会的构建,离不开家庭这个社会的基本单位。因此,如何走中国特色的和谐婚姻家庭建设道路便成了现阶段值得我们认真探讨的重要问题之一。从构建和谐婚姻家庭的角度研究可知,离婚率的攀升、教育子女的方式不当、街坊邻里关系疏远及有缺陷的生活方式等都是影响婚姻家庭和谐的因素;促进经济发展、保护妇女儿童的合法权益、减少和预防家庭暴力、促进家庭邻里关系的和谐及加强对未成年人的教育等都是中国特色的和谐婚姻家庭的建设道路。%The family is an important part of society,and to build harmonious society,the family can not do without the basic unit of society.Therefore,how to take the Chinese characteristics of the road of building a harmonious marriage and family at this stage has become an important issues which worthy of our serious discussion.In this paper,from building a harmonious marriage and family perspective,we discusses the importance of building a harmonious marriage and family,and point out that family harmony is the basis for a harmonious society as well as an important component of a harmonious society.The rising divorce rate,the way the education of children seriously wrong,estranged neighbors and the factors of faulty lifestyle that affect marriage and family harmony.Put forward by promoting economic development,protection of legitimate rights and interests of women and children,reduce and prevention domestic violence and promoting harmonious relations between family neighborhood and strengthen the education of children,etc.for build a harmonious family.

  6. Thermal coagulation-induced changes of the optical properties of normal and adenomatous human colon tissues in vitro in the spectral range 400-1100 nm

    Energy Technology Data Exchange (ETDEWEB)

    Ao Huilan; Xing Da; Wei Huajiang; Gu Huaimin [MOE Key Laboratory of Laser Life Science and Institute of Laser Life Science, ina Normal University, Guangzhou 510631 (China); Wu Guoyong; Lu Jianjun [Department of Surgery, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou 510080 (China)], E-mail: xingda@scnu.edu.cn

    2008-04-21

    The absorption coefficients, the reduced scattering coefficients and the optical penetration depths for native and coagulated human normal and adenomatous colon tissues in vitro were determined over the range of 400-1100 nm using a spectrophotometer with an internal integrating sphere system, and the inverse adding-doubling method was applied to calculate the tissue optical properties from diffuse reflectance and total transmittance measurements. The experimental results showed that in the range of 400-1100 nm there were larger absorption coefficients (P < 0.01) and smaller reduced scattering coefficients (P < 0.01) for adenomatous colon tissues than for normal colon tissues, and there were smaller optical penetration depths for adenomatous colon tissues than for normal colon tissues, especially in the near-infrared wavelength. Thermal coagulation induced significant increase of the absorption coefficients and reduced scattering coefficients for the normal and adenomatous colon tissues, and significantly reduced decrease of the optical penetration depths for the normal and adenomatous colon tissues. The smaller optical penetration depth for coagulated adenomatous colon tissues is a disadvantage for laser-induced thermotherapy (LITT) and photodynamic therapy (PDT). It is necessary to adjust the application parameters of lasers to achieve optimal therapy.

  7. Presence of mutation m.14484T>C in a Chinese family with maternally inherited essential hypertension but no expression of LHON.

    Science.gov (United States)

    Guo, Hao; Zhuang, Xin-Ying; Zhang, A-Mei; Zhang, Wen; Yuan, Yong; Guo, Li; Yu, Dandan; Liu, Juan; Yang, Da-Kuan; Yao, Yong-Gang

    2012-10-01

    Essential hypertension (EH, MIM 145500) is the most common cardiovascular disease and affects one-quarter of the world's adult population. Families with EH in a mode of maternal transmission have been occasionally observed in clinical settings and suggested an involvement of mitochondrial DNA (mtDNA) mutation. We aimed to characterize the role of mtDNA mutation in EH. We reported a large Han Chinese family with a maternally inherited EH and an extraordinarily high percentage of sudden death mainly in affected females. Analysis of the entire mtDNA genome of the proband identified a homoplasmic primary mutation m.14484T>C for Leber's hereditary optic neuropathy (LHON), along with several variants indicating haplogroup F1 status. Intriguingly, no maternal member in this family had LHON though they all harbored m.14484T>C. The arterial stiffness of the members carrying mutation m.14484T>C was significantly increased than that of non-maternal members without this mutation. No environmental factor (including age, sex, smoking, diabetes, hyperlipidemia) was correlated with the decreased aortic elastic properties observed in affected members. Mitochondrial respiration rate and membrane potential (ΔΨ(m)) were significantly reduced in lymphoblastoid cell lines established from affected members carrying m.14484T>C when compared to control cell lines (PC causes EH under certain circumstance. This study provides a paradigm for diverse phenotypes of the primary LHON mutation and suggests for the necessity of routine cardiac evaluation in patients with the primary LHON mutation.

  8. Bioinformatic Analysis of GIF Protein Family in Chinese Cabbage%大白菜GIF蛋白家族的生物信息学分析

    Institute of Scientific and Technical Information of China (English)

    王凤德; 李利斌; 李化银; 刘立峰; 高建伟

    2012-01-01

    GIF( GRF - interacting factor)家族是一类含有SNH和QG结构域的蛋白质,可与GRF( Growth regulating factor)转录因子蛋白相结合形成功能复合体,通过促进和维持细胞的分裂能力参与调控植物叶器官的发育.本研究系统鉴定了5个大白菜的GIF基因,并对这些基因编码的蛋白质序列进行了保守性和系统进化分析,最后对BrGIF1基因的表达进行了分析.结果表明,所有的大白菜和拟南芥GIF蛋白家族成员都具有高度保守的SNH和QG结构域.在进化上,GIF蛋白家族可分为两个不同的亚家族,并且这种特征在大白菜和拟南芥分离之前就已经形成.在表达模式上,BrGIF1基因在具有较大叶球的白菜自交系以及具有较强细胞分裂能力的组织中的转录表达水平较高.另外,BrGIF1基因的表达受到NAA的诱导和ABA的抑制.这些结果表明大白菜GIF蛋白可能具有和拟南芥GIF蛋白相似的生物学功能,在调控植物器官发育中具有重要作用.%GIF ( GRF - interacting factor) protein family is one kind of transcription coactivator which features the existence of SNH and QG domains. The members of this family could form a functional complex with GRF and act synergistically in regulating the development of leaves through the promotion and/or maintenance of cell proliferation activity in leaf primordia. In this study, five GIF genes were identified from Chinese cabbage by bioinformatics analysis. The conserved sequences of these proteins were analyzed and a polygenetic tree was constructed based on the corresponding GIF proteins from Chinese cabbage and Arabidopsis thaliana. The expression of these genes was analyzed, too. The results showed that all GIF proteins had the highly conservative SNH and QG domains and could be divided into two sub - family groups, which might have existed before the split of Chinese cabbage and Arabidopsis thalina. The expression level of BrGIF1 was higher not only in the inbred lines

  9. The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family.

    Science.gov (United States)

    Li, Ronghua; Qu, Jia; Zhou, Xiangtian; Tong, Yi; Hu, Yongwu; Qian, Yaping; Lu, Fan; Mo, Jun Qin; West, Constance E; Guan, Min-Xin

    2006-07-01

    We report here the characterization of a three-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON). This Chinese family exhibited high penetrance and expressivity of visual impairment. The average age-of-onset was 19 years in this family. All male and 33% female matrilineal relatives in this Chinese family developed visual loss with a wide range of severity, ranging from blindness to normal vision. Sequence analysis of the complete mitochondrial DNA in this pedigree revealed the presence of the ND4 G11778A mutation and 40 other variants, belonging to the Asian haplogroup D4. The G11778A mutation is present at homoplasmy in matrilineal relatives of this Chinese family. Of other variants, the homoplasmic A15951G mutation is of special interest as it is located adjacent to 3' end, at conventional position 71 of tRNA(Thr). The adenine (A71) at this position of tRNA(Thr), highly conserved from bacteria to human mitochondria, has been implicated to be important for tRNA identity and pre-tRNA processing. In fact, the significant reduction of the steady-state levels in tRNA(Thr) was observed in cells carrying both the A15951G and G11778A mutations but not cells carrying only G11778A mutation. Thus, the A15951G mutation most probably leads to a failure in mitochondrial tRNA metabolism, worsening the mitochondrial dysfunction associated with the primary G11778A mutation. These imply that the tRNA(Thr) A15951G mutation may have a potential modifier role in increasing the penetrance and expressivity of the primary LHON-associated G11778A mutation in this Chinese family.

  10. Familial young-onset diabetes, pre-diabetes and cardiovascular disease are associated with genetic variants of DACH1 in Chinese.

    Directory of Open Access Journals (Sweden)

    Ronald Ching Wan Ma

    Full Text Available In Asia, young-onset type 2 diabetes (YOD is characterized by obesity and increased risk for cardiovascular disease (CVD. In a genome-wide association study (GWAS of 99 Chinese obese subjects with familial YOD diagnosed before 40-year-old and 101 controls, the T allele of rs1408888 in intron 1 of DACH1(Dachshund homolog 1 was associated with an odds ratio (OR of 2.49(95% confidence intervals:1.57-3.96, P = 8.4 × 10(-5. Amongst these subjects, we found reduced expression of DACH1 in peripheral blood mononuclear cells (PBMC from 63 cases compared to 65 controls (P = 0.02. In a random cohort of 1468 cases and 1485 controls, amongst top 19 SNPs from GWAS, rs1408888 was associated with type 2 diabetes with a global P value of 0.0176 and confirmation in a multiethnic Asian case-control cohort (7370/7802 with an OR of 1.07(1.02-1.12, P(meta  = 0.012. In 599 Chinese non-diabetic subjects, rs1408888 was linearly associated with systolic blood pressure and insulin resistance. In a case-control cohort (n = 953/953, rs1408888 was associated with an OR of 1.54(1.07-2.22, P = 0.019 for CVD in type 2 diabetes. In an autopsy series of 173 non-diabetic cases, TT genotype of rs1408888 was associated with an OR of 3.31(1.19-9.19, P = 0.0214 and 3.27(1.25-11.07, P = 0.0184 for coronary heart disease (CHD and coronary arteriosclerosis. Bioinformatics analysis revealed that rs1408888 lies within regulatory elements of DACH1 implicated in islet development and insulin secretion. The T allele of rs1408888 of DACH1 was associated with YOD, prediabetes and CVD in Chinese.

  11. Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.

    Science.gov (United States)

    Zheng, Wen; Chen, Han; Deng, Xiong; Yuan, Lamei; Yang, Yan; Song, Zhi; Yang, Zhijian; Wu, Yuan; Deng, Hao

    2016-10-01

    Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of genetic myopathies characterized by progressive proximal pelvic and/or shoulder girdle muscle weakness, with the onset ages ranging from early childhood to late adulthood. The identification of these dystrophies through genetic testing will not only inform long-term prognosis but will also assist in directing care more efficiently, including more frequent cardiorespiratory monitoring and prophylactic treatments. The aim of this study was to identify the responsible gene in a five-generation Chinese Han pedigree with autosomal recessive LGMD. Exome sequencing was conducted and a novel mutation c.107788T>C (p.W35930R) in the titin gene (TTN) was identified. The mutation co-segregated with the disorder in the family and was absent in normal controls. Our discovery broadens the mutation spectrum of the TTN gene associated with LGMD2J.

  12. Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH

    Directory of Open Access Journals (Sweden)

    Xiaodong Gu

    2016-01-01

    Full Text Available DFNA9 is a late-onset, progressive, autosomal dominantly inherited sensorineural hearing loss with vestibular dysfunction, which is caused by mutations in the COCH (coagulation factor C homology gene. In this study, we investigated a Chinese family segregating autosomal dominant nonsyndromic sensorineural hearing loss. We identified a missense mutation c.T275A p.V92D in the LCCL domain of COCH cosegregating with the disease and absent in 100 normal hearing controls. This mutation leads to substitution of the hydrophobic valine to an acidic amino acid aspartic acid. Our data enriched the mutation spectrum of DFNA9 and implied the importance for mutation screening of COCH in age related hearing loss with vestibular dysfunctions.

