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Sample records for chinese familial adenomatous

  1. 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 polyposisis a long step forward, and several problems may be solved by increasing international cooperation.......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...... frequent occurrence of premalignant duodenal adenomas. The prognosis is good after prophylactic colectomy in patients without carcinoma. All first degree relatives of affected family members should be examined regularly with proctosigmoidoscopy from the age of ten, and prophylaxis should be organised using...

  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.......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...... frequent occurrence of premalignant duodenal adenomas. The prognosis is good after prophylactic colectomy in patients without carcinoma. All first degree relatives of affected family members should be examined regularly with proctosigmoidoscopy from the age of ten, and prophylaxis should be organised using...

  3. 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

  4. 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....

  5. 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.

  6. The Pancreas in Familial Adenomatous Polyposis

    Directory of Open Access Journals (Sweden)

    Alaa Elkharwily

    2008-01-01

    Full Text Available Familial adenomatous polyposis is an archetypal disease illustrating the genetic basis of human cancer. The adenomatouspolyposis coli gene functions as a tumor suppressor with hundreds of known mutations that result in a defective adenomatous polyposis coli protein. In addition to the certain fate of colon cancer without colectomy, patients with familialadenomatous polyposis are also at increased risk for other types of neoplasms, including those which affect the pancreas. This review focuses on periampullary and ampullary tumors, benign and malignant pancreatic neoplasms that are associated with familial adenomatous polyposis and Gardner syndrome and pancreatitis in these patients. An individualized surveillance regimen is suggested which for certain patients could include endoscopic ultrasound.

  7. Chemoprevention of familial adenomatous polyposis.

    Science.gov (United States)

    Lynch, Patrick M

    2016-07-01

    Familial adenomatous polyposis (FAP) has always been first and foremost a surgical disease, whose treatment with colectomy has long been known to reduce risk of premature cancer death. The notion of reducing polyp burden and potentially delaying surgical intervention has spawned a host of "chemoprevention" trials. In this paper I selectively review the findings from these studies, highlighting trial design issues and in particular some of the limitations of historical and existing trial endpoint measures. Nonsteroidal anti-inflammatory agents have been the most commonly employed chemopreventive agents. Sulindac, largely by historical accident, has been the most extensively studied, and is widely considered the standard of care when a clinical decision to intervene medically is made. Newer trials are evaluating combinations of agents in order to take advantage of differing mechanisms of action, in the hope of achieving synergy, as no single agent predictably or completely suppresses adenoma growth. Some of these studies and other single-agent interventions are discussed, though an exploration of the various mechanisms of action is beyond the scope of this paper. It is essential that future trials focus on the issue of "clinical benefit", not simply because the US Food and Drug Administration has insisted on it, but because only real evidence-based advances can improve the standard of medical care for FAP patients. Hence my focus on issues of trial design and clinically relevant endpoints. PMID:27083160

  8. The Pancreas in Familial Adenomatous Polyposis

    OpenAIRE

    Alaa Elkharwily; Klaus Gottlieb

    2008-01-01

    Familial adenomatous polyposis is an archetypal disease illustrating the genetic basis of human cancer. The adenomatouspolyposis coli gene functions as a tumor suppressor with hundreds of known mutations that result in a defective adenomatous polyposis coli protein. In addition to the certain fate of colon cancer without colectomy, patients with familialadenomatous polyposis are also at increased risk for other types of neoplasms, including those which affect the pancreas. This review focuses...

  9. Desmoid tumours in familial adenomatous polyposis.

    OpenAIRE

    Gurbuz, A K; Giardiello, F.M.; Petersen, G M; Krush, A J; Offerhaus, G. J.; Booker, S V; Kerr, M.C.; Hamilton, S R

    1994-01-01

    Desmoids are rare, benign fibromatous lesions, which can arise in patients with familial adenomatous polyposis (FAP), a disorder caused by germline adenomatous polyposis coli (APC) gene mutation. This study investigated the risk of desmoids in FAP, the relation between specific APC gene mutations and desmoid formation, and the clinical characteristics of FAP patients with desmoids. Eighty three of 825 FAP patients (10%) from 49 of 161 kindreds (30%) had desmoids. The absolute risk of desmoids...

  10. Surgical treatment in familial adenomatous polyposis

    OpenAIRE

    Tudyka, Vera N.; Clark, Susan K.

    2012-01-01

    Familial adenomatous polyposis (FAP) is a dominantly inherited condition caused by germline mutation of the APC gene resulting in formation of numerous large bowel adenomas in late childhood or adolescence. Unless these are removed, colorectal cancer inevitably develops. Prophylactic surgical treatment is required to prevent this. In surgical decision making, considerations should include genotype-phenotype correlation, perioperative morbidity and risk of impaired sexual and reproductive func...

  11. 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 du...... 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....

  12. 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.

  13. Rare combination of familial adenomatous polyposis and gallbladder polyps

    OpenAIRE

    MORI, YASUHISA; Sato, Norihiro; Matayoshi, Nobutaka; Tamura, Toshihisa; Minagawa, Noritaka; Shibao, Kazunori; Higure, Aiichiro; Nakamoto, Mitsuhiro; Taguchi, Masashi; Yamaguchi, Koji

    2014-01-01

    Familial adenomatous polyposis is associated with a high incidence of malignancies in the upper gastrointestinal tract (particularly ampullary adenocarcinomas). However, few reports have described a correlation between familial adenomatous polyposis and gallbladder neoplasms. We present a case of a 60-year-old woman with familial adenomatous polyposis who presented with an elevated mass in the neck of the gallbladder (measuring 16 mm × 8 mm in diameter) and multiple small cholecystic polyps. ...

  14. 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...

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

    OpenAIRE

    Perea del Pozo, E.; Ramirez Plaza, C.; J. Padillo Ruiz; J.M. Martos Martínez

    2015-01-01

    Background: Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome characterised by the progressive development of multiple colorectal adenomatous polyps and an increased incidence of colorectal carcinoma. It is often accompanied by other benign or malignant extracolonic manifestations, including gastric and duodenal tumours, osteomas, desmoid tumours, retinal pigmentation, and thyroid and adrenocortical tumours Methods and results: We report the case ...

  16. Results of national registration of familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen

    2003-01-01

    BACKGROUND AND AIMS: The Danish Polyposis Register was established in 1971 with the aim of improving the poor prognosis of familial adenomatous polyposis (FAP), and in 1975 the register became national. The aim of the present study was to evaluate the prevalence of colorectal cancer and survival ...

  17. Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma

    OpenAIRE

    Trimbath, J.D.; Griffin, C; Romans, K; Giardiello, F M

    2003-01-01

    The risk of periampullary cancer in patients with classic familial adenomatous polyposis (FAP) is significantly increased compared with the general population. However, the incidence of this extracolonic manifestation in attenuated FAP (AFAP) is unknown. We report the case of a 38 year old woman with no known family history of polyposis or colorectal cancer, who presented with ampullary adenocarcinoma. Diagnosis of AFAP was made only after evaluation of the patient’s extended family history a...

  18. Age and manifestation related symptoms in familial adenomatous polyposis

    OpenAIRE

    Hohenberger Werner; Reingruber Bertram; Brueckl Wolfgang M; Croner Roland S; Guenther Klaus

    2005-01-01

    Abstract Background To identify early symptoms of familial adenomatous polyposis with a view to improve early diagnosis and treatment. Diagnosis on the basis of genetic testing is usually limited to where there is a known family history, so FAP is more usually diagnosed on clinical grounds. Except for those identified via FAP registers, the majority of patients are symptomatic at the time of diagnosis. Methods We undertook a retrospective study of 143 FAP patients treated at the Department of...

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

    DEFF Research Database (Denmark)

    Vasen, H.F.; Moslein, G.; Alonso, A.; Aretz, S.; Bernstein, I.; Bertario, L.; Blanco, I.; Bulow, S.; Burn, J.; Capella, G.; Colas, C.; Engel, C.; Frayling, I.; Friedl, W.; Hes, F.J.; Hodgson, S.; Jarvinen, H.; Mecklin, J.P.; Moller, P.; Myrhoi, T.; Nagengast, F.M.; Parc, Y.; Phillips, R.; Clark, S.K.; Leon, M.P. de; Renkonen-Sinisalo, L.; Sampson, J.R.; Stormorken, A.; Tejpar, S.; Thomas, H.J.; Wijnen, J.; Vasen, H F A; Möslein, G; Alonso, A; Aretz, S; Bernstein, Inge Thomsen; Bertario, L; Blanco, I; Bülow, Steffen; Burn, J; Capella, G; Colas, C; Engel, C; Frayling, I; Friedl, W; Hes, F J; Hodgson, S; Järvinen, H; Mecklin, J-P; Møller, P; Myrhøi, T; Nagensgast, F M; Parc, Y; Phillips, R; Clark, S K; Ponz de Leon, M; Renkonen-Sinisalo, L; Sampson, J R; Stormorken, A; Tejpar, S; Thomas, H J W; Wijnen, J

    2008-01-01

    BACKGROUND: Familial adenomatous polyposis (FAP) is a well-described inherited syndrome, which is responsible for <1% of all colorectal cancer (CRC) cases. The syndrome is characterised by the development of hundreds to thousands of adenomas in the colorectum. Almost all patients will develop CRC...... typical FAP. The gene 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...

  20. 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...... considered to be correlated with the development and growth of DT. In patients with FAP, 50% of the tumours are localised intra-abdominally, and 85-100% of these are mesenteric. DT frequently present as non- tender, slowly growing masses. The symptoms are abdominal pain, vomiting, diarrhoea or haematochezia....... Mesenteric DT can cause small bowel obstruction or ischaemia, hydronephrosis or form fistulas. Diagnosis is obtained through biopsy and the extension is determined by a CT-scan. Surgical excision is recommended in patients with DT in the abdominal wall. First line treatment of mesenteric DT is a NSAID in...

  1. Clinicopathological features of familial adenomatous polyposis in Korean patients

    Science.gov (United States)

    Jung, Sung Min; Yoon, Yong Sik; Lim, Seok-Byeong; Yu, Chang Sik; Kim, Jin Cheon

    2016-01-01

    AIM: To identify prognostic factors and to correlate APC mutations with clinical features, including extracolic manifestations. METHODS: One hundred thirty-five patients who underwent surgical procedures for familial adenomatous polyposis (FAP) were included. FAP was diagnosed when the number of adenomatous polyps was > 100. Data related to patient, extracoloic manifestations, cancer characteristics, operative procedure, follow up and surveillance were collected. APC mutation testing was performed in the 30 most recent patients. DNA was extracted from peripheral blood and polymerase chain reaction products using 31 primer pairs on APC gene were sequenced. A retrospective study was performed to investigate a causal relationship between prognosis and feature of patient. RESULTS: The mean age of the 51 patients with colorectal cancer (CRC) was older than that of those without CRC (30.5 vs 36.9, P = 0.002). Older individuals were more likely to have colon cancer at the time of FAP diagnosis [odds ratio, 4.75 (95%CI: 1.71-13.89) and 5.91(1.76-22.12) for 40-49 years and age > 50 vs age < 30). The number of confirmed deaths was 13 and the median age at death was 40 years (range, 27 to 85 years). Ten of the deaths (76.9%) were from CRC. Another cause of two cases of death were desmoid tumors (15.4%). Development of cancer on remnant rectal or ileal mucosa after surgery was not observed. The APC mutation testing revealed 23 pathogenic mutations and one likely pathogenic mutation, among which were four novel mutations. The correlation between mutational status and clinical manifestations was investigated. Mutations that could prodict poor prognosis were at codon 1309 which located on mutation cluster region, codon 1465 and codon 1507. CONCLUSION: Identification of APC mutations should aid in the diagnosis and counseling of family members in terms of early diagnosis and management of FAP. PMID:27158207

  2. Age and manifestation related symptoms in familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    Hohenberger Werner

    2005-03-01

    Full Text Available Abstract Background To identify early symptoms of familial adenomatous polyposis with a view to improve early diagnosis and treatment. Diagnosis on the basis of genetic testing is usually limited to where there is a known family history, so FAP is more usually diagnosed on clinical grounds. Except for those identified via FAP registers, the majority of patients are symptomatic at the time of diagnosis. Methods We undertook a retrospective study of 143 FAP patients treated at the Department of Surgery, University of Erlangen between 1971 and 2000. We identified patterns of symptoms, endoscopic findings and extracolonic manifestations in three age groups. Results FAP was diagnosed clinically on the basis of symptoms in 84% (120/143 of these patients. Most presented with intestinal symptoms such as colonic bleeding (68% and diarrhea (42%. All but one of the patients between 20 and 40 years old had rectal polyps (98.7%, 75/76, whereas in those over 40 years old the prevalence was 76% (35/46. Non-specific symptoms such as abdominal pain, fatigue and bloating were less frequent and were mainly reported by patients older than 40. Conclusion The commonest presenting features of FAP are alteration of bowel habit and rectal bleeding, but both are found in many other conditions. Patients with these findings need immediate endoscopy to allow prompt diagnosis and prophylactic surgery.

  3. Variation of a variation: Case report of attenuated familial adenomatous polyposis

    OpenAIRE

    Bhatnagar, P; Tetzlaff, H.; Izatt, L; Devlin, J; Heaton, N. D.

    2006-01-01

    Background. First described in 1988, attenuated familial adenomatous polyposis (AFAP) is a rare autosomal dominant precancerous condition of the gastrointestinal tract. Few reports have described adenocarcinomatous change in the gastroduodenal region thus far. Case outlineWe report a case of AFAP presenting with extensive gastric polyposis and ampullary adenocarcinoma in absence of a positive family history of gastrointestinal cancer and a novel mutation.

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

    DEFF Research Database (Denmark)

    Knudsen, A L; Bülow, S; Tomlinson, I; Möslein, G; Heinimann, K; Christensen, I J

    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...

  5. 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

  6. Controversies in the surgery of patients with familial adenomatous polyposis and Lynch syndrome.

    Science.gov (United States)

    Church, James M

    2016-07-01

    Dominantly inherited syndromes of colorectal cancer predisposition are characterized by multifocal neoplasia with an early age of onset. The risk of colorectal cancer is high in affected patients and care of the patients is based on the aims of cancer prevention and cancer cure. At the same time, quality of life should be disturbed as little as possible. Because patients are generally young, the stakes are high. Injudicious decision-making can have unfortunate effects on patients and families. In this article the controversial aspects of surgery in familial adenomatous polyposis and Lynch syndrome are discussed. Specifically the controversies in familial adenomatous polyposis include the timing and the type of surgery while for Lynch syndrome discussion revolves about prophylactic surgery, primary, secondary and tertiary. PMID:26869170

  7. Subsequent Adenomas of Ileal Pouch and Anorectal Segment after Prophylactic Surgery for Familial Adenomatous Polyposis

    OpenAIRE

    M'Koma, A.E.; Herline, A.J.; Adunyah, S.E.

    2013-01-01

    Familial adenomatous polyposis (FAP) is an autosomally dominant disease characterized by the early development of colorectal adenomas and carcinoma in untreated patients. Patients with FAP may develop rectal cancer at their initial presentation (primary) or after prophylactic surgery (secondary). Controversies exist regarding which surgical procedure represents the best first-line treatment. The options for FAP are ileorectal anastomosis (IRA) or a restorative proctocolectomy (RPC) with eithe...

  8. 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.

  9. 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

  10. Pigmented mesenteric lymphadenopathy in familial adenomatous polyposis - an unusual cause of intraoperative abandonment of ileo-anal pouch.

    OpenAIRE

    Pranesh, N; Haboubi, N Y; O'Dwyer, S T

    2005-01-01

    Familial adenomatous polyposis (FAP) is an autosomal dominant condition with near complete penetrance, characterised by the presence of numerous adenomatous polyps of the colon and rectum. Melanosis coli describes the brownish-black discolouration of the colon resulting from the accumulation of a granular pigment in the phagosomes of macrophages in the colonic lamina propria. The presence of melanosis pigment in pericolonic lymph nodes has been reported in patients with coincidental melanosis...

  11. Familial Adenomatous Polyposis in Three Generations of a Single Family: A Case Study

    Directory of Open Access Journals (Sweden)

    Jure Murgic

    2014-05-01

    Full Text Available Background: Familial adenomatous polyposis (FAP is an autosomal dominantly inherited syndrome characterized by the development of numerous polyps in the colon and rectum. If left untreated, the affected patients inevitably develop colon cancer by the age of 40 years. A resection of the colon (colectomy or of the colon and rectum (proctocolectomy is needed to minimize the risk of cancer. Case Presentation: We report a case of FAP through three generations of a single family, in which the grandmother and granddaughter underwent total colectomy with ileoanal anastomosis and did not develop colon cancer, while the son underwent subtotal colectomy with ileorectal anastomosis and developed recurrent rectal cancer. Data regarding timely surgery, surveillance, and chemoprevention are discussed. Conclusion: The FAP phenotype determines the type of treatment. In severe polyposis, proctocolectomy with ileoanal anastomosis seems to be the optimal method for minimizing the risk of cancer development. This case report advocates complete rectal removal, especially in cases of poor patient compliance with colonoscopic surveillance.

  12. Familiær adenomatøs polypose

    DEFF Research Database (Denmark)

    Bülow, Steffen

    2013-01-01

    identification of gene carriers by DNA analysis or endoscopy the prognosis is good after early colectomy, but life-long surveillance of the rectum and the duodenum is necessary. The Danish Polyposis Register coordinates prophylactic examination and treatment in the families, and serves as basis for research....

  13. [Familial adenomatous polyposis: establishing a registry and genetic and molecular analysis].

    Science.gov (United States)

    Shomrat, R; Bruchim, R; Galanty, Y; Samuel, Z; Legum, C; Rabau, M; Rozen, P

    1997-01-15

    Familial adenomatous polyposis (FAP), a dominantly inherited disease, is caused by a mutation in the adenomatous polyposis coli gene in chromosome 5q21. The gene has 15 exons, a physical length of 10 Kb and an open reading frame of 8.5 Kb. Exon 15 codes 66% of the mRNA and has a mutation cluster region which accounts for over 50% of mutations. The disease usually leads to the appearance of hundreds of adenomatous polyps in the transverse and descending colon between puberty and age 20 years and to colon cancer before the age of 40. Early detection is essential to prevent the development of metastasizing cancer. Since 1994 we have recruited 23 families for genetic counseling. DNA was obtained from 19 unrelated FAP patients and 219 high risk relatives in 19 unrelated families following confirmation of the diagnosis. In addition to linkage studies, direct mutational analysis was performed using the protein truncation test for most of exon 15 and single strand conformation polymorphism analysis for the other exons. These exons account for most of the mutations identified to date. Of 19 unrelated probands, 14 had detectable mutations. Exon 15 accounted for 6 families, exons 5, 7 and 14 for 1 each, exon 9 for 3, and exon 8 for 2. Combined mutational and linkage analysis identified 18 presymptomatic carriers who received genetic and clinical counseling. Our FAP patients did not differ significantly from those of larger studies in other countries with regard to the distribution of the mutations, gender and genotype-phenotype correlation, or ethnic distribution. PMID:9119305

  14. Genetic basis of hereditary colorectal cancers: Hereditary nonpolyposis colorectal cancer and Familial adenomatous polyposis

    OpenAIRE

    Renkonen, Elise

    2006-01-01

    Hereditary nonpolyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP) are characterized by a high risk and early onset of colorectal cancer (CRC). HNPCC is due to a germline mutation in one of the following MMR genes: MLH1, MSH2, MSH6 and PMS2. A majority of FAP and attenuated FAP (AFAP) cases are due to germline mutations of APC, causing the development of multiple colorectal polyps. To date, over 450 MMR gene mutations and over 800 APC mutations have been identified. Mo...

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

    International Nuclear Information System (INIS)

    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. 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). 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. Screening for APC mutations in FAP patients should include testing for splicing defects and gross genomic alterations

  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

    develop colorectal cancer, but the lifetime risk of upper gastrointestinal cancer is lower, estimated at approximately 5%. Management of the upper gastrointestinal cancer risk is one of the greatest challenges facing clinicians involved in the care of Polyposis families, and with improved survival......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 predictably...... 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...

  17. The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis.

    Science.gov (United States)

    Duncan, Rony E; Gillam, Lynn; Savulescu, Julian; Williamson, Robert; Rogers, John G; Delatycki, Martin B

    2010-03-01

    Predictive genetic tests for familial adenomatous polyposis (FAP) are routinely offered to young people during early adolescence. While this is not controversial, due to the medical benefit conferred by the test, it is nonetheless challenging as a consequence of the stage of life of the young people, and the simultaneous involvement of multiple family members. Despite these challenges, it is possible to ensure that the test is offered in such a way that it actively acknowledges and facilitates young people's developing autonomy and psychosocial well-being. In this paper we present findings from ten in-depth interviews with young people who have undergone predictive genetic testing for FAP (four male, six female; five gene-positive, five gene-negative; aged 10-17 years at the time of their predictive test; aged 12-25 years at the time of their research interview). We present five themes that emerged from the interviews which highlight key ethical challenges associated with such testing. These are: (1) the significance of the test; (2) young people's lack of involvement in the decision to be tested; (3) young people's limited understanding; (4) provision of the blood test at the first visit; and (5) group testing of family members. We draw on these themes to make eight recommendations for future practice. Together, these recommendations highlight the importance of providing developmentally appropriate care to young people undergoing predictive genetic testing for FAP. PMID:19760114

  18. Dietary Putrescine Reduces the Anticarcinogenic Intestinal Activity of Sulindac in a Murine Model of Familial Adenomatous Polyposis

    OpenAIRE

    Ignatenko, Natalia A.; Besselsen, David G; Basu Roy, Upal K.; Stringer, David E.; Blohm-Mangone, Karen A.; Padilla-Torres, Jose L.; Guillen-R, Jose M.; Gerner, Eugene W.

    2006-01-01

    The nonsteroidal antiinflammatory drug sulindac displays chemopreventive activity in patients with familial adenomatous polyposis (FAP). Sulindac metabolites induce apoptosis in colon tumor cells, in part, by a polyamine-dependent mechanism that can be suppressed with exogenous putrescine. To determine the relevance of this mechanism in animals, we treated ApcMin/+ mice, a model of human FAP, with sulindac alone or in combination with dietary putrescine. Sulindac increased steady-state RNA le...

  19. Colonic Crypt Changes during Adenoma Development in Familial Adenomatous Polyposis : Immunohistochemical Evidence for Expansion of the Crypt Base Cell Population

    OpenAIRE

    Boman, Bruce M; Walters, Rhonda; Fields, Jeremy Z.; Kovatich, Albert J.; Zhang, Tao; Isenberg, Gerald A.; Goldstein, Scott D.; Palazzo, Juan P.

    2004-01-01

    Familial adenomatous polyposis patients, who have a germline APC mutation, develop adenomas in normal-appearing colonic mucosa, and in the process usually acquire a mutation in the other APC allele as well. Nonetheless, the cellular mechanisms that link these initiating genetic changes with the earliest tissue changes (upward shift in the labeling index) in colon tumorigenesis are unclear. Based on the tenet that colorectal cancer originates from crypt stem cells (SCs) and on our kinetic mode...

  20. Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease.

    OpenAIRE

    Hodgson, S V; Coonar, A S; P. J. Hanson; Cottrell, S; Scriven, P N; Jones, T; Hawley, P R; Wilkinson, M L

    1993-01-01

    Two cases are reported of patients with deletions of chromosome 5q. Both have familial adenomatous polyposis (FAP) and mild mental retardation. In both, macroscopic polyposis was confined to the proximal colon in adult life (in their thirties) although microscopic adenomatosis was shown in the more distal colon with occasional single polyps. Both subjects had dermoid cysts, and congenital hypertrophy of the retinal pigment epithelium (CHRPE) was seen in case 2. Case 1 has gastroduodenal polyp...

  1. Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes.

    Science.gov (United States)

    Rashid, Mamunur; Fischer, Andrej; Wilson, Cathy H; Tiffen, Jessamy; Rust, Alistair G; Stevens, Philip; Idziaszczyk, Shelley; Maynard, Julie; Williams, Geraint T; Mustonen, Ville; Sampson, Julian R; Adams, David J

    2016-01-01

    Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) are inherited disorders associated with multiple colorectal adenomas that lead to a very high risk of colorectal cancer. The somatic mutations that drive adenoma development in these conditions have not been investigated comprehensively. In this study we performed analysis of paired colorectal adenoma and normal tissue DNA from individuals with FAP or MAP, sequencing 14 adenoma whole exomes (eight MAP, six FAP), 55 adenoma targeted exomes (33 MAP, 22 FAP) and germline DNA from each patient, and a further 63 adenomas by capillary sequencing (41 FAP, 22 MAP). With these data we examined the profile of mutated genes, the mutational signatures and the somatic mutation rates, observing significant diversity in the constellations of mutated driver genes in different adenomas, and loss-of-function mutations in WTX (9%; p < 9.99e-06), a gene implicated in regulation of the WNT pathway and p53 acetylation. These data extend our understanding of the early events in colorectal tumourigenesis in the polyposis syndromes. PMID:26414517

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

    International Nuclear Information System (INIS)

    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 has occurred as a result or not

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

    Directory of Open Access Journals (Sweden)

    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.

  4. Colonic and duodenal flat adenomas in children with classical familial adenomatous polyposis.

    Science.gov (United States)

    Cohen, Marta; Thomson, Mike; Taylor, Chris; Donatone, Jorge; Quijano, Graciela; Drut, Ricardo

    2006-04-01

    Flat adenomas of the colon and duodenum have been described as associating with familial adenomatous polyposis (FAP), its attenuated variant, and the so-called hereditary nonpolyposis colorectal cancer. There seem to be no report on the occurrence of flat adenomas in pediatric patients with family history of FAP. We are reporting 4 children from 2 cancer-prone families in whom colonic and duodenal moderately dysplastic flat adenomas were found. Gastrointestinal endoscopy and biopsies were performed in 3 female siblings (7, 9, and 11 years old) and 1 male (9 years old) when referred for screening owing to familial history of bowel cancer (family 1) or evidence of bilateral congenital hypertrophy of the retinal pigment epithelium (CHRPE), which is known to be associated with FAP (family 2). Endoscopic visualization of the mucosa was improved by use of 0.2% indigo carmine solution spray. Biopsies were routinely processed for H&E and immunohistochemistry staining. Present patients were asymptomatic, with the exception of 2 weeks rectal bleeding in 1 of them. The colonic videoendoscopy showed in 2/3 siblings hundreds of flat or slightly raised plaques less than 1 cm in diameter as well as some classic polyps throughout the colon. The other sibling showed 40 flat-topped lesions with minimal elevation and central umbilication in the cecum. Upper endoscopy demonstrated a few flat lesions in the nonperiampullary area of the duodenum in 2/4 patients. The colonic videoendoscopy performed on the 9-year-old boy revealed multiple small sessile polyps. Microscopic study demonstrated tubular adenomas with a few neoplastic crypts, slight disarray of the overall architecture, and moderate (low-grade) dysplasia of the epithelium. These features were more obvious at the center and superficial areas of the adenomas. The 4 children had multiple flat adenomas of the colon and duodenum (2/4) matching with those described in adult patients. Flat adenomas in the context of FAP probably

  5. Culture of primary epithelial adenoma cells from familial adenomatous polyposis patients

    Czech Academy of Sciences Publication Activity Database

    Fostira, F.; Apessos, A.; Oikonomou, E.; Kouklis, P.; Baratsis, S.; Manifikos, G.; Anděra, Ladislav; Yannoukakos, D.; Pintzas, A.; Nasioulas, G.

    2008-01-01

    Roč. 28, 2A (2008), s. 843-846. ISSN 0250-7005 Institutional research plan: CEZ:AV0Z50520514 Keywords : colorectal neoplasia * adenomatous polyposis coli * epithelial cells Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.390, year: 2008

  6. Endoscopic Submucosal Dissection for the Complete Resection of the Rectal Remnant Mucosa in a Patient With Familial Adenomatous Polyposis

    Science.gov (United States)

    Akiyama, Hitoshi; Suzuki, Koyu; Fujita, Yoshiyuki

    2016-01-01

    A 47-year-old woman underwent prophylactic subtotal colectomy with ileorectal anastomosis (IRA) for familial adenomatous polyposis (FAP) 18 years ago. She underwent 5 transanal endoscopic microsurgeries for rectal remnant polyps, and was referred for the treatment of rectal remnant polyp recurrence. Endoscopic submucosal dissection (ESD) was performed to remove multiple polypoid lesions that circumferentially extended throughout the rectal remnant with lesions spreading onto the anastomotic site. The rectal remnant mucosa was resected in 2 pieces without complication. Specimens showed high-grade adenoma but no malignancy. Follow-up colonoscopy showed no recurrence. PMID:27144195

  7. Familial adenomatous polyposis in pediatrics: natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing debate.

    Science.gov (United States)

    Septer, Seth; Lawson, Caitlin E; Anant, Shrikant; Attard, Thomas

    2016-07-01

    Familial adenomatous polyposis (FAP) is a hereditary condition with a near 100 % lifetime risk of colorectal cancer without prophylactic colectomy. Most patients with FAP have a mutation in the adenomatous polyposis coli gene on chromosome 5q22. This condition frequently presents in children with polyps developing most frequently in the second decade of life and surveillance colonoscopy is required starting at age ten. Polyps are found not only in the colon, but in the stomach and duodenum. Knowledge of the natural history of FAP is important as there are several extra-colonic sequelae which also require surveillance. In infants and toddlers, there is an increased risk of hepatoblastoma, while in teenagers and adults duodenal carcinomas, desmoid tumors, thyroid cancer and medulloblastoma are more common in FAP than in the general population. Current chemopreventive strategies include several medications and natural products, although to this point there is no consensus on the most efficacious and safe agent. Genetic counseling is an important part of the diagnostic process for FAP. Appropriate use and interpretation of genetic testing is best accomplished with genetic counselor involvement as many families also have concerns regarding future insurability or discrimination when faced with genetic testing. PMID:27056662

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

    International Nuclear Information System (INIS)

    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-(18F)-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.)

  9. 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

    DEFF Research Database (Denmark)

    Nilbert, Mef; Kristoffersson, Ulf; Ericsson, Mats; Johannsson, Oskar; Rambech, Eva; Mangell, Peter

    2008-01-01

    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 ...

  10. Comparison of proctocolectomy and ileal pouch-anal anastomosis to colectomy and ileorectal anastomosis in familial adenomatous polyposis.

    Science.gov (United States)

    Koskenvuo, L; Mustonen, H; Renkonen-Sinisalo, L; Järvinen, H J; Lepistö, A

    2015-06-01

    Prophylactic surgical options for familial adenomatous polyposis (FAP) are either colectomy and ileorectal anastomosis (IRA) or proctocolectomy and ileal pouch-anal anastomosis (IPAA). The aim of this study was to analyse the short-term and long-term outcomes of these two operative techniques. All patients with FAP in Finland have been prospectively recorded in a database since 1963 were retrospectively reviewed in this analysis. Altogether 140 (61%) colectomies with IRA and 88 (39%) proctocolectomies with IPAA have been performed. Complications occurred in 28 (21%) patients after IRA and in 26 (30%) patients after IPAA. There were 15 (11%) severe complications for IRA and 5 (6%) for IPAA. Twenty-one (15%) patients of the IRA group ended up in conventional ileostomy whereas 3 (3.4%) patients of the IPAA group had their ileal reservoir converted to an ileostomy (p = 0.01). Cumulative survival for IRA was lower than for the IPAA (p = 0.03), but if accounting only for operations made after the IPAA era had commenced, there was no significant difference. IPAA was associated with improved long-term survival without an increase in postoperative complications. The risk of death after colectomy and IRA seemed to be predominantly related to the remaining risk of rectal cancer. Therefore, we favour proctocolectomy with IPAA as the prophylactic surgical procedure for FAP with intermediate or severe polyposis. PMID:25504366

  11. Stability of colon stem cell methylation after neo-adjuvant therapy in a patient with attenuated familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    Shibata Darryl

    2005-06-01

    Full Text Available Abstract Background Methylation at certain human CpG rich sequences increases with age. The mechanisms underlying such age-related changes are unclear, but methylation may accumulate slowly in a clock-like manner from birth and record lifetime numbers of stem cell divisions. Alternatively, methylation may fluctuate in response to environmental stimuli. The relative stability of methylation patterns may be inferred through serial observations of the same colon. Case presentation A 22 year-old male with attenuated familial adenomatous polyposis received neo-adjuvant chemotherapy and radiation prior to surgery for rectal adenocarcinoma. Colon crypt methylation patterns before and after neo-adjuvant therapy (62 days apart were essentially identical with respect to percent methylation and diversity. Consistent with previous studies, methylation patterns recorded no evidence for enhanced colon crypt stem cell survival with a germline mutation (codon 215 proximal to the mutation cluster region of APC. Conclusion The inability of neo-adjuvant therapy to significantly alter crypt methylation patterns suggests stem cells are relatively protected from transient environmental changes. Age-related methylation appears to primarily reflect epigenetic errors in stem cells that slowly accumulate in a clock-like manner from birth. Therefore, life-long human stem cell histories are potentially written within and may be read from somatic cell epigenomes.

  12. 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. PMID:27207660

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

    OpenAIRE

    Akin, E.; Demirezer Bolat, A.; Buyukasik, S.; Algin, O.; Selvi, E; Ersoy, O.

    2012-01-01

    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...