  13. Investigation of a Possible Role for the Histidine Decarboxylase Gene in Tourette Syndrome in the Chinese Han Population: A Family-Based Study

    Science.gov (United States)

    Liu, Meixin; Xu, Longqiang; Li, Qiang; Zhang, Ru; Zhang, Xin; Liu, Shiguo

    2016-01-01

    Tourette syndrome (TS) is a polygenic neuropsychiatric disease. Previous studies have indicated that dysregulation in the histaminergic system may play a crucial role in disease onset. In this study, we investigated the role of the histidine decarboxylase gene (HDC) in TS susceptibility in the Chinese Han population. After genotyping 241 TS nuclear families trios, we analyzed three tag HDC single nucleotide polymorphisms (rs854150, rs854151, and rs854157) in a family-based study using the transmission disequilibrium test (TDT) and haplotype relative risk (HRR). TDT showed no over-transmission in these SNPs across the HDC region (for rs854150: χ2 = 0.472, P = 0.537, OR = 1.097, 95%CI = 0.738–1.630; for rs854151: χ2 = 0.043, P = 0.889, OR = 1.145, 95%CI = 0.767–1.709; for rs854157:χ2 = 0.984, P = 0.367, OR = 1.020, 95%CI = 0.508–2.049). HRR also showed the same tendency (for rs854150: χ2 = 0.211, P = 0.646, OR = 1.088, 95%CI = 0.759–1.559; for rs854151: χ2 = 0.134, P = 0.714, OR = 0.935, 95%CI = 0.653–1.339; for rs854157:χ2 = 0.841, P = 0.359, OR = 1.206, 95%CI = 0.808–1.799). Additionally, the haplotype-based haplotype relative risk showed a negative association. Although these findings indicate an unlikely association between HDC and TS in the Chinese Han population, a potential role for HDC cannot be ruled out in TS etiology. Future research should investigate this more thoroughly using different populations and larger samples. PMID:27529419

  14. How Chinese Legal Practice Deal with the Family%法律实践如何面对“家庭”?

    Institute of Scientific and Technical Information of China (English)

    方乐

    2011-01-01

    On the issues of family ethics and affection,the transitional Chinese legal practice adopt some active and scattered measures.The active and confused logic of legal practice reflects not only the complexity of Chinese family problem,but also lacking a uni%转型中国的法律实践在处理有关家庭伦理与亲情的问题上,采用了一些积极而又零散的做法。这种能动而混乱的实践逻辑,既表明转型中国家庭问题的复杂性,也反映出转型中国的法律实践还缺少一个统一的家庭法哲学来指导。实际上,不仅家庭伦理和道德是法律伦理与精神的来源,而且家庭关系与家庭秩序也是社会关系和秩序的根本;更重要的,家庭能力还是国家整体能力的基石。因此,在社会转型、全球化以及大国崛起的整体背景下,当下中国的法律实践,就不仅必须要为中国家庭的战略地位进行重新定位,而且也必须要为家庭功能的重塑与家庭的重建提供各方面的支

  15. The Role of Depressive Symptoms, Family Invalidation and Behavioral Impulsivity in the Occurrence and Repetition of Non-Suicidal Self-Injury in Chinese Adolescents: A 2-Year Follow-Up Study

    Science.gov (United States)

    You, Jianing; Leung, Freedom

    2012-01-01

    This study used zero-inflated poisson regression analysis to examine the role of depressive symptoms, family invalidation, and behavioral impulsivity in the occurrence and repetition of non-suicidal self-injury among Chinese community adolescents over a 2-year period. Participants, 4782 high school students, were assessed twice during the…

  16. Importance of the surrounding colonic mucosa in distinguishing between hyperplastic and adenomatous polyps during acetic acid chromoendoscopy

    Institute of Scientific and Technical Information of China (English)

    Jeong Hwan Kim; Sun-Young Lee; Byung Kook Kim; Won Hyeok Choe; So Young Kwon; In-Kyung Sung; Hyung-Seok Park; Choon-Jo Jin

    2008-01-01

    AIM: To examine the characteristics of colonic polyps, where it is difficult to distinguish adenomatous polyps from hyperplastic polyps, with the aid of acetic acid chromoendoscopy.METHODS: Acetic acid spray was applied to colonic polyps smaller than 10 mm before complete excision. Endoscopic images were taken before and 15-30 s after the acetic acid spray. Both pre- and post-sprayed images were shown to 16 examiners, who were asked to interpret the lesions as either hyperplastic or adenomatous polyps. Regression analysis was performed to determine which factors were most likely related to diagnostic accuracy.RESULTS: In 50 cases tested by the 16 examiners, the overall accuracy was 62.4% (499/800). Regression analysis demonstrated that surrounding colonic mucosa was the only factor that was significantly related to accuracy in discriminating adenomatous from hyperplastic polyps (P < 0.001). Accuracy was higher for polyps with linear surrounding colonic mucosa than for those with nodular surrounding colonic mucosa (P < 0.001), but was not related to the shape, location, or size of the polyp.CONCLUSION: The accuracy of predicting histology is significantly related to the pattern of colonic mucosa surrounding the polyp. Making a histological diagnosis of colon polyps merely by acetic acid spray is helpful for colon polyps with linear, regularly patterned surrounding colonic mucosa, and less so for those with nodular, irregularly patterned surrounding colonic mucosa.

  17. A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type Ⅱ

    Institute of Scientific and Technical Information of China (English)

    Xukun Yan; Tianyu Zhang; Zhengmin Wang; Yi Jiang; Yan Chen; Hongyan Wang; Duan Ma; Lei Wang; Huawei Li

    2011-01-01

    Waardenburg syndrome type Ⅱ (WS2) is associated with syndromic deafness.A subset of WS2,WS2A,accounting for approximately 15% of patients,is attributed to mutations in the microphthalmia-associated transcription factor (MITF) gene.We examined the genetic basis of WS2 in a large Chinese family.All 9 exons of the MITF gene,the single coding exon (exon 2) of the most common hereditary deafness gene GJB2 and the mitochondrial DNA (mtDNA) 12S rRNA were sequenced.A novel heterozygous mutation c.[742_743delAAinsT;746_747delCA]in exon 8 of the MITF gene co-segregates with WS2 in the family.The MITF mutation results in a premature termination codon and a truncated MITF protein with only 247 of the 419 wild type amino acids.The deaf proband had this MITF gene heterozygous mutation as well as a c.[ 109G>A]+[235delC]compound heterozygous pathogenic mutation in the GJB2 gene.No pathogenic mutation was found in mtDNA 12S rRNA in this family.Thus,a novel compound heterozygous mutation,c.[742_743delAAinsT;746_747delCA]in MITF exon 8 was the key genetic reason for WS2 in this family,and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband.

  18. Aspirin augments the expression of Adenomatous Polyposis Coli protein by suppression of IKKβ

    Energy Technology Data Exchange (ETDEWEB)

    Ashida, Noboru, E-mail: nashida@kuhp.kyoto-u.ac.jp [Department of Clinical Innovative Medicine, Institute for Advancement of Clinical and Translational Science, Faculty of Medicine, Kyoto University, Kyoto (Japan); Kishihata, Masako [Department of Clinical Innovative Medicine, Institute for Advancement of Clinical and Translational Science, Faculty of Medicine, Kyoto University, Kyoto (Japan); Tien, Dat Nguyen [Department of Clinical Innovative Medicine, Institute for Advancement of Clinical and Translational Science, Faculty of Medicine, Kyoto University, Kyoto (Japan); Department of Biomolecular Engineering, Kyoto Institute of Technology, Kyoto (Japan); Kamei, Kaeko [Department of Biomolecular Engineering, Kyoto Institute of Technology, Kyoto (Japan); Kimura, Takeshi [Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto (Japan); Yokode, Masayuki [Department of Clinical Innovative Medicine, Institute for Advancement of Clinical and Translational Science, Faculty of Medicine, Kyoto University, Kyoto (Japan)

    2014-04-04

    Highlights: • Clinical studies revealed aspirin inhibits cancer, but the mechanism is not known. • Adenomatous Polyposis Coli (APC) is a well-known tumor-suppressing gene. • We found aspirin up-regulates the protein of APC. • Aspirin suppressed the expression of IKKβ, an essential kinase in NFκB activation. • The deletion of IKKβ significantly increases the expression of APC protein. - Abstract: Aspirin has been widely used as analgesic, antipyretic and anti-inflammatory medicine for long. In addition to these traditional effects, clinical studies suggest that aspirin can protect against cancer, but its mechanism has not been explored. To unveil it, we identified the proteins up- or down-regulated after incubation with aspirin by using proteomics analysis with Nano-flow LC/MALDI-TOF system. Interestingly, the analysis identified the protein of Adenomatous Polyposis Coli (APC) as one of the most up-regulated protein. APC regulates cell proliferation or angiogenesis, and is widely known as a tumor-suppressing gene which can cause colorectal cancer when it is mutated. Western blots confirmed this result, and real-time PCR indicated it is transcriptionally regulated. We further tried to elucidate the molecular mechanism with focusing on IKKβ. IKKβ is the essential kinase in activation of nuclear factor-kappa B (NF-κB), major transcriptional factors that regulate genes responsible for inflammation or immune response. Previous reports indicated that aspirin specifically inhibits IKKβ activity, and constitutively active form of IKKβ accelerates APC loss. We found that aspirin suppressed the expression of IKKβ, and the deletion of IKKβ by siRNA increases the expression of APC in HEK294 cells. Finally, we observed similar effects of aspirin in human umbilical vein endothelial cells. Taken together, these results reveal that aspirin up-regulates the expression of APC via the suppression of IKKβ. This can be a mechanism how aspirin prevents cancer at

  19. 先天性白内障一家系的致病基因研究%Gene mutation analysis of a Chinese family with congenital cataract

    Institute of Scientific and Technical Information of China (English)

    郑青青; 李文伟; 沈婷; 洪朝阳

    2015-01-01

    Objective To identify the pathogenic gene of congenital cataract in a Chinese family. Methods In a three- generation Chinese family 4 members were affected by congenital cataract in both eyes. Ten individuals from this family underwent ophthalmologic and physical examination in Zhejiang Provincial People's Hospital. The DNA was extracted from pe-riphery blood samples and amplified by PCR. The PCR products were sequenced and analyzed to detect mutations of 18 autoso-mal dominant congenital contact- related genes (CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYGC, CRYGD, CRYGS, GJA3, GJA8, MIP, BFSP, HSF4, PITX3, EPHA2 and PAX6). Results The congenital cataract in this family is pulverulent type. A C→T mutation at 6 base in the first exon of CRYAA gene was detected, which was coding the same amino acid (asparaginic acid). Al the patients in this family had this mutation, while the mutation was not detected in normal family mem-bers. Conclusion The study identifies a mutation in CRYAA, which may contribute to the pathogenesis of congenital cataract in this family.%目的:对一个来自浙江省杭州地区的三代先天性白内障家系进行常染色体显性遗传基因的突变分析,以寻找其可能的致病基因及突变位点。方法该家系共10例成员,其中包括4例患者。10例家系成员在浙江省人民医院眼科中心接受眼科专科检查及全身检查,以排除存在白内障以外的眼部及全身疾患。10例家系成员各抽取外周血5ml,提取基因组DNA。针对国内外文献报道的与常染色体显性遗传先天性白内障相关的18个基因(CRYAA、CRYAB、CRYBA1、CRYBA2、CRYBA4、CRYBB1、CRYBB2、CRYGC、CRYGD、CRYGS、GJA3、GJA8、MIP、BFSP、HSF4、PITX3、EPHA2、PAX6)设计引物,进行PCR扩增,对扩增产物进行测序和序列分析,了解这10例家系成员的以上基因是否存在相应的序列。结果临床眼科检查显示该家系先天性白内障类型

  20. Non-compaction cardiomyopathy in a 5-generation Chinese family%高致死性心肌致密化不全一家系报道

    Institute of Scientific and Technical Information of China (English)

    丁仲如; 黄国明; 王洪如; 涂晓文; 刘传垠

    2012-01-01

    目的 家族性心肌致密化不全(LVNC)临床极为罕见,本文报道一伴发多种心律失常和多发性猝死家系,以探讨其临床特征及遗传规律.方法 对一伴发多种心律失常和多发性猝死家系进行系统的家系调查,对猝死者进行详细的病史分析,对调查时存活者33人均行彩色超声心动图、心电图和动态心电图检查,2例严重患者行核磁共振成像,并绘制家系图.结果 该家系5代40人中,猝死7例(17.5%,7/40),其中1例系确诊并死于家系调查期间.家系33人参与调查,10例(30.3%,10/33)确诊LVNC.其中3例合并显著性心脏扩大,2例心功能不全,l例合并病态窦房结综合征置入永久性心脏起搏器,1例合并室上性心动过速行射频消融术,3例合并完全性左束支传导阻滞.初步的家系分析发现猝死和LVNC仅发生于女性患者的后代,且除3例幼年后代外几乎全部患病(83.3%,15/18),而男性患者后代无一发病(0/8).女性患者发病年龄较轻,病情明显较男性患者严重.7例猝死患者6例为女性.心脏扩大、心功能不全、阵发性室上性心动过速、严重心律失常均发生于女性患者.结论 本家系为高发病、高致死性、伴复杂心律失常的遗传性心肌致密化不全家系,初步家系分析表明该家系呈母系遗传倾向,推测其发病机制可能与线粒体基因突变有关.%Objective Familial left ventricular noncompaction( LVNC ) is quite rare.We screened for the presence of LVNC and related clinical characteristics in a 5-generation Chinese family.Methods Comprehensive medical history was obtained from 40 members in a 5-generation Chinese family.Systemic clinical investigations including echocardiography (UCG),routine and ambulatory electrocardiogram (ECG),X-rays were performed in 33 family members.Cardiovascular magnetic resonance image (MRI) was carried out in 2 family members.Results Sudden cardiac death (including 1 occurred while following

  1. Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

    Energy Technology Data Exchange (ETDEWEB)

    Wang Huawei [Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223 (China)]|[Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming 650091 (China); Jia Xiaoyun; Ji Yanli [State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060 (China); Kong Qingpeng [State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223 (China); Zhang Qingjiong [State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060 (China)], E-mail: qingjiongzhang@yahoo.com; Yao Yonggang [Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223 (China)]|[State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223 (China)], E-mail: ygyaozh@yahoo.com; Zhang Yaping [Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming 650091 (China)]|[State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223 (China)

    2008-08-25

    The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic mutation that cosegregated with G11778A in these two pedigrees. Our results suggest that the variable penetrance of LHON in the two Chinese families is independent of both their mtDNA haplotype background and a secondary mutation G13708A. As a result, it is likely that unknown nuclear gene involvement and/or other factors contribute to the strikingly different penetrance of LHON.

  2. A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

    Energy Technology Data Exchange (ETDEWEB)

    Xiao Cuiying; Zhang Sizhong; Wang Jun; Qiu Weimin; Chi Leiting; Li Yunqing; Su Zhiguang

    2003-04-09

    Spondyloepiphyseal Dysplasia Tarda (SEDT; MIM 313400) is a rare genetically heterogeneous disorder of vertebral and epiphyseal growth resulting in disproportionally short-trunked short stature, barrel-shaped chest, and dysplasia of the large joints. It is caused by the mutations of SEDL gene. The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA sequencing, a previously unreported deletion of T in exon 5 of SEDL gene (i.e. 293delT) was observed and seven individuals in the family carried the mutation. It results in frameshift and a putative truncated protein with the 97 N-terminal amino acids, and 9 changed amino acids. Therefore, loss of function of the gene could be predicted. However, this mutation has not been detected in 50 age and sex matched unrelated controls.

  3. Evidence for association between Disrupted-in-schizophrenia 1 (DISC1 gene polymorphisms and autism in Chinese Han population: a family-based association study

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    Ruan Yan

    2011-05-01

    Full Text Available Abstract Background Disrupted-in-Schizophrenia 1 (DISC1 gene is one of the most promising candidate genes for major mental disorders. In a previous study, a Finnish group demonstrated that DISC1 polymorphisms were associated with autism and Asperger syndrome. However, the results were not replicated in Korean population. To determine whether DISC1 is associated with autism in Chinese Han population, we performed a family-based association study between DISC1 polymorphisms and autism. Methods We genotyped seven tag single nucleotide polymorphisms (SNPs in DISC1, spanning 338 kb, in 367 autism trios (singleton and their biological parents including 1,101 individuals. Single SNP association and haplotype association analysis were performed using the family-based association test (FBAT and Haploview software. Results We found three SNPs showed significant associations with autism (rs4366301: G > C, Z = 2.872, p = 0.004; rs11585959: T > C, Z = 2.199, p = 0.028; rs6668845: A > G, Z = 2.326, p = 0.02. After the Bonferroni correction, SNP rs4366301, which located in the first intron of DISC1, remained significant. When haplotype were constructed with two-markers, three haplotypes displayed significant association with autism. These results were still significant after using the permutation method to obtain empirical p values. Conclusions Our study provided evidence that the DISC1 may be the susceptibility gene of autism. It suggested DISC1 might play a role in the pathogenesis of autism.

  4. Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.

    Science.gov (United States)

    Cheng, Jing; Zhou, Xueya; Lu, Yu; Chen, Jing; Han, Bing; Zhu, Yuhua; Liu, Liyang; Choy, Kwong-Wai; Han, Dongyi; Sham, Pak C; Zhang, Michael Q; Zhang, Xuegong; Yuan, Huijun

    2014-11-01

    Autosomal dominant types of nonsyndromic hearing loss (ADNSHL) are typically postlingual in onset and progressive. High genetic heterogeneity, late onset age, and possible confounding due to nongenetic factors hinder the timely molecular diagnoses for most patients. In this study, exome sequencing was applied to investigate a large Chinese family segregating ADNSHL in which we initially failed to find strong evidence of linkage to any locus by whole-genome linkage analysis. Two affected family members were selected for sequencing. We identified two novel mutations disrupting known ADNSHL genes and shared by the sequenced samples: c.328C>A in COCH (DFNA9) resulting in a p.Q110K substitution and a deletion c. 2814_2815delAA in MYO6 (DFNA22) causing a frameshift alteration p.R939Tfs*2. The pathogenicity of novel coding variants in ADNSHL genes was carefully evaluated by analysis of co-segregation with phenotype in the pedigree and in light of established genotype-phenotype correlations. The frameshift deletion in MYO6 was confirmed as the causative variant for this pedigree, whereas the missense mutation in COCH had no clinical significance. The results allowed us to retrospectively identify the phenocopy in one patient that contributed to the negative finding in the linkage scan. Our clinical data also supported the emerging genotype-phenotype correlation for DFNA22.

  5. Identification of a novel mutation of the gene for gap junction protein α3 (GJA3) in a Chinese family with congenital cataract.

    Science.gov (United States)

    Hu, Ying; Gao, Lin; Feng, Yali; Yang, Tao; Huang, Shangzhi; Shao, Zhengbo; Yuan, Huiping

    2014-07-01

    Cataract, defined as any opacity of the crystallin lens, can be divided into early onset (congenital or infantile) and age-related. It is the leading cause of visual disability in children, and mutations in many genes have currently been linked with this disorder. In the present study, we identified a genetic defect in a Chinese family with congenital cataract. Genomic DNA was extracted from the venous blood of the family and 100 normal controls. To screen for the disease-causing mutation, we sequenced eight candidate genes, and to predict the functional consequences of the mutation, a structural model of the protein was developed using the Protein Data Bank and PyMOL 1.1r1. We found a novel variant (c.163 A > G transition) in the gene for gap junction protein α3, or the connexin46 gene. This mutation resulted in the substitution of a highly conserved asparagine at codon 55 by aspartic acid (p.N55D). There were no nucleotide polymorphisms in the other candidate genes sequenced.

  6. A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth disease.

    Science.gov (United States)

    Xiao, Fei; Tan, Jia-ze; Zhang, Xu; Wang, Xue-Feng

    2015-03-01

    Gap junction protein beta 1 (GJB1) gene mutations lead to X-linked Charcot-Marie-Tooth (CMTX) disease. We investigated a Chinese family with CMTX and identified a novel GJB1 point mutation. Clinical and electrophysiological features of the pedigree were examined, and sequence alterations of the coding region of GJB1 that encode connexin32 were determined by direct sequencing. Sequence alignment of the mutation site was performed using Clustal W. Mutation effects were analysed using PolyPhen-2, SIFT and Mutation Taster software. The three-dimensional structures of the mutant and wild-type proteins were predicted by modeling with SWISS MODEL online software. The affected family members displayed typical Charcot-Marie-Tooth phenotypes, but phenotypic heterogeneity was observed. Nerve conduction velocities of all affected patients were slow. Sequencing of GJB1 revealed a heterozygous T>G missense mutation at nucleotide 212 in the proband, the proband's mother and the proband's daughter. The affected male sibling of the proband displayed a hemizygous missense mutation with T>G transition at the identical position on the GJB1 gene. This mutation resulted in an amino acid change from isoleucine to serine that was predicted to lead to tertiary structural alterations that would disrupt the function of the GJB1 protein. A novel point mutation in GJB1 was detected, expanding the spectrum of GJB1 mutations known to be associated with CMTX.

  7. Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A.

    Science.gov (United States)

    Wang, Hua-Wei; Jia, Xiaoyun; Ji, Yanli; Kong, Qing-Peng; Zhang, Qingjiong; Yao, Yong-Gang; Zhang, Ya-Ping

    2008-08-25

    The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (PLHON in the two Chinese families is independent of both their mtDNA haplotype background and a secondary mutation G13708A. As a result, it is likely that unknown nuclear gene involvement and/or other factors contribute to the strikingly different penetrance of LHON.

  8. 我国诺里病家系NDP基因的突变分析%Analysis of gene mutation in a Chinese family with Norrie disease

    Institute of Scientific and Technical Information of China (English)

    张天晓; 赵秀丽; 华芮; 张劲松; 张学

    2012-01-01

    Objective To detect the pathogenic mutation in a Chinese family with Norrie disease.Methods Clinical diagnosis was based on familial history,clinical sign and B ultrasonic examination.Peripheral blood samples were obtained from all available members in a Chinese family with Norrie disease.Genomic DNA was extracted from lymphocytes by the standard SDS-proteinase K-phenol/chloroform method.Two coding exons and all intron-exon boundaries of the NDP gene were PCR amplified using three pairs of primers and subjected to automatic DNA sequence.The causative mutation was confirmed by restriction enzyme analysis and genotyping analysis in all members.Results Sequence analysis of NDP gene revealed a missense mutation c.220C > T (p.Arg74Cys ) in the proband and his mother. Further mutation identification by restriction enzyme analysis and genotyping analysis showed that the proband was homozygote of this mutation.His mother and other four unaffected members ( Ⅲ3,Ⅳ4,Ⅲ5 and Ⅱ2) were carriers of this mutation.The mutant amino acid located in the C-terminal cystine knot-like domain,which was critical motif for the structure and function of NDP. Conclusion A NDP missense mutation was identified in a Chinese family with Norrie disease.%目的 对我国诺里病一家系进行致病基因突变的鉴定,确定其家系中是否存在NDP基因突变.方法 基因家系研究.发现一个3代均患有诺里病的家系,共13人,患者3人,现存患者仅先证者1人,为20月龄男孩.根据诺里病家族史、临床体征及眼科B超检查对患者进行临床诊断;采集该家系成员外周血标本,常规提取基因组DNA;设计并合成3对特异性引物,通过PCR扩增NDP基因的外显子及外显子与内含子交界区,PCR产物直接测序;通过PCR产物限制性内切酶分析和基因型分析对家系所有13名成员进行突变鉴定.结果 基因测序结果显示先证者及其母亲均具有NDP基因突变c.220C> T(p.Arg74Cys),且先证者为

  9. A Unique Profile of Adenomatous Polyposis Coli Gene Mutations in Iranian Patients Suffering Sporadic Colorectal Cancer

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    Mojtaba Hasanpour

    2014-03-01

    Full Text Available Objective: Colorectal cancer (CRC is one of the most common and aggressive cancers worldwide. The majority of CRC cases are sporadic that caused by somatic mutations. The Adenomatous Polyposis Coli (APC; OMIM 611731 is a tumor suppressor gene of Wnt pathway and is frequently mutated in CRC cases. This study was designed to investigate the spectrum of APC gene mutations in Iranian patients with sporadic colorectal cancer. Materials and Methods: In this descriptive study, Tumor and normal tissue samples were obtained from thirty randomly selected and unrelated sporadic CRC patients. We examined the hotspot region of the APC gene in all patients. Our mutation detection method was direct DNA sequencing. Results: We found a total of 8 different APC mutations, including two nonsense mutations (c.4099C>T and c.4348C>T, two missense mutations (c.3236C>G and c.3527C>T and four frame shift mutations (c.2804dupA, c.4317delT, c.4464_4471delATTACATT and c.4468_4469dupCA. The c.3236C>G and c.4468_4469dupCA are novel mutations. The overall frequency of APC mutation was 26.7% (8 of 30 patients. Conclusion: This mutation rate is lower in comparison with previous studies from other countries. The findings of present study demonstrate a different APC mutation spectrum in CRC patients of Iranian origin compared with other populations.