  15. A View of the Chinese Family.

    Science.gov (United States)

    Hallman, Patsy

    1985-01-01

    Describes the current state of and the effect of new policies on Chinese families, in terms of marriage, family planning, housing, income, lifestyle, food practices, clothing, health care, education, religion, status of women, and retirement. (SK)

  16. Attenuated Familial Adenomatous Polyposis

    Science.gov (United States)

    ... procedure done in conjunction with in-vitro fertilization (IVF). It allows people who carry a specific known ... AFAP is suspected when a person has a history of more than 20, but fewer than 100, ...

  17. Familial Adenomatous Polyposis

    Science.gov (United States)

    ... the inside of a person’s colon form a mass on the inside of the intestinal tract. The ... that does not metastasize; papillary thyroid cancer ; pancreatic , adrenal , and bile duct tumors; and a type of ...

  18. Relational Incentives in Chinese Family Firms

    OpenAIRE

    Pi Jiancai

    2011-01-01

    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 t...

  19. Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome.

    Science.gov (United States)

    Agarwal, Rishi; Liebe, Sarah; Turski, Michelle L; Vidwans, Smruti J; Janku, Filip; Garrido-Laguna, Ignacio; Munoz, Javier; Schwab, Richard; Rodon, Jordi; Kurzrock, Razelle; Subbiah, Vivek

    2014-12-01

    Cancer genetics has rapidly evolved in the last two decades. Understanding and exploring the several genetic pathways in the cancer cell is the foundation of targeted therapy. Several genomic aberrations have been identified and their role in carcinogenesis is being explored. In contrast to most cancers where these mutations are acquired, patients with hereditary cancer syndromes have inherited genomic aberrations. The understanding of the molecular pathobiology in hereditary cancer syndromes has advanced dramatically. In addition, many molecularly targeted therapies have been developed that could have potential roles in the treatment of patients with hereditary cancer syndromes. In this review, we outline the presentation, molecular biology, and possible targeted therapies for two of the most widely recognized hereditary cancer syndromes -- hereditary breast and ovarian cancer syndrome and hereditary non-polyposis colorectal cancer syndrome (Lynch syndrome). We will also discuss other syndromes such as familial adenomatous polyposis and Li-Fraumeni syndrome (TP53). PMID:25549704

  20. A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Burn, John; Bishop, D Timothy; Chapman, Pamela D;

    2011-01-01

    significantly reduced polyp count in the rectum and sigmoid colon: aspirin relative risk = 0.77 (95% CI, 0.54-1.10; versus nonaspirin arms); RS relative risk = 1.05 (95% CI, 0.73-1.49; versus non-RS arms). There was a trend toward a smaller size of largest polyp in patients treated with aspirin versus......Evidence supporting aspirin and resistant starch (RS) for colorectal cancer prevention comes from epidemiologic and laboratory studies (aspirin and RS) and randomized controlled clinical trials (aspirin). Familial adenomatous polyposis (FAP) strikes young people and, untreated, confers virtually a...... 100% risk of colorectal cancer and early death. We conducted an international, multicenter, randomized, placebo-controlled trial of aspirin (600 mg/d) and/or RS (30 g/d) for from 1 to 12 years to prevent disease progression in FAP patients from 10 to 21 years of age. In a 2 × 2 factorial design...

  1. Management Innovation for Chinese Family Business

    OpenAIRE

    Li Liu; Xinde Chen

    2014-01-01

    Purpose ¨Cbased on the complicate and changeable situation in the economic field, Chinese family enterprises should rethink the strategy and innovate continually to achieve the evergreen. The purpose of this paper is to examine the advantage and disadvantage of Chinese family business and deduce several Applicable approaches for Sustainable development. Design/methodology/approach ¨CBased on a review of the relevant literature, Advantages and disadvantages are developed. Case study data are u...

  2. 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 ...

  3. 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.

  4. 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,

  5. Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

    Science.gov (United States)

    Li, Jun; Woods, Susan L; Healey, Sue; Beesley, Jonathan; Chen, Xiaoqing; Lee, Jason S; Sivakumaran, Haran; Wayte, Nicci; Nones, Katia; Waterfall, Joshua J; Pearson, John; Patch, Anne-Marie; Senz, Janine; Ferreira, Manuel A; Kaurah, Pardeep; Mackenzie, Robertson; Heravi-Moussavi, Alireza; Hansford, Samantha; Lannagan, Tamsin R M; Spurdle, Amanda B; Simpson, Peter T; da Silva, Leonard; Lakhani, Sunil R; Clouston, Andrew D; Bettington, Mark; Grimpen, Florian; Busuttil, Rita A; Di Costanzo, Natasha; Boussioutas, Alex; Jeanjean, Marie; Chong, George; Fabre, Aurélie; Olschwang, Sylviane; Faulkner, Geoffrey J; Bellos, Evangelos; Coin, Lachlan; Rioux, Kevin; Bathe, Oliver F; Wen, Xiaogang; Martin, Hilary C; Neklason, Deborah W; Davis, Sean R; Walker, Robert L; Calzone, Kathleen A; Avital, Itzhak; Heller, Theo; Koh, Christopher; Pineda, Marbin; Rudloff, Udo; Quezado, Martha; Pichurin, Pavel N; Hulick, Peter J; Weissman, Scott M; Newlin, Anna; Rubinstein, Wendy S; Sampson, Jone E; Hamman, Kelly; Goldgar, David; Poplawski, Nicola; Phillips, Kerry; Schofield, Lyn; Armstrong, Jacqueline; Kiraly-Borri, Cathy; Suthers, Graeme K; Huntsman, David G; Foulkes, William D; Carneiro, Fatima; Lindor, Noralane M; Edwards, Stacey L; French, Juliet D; Waddell, Nicola; Meltzer, Paul S; Worthley, Daniel L; Schrader, Kasmintan A; Chenevix-Trench, Georgia

    2016-05-01

    Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We mapped the gene to 5q22 and found loss of the wild-type allele on 5q in fundic gland polyps from affected individuals. Whole-exome and -genome sequencing failed to find causal mutations but, through Sanger sequencing, we identified point mutations in APC promoter 1B that co-segregated with disease in all six families. The mutations reduced binding of the YY1 transcription factor and impaired activity of the APC promoter 1B in luciferase assays. Analysis of blood and saliva from carriers showed allelic imbalance of APC, suggesting that these mutations lead to decreased allele-specific expression in vivo. Similar mutations in APC promoter 1B occur in rare families with familial adenomatous polyposis (FAP). Promoter 1A is methylated in GAPPS and sporadic FGPs and in normal stomach, which suggests that 1B transcripts are more important than 1A in gastric mucosa. This might explain why all known GAPPS-affected families carry promoter 1B point mutations but only rare FAP-affected families carry similar mutations, the colonic cells usually being protected by the expression of the 1A isoform. Gastric polyposis and cancer have been previously described in some FAP-affected individuals with large deletions around promoter 1B. Our finding that GAPPS is caused by point mutations in the same promoter suggests that families with mutations affecting the promoter 1B are at risk of gastric adenocarcinoma, regardless of whether or not colorectal polyps are present. PMID:27087319

  6. Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing [v1; ref status: indexed, http://f1000r.es/5i1

    Directory of Open Access Journals (Sweden)

    Ted Kalbfleisch

    2015-06-01

    Full Text Available Recently, deletions have been identified and published as causal for Familial Adenomatous Polyposis in the 1B promoter region of the APC gene.  Those deletions were measured using multiplex ligation-dependent probe amplification.  Here, we present and characterize an ~11kb deletion identified by whole genome shotgun sequencing.  The deletion occurred in a patient diagnosed with Familial Adenomatous Polyposis, and was located on chr5, between bases 112,034,824 and 112,045,845, fully encompassing the 1B promoter region of the APC gene.   Results are presented here that include the sequence evidence supporting the presence of the deletion as well as base level characterization of the deletion site.  These results demonstrate the capacity of whole genome sequencing for the detection of large structural variants in single individuals.

  7. The Influence of Confucianism on Traditional Chinese Families

    Institute of Scientific and Technical Information of China (English)

    王晓玲

    2007-01-01

    Since the time Confucianism was generally accepted by the Chinese populace in the Han Dynasty(2nd century B.C. ), it has become an integral part of Chinese society and what it means to be Chinese. Three aspects of traditional Chinese family under the influence of Confucianism are observed: the family and the state,positional role behavior and ancestor worship.

  8. Familial adenomatous patients with desmoid tumours show increased expression of miR-34a in serum and high levels in tumours

    Science.gov (United States)

    Walton, Sarah-Jane; Lewis, Amy; Jeffery, Rosemary; Thompson, Hannah; Feakins, Roger; Giannoulatou, Eleni; Yau, Christopher; Lindsay, James O.; Clark, Susan K.; Silver, Andrew

    2016-01-01

    Familial adenomatous polyposis (FAP) is rare affecting 1 in 10,000 people and a subset (10%) are at risk of myofibroblastic desmoid tumours (DTs) after colectomy to prevent cancer. DTs are a major cause of morbidity and mortality. The absence of markers to monitor progression and a lack of treatment options are significant limitations to clinical management. We investigated microRNAs (miRNA) levels in DTs and serum using expression array analysis on two independent cohorts of FAP patients (total, n=24). Each comprised equal numbers of patients who had formed DTs (cases) and those who had not (controls). All controls had absence of DTs confirmed by clinical and radiological assessment over at least three years post- colectomy. Technical qPCR validation was performed using an expanded cohort (29 FAP patients; 16 cases and 13 controls). The most significant elevated serum miRNA marker of DTs was miR-34a-5p and in-situ hybridisation (ISH) showed most DTs analysed (5/6) expressed miRNA-34a-5p. Exome sequencing of tumour and matched germline DNA did not detect mutations within the miR-34a-5p transcript sites or 3′-UTR of target genes that would alter functional miRNA activity. In conclusion, miR-34a-5p is a potential circulatory marker and therapy target. A large prospective world-wide multi-centre study is now warranted. PMID:27489864

  9. 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.

  10. Hereditary Transthyretin Amyloidosis in Eight Chinese Families

    OpenAIRE

    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. ...

  11. Celecoxib and tauro-ursodeoxycholic acid co-treatment inhibits cell growth in familial adenomatous polyposis derived LT97 colon adenoma cells

    Energy Technology Data Exchange (ETDEWEB)

    Heumen, Bjorn W.H. van, E-mail: b.vanheumen@mdl.umcn.nl [Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, Nijmegen (Netherlands); Roelofs, Hennie M.J.; Morsche, Rene H.M. te [Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, Nijmegen (Netherlands); Marian, Brigitte [Institute of Cancer Research, Wien University, Vienna (Austria); Nagengast, Fokko M.; Peters, Wilbert H.M. [Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, Nijmegen (Netherlands)

    2012-04-15

    Chemoprevention would be a desirable strategy to avoid duodenectomy in patients with familial adenomatous polyposis (FAP) suffering from duodenal adenomatosis. We investigated the in vitro effects on cell proliferation, apoptosis, and COX-2 expression of the potential chemopreventives celecoxib and tauro-ursodeoxycholic acid (UDCA). HT-29 colon cancer cells and LT97 colorectal micro-adenoma cells derived from a patient with FAP, were exposed to low dose celecoxib and UDCA alone or in combination with tauro-cholic acid (CA) and tauro-chenodeoxycholic acid (CDCA), mimicking bile of FAP patients treated with UDCA. In HT-29 cells, co-treatment with low dose celecoxib and UDCA resulted in a decreased cell growth (14-17%, p < 0.01). A more pronounced decrease (23-27%, p < 0.01) was observed in LT97 cells. Cell growth of HT-29 cells exposed to 'artificial bile' enriched with UDCA, was decreased (p < 0.001), either in the absence or presence of celecoxib. In LT97 cells incubated with 'artificial bile' enriched with UDCA, cell growth was decreased only in the presence of celecoxib (p < 0.05). No clear evidence was found for involvement of proliferating cell nuclear antigen, caspase-3, or COX-2 in the cellular processes leading to the observed changes in cell growth. In conclusion, co-treatment with low dose celecoxib and UDCA has growth inhibitory effects on colorectal adenoma cells derived from a patient with FAP, and further research on this combination as promising chemopreventive strategy is desired. -- Highlights: Black-Right-Pointing-Pointer Celecoxib and UDCA acid co-treatment decreases cell growth in colon tumor cells. Black-Right-Pointing-Pointer UDCA enriched 'artificial bile' decreases LT-97 cell growth only in presence of celecoxib. Black-Right-Pointing-Pointer PCNA, caspase-3, nor COX-2 seem to be involved in the observed changes in cell growth.

  12. Adenomatous Polyposis Coli Mutation Leads to Myopia Development in Mice

    OpenAIRE

    Liu, Zhen; Qiu, Fangfang; Li, Jing; Zhu, Zhenzhen; Yang, Wenzhao; Zhou, Xiangtian; An, Jianhong; Huang, Furong; Wang, Qiongsi; Reinach, Peter S.; Li, Wei; Chen, Wensheng; Liu, Zuguo

    2015-01-01

    Myopia incidence in China is rapidly becoming a very serious sight compromising problem in a large segment of the general population. Therefore, delineating the underlying mechanisms leading to myopia will markedly lessen the likelihood of other sight compromising complications. In this regard, there is some evidence that patients afflicted with familial adenomatous polyposis (FAP), havean adenomatous polyposis coli (APC) mutation and a higher incidence of myopia. To clarify this possible ass...

  13. Interaction between Chinese Family Business and Cultural Differences in Malaysia

    OpenAIRE

    Iskandar Hasan Tan Abdullah; Muhammad Syahmizan Azmi; Sakinah Mat Zin; Lim Soo Chee; Nur Azuki Yusoff

    2014-01-01

    Family business inheritance among the Chinese community is a tradition that is known by the business community worldwide. Thus, a family business among the Chinese community in Malaysia is common. In fact, the inheritance of this business provides a unique and exciting dimension to be investigated. The paper explores the empirical evaluation on the influence of family business inheritance among the Chinese; who managed to overcome obstacles and conflicts through discussions and negotiations. ...

  14. Perception of Early Intervention Family Outcome: Inside Chinese-American Families Having Children with Disabilities

    Science.gov (United States)

    Wu, Pei-Fang Rachel

    2009-01-01

    This study seeks to determine whether Chinese-American Families having a child with disabilities experience different needs and expected early intervention family outcomes from families from the mainstream culture. The Researcher used different qualitative research techniques to examine Chinese-American Families who have children with…

  15. 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

  16. Chinese American Family Food Systems: Impact of Western Influences

    Science.gov (United States)

    Lv, Nan; Brown, J. Lynne

    2010-01-01

    Objective: To investigate the family food system in first-generation Chinese American families. Design: Qualitative interviews using reciprocal determinism constructs to understand influences on food choices. Setting: Weekend Chinese schools in Pennsylvania. Participants: Twenty couples with at least 1 child aged 5 or older enrolled in a Chinese…

  17. Interaction between Chinese Family Business and Cultural Differences in Malaysia

    Directory of Open Access Journals (Sweden)

    Iskandar Hasan Tan Abdullah

    2014-04-01

    Full Text Available Family business inheritance among the Chinese community is a tradition that is known by the business community worldwide. Thus, a family business among the Chinese community in Malaysia is common. In fact, the inheritance of this business provides a unique and exciting dimension to be investigated. The paper explores the empirical evaluation on the influence of family business inheritance among the Chinese; who managed to overcome obstacles and conflicts through discussions and negotiations. Using a correlation test to examine the effect of inheritance in a family business among the Chinese, the study stress on the variables such as power distance, uncertainty avoidance, and masculinity vs. femininity, individualism vs. collectivism, time orientation and impact on value dimension. In addition, factor analysis and regression testing are also used to determine the main determinant factor in the family business inheritance among the Chinese community. Primary data were collected from August to October 2011 using questionnaires. Meanwhile, secondary data were gathered through library research and interviews with Chinese traders on the East Coast of Malaysia. From the qualitative study, it is found that the main reasons for refusal to inherit the family business among the younger Chinese generation is due to jobs that offer the lucrative wages as compared to profits earned in the family business. Job status, educational level and age are also the factors that influence the younger Chinese generation not to inherit the family business.

  18. 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.A. Ikram (Arfan); 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

  19. FAMILY INVOLVEMENT IN CHINESE AND GERMAN SMALL BUSINESSES

    OpenAIRE

    ANTJE SCHMITT; MICHAEL FRESE

    2011-01-01

    The goal of this study was to examine cultural differences in the value of family involvement in German and Chinese small businesses due to their differences in collectivism/individualism. Our analyses, based on a sample of 562 Chinese and German owners, showed that family involvement — measured as the number of family members that work in the business — is higher in China than in Germany. Compared to German business owners, Chinese owners received most of their start-up capital from family m...

  20. A Chinese Longitudinal Study on Work/Family Enrichment

    Science.gov (United States)

    Lu, Luo

    2011-01-01

    Purpose: The purpose of this paper is to explore reciprocal relationships between work/family resources, work/family enrichment (WFE), and work/family satisfaction in a Chinese society. Design/methodology/approach: A longitudinal design was adopted using a three-wave panel sample. Data were obtained from 310 Taiwanese employees on three occasions,…

  1. 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

  2. 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.

  3. Hereditary Transthyretin Amyloidosis in Eight Chinese Families

    Directory of Open Access Journals (Sweden)

    Ling-Chao Meng

    2015-01-01

    Full Text Available 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 of myelinated 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.

  4. Family Ties and Organizational Design: Evidence from Chinese Private Firms.

    OpenAIRE

    Cai, Hongbin; Li, Hongbin; Park, Albert; Zhou, Li-An

    2010-01-01

    Analyzing data from a unique survey of managers of Chinese private firms, we investigate how family ties with firm heads affect managerial compensation and job assignment. We find that family managers earn higher salaries and receive more bonuses, hold higher positions, and are given more decision rights and job responsibilities than non-family managers in the same firm. However, family managers face weaker incentives than professional managers as seen in the lower sensitivity of their bonuse...

  5. Adenomatous polyposis coli (APC) membrane recruitment 3, a member of the APC membrane recruitment family of APC-binding proteins, is a positive regulator of Wnt-β-catenin signalling.

    Science.gov (United States)

    Brauburger, Katharina; Akyildiz, Senem; Ruppert, Jan G; Graeb, Michael; Bernkopf, Dominic B; Hadjihannas, Michel V; Behrens, Jürgen

    2014-02-01

    The adenomatous polyposis coli (APC) membrane recruitment (Amer) family proteins Amer1/Wilms tumour gene on the X chromosome and Amer2 are binding partners of the APC tumour suppressor protein, and act as negative regulators in the Wnt signalling cascade. So far, nothing has been known about the third member of the family, Amer3. Here we show that Amer3 binds to the armadillo repeat domain of APC, similarly to Amer1 and Amer2. Amer3 also binds to the Wnt pathway regulator conductin/axin2. Furthermore, we identified Amer1 as binding partner of Amer3. Whereas Amer1 and Amer2 are linked to the plasma membrane by an N-terminal membrane localization domain, Amer3 lacks this domain. Amer3 localizes to the cytoplasm and nucleus of epithelial cells, and this is dependent on specific nuclear import and export sequences. Functionally, exogenous Amer3 enhances the expression of a β-catenin/T-cell factor-dependent reporter gene, and knockdown of endogenous Amer3 reduces Wnt target gene expression in colorectal cancer cells. Thus, Amer3 acts as an activator of Wnt signalling, in contrast to Amer1 and Amer2, which are inhibitors, suggesting a nonredundant role of Amer proteins in the regulation of this pathway. Our data, together with those of previous studies, provide a comprehensive picture of similarities and differences within the Amer protein family. PMID:24251807

  6. Entrepreneurial Orientation of ethnic Chinese Family Firm

    OpenAIRE

    Khan, Bushra Ahmed

    2013-01-01

    Until recently, family firms have been an overlooked phenomena in the academic world. Recognition that family firms make up the backbone of most the economies of the world have spurred on researchers to take a closer look at these complex and heterogeneous entities. One of the topics that have emerged in the field of family business is entrepreneurial orientation, which is essentially an established construct from the strategic management literature consisting of five dimensions- autonomy, in...

  7. 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

  8. 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…

  9. Chinese Family:Some New Trends

    Institute of Scientific and Technical Information of China (English)

    Alice Yang

    2011-01-01

    It is a familiar sight in many Chinese cities to witness a large team escorting a baby pram in public:mother,grandmothers,ayi (nanny),another ayi maybe,grandfathers quiet possible,and finally father if you are lucky.Yes,after China's implementation of “One Child Only” policy in the late of 1970s,it's the time for the baby boom generation to create another round of baby boom.The babies get so much attention and love from their 4grandparents,2 parents,and more ayis.Whilst it once was very common for grandparents to take care of the baby and toddler at home when both parents are at work,now the trend is changing slightly.

  10. Berberine potently attenuates intestinal polyps growth in ApcMin mice and familial adenomatous polyposis patients through inhibition of Wnt signalling

    OpenAIRE

    Zhang, Junfang; Cao, Hailong; Zhang, Bing; CAO, HANWEI; Xu, Xiuqin; Ruan, Hang; Yi, Tingting; Tan, Li; Qu, Rui; Song, Gang; Wang, Bangmao; Hu, Tianhui

    2013-01-01

    As a traditional anti-inflammatory Chinese herbal medicine, Alkaloid berberine has been recently reported to exhibit anti-tumour effects against a wide spectrum of cancer. However, the mechanism was largely unknown. Gene chip array reveals that with berberine treatment, c-Myc, the target gene of Wnt pathway, was down-regulated 5.3-folds, indicating that berberine might inhibit Wnt signalling. TOPflash analysis revealed that Wnt activity was significantly reduced after berberine treatment, and...

  11. 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.

  12. 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.

  13. Getting over the Patriarchal Barriers: Women's Management of Men's Smoking in Chinese Families

    Science.gov (United States)

    Mao, Aimei

    2015-01-01

    Chinese family is a patriarchal power system. How the system influences young mothers' agency in managing family men's smoking is unknown. Applying a gender lens, this ethnographic study explored how mothers of young children in Chinese extended families reacted to men's smoking. The study sample included 29 participants from 22 families.…

  14. 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…

  15. 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.

  16. 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.

  17. Raising Children in Chinese Immigrant Families: Evidence from the Research Literature

    Science.gov (United States)

    Guo, Karen

    2006-01-01

    Children of Chinese culture are raised differently from children of other cultural groups. There is research evidence which contends that, regardless of where they live, the child-rearing practices within Chinese immigrant families are still influenced by Chinese traditional culture. Some studies also point out that Chinese immigrant parents…

  18. 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

    DEFF Research Database (Denmark)

    Nilbert, Mef; Kristoffersson, Ulf; Ericsson, Mats;

    2008-01-01

    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_5031ins......AA) 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....

  19. Molecular characterization of a Han Chinese family with essential hypertension.

    Science.gov (United States)

    Zhu, J F; Zhang, X; Ling, L

    2016-01-01

    Mutations in the mitochondrial genome have been found to be associated with essential hypertension. Here, we report the clinical and molecular characterization of a three-generation Han Chinese family with maternally inherited hypertension. Most strikingly, this pedigree exhibited a high penetrance of hypertension. Sequence analysis of the mitochondrial genome showed the presence of a homoplasmic T16189C mutation in the D-loop and the intergenic CO2/tRNA(Lys) 9-bp common deletion, as well as a set of polymorphisms belonging to the East Asia haplogroup B5b1. The well-known T16189C mutation, which is in the first hypervariable segment of the mitochondrial control region, is implicated to be associated with a wide range of clinical disorders. Moreover, the genetic polymorphism 9-bp common deletion is found to be associated with hepatocellular carcinoma in the Han Chinese population. Thus, the combination of T16189C mutation and the 9-bp deletion may have caused mitochondrial dysfunction and contributed to the development of essential hypertension in this Chinese family. PMID:27323027

  20. Paternal and maternal influences on family functioning among Hong Kong Chinese families.

    Science.gov (United States)

    Shek, D T

    2001-03-01

    The linkages between dyadic relationships in the family and family functioning were examined in 378 Chinese families on two occasions. The following dyadic relationships were investigated: (a) parent-child relationship qualities reported by adolescent children (questionnaire and interview measures of parenting style, parent-adolescent conflict, parent-adolescent communication, and parent-adolescent relationship) and by their parents (questionnaire measures of parent-child relationship quality and demand); and (b) marital quality reported by the parents via questionnaire measures. Results showed that parents' and children's views of family functioning were longitudinally related to dyadic relationships in the family. Relative to mother-adolescent relationship and mothers' report of marital quality, father-adolescent relationship and fathers' report of marital quality were generally found to have a stronger association with perception of family functioning and its change over time. PMID:11338441

  1. 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…

  2. Individuals are inadequate: recognizing the family-centeredness of Chinese bioethics and Chinese health system.

    Science.gov (United States)

    Li, Jun; Wang, Jue

    2012-12-01

    This paper is aimed at a critical assessment of the moral framework of the current Chinese health system from a Confucian perspective, by focusing on the debate between the individual directed approach and the family-oriented approach to a health care system. Concerned with the nature and status of the family in communal life, the paper deals with the following questions: to cope with the frailties of material life (including susceptibility to disease), what good is presupposed by human existence and flourishing; why it is the family that serves as the primary locus of bearing and realizing this unique good; and what kind of society might possess the structures necessary to achieve the good thus conceived. All these questions lead to a revision of the theory of justice required in health care, in favor of family health saving accounts as an important institutional guarantee. PMID:23175794

  3. 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…

  4. Family Involvement in Children's Mathematics Education Experiences: Voices of Immigrant Chinese American Students and Their Parents

    Science.gov (United States)

    Liang, Senfeng

    2013-01-01

    This study examines ways in which Chinese immigrant families are involved in their children's mathematics education, particularly focusing on how different types of families utilize different forms of capital to support their children's mathematics education. The theoretical framework defines four types of Chinese immigrant families--working…

  5. 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

  6. 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…

  7. 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.

  8. Psychometric properties of a Chinese version of the medical outcomes study family and marital functioning measures in Hong Kong Chinese childbearing families

    OpenAIRE

    Ngai, Fei-Wan; Ngu, Siew-Fei

    2012-01-01

    The aim of the study was to evaluate the psychometric properties of the Chinese version of Medical Outcomes Study Family and Marital Functioning Measures (C-MOS-FMFM) in Hong Kong Chinese childbearing families. A cross-sectional survey was conducted using a convenience sample of 128 childbearing couples recruited from antenatal clinics. The C-MOS-FMFM demonstrated good internal consistency (Cronbach's alpha = 0.79) and test-retest reliability (intraclass correlation coefficient = 0.74). Signi...

  9. 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 .

  10. Relations between Parent-Child Acculturation Differences and Adjustment within Immigrant Chinese Families

    Science.gov (United States)

    Costigan, Catherine L.; Dokis, Daphn P.

    2006-01-01

    The relations between parent and child acculturation and family and child adjustment were examined among 91 immigrant Chinese families in Canada with early adolescents (average age of 12). Acculturation was assessed in public (e.g., language use) and private (e.g., values) domains separately in Chinese and Canadian cultures. With one exception,…

  11. Family functioning, marital quality and social support in Chinese patients with epilepsy

    OpenAIRE

    Wang, Yi-he; Haslam, Michelle; Yu, Ming; Ding, Juan; Lu, Qian; Pan, Fang

    2015-01-01

    Background The purpose of this study was to examine family functioning, marital quality, social support, and anxiety and depression in Chinese patients with Epilepsy (PWE) in comparison with healthy people. Methods This case–control study included 42 PWE and 42 healthy controls. Participants completed the Zung’s self-rating depression scale, the Zung’s self-rating anxiety scale, the Chinese version of family cohesion and flexibility evaluation scales, the Chinese version of the marital invent...

  12. Family planning and sex education: the Chinese approach.

    Science.gov (United States)

    Fraser, S E

    1977-03-01

    The limitation of population growth in China to about 1.7% annually is, in large part, the result of changing sexual norms which have been brought about by community-wide sexual education. These changes include elevating the status of women, dismissing the traditional striving for male children as "old fashioned," and emphasizing responsible parenthood. About 6% of China's population is made up of minority peoples, some 54 distinctive groups including a few such as the Khalkhas and Sibos who have virtually been saved from extinction during the past 25 years. For these groups the growth rate is 6% and the central government in Peking stresses to visitors that for minorities there is no limitation of family size but that health of the mother is stressed. Conversations with Chinese health workers indicate that rural women are much more in favor of family planning than their husbands and are much more willing to be sterilized when the acceptable family size of 2 or 3 children is reached. However, men are becoming more willing to use condoms which are available without cost from village health workers. There is little sex education in the schools. Physiology is included as a minor part of general biology. Young people are cautioned not to "fall in love" at too early an age or else they will not keep their minds on their studies and will get married too early. Emphasis is on late marriage, 25 for women and 27 for men. Only a modest glance at population or sexually oriented topics are encouraged until marriage is contemplated. Then sex education is given in great variety and detail. It is the opinion of doctors and health workers that sex education is a matter for the married, not the single. Chinese society has little external sexual stimuli, nudity or seminudity is not acceptable except at the beach or the swimming pool, and the young people are generally taught to be circumspect. There is none of the advertising which permeates Western culture. It is understandable

  13. [Adenomatous polyposis of the gallbladder and Gardner's syndrome. A rare association].

    Science.gov (United States)

    Brevet, Marie; Brehant, Olivier; Dumont, Frédéric; Regimbeau, Jean-Marc; Dupas, Jean-Louis; Chatelain, Denis

    2007-04-01

    We report one case of adenomatous polyposis of the gallbladder in a 57 year-old woman with Gardner's syndrome presenting with cholangitis. On gross examination the gallbladder contained two calculi and numerous flat or polypoid adenomas less than 1 cm in size. On microscopic examination, the adenomas showed low and high grade intraepithelial neoplasia. Only 10 cases of gallbladder adenomas have been reported in the literature in patients presenting with familial adenomatous polyposis (FAP). Cholecystectomy is usually performed for cholecystitis or cholangitis. These adenomatous gallbladder lesions are discovered late, often when the patient is older than 40. Pathogenesis of gallbladder adenomas is still unclear. It is difficult to assess the risk of malignancy: only 6 cases of gallbladder adenocarcinomas have been reported in patients with FAP. PMID:17483782

  14. Child Psychological Maltreatment and Its Correlated Factors in Chinese Families.

    Science.gov (United States)

    Zhang, Wenjing; Ma, Yating; Chen, Jingqi

    2016-01-01

    The present study aimed to explore the prevalence and frequency of child psychological maltreatment and its correlated factors in Chinese families. A cross-sectional investigation was conducted among 1,002 parents of primary school students in Yuncheng City, China. Data were collected using the self-report questionnaire anonymously. Results showed that 696 (69.5%) surveyed parents had different extents of psychological maltreatment toward their children in the past 3 months. The high prevalence of parental psychology maltreatment was significantly associated with high scores on parental over-reactivity and low scores on recognition of child psychology maltreatment. These findings indicate that it is urgent to develop cultural interventions to raise parents' awareness of preventing child psychological maltreatment and to help parents use nonviolent child rearing in China. PMID:27030213

  15. 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

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

    OpenAIRE

    A. Olry de Labry Lima; L. Sordo del Castillo; L. García Mochón; Epstein, D; C. Bermúdez Tamayo; R. Villegas Portero

    2008-01-01

    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 efe...

  17. Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia.

    Science.gov (United States)

    Cheng, Xiaohuan; Ding, Junfa; Zheng, Fang; Zhou, Xin; Xiong, Chenling

    2009-11-01

    Familial hypercholesterolemia (FH) (OMIM 143890) is an autosomal dominantly inherited disease mainly caused by mutations of the gene encoding the low density lipoprotein receptor (LDLR) and Apolipoprotein (Apo) B. First the common mutation R3500Q in ApoB gene was determined using PCR/RFLP method. Then the LDLR gene was screened for mutations using Touch-down PCR, SSCP and sequencing techniques. Furthermore, the secondary structure of the LDLR protein was predicted with ANTHEPROT5.0. The R3500Q mutation was absent in these two families. A heterozygous p.W483X mutation of LDLR gene was identified in family A which caused a premature stop codon, while a homozygous mutation p.A627T was found in family B. The predicted secondary structures of the mutant LDLR were altered. We identified two known mutations (p.W483X, p.A627T) of the LDLR gene in two Chinese FH families respectively. PMID:19020990

  18. Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    XIE Li; GONG Qi-hua; XIE Zhi-guo; LIANG Zong-min; HU Zheng-mao; XIA Kun; XIA Jia-hui; YANG Yi-feng

    2007-01-01

    Background Familial hypercholesterolemia (FH) is a type of dominant autosomal disease that causes high levels of plasma low-density lipoprotein cholesterol (LDL-C). In the past years, molecular data related to FH were limited in China.Now, to gain more information about FH, we analyzed one proband with a severe FH phenotype as well as his relatives.Methods After the entire coding sequence and the intron-exon junctions of the low-density lipoprotein receptor (LDLR)gene were amplified using PCR, we sequenced the LDLR gene of a Chinese FH family. RT-PCR was used to detect changes in the mRNA.Results Two novel mutations were identified in the LDLR gene of this family. One, W165X, was a G>A substitution at the third nucleotide of codon 165. The other, IVS5-1G>A, was also a G>A substitution at the acceptor splice site of intron 5. The most striking discovery is that the proband was heterozygous for W165X but homozygous for IVS5-1G>A. The cDNA sequencing showed that the IVS5-1G>A mutation caused the insertion of 10 nucleotides, namely GCTCTCACAA,between exon 5 and exon 6.Conclusions The two nucleotide variations are thought to be the FH-causing mutations because the co-segregation of the mutant allele with the phenotype of FH has been shown in this Chinese family. These data show an increase in the mutational spectrum of FH in China and verify a scarce mutational form in the LDLR gene.