  10. Concomitant hepatocellular adenoma and adenomatous hyperplasia in a patient without cirrhosis

    Institute of Scientific and Technical Information of China (English)

    Chuan-Yuan Hsu; Cheng-Hsin Chu; Shee-Chan Lin; Fee-Shih Yang; Tsen-Long Yang; Kuo-Ming Chang

    2003-01-01

    AIM: Hepatocelluar adenoma (HCA) and adenomatous hyperplasia (AH) are rare benign tumors of the liver. HCA is usually found in women who use oral contraceptives. AH usually occurs in patients with liver cirrhosis. Both tumors have potential for malignant transformation.METHODS: We described a male adult with chronic liver disease (CLD) who had been known to be a hepatitis B carrier (HBV) for years. He was found to have a spaceoccupying lesion with a suspicion of hepatocellular carcinoma (HCC) by abdominal ultrasonography. His α-fetoprotein (AFP)was normal. Angiographic findings were consistent with the diagnosis of HCC, he wished to avoid an operation, was treated with transcatheter hepatic arterial embolization.RESULTS: He subsequently consented to surgery, and a right lobectomy was performed. The liver pathology disclosed HCA with nuclear dysplasia and post-embolization effects.In addition, there were multiple small foci of AH with nuclear dysplasia in the resected liver. Although he had some focal areas of cirrhosis-like change or post-embolization effect,the AH was associated only with normal liver tissue.CONCLUSION: This case confirms that HCA and AH may resemble HCC on imaging studies, and that AH may occur in CLD in the absence of cirrhotic change.

  11. Structural basis for the recognition of Asef by adenomatous polyposis coli

    Institute of Scientific and Technical Information of China (English)

    Zhenyi Zhang; Ping Xu; Jian Zhang; Geng Wu; Leyi Chen; Lei Gao; Kui Lin; Liang Zhu; Yang Lu; Xiaoshan Shi; Yuan Gao; Jing Zhou

    2012-01-01

    Adenomatous polyposis coli (APC) regulates cell-cell adhesion and cell migration through activating the APC-stimulated guanine nucleotide-exchange factor (GEF; Aset),which is usually autoinhibited through the binding between its Src homology 3 (SH3) and Dbl homology (DH) domains.The APC-activated Asef stimulates the small GTPase Cdc42,which leads to decreased cell-cell adherence and enhanced cell migration.In colorectal cancers,truncated APC constitutively activates Asef and promotes cancer cell migration and angiogenesis.Here,we report crystal structures of the human APC/Asef complex.We find that the armadillo repeat domain of APC uses a highly conserved surface groove to recognize the APC-binding region (ABR) of Asef,conformation of which changes dramatically upon binding to APC.Key residues on APC and Asef for the complex formation were mutated and their importance was demonstrated by binding and activity assays.Structural superimposition of the APC/Asef complex with autoinhibited Asef suggests that the binding between APC and Asef might create a steric clash between AsefDH domain and APC,which possibly leads to a conformational change in Asef that stimulates its GEF activity.Our structures thus elucidate the molecular mechanism of Asef recognition by APC,as well as provide a potential target for pharmaceutical intervention against cancers.

  12. A Seminar on Curbing Family Violence

    Institute of Scientific and Technical Information of China (English)

    SANDY; ZHU

    2000-01-01

    CURBING family violence has become a priority for Chinese women's federations since 1995, when the concept of family violence was accepted by Chinese women's organizations. At the basic level, it is one of many tasks for safeguarding women's

  13. Detection of a new mutation (1467-A) for the pedigree with mucopolysaccharidosis type Ⅱ from a Chinese family

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    GUO Yibin; PAN Jingxin; DU Chuanshu

    2005-01-01

    Mucopolysaccharidosis type II is of high genetic heterogeneity. PCR-DNA sequencing was used to study the mutation hot spots in the IDS gene of a Chinese MPS II pedigree. A new mutation (1467-A) not yet reported worldwide was detected. This mutation located at 448th codon in the coding region of exon 9 deletes one "A" at the end of 1467 bp (cDNA). The frame-shift mutation makes the peptide chain shorten from amino acids 550 to 459, probably altering the configuration of IDS enzyme protein remarkably and lowering the activation of IDS greatly. Therefore it is supposed to be the direct cause of the patient with MPS II and to be a necessary premise for prenatal gene diagnosis.

  14. Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.

    Science.gov (United States)

    Zhang, Zeng; Bao, Kun; He, Jin-Wei; Fu, Wen-Zhen; Zhang, Chang-Qing; Zhang, Zhen-Lin

    2012-12-15

    Ellis-van Creveld syndrome (EvC) is a rare autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. It is caused by biallelic mutations in the EVC or EVC2 gene. Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC. Identification of a novel genotype in EvC will provide clues to the phenotype-genotype relations and may assist not only in the clinical diagnosis of EvC but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling.

  15. EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia

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    LIU Feng-xia; LI Yan-xiang; ZHANG Xu-de; REN Cui-ai; HUANG Shang-zhi; YU Meng-xue

    2013-01-01

    Background Multiple epiphysis dysplasia (MED) is a common skeletal dysplasia with a significant locus heterogeneity.In the majority of clinically defined.cases,mutations have been identified in the gene encoding cartilage algometric matrix protein (COMP).Methods Five patients were included in the study.Linkage analysis and mutation analysis of the COMP gene were conducted in the patients and their family members.Results We have identified a novel mutation in axon 14 of COMPgene in the family.Conclusions This mutation produced a severe MED phenotype with marked short stature,early onset osteoarthritis,and remarkable radiographic changes.Our results extended the range of disease-causing mutations in COMP gene and contributed more information about relationship between mutations and phenotype.

  16. Suicidal ideation, plans, and attempts among rural young Chinese: the effect of suicide death by a family member or friend.

    Science.gov (United States)

    Zhang, Jie; Zhou, Li

    2011-10-01

    Suicidal ideation, plans, and attempts have been found to be predictors of suicide. This study aims to estimate the suicidal behaviors in rural China. We studied 784 respondents as informants of suicide and 1,247 respondents as informants of community living controls, with the NCS-R measures on suicidal behaviors. The lifetime prevalence of ideation, plans, and attempts among the informants of suicide was 18.1, 4.1, and 1.7%, and the 12-month prevalence was 12.1, 2.2, and 0.4%, respectively. The prevalence scores were higher for the family members than for friends of suicide. The risk factors for suicidal behaviors include being parents or spouse of the suicide, female gender, low education level, and being never married. As suicidal behaviors are more observed among those who have a suicide death in the family or among close friends, suicide screening and intervention efforts should be focused on this type of population.

  17. Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma

    Institute of Scientific and Technical Information of China (English)

    ZHUO Ye-hong; WANG Mei; WEI Yan-tao; HUANG Ya-lin; GE Jian

    2006-01-01

    Background Glaucoma is one of the leading causes of blindness in the world. Primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG) are subtypes of glaucoma. Myocillin is the first gene identified to be involved in POAG. Recently, myocillin mutation has been found in PCG In this context, we reported a special glaucoma pedigree, which was composed of both PCG and POAG patients, and analyzed the mutation of myocillin in this pedigree.Methods The family was composed of the parents, a son and a daughter. All members of the family underwent the complete ophthalmologic examinations. All coding exons 1-3 and flanking introns of myocilin gene were screened for sequence alterations by polymerase chain reaction and direct DNA sequencing.Results The son was the proband, who was diagnosed as PCG in both eyes. The father was diagnosed as POAG in the right eye, the left eye was still normal. Both the sister and the mother of the proband had normal intraocular pressure without glaucomatous optic disc changes. The mutations in intron 2 of myocilin gene were detected in the family. While the proband and the father were homozygous, the mother and the sister were heterozygous for the mutation.Conclusions Homozygous mutation in intron 2 of myocilin gene is involved in both POAG and PCG. It is suggested that the pathogenesis might be overlapping in POAG and PCG.

  18. A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling

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    Jia WX

    2015-04-01

    Full Text Available Wei-Xue Jia,1,2 Xue-Min Xiao,1,2 Jian-Bing Wu,1,2 Yi-Ping Ma,1,2 Yi-Ping Ge,1,2 Qi Li,1,2 Qiu-Xia Mao,1,2 Cheng-Rang Li1,2 1Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China; 2Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China Abstract: Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. It has been found to be associated with mutations in the KIT or SLUG genes. We report a Chinese piebaldism family including a 28-year-old woman and her 3-year-old son with characteristics of white patches and forelock associated with numerous brown macules and patches. Genomic DNA samples of the proband and her son were extracted from their peripheral blood. One hundred unrelated healthy individuals were used as controls. All coding regions of KIT, SLUG, and NF1 genes were amplified by polymerase chain reaction using exon flanking intronic primers and Sanger sequencings were performed. DNA sequencing revealed heterozygous missense c.2431T>G mutation in exon 17 of the KIT gene in the proband and the affected son. No potentially pathogenic variant was identified in SLUG or NF1 genes. The nucleotide substitution was not found in 100 unrelated control individuals. This study reveals a novel KIT mutation in piebaldism, and it further supports that café-au-lait macules and intertriginous freckling of piebaldism are parts of pigmented anomaly in piebaldism, which does not necessarily represent coexistence of neurofibromatosis type 1 (NF1. Keywords: novel mutation, KIT gene, neurofibromatosis type 1 

  19. Family-Based Association Study of rs17300539 and rs12495941 Polymorphism in Adiponectin Gene and Polycystic Ovary Syndrome in a Chinese Population

    Science.gov (United States)

    Sun, Xianchang; Wu, Xingguo; Duan, Yunmin; Liu, Guanghai; Yu, Xinyan; Zhang, Wenjuan

    2017-01-01

    Backgriond Polycystic ovary syndrome (PCOS) is a complex disease that has both genetic and environmental components. Adiponectin plays an important role in the regulation of insulin sensitivity and insulin resistance (IR) in PCOS. The aim of this study was to determine 2 single-nucleotide polymorphisms (SNPs) variants (rs12495941 and rs17300539) of the adiponectin gene (ADIPOQ) in polycystic ovary syndrome (PCOS) families. Material/Methods We recruited 197 PCOS probands, their biological parents, and 192 controls. Anthropometric variables, including hip circumference (HC) and waist circumference (WC), were measured in all subjects during their first visit to the outpatient department. Serum T, FBG, FINS, TC, TG, LDL, and HDL levels were measured. PCOS patients were divided into 2 groups based on BMI: group A (BMI <25 kg/m2) and group B (BMI ≥25 kg/m2). Parents of PCOS were accordingly categorized into group C and group D (fathers), and group E and group F (mothers). The associations among ADIPOQ rs12495941, rs17300539, and PCOS were analyzed using the transmission disequilibrium test (TDT). Results A significant association was found between SNP rs17300539 and PCOS in our Chinese population. The levels of TG and FINS and the genotype frequencies of rs17300539 are significantly different between overweight and lean PCOS. No significant association was detected for rs12495941. Conclusions TDT confirms that rs17300539 of ADIPOQ is strongly associated with the risk of PCOS in a Chinese Han population, but rs12495941 of ADIPOQ is not associated with the occurrence of PCOS. PMID:28060790

  20. Chinese Children's Songs.

    Science.gov (United States)

    Kwok, Irene, Comp.

    Singing can be an enjoyable and effective way to motivate children to learn a second language. This booklet consists of contemporary and folk songs that are related to Chinese festivals, transportation, the family, seasons, Christmas and other topics. Each page gives the music to a song with the words in Chinese and in English. The songs are…

  1. Finding Family

    Institute of Scientific and Technical Information of China (English)

    LIU YUNYUN

    2010-01-01

    @@ It took 14 years--and just two min-utes-for an adopted Chinese girl to find her biological family. July 21 this year marked the first anniversary of Haley Butler's finding of her biological parents in Maanshan in east China's Anhui Province.

  2. Finding Family

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Discovering her birth parents was an exciting adventure for a 15-year-old girl It took 14 years-and just two minutes-for an adopted Chinese girl to find her biological family.July 21 this year marked the first

  3. A new mutation in the thyroid hormone receptor gene of a Chinese family with resistance to thyroid hormone

    Institute of Scientific and Technical Information of China (English)

    DONG Qian; GONG Chun-xiu; GU Yi; SU Chang

    2011-01-01

    Background Resistance to thyroid hormone (RTH) is a dominant inherited syndrome of reduced tissue responsiveness to thyroid hormone. It is usually due to mutations located at the ligand-binding domain and adjacent hinge region of the thyroid hormone receptor β(TRβ). We report the clinical and laboratory characteristics and the genetic analysis of a patient with this rare disorder and his family members.Methods The clinical presentations and changes of thyroid function tests (TFTs) including magnetic resonance imaging (MRI) of pituitary and other laboratory tests were analysed. TFTs of his family's members were detected as well. Direct DNA sequencing of the TRβ gene was done for those with abnormal TFTs.Results The RTH child had goiter, irritability, aggressiveness, and sudoresis. His TFTs showed high levels of circulating free thyroid hormones (FT4 and FT3) and normal thyroid-stimulating hormone (TSH) concentrations. He felt worse when treated as hyperthyroidism (Grave disease) with thiamazole and his clinical presentations got improved obviously when treated as RTH with bromocriptine without obvious advert effect. We identified a novel missense mutation, A317D, located in exon 9 of the gene of this boy and his mother. His mother had not any clinical presentation, but having abnormal TFTs results.Conclusions This patient reported here was concordant with the criteria of RTH. The feature is dysfunction of hypothalamus-pituitary-thyroid axis. A novel mutation was found in the TRβ, A317D, of this family. This research verified the phenomena that there is a clinical heterogeneity within the same mutation of different RTH patients.

  4. Problems of Family-oriented Governance Structure in Chinese Private Enterprise%关于民营企业治理结构的家族化问题

    Institute of Scientific and Technical Information of China (English)

    欧阳萍; 许跃辉

    2009-01-01

    以家族为基础成长起来的我国民营企业经过多年的发展,目前已处于产权革新阶段,由产权引发的治理结构问题在成为制约民营企业持续发展壮大的关键因素.文章首先对中国民营企业治理结构的现状归纳分析;然后基于委托代理论,对民营企业治理结构家族化的原因进行分析;最后,分析民营企业治理结构家族化面临的问题,说明企业成长的内在规定性要求家族企业沿着所有权和控制权的路径变迁,并最终过渡到由支薪经理所支配的现代股份公司.%Chinese private enterprise based on a family has been grown-up for many years, and is now in the stage of property rights innovation. The property right by the governance structure is being the key constraints of sustainable development of private enterprises. So this paper firstly analysis of circumstances of the governance structure in chinese private enterprises Secondly, on view of theory commissioned , cause's of the private corporate governance structure has been made analysis for the intrinsic growth of the enterprise requirement of changes along the family business ownership and control of the path, and eventually transition to be dominated by the payroll manager modern joint-stock companies; Finally, rational goal of governance structure is to change ties based on the marriage and blood into separation of ownership and control, transiting private enterprises into modern joint-stock companies dominated by managers.

  5. Structural, evolutionary and functional analysis of the class III peroxidase gene family in Chinese pear (Pyrus bretschneideri

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    Yun Peng Cao

    2016-12-01

    Full Text Available Peroxidases (PRXs are widely existed in various organisms and could be divided into different types according to their structures and functions. Specifically, the Class III Peroxidase, a plant-specific multi-gene family, involves in many physiological processes, such as the metabolism of auxin, the extension and thickening of cell wall, as well as the formation of lignin. By searching the pear genome database, 94 non-redundant PRXs from Pyrus bretschneideri (PbPRXs were identified. Subsequently, analysis of phylogenetic relationships, gene structures, conserved motifs, and microsynteny was performed. These PbPRXs were unevenly distributed among 17 chromosomes of pear. In addition, 26 segmental duplication events but only one tandem duplication were occurred in these PbPRXs, implying segmental duplication was the main contributor to the expansion of the PbPRX family. By the Ka/Ks analysis, 26 out of 27 duplicated PbPRXs has experienced purifying selection. Twenty motifs were identified in PbPRXs based on the MEME analysis, eleven of which were enriched in pear. A total of 41 expressed genes were identified from ESTs of pear fruit. According to qRT-PCR, the expression trends of five PbPRXs in subgroup C were consistent with the change of lignin content during pear fruit development. So we inferred that the five PbPRXs were candidate genes involved in the lignin synthesis pathway. These results provided useful information for further researches of PRX genes in pear.

  6. Determination of optical properties of normal and adenomatous human colon tissues in vitro using integrating sphere techniques

    Institute of Scientific and Technical Information of China (English)

    Hua-Jiang Wei; Da Xing; Jian-Jun Lu; Huai-Min Gu; Guo-Yong Wu; Ying Jin

    2005-01-01

    AIM: The purpose of the present study is to compare the optical properties of normal human colon mucosa/submucosa and muscle layer/chorion, and adenomatous human colon mucosa/submucosa and muscle layer/chorion in vitro at 476.5, 488, 496.5, 514.5 and 532 nm. We believe these differences in optical properties should help differential diagnosis of human colon tissues by using optical methods.METHODS: In vitro optical properties were investigated for four kinds of tissues: normal human colon mucosa/submucosa and muscle layer/chorion, and adenomatous human colon mucosa/submucosa and muscle layer/chorion. Tissue samples were taken from 13 human colons (13 adenomatous, 13 normal). From the normal human colons a total of 26 tissue samples, with a mean thickness of 0.40 mm, were used (13 from mucosa/submucosa and 13 from muscle layer/chorion), and from the adenomatous human bladders a total of 26 tissue samples, with a mean thickness of 0.40 mm, were used (13 from mucosa/submucosa and 13 from muscle layer/chorion). The measurements were performed using a double-integratingsphere setup and the optical properties were assessed from these measurements using the adding-doubling method that was considered reliable.RESULTS: The results of measurement showed that there were significant differences in the absorption coefficients and scattering coefficients between normal and adenomatous human colon mucosa/submucosa at the same wavelength,and there were also significant differences in the two optical parameters between both colon muscle layer/chorion at the same wavelength. And there were large differences in the anisotropy factors between both colon mucosa/submucosa at the same wavelength, there were also large differences in the anisotropy factors between both colon muscle layer/chorion at the same wavelength.There were large differences in the value ranges of the absorption coefficients, scattering coefficients and anisotropy factors between both colon mucosa/submucosa,and there

  7. Apoplexia hipofisária intradenomatosa Intra-adenomatous pituitary apoplexy

    Directory of Open Access Journals (Sweden)

    Flávio Freinkel Rodrigues

    1997-01-01

    Full Text Available Os autores analisam a literatura sobre apoplexia hipofisária intradenomatosa, enfocando a fisiopatologia, o diagnóstico e a conduta terapêutica. Estudam 5 casos , de uma série de 86 pacientes com tumores hipofisários que desenvolveram esta síndrome e que foram diagnosticados e acompanhados pelos serviços de Neurocirurgia e Endocrinologia do Hospital Universitário Clementino Fraga Filho da Universidade Federal do Rio de Janeiro. Todos os casos, a partir da suspeita clínica, tiveram o diagnóstico confirmado por estudo de tomografia computadorizada de crânio e/ou ressonância magnética de crânio. O tratamento de escolha foi cirúrgico. As conclusões apontam para as dificuldades diagnósticas desta situação clínica e da urgência na instituição da terapia.The authors review the literature on intra-adenomatous pituitary apoplexy with special emphasis on pathophysiology, diagnosis and therapeutic approach. They present five cases, from a series of 86 patients with pituitary tumors, that developed this syndrome. The patients were diagnosed and followed by the Neurosurgery and Endocrinology Services of Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro. Diagnosis was confirmed by CT-Scan and MRI in all cases , and the treatment of choice was surgical. Conclusions point to the diagnostic difficulties and the urgency of treatment in this clincal setting.

  8. Cloning, characterization, and expression analysis of the DEAD-box family genes, Fc-vasa and Fc-PL10a, in Chinese shrimp ( Fenneropenaeus chinensis)

    Science.gov (United States)

    Zhou, Qianru; Shao, Mingyu; Qin, Zhenkui; Kyoung, Ho Kang; Zhang, Zhifeng

    2010-01-01

    RNA helicases of the DEAD-box and related families are involved in various cellular processes including DNA replication, DNA repair, and RNA processing. However, the function of DEAD-box proteins in aquaculture species is poorly understood at molecular level. We obtained the full-length cDNA sequences of two genes encoding helicase-related proteins, Fc-vasa and Fc-PL10a, from the testes of Chinese shrimp, Fenneropenaeus chinensis. The two predicted amino acid sequences contain all the conserved motifs characterized by the DEAD-box family and several RGG repeats in the N-terminal regions. Homology and phylogenetic analyses indicate that they belong to the vasa and PL10 subfamilies. The three-dimensional structures of the two proteins were predicted with a homology modeling approach. Both core proteins consist of two tandem RecA-like domains similar to those of the DEAD-box RNA helicase. Using reverse transcription-polymerase chain reaction (RT-PCR) and real-time PCR we found that Fc-vasa was expressed specifically in the adult gonads. Transcription decreased in the ovary but increased in the testis during gonadal development. Fc-PL10a expression was widely distributed in the tissues we examined. Using in situ hybridization, we demonstrated that the Fc-vasa transcript is localized to the cytoplasm of the spermatogonia and oocytes. Thus, our results suggest that Fc-vasa plays an important role in germ-line development, and has utility as a germ cell lineage marker which will help to generate new insight into the origin and differentiation of germ cells as well as the regulation of reproduction in F. chinensis.

  9. Early-onset primary torsional dystonia in a 4-generation Chinese family with a mutation in the DYT1 gene

    Institute of Scientific and Technical Information of China (English)

    YEUNG Wai Lan; LAM Ching Wan; CHENG Wai Tsoi; SIN Ngai Chuen; WONG Wing Kin; WONG Chun Nei; TSE Ka Ming; FOK Tai Fai

    2005-01-01

    @@ Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. At least thirteen different types of dystonia can be distinguished on a genetic basis.1 The DYT1 gene was first mapped by Ozelius et al in 1989.2 Kramer et al3 linked the same locus to PTD in 12 Ashkenazi Jewish families in 1990. Most patients with early-onset generalized PTD were caused by the same three base pair (GAG) deletion in the DYT1 gene on chromosome 9q34.1,4,5 The product of the gene is a protein called torsinA.5 Although the function of this protein is as yet uncertain, it is widely distributed throughout the brain with high levels in the substantia nigra compacta dopamine neurones.

  10. A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family

    Institute of Scientific and Technical Information of China (English)

    LI Xun-hua; SONG Chun; CHEN Su-qin; ZHOU Yan; GUO Hui; ZHOU Chun-long; YANG Zhi-yun; LIANG Yin-xing; WANG Yi-ming

    2007-01-01

    @@ Hereditary spastic paraplegia (HSP) (MIM#182600) is a group of heterogeneous neurodegenerative disorders, with 35 underlying loci recognized by the HGNC (HUGO Gene Nomenclature Committee;http://www.gene.ucl.ac.uk/nomenclature/) and 10 identified genes ( http://www.gene.ucl.ac.uk/cgi-bin/nomenclature/searchgenes.pl plus NIPA1, last search July 2006). The mode of inheritance may be autosomal dominant,autosomal recessive or X-linked. Among these, autosomal dominant spastic paraplegia (AD-HSP) is the most common type, accounting for 70%-80% of all families.1The disease is characterized by lower limb spasticity,hyperreflexia, progressive spastic gait and an extensor plantar response. Pes cavus is one of the commonly reported foot phenotypes.2

  11. Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family.