  19. 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…

  20. Stresses and Coping Strategies of Chinese Families with Children with Autism and Other Developmental Disabilities

    Science.gov (United States)

    Wang, Peishi; Michaels, Craig A.; Day, Matthew S.

    2011-01-01

    Data from 368 families of children with autism and other developmental disabilities in the People's Republic of China were gathered to understand the stresses that families experience and the coping strategies they employ. Chinese families of children with developmental disabilities perceived high levels of stress related to pessimism, child…

  1. Family firms, networks and 'Ethnic enterprise' : Chinese food industry in Britain.

    OpenAIRE

    Gomez, Edmund Terence.; Gordon C. K. Cheung

    2009-01-01

    Chinese family enterprises in the United Kingdom have penetrated many different sectors of the economy, including restaurants, wholesaling, retailing, trading, manufacturing, property development, computer services and investment holding. Among the companies in these sectors, those involved in different segments of the food industry, as manufacturers, retailers and wholesalers, reputedly feature characteristics of Chinese culture. A majority of these enterprises, for example, function as fami...

  2. The Efficacy of Parent-Child Interaction Therapy with Chinese Families: Randomized Controlled Trial

    Science.gov (United States)

    Leung, Cynthia; Tsang, Sandra; Sin, Tammy C. S.; Choi, Siu-yan

    2015-01-01

    Objective: This study aimed to examine the efficacy of the Parent-Child Interaction Therapy (PCIT) in Hong Kong Chinese families, using randomized controlled trial design. Methods: The participants included 111 Hong Kong Chinese parents with children aged 2--7 years old, who were randomized into the intervention group (n = 54) and control group (n…

  3. 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…

  4. 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 control...

  5. Familial Contribution to Chinese American Children's Self-Regulated Learning during the Early School Years

    OpenAIRE

    Zhao, Shuheng

    2013-01-01

    This dissertation examined how Chinese American children's everyday family experiences contributed to their self-regulated learning during the early school years. A total of 154 immigrant Chinese parents participated in this study and completed nine sets of multi-point rating questionnaires on a secured website. A series of analysis of covariance and hierarchical regressions were performed. Results provided the first empirical evidence that children's participation in family rituals and routi...

  6. The psychosocial adjustment of Chinese adolescent immigrants in satellite families in Canada

    OpenAIRE

    Yeung, Paul

    2005-01-01

    This study examined the psychosocial adjustment of Chinese immigrant children in satellite families in Canada. I used Flanagan's (1954) Critical Incident Technique to interview 32 Chinese children who were between 10 and 19 years old, living in satellite families, and who emigrated from China, Taiwan, or Hong Kong to Canada within the last four years. All interviews were conducted in the respondents' mother tongue. The results showed that these children, whether they emigrated to Canada recen...

  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

    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. PMID:21747993

  9. 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. PMID:19930439

  10. Understanding the Culture of Chinese Children and Families

    Science.gov (United States)

    Cheung, Ruth; Nelson, Warren; Advincula, Luzelle; Cureton, Virginia Young; Canham, Daryl L.

    2005-01-01

    Providing appropriate health care to a client can be accomplished only in an environment that is sensitive to the cultural values and beliefs of the client. As the population of first-and second-generation Chinese immigrants increases in the United States, the need to develop culturally sensitive health care becomes significant. Chinese immigrants…

  11. Mutation screening of three Chinese families with genetic epilepsy with febrile seizures plus.

    Science.gov (United States)

    Lin, Hua; Li, Jingyun; Wang, Mengyang; Wang, Zheng; Wang, Yuping; Wu, Liwen

    2011-08-15

    Genetic epilepsy with febrile seizures plus (GEFS+) is a familial autosomal dominant condition characterized by genetic heterogeneity. Five genes for GEFS+ identified in large families account for only a small proportion of families. Mutation in the majority of families with GEFS+ has not identified yet. The aim of our study is to search for the gene responsible for GEFS+ in three Chinese families by linkage analyses and a sequencing approach and to investigate the importance of coding and noncoding regions variations of four known GEFS+ genes (SCN1A, SCN1B, GABRG2 and SCN2A) in Chinese families. Results showed that a 6-cM candidate interval at 5q33-34 with a maximum LOD scores of 2.043 was identified in families B. Sequencing candidate gene GABRG2 and GABRA1 in this region did not identify a causative mutation. Moreover, no mutation was found in coding and noncoding regions of the four genes in three Chinese families. Besides excluding coding regions of four known GEFS+ genes, we also excluded the possibility of a mutation in the promoter, exon-intron boundaries, 5' untranslated regions (5' UTRs), and 3' UTRs of four known GEFS+ genes in three Chinese families. In conclusion, the present study demonstrates the heterogeneity of the etiologies of GEFS+. There are as yet undiscovered mechanisms underlying GEFS+. PMID:21704126

  12. The modern Chinese family in light of economic and legal history.

    Science.gov (United States)

    Huang, Philip C C

    2011-01-01

    Most social science theory and the currently powerful Chinese ideology of modernizationism assume that, with modern development, family-based peasant farm production will disappear, to be replaced by individuated industrial workers and the three-generation family by the nuclear family. The actual record of China’s economic history, however, shows the powerful persistence of the small family farm, as well as of the three-generation family down to this day, even as China’s GDP becomes the second largest in the world. China’s legal system, similarly, encompasses a vast informal sphere, in which familial principles operate more than individualist ones. And, in between the informal-familial and the formal-individualist, there is an enormous intermediate sphere in which the two tendencies are engaged in a continual tug of war. The economic behavior of the Chinese family unit reveals great contrasts with what is assumed by conventional economics. It has a different attitude toward labor from that of both the individual worker and the capitalist firm. It also has a different structural composition, and a different attitude toward investment, children’s education, and marriage. Proper attention to how Chinese modernity differs socially, economically, and legally from the modern West points to the need for a different kind of social science; it also lends social–economic substance to claims for a modern Chinese culture different from the modern West’s. PMID:22145178

  13. The One-Child Population Policy, Modernization, and the Extended Chinese Family.

    Science.gov (United States)

    Chen, Xiangming

    1985-01-01

    Examines structural, social-psychological, and ecologial factors affecting the direction and type of changes occurring in the Chinese family. Multiple demographic and socioeconomic influences and the family's adaptive responses are creating conditions in China for the traditional household arrangement to survive, while generating new variants of…

  14. 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…

  15. The Rate of Physical Child Abuse in Chinese Families: A Community Survey in Hong Kong.

    Science.gov (United States)

    Tang, Catherine So-kum

    1998-01-01

    A telephone survey of 1,019 Chinese Hong Kong households found families showed slightly lower rates of minor violence than U.S. families, but higher rates of severe violence toward children. The highest rate of severe violence occurred among boys or children ages 3-6. Female caregivers were the most likely abusers. (Author/CR)

  16. 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

  17. Bridging Home and Host Country: Educational Predispositions of Chinese and Indian Recent Immigrant Families

    Science.gov (United States)

    Gordon, June A.; Liu, Xiangyan

    2015-01-01

    This research focuses on the predispositions that recent Chinese and Indian immigrant families bring with them to the United States and how these are reinforced by the communities in which they locate. The findings draw from 144 interviews in California. Three themes dominate: positioning through schooling, transnational family, and extended…

  18. Perspectives on Family Health, Happiness and Harmony (3H) among Hong Kong Chinese People: A Qualitative Study

    Science.gov (United States)

    Lam, W. W. T.; Fielding, R.; McDowell, I.; Johnston, J.; Chan, Sophia; Leung, G. M.; Lam, T. H.

    2012-01-01

    Family harmony, an important Confucian ideal in Chinese society is believed to determine family happiness and therefore health, but is this accurate? This is a qualitative study of 41 Hong Kong Chinese family members. Individual recorded interviews were thematically analysed describing perceived interactions between harmony, happiness and health.…

  19. 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

    2007-01-01

    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…

  20. Living With Dementia: An Exploratory Study of Caregiving in a Chinese Family Context.

    Science.gov (United States)

    Wong, Oi Ling; Kwong, Ping Sum; Ho, Candis Ka Yan; Chow, Susanna Miu Yee; Kwok, Timothy; Wong, Bel; Ho, Vennus; Lau, Andrew; Ho, Florence

    2015-01-01

    This qualitative study explored themes that described families taking care of elderly relatives with dementia in Chinese society. Ten families were invited for two in-depth family interviews involving spousal caregivers, child caregivers, and care recipients. Five themes resulted: positive affection as coping strategies, power and control in the caregiving relationship, adult children's involvement in caregiving, sibling rivalry, and intergenerational conflicts. The ways these themes functioned and helped in dementia care, the research implications, and limitations are discussed. PMID:26399493

  1. Group Parent Training with Immigrant Chinese Families: Enhancing Engagement and Augmenting Skills Training

    OpenAIRE

    Lau, Anna S.; Fung, Joey J.; Yung, Vanda

    2010-01-01

    Parent training (PT) is a well supported treatment for reducing and preventing child conduct problems and abusive parenting. However, questions have been raised about the dissemination of PT to culturally diverse families who hold different views on childrearing and family structure. This article describes the application of group PT in two Chinese immigrant families to illustrate dual strategies for addressing potential cultural barriers. The Incredible Years program builds in many therapeut...

  2. 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

  3. Manifestações extracolônicas da polipose adenomatosa familiar: incidência e impacto na evolução da doença Extracolonic manifestations of familial adenomatous polyposis: incidence and impact on the disease outcome

    Directory of Open Access Journals (Sweden)

    Fábio Guilherme Campos

    2003-06-01

    Full Text Available RACIONAL: A polipose adenomatosa familiar é doença hereditária de caráter autossômico dominante, que freqüentemente se associa a numerosas manifestações extracolônicas. OBJETIVOS: Relatar a incidência de manifestações extracolônicas em nosso meio e analisar seu impacto na evolução da doença. PACIENTES E MÉTODOS: Revisão dos prontuários de pacientes com polipose adenomatosa familiar tratados no período de 1977 a 2001, relatando as manifestações extracolônicas associadas e suas complicações. RESULTADOS: Dos 59 pacientes com polipose adenomatosa familiar, 23 (38,9% apresentaram alguma manifestação extracolônica por ocasião do diagnóstico ou no seguimento. Foram registradas 37 diferentes manifestações (1,6 por paciente. As mais comuns foram osteomas e alterações na pigmentação da retina, diagnosticadas em 25% e 20% dos pacientes pesquisados, respectivamente. Outras manifestações extracolônicas achadas foram adenomas do trato digestivo superior, cistos epidermóides, tumores desmóides (sete cada, câncer gástrico (três e câncer de tireóide (dois. Complicações importantes diretamente relacionadas aos tumores desmóides foram reportadas em seis pacientes, sendo obstrução intestinal em quatro e hidronefrose em dois. Registraram-se óbitos em dois pacientes (28,5%. CONCLUSÕES: A incidência de manifestações extracolônicas é alta (40%, podendo afetar a evolução da doença e a qualidade de vida dos pacientes. Por esses motivos, torna-se de fundamental importância a pesquisa, a prevenção e o tratamento adequado dessas manifestações na polipose adenomatosa familiar.BACKGROUND: Familial adenomatous polyposis is a hereditary disease with autossomic and dominant features, frequently associated to many extracolonic manifestations. AIM: To report extracolonic manifestations incidence and to analyze its impact on the disease's outcome. PATIENTS AND METHODS: Revision of patient charts treated from 1977 to

  4. 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

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

    OpenAIRE

    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 stress moderated or mediated this relationship. Participants were 444 Chinese American families. Results indicated no evidence of moderation, but we obse...

  6. International Patenting Strategies of Chinese Residents: an analysis of foreign-oriented patent families

    OpenAIRE

    Mila Kashcheeva; Sacha Wunsch-Vincent; Hao Zhou

    2014-01-01

    In terms of the number of its patent applications, in 2012 China has emerged as the country with the largest IP office in the world. The performance of the Chinese IP system is thus increasingly in the spotlight. While significant economic studies have been devoted to the rise of domestic patenting in China, hardly any study has focused on Chinese patent filings in foreign countries. This paper analyzes Chinese patenting abroad by using WIPO’s foreign-oriented patent family dataset and a resp...

  7. 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.  

  8. 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.

  9. 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

  10. Adenomatous Polyposis Coli Mutation Leads to Myopia Development in Mice.

    Directory of Open Access Journals (Sweden)

    Zhen Liu

    Full Text Available Myopia incidence in China is rapidly becoming a very serious sight compromising problem in a large segment of the general population. Therefore, delineating the underlying mechanisms leading to myopia will markedly lessen the likelihood of other sight compromising complications. In this regard, there is some evidence that patients afflicted with familial adenomatous polyposis (FAP, havean adenomatous polyposis coli (APC mutation and a higher incidence of myopia. To clarify this possible association, we determined whether the changes in pertinent biometric and biochemical parameters underlying postnatal refractive error development in APCMin mice are relevant for gaining insight into the pathogenesis of this disease in humans. The refraction and biometrics in APCMin mice and age-matched wild-type (WT littermates between postnatal days P28 and P84 were examined with eccentric infrared photorefraction (EIR and customized optical coherence tomography (OCT. Compared with WT littermates, the APCMin mutated mice developed myopia (average -4.64 D on P84 which was associated with increased vitreous chamber depth (VCD. Furthermore, retinal and scleral changes appear in these mice along with: 1 axial length shortening; 2 increased retinal cell proliferation; 3 and decreased tyrosine hydroxylase (TH expression, the rate-limiting enzyme of DA synthesis. Scleral collagen fibril diameters became heterogeneous and irregularly organized in the APCMin mice. Western blot analysis showed that scleral alpha-1 type I collagen (col1α1 expression also decreased whereas MMP2 and MMP9 mRNA expression was invariant. These results indicate that defective APC gene function promotes refractive error development. By characterizing in APCMin mice ocular developmental changes, this approach provides novel insight into underlying pathophysiological mechanisms contributing to human myopia development.

  11. Adenomatous Polyposis Coli Mutation Leads to Myopia Development in Mice

    Science.gov (United States)

    Li, Jing; Zhu, Zhenzhen; Yang, Wenzhao; Zhou, Xiangtian; An, Jianhong; Huang, Furong; Wang, Qiongsi; Reinach, Peter S.; Li, Wei; Chen, Wensheng; Liu, Zuguo

    2015-01-01

    Myopia incidence in China is rapidly becoming a very serious sight compromising problem in a large segment of the general population. Therefore, delineating the underlying mechanisms leading to myopia will markedly lessen the likelihood of other sight compromising complications. In this regard, there is some evidence that patients afflicted with familial adenomatous polyposis (FAP), havean adenomatous polyposis coli (APC) mutation and a higher incidence of myopia. To clarify this possible association, we determined whether the changes in pertinent biometric and biochemical parameters underlying postnatal refractive error development in APCMin mice are relevant for gaining insight into the pathogenesis of this disease in humans. The refraction and biometrics in APCMin mice and age-matched wild-type (WT) littermates between postnatal days P28 and P84 were examined with eccentric infrared photorefraction (EIR) and customized optical coherence tomography (OCT). Compared with WT littermates, the APCMin mutated mice developed myopia (average -4.64 D) on P84 which was associated with increased vitreous chamber depth (VCD). Furthermore, retinal and scleral changes appear in these mice along with: 1) axial length shortening; 2) increased retinal cell proliferation; 3) and decreased tyrosine hydroxylase (TH) expression, the rate-limiting enzyme of DA synthesis. Scleral collagen fibril diameters became heterogeneous and irregularly organized in the APCMin mice. Western blot analysis showed that scleral alpha-1 type I collagen (col1α1) expression also decreased whereas MMP2 and MMP9 mRNA expression was invariant. These results indicate that defective APC gene function promotes refractive error development. By characterizing in APCMin mice ocular developmental changes, this approach provides novel insight into underlying pathophysiological mechanisms contributing to human myopia development. PMID:26495845

  12. A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family

    OpenAIRE

    Dong, Jiamei; Bu, Juan; Du, Wei; Li, Yuan; Jia, Yanlei; Li, Jianchang; Meng, Xiaoli; Minghui YUAN; Peng, Xiaojuan; Zhou, Aimin; Wang, Lejin

    2012-01-01

    Purpose Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS). Methods It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analyzed in a Chinese family of 36 members including 13 MFS patients. The genomic DNAs from blood leukocytes of the patients and their relatives were isolated and the entire coding region of FBN1 was amplified by PCR. The sequence of FBN1 was...

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

    OpenAIRE

    Qijun Han

    2013-01-01

    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 w...

  14. Place of dairy products in the Chinese-American family food system.

    Science.gov (United States)

    Lv, Nan; Brown, J Lynne

    2010-08-01

    Chinese Americans have a high risk of osteoporosis and their calcium intake is substantially below the daily recommendation. However, little has been done to reduce the risk of this hard-to-reach population. This theory-based qualitative study explored how first-generation Chinese American couples with children view dairy products, how they use them in their family food system, and how these uses influence their dietary behavior or intake. Twenty couples, recruited from weekend Chinese schools at three locations in Pennsylvania, were interviewed. Taste, texture, and use of additives and growth hormones appeared to be more important influences on dairy choice than lactose intolerance. In these families, parental use of food rules and power to influence food patterns affected family flexibility about dairy use. Father's power, his views of dairy products, and his preference for Chinese-based dinners had a greater influence than those of his wife or children on the use of dairy-based dinner dishes. In contrast, choices at breakfast or lunch and for snacks were more flexible and could include dairy products. Nutrition educators can encourage introduction of dairy products into the traditional dietary pattern of Chinese Americans by offering opportunities to taste unfamiliar dairy products, demonstrating use of dairy products to prepare familiar foods, including both parents in any intervention or at least in tasting recipes, and providing information on importance of calcium to bone health and amount of calcium needed from reputable sources. PMID:20656096

  15. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism

    OpenAIRE

    Wang, Yun; Wang, Zhi; Chen, Mengping; Fan, Ning; Yang, Jie; Liu, Lu; Wang, Ying; Liu, Xuyang

    2015-01-01

    Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively. Objective The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families. Patients and Methods Four non-consanguineous OCA families were included in the study. The TYR and OCA2 genes of all individuals were amplified...

  16. 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. PMID:25900779

  17. The Relation of Prosocial Orientation to Peer Interactions, Family Social Environment and Personality of Chinese Adolescents

    Science.gov (United States)

    Ma, Hing Keung; Cheung, Ping Chung; Shek, Daniel T. L.

    2007-01-01

    This study investigated the relation of peer interactions, family social environment and personality to prosocial orientation in Chinese adolescents. The results indicated no sex differences in general prosocial orientation and inclination to help others, but sex differences in inclination to maintain an affective relationship and inclination to…

  18. Coming into an Inheritance: Family Support and Chinese Heritage Language Learning

    Science.gov (United States)

    Mu, Guanglun Michael; Dooley, Karen

    2015-01-01

    The critical role that family plays in Chinese Heritage Language learning (CHLL) has gained increasing attention from psychological, political and sociological scholarships. Guided by Bourdieu's notion of "habitus", our mixed methods sociological study firstly addresses the need for quantitative evidence on the relationship between…

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

    NARCIS (Netherlands)

    S. Lan

    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

  20. 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.…

  1. 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…

  2. 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…

  3. 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…

  4. 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…

  5. Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy

    International Nuclear Information System (INIS)

    We report here the clinical, genetic, and molecular characterization of three Chinese families (WZ4, WZ5, and WZ6) with Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. Penetrances of visual impairment in these Chinese families were 33.3%, 35.7%, and 35.5%, respectively, with an average 34.8%. Furthermore, the average age-at-onset in those Chinese families was 17, 20, and 18 years. In addition, the ratios between affected male and female matrilineal relatives in these Chinese families were 3:0, 1:1, and 1.2:1, respectively. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical G11778A mutation associated with LHON in many families. The fact that mtDNA of those pedigrees belonged to different haplogroups F1, D4, and M10 suggested that the G11778A mutation occurred sporadically and multiplied through evolution of the mtDNA in China. However, there was the absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in these Chinese families. The I187T mutation in the ND1, the S99A mutation in the A6, the V254I in CO3, and I58V in ND6 mutation, showing high evolutional conservation, may contribute to the phenotypic expression of the G11778A mutation in the WZ6 pedigree. By contrast, none of mtDNA variants are evolutionarily conserved and implicated to have significantly functional consequence in WZ4 and WZ5 pedigrees. Apparently, these variants do not have a potential modifying role in the development of visual impairment associated with G11778A mutation in those two families. Thus, nuclear modifier gene(s) or environmental factor(s) seem to account for the penetrance and expressivity of LHON in these three Chinese families carrying the G11778A mutation

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

    International Nuclear Information System (INIS)

    Highlights: ► In our study, all of the patients were of Han Chinese ethnicity, which were rarely reported. ► We identified three novel PHEX gene mutations in four unrelated families with XLH. ► We found that the relationship between the phenotype and genotype of the PHEX gene was not invariant. ► 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.

  7. 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.

  8. 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.

  9. 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. PMID:27388227

  10. Family structure, parent-child conversation time and substance use among Chinese adolescents

    Directory of Open Access Journals (Sweden)

    Mak Kwok-Kei

    2010-08-01

    Full Text Available Abstract Background The family plays a vital role in shaping adolescent behaviours. The present study investigated the associations between family structure and substance use among Hong Kong Chinese adolescents. Methods A total of 32,961 Form 1 to 5 (grade 7-12 in the US Hong Kong students participated in the Youth Smoking Survey in 2003-4. An anonymous questionnaire was used to obtain information about family structure, daily duration of parent-child conversation, smoking, alcohol drinking and drug use. Logistic regression was used to calculate the adjusted odds ratios (OR for each substance use by family structure. Results Adjusting for sex, age, type of housing, parental smoking and school, adolescents from non-intact families were significantly more likely to be current smokers (OR = 1.62, weekly drinkers (OR = 1.72 and ever drug users (OR = 1.72, with significant linear increases in ORs from maternal, paternal to no-parent families compared with intact families. Furthermore, current smoking (OR = 1.41 and weekly drinking (OR = 1.46 were significantly more common among adolescents from paternal than maternal families. After adjusting for parent-child conversation time, the ORs for non-intact families remained significant compared with intact families, but the paternal-maternal differences were no longer significant. Conclusions Non-intact families were associated with substance use among Hong Kong Chinese adolescents. The apparently stronger associations with substance use in paternal than maternal families were probably mediated by the poorer communication with the father.

  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. PMID:25496506

  12. Family and Personal Adjustment of Economically Disadvantaged Chinese Adolescents in Hong Kong

    Directory of Open Access Journals (Sweden)

    Daniel T. L. Shek

    2012-01-01

    Full Text Available This study attempted to examine the relationship between poverty and adolescent developmental outcomes in the family and personal domains in 3,328 Chinese secondary school students in Hong Kong. Developmental outcomes included positive youth development constructs, problem behaviors, perceived family interaction, and parental parenting. Results showed that adolescents experiencing poverty did not differ from nonpoor adolescents in terms of risk behavior and in most indicators of positive youth development. On the other hand, adolescents with economic disadvantage displayed lower levels of positive identity, family interaction, and perceived paternal parenting than did those without economic disadvantage.

  13. The experience of Chinese immigrant women in caring for a terminally ill family member in Australia.

    Science.gov (United States)

    Heidenreich, Mary T; Koo, Fung Kuen; White, Kate

    2014-01-01

    The Chinese community, a heterogeneous, highly visible non-English speaking ethnic group in Australia, remains mostly hidden and underrepresented in palliative care service delivery along with participation in health research despite being the fastest growing such group in the country. There is a lack of Australian research information concerning the impact of migration on the caregiving experience of women carers within the Chinese cultural framework and the Australian palliative care context. This paper aims to explore the influence of Chinese cultural norms and immigration on the experience of immigrant women of Chinese ancestry caring for a terminally ill family member at home in Sydney. This study also seeks to identify factors that may present access barriers to palliative care support services. A qualitative approach was used in this study. Data were collected from semi-structured interviews with five home-based Chinese women carers and were analysed using thematic analysis. Findings identified that the participants found being a carer is a lonely and isolating experience. Sources of isolation and loneliness included social isolation experienced as a solitary carer without meaningful family and social relationships; loss of familiar cultural understandings and family values; and emotional isolators expressed in response to the physical and emotional role commitment and other constraints. The study results suggest the need for palliative care educational programmes designed to help nurses to understand the impact of cultural background within the palliative care context. Results also indicate that health care professionals should provide culturally appropriate and competent palliative care services, sensitive to the diverse socio-cultural influences and individual needs of Chinese migrants. PMID:25632724

  14. 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. PMID:24482569

  15. Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease

    OpenAIRE

    Changshui Xu; Jun Xu; Yanmin Zhang; Jianjun Ma; Hideshi Kawakami; Hirofumi Maruyama; Masaki Kamada

    2010-01-01

    Objective. To screen the susceptibility genes in Chinese pedigrees with early-onset familial Parkinson's disease (FPD). Methods. Fifty-one genomic DNA samples extracted from two Chinese pedigrees with FPD, the alpha-synuclein genes (SNCA), the leucine-rich repeat kinase 2(LRRK2), PINK1(PTEN-induced putative kinase 1), PARK7(Protein DJ1), PARK2(Parkinson juvenile disease protein 2), the glucocerebrosidase (GBA), and ATP(Ezrin-binding protein PACE-1), were sequenced by the use of polymerase ch...

  16. Familial aggregation of forearm bone mineral density in Chinese

    International Nuclear Information System (INIS)

    Osteoporosis is a major public health concern and its prevalence can be predicted based on forearm bone mineral density (BMD). This study is to investigate the familial aggregation of forearm BMD in a population-based, cross-sectional study in Anhui, China. Information on sociodemographic and environmental variables was obtained from 1,636 subjects from 409 nuclear families (including mother, father, and their first two children) by a standardized questionnaire. The forearm BMD was measured by peripheral dual-energy X-ray absorptiometry (pDXA). Using generalized additive models with a sequential adjustment for covariates, it was clearly indicated that the forearm BMD of the mother, the father, and the first sibling each had a significant and independent relation to the forearm BMD of the second sibling. Furthermore, using multiple logistic regression, the second sibling had an odds ratio (OR) of 5.3 (95%CI: 2.0-14.5) of having an extremely low (bottom 10th percentile) proximal forearm BMD and an OR of 4.3 (95%CI: 1.6-12.0) of having an extremely low distal forearm BMD when the parental mean forearm BMD was low and the first sibling's forearm BMD was low. Our findings showing strong familial aggregation of both proximal and distal forearm BMD values suggest that genetic factors play a significant role in determining both traits

  17. 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.

  18. 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.

  19. 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

  20. 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. PMID:24041263

  1. 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. PMID:25133408

  2. A Chinese familial growth hormone deficiency with a deletion of 7.1 kb of DNA.

    OpenAIRE

    He, Y A; Chen, S S; Wang, Y. X; Lin, X. Y.; D. F. Wang

    1990-01-01

    Using restriction endonuclease analysis and a human growth hormone cDNA probe, we have found a Chinese family with a human growth hormone gene deletion. Two affected sibs are homozygous for a deletion of approximately 7.1 kb of DNA, which contains the normal human growth hormone gene. The patients' parents and grandmothers are heterozygous for the deleted gene. Their grandfathers are normal and homozygous for the hGH-N gene. All of them have normal stature.

  3. A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus

    OpenAIRE

    Hu, Junjie; Liang, Desheng; Xue, Jinjie; Liu, Jing; Wu, Lingqian

    2011-01-01

    Purpose The purpose of the current research was to detect the underlying genetic defect in a Chinese family with X-linked congenital nystagmus and perform prenatal genetic diagnosis for their current pregnancy. Methods A common clinical examination and an ophthalmic evaluation were performed on the proband, one carrier, and one unaffected member. Mutation analysis of the G protein-coupled receptor 143 (GPR143) and four-point-one (4.1), ezrin, radixin, moesin (FERM) domain-containing 7 (FRMD7)...

  4. Whole Exome Sequencing Identifies Recessive PKHD1 Mutations in a Chinese Twin Family with Caroli Disease

    OpenAIRE

    Hao, Xiwei; Liu, Shiguo; Dong, Qian; Zhang, Hong; Zhao, Jing; Su, Lin

    2014-01-01

    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 se...

  5. Parental Expressivity and Parenting Styles in Chinese Families: Prospective and Unique Relations to Children's Psychological Adjustment.

    Science.gov (United States)

    Chen, Stephen H; Zhou, Qing; Eisenberg, Nancy; Valiente, Carlos; Wang, Yun

    2011-01-01

    OBJECTIVES: Parents from different cultures differ in how frequently they express emotions. However, the generalizability of the relations between parental expressivity and child adjustment in non-Western cultures has not been extensively studied. The goal of the present study was to investigate prospective relations between parental expressivity within the family (positive, negative dominant, and negative submissive expressivity) and Chinese children's psychological adjustment, above and beyond parenting styles. DESIGN: The study used two waves (3.8 years apart) of longitudinal data from a sample (n= 425) of children in Beijing (mean ages = 7.7 years at T1 and 11.6 years at T2). Parental expressivity and parenting styles were self-reported. To reduce the potential measurement overlap, items that tap parental expression of emotions toward the child were removed from the parenting style measure. Children's adjustment was measured with parents', teachers', and peers' or children's reports. RESULTS: Consistent with findings with European American samples, parental negative dominant expressivity uniquely and positively predicted Chinese children's externalizing problems controlling for prior externalizing problems, parenting styles, and family SES. Neither parental expressivity nor parenting styles uniquely predicted social competence. CONCLUSIONS: Despite previously reported cultural differences in the mean levels of parental expressivity, some of the socialization functions of parental expressivity found in Western countries can be generalized to Chinese families. Although parental expressivity and parenting styles are related constructs, their unique relations to child's adjustment suggest that they should be examined as distinct processes. PMID:23226715

  6. 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.

  7. Family Caregiver's Perception of Alzheimer's disease and caregiving in Chinese culture.

    Science.gov (United States)

    Dai, Baozhen; Mao, Zongfu; Wu, Bei; Mei, Y John; Levkoff, Sue; Wang, Huali

    2015-01-01

    This study examined the perception of Alzheimer's disease (AD) and caregiving among family caregivers of individuals with mild cognitive impairment (MCI) and AD in China. In-depth semistructured interviews were conducted with 46 family caregivers of individuals with cognitive impairment in 2009 in Wuhan and Beijing, China. Participants included 38 spouses, 7 adult children, and 1 sibling, aged between 41 and 85 years old. The findings showed that all family caregivers thought the Chinese terminology of AD laonian chidai, brought discrimination to individuals with cognitive impairment. Caregivers of individuals with AD experienced burden and desired an increase of formal services. Traditional beliefs of respecting elders and caring for extended family members were held among family caregivers of individuals with cognitive impairment, and there was nearly no difference found between caregivers of AD and those of MCI. It implied that traditional culture provided positive influences on caring for elders with cognitive impairment. An alternative term for MCI may contribute to further reducing the discrimination brought by the old Chinese terminology of AD laonian chidai. Development of formal services for elders with cognitive impairment may contribute to reducing caregivers' worries about future caregiving. PMID:25602761

  8. A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome

    Institute of Scientific and Technical Information of China (English)

    L(U) Yan; ZHU Han-guang; YE Wei-min; ZHANG Ming-bin; HE Di; CHEN Wan-tao

    2008-01-01

    Background Nevoid basal cell carcinoma syndrome(NBCCS)is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation.Mutation of patched gene(PTCH),considered the molecular defect of NBCCS,in a Chinese NBCCS family was investigated in this study.Methods Genomic DNA was isolated from blood samples of all 12 members of this family.The mutated PTCH gene was screened by polymerase chain reaction amplification and di rect sequencing.Results A new mutation of 3 bp(GAT deletion)was found in all seven affected members of this family.This mutation caused one aspartate deletion in the fourth transmembrane domain of the PTCH protein located within the sterol sensing domain(SSD).This deletion was not found in any unaffected members of this family nor in 200 controI samples.Conclusions Our findings suggest that one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.

  9. 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.

  10. Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families

    OpenAIRE

    Yang, Liping; Yin, Xiaobei; Wu, Lemeng; Chen, Ningning; Zhang, Huirong; Li, Genlin; Ma, Zhizhong

    2013-01-01

    Objectives To identify disease-causing mutations in two Chinese families with autosomal dominant retinitis pigmentosa (adRP). Design Prospective analysis. Patients Two Chinese adRP families underwent genetic diagnosis. A specific hereditary eye disease enrichment panel (HEDEP) based on targeted exome capture technology was used to collect the protein coding regions of targeted 371 hereditary eye disease genes; high throughput sequencing was done with the Illumina HiSeq 2000 platform. The iden...

  11. Polymorphisms in the HOXD4 gene are not associated with peak bone mineral density in Chinese nuclear families

    OpenAIRE

    Zhang, Hao; He, Jin-Wei; Gao, Gao; Yue, Hua; Yu, Jin-bo; Hu, Wei-wei; Gu, Jie-mei; Hu, Yun-qiu; Li, Miao; Fu, Wen-zhen; Liu, Yu-juan; Zhang, Zhen-lin

    2010-01-01

    Aim: To determine the associations between HOXD4 gene polymorphisms with peak bone mineral density (BMD) throughing measuring three tagging single nucleotide polymorphisms (tagSNPs), including rs1867863, rs13418078, and rs4972504, in HOXD4. Methods: Four hundred Chinese nuclear families with male offspring (1215 subjects) and 401 Chinese nuclear families with female offspring (1260 subjects) were recruited. BMD of the lumbar spine 1-4 (L1-4) and left proximal femur including total hip and fem...

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

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    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.

  13. 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.