    Science.gov (United States)

    Wang, Xiran; Pei, Yu; Dou, Jingtao; Lu, Juming; Li, Jian; Lv, Zhaohui

    2015-03-01

    Osteogenesis imperfecta (OI) is a family of genetic disorders associated with bone loss and fragility. Mutations associated with OI have been found in genes encoding the type I collagen chains. People with OI type I often produce insufficient α1-chain type I collagen because of frameshift, nonsense, or splice site mutations in COL1A1 or COL1A2. This report is of a Chinese daughter and mother who had both experienced two bone fractures. Because skeletal fragility is predominantly inherited, we focused on identifying mutations in COL1A1 and COL1A2 genes. A novel mutation in COL1A1, c.700delG, was detected by genomic DNA sequencing in the mother and daughter, but not in their relatives. The identification of this mutation led to the conclusion that they were affected by mild OI type I. Open reading frame analysis indicated that this frameshift mutation would truncate α1-chain type I collagen at residue p263 (p.E234KfsX264), while the wild-type protein would contain 1,464 residues. The clinical data were consistent with the patients' diagnosis of mild OI type I caused by haploinsufficiency of α1-chain type I collagen. Combined with previous reports, identification of the novel mutation COL1A1-c.700delG in these patients suggests that additional genetic and environmental factors may influence the severity of OI.

  12. A novel deletion-frameshift mutation in the S1 region of HERG gene in a Chinese family with long QT syndrome

    Institute of Scientific and Technical Information of China (English)

    GAO Ying; ZHANG Ping; LI Xue-bin; WU Cun-cao; GUO Ji-hong

    2013-01-01

    Background The congenital Long QT syndrome (LQTS) is a hereditary cardiac channelopathy that is characterized by a prolonged QT interval,syncope,ventricular arrhythmias,and sudden death.The chromosome 7-linked type 2 congenital LQTS (LQT2) is caused by gene mutations in the human ether-a-go-go-related gene (HERG).Methods A Chinese family diagnosed with LQTS were screened for KCNQ1,HERG and SCN5A,using polymerase chain reaction (PCR),direct sequencing,and clong sequencing.We also investigated the mRNA expression of the HERG gene.Results We identified a novel i414fs+98X mutation in the HERG gene.The deletion mutation of 14-bp in the first transmembrane segment (S1) introduced premature termination codons (PTCs) at the end of exon 6.This mutation would result in a serious phenotype if the truncated proteins co-assembled with normal subunit to form the defective channels.But only the proband was symptomatic.Conclusions We found that the mRNA level of the HERG gene was significantly lower in 1414fs+98X carriers than in noncarriers.We found a novel 1414fs+98X mutation.The mRNA level supports that NMD mechanism might regulate the novel mutation.

  13. Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.

    Science.gov (United States)

    Shen, Wenjing; Han, Dong; Zhang, Jin; Zhao, Hongshan; Feng, Hailan

    2011-09-01

    Ellis-van Creveld syndrome (EvC, chondroectodermal dysplasia; OMIM 225500) is an autosomal recessive skeletal dysplasia with associated multisystem involvement. The syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, and abnormal teeth. Congenital heart defects occur in 50-60% of cases. In this study, we report EvC in a 6-year-old Chinese girl with hypodontia and polydactyly, mild short stature, and abnormalities of the knee joints. No signs of short ribs, narrow thorax, or congenital heart defects were found in this patient. The EvC phenotype shares some similarity with Weyers acrofacial dysostosis (Weyer; OMIM 193530), an autosomal dominant disorder clinically characterized by mild short stature, postaxial polydactyly, nail dystrophy, and dysplastic teeth. Mutations in EVC or EVC2 are associated with both EvC syndrome and Weyers acrodental dysostosis, but the two conditions differ in the severity of the phenotype and their pattern of inheritance. In this study, two novel heterozygous EVC2 mutations, IVS5-2A > G and c.2653C > T (Arg885X), were identified in the patient. The IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father. Her parents have no phenotypic symptoms similar to those of the patient. These findings extend the mutation spectrum of this malformation syndrome and provide the possibility of prenatal diagnosis for future offspring in this family.

  14. Adenomatous hyperplasia of the thyroid gland in beluga whales (Delphinapterus leucas) from the St. Lawrence Estuary and Hudson Bay, Quebec, Canada.

    Science.gov (United States)

    Mikaelian, I; Labelle, P; Kopal, M; De Guise, S; Martineau, D

    2003-11-01

    We evaluated thyroid gland lesions in beluga whales (Delphinapterus leucas) from the St. Lawrence Estuary (n = 16) and Hudson Bay (n = 14). Follicular cysts and nodules of adenomatous hyperplasia of the thyroid gland were found in eight and nine adults from the St. Lawrence Estuary (n = 10), respectively, and in four and six adults from Hudson Bay (n = 14), respectively. The total volume of the lesions of thyroid adenomatous hyperplasia was positively correlated with age in both populations. Comparison between populations could not be performed because of differences in age structures of sample groups. Beluga whales from both populations have unique thyroid lesions among marine mammals.

  15. Intestinal trefoil factor controls the expression of the adenomatous polyposis coli-catenin and the E-cadherin-catenin complexes in human colon carcinoma cells.

    Science.gov (United States)

    Efstathiou, J A; Noda, M; Rowan, A; Dixon, C; Chinery, R; Jawhari, A; Hattori, T; Wright, N A; Bodmer, W F; Pignatelli, M

    1998-03-17

    Intestinal trefoil factor 3 (TFF3) is a member of the trefoil family of peptides, small molecules constitutively expressed in epithelial tissues, including the gastrointestinal tract. TFF3 has been shown to promote migration of intestinal epithelial cells in vitro and to enhance mucosal healing and epithelial restitution in vivo. In this study, we evaluated the effect of recombinant TFF3 (rTFF3) stimulation on the expression and cellular localization of the epithelial (E)-cadherin-catenin complex, a prime mediator of Ca2+ dependent cell-cell adhesion, and the adenomatous polyposis coli (APC)-catenin complex in HT29, HCT116, and SW480 colorectal carcinoma cell lines. Stimulation by rTFF3 (10(-9) M and 10(-8) M) for 20-24 hr led to cell detachment and to a reduction in intercellular adhesion in HT29 and HCT116 cells. In both cell lines, E-cadherin expression was down-regulated. The expression of APC, alpha-catenin and beta-catenin also was decreased in HT29 cells, with a translocation of APC into the nucleus. No change in either cell adhesion or in the expression of E-cadherin, the catenins, and APC was detected in SW480 cells. In addition, TFF3 induced DNA fragmentation and morphological changes characteristic of apoptosis in HT29. Tyrphostin, a competitive inhibitor of protein tyrosine kinases, inhibited the effects of TFF3. Our results indicate that by perturbing the complexes between E-cadherin, beta-catenin, and associated proteins, TFF3 may modulate epithelial cell adhesion, migration, and survival.

  16. 基于姓氏用字驱动与统计的中文姓名识别方法的研究%Research on a Chinese Name Indentification Method Based on Family Name Drived and Statistcs

    Institute of Scientific and Technical Information of China (English)

    方玉萍; 罗陈红; 陈恳

    2013-01-01

    Indentification of Chinese names is field of unknown word in processing of Chinese information, but also it is important to process the feature of Chinese text. Aimed at general laws and characteristics of Chinese name composition, this paper proposes a method of hybrid Chinese name identification based on family name drived approach, which combines methods of statistcs. The method deals surname for driving, and uses it as a clue, combined with the statistical method to evaluation of the authenticity of the name.%中文姓名识别是中文信息处理中未登录词处理的范畴,同时也是中文文本特征词处理的重要部份.针对中文姓名构成的一般规律和特征,本文进行姓氏用字驱动与统计相结合的中文姓名识别方法的研究,该方法以中文姓氏为驱动,并以此为线索,再结合统计方法评价姓名的真实性.

  17. 基于外部环境变迁的中国家族企业演化博弈研究%Evolutionary Game Research of Chinese Family Business based on the External Environment Change

    Institute of Scientific and Technical Information of China (English)

    谢涛

    2014-01-01

    通过构建家族企业演化博弈理论框架,本文梳理了中国家族企业外部环境流变,分析了聂氏家族、冯氏家族企业的内部博弈和外部博弈。从中国家族企业外部环境变迁中可以看出政权的更迭给家族企业营造了不利的发展环境,家族企业在无干预的社会环境下会发展得更好;通过比较聂氏恒丰和冯氏利丰演化博弈的发展经历,发现未完全演化的家族企业终将走向衰亡,惟有形成新认知模式、完全演化的家族企业才能成功延续。%By constructing an evolutionary game theoretical framework of family business , this article teased out the ex-ternal environment change of Chinese family business , analyzed the internal game and external game of Nie′s, Feng′s family business .The external environment change of Chinese family business showed , regime changes caused adverse en-vironment to the development of family business , it would be better developed without intervention of external social envi -ronment;by comparing the evolutionary game development experience of Nie′s and Feng′s family business , the paper found the family business of incomplete evolution will eventually end , so only realizing complete evolution and forming new cognitive model , can family business successively survive .

  18. Familial Follicular-Cell Derived Carcinoma

    Directory of Open Access Journals (Sweden)

    Eun Ju eSon

    2012-05-01

    Full Text Available Follicular cell-derived well-differentiated thyroid cancer, papillary (PTC and follicular thyroid carcinomas (FTC compose 95% of all thyroid malignancies. Familial follicular cell-derived well-differentiated thyroid cancers contribute to 5% of those cases. These familial follicular cell derived carcinomas or non-medullary thyroid carcinomas (NMTC divide into two clinical-pathological groups. One group, syndromic-associated, composed by predominately non-thyroidal tumors, is comprised of Pendred syndrome, Warner syndrome, Carney complex type 1, PTEN-hamartoma tumor syndrome (Cowden disease; PHTS, familial adenomatous polyposis (FAP/Gardner syndrome. Additionally other less established links correlated to the development of follicular cell-derived tumors have also included Ataxia-teleangiectasia syndrome, McCune Albright syndrome, and Peutz-Jeghers syndrome. The subsequent group encompasses syndromes typified by non-medullary thyroid carcinomas or NMTC, as well as, pure familial (f PTC with or without oxyphilia, fPTC with multinodular goiter and fPTC with papillary renal cell carcinoma. This heterogeneous group of diseases has not a established genotype-phenotype correlation as the well-known genetic events identified in the familial C-cell-derived tumors or medullary thyroid carcinomas (MTC. Clinicians should be have the knowledge to identify the likelihood of a patient presenting with thyroid cancer having an additional underlying familial syndrome stemming from characteristics through morphological findings that would alert the pathologist to have the patient undergo subsequent molecular genetics evaluations. This review will discuss the clinical and pathological findings of the patients with familial papillary thyroid carcinoma, such as familial adenomatous polyposis, Carney complex, Werner syndrome, and Pendred syndrome and the heterogeneous group of familial papillary thyroid carcinoma.