  14. Identification of a novel mutation in the presenilin 1 gene in a Chinese Alzheimer's disease family.

    Science.gov (United States)

    Deng, Bo; Lian, Yan; Wang, Xin; Zeng, Fan; Jiao, Bin; Wang, Ye-Ran; Liang, Chun-Rong; Liu, Yu-Hui; Bu, Xian-Le; Yao, Xiu-Qing; Zhu, Chi; Shen, Lu; Zhou, Hua-Dong; Zhang, Tao; Wang, Yan-Jiang

    2014-10-01

    This study has identified a gene mutation in a Chinese family with Alzheimer's disease (AD). Family members were screened by a set of medical examinations and neuropsychological tests. Their DNA was extracted from blood cells and sequenced for gene mutation in the amyloid precursor protein (APP), the presenilin 1 (PS1) and the presenilin 2 (PS2) genes. Genetic analysis showed that the AD patients in the family harbored a T to G missense mutation at the position 314 in exon 4 of the PS1 gene, resulting in a change of F105C in amino acid sequence. Clinical manifestation of these patients included memory loss, counting difficulty, personality change, disorientation, dyscalculia, agnosia, aphasia, and apraxia, which was similar to that of the familial AD (FAD) patients harboring other PS1 mutations. We intend to add a novel mutation F105C of the PS1 gene to the pool of FAD mutations. With the current available genetic data, mutations of the PS1 gene account for the majority of gene mutations in Chinese FAD. PMID:24737487

  15. 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. 

  16. 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

  17. 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. PMID:27410174

  18. Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    Changshui Xu

    2010-01-01

    Full Text Available Objective. To screen the susceptibility genes in Chinese pedigrees with early-onset familial Parkinson's disease (FPD. Methods. Fifty-one genomic DNA samples extracted from two Chinese pedigrees with FPD, the alpha-synuclein genes (SNCA, the leucine-rich repeat kinase 2(LRRK2, PINK1(PTEN-induced putative kinase 1, PARK7(Protein DJ1, PARK2(Parkinson juvenile disease protein 2, the glucocerebrosidase (GBA, and ATP(Ezrin-binding protein PACE-1, were sequenced by the use of polymerase chain reaction (PCR technique. The gene dose of SNCA was checked. Results. There were only two missense mutations observed, respectively, at exon 5 of LRRK2 and exon 10 of PARK2, and both were enrolled in SNPs. Conclusion. No meaningful mutations could be detected, and other susceptibility genes should be detected in FDP patients in China.

  19. Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

    Directory of Open Access Journals (Sweden)

    Wenmin Sun

    Full Text Available PURPOSE: The aim of this study was to investigate the mutation spectrum and frequency of 34 known genes in 18 Chinese families with congenital cataracts. METHODS: Genomic DNA and clinical data was collected from 18 families with congenital cataracts. Variations in 34 cataract-associated genes were screened by whole exome sequencing and then validated by Sanger sequencing. RESULTS: Eleven candidate variants in seven of the 34 genes were detected by exome sequencing and then confirmed by Sanger sequencing, including two variants predicted to be benign and the other pathogenic mutations. The nine mutations were present in 9 of the 18 (50% families with congenital cataracts. Of the four families with mutations in the X-linked NHS gene, no other abnormalities were recorded except for cataract, in which a pseudo-dominant inheritance form was suggested, as female carriers also had different forms of cataracts. CONCLUSION: This study expands the mutation spectrum and frequency of genes responsible for congenital cataract. Mutation in NHS is a common cause of nonsyndromic congenital cataract with pseudo-autosomal dominant inheritance. Combined with our previous studies, a genetic basis could be identified in 67.6% of families with congenital cataracts in our case series, in which mutations in genes encoding crystallins, genes encoding connexins, and NHS are responsible for 29.4%, 14.7%, and 11.8% of families, respectively. Our results suggest that mutations in NHS are the common cause of congenital cataract, both syndromic and nonsyndromic.

  20. Mutation analysis in a Chinese family with multiple endocrine neoplasia type 1

    Institute of Scientific and Technical Information of China (English)

    ZHA Bing-bing; LIANG Wang; LIU Jun; CHENG Juan; HONG Xiao-wu; LIU Jing; LI Yi-ming; MA Duan

    2010-01-01

    Background Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome which is caused by germline mutations of the tumor suppressor gene MEN1. This study aimed to identify mutations in a Chinese pedigree withMEN1. Methods A large Chinese family with MEN1 was collected. All of the coded regions and their adjacent sequences of the MEN1 gene were amplified and sequenced. Results In this family, a heterozygous cytosine insertion in exon 10 (c.1546_1547insC) inducing a frame shift mutation of MEN1 was found in the proband and the other two suffering members of his family. This mutation was linked to a novel single nucleotide polymorphism (SNP) in intron 3 (IVS3+18C>T). Conclusions The mutation in exon 10 of MEN1 gene might induce development of parathyroid hyperplasia and pituitary adenoma and cosegregate with MEN1 syndrome. The significance of the new found IVS3+18C>T of MEN1 needs a further investigation.

  1. A Study on the Underlying Causes Behind the Declining Trend of Chinese Male’s Authority in Families: A Socio-functional Perspective —Taking a Chinese Dialect Episode: Go! The Whole Family as an Example

    Directory of Open Access Journals (Sweden)

    Meixia Li

    2015-11-01

    Full Text Available Males have had greatest authorities in Chinese families since ancient times. However, it can be sensed that their authorities in families are declining in recent decades. Then such questions arise: first, are there any concrete evidences that can show us that Chinese male’s authority in families is declining? Second, what are the underlying causes behind this declining trend? In this article, based on Halliday’s systemic-functional grammar, esp. the idea about the construction of interpersonal meaning through mood structure, and Bakhtin’s dialogue theory, we did quantitative and qualitative analyses of the data selected from a Chinese dialect episode: Go! The Whole Family. The study reveals that the declining of the Chinese male’s authority in the family has become a publicly recognized convention, and this declining trend is not simply a social phenomenon, rather, it also reflects the universal human nature, that is, the pursuit of equality and humanism.Keywords: Chinese Male’s  authority; Declining; Underlying Causes; Universal Human Nature; Mood Structure; Dialogue Theory

  2. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

    Science.gov (United States)

    Adam, Ronja; Spier, Isabel; Zhao, Bixiao; Kloth, Michael; Marquez, Jonathan; Hinrichsen, Inga; Kirfel, Jutta; Tafazzoli, Aylar; Horpaopan, Sukanya; Uhlhaas, Siegfried; Stienen, Dietlinde; Friedrichs, Nicolaus; Altmüller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Kayser, Katrin; Thiele, Holger; Holinski-Feder, Elke; Marra, Giancarlo; Kristiansen, Glen; Nöthen, Markus M; Büttner, Reinhard; Möslein, Gabriela; Betz, Regina C; Brieger, Angela; Lifton, Richard P; Aretz, Stefan

    2016-08-01

    In ∼30% of families affected by colorectal adenomatous polyposis, no germline mutations have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and NTHL1, although a hereditary etiology is likely. To uncover further genes with high-penetrance causative mutations, we performed exome sequencing of leukocyte DNA from 102 unrelated individuals with unexplained adenomatous polyposis. We identified two unrelated individuals with differing compound-heterozygous loss-of-function (LoF) germline mutations in the mismatch-repair gene MSH3. The impact of the MSH3 mutations (c.1148delA, c.2319-1G>A, c.2760delC, and c.3001-2A>C) was indicated at the RNA and protein levels. Analysis of the diseased individuals' tumor tissue demonstrated high microsatellite instability of di- and tetranucleotides (EMAST), and immunohistochemical staining illustrated a complete loss of nuclear MSH3 in normal and tumor tissue, confirming the LoF effect and causal relevance of the mutations. The pedigrees, genotypes, and frequency of MSH3 mutations in the general population are consistent with an autosomal-recessive mode of inheritance. Both index persons have an affected sibling carrying the same mutations. The tumor spectrum in these four persons comprised colorectal and duodenal adenomas, colorectal cancer, gastric cancer, and an early-onset astrocytoma. Additionally, we detected one unrelated individual with biallelic PMS2 germline mutations, representing constitutional mismatch-repair deficiency. Potentially causative variants in 14 more candidate genes identified in 26 other individuals require further workup. In the present study, we identified biallelic germline MSH3 mutations in individuals with a suspected hereditary tumor syndrome. Our data suggest that MSH3 mutations represent an additional recessive subtype of colorectal adenomatous polyposis. PMID:27476653

  3. 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. PMID:19149145

  4. 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.

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

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    Fang Hu

    2014-10-01

    Full Text Available 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.2417_2418insG:p.E806fs, 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.2417_2418insG:p.E806fs, 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 an effective and economic approach for the comprehensive molecular diagnosis of RP.

  6. 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.

  7. 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

  8. Reexamining the relationships among dementia, stigma, and aging in immigrant Chinese and Vietnamese family caregivers.

    Science.gov (United States)

    Liu, Dandan; Hinton, Ladson; Tran, Cindy; Hinton, Devon; Barker, Judith C

    2008-09-01

    Prior literature emphasizes that Asian Americans with dementia may be particularly vulnerable to the stigma of chronic and severe mental illness. However, there is a dearth of empirical research to support this claim. This study examines the relationship of stigma and dementia in 32 qualitative interviews with Chinese and Vietnamese family caregivers. Stigma was a common theme in the interviews (91%). Further analysis revealed two sources: the stigma of chronic and severe mental illness and a stigma reflecting negative stereotypes of aging or the aged. Chinese and Vietnamese cultural views of normal aging are not unitary but accommodate different trajectories of aging, some more and some less desired. When applied to persons with dementia, a "normalized" but negative trajectory of aging carried with it significant stigma that was distinct from but in addition to the stigma of chronic and severe mental illness. Older Chinese and Vietnamese with dementia are thus at risk of experiencing multiple stigmas that include but go beyond the stigma associated with chronic and severe mental illness. PMID:18665444

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

    Directory of Open Access Journals (Sweden)

    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

  10. Parent Training With High-Risk Immigrant Chinese Families: A Pilot Group Randomized Trial Yielding Practice-Based Evidence

    OpenAIRE

    Lau, Anna S.; Fung, Joey J.; Ho, Lori Y.; Liu, Lisa L.; Gudiño, Omar G.

    2011-01-01

    We studied the efficacy and implementation outcomes of a culturally responsive parent training (PT) program. Fifty-four Chinese American parents participated in a wait-list controlled group randomized trial (32 immediate treatment, 22 delayed treatment) of a 14-week intervention designed to address the needs of high-risk immigrant families. Parents were eligible for intervention if they were Chinese-speaking immigrants referred from schools, community clinics, or child protective services wit...

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

    International Nuclear Information System (INIS)

    Highlights: ► We report the characterization of a four-generation large Chinese family with ADOA. ► We find a new heterozygous mutation c.C1198G in OPA1 gene which may be a novel pathogenic mutation in this pedigree. ► We do not find any mitochondrial DNA mutations associated with optic atrophy. ► 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.

  12. 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.

  13. Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families

    Directory of Open Access Journals (Sweden)

    Luning Sun

    2011-01-01

    Full Text Available Mucopolysaccharidosis type I (MPS I arises from a deficiency in the α-L-iduronidase (IDUA enzyme. Although the clinical spectrum in MPS I patients is continuous, it was possible to recognize 3 phenotypes reflecting the severity of symptoms, viz., the Hurler, Scheie and Hurler/Scheie syndromes. In this study, 10 unrelated Chinese MPS I families (nine Hurler and one Hurler/Scheie were investigated, and 16 mutant alleles were identified. Three novel mutations in IDUA genes, one missense p.R363H (c.1088G > A and two splice-site mutations (c.1190-1G > A and c.792+1G > T, were found. Notably, 45% (nine out of 20 and 30% (six out of 20 of the mutant alleles in the 10 families studied were c.1190-1G > A and c.792+1G > T, respectively. The novel missense mutation p.R363H was transiently expressed in CHO cells, and showed retention of 2.3% IDUA activity. Neither p.W402X nor p.Q70X associated with the Hurler phenotype, or even p.R89Q associated with the Scheie phenotype, was found in this group. Finally, it was noted that the Chinese MPS I patients proved to be characterized with a unique set of IDUA gene mutations, not only entirely different from those encountered among Europeans and Americans, but also apparently not even the same as those found in other Asian countries.

  14. GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

    Science.gov (United States)

    Han, Ruifang; Wang, Xiaojuan; Wang, Dongjie; Wang, Liming; Yuan, Zhongfang; Ying, Ming; Li, Ningdong

    2015-01-01

    The ocular albinism type I (OA1) is clinically characterized by impaired visual acuity, nystagmus, iris hypopigmentation with translucency, albinotic fundus, and macular hypoplasia together with normally pigmented skin and hair. However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA1 caused by the G-protein coupled receptor 143 (GPR143) gene mutations. Mutations in the FERM domain-containing 7 (FRMD7) gene are responsible for the X-linked congenital idiopathic nystagmus. In this study, five Chinese families initially diagnosed as X-linked congenital nystagmus were recruited and patients underwent ophthalmological examinations. After direct sequencing of the FRMD7 and GPR143 genes, five mutations in GPR143 gene were detected in each of the five families, including a novel nonsense mutation of c.333G>A (p.W111X), two novel splicing mutations of c.360+1G>C and c.659-1G>A, a novel small deletion mutation of c.43_50dupGACGCAGC (p.L20PfsX25), and a previously reported missense mutation of c.703G>A (p.E235K). Optical coherence tomography (OCT) examination showed foveal hypoplasia in all the affected patients with nystagmus. Our study further expands the GPR143 mutation spectrum and contributes to the study of GPR143 molecular pathogenesis. Molecular diagnosis and optical coherence tomography (OCT) are two useful tools for differential diagnosis. PMID:26160353

  15. 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. PMID:9120405

  16. 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.

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

    DEFF Research Database (Denmark)

    Knudsen, Anne Louise; Bülow, Steffen

    2001-01-01

    combination with tamoxifen. Surgery may be considered in case of a small and well-defined DT with no signs of invasionof 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...

  18. 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.

  19. 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

  20. Immigrant-Chinese and Euro-American parents' physical closeness with young children: themes of family relatedness.

    Science.gov (United States)

    Rothbaum, F; Morelli, G; Pott, M; Liu-Constant, Y

    2000-09-01

    This study examined cultural differences in the expression and meaning of physical closeness. Findings indicated that immigrant-Chinese parents, as compared with Euro-American parents, sleep in closer proximity with their children; more often view independence as children growing with the family; are more likely to emphasize the family unit; and place greater importance on inhibition of expression, adherence to correct values, and hierarchy of relations. Euro-Americans, by contrast, are more accepting of nudity; place more emphasis on psychological benefits of physical closeness and on the child's expression of wants and feelings; more often view independence as celebrating the child's distinctiveness; and place greater importance on intimacy, pleasure, and spousal exclusiveness. The authors suggest that closeness is characterized by an overarching theme of harmony in immigrant-Chinese families and by an overarching theme of romance in Euro-American families. PMID:11025928

  1. 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.

  2. 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.

  3. Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia.

    Science.gov (United States)

    Zhou, Zhifan; Hu, Zhengmao; Zhang, Lu; Hu, Zhaoting; Liu, Haihong; Liu, Zhening; Du, Juan; Zhao, Jingping; Zhou, Lin; Xia, Kun; Tang, Bengsha; Shen, Lu

    2016-01-01

    Schizophrenia (SCZ) is a serious psychiatric disease with strong heritability. Its complexity is reflected by extensive genetic heterogeneity and much of the genetic liability remains unaccounted for. We applied a combined strategy involving detection of copy number variants (CNVs), whole-genome mapping, and exome sequencing to identify the genetic basis of autosomal-dominant SCZ in a Chinese family. To rule out pathogenic CNVs, we first performed Illumina single nucleotide polymorphism (SNP) array analysis on samples from two patients and one psychiatrically healthy family member, but no pathogenic CNVs were detected. In order to further narrow down the susceptible region, we conducted genome-wide linkage analysis and mapped the disease locus to chromosome 7q21.13-22.3, with a maximum multipoint logarithm of odds score of 2.144. Whole-exome sequencing was then carried out with samples from three affected individuals and one unaffected individual in the family. A missense variation c.9575 C > G (p.Thr3192Ser) was identified in RELN, which is known as a risk gene for SCZ, located on chromosome 7q22, in the pedigree. This rare variant, as a highly penetrant risk variant, co-segregated with the phenotype. Our results provide genetic evidence that RELN may be one of pathogenic gene in SCZ. PMID:27071546

  4. 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. PMID:26822593

  5. Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

    OpenAIRE

    Huang, Xiangjun; Deng, Xiong; Xu, Hongbo; Wu, Song; Yuan, Lamei; Yang, Zhijian; Yang, Yan; DENG, HAO

    2015-01-01

    Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral deformities. Exome sequencing and Sanger sequencing were performed in a Chinese Han family with typical SEDC, and a novel mutation, c.620G>A (p.Gly207Glu), in the collagen type II alpha-1 gene (COL2A1) was identified. The mutation may impair protein stability, and lead to dysfunction of type II collagen. Family-based study sugge...

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

    OpenAIRE

    Ye Jing; Han Jun; Shi Qi; Zhang Bao-Yun; Wang Gui-Rong; Tian Chan; Gao Chen; Chen Jian-Min; Li Cun-Jiang; Liu Zheng; Li Xian-Zhang; Zhang Lai-Zhong; Dong Xiao-Ping

    2008-01-01

    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 dement...

  7. 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.

  8. 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

  9. 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

  10. 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.

  11. 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.

  12. Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families

    International Nuclear Information System (INIS)

    We report here the clinical, genetic, and molecular characterization of five Chinese families with Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. Strikingly, there were extremely low penetrances of visual impairment in these Chinese families. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical ND4 G11696A mutation associated with LHON. Indeed, this mutation is present in homoplasmy only in the maternal lineage of those pedigrees but not other members of these families. In fact, the occurrence of the G11696A mutation in these several genetically unrelated subjects affected by visual impairment strongly indicates that this mutation is involved in the pathogenesis of visual impairment. Furthermore, the N405D in the ND5 and G5820A in the tRNACys, showing high evolutional conservation, may contribute to the phenotypic expression of G11696A mutation in the WZ10 pedigree. However, there was the absence of functionally significant mtDNA mutations in other four Chinese pedigrees carrying the G11696A mutation. Therefore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic expression of the LHON-associated G11696A mutation in these Chinese pedigrees

  13. Economic Disadvantage, Perceived Family Life Quality, and Emotional Well-Being in Chinese Adolescents: A Longitudinal Study

    Science.gov (United States)

    Shek, Daniel T. L.

    2008-01-01

    Over three consecutive years, Chinese secondary school students experiencing and not experiencing economic disadvantage (n = 280 and 2,187, respectively) responded to measures of perceived family life quality (parenting attributes and parent-child relational quality) and emotional well-being (hopelessness, mastery, life satisfaction and…

  14. 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.

  15. A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.

    Science.gov (United States)

    Yang, Jing; Wang, Honglian; Yin, Kunlun; Hua, Baolai; Zhu, Tienan; Zhao, Yongqiang; Guo, Shubin; Yu, Xuezhong; Wu, Wei; Zhou, Zhou

    2015-07-10

    Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme of the heme biosynthetic pathway. Establishing accurate diagnoses of the patient and asymptomatic family members with AIP involves identifying the PBGD enzyme mutations directly. Genetic testing provides a precise diagnosis for the patient and other asymptomatic family members, and thereby proper treatments can be initiated to prevent the disease from progressing. In this study, we report a novel PBGD missense mutation, A G-to-C, at the position 988 resulting in Alanine to Proline (Ala330Pro), in a Chinese family. PMID:25870942

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  18. Language Attitudes and Heritage Language Maintenance among Chinese Immigrant Families in the USA

    Science.gov (United States)

    Zhang, Donghui; Slaughter-Defoe, Diana T.

    2009-01-01

    This qualitative study investigates attitudes toward heritage language (HL) maintenance among Chinese immigrant parents and their second-generation children. Specific attention is given to exploring (1) what attitudes are held by the Chinese parents and children toward Chinese language maintenance in the USA, (2) what efforts are engaged in by the…

  19. Keratin 13 mutations associated with oral white sponge nevus in two Chinese families

    Directory of Open Access Journals (Sweden)

    Wenping Cai

    2014-12-01

    Full Text Available White sponge nevus (WSN is an autosomal dominant hereditary disease. Keratin 4 (KRT4 and Keratin 13 (KRT13 gene mutations were involved in the WSN. We recruited two WSN Chinese families, and oral lesion biopsy with hematoxylin and eosin staining showed that patients had significant pathological characteristics. The mutations of KRT4 and KRT13 gene were detected by PCR and direct sequencing. The multiple alignments of KRT13 from 23 diverse species homology analyses were performed by the ClustalW program. The KRT13 expression was measured by Real-Time RT-PCR and Western blot analysis. Sequencing analysis revealed two mutations of KRT13 gene: one mutation was 332T>C and amino acid change was Leu111Pro. Another mutation was 340C>T and amino acid change was Arg114Cys. The sequence of KRT13 was highly conserved. Real-Time RT-PCR and Western blot analysis results show that KRT13 expression level is lower in patient but keep almost no change in mRNA level. When cells were treated with MG132, KRT13 protein level was increased and kept almost the same in normal and patient cells. We identified two heritable mutations in the KRT13 gene, which were associated with the development of WSN. The abnormal degradation of KRT13 protein of WSN may probably associate with the abnormal ubiquitination process.

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

    Directory of Open Access Journals (Sweden)

    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.

  1. 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.

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

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    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.

  3. Brief Report: Family cancer history affecting risk of colorectal cancer in a prospective cohort of Chinese women

    OpenAIRE

    Murphy, Gwen; Shu, Xiao Ou; Gao, Yu-Tang; Ji, Bu-Tian; Cook, Michael Blaise; YANG, Gong; Li, Hong-Lan; Rothman, Nathaniel; Zheng, Wei; Chow, Wong-Ho

    2009-01-01

    An elevated risk of colorectal cancer has been associated with sporadic colorectal cancer in first degree relatives, mostly in Western populations. Limited data exists from traditionally low-risk areas, such as Asia, where the prevalence of risk factors may differ. We examined the association of family history of cancer and subsequent colorectal cancer risk in a cohort of traditionally low-risk Chinese women.

  4. Differences in lifestyle behaviors, dietary habits, and familial factors among normal-weight, overweight, and obese Chinese children and adolescents

    OpenAIRE

    Guo Xiaofan; Zheng Liqiang; Li Yang; Yu Shasha; Sun Guozhe; Yang Hongmei; Zhou Xinghu; Zhang Xingang; Sun Zhaoqing; Sun Yingxian

    2012-01-01

    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. A...

  5. Re-examining the relationships among dementia, stigma, and aging in immigrant Chinese and Vietnamese family caregivers

    OpenAIRE

    Liu, Dandan; Hinton, Ladson; Tran, Cindy; Hinton, Devon; Barker, Judith C.

    2008-01-01

    Prior literature emphasizes that Asian Americans with dementia may be particularly vulnerable to the stigma of chronic mental illness. However, there is a dearth of empirical research to support this claim. This study examines the relationship of stigma and dementia in 32 qualitative interviews with Chinese and Vietnamese family caregivers. Stigma was a common theme in the interviews (91%). Further analysis of stigma revealed two sources: chronic mental illness stigma and stigma reflecting ne...

  6. Factors Associated with Parent-Child (Dis)Agreement on Child Behavior and Parenting Problems in Chinese Immigrant Families

    Science.gov (United States)

    Fung, Joey J.; Lau, Anna S.

    2010-01-01

    We examined familial and cultural factors predicting parent-child (dis)agreement on child behavior and parenting problems. Immigrant Chinese parents (89.7% mothers; M age = 44.24 years) and their children (62 boys; 57.9%) between the ages of 9 and 17 years (M = 11.9 years, SD = 2.9) completed measures of parent punitive behavior and child…

  7. 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. PMID:27232103

  8. Complete mtDNA genomes reveal similar penetrances of maternally inherited type 2 diabetes in two Chinese families.

    Science.gov (United States)

    Yang, Ying; Zhou, Taicheng; Peng, Minsheng; Liu, Yongying; Li, Yiping; Wang, Huawei; Irwin, David M; Zhang, Yaping

    2016-05-01

    Previous work suggests that mitochondrial DNA (mtDNA) derived from the maternal genome has a close affinity with type 2 diabetes. This would support a familial pattern for type 2 diabetes. Thereby, we analyzed complete mtDNA genomes from two families, A and B, from Southwest China that demonstrated maternally inherited type 2 diabetes. Our data support that mtDNA lineages from families A and B belong to haplogroups A4 and D4h1, respectively. This suggests that maternally inherited type 2 diabetes with similar penetrances can arise in Chinese individuals with strikingly different maternal genetic backgrounds. Two private coding region mutations (G13759A in MT-ND5 and G15930A in tRNA-Thr) were identified in family B. Further evolutionary and phylogenetic analyses suggest that both these mutations have multiple origins and are unlikely to be disease causing. PMID:25469813

  9. Structural basis of the Axin–adenomatous polyposis coli interaction

    OpenAIRE

    Spink, Katharine Eklof; Polakis, Paul; Weis, William I.

    2000-01-01

    Axin and the adenomatous polyposis coli (APC) tumor suppressor protein are components of the Wnt/Wingless growth factor signaling pathway. In the absence of Wnt signal, Axin and APC regulate cytoplasmic levels of the proto-oncogene β-catenin through the formation of a large complex containing these three proteins, glycogen synthase kinase 3β (GSK3β) and several other proteins. Both Axin and APC are known to be critical for β-catenin regulation, and truncations in APC that eliminate the Axin-b...

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

    OpenAIRE

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

    2006-01-01

    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 va...

  11. Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation

    International Nuclear Information System (INIS)

    We report here the characterization of a five-generation large Chinese family with Leber's hereditary optic neuropathy (LHON). Very strikingly, six affected individuals of 38 matrilineal relatives (17 females/21 males) are exclusively males in this Chinese family. These matrilineal relatives in this family exhibited late-onset/progressive visual impairment with a wide range of severity, ranging from blindness to normal vision. The age of onset in visual impairment varies from 17 to 30 years. Sequence analysis of the complete mitochondrial genome in this pedigree revealed the presence of the G11778A mutation in ND4 gene and 29 other variants. This mitochondrial genome belongs to the Southern Chinese haplogroup B5b. We showed that the G11778A mutation is present at near homoplasmy in matrilineal relatives of this Chinese family but not in 164 Chinese controls. Incomplete penetrance of LHON in this family indicates the involvement of modulatory factors in the phenotypic expression of visual dysfunction associated with the G11778A mutation. However, none of other mtDNA variants are evolutionarily conserved and implicated to have significantly functional consequence. Thus, nuclear modifier gene(s) or environmental factor(s) seem to account for the penetrance and phenotypic variability of LHON in this Chinese family carrying the G11778A mutation

  12. 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.

  13. 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…

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

    Directory of Open Access Journals (Sweden)

    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.

  15. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

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    Yun Wang

    Full Text Available Oculocutaneous albinism (OCA is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR and OCA2 gene, respectively.The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families.Four non-consanguineous OCA families were included in the study. The TYR and OCA2 genes of all individuals were amplified by polymerase chain reaction (PCR, sequenced and compared with a reference database.Four patients with a diagnosis of oculocutaneous albinism, presented with milky skin, white or light brown hair and nystagmus. Genetic analyses demonstrated that patient A was compound heterozygous for c.1037-7T.A, c.1037-10_11delTT and c.1114delG mutations in the TYR gene; patient B was heterozygous for c.593C>T and c.1426A>G mutations in the OCA2 gene, patients C and D were compound heterozygous mutations in the TYR gene (c.549_550delGT and c.896G>A, c.832C>T and c.985T>C, respectively. The heterozygous c.549_550delGT and c.1114delG alleles in the TYR gene were two novel mutations. Interestingly, heterozygous members in these pedigrees who carried c.1114delG mutations in the TYR gene or c.1426A>G mutations in the OCA2 gene presented with blond or brown hair and pale skin, but no ocular disorders when they were born; the skin of these patients accumulated pigment over time and with sun exposure.This study expands the mutation spectrum of oculocutaneous albinism. It is the first time, to the best of our knowledge, to report that c.549_550delGT and c.1114delG mutations in the TYR gene were associated with OCA. The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene may be responsible for partial clinical manifestations of OCA.

  16. Effort-Reward Imbalance at School and Depressive Symptoms in Chinese Adolescents: The Role of Family Socioeconomic Status

    Directory of Open Access Journals (Sweden)

    Hongxiang Guo

    2014-06-01

    Full Text Available Depression is a major mental health problem during adolescence. This study, using a sample of Chinese adolescents, examined the separate and combined effects of perceived school-related stress and of family socioeconomic status (SES on the prevalence of depressive symptoms. A total of 1774 Chinese students from Grades 7–12 were recruited into our questionnaire survey. School-related stress was measured by the Effort-Reward Imbalance Questionnaire-School Version, family SES was assessed by a standardized question, and depressive symptoms were evaluated by the Center for Epidemiological Studies Depression Scale for Children. Multivariate logistic regression was applied, adjusting for age, gender, grade, smoking, alcohol drinking and physical activity. It was found that high school-related stress and low family SES were associated with elevated odds of depressive symptoms, respectively. The effect of school-related stress was particularly strong in low SES group. In adolescents with both high stress at school and low SES, the odds ratio was 9.18 (95% confidence interval = 6.53–12.89 compared to the reference group (low stress at school and high SES. A significant synergistic interaction effect was observed (synergy index = 2.28, 95% confidence interval = 1.56–3.32. The findings indicated that perceived school-related stress, in terms of effort-reward imbalance, was related to depressive symptoms in this sample of Chinese adolescents. The strong interaction with family SES suggests that health promoting efforts in school settings should be targeted specifically at these socially deprived groups.

  17. 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

    2016-01-01

    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. PMID:26784215

  18. 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…

  19. U.S. Families' Adoption of Chinese Daughters: A Narrative Analysis of Family Themes in Children's Books

    Science.gov (United States)

    Fitzpatrick, Jacki; Kostina-Ritchey, Erin

    2013-01-01

    The purpose of this qualitative study was to examine the ways in which family formation processes were presented in international children's adoption books. Guided by Pinderhughes' (1996) adoptive family development model, we conducted a content analysis for the representation of two developmental phases (anticipation and accommodation). A total…

  20. Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families

    International Nuclear Information System (INIS)

    We report here the clinical, genetic, and molecular characterization of three Chinese families with maternally transmitted Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. In the affected matrilineal relatives, the loss of central vision is bilateral, the fellow eye becoming affected either simultaneously (45%) or sequentially (55%). The penetrances of vision loss in these pedigrees were 27%, 50%, and 60%, respectively. The age-at-onset of vision loss in these families was 14, 19, and 24 years, respectively. Furthermore, the ratios between affected male and female matrilineal relatives were 1:1, 1:1.2, and 1:2, respectively. Mutational analysis of mitochondrial DNA revealed the presence of homoplasmic ND6 T14484C mutation, which has been associated with LHON. The incomplete penetrance and phenotypic variability implicate the involvement of nuclear modifier gene(s), environmental factor(s) or mitochondrial haplotype(s) in the phenotypic expression of the LHON-associated T14484C mutation in these Chinese pedigrees

  1. 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.

  2. Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)

    OpenAIRE

    Zhou, Zhou; Hu, Shanshan; Wang, Binbin; Zhou, Nan; Zhou, Shiyi; Ma, Xu; Qi, YanHua

    2010-01-01

    Purpose To identify the genetic defects in a three-generation Chinese family with congenital nuclear cataract. Methods Four patients and three healthy members from the family underwent complete physical and ophthalmic examinations. Genomic DNA was extracted from peripheral blood leukocytes of the family members as well as from 100 healthy normal controls. Polymerase chain reaction (PCR) amplification and direct sequencing of all coding exons of candidate genes were performed. The functional c...

  3. Chinese familial tradition and Western influence: a case study in Singapore on decision making at the end of life.

    Science.gov (United States)

    Ho, Zheng Jie Marc; Radha Krishna, Lalit Kumar; Yee, Chung Pheng Alethea

    2010-12-01

    Decision making for an incompetent patient at the end of life is difficult for both family members and physicians alike. Often, palliative care teams are tasked with weaving through opinions, emotions, and goals in search for an amenable solution. Occasionally, these situations get challenging. We present the case of an elderly Chinese Singaporean with metastatic cancer, whose family and physicians had conflicting goals of care. The former was adamant on treating the patient's disease with an untested drug, whereas the latter aimed to treat his symptoms with more conventional medication. Drug-drug interactions prevented treatment with both. Beginning with a discussion of the patient's best interest, we delve into the Singaporean context to show how culture affects medical decision making. Confucianism and filial piety are the values on which this family's workings were based. In an analysis of what this entails, we attempt to explain the significant and assertive family involvement in the decision-making process and their insistence on using novel medications, having exhausted conventional interventions. Within this mix were Western influences, too. Through the Internet, family members have become more informed and empowered in decision making, wresting the traditional paternalistic role of physicians in favor of "patient autonomy." An understanding of such dynamic facets will help better tailor culturally appropriate approaches to such complex situations. PMID:21145471

  4. Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia.