  19. The Value of CT Attenuation in Distinguishing Atypical Adenomatous Hyperplasia from Adenocarcinoma in Situ

    Directory of Open Access Journals (Sweden)

    Binghu JIANG

    2013-11-01

    Full Text Available Background and objective: Advances in high-resolution computed tomography (CT scanning have increased the detection of small ground-glass opacity (GGO nodules and also allowed such images to be investigated in detail. However, it is difficult to differentiate atypical adenomatous hyperplasia (AAH from adenocarcinoma in situ (AIS with CT, even at follow-up, because they share many similar CT manifestations. While AAH is thought to be a precursor or even an early-stage lesion of lung adenocarcinoma, and the stepwise progression from AAH to AIS is thought to be reasonable. Therefore, the hypothesis that the attenuation of GGO is increased gradually from AAH to AIS is proposed. The aim of this study was to distinguish AAH from AIS with CT attenuation in patients with pure GGO nodules. 
Methods: Between January 2010 and December 2012, the CT findings in terms of the greatest diameter and mean CT attenuation (HU were reviewed and correlated with pathology in 56 patients with AAH (n=21 and non-mucinous AIS (n=38 by two independent observers. All the 59 lesions were pure GGO nodules with size of 2 cm or smaller. To determine variability of measuring CT attenuation, we calculated the 95% confidence interval (CI for the limits of agreement by using Bland-Altman analysis. Student t test was used to compare AAH and AIS in terms of diameter and CT attenuation. And receiver operating characteristic (ROC curve was used to determine the optimal cut-off value of mean CT attenuation for differentiating AAH from AIS and obtain the diagnostic value. Two-tailed P value of less than 0.05 was considered to be significant. 
Results: For the manually measured CT attenuation, the 95%CI for the limits of agreement was -40 HU, 50 HU for inter-observer variability. Although there was significant difference in nodule diameter between AAH and AIS (P=0.046, the overlap was considerable. The mean CT attenuation was (-718±53 HU (95%CI: -822, -604 for AAH, which was

  20. The Value of CT Attenuation in Distinguishing Atypical Adenomatous Hyperplasia from Adenocarcinoma in Situ

    Institute of Scientific and Technical Information of China (English)

    Binghu JIANG; Jichen WANG; Peng JIA; Meizhao LE

    2013-01-01

    Background and objective:Advances in high-resolution computed tomography (CT) scanning have increased the detection of small ground-glass opacity (GGO) nodules and also allowed such images to be investigated in detail. However, it is diffcult to differentiate atypical adenomatous hyperplasia (AAH) from adenocarcinoma in situ (AIS) with CT, even at follow-up, because they share many similar CT manifestations. While AAH is thought to be a precursor or even an early-stage lesion of lung adenocarcinoma, and the stepwise progression from AAH to AIS is thought to be reasonable. hTerefore, the hypothesis that the attenuation of GGO is increased gradually from AAH to AIS is proposed. hTe aim of this study was to distinguish AAH from AIS with CT attenuation in patients with pure GGO nodules. Methods:Between January 2010 and December 2012, the CT ifndings in terms of the greatest diameter and mean CT attenuation (HU) were reviewed and correlated with pathology in 56 patients with AAH (n=21) and non-mucinous AIS (n=38) by two independent observers. All the 59 lesions were pure GGO nodules with size of 2 cm or smaller. To determine variability of measuring CT attenuation, we calculated the 95%conifdence interval (CI) for the limits of agreement by using Bland-Altman analysis. Student t test was used to compare AAH and AIS in terms of diameter and CT attenuation. And receiver operating characteristic (ROC) curve was used to determine the optimal cut-off value of mean CT attenuation for differentiating AAH from AIS and obtain the diagnostic value. Two-tailed P value of less than 0.05 was considered to be signiifcant. Results:For the manually measured CT attenuation, the 95%CI for the limits of agreement was-40 HU, 50 HU for inter-observer variability. Although there was significant difference in nodule diameter between AAH and AIS (P=0.046), the overlap was considerable. hTe mean CT attenuation was (-718±53) HU (95%CI:-822,-604) for AAH, which was signiifcantly smaller than

  1. Targeted deletion of the C-terminus of the mouse adenomatous polyposis coli tumor suppressor results in neurologic phenotypes related to schizophrenia

    NARCIS (Netherlands)

    T. Onouchi (Takanori); K. Kobayashi (Kumiko); D.S. Sakai (Debbie); A. Shimomura (Atsushi); M.J.M. Smits (Ron); C. Sumi-Ichinose (Chiho); M. Kurosumi (Masafumi); M. Takao (Masashi); R. Nomura (Ryuji); A. Iizuka-Kogo (Akiko); H. Suzuki (Hidekazu); K. Kondo; T. Akiyama (Tetsu); T. Miyakawa (Tsuyoshi); R. Fodde (Riccardo); T. Senda (Takao)

    2014-01-01

    textabstractBackground: Loss of adenomatous polyposis coli (APC) gene function results in constitutive activation of the canonical Wnt pathway and represents the main initiating and rate-limiting event in colorectal tumorigenesis. APC is likely to participate in a wide spectrum of biological functio

  2. Authentication of Polygonati Odorati Rhizoma and other two Chinese Materia Medica of the Liliaceae family by pharmacognosy technique with GC-MS analysis.

    Science.gov (United States)

    Liu, Yingjiao; Liu, Canhuang; Yu, Yafei; Xu, Bei; Gong, Limin; Zeng, Xiaoyan; Xiao, Lan; Cheng, Qilai; Liu, Tasi

    2015-02-01

    Yuzhu (Polygonati Odorati Rhizoma), Kangdingyuzhu (Polygonati Prattii Rhizoma), and zhugenqiyuzhu (Disporopsis Fuscopictae Rhizoma) are of the same family, but of different genera. They have all often used in Chinese Materia Medica (CMM) as Polygonati Odorati Rhizoma in China market. Three species of CMM are confused. For better application, we need to identify these plants accurately. This study use pharmacognosy technique and GC-MS analysis, three species of CMM were authenticated. In macroscopic characteristics, the fruit of Polygonati Odorati Rhizoma is blue-black, while the other two are maroon and dark purple orderly. Nodes of Polygonati Odorati Rhizoma are upward and light uplift, about 1 cm spacing, while the other are not. As for microscopic characteristics, the cortex of Polygonati Odorati Rhizoma only occupies about 1/5 of the radius of the transverse section with inconspicuous endodermis, which is much smaller than others. The type of vascular bundles of Polygonati Odorati Rhizoma is closed collateral, but the other is amphivasal. Raphides of calcium oxalate are scattered, but Raphides of the other two are like brooms and neat rows. GC-MS analysis of essential oil could provide different characteristics to distinguish three species. Twenty-three compounds were identified from essential oil of Polygonati Odorati Rhizoma and the main components were n-hexadecanoic acid (49.45%), while n-hexadecanoic acid of the other two are 23.92% and 9.45%. The content of n-hexadecanoic is strongly different. This research was aimed to establish a method by pharmacognosy and GC-MS analysis to identify three CMM and for providing scientifical data to ensure accuracy of origin of three species.

  3. 中西方家庭思想政治教育异同浅析%Comparative Study on Similarities and Differences of Ideological and Political Education between Chinese and Western Family

    Institute of Scientific and Technical Information of China (English)

    李萍

    2016-01-01

    The role of family in the ideological and political education , is mainly refers to the parent edu-cation for family members , also includes parents thought quality and norms of family members of the influence on the formation and development of ideological and political moral character .By comparing Chinese and western family ideological and political education , we can clearly recognize the shortcomings of our family's i-deological and political education in the way and the content , so as to promote the further development of Chi-na's family ideological and political education .%家庭在思想政治教育中的作用,主要是指家长对家庭成员的教育,与此同时还包括家长的思想素质和行为规范对家庭成员思想政治品德形成、发展的影响。通过对中西方家庭思想政治教育比较,认清我国家庭思想政治教育在方式、内容上存在的不足,从而促进我国家庭思想政治教育进一步发展。

  4. 中文版家庭管理测量量表的信效度研究%Validity and reliability of the Chinese version of Family Management Measure

    Institute of Scientific and Technical Information of China (English)

    张莹; 魏珉

    2009-01-01

    Objective To assess the psychometric properties of the Chinese version of Family Man-agement Measure (FaMM). Methods FaMM was translated into Chinese and distributed to 330 caregivers whose children had chronic diseases to fill the questionnaire. Results Cronhach's alpha coefficient for the subscales ranged from 0.52 to 0.86, indicating acceptable internal consistency. The content validity index was 0.84. Construct validity was supported by significant correlation between FaMM and FAD and CBCL,Pearson correlation coefficient ranged from 0.11 to 0.38. The relationship among them accorded with the expected trends of Family Management Style Framework. The result of factor analysis indicated 9 factors explaining 60.08% variance. Conclusions The psychometric property of the Chinese version of FaMM was acceptable and it could be regarded as a reliable and valid instrument to measure the family response of Chinese families whose children had chronic diseases.%目的 检验中文版家庭管理测量量表(family management measure,FaMM)的信度和效度.方法 对330例慢性病患儿的家长进行调查,检验其信度和效度.结果 中文版FaMM各分量表的Cronbach'α系数为0.52~0.86.内容效度CVI为0.84.分量表与中文版FAD和CBCL的关系符合理论框架的假定趋势,Pearson相关系数为0.11~0.38.因子分析得到9个公因子,共解释60.08%的方差.结论 中文版管理测量量表具有良好的信度和效度,可用于我国慢性病患儿家庭反应研究.

  5. Analysis of the depolarizing properties of normal and adenomatous polyps in colon mucosa for the early diagnosis of precancerous lesions

    Science.gov (United States)

    Ortega-Quijano, Noé; Fanjul-Vélez, Félix; de Cos-Pérez, Jesús; Arce-Diego, José Luis

    2011-09-01

    Optical characterization of biological tissues by means of polarimetric techniques is an area of growing interest. Polarized light can be used for malignant neoplasms detection. To our knowledge, few studies have so far focused on lesions that are prone to result in cancer. In this work we present a polarimetric study of depolarization in prepathological tissues. Specifically, we will focus on premalignant lesions in human colon due to their clinical relevance. Colonic adenoma, the potential precursor of malignant adenocarcinoma, provokes significant structural modifications in colon mucosa that affect light depolarization. The depolarizing properties of normal and adenomatous polyps mucosa are compared. The average linear degree of polarization is shown to present a strong dependence with the precancerous state of the colonic tissue. This method has the potential to enable an early diagnosis of colon cancer.

  6. Large extent of disorder in Adenomatous Polyposis Coli offers a strategy to guard Wnt signalling against point mutations.

    Directory of Open Access Journals (Sweden)

    David P Minde

    Full Text Available Mutations in the central region of the signalling hub Adenomatous Polyposis Coli (APC cause colorectal tumourigenesis. The structure of this region remained unknown. Here, we characterise the Mutation Cluster Region in APC (APC-MCR as intrinsically disordered and propose a model how this structural feature may contribute to regulation of Wnt signalling by phosphorylation. APC-MCR was susceptible to proteolysis, lacked α-helical secondary structure and did not display thermal unfolding transition. It displayed an extended conformation in size exclusion chromatography and was accessible for phosphorylation by CK1ε in vitro. The length of disordered regions in APC increases with species complexity, from C. elegans to H. sapiens. We speculate that the large disordered region harbouring phosphorylation sites could be a successful strategy to stabilise tight regulation of Wnt signalling against single missense mutations.

  7. FOXL2 gene mutations and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): a novel mutation detected in a Chinese family and a statistic model for summarizing previous reported records.

    Science.gov (United States)

    Xu, Yan; Lei, Huo; Dong, Hong; Zhang, Liping; Qin, Qionglian; Gao, Jianmei; Zou, Yunlian; Yan, Xinmin

    2009-09-01

    Previous studies found that the forkhead transcription factor 2 (FOXL2) gene mutations are responsible for both types of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) but have not established any systematic statistic model for the complex and even contradictory results about genotype-phenotype correlations between them. This study is aimed to find possible mutations of FOXL2 gene in a Chinese family with type II BPES by using DNA sequencing and to further clarify genotype-phenotype correlations between FOXL2 mutations and BPES by using a systematic statistical method, namely Multifactor Dimensionality Reduction (MDR). A novel mutation (g.933_965dup) which could result in an expansion of the polyalanine (polyAla) tract was detected in all patients of this family. MDR analysis for intragenic mutations of FOXL2 gene reported in previous BPES studies indicated that the mutations which led to much stronger disturbance of amino acid sequence were responsible for more type I BPES, while other kinds of mutation were responsible for more type II BPES. In conclusion, the present study found a novel FOXL2 gene mutation in a Chinese BPES family and a new general genotype-phenotype correlation tendency between FOXL2 intragenic mutations and BPES, both of which expanded the knowledge about FOXL2 gene and BPES.

  8. Daniel and His Chinese Family

    Institute of Scientific and Technical Information of China (English)

    1998-01-01

    DanielandHisChineseFamilyBySUNDANPINGEARTHDaywascelebratedbesidethebeautifulLiang-maRiverintheeasternsuburbsofBeijinginlateSe...

  9. Business Versus the Chinese Family

    Institute of Scientific and Technical Information of China (English)

    1994-01-01

    BusinessVersustheChineseFamily¥ZHAOFANGByZHAOFANGInmanywealthyChinesefamilies,successinthebusinessworldhascomeattheexpenseoff...

  10. 论家庭教育立法对中国父母角色的影响%Influence of Family Education Legislation on the Role of Chinese Parents

    Institute of Scientific and Technical Information of China (English)

    陈伟

    2014-01-01

    Family education is the subject of much concern at all times and in all countries. Especially in the last few years, China is preparing to put it into legislation. It reflects the importance of the development of family education on the growth of children and the state. According to the relevant problems of family education in China, Chinese parents should change their ideas about their roles in family, combined with the formulation of national policy direction and the existing academic literature, it is important for the parents to aware the importance of their roles in family education.%家庭教育是古今中外备受关注的话题,特别是近几年中国正筹备将家庭教育立法,更体现了家庭教育对孩子成长和国家发展的重要性。本文针对当前中国现实生活中有关家庭教育问题的案例,提出了中国父母的角色亟待转变的观点,并结合国家政策方针的制定方向和已有的学术文献进一步强调家庭教育中父母角色的重要性。

  11. Families and family therapy in Hong Kong.

    Science.gov (United States)

    Tse, Samson; Ng, Roger M K; Tonsing, Kareen N; Ran, Maosheng

    2012-04-01

    Family therapy views humans not as separate entities, but as embedded in a network of relationships, highlighting the reciprocal influences of one's behaviours on one another. This article gives an overview of family demographics and the implementation of family therapy in Hong Kong. We start with a review of the family demographics in Hong Kong and brief notes on families in mainland China. Demographics show that the landscape has changed markedly in the past decade, with more cross-border marriages, an increased divorce rate, and an ageing overall population - all of which could mean that there is increasing demand for professional family therapy interventions. However, only a limited number of professionals are practising the systems-based approach in Hong Kong. Some possible reasons as to why family therapy is not well disseminated and practised are discussed. These reasons include a lack of mental health policy to support family therapy, a lack of systematic family therapy training, and a shortage of skilled professionals. Furthermore, challenges in applying the western model in Chinese culture are also outlined. We conclude that more future research is warranted to investigate how family therapy can be adapted for Chinese families.

  12. A family-based study of the association between the G72/G30 genes and schizophrenia in the Chinese population

    Institute of Scientific and Technical Information of China (English)

    FanggengZou; ChaoLi; ShiweiDuan; YonglanZheng; NiufanGu; GuoyinFeng; YanglingXing; JianguoShi; LinHe

    2005-01-01

    Studies have shown a strong positive association between schizophrenia and G72/G30, demonstrated by both individual markers and haplotypes. A further functional study also supports the role of G72 in the etiology of schizophrenia. In this study,we have replicated these results of transmission/disequilibrium testing (TDT) and haplotype analysis in the Han Chinese population, showing P values of 0.0018 and 0.00007 for individual markers and haplotypes, respectively. Hence, our datasupports the hypothesis that G72/G30 are important candidate genes for explaining schizophrenia in the Han Chinese population.

  13. 由“国美事件”对中国家族式企业管理文化的反思%Rethink of the Chinese Family Enterprise Management Culture from the "Guomei Event"

    Institute of Scientific and Technical Information of China (English)

    张哲

    2011-01-01

    The " Guomei event " is a typical event in the development of Chinese family enterprise.It reflects the contradictions and conflicts between the traditional management of the family enterprise culture and the modern enterprise management culture,and exposes the characteristics of China s traditional management culture of family enterprise and some existing drawbacks.To develop family enterprises healthily and sustainably must reconstruct corporate culture to achieve the cultural innovation in the management.%国美事件是中国家族式企业发展中的一个具有典型意义的事件。国美事件的发生反映了传统家族企业管理文化与现代企业管理文化的矛盾和冲突,揭示了我国传统家族企业管理文化的特征及其存在的种种弊端。家族企业健康、可持续发展必须重构企业文化,实现管理文化创新。

  14. The Study on Inheritance Model of Chinese Family Business in Growth stage%关于我国成长期家族企业传承模式的探讨

    Institute of Scientific and Technical Information of China (English)

    尤春智

    2015-01-01

    This paper is based on the related theories of corporate life cycles and discusses the inheritance model of Chinese family business which is in growth stage. By analyzing the mechanism of family business in growth stage, this paper puts forward that family business in growth stage should choose the inheritance model that “succeeding to father's chairmanship”is in main position and recruiting the good professional managers to grasp the management in a secondary position. The combination of “succeeding to father's chairmanship” and recruiting the good professional managers is the most reasonable choice for family business in growth stage. This model can help family business in growth stage transition to maturity and realize the sustainable development of family business.%以企业生命周期相关理论为基础,针对成长期家族企业的传承模式进行研究。通过对家族企业成长期的阶段性特征分析,提出成长期家族企业应当选择以“子承父业”为主、初步引入职业经理人经营管理的传承模式。“子承父业”和初步引入职业经理人有机结合,可以被看作成长期家族企业传承模式比较合理的选择,可以帮助成长期家族企业成功过渡到成熟期,实现家族企业的可持续发展。

  15. Reliability and Validity of the Chinese Version Family Care-giving Competence scale for the Elderly%中文版老年患者家庭照护能力量表的信效度研究

    Institute of Scientific and Technical Information of China (English)

    靳修; 芦鸿雁; 禹晓琴

    2016-01-01

    目的 检验中文版老年患者家庭照护能力量表的信度和效度. 方法 选取于2014年1—3月入住宁夏回族自治区某三级甲等医院的高龄患者316例, 并以1:1的比例纳入其家庭照护者. 采用修订的中文版老年患者家庭照护能力量表对纳入患者及其家庭照护者进行调查, 并进行量表的信度和效度检验. 结果 修订的中文版老年患者家庭照护能力量表包括家庭照护认知能力、 家庭凝聚力、 家庭支援能力共3个维度, 10个条目. 量表的内容效度指数( CVI) 为0.83, 条目的内容效度指数 ( I-CVI) 为0.84; 共析出3个公因子, 总贡献率为76.01%, 各条目对相应公因子的载荷值为0.501~0.803; 量表中家庭照护认知能力维度与家庭凝聚力维度 ( r=0.348, P<0.01)、 家庭照护认知能力维度与家庭支援能力维度 (r =0.236, P<0.01)、 家庭凝聚力维度与家庭支援能力维度 (r=0.222, P<0.01)均呈正相关, 且3个维度与量表总分间均呈正相关 (r值分别为0.789、 0.686、 0.654, P<0.01). 量表的Cronbach′sα系数为0.780, 各维度Cronbach′sα系数为0.780~0.804; 重测信度为0.665~0.768; 分半信度为0.745~0.890. 结论 中文版老年患者家庭照护能力量表具有良好的信效度, 可用于对老年患者家庭照护能力的测评.%Objective To test the reliability and validity of Chinese version family care -giving competence scale for the elderly.Methods We enrolled 316 patients of advanced age who were admitted into a class A grade three hospital in Ningxia Hui Autonomous Region from January to March in 2014.With a ratio of 1:1, we included the same number of family caregivers.Using the revised Chinese version family care -giving competence scale for the elderly , we conducted survey on included patients and their family caregivers .And the test on the reliability and validity of the scale was conducted .Results The revised Chinese version of family care -giving competence

  16. 浅谈家庭社会工作多元理论对婚姻危机的介入问题%The Intervention of Family Social Work to the Chinese Marital Crisis

    Institute of Scientific and Technical Information of China (English)

    赵佳丽

    2011-01-01

    Each society pays attention to the process of marriage and the establishment of a new family. Due to environ- mental factors and the impact of both spouses, it leads to a series of marital crisis like simplicity, vulnerability, confusion and danger in the family production, evolution, development, which reflects the family sociology of the family life cycle theory, family systems theory, social conflict theory and humanistic theories. For the marital problems, under the guidance of these theories, using the general methods of family social work such as the case work, group work, community work and family therapy get involved in marriage to dissolve the marital crisis of Chinese society and develop every family. Thus the family will effectively play the positive function and construct a socialist harmonious society .%每个社会都重视婚姻的过程及一个新家庭的建立。在家庭产生、演变、发展的进程中,由于受环境和夫妻双方因素的影响,伴随着婚姻关系简单、脆弱、混乱和危险等一系列的婚姻危机.这些现象和问题可以用家庭社会学的家庭社会学的家庭生命周期理论、家庭系统理论、社会冲突理论和人本主义理论来解释和回答。针对婚姻问题,在这些理论的指导下,运用家庭社会工作的一般方法。即个案工作法、小组工作法、社区工作法和家庭治疗,介入到家庭婚姻生活中去.化解中国社会的婚姻危机.促进每个家庭的发展,从而有效发挥家庭对社会的正向功能,构建社会主义和谐社会。

  17. Preliminary Study on reliability and validity of the Chinese Version of the Family Assessment Device%中文版家庭功能评定量表的信度效度初步研究

    Institute of Scientific and Technical Information of China (English)

    王雪云; 李业平

    2016-01-01

    Objective To research the reliability and validity of Family Assessment Device(FAD)in the Chinese college students. Methods A sample of 312 Chinese college students were employed to finish the Chinese version of FAD. The Cronbach's alpha coefficient and split-half reliability were used to test the reliability of the scale. The content validity, construct validation and discriminant validity were used to test the validity of the scale. Result The Cronbach's alpha coefficient of the Chinese version of FAD was 0.860, the split-half reliability was 0.810 and the reliability of behavior control dimension was lower than other dimension. There were significant differences among the various dimension, there were significant differences between high and low groups. Conclusion The Family Assessment Device has high reliability, good content validity and construct validity.%目的:研究家庭功能评定量表(FAD)在中国大学生家庭中的信度和效度.方法:用中文版家庭功能评定量表对312位在校大学生进行施测,采用Cronbach's系数、分半信度对量表的信度进行检测,用内容效度、结构效度、区分效度对量表的效度进行检测.结果:中文版家庭功能评定量表的Cronbach's系数为0.860,分半信度为0.810,行为控制这一维度的信度偏低.各维度间的相关均有统计学意义,高分组与低分组间存在显著差异.结论:家庭功能评定量表具有较高的信度,较好的内容效度和结构效度.

  18. The effect of psychological capital between work-family conflict and job burnout in Chinese university teachers: Testing for mediation and moderation.

    Science.gov (United States)

    Pu, Jun; Hou, Hanpo; Ma, Ruiyang; Sang, Jinyan

    2016-03-29

    In this study, we investigated the relationship between work-family conflict and job burnout as well as the potential mediation/moderation effects of psychological capital. Participants were 357 university teachers who completed a questionnaire packet containing a work-family conflict scale, psychological capital questionnaire, and Maslach Burnout Inventory-General survey. According to the results, work-family conflict and psychological capital were both significantly correlated with job burnout. In addition, psychological capital cannot mediate-but can moderate-the relationship between work-family conflict and job burnout. Taken together, our findings shed light on the psychological capital underlying the association of work-family conflict and job burnout.

  19. Effects of cumene hydroperoxide on adenosine diphosphate ribosyl transferase in mononuclear leukocytes of patients with adenomatous polyps in the colon.

    Science.gov (United States)

    Markowitz, M M; Johnson, D B; Pero, R W; Winawer, S J; Miller, D G

    1988-03-01

    We have studied the effects of plasma and of cumene hydroperoxide (CUM) on adenosine diphosphate ribosyl transferase (ADPRT) from mononuclear leukocytes (HML) of patients with colonic adenomatous polyps (n = 22), with colonic hyperplastic polyps (n = 5) and with neither type of polyp (controls) (n = 6). ADPRT was measured after incubation of HML with plasma alone (termed the plasma value), and with plasma plus CUM (50 microM) (the activated value); the difference elicited by CUM was termed the induced value. There was no significant difference in values between the control and hyperplastic polyp groups: these were combined for further analysis. The plasma (P = 0.038), activated (P = 0.009) and induced (P = 0.0024) values of the combined group all differed significantly from those of the adenoma group. At low exposures, CUM stimulated both ADPRT and unscheduled DNA synthesis and, at higher exposures, inactivated both. Pretreatment of HML with vitamin E protected against these effects of CUM, while pretreatment with diamide (which depletes GSH) accentuated the effects. This study demonstrates a differential reaction of ADPRT in patients harboring colonic adenomas and suggests that the origin of this difference may lie in cellular responses to oxidative stress.

  20. Thyroid