    Directory of Open Access Journals (Sweden)

    Haihong Wang

    Full Text Available Familial hypercholesterolemia (FH is an autosomal dominant disease that primarily results from mutations in the low-density lipoprotein receptor (LDLR gene. We investigated two unrelated Chinese FH patients using gene screening and functional analysis to reveal the pathogenicity and the mechanism by which these mutations cause FH.First, the LDLR gene was sequenced in these patients. Then, mutant receptors were transfected into human embryo kidney 293 (HEK-293 cells, and a confocal laser-scanning microscope was used to observe the localization of mutant proteins. Further, the expression and the internalization activity were analyzed by flow cytometry. Finally, LDLR protein expression and stability was detected by western blot.Two different LDLR class 2B mutations were detected in two patients. The C201F mutation is a known mutation. However, the G615V mutation is novel. Flow cytometry showed that the expression and internalization activity of the mutant LDLRs were reduced to 73.6% and 82.6% for G615V and 33.2% and 33.5% for C201F, respectively.This study identified two LDLR mutations in Chinese patients with FH and analyzed the relationship between the genotype and phenotype of these patients. We found that these mutant LDLRs were defective in transport, which led to a reduction in cholesterol clearance. These results increase our understanding of the mutational spectrum of FH in the Chinese population.

  5. 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.

  6. 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.

  7. Life Strain, Social Control, Social Learning, and Delinquency: The Effects of Gender, Age, and Family SES Among Chinese Adolescents.

    Science.gov (United States)

    Bao, Wan-Ning; Haas, Ain; Xie, Yunping

    2016-09-01

    Very few studies have examined the pathways to delinquency and causal factors for demographic subgroups of adolescents in a different culture. This article explores the effects of gender, age, and family socioeconomic status (SES) in an integrated model of strain, social control, social learning, and delinquency among a sample of Chinese adolescents. ANOVA is used to check for significant differences between categories of demographic groups on the variables in the integrated model, and the differential effects of causal factors in the theoretical path models are examined. Further tests of interaction effects are conducted to compare path coefficients between "high-risk" youths (i.e., male, mid-teen, and low family SES adolescents) and other subgroups. The findings identified similar pathways to delinquency across subgroups and clarified the salience of causal factors for male, mid-teen, and low SES adolescents in a different cultural context. PMID:25850102

  8. Adenomatous Polyps Of The Gallbladder” Adenomas oF the Gallbladder

    OpenAIRE

    Attilio Maria Farinon; Antonio Pacella; Francesco Cetta; Mario Sianesi

    1991-01-01

    The finding of adenomatous polyps of the gallbladder is a rare occurrence and an unusual clinical problem. Among 2,145 patients who underwent cholecystectomy for gallbladder disease only 9 (0.4 per cent) presented with adenomatous polyps. There were 6 women and 3 men, aged 17 to 70 years. Preoperative ultrasonographic diagnosis was made in only 1 of 7 patients with gallstones, in contrast polypoid lesions within a gallbladder without stones were easily confirmed by both ultrasonography and or...

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

    OpenAIRE

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

    2016-01-01

    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.

  10. 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

    2016-01-01

    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. PMID:27065090

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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. PMID:23985471

  13. The purchase of intimacy : Chinese urban one-child families in housing consumption

    OpenAIRE

    Zhong, Xiaohui; 钟晓慧

    2014-01-01

    This study examines the changes of family life and relationships in urban China with reference to the filial piety and intimacy theories as well as the individualization thesis. It takes housing consumption as an entry point and focuses on the intergenerational relations in one-child families. It adopts qualitative research methods to explore consumption practices and the meanings attached to these actions and events for these families. I conducted in-depth interviews with 22 families (mi...

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

    Directory of Open Access Journals (Sweden)

    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.

  15. 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.

  16. 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,…

  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. Parent Involvement in Children's Education: An Exploratory Study of Urban, Chinese Immigrant Families

    Science.gov (United States)

    Ji, Cheng Shuang; Koblinsky, Sally A.

    2009-01-01

    This exploratory study examined the involvement of Chinese immigrant parents in children's elementary and secondary education. Participants were 29 low-income, urban parents of public school children working primarily in the hospitality sector. Parents were interviewed about their academic expectations, knowledge of school performance, parent…

  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. 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,…

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

    Directory of Open Access Journals (Sweden)

    Junhui Hao

    2016-03-01

    Full Text Available 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

  2. 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

    2016-03-01

    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. PMID:26999175

  3. 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. PMID:27408766

  4. 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. PMID:27408766

  5. Obstacles of Organizational Learning and Self-transcendence: Theoretical Research Based on Chinese Family Business

    Directory of Open Access Journals (Sweden)

    Mengyun Wu

    2012-10-01

    Full Text Available Family enterprises widely exist in countries of the world. No matter in quantity or in scale, family enterprise takes a great share of world economy and occupies a very important position in national economy. Nowadays, research on family enterprise turns to be the focus of theoretic research in all countries, and organizational learning is also thought to be the key issue of family enterprises to survive, develop and maintain competitive advantages. However, the obstacles in learning are difficult questions and may weaken family enterprises’ core competence. Thus, the article starts with the basic meaning of obstacles in organizational learning, analyzes their influence factors from several aspects (learning process, organization’s ideas and culture, and puts forward the countermeasures for enhancing organizational learning ability of family enterprises.

  6. 中韩家庭剧空间表现的文化意蕴%Cultural Connotations of Settings in Chinese and Korean Family Dramas

    Institute of Scientific and Technical Information of China (English)

    吴玉杰

    2014-01-01

    中韩家庭剧的空间表现不同,韩国家庭剧表现的空间主要是城市家庭,在日常生活中展现大家庭的魅力;而中国家庭剧的表现空间以家庭为中心,向外多维延展,包括广阔的社会场景和复杂的人物关系。表现空间的不同暗含着中韩家庭剧不同的审美追求与文化意蕴,韩国家庭剧执着于日常生活审美,彰显儒家伦理的现代生命之华,并潜隐一定的性别倾向性;而中国家庭剧追求审美的多元化,但同时凸显比较强的社会问题意识。%There are differences in the settings between Chinese and Korean family dramas.Korean family dramas are mostly set in contemporary families, portraying the daily lives of large families, while Chinese family se-ries, though focusing on family, expand their settings to a multidimensional extent, incorporating wider social situa-tions and complicated relations among characters.The differences in settings imply the differences in aesthetics and cultural connotations between Chinese and Korean family dramas.Korean family dramas concentrate their aesthetic pursuit on everyday life, highlighting the modern life out of Confucian ethics, as well as insinuating certain gender propensities.Meanwhile, Chinese family dramas focus on aesthetic diversity, though putting strong awareness on social issues.

  7. Desiring mobiles, desiring education: mobile phones and families in a rural Chinese Town

    OpenAIRE

    McDonald, T.

    2016-01-01

    This chapter draws on ethnographic data to examine the relationship between mobile communication technologies (especially mobile phones) and learning in a small rural town in north China. Building on a wide body of literature that emphasises the enduring importance of education within Chinese culture, this chapter demonstrates how contemporary attitudes towards learning become constructed and expressed through mobile phone use. The chapter illustrates how most rural parents regard mobile phon...

  8. Self-Perceived Creativity, Family Hardiness, And Emotional Intelligence Of Chinese Gifted Students In Hong Kong

    Science.gov (United States)

    Chan, David W.

    2005-01-01

    This study assessed the self-perceptions of 212 gifted students regarding their creativity, family hardiness, and emotional intelligence. There were in general no gender and age group differences on these self-perceptions, with the exception that younger students perceived their families as more hardy than did older students. The results of…

  9. Supporting Families and Developing Parent Advocates and Leaders among the Immigrant Chinese Community in Boston

    Science.gov (United States)

    Ng, Elaine

    2013-01-01

    Nationally, many resources are spent on programs to ameliorate poor educational and economic outcomes for our children and families, in particular for urban and immigrant families. Programs like the federally funded Head Start, Community Development Block Grants, and thousands of nonprofits across the nation provide out-of-school-time academic and…

  10. 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.

  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, California Earthquake Authority, Governor's Office of Emergency Services, New America Media, U.S. Department of Homeland Security Federal Emergency Management Agency, and U.S. Geological Survey

    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. Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.

    Science.gov (United States)

    Liu, Ying; Yu, Xiaoyan; Wang, Lei; Li, Chang; Archacki, Stephen; Huang, Changzheng; Liu, Jing Yu; Wang, Qing; Liu, Mugen; Tang, Zhaohui

    2012-01-10

    X-linked recessive hypohidrotic ectodermal dysplasia (XLHED) is characterized by the defective morphogenesis of teeth, hair, and eccrine sweat glands. It is associated with mutations in the EDA gene. Up to now, more than 100 mutations in the EDA gene have been reported to cause XLHED. The product of EDA gene is a trimeric type II transmembrane protein that belongs to the tumor necrosis factor (TNF) family of ligands. In this study, we identified a Chinese family with XLHED. Direct DNA sequencing of the whole coding region of EDA revealed a novel missense mutation, p.Leu354Pro in a patient affected with XLHED. This mutation was not found in either unaffected male individuals of the family or 168 normal controls. The substitution of Leu354 with Pro was found to be located in the TNF-like domain of EDA and may influence the epithelial signaling pathway required for the normal ectodermal development through altering the topology of EDA. Our finding broadens the spectrum of EDA mutations and may help to understand the molecular basis of XLHED and aid genetic counseling. PMID:22008666

  13. 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.

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

    OpenAIRE

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

    2012-01-01

    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 current study examined how unsupportive parenting and parent-child sense of alienation sequentially mediate the relationship between parent-child acculturation discrepancy and child adjustment during early and middle adolescence. Acculturation discrepancy scores were created using multilevel modeling to take into account t...

  15. 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. PMID:27234610

  16. 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.

  17. 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.

  18. 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. PMID:25133412

  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. Taking the Role of the Family Seriously in Treating Chinese Psychiatric Patients: A Confucian Familist Review of China's First Mental Health Act.

    Science.gov (United States)

    Fan, Ruiping; Wang, Mingxu

    2015-08-01

    This essay argues that the Chinese Mental Health Act of 2013 is overly individualistic and fails to give proper moral weight to the role of Chinese families in directing the process of decision-making for hospitalizing and treating the mentally ill patients. We present three types of reactions within the medical community to the Act, each illustrated with a case and discussion. In the first two types of cases, we argue that these reactions are problematic either because they comply with the law but undermine the patient's interests by refusing the family's request to have the patient hospitalized, or violate the law by hospitalizing patients in response to the real concerns of their families. In the third type of situation, psychiatrists inappropriately encourage families to produce evidence of the patient's behavior that is harmful to self or others in order legally to commit the patient. Each of these problems, we conclude, should be tackled by supplementing Article 30 of the Act with the stipulation that a psychiatrist may authorize the involuntary hospitalization of a patient, who is not at risk of causing physical harm to self or others, with the consent of all major family members. Drawing on the deeply culturally embedded moral traditions of Confucian medical familism, this proposal would facilitate the proper treatment of a significant number of Chinese mentally ill patients under the care of their families. PMID:26049082

  1. 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; Qiu, Weimin; Chi, Leiting; Li, Yunqing; Su, Zhiguang

    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...

  2. Punitive Discipline and Child Behavior Problems in Chinese-American Immigrant Families: The Moderating Effects of Indigenous Child-Rearing Ideologies

    Science.gov (United States)

    Fung, Joey J.; Lau, Anna S.

    2009-01-01

    In a sample of 107 Chinese immigrant families we examined whether cultural child-rearing beliefs moderated the association between parents' use of punitive discipline and children's behavioral adjustment. Immigrant parents and their children aged 7 to 17 years completed measures of parental discipline and child behavior problems. Parents also…

  3. Analysis of mtDNA sequence variants in colorectal adenomatous polyps

    Directory of Open Access Journals (Sweden)

    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

  4. Parent–Adolescent Discrepancies in Perceived Parenting Characteristics and Adolescent Developmental Outcomes in Poor Chinese Families

    OpenAIRE

    Leung, Janet T. Y.; Shek, Daniel T. L.

    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...

  5. 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.

  6. 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.

  7. A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II

    International Nuclear Information System (INIS)

    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

  8. Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis

    Science.gov (United States)

    Hes, Frederik J; Ruano, Dina; Nieuwenhuis, Marry; Tops, Carli M; Schrumpf, Melanie; Nielsen, Maartje; Huijts, Petra E A; Wijnen, Juul T; Wagner, Anja; Gómez García, Encarna B; Sijmons, Rolf H; Menko, Fred H; Letteboer, Tom G W; Hoogerbrugge, Nicoline; Harryvan, Jan; Kampman, Ellen; Morreau, Hans; Vasen, Hans F A; van Wezel, Tom

    2013-01-01

    Background Colorectal adenomatous polyposis is associated with a high risk of colorectal cancer (CRC) and is frequently caused by germline mutations in APC or MUTYH. However, in about 20–30% of patients no underlying gene defect can be identified. In this study, we tested if recently identified CRC risk variants play a role in patients with >10 adenomas. Methods We analysed a total of 16 SNPs with a reported association with CRC in a cohort of 252 genetically unexplained index patients with >10 colorectal adenomas and 745 controls. In addition, we collected detailed clinical information from index patients and their first-degree relatives (FDRs). Results We found a statistically significant association with two of the variants tested: rs3802842 (at chromosome 11q23, OR=1.60, 95% CI 1.3 to 2.0) and rs4779584 (at chromosome 15q13, OR=1.50, 95% CI 1.2 to 1.9). The majority of index patients (84%) had between 10 and 100 adenomas and 15% had >100 adenomas. Only two index patients (1%), both with >100 adenomas, had FDRs with polyposis. Forty-one per cent of the index patients had one or more FDRs with CRC. Conclusions These SNPs are the first common, low-penetrant variants reported to be associated with adenomatous polyposis not caused by a defect in the APC, MUTYH, POLD1 and POLE genes. Even though familial occurrence of polyposis was very rare, CRC was over-represented in FDRs of polyposis patients and, if confirmed, these relatives will therefore benefit from surveillance. PMID:24253443

  9. 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

  10. Parental Acculturative Stressors and Adolescent Adjustment Through Interparental and Parent-Child Relationships in Chinese American Families.

    Science.gov (United States)

    Hou, Yang; Kim, Su Yeong; Wang, Yijie

    2016-07-01

    Perpetual foreigner stereotype and bicultural management difficulty are two understudied acculturative stressors frequently experienced by Asian Americans. This study expanded the family stress model to examine how parental experiences of these two acculturative stressors relate to measures of adolescent adjustment (depressive symptoms, delinquent behaviors, and academic performance) during high school and emerging adulthood through interparental and parent-child relationship processes. Participants were 350 Chinese American adolescents (M age  = 17.04, 58 % female) and their parents in Northern California. Path models showed that parental acculturative stressors positively related to parent-child conflict, either directly (for both mother-adolescent and father-adolescent dyads) or indirectly through interparental conflict (for mother-adolescent dyads only). Subsequently, both interparental and parent-child conflict positively related to a sense of alienation between parents and adolescents, which then related to more depressive symptoms, more delinquent behaviors, and lower academic performance in adolescents, for mother-adolescent and father-adolescent dyads. These effects persisted from high school to emerging adulthood. The results highlight the indirect effects of maternal and paternal acculturative stressors on adolescent adjustment through family processes involving interparental and parent-child relationships. PMID:26885827

  11. 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…

  12. Marital Quality, Maternal Depressed Affect, Harsh Parenting, and Child Externalising in Hong Kong Chinese Families

    Science.gov (United States)

    Chang, Lei; Lansford, Jennifer E.; Schwartz, David; Farver, Joann M.

    2004-01-01

    The present study used a family systems approach to examine harsh parenting, maternal depressed affect, and marital quality in relation to children's externalising behaviour problems in a sample of 158 Hong Kong primary school children. At two time points, peers and teachers provided ratings of children's externalising behaviours, and mothers…

  13. Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia.

    Directory of Open Access Journals (Sweden)

    Wen-Feng Wu

    Full Text Available Familial hypercholesterolemia is an autosomal dominant inherited disease characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C. It is mainly caused by mutations of the low-density lipoprotein receptor (LDLR gene. Currently, the methods of whole genome sequencing or whole exome sequencing for screening mutations in familial hypercholesterolemia are not applicable in China due to high cost. We performed targeted exome sequencing of 167 genes implicated in the homozygous phenotype of a proband pedigree to identify candidate mutations, validated them in the family of the proband, studied the functions of the mutant protein, and followed up serum lipid levels after treatment. We discovered that exon 9 c.1268 T>C and exon 8 c.1129 T>G compound heterozygous mutations in the LDLR gene in the proband derived from the mother and father, respectively, in which the mutation of c.1129 T>G has not been reported previously. The mutant LDL-R protein had 57% and 52% binding and internalization functions, respectively, compared with that of the wild type. After 6 months of therapy, the LDL-C level of the proband decreased by more than 50% and the LDL-C of the other family members with heterozygous mutation also reduced to normal. Targeted exome sequencing is an effective method for screening mutation genes in familial hypercholesterolemia. The exon 8 and 9 mutations of the LDLR gene were pedigree mutations. The functions of the mutant LDL-R protein were decreased significantly compared with that of the wild type. Simvastatin plus ezetimibe was proven safe and effective in this preschool-age child.

  14. Genetic diagnosis of Liddle's syndrome by mutation analysis of SCNN1B and SCNN1G in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    WANG Lin-ping; FAN Xiao-han; JIANG Xiong-jing; ZHANG Hui-min; HUI Ru-tai; GAO Ling-gen; ZHOU Xian-liang; WU Hai-ying; ZHANG Lin; WEN Dan; LI Yue-hua; LIU Ya-xin; TIAN Tao

    2012-01-01

    Background Liddle's syndrome is a rare autosomal-dominant monogenic form of salt-sensitive hypertension.This study aimed to screen the gene mutation in β and y subunits of the epithelial sodium channel (ENaC) of a Chinese family with Liddle's syndrome,an autosomal dominant form of hypertension.Methods DNA samples from the proband with early-onset,treatment-resistant hypertension and suppressed plasma renin activity were initially screened for mutations in the C-terminal exons of the ENaC β or Y subunit genes,usingamplification by polymerase chain reaction and direct DNA sequencing.We also screened the C-terminus of SCNN1B and SCNN1G in family members,and screened for the mutation in 150 controls.Results Genetic analysis of the β ENaC gene revealed a missense mutation of CCC to TCC at codon 616 in the proband,her mother and her grandmother.One hundred and fifty randomly selected controls had not the mutation,indicating that this is not a common genetic polymorphism.There was no mutation of the Y ENaC gene in any of the individuals examined.Conclusions Through direct DNA sequencing analysis,we established the diagnosis of Liddle's syndrome for the proband and her families,and provided tailored therapies to this abnormality.These results provide further evidence that Pro616Ser is a critical amino acid that has a key role in the inhibition of sodium channel activity.

  15. 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.

  16. Virtual Home Library System—— Let every Chinese family having their own libraries

    OpenAIRE

    Cao, Jianxiang; Song, Shu; Wu, Bin; Wen RU

    2009-01-01

    Virtual Home Library (VHL) is an integrated IT system that utilizes virtual reality technology and an IPTV set-top box (STB) to virtually construct a ‘library’ and the relevant reading environment on televisions in people’s home. Unlike the online e-book reading applications, Virtual Home Library can be applied on televisions – the world’s most convenient and most efficient communication tool. Providing extended digital library services, it will be a perfect group reading utility for family r...

  17. 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...

  18. The experiences and needs of Chinese-Canadian stroke survivors and family caregivers as they re-integrate into the community.

    Science.gov (United States)

    Yeung, Emily H L; Szeto, Amy; Richardson, Denyse; Lai, Suk-han; Lim, Eva; Cameron, Jill I

    2015-09-01

    Stroke is a leading cause of adult disability and community re-integration is a priority for stroke rehabilitation. In North America, we have a growing population of individuals whose first language is not English. Little is known about the experiences of visible minorities living in North America as they re-integrate into the community post stroke or how these experiences change over time. Specifically, this research aimed to explore the experiences and needs of Chinese stroke survivors and family caregivers as they return to community living using the Timing it Right Framework as a conceptual guide. We recruited Cantonese-speaking stroke survivors and family caregivers from outpatient rehabilitation programmes. Using qualitative interviews conducted in Cantonese or English, we examined their experiences and needs as they return to community living and explored the influence of culture and time on their experiences. The interviews were transcribed and translated, and then analysed using framework analysis. Using framework analysis, we coded the data corresponding to the phases of the Timing it Right framework to determine the influence of time on the themes. We interviewed five Cantonese-speaking stroke survivors and 13 caregivers in 2009. We identified two main themes: (i) Participants' education and support needs change over time and (ii) Chinese resources are needed across care environments. These resources include access to care in their preferred language, traditional Chinese medicine, and Chinese food during their recovery and rehabilitation. To optimise Chinese stroke survivors' and caregivers' community re-integration, healthcare professionals should provide timely and accessible education and be aware of the role of Chinese diet and traditional medicine in stroke survivors' rehabilitation. PMID:25443438

  19. Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation

    International Nuclear Information System (INIS)

    Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here the clinical, genetic, and molecular characterization of four Chinese pedigrees with aminoglycoside-induced and nonsyndromic hearing impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects, although these subjects share some common features: bilateral and sensorineural hearing impairment. Strikingly, these Chinese pedigrees exhibited extremely low penetrance of hearing loss (5.2%, 4.8%, 4.2%, and 13.3%, respectively, and with an average 8% penetrance). In particular, four of all five affected matrilineal relatives of these pedigrees had aminoglycoside-induced hearing loss. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical homoplasmic A1555G mutation, associated with hearing impairment in many families from different genetic backgrounds. The fact that mtDNA of those pedigrees belonged to different haplogroups R9a, N9a, D4a, and D4 suggested that the A1555G mutation occurred sporadically and multiplied through evolution of the mtDNA in China. However, there was the absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in these Chinese families. These data imply that the nuclear background or/and mitochondrial haplotype may not play a significant role in the phenotypic expression of the A1555G mutation in these Chinese pedigrees. However, aminoglycoside appears to be a major modifier factor for the phenotypic manifestation of the A1555G mutation in these Chinese families

  20. 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.

  1. The fidelity of mutans streptococci transmission and caries status correlate with breast-feeding experience among Chinese families.

    Science.gov (United States)

    Li, Y; Wang, W; Caufield, P W

    2000-01-01

    Our previous study reported that the fidelity of mutans streptococci (MS) transmission from mother to infant was gender- and race-specific within a Birmingham, Ala., population. We hypothesized that fidelity might be a function of postnatal nurturing practices. The purpose of the present study was to investigate those factors that could be correlated with MS transmission among Chinese children whose nurturing histories were known. Forty-eight families with 2- to 3-year-old children were selected from two kindergartens of Beijing, China. A questionnaire concerning the childhood nursing practice was obtained from the parents. Dental caries status was examined, and bacterial samples were collected for all participants twice at 6-month intervals. An average of six isolates of MS was picked at random from selective medium from each individual at each visit. Chromosomal DNA fingerprints were performed for all MS isolates to determine the genomic similarity within each family and among individuals. The results showed that 66% of the children at 2-3 years of age harbored MS, and 46% were caries-active. Of those children, 70% were breast-fed. Among the children whose chromosomal DNA fingerprint genotypes of MS matched that of their mothers, 88% were breast-fed compared with only 12% who were not breast-fed (p = 0.03). We also found that children who were breast-fed for more than 9 months were likely to harbor strains of MS common to their mothers (p = 0.04) and experience more dental caries (dmft = 4.4) at 3 years of age compared with children who were breast-fed less than 9 months (dmft = 1.4, p = 0.04). The data suggest that breast-feeding, especially prolonged breast-feeding, may correlate with the fidelity of transmission and that prolonged breast-feeding may contribute to a higher caries rate. PMID:10773629

  2. Novel mutations in FZD4 and phenotype–genotype correlation in Chinese patients with familial exudative vitreoretinopathy

    Science.gov (United States)

    Tang, Miao; Ding, Xiaoyan; Li, Jiaqing; Hu, Andina; Yuan, Miner; Yang, Yu; Zhan, Zongyi; Li, Zijing

    2016-01-01

    Purpose To identify novel mutations in the frizzled 4 (FZD4) gene in patients with familial exudative vitreoretinopathy (FEVR) in southern China and to delineate the mutation-associated clinical manifestations. Methods Clinical data and genomic DNA were collected from 100 probands and their family members. The coding regions of FZD4 were screened for mutations with PCR and Sanger sequencing. Cosegregation analysis was used to verify suspected variants, and clinical symptoms in the probands were analyzed. Results Fourteen causative heterozygous mutations in FZD4 in 21 unrelated probands were noted, in 21.0% of the index patients (21/100). Four novel missense mutations (C45R, C45S, C53S, and C90R) and three novel deletion mutations (T326fsX356, G492fsX512, and S345_A351del) with a high possibility of pathogenicity were detected. None of these mutations were found in current online databases and 150 ethnically matched control subjects without retinopathy. The majority of the mutations in FZD4 were identified in probands with retinal folds (15/21) and ectopic macula (5/21). No mutations in FZD4 were found in probands with complete tractional retinal detachment in infancy or with mild asymptomatic FEVR in adulthood. Conclusions Seven novel mutations found in this study have broadened the spectrum of mutations in FZD4 known to cause FEVR, providing a deeper understanding of this disease. The results show that mutations in FZD4 are associated with the phenotypes of retinal folds or ectopic macula in FEVR but might not be associated with extreme severe bilateral FEVR during infancy, at least in southern Chinese patients. PMID:27555740

  3. 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. PMID:27133550

  4. Polipose gastroduodenal em doentes com polipose adenomatosa familiar Pós-Retocolectomia Gastroduodenal polyposis in patients with familiar adenomatous polyposis after rectocolectomy

    Directory of Open Access Journals (Sweden)

    Raquel Franco Leal

    2007-06-01

    Full Text Available RACIONAL: As manifestações extracólicas, como os pólipos gastroduodenais e o tumor do duodeno, são fatores que influenciam a morbimortalidade dos doentes com polipose adenomatosa familiar no seguimento pós-retocolectomia total. OBJETIVO: Investigar a freqüência destas alterações em doentes com polipose adenomatosa familiar e verificar a eficácia do rastreamento endoscópico. MÉTODO:No período de 1984 a 2005, 62 doentes com polipose adenomatosa familiar pós-retocolectomia foram estudados retrospectivamente pelo Grupo de Coloproctologia da Faculdade de Ciências Médicas da Universidade Estadual de Campinas, SP. O tempo de seguimento médio pós-operatório foi de 81,9 meses, sendo que em 53 (85,5% foi possível analisar a ocorrência de pólipos gastroduodenais. RESULTADOS: Dos 53 doentes em seguimento, 27 (50,9% apresentavam pólipos gastroduodenais. Em 8 (15,4% os pólipos adenomatosos eram gástricos, 14 (27% pólipos duodenais e 5 (9,6% pólipos gástricos e duodenais. Dois doentes (3,8% desenvolveram adenoma duodenal com displasia de alto grau. E outro (1,9%, adenocarcinoma em papila duodenal. CONCLUSÃO: O rastreamento endoscópico, desta forma, é de grande importância e o objetivo é detectar, o mais precocemente possível, os casos de adenocarcinoma duodenal e pólipos gastroduodenais com displasia de alto grau.BACKGROUND: The extra colonic manifestations, like upper gastrointestinal tract polyps and duodenal cancer are disorders that affect long-term morbidity and mortality of patients with familial adenomatous polyposis, after rectocolectomy. AIM: To describe the frequency of those disorders in patients with familial adenomatous polyposis and to review efficacy of upper gastrointestinal endoscopic surveillance. METHODS: Between 1984 and 2005, 62 patients with familial adenomatous polyposis after rectocolectomy, were studied retrospectively, by Coloproctology Group, Medical Sciences Faculty, State University of Campinas

  5. 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

  6. Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation

    OpenAIRE

    Wang, Xue; Xin, Qian; Li, Lin; Li, Jiangxia; Zhang, Changwu; Qiu, Rongfang; Qian, Chenmin; Zhao, Hailing; Liu, Yongchao; Shan, Shan; Dang, Jie; Bian, Xianli; Shao, Changshun; Gong, Yaoqin; Liu, Qiji

    2013-01-01

    Split-hand/foot malformation (SHFM) is a congenital limb deformity due to the absence or dysplasia of central rays of the autopod. Six SHFM loci have already been identified. Here we describe a Chinese family with autosomal-dominant SHFM1 that has previously been mapped to 7q21.2-21.3. The two affected family members, mother and son, showed deep median clefts between toes, ectrodactyly and syndactyly; the mother also showed triphalangeal thumbs. Exome sequencing and variant screening of candi...

  7. Blood is not always thicker than water: The limited effect of kin selection on human kinship in the traditional Chinese family

    Directory of Open Access Journals (Sweden)

    Lixing Sun

    2010-04-01

    Full Text Available To examine the importance of kin selection in shaping human societies, this study analyzed the kinship system practiced in traditional China for two millennia and teased apart its underlying genetic and other, presumably cultural, components. The results demonstrate that, in the traditional patrilineal Chinese family, both genetic relatedness and the cultural factor of generation were important in determining kinship status for male agnates (genetically related relatives. For female agnates, however, only genetic relatedness was important. Another surprising finding was that the influence of gender was not as important as genetic relatedness. The most interesting finding in this study, however, was that kin selection and culture (i.e., seniority in generation and age played vastly different roles in different lineages in the Chinese family: for collateral (indirect agnates, genetic relatedness was the most important factor in determining their kinship status, but for lineal (direct agnates, its importance was overridden by seniority in generation and age, a cultural factor. Several other bio-cultural factors also explained a considerable amount of variance in kinship status. Since kinship profoundly affected, and was often the foundation of, the legal and social systems in dynastic China, kin selection, while its strength may differ remarkably between lineal and collateral relatives, could act as a selective force in Chinese families [Current Zoology 56 (2: 182–189, 2010].

  8. Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment

    Directory of Open Access Journals (Sweden)

    Hong-Yang Wang

    2015-01-01

    Full Text Available 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.Y136FNx01 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.

  9. Development and Iterative Refinement of an Internet-based Service for Chinese Family Caregivers of People with Alzheimer Disease

    OpenAIRE

    Chiu, T.; Lottridge, D.

    2005-01-01

    This poster reports on the developmental phase of a new internet-based support services (ICSS) for Chinese caregivers of people with Alzheimer Disease (AD): a specialized email application and an informational website. Bilingual Chinese caregivers wanted internet-based information in both Chinese and English. Usability testing and heuristic evaluation results revealed that the interface successfully supported the core functionality, but can be refined to improve usability.

  10. 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

  11. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness

    International Nuclear Information System (INIS)

    Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here the clinical, genetic, and molecular characterization of 16 Chinese pedigrees (a total of 246 matrilineal relatives) with aminoglycoside-induced impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects, although these subjects share some common features: being bilateral and sensorineural hearing impairment. Strikingly, these Chinese pedigrees exhibited extremely low penetrance of hearing loss, ranging from 4% to 18%, with an average of 8%. In particular, nineteen of 246 matrilineal relatives in these pedigrees had aminoglycoside-induced hearing loss. Mutational analysis of the mtDNA in these pedigrees showed the presence of homoplasmic 12S rRNA A1555G mutation, which has been associated with hearing impairment in many families worldwide. The extremely low penetrance of hearing loss in these Chinese families carrying the A1555G mutation strongly supports the notion that the A1555G mutation itself is not sufficient to produce the clinical phenotype. Children carrying the A1555G mutation are susceptible to the exposure of aminoglycosides, thereby inducing or worsening hearing impairment, as in the case of these Chinese families. Using those genetic and molecular approaches, we are able to diagnose whether children carry the ototoxic mtDNA mutation. Therefore, these data have been providing valuable information and technology to predict which individuals are at risk for ototoxicity, to improve the safety of aminoglycoside therapy, and eventually to decrease the incidence of deafness

  12. 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; Norup, P; Thorpe, S M

    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 ...

  13. 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.

  14. Power, Resistance, and Emotional Economies in Women's Relationships with Mothers-in-Law in Chinese Immigrant Families

    Science.gov (United States)

    Shih, Kristy Y.; Pyke, Karen

    2010-01-01

    This interview study interrogates how cultural values of filial piety inform Chinese American daughters-in-law's understanding of their relationship and power dynamics with immigrant Chinese American mothers-in-law. Ideals of filial respect accord limited authority to mothers-in-law, who engage other mechanisms of power, such as their domestic…

  15. 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。

  16. Characterization of Adenomatous Polyposis Coli Protein Dynamics and Localization at the Centrosome

    OpenAIRE

    Christina Lui; Myth T. S. Mok; Henderson, Beric R.

    2016-01-01

    The adenomatous polyposis coli (APC) tumor suppressor is a multifunctional regulator of Wnt signaling and acts as a mobile scaffold at different cellular sites. APC was recently found to stimulate microtubule (MT) growth at the interphase centrosome; however, little is known about its dynamics and localization at this site. To address this, we analysed APC dynamics in fixed and live cells by fluorescence microscopy. In detergent-extracted cells, we discovered that APC was only weakly retained...

  17. A novel function of adenomatous polyposis coli (APC) in regulating DNA repair

    OpenAIRE

    Jaiswal, Aruna S.; Narayan, Satya

    2008-01-01

    Prevailing literature suggests diversified cellular functions for the adenomatous polyposis coli (APC) gene. Among them a recently discovered unique role of APC is in DNA repair. The APC gene can modulate the base excision repair (BER) pathway through an interaction with DNA polymerase β (Pol-β) and flap endonuclease 1 (Fen-1). Taken together with the transcriptional activation of APC gene by alkylating agents and modulation of BER activity, APC may play an important role in carcinogenesis an...

  18. Effects of vitamin antioxidant supplementation on cell kinetics of patients with adenomatous polyps.

    OpenAIRE

    Cahill, R J; O'Sullivan, K R; Mathias, P M; Beattie, S.; Hamilton, H; O'Morain, C

    1993-01-01

    Colonic crypt cell proliferation is used as an indicator of risk of colorectal carcinoma. Subjects with adenomatous polyps and cancer have an increased cell proliferation and a shift of the proliferative zone towards the apex of the crypt. Epidemiological and in vitro studies have confirmed a link between vitamins A, E, C, beta-carotene, and colorectal cancer. In vitro bromodeoxyuridine immunohistochemical technique was used to assess the effect of daily oral supplementation with vitamin E (1...

  19. PERCEPTION OF FAMILY RESPONSIBILITIES FROM THE SYMBOL OF CHINESE CHARACTERS%从汉字符号中感知家庭责任

    Institute of Scientific and Technical Information of China (English)

    陈从志

    2012-01-01

    The family is the basic organizational form in society and building harmonious family and a socialist harmonious society have consistent orientation. Building a harmonious family requires that family members should be reasonable, exhibit their morals and do their duties in accordance with their own identity. The paper interprets the cultural elements the Chinese character symbol contains with a view to helping people to deeply understand the family, thus perceive the qualities family members should possess and comply with the norms and bear their own responsibilities.%家庭是社会的基本组织形式,构建和谐家庭与构建社会主义和谐社会具有目标指向的一致性。构建和谐家庭就需要家庭成员按照自己的身份,明其理,显其德,尽其责。通过诠释汉字符号所蕴含的文化元素,帮助人们深刻地理解家庭,进而感知家庭成员应具备的素质、遵从的规范和肩负的责任。

  20. 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. PMID:26805944

  1. MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer families

    OpenAIRE

    Zhou, Heng-Hua; Yan, Shi-Yan; Zhou, Xiao-Yan; Du, Xiang; Zhang, Tai-Ming; Cai, Xu; Lu, Yong-Ming; Cai, San-Jun; Shi, Da-Ren

    2008-01-01

    AIM: To detect the MLH1 gene promoter germline-methylation 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.

  2. 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 ...

  3. Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A)

    Science.gov (United States)

    Dong, Xiangbai; Wang, Zixing; Hu, Qingang; Chen, Meng; Hua, Zi-Chun

    2008-01-01

    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. PMID:18545687

  4. 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.

  5. Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss

    International Nuclear Information System (INIS)

    We report here the clinical, genetic, and molecular characterization of two Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects. Penetrances of hearing loss in BJ105 and BJ106 pedigrees are 67% and 33%, respectively. In particular, three of 10 affected matrilineal relatives of BJ105 pedigree had aminoglycoside-induced hearing loss, while seven affected matrilineal relatives in BJ105 pedigree and six affected matrilineal relatives in BJ106 pedigree did not have a history of exposure to aminoglycosides. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the identical homoplasmic A1555G mutation and distinct sets of mtDNA variants belonging to haplogroups F3 and M7b. These variants showed no evolutionary conservation, implying that mitochondrial haplotype may not play a significant role in the phenotypic expression of the A1555G mutation in these Chinese pedigrees. However, aminoglycosides and nuclear backgrounds appear to be major modifier factors for the phenotypic manifestation of the A1555G mutation in these Chinese families

  6. A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome

    Science.gov (United States)

    Jiang, Shujuan; Zhang, Jiubin; Huang, Dan; Zhang, Yuanyuan; Liu, Xiaoliang; Wang, Yinzhao; He, Rong; Zhao, Yanyan

    2014-01-01

    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. PMID:25380522

  7. 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.

  8. Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome.

    Science.gov (United States)

    Gai, Nan; Jiang, Chen; Zou, Yong-Yi; Zheng, Yu; Liang, De-Sheng; Wu, Ling-Qian

    2016-07-01

    Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive disorder, which is characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness, and delayed psychomotor development. SIL1, which is located at 5q31.2, is the only gene known to cause MSS. Dandy-Walker syndrome (DWS) is defined by hypoplasia, upward rotation of the cerebellar vermis, and cystic dilation of the fourth ventricle; however, its genetic pathogeny remains unclear. Here, we report a Chinese consanguineous family with MSS and DWS. Whole exome sequencing identified a novel nonstop mutation in SIL1. Sanger sequencing revealed that the mutation was segregated in this family according to a recessive mode of inheritance. We found that the mutation changed a stop codon (TGA) to an arginine codon (CGA), and no in-frame termination codon in the 3' untranslated region (UTR) of SIL1 could be found. The mRNA levels of SIL1 were decreased by 56.6% and 37.5% in immortalized lymphoblasts of the patients respectively; the protein levels of SIL1 were substantially decreased. This case study is the first report on Chinese MSS patients, MSS complicated by DWS, and a nonstop mutation in SIL1. Our findings imply the pathogenetic association between DWS and MSS. PMID:27106665

  9. 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.; Jarvinen, H.; Bjork, J.; Christensen, Ib Jarle

    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...... and proctectomy was compared before and after 1990 by Kaplan-Meier analysis. RESULTS: In the prepouch period 56/576 patients (10 percent) developed rectal cancer, vs. 4/200 (2 percent) in the pouch period. Neither the cumulative risk of rectal cancer (p = 0.07) nor the cumulative risk of proctectomy...

  10. 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...

  11. 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...

  12. 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

    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 in the...... 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 for...

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

    OpenAIRE

    Oktay Algin; Sehnaz Evrimler; Evrim Ozmen; Melike Metin; Osman Ersoy; Mustafa Karaoglanoglu

    2012-01-01

    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 p...

  14. 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

    Background and aim: Duodenal adenomatosis in FAP results in a cancer risk that increases with age. Endoscopic surveillance has been recommended, but the effect has not yet been documented. The aim of this study is to present results of long-term duodenal surveillance and to evaluate the risk of...... (interquartile range 9-17). The cumulative lifetime risk of duodenal adenomatosis was 88% (95% CI 84-93), and of Spigelman stage IV 35% (95% CI 25-45). The Spigelman stage improved in 32 (12%), remained unchanged in 88 (34%) and worsened in 116 (44%). Twenty patients (7%) had duodenal cancer at a median age of...

  15. 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

    Background and aim:  Duodenal adenomatosis in FAP results in a cancer risk that increases with age. Endoscopic surveillance has been recommended, but the effect has not yet been documented. The aim of this study is to present results of long-term duodenal surveillance and to evaluate the risk of...... (interquartile range 9-17). The cumulative lifetime risk of duodenal adenomatosis was 88% (95% CI 84-93), and of Spigelman stage IV 35% (95% CI 25-45). The Spigelman stage improved in 32 (12%), remained unchanged in 88 (34%) and worsened in 116 (44%). Twenty patients (7%) had duodenal cancer at a median age of...

  16. 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

    Gardner syndrome is characterized by the triad of colorectal adenomas, soft and hard tissue tumors. This disorder was regarded as a separate disease until the identification of the APC gene when it was recognized that mutations in the APC gene were the underlying cause of both Gardner syndrome and...

  17. 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

    Gardner syndrome is characterized by the triad of colorectal adenomas, soft and hard tissue tumors. This disorder was regarded as a separate disease until the identification of the APC gene when it was recognized that mutations in the APC gene were the underlying cause of both Gardner syndrome and...

  18. Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families

    International Nuclear Information System (INIS)

    We report here the clinical, genetic, and molecular characterization of two Chinese families with aminoglycoside induced and non-syndromic hearing impairment. Clinical and genetic evaluations revealed the variable severity and age-of-onset in hearing impairment in these families. Strikingly, there were extremely low penetrances of hearing impairment in these Chinese families. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical G7444A mutation associated with hearing loss. Indeed, the G7444A mutation in the CO1 gene and the precursor of tRNASer(UCN) gene is present in homoplasmy only in the maternal lineage of those pedigrees but not other members of these families and 164 Chinese controls. Their mitochondrial genomes belong to the Eastern Asian haplogroups C5a and D4a, respectively. In fact, the occurrence of the G7444A mutation in these several genetically unrelated subjects affected by hearing impairment strongly indicates that this mutation is involved in the pathogenesis of hearing impairment. However, there was the absence of other functionally significant mtDNA mutations in two Chinese pedigrees carrying the G7444A mutation. Therefore, nuclear modifier gene(s) or aminoglycoside(s) may play a role in the phenotypic expression of the deafness-associated G7444A mutation in these Chinese pedigrees

  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. 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

  1. 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.

  2. Whole-Exome Sequencing to Decipher the Genetic Heterogeneity of Hearing Loss in a Chinese Family with Deaf by Deaf Mating

    Science.gov (United States)

    Qing, Jie; Yan, Denise; Zhou, Yuan; Liu, Qiong; Wu, Weijing; Xiao, Zian; Liu, Yuyuan; Liu, Jia; Du, Lilin; Xie, Dinghua; Liu, Xue Zhong

    2014-01-01

    Inherited deafness has been shown to have high genetic heterogeneity. For many decades, linkage analysis and candidate gene approaches have been the main tools to elucidate the genetics of hearing loss. However, this associated study design is costly, time-consuming, and unsuitable for small families. This is mainly due to the inadequate numbers of available affected individuals, locus heterogeneity, and assortative mating. Exome sequencing has now become technically feasible and a cost-effective method for detection of disease variants underlying Mendelian disorders due to the recent advances in next-generation sequencing (NGS) technologies. In the present study, we have combined both the Deafness Gene Mutation Detection Array and exome sequencing to identify deafness causative variants in a large Chinese composite family with deaf by deaf mating. The simultaneous screening of the 9 common deafness mutations using the allele-specific PCR based universal array, resulted in the identification of the 1555A>G in the mitochondrial DNA (mtDNA) 12S rRNA in affected individuals in one branch of the family. We then subjected the mutation-negative cases to exome sequencing and identified novel causative variants in the MYH14 and WFS1 genes. This report confirms the effective use of a NGS technique to detect pathogenic mutations in affected individuals who were not candidates for classical genetic studies. PMID:25289672

  3. 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.

  4. A novel mutation, IVS2-2AgG, associated with acute intermittent porphyria in a Chinese family.

    Science.gov (United States)

    Jiao, Huang; Xianfeng, Zhang; Hui, Han; Yuhong, Zhan; Chu, Zhang

    2015-08-01

    Porphyria is a group of disorders caused by the accumulation of porphyrin and porphyrin precursors due to the abnormalities in certain enzymes that normally participate in the production of haem. We report a case of a woman with severe menstruation-related abdominal pain, hyponatraemia, and psychiatric symptoms. Excessive porphobilinogen was found in her urine. A new mutation in intron 2 (IVS2-2Ag→G), which had never previously been reported in patients with porphyria or in healthy Chinese population, was identified in the heterozygous state in the patient and her mother. PMID:26228342

  5. Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis

    NARCIS (Netherlands)

    Hes, F.J.; Ruano, D.; Nieuwenhuis, M.; Tops, C.M.; Schrumpf, M.; Nielsen, M.; Huijts, P.E.; Wijnen, J.T.; Wagner, A.; Garcia, E.B.; Sijmons, R.H.; Menko, F.H.; Letteboer, T.G.; Hoogerbrugge, N.; Harryvan, J.; Kampman, E.; Morreau, H.; Vasen, H.F.; Wezel, T. van

    2014-01-01

    BACKGROUND: Colorectal adenomatous polyposis is associated with a high risk of colorectal cancer (CRC) and is frequently caused by germline mutations in APC or MUTYH. However, in about 20-30% of patients no underlying gene defect can be identified. In this study, we tested if recently identified CRC

  6. Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis

    NARCIS (Netherlands)

    Hes, Frederik J.; Ruano, Dina; Nieuwenhuis, Marry; Tops, Carli M.; Schrumpf, Melanie; Nielsen, Maartje; Huijts, Petra E. A.; Wijnen, Juul T.; Wagner, Anja; Gomez Garcia, Encarna B.; Sijmons, Rolf H.; Menko, Fred H.; Letteboer, Tom G. W.; Hoogerbrugge, Nicoline; Harryvan, Jan; Kampman, Ellen; Morreau, Hans; Vasen, Hans F. A.; van Wezel, Tom

    2014-01-01

    Background Colorectal adenomatous polyposis is associated with a high risk of colorectal cancer (CRC) and is frequently caused by germline mutations in APC or MUTYH. However, in about 20-30% of patients no underlying gene defect can be identified. In this study, we tested if recently identified CRC

  7. Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

    International Nuclear Information System (INIS)

    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

  8. 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.

  9. Genetic variation at 8q24, family history of cancer, and upper gastrointestinal cancers in a Chinese population.

    Science.gov (United States)

    Tarleton, Heather P; Chang, Shen-Chih; Park, Sungshim Lani; Cai, Lin; Ding, Baoguo; He, Na; Hussain, Shehnaz K; Jiang, Qingwu; Mu, Li-Na; Rao, Jianyu; Wang, Hua; You, Nai-Chieh Y; Yu, Shun-Zhang; Zhao, Jin-Kou; Zhang, Zuo-Feng

    2014-03-01

    Genetic variation at 8q24 is associated with prostate, bladder, breast, colorectal, thyroid, lung, ovarian, UADT, liver and stomach cancers. However, a role for variation at 8q24 in familial clustering of upper gastrointestinal cancers has not been studied. In order to explore potential inherited susceptibility, we analyzed epidemiologic data from a population-based case-control study of upper gastrointestinal cancers from Taixing, China. The study population includes 204 liver, 206 stomach, and 218 esophageal cancer cases and 415 controls. Associations between 8q24 rs1447295, rs16901979, rs6983267 and these cancers were stratified by family history of cancer. Odds ratios and 95% confidence intervals were adjusted for potential confounders: age, sex, education, tobacco smoking, alcohol consumption, and BMI at interview. We also adjusted for hepatitis B and aflatoxin (liver cancer) and Helicobacter pylori (stomach cancer). In a dominant model, among those with a family history of cancer, rs1447295 was positively associated with liver cancer (OR(adj) 2.80; 95% CI 1.15-6.80). Heterogeneity was observed (P(heterogeneity) = 0.029) with rs6983267 and liver cancer, with positive association in the dominant model among those with a family history of cancer and positive association in the recessive model among those without a family history of cancer. When considered in a genetic risk score model, each additional 8q24 risk genotype increased the odds of liver cancer by two-fold among those with a family history of cancer (OR(adj) 2.00; 95% CI 1.15-3.47). These findings suggest that inherited susceptibility to liver cancer may exist in the Taixing population and that variation at 8q24 might be a genetic component of that inherited susceptibility. PMID:24030569

  10. Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

    Science.gov (United States)

    Wang, Xue; Xin, Qian; Li, Lin; Li, Jiangxia; Zhang, Changwu; Qiu, Rongfang; Qian, Chenmin; Zhao, Hailing; Liu, Yongchao; Shan, Shan; Dang, Jie; Bian, Xianli; Shao, Changshun; Gong, Yaoqin; Liu, Qiji

    2014-09-01

    Split-hand/foot malformation (SHFM) is a congenital limb deformity due to the absence or dysplasia of central rays of the autopod. Six SHFM loci have already been identified. Here we describe a Chinese family with autosomal-dominant SHFM1 that has previously been mapped to 7q21.2-21.3. The two affected family members, mother and son, showed deep median clefts between toes, ectrodactyly and syndactyly; the mother also showed triphalangeal thumbs. Exome sequencing and variant screening of candidate genes in the six loci known to be responsible for SHFM revealed a novel heterozygous mutation, c.558G>T (p.(Gln186His)), in distal-less homeobox 5 (DLX5). As DLX5 encodes a transcription factor capable of transactivating MYC, we also tested whether the mutation could affect DLX5 transcription acitivity. Results from luciferase reporter assay revealed that a mutation in DLX5 compromised its transcriptional activity. This is the first report of a mutation in DLX5 leading to autosomal-dominant SHFM1. PMID:24496061

  11. Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene.

    Science.gov (United States)

    Luo, Xiao-Yan; Li, Qiu; Tan, Qi; Yang, Huan; Xiang, Juan; Miao, Jing-Kun; Wang, Hua

    2016-07-01

    Lipoid proteinosis is a rare recessive genetic disorder caused by loss-of-function mutations to chromosome 1 at 1q21, the extracellular matrix protein 1 (ECM1) gene. Two children with lipoid proteinosis were reported from two unrelated Chinese families, both manifesting with a typical hoarse voice, white acne-like atrophic lesions and scarring on the skin, and beaded papules around the eyelids. The diagnosis had been confirmed by laboratory tests, skin biopsy and laryngoscope examination. Genomic DNA sequencing was performed for both children and their family members. The two children were treated with acitretin for 6 months and followed up for 1 year. Genomic DNA sequencing of the ECM1 gene showed a novel homozygous nonsense mutation of C1522>T (p.R508X) at exon 10 in one patient, and a novel compound heterozygote for a nonsense/frame-shift combination of mutations of R281X/1596delG at exons 7 and 10 in the other patient. The symptom of hoarse voice was improved by 6-month treatment with acitretin, while there was no improvement in the skin lesions. These results demonstrated that acitretin treatment may have efficacy for some of patients with lipoid proteinosis, with superior effect on laryngeal symptoms than skin lesions. However, the conclusive therapeutic effect and underlying mechanisms remain to be further investigated. PMID:26778481

  12. Evidence for association between Disrupted-in-schizophrenia 1 (DISC1 gene polymorphisms and autism in Chinese Han population: a family-based association study

    Directory of Open Access Journals (Sweden)

    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.

  13. The Nature of Interactions between Chinese Immigrant Families and Preschool Staff: How Culture, Class, and Methodology Matter

    Science.gov (United States)

    Heng, Tang T.

    2014-01-01

    While the parental involvement field has progressed from asking what the impact of parental involvement is to how we can better involve parents, research has lagged in finding out how sociocultural and class differentials between homes and schools affect immigrant families' interactions with schools. This case study uses ethnographic tools to…

  14. Family Background and Academic Performance of Chinese Students in Thailand%家庭背景与在泰中国留学生的学业表现

    Institute of Scientific and Technical Information of China (English)

    金茗海; 林易

    2012-01-01

    Based on a survey of the Chinese undergraduate students studying in Thailand,the research verifies many hypotheses about the relationship between a student’s family background and his academic performance.The result shows that the better one’s family background is,the more likely he is either among the academically best or the worst,while the students from disadvantaged families are more likely to be at the intermediate level.Their different levels of cognitive ability before going to Thailand and their different expectations for future employment could be the reasons behind these variations of their academic performance.%利用在泰国留学的中国本科生的调查数据,检验了关于家庭背景与学业表现之关系的若干假设。研究发现,家庭背景好的留学生,更可能学业表现优秀,但同时也更可能学业表现很差。家庭背景差的留学生,其学业则更可能处于中等水平。认为,留学生来泰国之前的认知能力培养,以及他们在毕业时对求职就业的不同预期,是造成这种家庭背景影响学业表现的可能原因。

  15. [Clinical significance of telomerase activity in precancerous lesion of the liver (adenomatous hyperplasia)].

    Science.gov (United States)

    Nishimoto, A; Miura, N; Oshimura, M

    1998-05-01

    To understand the role of telomere dynamics in hepatocellular carcinogenesis, we examined the lengths of terminal restriction fragments (TRFs) in hepatocellular carcinoma (HCC) and surrounding tissues with chronic active hepatitis (CAH), liver cirrhosis (LC) and atypical adenomatous hyperplasia (AAH). The peak TRFs in all HCCs were significantly shorter than those of the surrounding tissues (CAH, LC). TRF in AAH was shortened and similar to that of HCC. Telomerase was examined in CAH, LC, AH, and HCC, and detected in high levels almost exclusively in HCCs. Interestingly, the intensity of telomerase activity in the AH was similar to that of HCC. Thus, the progressive shortening of telomere and the activation of telomerase may be a useful marker for the early detection of malignant progression in liver disease. PMID:9613131

  16. A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling

    Directory of Open Access Journals (Sweden)

    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 

  17. Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract

    Science.gov (United States)

    Ma, Ming-Fu; Li, Lian-Bing; Pei, Yun-Qi; Cheng, Zhi

    2016-01-01

    AIM To identify disease-causing mutation in a congenital cataract family using enrichment of targeted genes combined with next-generation sequencing. METHODS A total of 371 known genes related to inherited eye diseases of the proband was selected and captured, followed by high-throughput sequencing. The sequencing data were analyzed by established bioinformatics pipeline. Validation was performed by Sanger sequencing. RESULTS A recurrent heterozygous non-synonymous mutation c.130G>A (p.V44M) in the GJA3 gene was identified in the proband. The result was confirmed by Sanger sequencing. The mutation showed co-segregation with the disease phenotype in the family but was not detected in unaffected controls. CONCLUSION Targeted exome sequencing is a rapid, high-throughput and cost-efficient method for screening known genes and could be applied to the routine gene diagnosis of congenital cataract.

  18. Decision Making and the Adoption Process for American Families of Chinese Children: An Application of Rational Choice Theory

    OpenAIRE

    Bryant, Monica Raye

    2001-01-01

    Interviews were conducted with 20 parents in the US who have adopted one or more children from China. The study focuses on the motivation to adopt, decision making regarding adoption and the process in relation to rational choice theory. The interviews also inquired about their required adoption trip to China and the post-adoption adjustment phase including bonding and developmental delays, as well as about why families chose to adopt from China, how they learned about the adoption agency t...

  19. 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

  20. Problems Facing the Chinese Family Education System%家庭教育中的中国式问题

    Institute of Scientific and Technical Information of China (English)

    伊凡

    2014-01-01

    家庭教育是家庭生活的重要内容,家长实施家庭教育的水平不仅影响孩子的未来,也与家庭生活的幸福感息息相关。目前我国家庭教育具有一些与社会经济、文化相联系的特点,主要表现在:隔代教养、父教缺失、亲子交流时间少、“乖”孩子情结、攀比心理、性教育缺乏、家长缺乏学习与反思意识等方面,为了孩子的健康成长,父母亲需要齐心协力,共同承担教养责任,提升实施家庭教育的水平。%Family education is the key to having a satisfactory home life , and has a large impact on a child ’ s development and future choices. Currently,our nation’s family education is strongly associated with its economy and culture. The traditional family education system is lacking several important elements. Often grandparents are forced to be role models in lieu of parents. Also ,the father figure is often missing from the picture as he is frequently away from home with work. This in turn leads to a decrease in interaction between the parent and child,and topics such as sexual education are neglected. Other issues with our family education system include the need to promote more autonomy and independence,the negative effects of rivalry,and the parents’ inability to reflect on learned material with their children. In order for children to grow and reach their full potential , parents must work together to resolve these issues and thereby improve the state of education within the family.

  1. Evaluation of Essential Oil and its Three Main Active Ingredients of Chinese Chenopodium Ambrosioides (Family: Chenopodiaceae Against Blattella Germanica

    Directory of Open Access Journals (Sweden)

    Wei Xiang Zhu

    2012-12-01

    Full Text Available Background: The efficacy of essential oil of Chenopodium ambrosioides flowering aerial parts and its three mainactive ingredients was evaluated against Blattella germanica male adults.Methods: Composition of essential oil was determined by GC-MS. Topical application bioassay was used to evaluatecontact toxicity of essential oil and three main components. Fumigant toxicity of essential oil and its main components was measured using a sealed space method.Results: Twenty-two components were identified in the essential oil and the main components were (Z-ascaridole(29.7%, isoascaridole (13.0%, ρ-cymene (12.7% and piperitone (5.0%. The essential oil and (Z-ascaridole,isoascaridole and -cymene possessed fumigant toxicity against male German cockroaches with LC50 values of 4.13,0.55, 2.07 and 6.92 mg/L air, respectively. Topical application bioassay showed that all the three compounds weretoxic to male German cockroaches and (Z-ascaridole was the strongest with a LD50 value of 22.02 g/adult while the crude oil with a LD50 value of 67.46 g/adult.Conclusion: The essential oil from Chinese C. ambrosioides and its three main active ingredients may be explored as natural potential insecticides in the control of cockroaches.

  2. 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.

  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. 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.

  5. The two SAMP repeats and their phosphorylation state in Drosophila Adenomatous polyposis coli-2 play mechanistically distinct roles in negatively regulating Wnt signaling.

    Science.gov (United States)

    Kunttas-Tatli, Ezgi; Von Kleeck, Ryan A; Greaves, Bradford D; Vinson, David; Roberts, David M; McCartney, Brooke M

    2015-12-01

    The tumor suppressor Adenomatous polyposis coli (APC) plays a key role in regulating the canonical Wnt signaling pathway as an essential component of the β-catenin destruction complex. C-terminal truncations of APC are strongly implicated in both sporadic and familial forms of colorectal cancer. However, many questions remain as to how these mutations interfere with APC's tumor suppressor activity. One set of motifs frequently lost in these cancer-associated truncations is the SAMP repeats that mediate interactions between APC and Axin. APC proteins in both vertebrates and Drosophila contain multiple SAMP repeats that lack high sequence conservation outside of the Axin-binding motif. In this study, we tested the functional redundancy between different SAMPs and how these domains are regulated, using Drosophila APC2 and its two SAMP repeats as our model. Consistent with sequence conservation-based predictions, we show that SAMP2 has stronger binding activity to Axin in vitro, but SAMP1 also plays an essential role in the Wnt destruction complex in vivo. In addition, we demonstrate that the phosphorylation of SAMP repeats is a potential mechanism to regulate their activity. Overall our findings support a model in which each SAMP repeat plays a mechanistically distinct role but they cooperate for maximal destruction complex function. PMID:26446838

  6. Exercise test on the patients with normokalaemic periodic paralysis from a Chinese family with a mutation in the SCN4A gene

    Institute of Scientific and Technical Information of China (English)

    FENG Yu; ZHANG Ying; LIU Zhong-lan; ZHANG Chao-dong

    2008-01-01

    Background Normokalaemic periodic paralysis (normoKPP) is characterized by transient and recurrent myoasthenia,and some patients also show muscle stiffness induced by cold exposure (paramyotonia congenita, PMC). It is caused by a mutation in the muscle voltage gated sodium channel alpha subunit (SCN4A) gene. Due to the diversity of the clinical manifestations of patients, it is difficult for clinicians to differentiate some of patients with atypical normoKPP from those who suffer from other periodic paralysis and nondystrophic myotonia. So far, for normoKPP there are almost no ways to assist definite diagnosis besides genetic screening. This research was designed to evaluate an exercise test (ET) in confirming the diagnosis of normoKPP and in assessing the therapeutic effectiveness of some drugs on this disease.Methods ET, described by McMains, was performed on six subjects from a Chinese family, including four patients with overlapping disease of normoKPP and PMC caused by a mutation of SCN4A Met1592Val that is identified by genetic analysis and two normal control members. The change of compound muscle action potential (CMAP) was recorded.Besides the family, two patients were also tested during treatments with acetazolamide.Results All patients showed a slight increase in CMAP immediately after exercise, followed by an abnormal gradual decline, which reached its nadir 25-30 minutes after exercise. CMAP amplitude dropped by more than 40% in patients but less than 23% in controls. In the patients who received treatment with acetazolamide, the change of CMAP amplitude was less than 28% and, at any fixed times, less than pretreatment values.Conclusions The ET may be used as a predictive, easy and reliable method of diagnosing normoKPP under conditions without genetic screening help, and is an objective way to evaluate the therapeutic effectiveness. According to different response patterns, the ET may also be helpful in reducing the scope of genetic screening.

  7. 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.

  8. Identification of a Novel β-Globin Mutation (HBB: C.189_195delTCATGGC) in a Chinese Family.

    Science.gov (United States)

    He, Sheng; Lin, Li; Wei, Yuan; Chen, Biyan; Yi, Shang; Chen, Qiuli; Qiu, XiaoXia; Wei, Hongwei; Li, Guojian; Zheng, Chenguang

    2016-08-01

    β-Thalassemia (β-thal) is one of the most common genetic disorders worldwide. Molecular characterization of β-thal is essential for prevention and understanding the biology of the disease. More and more rare and novel mutations are being reported. Here, we report a novel 7 bp deletion at codons 63-65 (HBB: c.189_195delTCATGGC) in exon 2 of the β-globin gene in a family from Guangxi Province, China. This novel mutation causes a shift in the normal reading frame of the β-globin coding sequence and created a stop codon at codon 87 in exon 2, which leads to a β(0)-thal phenotype. PMID:27492766

  9. Adenomatous polyposis coli is required for early events in the normal growth and differentiation of the developing cerebral cortex

    OpenAIRE

    Price David J; Mason John O; Chen Yijing; Ivaniutsin Uladzislau; Pratt Thomas

    2009-01-01

    Abstract Background Adenomatous polyposis coli (Apc) is a large multifunctional protein known to be important for Wnt/β-catenin signalling, cytoskeletal dynamics, and cell polarity. In the developing cerebral cortex, Apc is expressed in proliferating cells and its expression increases as cells migrate to the cortical plate. We examined the consequences of loss of Apc function for the early development of the cerebral cortex. Results We used Emx1Cre to inactivate Apc specifically in proliferat...

  10. Adenomatous polyposis coli is required for early events in the normal growth and differentiation of the developing cerebral cortex

    OpenAIRE

    Ivaniutsin, Uladzislau; CHEN, Yijing; John O. MASON; Price, David; Pratt, Thomas

    2009-01-01

    Background: Adenomatous polyposis coli (Apc) is a large multifunctional protein known to be important for Wnt/beta-catenin signalling, cytoskeletal dynamics, and cell polarity. In the developing cerebral cortex, Apc is expressed in proliferating cells and its expression increases as cells migrate to the cortical plate. We examined the consequences of loss of Apc function for the early development of the cerebral cortex.Results: We used Emx1(Cre) to inactivate Apc specifically in proliferating...

  11. Different Roles for the Axin Interactions with the SAMP versus the Second Twenty Amino Acid Repeat of Adenomatous Polyposis Coli

    OpenAIRE

    Schneikert, Jean; Ruppert, Jan Gustav; Behrens, Jürgen; Wenzel, Eva Maria

    2014-01-01

    Wnt signalling is prevented by the proteosomal degradation of β-catenin, which occurs in a destruction complex containing adenomatous polyposis coli (APC), APC-like (APCL), Axin and Axin2. Truncating mutations of the APC gene result in the constitutive stabilisation of β-catenin and the initiation of colon cancer, although tumour cells tolerate the expression of wild-type APCL. Using the colocalisation of overexpressed Axin, APC and APCL constructs as a readout of interaction, we found that A...

  12. The Adenomatous polyposis coli tumour suppressor is essential for Axin complex assembly and function and opposes Axin's interaction with Dishevelled

    OpenAIRE

    Mendoza-Topaz, Carolina; Mieszczanek, Juliusz; Bienz, Mariann

    2011-01-01

    Most cases of colorectal cancer are linked to mutational inactivation of the Adenomatous polyposis coli (APC) tumour suppressor. APC downregulates Wnt signalling by enabling Axin to promote the degradation of the Wnt signalling effector β-catenin (Armadillo in flies). This depends on Axin's DIX domain whose polymerization allows it to form dynamic protein assemblies (‘degradasomes’). Axin is inactivated upon Wnt signalling, by heteropolymerization with the DIX domain of Dishevelled, which rec...

  13. p53 Nuclear Accumulation and Bcl-2 Expression in Contiguous Adenomatous Components of Colorectal Adenocarcinomas Predict Aggressive Tumor Behavior

    OpenAIRE

    Shanmugam, Chandrakumar; Katkoori, Venkat R.; Jhala, Nirag C.; Grizzle, William E.; Gene P Siegal; Manne, Upender

    2008-01-01

    For subsets of colorectal adenocarcinoma (CRC) patients, nuclear accumulation of p53 (p53nac) and Bcl-2 expression are prognostic indicators. To understand their role in the progression of CRC we evaluated 90 CRCs and their contiguous adenomatous components (CAdCs) for immunohistochemical expression of these markers. In general, p53nac and Bcl-2 expression was significantly increased when comparing normal colonic epithelia to CAdCs and CRCs. Thirteen (14%) CAdCs that demonstrated p53nac conti...

  14. Adenomatous polyposis coli mutants dominantly activate Hsf1-dependent cell stress pathways through inhibition of microtubule dynamics

    OpenAIRE

    Davies, Alexander E.; Kortright, Kaitlyn; Kaplan, Kenneth B.

    2015-01-01

    Cancer cells up-regulate cell stress pathways, including the protein chaperone Hsp90. Increases in Hsp90 are believed “buffer” mutant protein activities necessary for cancer phenotypes. Activation of the cell stress pathway also alters the transcriptional landscape of cells in ways that are critical for cancer progression. However, it is unclear when and how the cell stress pathway is de-regulated during cancer progression. Here we report that mutations in adenomatous polyposis coli (APC) fou...

  15. Cronkhite-Canada Syndrome: an unusual finding of gastro-intestinal adenomatous polyps in a syndrome characterized by hamartomatous polyps

    OpenAIRE

    Flannery, Christopher M.; Lunn, John A.

    2014-01-01

    Cronkhite-Canada syndrome is a rare, hamartomatous polyposis syndrome of unknown etiology. Hamartomatous gastro-intestinal polyps, alopecia, onychodystrophy, cutaneous hyperpigmentation, abdominal pain, diarrhea, and complications of weight loss are typical of the syndrome. In this report, we describe a pathological finding of colonic adenomatous polyposis as opposed to hamartomatous polyposis. We also describe our treatment, long-term therapeutic plan, and the need for further research.

  16. Aberrant methylation of the Adenomatous Polyposis Coli (APC) gene promoter is associated with the inflammatory breast cancer phenotype

    OpenAIRE

    Van der Auwera, I; Laere, S.J.; Van den Bosch, S M; Van den Eynden, G. G.; Trinh, B X; van Dam, P A; Colpaert, C G; van Engeland, M; Van Marck, E A; Vermeulen, P B; Dirix, L Y

    2008-01-01

    Aberrant methylation of the adenomatous polyposis coli (APC) gene promoter occurs in about 40% of breast tumours and has been correlated with reduced APC protein levels. To what extent epigenetic alterations of the APC gene may differ according to specific breast cancer phenotypes, remains to be elucidated. Our aim was to explore the role of APC methylation in the inflammatory breast cancer (IBC) phenotype. The status of APC gene promoter hypermethylation was investigated in DNA from normal b...

  17. Ectopic Expression of BraYAB1-702, a Member of YABBY Gene Family in Chinese Cabbage, Causes Leaf Curling, Inhibition of Development of Shoot Apical Meristem and Flowering Stage Delaying in Arabidopsis thaliana

    OpenAIRE

    Lu-Gang Zhang; Jing Zhang; Ze-Ping Yang; Xin-Ling Zhang

    2013-01-01

    YABBY gene family plays an important role in the polarity development of lateral organs. We isolated the BraYAB1-702 gene, a member of the YABBY gene family, from young leaves of Chinese cabbage line 06J45. The full-length gene has a 937 bp CDNA sequence and contains an open reading frame (ORF) of 702 bp. The subcellular localization analysis showed that the expression product of the gene was localized in the nucleus. Ectopic expression of BraYAB1-702 in Arabidopsis thaliana caused leaf curli...

  18. 中国胡琴族乐器的系统类型与原生型特征%System Characteristics and Original Type Features of Chinese Huqin Family Instrument

    Institute of Scientific and Technical Information of China (English)

    王欣

    2015-01-01

    结合不同种类乐器的简要特征,将中国胡琴族乐器划分为板箱型、颈箱型和颈杆型,并介绍其各自相应的持琴、置放、演奏形态。同时,通过对中国胡琴族乐器的细致梳理,总结并提炼出中国胡琴族乐器的两种类型——膜面振动系统和板面振动系统。%Combined with brief characteristics of different types of instruments, Chinese huqin family instruments were divided into three types. This article describes their respective shape of holding, placing, and playing the instruments. Meanwhile, through meticulous combing for the Chinese Huqin family instruments, the writer summarizes and extracts two types of Chinese Huqin instrument of family - membrane surface vibration system and plate surface vibration system.

  19. 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

  20. 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 .

  1. Characterization of Adenomatous Polyposis Coli Protein Dynamics and Localization at the Centrosome.

    Science.gov (United States)

    Lui, Christina; Mok, Myth T S; Henderson, Beric R

    2016-01-01

    The adenomatous polyposis coli (APC) tumor suppressor is a multifunctional regulator of Wnt signaling and acts as a mobile scaffold at different cellular sites. APC was recently found to stimulate microtubule (MT) growth at the interphase centrosome; however, little is known about its dynamics and localization at this site. To address this, we analysed APC dynamics in fixed and live cells by fluorescence microscopy. In detergent-extracted cells, we discovered that APC was only weakly retained at the centrosome during interphase suggesting a rapid rate of exchange. This was confirmed in living cells by fluorescence recovery after photobleaching (FRAP), which identified two pools of green fluorescent protein (GFP)-APC: a major rapidly exchanging pool (~86%) and minor retained pool (~14%). The dynamic exchange rate of APC was unaffected by C-terminal truncations implicating a targeting role for the N-terminus. Indeed, we mapped centrosome localization to N-terminal armadillo repeat (ARM) domain amino acids 334-625. Interestingly, the rate of APC movement to the centrosome was stimulated by intact MTs, and APC dynamics slowed when MTs were disrupted by nocodazole treatment or knockdown of γ-tubulin. Thus, the rate of APC recycling at the centrosome is enhanced by MT growth, suggesting a positive feedback to stimulate its role in MT growth. PMID:27144584

  2. Characterization of Adenomatous Polyposis Coli Protein Dynamics and Localization at the Centrosome

    Directory of Open Access Journals (Sweden)

    Christina Lui

    2016-04-01

    Full Text Available The adenomatous polyposis coli (APC tumor suppressor is a multifunctional regulator of Wnt signaling and acts as a mobile scaffold at different cellular sites. APC was recently found to stimulate microtubule (MT growth at the interphase centrosome; however, little is known about its dynamics and localization at this site. To address this, we analysed APC dynamics in fixed and live cells by fluorescence microscopy. In detergent-extracted cells, we discovered that APC was only weakly retained at the centrosome during interphase suggesting a rapid rate of exchange. This was confirmed in living cells by fluorescence recovery after photobleaching (FRAP, which identified two pools of green fluorescent protein (GFP-APC: a major rapidly exchanging pool (~86% and minor retained pool (~14%. The dynamic exchange rate of APC was unaffected by C-terminal truncations implicating a targeting role for the N-terminus. Indeed, we mapped centrosome localization to N-terminal armadillo repeat (ARM domain amino acids 334–625. Interestingly, the rate of APC movement to the centrosome was stimulated by intact MTs, and APC dynamics slowed when MTs were disrupted by nocodazole treatment or knockdown of γ-tubulin. Thus, the rate of APC recycling at the centrosome is enhanced by MT growth, suggesting a positive feedback to stimulate its role in MT growth.

  3. Neighborhood analysis of low magnification structures (glands) in healthy, adenomatous, and carcinomatous colon mucosa.

    Science.gov (United States)

    Kayser, K; Shaver, M; Modlinger, F; Postl, K; Moyers, J J

    1986-05-01

    A new algorithm analyzing neighborhood conditions of adenomatous tissue is is introduced. Using O'Callaghan's definition of neighborhoods, a graph theory approach for measuring histomorphological structures can be created as follows: glands are defined as vertices and the coherence of neighboring glands as edges. The procedure leads to an unoriented, well-defined graph which contains information usually not measurable by conventional morphometric analysis. Measurements on healthy mucosa, tubulo-villous adenoma and highly to moderately differentiated adenocarcinoma of colon revealed statistically significant differences (p less than or equal to 0.05) for the following parameters: number of vertices, number of edges, frequency distribution of n-stars and of n-closed paths. Correct separation and reclassification of 83% of cases could be carried out using discriminant analysis. 11/15 cases (73%) could be classified correctly in a prospective group based upon the learning set. The significance of these findings for automatic pattern recognition in histopathology is discussed. PMID:3737471

  4. 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.

  5. Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation

    International Nuclear Information System (INIS)

    We report here the clinical, genetic, and molecular characterization of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Five of nine matrilineal relatives had aminoglycoside-induced hearing loss. These matrilineal relatives exhibited variable severity and audiometric configuration of hearing impairment, despite sharing some common features: being bilateral and having sensorineural hearing impairment. Sequence analysis of mitochondrial DNA (mtDNA) in the pedigree identified 16 variants and the homoplasmic 12S rRNA C1494T mutation, which was associated with hearing loss in the other large Chinese family. In fact, the occurrence of the C1494T mutation in these genetically unrelated pedigrees affected by hearing impairment strongly indicated that this mutation is involved in the pathogenesis of aminoglycoside-induced and nonsyndromic hearing loss. However, incomplete penetrance of hearing loss indicated that the C1494T mutation itself is not sufficient to produce a clinical phenotype but requires the involvement of modifier factors for the phenotypic expression. Those mtDNA variants, showing no evolutional conservation, may not have a potential modifying role in the pathogenesis of the C1494T mutation. However, nuclear background seems to contribute to the phenotypic variability of matrilineal relatives in this family. Furthermore, aminoglycosides modulate the expressivity and penetrance of deafness associated with the C1494T mutation in this family

  6. E26 Transformation-Specific-1 (ETS1 and WDFY Family Member 4 (WDFY4 Polymorphisms in Chinese Patients with Rheumatoid Arthritis

    Directory of Open Access Journals (Sweden)

    Yiqun Zhang

    2014-02-01

    Full Text Available E26 transformation-specific-1 (ETS1 and WDFY family member 4 (WDFY4 are closely related with systemic lupus erythematosus. We hypothesized that ETS1 and WDFY4 polymorphisms may contribute to rheumatoid arthritis (RA susceptibility. We studied ETS1 rs1128334 G/A and WDFY4 rs7097397 A/G gene polymorphisms in 329 patients with RA and 697 controls in a Chinese population. Genotyping was done using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. When the WDFY4 rs7097397 AA homozygote genotype was used as the reference group, the AG genotype was associated with a significantly increased risk for RA. In the dominant model, when the WDFY4 rs7097397 AA homozygote genotype was used as the reference group, the AG/GG genotypes were associated with a significant increased susceptibility to RA. In stratification analyses, a significantly increased risk for RA associated with the WDFY4 rs7097397 AG genotype was evident among female patients, younger patients, C-reactive protein (CRP negative patients and both anti-cyclic citrullinated peptide antibody (ACPA positive patients and negative patients compared with the WDFY4 rs7097397 AA genotype. These findings suggested that WDFY4 rs7097397 A/G may be associated with the risk of RA, especially among younger, female patients, CRP-negative patients and both ACPA positive and negative patients. However, our results were obtained from a moderate-sized sample, and therefore this is a preliminary conclusion. To confirm these findings, validation by a larger study from a more diverse ethnic population is needed.

  7. 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.

  8. 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

  9. A typical adenomatous hyperplasia of the lung: correlation of radiographic and pathologic findings

    International Nuclear Information System (INIS)

    Objective: To study radiographic features of atypical adenomatous hyperplasia (AAH) of lung and correlate them with their pathologic findings, so as to improve the imaging diagnose. Methods: The imaging features of 8 patients with pathology- proved AAH were reviewed. All patients were women with age ranging from 35 to 74 years. All cases had chest radiography and HRCT. The radiographic findings were studied retrospectively and correlated with those of pat hology. Results: On chest X-ray, the foci in five patients presented as nodule-like area of a bit high attenuation, while the chest radiograph in the other three patients were negative. On HRCT, all 8 patients presented as non-solid nodules. All lesions were round or oval shaped with well-defined margin (n=4) or poor-defined margin (n=3). The greatest dimension of the lesions ranged from 5.0 mm to 20.0 mm. Their CT value ranged from -362.7 HU to -485.6 HU, the mean CT value was (-423.0 ± 47.0) HU. Air bronchograms and/or bubbles were seen in 5 lesions. Coarse spiculation and pleural tag was not seen in any lesion. Before operation, all the nodules did not change in size over a follow-up period from one month to six months. Pathologic findings showed atypical epithelial cell proliferation along thickened alveolar septa without alveolar collapse. Conclusion: AAH should be considered in cases with the following features: (1) nodules ate found in lung cancer screening or incidentally detected; (2) the diameter of the nodule is usually less than 10 mm; (3) the lesion presented as non-solid nodule on HRCT, air bronchogram and/or bubble sign can be seen; (4) no coarse spiculation and plural tag was seen. (authors)

  10. Characteristics of Traditional Chinese Family Education and Its Inspiration to Contemporary Education%中国传统家训的特点及其对当代教育的启示

    Institute of Scientific and Technical Information of China (English)

    钱琼

    2012-01-01

    中国的传统家庭教育是中华文化与文明的重要组成部分。传统的家训基本可以分为帝王家训、名人家训和女性家训三种。尽管在不同的历史时期各类家训的内容有一些区别和不同的侧重,但是总的目的都是为了引导子女能够学会做人做事,并强调首先要具备“德”和“序”。%Traditional Chinese family education is the important part of culture and civilization. The traditional family motto can be divided into three kinds of imperial family motto, celebrity family motto and women family motto. Though in different historical periods, the contents and emphasis have some differences, the overall purpose is to teach children to learn how to behave well. And the stress is that we must first have "moral" and "order".

  11. 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.

  12. The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss

    International Nuclear Information System (INIS)

    We report here the clinical, genetic and molecular characterization of one three-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON) and hearing loss. Four of 14 matrilineal relatives exhibited the moderate central vision loss at the average age of 12.5 years. Of these, one subject exhibited both LHON and mild hearing impairment. Sequence analysis of the complete mitochondrial genomes in the pedigree showed the presence of homoplasmic LHON-associated ND6 T14484C mutation, deafness-associated 12S rRNA A1555 mutation and 47 other variants belonging to Eastern Asian haplogroup H2. None of other mitochondrial variants was evolutionarily conserved and functional significance. Therefore, the coexistence of the A1555G mutation and T14484C mutations in this Chinese family indicate that the A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutation. However, the incomplete penetrance of vision and hearing loss suggests the involvement of nuclear modifier genes and environmental factors in the phenotypic expression of these mtDNA mutations

  13. The two SAMP repeats and their phosphorylation state in Drosophila Adenomatous polyposis coli-2 play mechanistically distinct roles in negatively regulating Wnt signaling

    OpenAIRE

    Kunttas-Tatli, Ezgi; Von Kleeck, Ryan A.; Greaves, Bradford D.; Vinson, David; Roberts, David M.; McCartney, Brooke M.

    2015-01-01

    The colon cancer tumor suppressor Adenomatous polyposis coli (APC) negatively regulates Wnt signaling destruction complex by binding to β-catenin and facilitating its phosphorylation and degradation. The two SAMP repeats and their phosphorylation state in Drosophila APC2 play distinct roles in negatively regulating Wnt signaling.

  14. A Person-Centered Approach to Studying the Linkages among Parent-Child Differences in Cultural Orientation, Supportive Parenting, and Adolescent Depressive Symptoms in Chinese American Families

    Science.gov (United States)

    Weaver, Scott R.; Kim, Su Yeong

    2008-01-01

    This longitudinal study examined whether supportive parenting mediates relations between parent-child differences in cultural orientation (generational dissonance) and depressive symptoms with a sample of 451 first and second generation Chinese American parents and adolescents (12-15 years old at time 1). Using a person-centered approach,…

  15. 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。

  16. 中文版家庭功能评定量表的信度效度初步研究%Preliminary Study on reliability and validity of the Chinese Version of the Family Assessment Device

    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.

  17. 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. PMID:22515459

  18. A Person-centered Approach to Studying the Linkages among Parent–Child Differences in Cultural Orientation, Supportive Parenting, and Adolescent Depressive Symptoms in Chinese American Families

    OpenAIRE

    Weaver, Scott R.; Kim, Su Yeong

    2008-01-01

    This longitudinal study examined whether supportive parenting mediates relations between parent– child differences in cultural orientation (generational dissonance) and depressive symptoms with a sample of 451 first and second generation Chinese American parents and adolescents (12–15 years old at time 1). Using a person-centered approach, meaningful typologies of cultural orientation were derived for fathers, mothers, and adolescents. Overall, results provided support, though qualified, for ...

  19. Genome-Wide Identification and Analysis of the VQ Motif-Containing Protein Family in Chinese Cabbage (Brassica rapa L. ssp. Pekinensis).

    Science.gov (United States)

    Zhang, Gaoyuan; Wang, Fengde; Li, Jingjuan; Ding, Qian; Zhang, Yihui; Li, Huayin; Zhang, Jiannong; Gao, Jianwei

    2015-01-01

    Previous studies have showed that the VQ motif-containing proteins in Arabidopsis thaliana and Oryza sativa play an important role in plant growth, development, and stress responses. However, little is known about the functions of the VQ genes in Brassica rapa (Chinese cabbage). In this study, we performed genome-wide identification, characterization, and expression analysis of the VQ genes in Chinese cabbage, especially under adverse environment. We identified 57 VQ genes and classified them into seven subgroups (I-VII), which were dispersedly distributed on chromosomes 1 to 10. The expansion of these genes mainly contributed to segmental and tandem duplication. Fifty-four VQ genes contained no introns and 50 VQ proteins were less than 300 amino acids in length. Quantitative real-time PCR showed that the VQ genes were differentially expressed in various tissues and during different abiotic stresses and plant hormone treatments. This study provides a comprehensive overview of Chinese cabbage VQ genes and will benefit the molecular breeding for resistance to stresses and disease, as well as further studies on the biological functions of the VQ proteins. PMID:26633387

  20. Genome-Wide Identification and Analysis of the VQ Motif-Containing Protein Family in Chinese Cabbage (Brassica rapa L. ssp. Pekinensis

    Directory of Open Access Journals (Sweden)

    Gaoyuan Zhang

    2015-12-01

    Full Text Available Previous studies have showed that the VQ motif–containing proteins in Arabidopsis thaliana and Oryza sativa play an important role in plant growth, development, and stress responses. However, little is known about the functions of the VQ genes in Brassica rapa (Chinese cabbage. In this study, we performed genome-wide identification, characterization, and expression analysis of the VQ genes in Chinese cabbage, especially under adverse environment. We identified 57 VQ genes and classified them into seven subgroups (I–VII, which were dispersedly distributed on chromosomes 1 to 10. The expansion of these genes mainly contributed to segmental and tandem duplication. Fifty-four VQ genes contained no introns and 50 VQ proteins were less than 300 amino acids in length. Quantitative real-time PCR showed that the VQ genes were differentially expressed in various tissues and during different abiotic stresses and plant hormone treatments. This study provides a comprehensive overview of Chinese cabbage VQ genes and will benefit the molecular breeding for resistance to stresses and disease, as well as further studies on the biological functions of the VQ proteins.

  1. 同居共财:传统中国的家庭、财产与法律%Cohabitation Common Wealth:Traditional Chinese Family, Property and Law

    Institute of Scientific and Technical Information of China (English)

    张剑源

    2015-01-01

    In the traditional Chinese society, Common Wealth is a consistent uphold of the life and organization, which has two charac-teristics:one is“cohabitation”, the other is“common wealth”. The traditional Chinese family law system is based on the ethical standard, which is basically adapted to the two principles of“cohabitation”and“common wealth”, it reflects the adaptation of law and society in the sense of traditional Chinese.%在传统中国社会较长的发展时期,家庭成员一直秉持着“同居共财”的生活和组织方式。其有两个特征:一是“同居”,家庭成员并不都是一个个完全独立的个体,其只是家庭中一个个伦理意义上的成员,人们无不生活在“关系”和“亲疏”之中;二是“共财”,财产属于家庭成员共有,由父亲代为管理,财产主要依靠“分家”“继承”等方式在家庭内部流动。传统中国的家庭法律制度以伦理本位为基础,基本上适应了此两项原则,体现了传统中国意义上法律与社会之间的适配性。

  2. Bulimia nervosa in the Chinese.

    Science.gov (United States)

    Schmidt, U

    1993-12-01

    Typical DSM-III-R bulimia nervosa with self-induced vomiting was found in 2 women of Hong Kong Chinese origin and a Chinese man from Malaysia. All 3 cases had a family history of obesity. In 2 of the cases a period of weight gain and in the third case frank obesity preceded the onset of the eating disorder. Cultural transition seemed to play an important part in the onset and maintenance of the eating disorder. PMID:8293034

  3. Generational transtormation of Chinese families:A survey of the Republic period%中国家庭的代际更替方式——以民国时期为例

    Institute of Scientific and Technical Information of China (English)

    郑全红

    2009-01-01

    Family division is the way of reproduction of Chinese families and the starting point of building new families.Reasons of family division in the Republic Of China include bad terms among sisters-in-law,among brothers.between father and sons,between mother-in-1aw and daughters-in-law,or working outside.There are three pattems of family division:one-time thorough division,serial division,and special types of division.The circumstances of family division include:inheritance while parents are alive or after their death;equal inheritance among brothers hosted by their uncle(toother's brother), inheritance rights attributed to the eldest son or grandson,and special principles of property distribution.The rite of family division is quite solemn;documents of family division definitely need to be made with specific regulations.There are three ways of supporting for the eldly,among which leaving some land to parents is popularly adopted in rural China during the Republic period.%分家是中国家庭的代际更替方式,是新家庭成立的起点.民国时期分家产生的原因在于妯娌不和、兄弟不和、亲子不和、婆媳不和及外出工作等.分家的模式可分为一次性彻底分家、系列分家及特殊类型的分家等三种类型.分家的原则有:生分或者死后继承均可、平均继承、舅舅主持、长子长孙继承权及一些财产分配的特殊原则等.分家仪式十分隆重,分家文书必须要有,且有规定的条款.分家过程中对老人的赡养通常有三种方式,其中保留养老地是民国农村普遍采用的赡养老人的方式.

  4. Employee Motivation Research Based on the Psychological Contract in Chinese Small and Medium -sized Family Firm%基于心理契约的中国中小家族企业员工激励研究

    Institute of Scientific and Technical Information of China (English)

    郝冬梅; 冯书娟

    2012-01-01

    This article, through analyzing concretely the achievements and existing problems of employee motivation and the impact factors in Chinese small and medium - sized family firms, by using psychological contract theory, conies up with an . employee motivation mechanism model based on the psychological contract, and states the specific incentives in detail.%通过对中小家族企业员工激励的现状和存在的问题及对问题产生的影响因素的具体分析,借助心理契约理论,提出基于心理契约的员工激励模型,并详细陈述激励措施.

  5. Online Chinese Patent Family Retrieval Based on Open Patent Service%基于开放专利服务在线检索中国同族专利

    Institute of Scientific and Technical Information of China (English)

    胡书明

    2012-01-01

    Based on the free online EPO' s Open Patent Service(OPS) ,the paper uses three key service include Family Service, Le- gal Service and Published - data Service to retrieve patent information from EPO. The paper first retrieved all INPADOC extended patent family members of one patent number and categorized them based on Faimily ID, then picked out all Chinese patents and retrieved the bibliography data and legal status history of the Chinese patents,lastly displayed all information in one webpage. Addtionally,the information in the webpage could be cross - validated with some link - out official patent websites, and some value - added service would be found in the websites.%建立流程应用免费在线开放专利服务(OPS)中的Family专利族服务、Legal法律状态服务、Published—data著录项服务,获得指定专利文献国际专利文献中心(INPADOC)扩展专利族所有成员并按简单专利族编号归类,筛选出所有中国专利成员,最终在同一页面显示中国专利文献著录项信息及法律状态变化历史,并保持专利数据信息与欧洲专利局(EPO)官方网站同步更新。另外,使用链接构造功能将专利信息链接至权威官方专利网站,从而实现专利信息的交叉验证以及相应的增值服务。

  6. Actually existing Chinese matriarchy

    OpenAIRE

    Stafford, Charles

    2008-01-01

    The essays in this volume present contemporary anthropological perspectives on Chinese kinship, its historical complexity and its modern metamorphoses. The collection draws particular attention to the reverberations of larger socio-cultural and politico-economic processes in the formation of sociality, intimate relations, family histories, reproductive strategies and gender relations – and vice-versa. Drawing on a wealth of ethnographic material from the late imperial period and from cont...

  7. [The analysis of mitochondrial DNA haplogroups and variants for Leber's hereditary optic neuropathy in Chinese families carrying the m.14484T >C mutation].

    Science.gov (United States)

    Meng, Xiangjuan; Zhu, Jinping; Gao, Min; Zhang, Sai; Zhao, Fuxin; Zhang, Juanjuan; Liu, Xiaoling; Wei, Qiping; Tong, Yi; Zhang, Minglian; Qu, Jia; Guan, Minxin

    2014-04-01

    The m.14484T>C mutation in mitochondrial ND6 gene (MT-ND6) is a primary mutation underlying the development of Leber's hereditary optic neuropathy (LHON) , but by itself not enough to cause visual loss. To explore the role of mitochondrial haplogroups on the expression of LHON for the people carrying the m.14484T>C mutation, we performed systematic and extended mutational screening of MT-ND6 gene in a cohort of 1177 Han Chinese patients with LHON. A total of 67 affected subjects carried the homoplasmic m.14484T>C mutation, accounting for 5.7% of this LHON population. The penetrances of optic neuropathy among 51 pedigrees carrying the m.14484T>C mutation ranged from 5.6% to 100.0%, with the average of 21.5%. The sequence analysis of entire mitochondrial genomes of 51 probands exhibited distinct sets of polymorphisms belonging to 18 Eastern Asian haplogroups. The frequencies of haplogroup A and haplogroup F were sig-nificantly less in the LHON mtDNA samples than those in 106 Chinese controls. On the other hand, the haplogroup M10a accounted for 9.8% of the patient's mtDNA samples but was absent in 106 Chinese controls. Strikingly, the average pene-trance (46.13%) of optic neuropathy for the pedigrees carrying mitochondrial haplogroup M10a was higher than those car-rying other mtDNA haplogroups. These observations indicated that mitochondrial haplogroup M10a may increase the risk of visual loss. PMID:24846978

  8. Mutation Analysis of ATP2C1 Gene in Two Chinese Families with Hailey-Hailey Disease%家族性慢性良性天疱疮2家系的基因突变分析

    Institute of Scientific and Technical Information of China (English)

    朱亚刚; 张学军; 杨森

    2012-01-01

    Objective To identify pathogenic mutations of the A TP2C1 gene in two Chinese pedigrees with HHD. Methods The blood samples of two Chinese HHD families and 100 unrelated controls were collected. Ge-nomic DNA was extracted from peripheral blood. All the coding exons and their flanking sequences of ATP1CX were amplified by polymerase chain reaction and products analyzed by direct sequencing. Results We identified two novel heterozygous mutations including one nonsense (p.Q633X) and one frameshift (c.2164 insACAT) in ATP1CX. These two mutations were not found in the healthy members of families and in 100 unrelated control individuals. Conclusion Our data suggests that these two novel mutations in the A TP2CI gene could cause HHD in Chinese Han population and add new variants to the repertoire of A TP1CX mutations in HHD.%目的 检测两个中国家族性慢性良性天疱疮(Hailey-Hailey disease,HHD)家系ATP2C1基因的致病性突变.方法 收集两个中国HHD家系的临床资料和外周血标本,用基因组抽提试剂盒提取外周血DNA,用PCR反应扩增ATP2C1基因的所有外显子编码区及其侧翼序列,然后对扩增产物进行直接测序,并与100例正常对照组进行比较.结果 发现两个新的杂合性突变,包括一个无义突变(p.Q633X)和一个移码突变(c.2164insACAT),这两个突变在家系正常成员和100例正常对照中没有发现.结论 该结果表明这两个ATP2C1基因新突变可能导致中国汉族人HHD的发病,增加了ATP2C1基因突变数据库新的突变位点.

  9. Association of protein Z and factor VII gene polymorphisms with risk of cerebral hemorrhage: a case–control and a family-based association study in a Chinese Han pulation

    Indian Academy of Sciences (India)

    YI ZENG; LE ZHANG; ZHIPING HU; QIDONG YANG; MINGMING MA; BAOQIONG LIU; JIAN XIA; HONGWEI XU; YUNHA I LIU; XIAOPING DU

    2016-06-01

    Protein Z (PZ) and factor (F) VII are two important factors in the clotting pathway which have similar structure, linkedfunction and nearby gene sites. The aims of this study were to investigate whether the common variants of PZ and FVII genesare associated with the risk of cerebral hemorrhage (CH) and to explore the combined effects of PZ and FVII polymorphismsfor CH risk. We performed genotyping analysis for two single-nucleotide polymorphisms (SNPs) of FVII (rs510317 andrs6046) and three SNPs of PZ (rs2273971, rs3024718 and rs3024731) both in a population-based case–control study andin a family-based association study. Case–control analysis found no evidence of significant association. But family-basedassociation study revealed that the G allele of PZ rs2273971, and three haplotypes carrying the ‘G’ allele of PZ rs2273971:haplotype GA, CG and CGA of PZ and FVII genes, all had a significant effect on CH susceptibility (Z =1.882,P =0.049;Z =1.922,P =0.044; Z =1.826,P =0.047; Z =1.977,P =0.048, respectively). While, the A allele of PZ rs2273971, andfour haplotypes carrying or crossing the ‘A’ allele of PZ rs2273971: haplotypes CA, ACAA, ACAT and ACAAT of PZ andFVII genes, may confer protection against CH (Z =−1.882,P =0.049; Z =−2.000,P =0.045; Z =−2.319,P =0.020;Z =−2.002,P =0.045; Z =−2.015,P =0.043, respectively). This is a first family-based association study providing geneticevidences that PZ and FVII genes, especially PZ rs2273971 are involved in the development of CH in Han-Chinese families.

  10. Chinese immigrants’ parental experiences in Norway

    OpenAIRE

    Zhu, Hong

    2015-01-01

    European Master in Social Work with Families and Children Existing empirical studies of parents in China found that this population presents features of authoritarian parenting style: greater parental demands and control together with lower parental responsiveness. However, when the investigation conducted on Chinese immigrants, parental practice is characterized as more authoritative style, combining high levels of controlling and responsiveness. Paradoxical findings between Chinese paren...

  11. Mutation analysis of ATP2C1 gene in Chinese families with Hailey-Hailey disease%家族性良性天疱疮患者ATP2C1基因突变研究

    Institute of Scientific and Technical Information of China (English)

    罗素菊; 李晓莉; 刘原君; 倪海洋; 李燕; 刘全忠

    2012-01-01

    Objective To detect the mutations in ATP2C1 gene in 3 Chinese Hailey-Hailey-disease (HHD) families and 1 sporadic HHD patient.Methods Three Chinese HHD families and 1 sporadic HHD patient were recruited into this study with informed consent.Blood samples were taken from the patients with HHD,unaffected individuals in the HHD families and 100 unrelated normal human controls.Genomic DNA was extracted from these blood samples.All the exons and exon-intron boundaries of the ATP2C1 gene were amplified by PCR followed by direct sequencing via dye-termination chemistry.Results Three novel missense mutations in ATP2C1 gene were identified,including a 2048 G→A mutation in exon 20 causing the substitution of arginine by lysine at position 619 in the patients from HHD family 1,853A→C mutation in exon 8 causing the substitution of threonine by proline at position 221 in the patients from family 2,and 2323T→C mutation in exon 23 causing the substitution of tyrosine by histidine at position 711.None of these mutations were found in patients from the HHD family 3,unaffected individuals from the HHD family 1 and 2,or the unrelated normal human controls.Conclusion Three novel missense mutations are identified in the ATP2C 1 gene of patients with HHD.%目的 探讨3个家族性良性天疱疮家系和1例散发患者的ATP2C1基因突变.方法 采取家系中患病成员外周血,应用外周血细胞DNA抽提、PCR扩增和DNA直接测序等方法检测ATP2C1基因突变情况,用反向测序验证突变,用100例无血缘关系个体作正常人对照.结果 在2个家族性良性天疱疮家系和1例散发患者中发现3个未曾报道的错义突变.家系1第20外显子2048位碱基G→A,导致错义突变R619K;家系2第8外显子853位碱基A→C,导致错义突变T221P;散发患者第23外显子2323位碱基T→C,导致错义突变Y711H.家系中非患病成员和100例无血缘关系正常人均未发现这些改变.在1个家族性良性天疱疮家系未

  12. Apical Membrane Localization of the Adenomatous Polyposis Coli Tumor Suppressor Protein and Subcellular Distribution of the β-Catenin Destruction Complex in Polarized Epithelial Cells

    OpenAIRE

    Reinacher-Schick, Anke; Gumbiner, Barry M.

    2001-01-01

    The adenomatous polyposis coli (APC) protein is implicated in the majority of hereditary and sporadic colon cancers. APC is known to function as a tumor suppressor through downregulation of β-catenin as part of a high molecular weight complex known as the β-catenin destruction complex. The molecular composition of the intact complex and its site of action in the cell are still not well understood. Reports on the subcellular localization of APC in various cell systems have differed significant...

  13. Chinese Cooking.

    Science.gov (United States)

    Kane, Tony

    This unit, intended for secondary level students, is a general introduction to Chinese cooking. It is meant to inform students about the origins of Chinese cooking styles in their various regional manifestations, and it can be used to discuss how and why different cultures develop different styles of cooking. The first part of the unit, adapted…

  14. 脊髓小脑性共济失调一家系的遗传学研究%Genetics of a Chinese family with spinocerebellar ataxia

    Institute of Scientific and Technical Information of China (English)

    刘丹; 郭洪; 王凯; 白云

    2011-01-01

    Objective To do genetic diagnosis of an autosomal dominant spinocerebellar ataxia family and discuss its clinical characteristics. Methods Familial investigation and pedigree analysis were per formed. The duplicate number of tri-nucleotides in pathogenic CAG was detected by polymerase chain reaction (PCR) and direct DNA sequencing in the family members. Results Autosomal dominant heredity was found in this family. Clinical symptoms such as gait, dysphagia and slurred speech occurred in three spinocerebellar ataxia patients of the family at the age of over 30 years. Genetic diagnosis of spinocerebellar ataxia showed that the CAG duplicate number of SCA2 and SCA3 was normal in all the family members of spinocerebellar ataxia patients, and abnormal allelic gene SCA1 was detected in 3 spinocerebellar ataxia patients. The CAG was amplified 43, 48, and 51 times, respectively, and amplified 53 and 50 times for another 2 members of the family who were diagnosed as presymptomatic SCA1. Conclusion Type 1 spinocerebellar ataxia can be diagnosed in the family members of spinocerebellar ataxia patients according to their autosomal dominant heredity caused by dynamic mutations. Genetic diagnosis can be established in 2 presymptomatic SCA1 patients of the family.%目的 对一个常染色体显性遗传的脊髓小脑共济失调家系(spinocerebellar ataxias,SCA)进行基因诊断并探讨其临床特点.方法 完成家系调查和系谱分析,通过聚合酶链式反应和直接测序的方法 对收集到的家系成员进行脊髓小脑性共济失调致病基因CAG三核苷酸重复数目的 检测.结果 该家系呈常染色体显性遗传模式,家系中3名患者均于30岁后逐渐表现为行走不稳、饮水呛咳、言语不清等共济失调的临床特征.对所有家系成员进行基因诊断,结果 发现,SCA2和SCA3致病基因的CAG重复数目均在正常范围内;而家系中3名患者SCA1致病基因出现异常等位基因,CAG扩增次数分别为43、48

  15. Correlates of Living Alone among Single Elderly Chinese Immigrants in Canada

    Science.gov (United States)

    Lai, Daniel W. L.; Leonenko, Wendy L.

    2007-01-01

    According to traditional Chinese culture, families will care for their elderly. Therefore, it appears to be uncommon for elderly Chinese to live alone. This study examines the correlates for single elderly Chinese immigrants in Canada to live alone. Using a probability sample of single elderly Chinese immigrants (N = 660) in seven urban centers,…

  16. Adenomatous polyposis coli (APC) regulates multiple signaling pathways by enhancing glycogen synthase kinase-3 (GSK-3) activity.

    Science.gov (United States)

    Valvezan, Alexander J; Zhang, Fang; Diehl, J Alan; Klein, Peter S

    2012-02-01

    Glycogen synthase kinase-3 (GSK-3) is essential for many signaling pathways and cellular processes. As Adenomatous Polyposis Coli (APC) functions in many of the same processes, we investigated a role for APC in the regulation of GSK-3-dependent signaling. We find that APC directly enhances GSK-3 activity. Furthermore, knockdown of APC mimics inhibition of GSK-3 by reducing phosphorylation of glycogen synthase and by activating mTOR, revealing novel roles for APC in the regulation of these enzymes. Wnt signaling inhibits GSK-3 through an unknown mechanism, and this results in both stabilization of β-catenin and activation of mTOR. We therefore hypothesized that Wnts may regulate GSK-3 by disrupting the interaction between APC and the Axin-GSK-3 complex. We find that Wnts rapidly induce APC dissociation from Axin, correlating with β-catenin stabilization. Furthermore, Axin interaction with the Wnt co-receptor LRP6 causes APC dissociation from Axin. We propose that APC regulates multiple signaling pathways by enhancing GSK-3 activity, and that Wnts induce APC dissociation from Axin to reduce GSK-3 activity and activate downstream signaling. APC regulation of GSK-3 also provides a novel mechanism for Wnt regulation of multiple downstream effectors, including β-catenin and mTOR. PMID:22184111

  17. The Adenomatous polyposis coli tumour suppressor is essential for Axin complex assembly and function and opposes Axin's interaction with Dishevelled.

    Science.gov (United States)

    Mendoza-Topaz, Carolina; Mieszczanek, Juliusz; Bienz, Mariann

    2011-11-01

    Most cases of colorectal cancer are linked to mutational inactivation of the Adenomatous polyposis coli (APC) tumour suppressor. APC downregulates Wnt signalling by enabling Axin to promote the degradation of the Wnt signalling effector β-catenin (Armadillo in flies). This depends on Axin's DIX domain whose polymerization allows it to form dynamic protein assemblies ('degradasomes'). Axin is inactivated upon Wnt signalling, by heteropolymerization with the DIX domain of Dishevelled, which recruits it into membrane-associated 'signalosomes'. How APC promotes Axin's function is unclear, especially as it has been reported that APC's function can be bypassed by overexpression of Axin. Examining apc null mutant Drosophila tissues, we discovered that APC is required for Axin degradasome assembly, itself essential for Armadillo downregulation. Degradasome assembly is also attenuated in APC mutant cancer cells. Notably, Axin becomes prone to Dishevelled-dependent plasma membrane recruitment in the absence of APC, indicating a crucial role of APC in opposing the interaction of Axin with Dishevelled. Indeed, co-expression experiments reveal that APC displaces Dishevelled from Axin assemblies, promoting degradasome over signalosome formation in the absence of Wnts. APC thus empowers Axin to function in two ways-by enabling its DIX-dependent self-assembly, and by opposing its DIX-dependent copolymerization with Dishevelled and consequent inactivation. PMID:22645652

  18. High-resolution CT findings of pulmonary atypical adenomatous hyperplasia of 5 mm or less in diameter

    International Nuclear Information System (INIS)

    The objective of this study was to clarify the high-resolution CT (HRCT) findings of pulmonary atypical adenomatous hyperplasia (AAH) of 5 mm or less in diameter. We evaluated the HRCT findings of 43 histopathologically confirmed AAH of 5 mm or less in diameter in 7 patients who underwent lobectomy for pulmonary adenocarcinoma. For comparison, we also examined the HRCT findings of 13 bronchioloalveolar carcinomas (BAC) of the same size from these patients. We identified 36 of 43 AAH and all 13 BAC on HRCT performed with multidetector-row CT. Thirty-five AAH and 11 BAC showed ground-glass opacity without any high-attenuation component. Margins of 20 AAH were well defined, and 16 were ill defined. In BAC, 11 lesions demonstrated well-defined margins, with only 2 showing ill-defined margins. Most AAH lesions of 5 mm or less in diameter are identified as ground-glass opacity on HRCT. Detection of minute ground-glass opacity is important in locating AAH on HRCT. (author)

  19. 7个中国Leber遗传性视神经病变家系线粒体DNA突变分析%The analysis of mitochondrial DNA mutation in seven Chinese families with Leber's hereditary optic neuropathy

    Institute of Scientific and Technical Information of China (English)

    米慧; 林蓓; 朱金萍; 孟祥娟; 刘晓玲; 赵福新; 张娟娟; 周翔天; 孙艳红

    2013-01-01

    目的 观察7个中国Leber遗传性视神经病变(LHON)家系的分子遗传学特征.方法 对7个家系先证者及其母系成员和134例正常健康者进行临床眼科检查.除7个先证者外,还确诊2例LHON患者.用24对有部分重叠的引物对受检者线粒体DNA全序列进行扩增,双向测序,结果与修正的剑桥参照序列进行比对,分析突变位点.计算突变位点的外显率,分析家系的单体型.结果 7个家系先证者及其母系成员均未携带ND4 G11778A、ND1 G3460A和ND6 T14484C这3个常见的原发突变位点,但均携有与LHON相关的ND1 T3394C突变位点.134位正常健康者中仅发现4例携带此突变位点.7个家系的ND1 T3394C外显率分别为12.50%、22.22%、16.67%、6.25%、9.09%、11.11%、28.57%.根据本亚线粒体单体型系统进化树分析结果,7个家系分别属于东亚线粒体单体型M9、M9、M、D4、M、M9、M9.结论 中国LHON家系中存在ND1 T3394C突变位点,该突变位点的外显率为6.25%~28.57%,表现度不一.%Objective To observe the molecular genetic characteristics of seven Chinese families with Leber's hereditary optic neuropathy (LHON).Methods Ophthalmologic examinations were performed on seven probands,maternal members from seven Chinese families and 134 healthy controls.There were two LHON patients in seven Chinese families except probands.The entire mitochondrial genome was amplified using 24 pairs of oligonucleotide primers with overlapping fragments.The mutational site was analyzed through comparison of the results and Cambridge reference sequence.The penetrance of mutation site was calculated and the haplotype was analyzed.Results Molecular analysis of mitochondrial DNA (mtDNA) in these pedigrees revealed the absence of three common LHON associated with ND4 G11778A,ND1 G3460A and ND6 T14484C mutations.The ND1 T3394C mutation in probands and other matrilineal relatives was present in four out of 134 Chinese healthy controls

  20. Chinese astronomy

    OpenAIRE

    Macfarlane, Alan; Cullen, Christopher

    2004-01-01

    Standing in the observatory in Beijing, Christopher Cullen discusses the nature and sophistication of Chinese astronomy in the medieval period. The political as well as the intellectual interest in astronomy is outlined.

  1. Chinese Confucianism

    OpenAIRE

    Macfarlane, Alan; Cullen, Christopher

    2004-01-01

    Confucianism has deeply influenced Chinese civilization. Christopher Cullen describes its effect on education, social structure and knowledge over the past centuries, against the backdrop of a Confucian building in Beijing.

  2. Ancient Chinese Bronzes: Teacher's Packet.

    Science.gov (United States)

    Smithsonian Institution, Washington, DC. Arthur M. Sackler Gallery.

    The focus of this teacher's packet is the bronze vessels made for the kings and great families of the early Chinese dynasties between 1700 B.C. and 200 A.D. The materials in the guide are intended for use by teachers and students visiting the exhibition, "The Arts of China," at the Arthur M. Sackler Gallery of the Smithsonian Institution in…

  3. Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family.

    Science.gov (United States)

    Xu, H; Li, Z; Wang, T; Wang, S; Liu, J; Wang, D W

    2015-12-01

    Kallmann syndrome (KS) is a genetically heterogeneous disease characterised by hypogonadotrophic hypogonadism in association with anosmia or hyposmia. This condition affects 1 in 10 000 men and 1 in 50,000 women. Defects in seventeen genes including KAL1 gene contribute to the molecular basis of KS. We report the clinical characteristics, molecular causes and treatment outcome of two Chinese brothers with KS and X-linked ichthyosis. The phenotypes of the patients were characterised by bilateral cryptorchidism, unilateral renal agenesis in one patient but normal kidney development in another. The patients had low serum testosterone, follicle-stimulating hormone and luteinising hormone levels and a blunt response to the gonadotrophin-releasing hormone stimulation test. After human chorionic gonadotrophin treatment, the serum testosterone levels were normalized, and the pubic hair, penis length and testicular volumes were greatly improved in both of the patients. The two affected siblings had the same novel deletion at Xp22.3 including exons 9-14 of KAL1 gene and entire STS gene. Our study broadens the mutation spectrum in the KAL1 gene associated with KS and facilitates the genetic diagnosis and counselling for KS. PMID:25597551

  4. Research progression of LDLR mutations in Chinese Familial hypercholesterolemia%中国人群家族性高胆固醇血症LDLR基因突变研究进展

    Institute of Scientific and Technical Information of China (English)

    代艳芳; 孙立元; 张新波; 王绿娅

    2011-01-01

    家族性高胆固醇血症(Familial hypercholesterolemia,FH)主要是由于低密度脂蛋白受体(Low-densitylipoprotein receptor,LDLR)基因突变导致的单基因显性遗传性疾病.FH患者LDLR基因突变导致细胞膜表面LDLR减少或缺如,机体代谢胆固醇能力降低,血浆胆固醇增高并沉积在不同的组织和器官,常伴有全身黄色瘤和早发冠心病,因此FH也是最常见的严重代谢性疾病.世界范围内对LDLR基因突变的报道总共有1741种,经整理我国目前报道的140例FH指示病例,包括108种LDLR基因突变类型.文章对已报道的中国FH患者LDLR基因突变特点进行系统分析和综述,旨在为FH诊断治疗提供参考依据.%Familial hypercholesterolemia (FPD), one monogenic autosomal dominant disease, mainly results from genetic defects in the low-density lipoprotein receptor (/D/R) gene, which leads to the reduction or absence of cell surface LDLR.disorder of cholesterol metabolism and cholesterol deposition in different tissues and organs.FH is a common metabolic disease clinically characterized by the presence of xanthomas and premature coronary heart disease.To date, about 1 741 variants have been identified in gene LDLR, among which 108 variants were identified in Chinese FH patients.To better understand the features of LDLR gene mutations and help to FH diagnosis and therapy, this review provides a comprehensive overview of LDLR gene mutations in Chinese FH patients.

  5. 眼咽型肌营养不良一家系临床与分子遗传学研究%Clinical and molecular genetic studies of a Chinese family with oculopharyngeal muscular dystrophy

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    陈永洪; 龙跃生; 蔡莉莉; 王海龙; 马彪; 傅君毅; 夏勇; 李新毅; 解龙昌

    2015-01-01

    Objective To investigate the clinical and molecular genetic changes in a Chinese family with oculopha⁃ryngeal muscular dystrophy(OPMD). Methods We collected the clinical data of the familial members and blood sam⁃ples from all available 16 familial members, including the proband. The samples were analyzed using modified poly⁃merase chain reaction amplification and direct sequence analysis. Results Male OPMD patients initially presented with ptosis, followed by pronunciation difficulty, dysphagia and limb weakness whereas female OPMD patients initially pre⁃sented with swallowing difficulty. Genetic test revealed the abnormal expansions of the GCG trinucleotide repeat from GCG6 to GCG10 in PABPN1 gene in 10 familial members. Conclusions The genetic test and prenatal diagnosis is the key for the prevention treatment of oculopharyngeal muscular dystrophy. The ptosis of eyelid may be the initial symptom for the male patients of oculopharyngeal muscular dystrophy with (GCG)10 mutation.%目的:探讨一考虑诊断眼咽型肌营养不良(oculopharyngeal muscular dystrophy,0PMD)家系的临床及分子生物学特点。方法收集该家系成员的临床资料,并经包括先证者在内的16位家族成员同意,收集其血样进行聚合酶链反应(PCR)基因验证分析。结果该家系成员男性患者起病以眼睑下垂为首发症状,而后开始逐渐出现以发音及吞咽困难为表现的咽部肌群和肢体乏力为表现的四肢近端肌群受累,而女性患者则往往以吞咽困难为首发表现。参与基因检测的家族成员中共发现10位存在多聚腺苷酸结合蛋白核l(PABPN1)基因的(GCG)6重复异常拷贝为(GCG)10,从而导致了丙氨酸的扩增。结论基因诊断及产前诊断是确诊及预防眼咽型肌营养不良的关键,眼睑下垂可能为携带(GCG)10突变男性OPMD患者的首发症状。

  6. 先天性Q-T间期延长综合征3型一家系基因突变分析%Gene mutation analysis of a Chinese family of congenital long Q-T syndrome type three

    Institute of Scientific and Technical Information of China (English)

    史瑞明; 马爱群; 张艳敏; 杨春; 黄晨; 周熙惠; 刘小红

    2009-01-01

    Objective The congenital long QT syndrome(LQTs)is a hereditary disorder in which most affected family members have delayed ventrieular repolarization manifested on the electrocardiogram (ECG)as QT interval prolongation.The disorder is associated with an increased propensity to arrhythmogenie syncope,polymorphous ventricular tachycardia(torsade de pointes),and sudden arrhythmic death.LQTs is due to mutations involving principally the myocyte ion-channels,and this monogenetic disorder has an autosomal inheritance pattern.This study investigated the gene mutation of a Chinese family of LQTs with multiple phenotypes including dilated cardiomyopathy(DCM)and cardiac conduction defects,thus to understand the molecular pathogenesis of the diseases.Methods A three-generation Chinese LQTs family with multiple phenotypes was investigated Blood sample was collected from the 8 family members and 100 unassociated normal individuals.Polymerase chain reaction(PCR)-DNA direct sequencing was performed to screen all exons and their flanking introns of SCN5A gene for mutation analysis.Polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP)was used to exclude polymorphism.Results PCR amplification and subsequent direct sequencing of SCN5A from proband revealed a heterozygous deletion of nine base pairs(CAGAAGCCC)in exon 26,corresponding to the three amino acid residues Gln1507-Lys1508-Pro1509 (QKP).This mutation is localized in the linker region between DⅢ-DⅣ of SCN5A.The same mutation was found in another patient(her grandmother)and excluded in the remaining living subjects in this family.This mutation was confirmed using SSCP in 100 unassociated healthy individuals.Similar analysis excluded possible mutations that would lead to amino acid changes in KCNQ1,KCNH2 and LAMIN A/C commonly associated with LQTs and DCM with conduction disorders,no new mutations that would lead to amino acid changes was found.Conclusion The result of the present study suggests that

  7. Rezension von: Nancy E. Riley: Gender, Work, and Family in a Chinese Economic Zone. Laboring in Paradise. Wiesbaden: Springer VS 2013.

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    Yvonne Berger

    2015-03-01

    Full Text Available Das Buch eignet sich vor allem für Wissenschaftler/-innen, die sich mit den Lebenswirklichkeiten von Arbeitsmigrantinnen in China aus geschlechtertheoretischer Sicht beschäftigen. Nancy E. Riley interessiert sich ethnographisch für den Zusammenhang von Geschlecht, Arbeit und Familie. Konkret geht die Autorin dabei der Frage nach, inwiefern die in der Dalian Economic Zone (DEZ arbeitenden Frauen Erwerbsarbeit als eine Ressource der sozialen Mobilität und der Verhandlung innerfamilialer Machtpositionen nutzbar machen können. Mit Fokus auf dieser (Sonder-Wirtschaftszone und den familialen Lebenswirklichkeiten der Frauen erschließen sich spannende Einsichten in das wirtschaftlich aufstrebende China und den damit einhergehenden sozialen Wandel von Geschlechterverhältnissen.

  8. The role of WWOX polymorphisms on COPD susceptibility and pulmonary function traits in Chinese: a case-control study and family-based analysis

    Science.gov (United States)

    Xie, Chenli; Chen, Xiaoliang; Qiu, Fuman; Zhang, Lisha; Wu, Di; Chen, Jiansong; Yang, Lei; Lu, Jiachun

    2016-01-01

    Single nucleotide polymorphisms (SNPs) in the WW domain containing oxidoreductase (WWOX) gene were recently identified to be quantitative trait loci for lung function and thus likely to be susceptible biomarkers for COPD. However, the associations between WWOX SNPs and COPD risk are still unclear. Here, by conducting a two-center case-control study including 1511 COPD cases and 1677 controls and a family-based analysis comprising 95 nuclear pedigrees, we tested the associations between five SNPs that are rs10220974C >T, rs3764340C >G, rs12918952G >A, rs383362G >T, rs12828G >A of WWOX and COPD risk as well as the hereditary inclination of these loci among COPD families. We found that the SNP rs383362G >T was significantly associated with an increased risk of COPD in a T allele-number dependent-manner (OR = 1.30, 95%CI = 1.11 - 1.52). The T allele was more prone to over transmit to sick children and sibs than the G allele (Z = 2.900, P = 0.004). Moreover, the forced expiratory volume in one second/forced vital capacity (FEV1/FVC), FEV1/predicted-FEV1 and annual FEV1 also significantly decreased in the rs383362T carriers compared to the rs383362GG carriers. For other SNPs, no significant association was observed for COPD and pulmonary function. Taken together, our data demonstrated that the SNP rs383362G >T of WWOX plays a role in COPD inheritance. PMID:26902998

  9. A Single Nucleotide Variant in HNF-1β is associated with Ma¬turity-Onset Diabetes of the Young in a Large Chinese Family

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    Peng ZHOU

    2016-02-01

    Full Text Available Background: Maturity-onset diabetes of the young (MODY is a heterogeneous entity of monogenic disorders characterized by autosomal dominant inheritance. Eleven genes were related, including HNF4α, GCK, HNF1α, IPF1, and HNF-1β, and various mutations are being reported. Methods: To help the overall understanding of MODY-related pathologic mutations, we studied a large MODY family found in 2012, in Shandong, China, which contained 9 patients over 3 generations.DNA was extracted from the periphery blood samples of (i 9 affected members, (ii 17 unaffected members, and (iii 1000 healthy controls. Three pooled samples were obtained by mixing equal quantity ofDNA of each individual within the each group. Totally 400 microsatellite markers across the whole genome were genotyped by capillary electrophoresis. The known MODY-related gene near the identified marker was sequenced to look for putative risk variants.Results: Allelic frequency of marker D17S798 on chromosome 17q11.2 were significantly different (P<0.001 between the affected vs. unaffected members and the affected vs. healthy controls, but not between the unaffected members vs. healthy controls. MODY5-related gene, hepatocyte nuclear factor-1β (HNF-1β on 17q12 near D17S798 became the candidate gene. A single nucleotide variant (SNV of C77T in the non-coding area of exon 1 of HNF-1β was found to be related to MODY5. Conclusion: This novel SNV of HNF-1β contributes to the diabetes development in the family through regulating gene expression most likely. The findings help presymptomatic diagnosis, and imply that mutations in the non-coding areas, as well as in the exons, play roles in the etiology of MODY. Keywords: Maturity-onset diabetes of the young (MODY, Maturity-onset diabetes of the young type 5 (MODY5, Hepatic nuclear factor 1 beta (HNF1β

  10. Challenges to culturally sensitive care for elderly chinese patients: a first-generation Chinese-American perspective.

    Science.gov (United States)

    Chan, Karen C

    2013-01-01

    Physicians and medical institutions in the United States are placing increasing emphasis on providing culturally sensitive care for patients, such as implementing a Confucian family-based model of medical decision making when caring for elderly Chinese patients. In this article, I articulate various reasons why deferring to the family is not a guarantee of culturally sensitive care, particularly when family members are first-generation Chinese-Americans. Nonetheless, I offer several suggestions to help physicians, medical institutions, and family members to provide more culturally sensitive care for elderly Chinese patients. PMID:24597422

  11. An investigation of concerns of Chinese patients and their families before total knee arthroplasty%膝关节置换术前患者及家属关注问题调查

    Institute of Scientific and Technical Information of China (English)

    李杨; 蔡宏; 张克

    2013-01-01

    Objective To learn about the degree of concerns of Chinese patients and their family about the upcoming total knee arthroplasty ( TKA ), postoperative rehabilitation, expectation and other relevant diagnosis and treatment procedures. Methods 128 patients who were scheduled to undergo TKA and their family members were inquired about preoperative concerns with a 61-question questionnaire. The degree of concerns was assessed by assigning a score on a scale of 1-4 ( 1=not concerned, 2=somewhat concerned, 3=very concerned and 4=extremely concerned ). Collected data were then statistically analyzed. Results The mean score of the degree of concerns of all the patients about all the items was 3.11. The top 5 concerns of Chinese patients were the ability to walk with no difficulties postoperatively ( 3.78 ), surgeons’ experience ( 3.73 ), the risk of failure in the surgery ( 3.68 ), the lifespan of joint prostheses ( 3.63 ) and the ability to take care of oneself postoperatively ( 3.63 ). The mean score of the degree of concerns of their family members was 3.18. The top 5 concerns of family members were surgeons’ experience ( 3.86 ), the ability to walk with no difficulties postoperatively ( 3.82 ), the postoperative pain relief rate ( 3.74 ), the postoperative occurrence of ankylosis ( 3.72 ), pain existing or not after discharge ( 3.72 ). The patients under 65 years old were evidently more concerned about the 6 items than those aged greater than or equal to 65 years old, including the ability to look after children postoperatively, the ability to enjoy recreations postoperatively, the lifespan of joint prostheses, the ability to ride a bike postoperatively, the ability to lift weights postoperatively and the occurrence of fractures around artificial prostheses after TKA. The scores of the degree of concerns of elderly and young patients about the occurrence of anesthetic accident were 3.71 and 3.38 respectively ( P=0.036 ). The scores of the degree of concerns of

  12. Expression of Abelson interactor 1 (Abi1 correlates with inflammation, KRAS mutation and adenomatous change during colonic carcinogenesis.

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    Konrad Steinestel

    Full Text Available BACKGROUND: Abelson interactor 1 (Abi1 is an important regulator of actin dynamics during cytoskeletal reorganization. In this study, our aim was to investigate the expression of Abi1 in colonic mucosa with and without inflammation, colonic polyps, colorectal carcinomas (CRC and metastases as well as in CRC cell lines with respect to BRAF/KRAS mutation status and to find out whether introduction of KRAS mutation or stimulation with TNFalpha enhances Abi1 protein expression in CRC cells. METHODOLOGY/PRINCIPAL FINDINGS: We immunohistochemically analyzed Abi1 protein expression in 126 tissue specimens from 95 patients and in 5 colorectal carcinoma cell lines with different mutation status by western immunoblotting. We found that Abi1 expression correlated positively with KRAS, but not BRAF mutation status in the examined tissue samples. Furthermore, Abi1 is overexpressed in inflammatory mucosa, sessile serrated polyps and adenomas, tubular adenomas, invasive CRC and CRC metastasis when compared to healthy mucosa and BRAF-mutated as well as KRAS wild-type hyperplastic polyps. Abi1 expression in carcinoma was independent of microsatellite stability of the tumor. Abi1 protein expression correlated with KRAS mutation in the analyzed CRC cell lines, and upregulation of Abi1 could be induced by TNFalpha treatment as well as transfection of wild-type CRC cells with mutant KRAS. The overexpression of Abi1 could be abolished by treatment with the PI3K-inhibitor Wortmannin after KRAS transfection. CONCLUSIONS/SIGNIFICANCE: Our results support a role for Abi1 as a downstream target of inflammatory response and adenomatous change as well as oncogenic KRAS mutation via PI3K, but not BRAF activation. Furthermore, they highlight a possible role for Abi1 as a marker for early KRAS mutation in hyperplastic polyps. Since the protein is a key player in actin dynamics, our data encourages further studies concerning the exact role of Abi1 in actin reorganization upon

  13. different Roles for the axin interactions with the SAMP versus the second twenty amino acid repeat of adenomatous polyposis coli.

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    Schneikert, Jean; Ruppert, Jan Gustav; Behrens, Jürgen; Wenzel, Eva Maria

    2014-01-01

    Wnt signalling is prevented by the proteosomal degradation of β-catenin, which occurs in a destruction complex containing adenomatous polyposis coli (APC), APC-like (APCL), Axin and Axin2. Truncating mutations of the APC gene result in the constitutive stabilisation of β-catenin and the initiation of colon cancer, although tumour cells tolerate the expression of wild-type APCL. Using the colocalisation of overexpressed Axin, APC and APCL constructs as a readout of interaction, we found that Axin interacted with the second twenty amino acid repeat (20R2) of APC and APCL. This interaction involved a domain adjacent to the C-terminal DIX domain of Axin. We identified serine residues within the 20R2 of APCL that were involved in Axin colocalisation, the phosphorylation of truncated APCL and the down-regulation of β-catenin. Our results indicated that Axin, but not Axin2, displaced APC, but not APCL, from the cytoskeleton and stimulated its incorporation into bright cytoplasmic dots that others have recognised as β-catenin destruction complexes. The SAMP repeats in APC interact with the N-terminal RGS domain of Axin. Our data showed that a short domain containing the first SAMP repeat in truncated APC was required to stimulate Axin oligomerisation. This was independent of Axin colocalisation with 20R2. Our data also suggested that the RGS domain exerted an internal inhibitory constraint on Axin oligomerisation. Considering our data and those from others, we discuss a working model whereby β-catenin phosphorylation involves Axin and the 20R2 of APC or APCL and further processing of phospho-β-catenin occurs upon the oligomerisation of Axin that is induced by binding the SAMP repeats in APC. PMID:24722208

  14. Adenomatous polyposis coli is required for early events in the normal growth and differentiation of the developing cerebral cortex

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    Price David J

    2009-01-01

    Full Text Available Abstract Background Adenomatous polyposis coli (Apc is a large multifunctional protein known to be important for Wnt/β-catenin signalling, cytoskeletal dynamics, and cell polarity. In the developing cerebral cortex, Apc is expressed in proliferating cells and its expression increases as cells migrate to the cortical plate. We examined the consequences of loss of Apc function for the early development of the cerebral cortex. Results We used Emx1Cre to inactivate Apc specifically in proliferating cerebral cortical cells and their descendents starting from embryonic day 9.5. We observed reduction in the size of the mutant cerebral cortex, disruption to its organisation, and changes in the molecular identity of its cells. Loss of Apc leads to a decrease in the size of the proliferative pool, disrupted interkinetic nuclear migration, and increased apoptosis. β-Catenin, pericentrin, and N-cadherin proteins no longer adopt their normal high concentration at the apical surface of the cerebral cortical ventricular zone, indicating that cell polarity is disrupted. Consistent with enhanced Wnt/β-catenin signalling resulting from loss of Apc we found increased levels of TCF/LEF-dependent transcription and expression of endogenous Wnt/β-catenin target genes (Axin2 (conductin, Lef1, and c-myc in the mutant cerebral cortex. In the Apc mutant cerebral cortex the expression of transcription factors Foxg1, Pax6, Tbr1, and Tbr2 is drastically reduced compared to normal and many cells ectopically express Pax3, Wnt1, and Wt1 (but not Wnt2b, Wnt8b, Ptc, Gli1, Mash1, Olig2, or Islet1. This indicates that loss of Apc function causes cerebral cortical cells to lose their normal identity and redirect to fates normally found in more posterior-dorsal regions of the central nervous system. Conclusion Apc is required for multiple aspects of early cerebral cortical development, including the regulation of cell number, interkinetic nuclear migration, cell polarity, and

  15. Deficiency of Adenomatous Polyposis Coli protein in sporadic colorectal adenomas and its associations with clinical phenotype and histology

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    Martin Bortlík; Ivana Vítková; Martina Pape(z)ová; Milada Kohoutová; Ale(s) Novotn(y); Stanislav Adamec; Petra Chalupná; Milan Luká(s)

    2006-01-01

    AIM: To evaluate the frequency of the loss of the Adenomatous Polyposis Coli (APC) protein and to compare the APC status with the characteristics of colorectal adenomas.METHODS: Immunohistochemical analysis of the APC protein was performed on 118 adenomas and the results were compared with parameters of malignant potential,location of adenomas, macroscopic appearance and age of the patients.RESULTS: A complete loss of the APC protein was found in 28 (24%) adenomas, while 90 (76%) were APC positive. The mean size of adenomas was 13.5 ± 14.2 mm (95% CI 10.5-16.5) in APC-positive, and 13.8 ± 15.5mm (95% CI 7.8-19.8) in APC-negative adenomas (P = 0.364). Statistical analysis revealed no difference between APC-positive and negative adenomas as to the histological type (P = 0.327) and grade of dysplasia (P =0.494). We found that even advanced adenomas did not differ in their APC status from the non-advanced tumors (P = 0.414). Finally, no difference was found when the location (P = 0.157), macroscopic appearance (P =0.571) and age of patients (P = 0.438) were analysed and compared between both APC positive and negative adenomas.CONCLUSION: Most adenomas expressed full-length APC protein, suggesting that protein expression is not a reliable marker for assessment of APC gene mutation.Complete loss of APC protein did not influence morphology, location, or appearance of adenomas, nor was it affected by the patient's age.

  16. Genetic analysis of mitochondfial DNA in two consanguineous Chinese Han Leber's hereditary optic neuropathy families%中国汉族Leber遗传性视神经病变家系的遗传学检测与分析

    Institute of Scientific and Technical Information of China (English)

    陈雪娟; 高翔; 赵晨; 赵堪兴

    2013-01-01

    Objective To investigate the genetic basis for two consanguineous Chinese Han Leber's hereditary optic neuropathy(LHON) families.Methods All participants in two families were examined clinically and the genomic DNA was extracted from peripheral venous blood.PCR and Sanger sequencing were performed to screen mutations in the whole mitochondfial DNA(mtDNA).The sequence results were analyzed and compared with the updated consensus Cambridge sequence to identify new mutations and classify the haplotype.Results Genetic analysis identified the ND4 m.11778G>A primary mutaion in both families.The whole mtDNA sequence analysis results showed 45 variants,which classified the two families separately to haplogroup R11b and haplogroup B4b.Conclusion Primary mutation ND4 m.11778G>A is very likely the pathogenical mutation for the two LHON families.In addition,belong to different haplogroups would like the main reason for the differences in penetrance,the age of onset and the severity between the two families.%目的 探讨2个中国汉族Leber遗传性视神经病变(LHON)家系的遗传学基础.方法 提取所有参与者外周血全基因组DNA,并对2个先证者及其他母系成员进行详细的眼科检查.采用PCR方法扩增ND1 m.3460G>A、ND4 m.11778G>A和ND6 m 14484T>C三个原发突变,Sanger测序明确原发突变后,对2个先证者扩增线粒体DNA(mtDNA)全序列;测序结果与最新剑桥标准mtDNA序列比对,分析2个家系的线粒体单体型.结果 2个家系均携带ND4 m 11778G>A原发突变,但LHON的外显性、发病年龄及病情严重程度存在一定差异.2个家系mtDNA全序列测序结果共存在45个mtDNA变异位点,分别归属于东亚单体组R11b和B4b.结论 除受ND4m.11778G>A纯合原发突变影响外,线粒体单体型也可能调控LHON.

  17. Templates of "Chineseness" and Trajectories of Cambodian Chinese Entrepreneurship in Phnom Penh

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    Michiel Verver

    2012-09-01

    Full Text Available In the 1960s, William Willmott described Cambodia as a plural society in which different ethnic groups occupy different places in the economic structure. The Chinese made up the economic class, active in trade and commerce, and formed a definable ethnic community, both socioculturally and politically. Since Willmott’s seminal studies, Cambodia’s ethnic Chinese have endured the destruction and repression of both private enterprise and Chinese sociocultural life (1970–1990, followed by a revitalization of Chinese business. Through ethnographic case studies, this paper explores the relationship between “Chineseness” and business life in trajectories of Cambodian Chinese entrepreneurship in Phnom Penh. How do entrepreneurs deploy notions of Chinese business? The author argues that Chinese family businesses, trust-based networks, patronage arrangements, and cultural representations have indeed been greatly revitalized over the last few decades, but that they also remain challenged in certain contexts. Moreover, such revitalization has taken a fundamentally different form from Willmott’s description. Practices of Chinese business can no longer be ascribed to an ethnic Chinese “community” in Phnom Penh. Rather, as the latter has become increasingly multiform, Chinese business has developed into a template at the deployment (or neglect of a broader category of Cambodian Chinese entrepreneurs.

  18. Maternally inherited hypertension is associated with mitochondrial DNA point mutation in a large Chinese family%线粒体DNA点突变有关的中国大家族母系遗传性高血压研究

    Institute of Scientific and Technical Information of China (English)

    孙俊芳; 高进辽; 李宗斌; 蓝云峰; 杨洁; 李泱; 刘昱圻

    2013-01-01

    Objective To investigate the clinical and genetic characteristics of a large Chinese family with maternally inherited hypertension. Methods The mitochondrial DNA point mutation was detected by sequence analysis in 1865 patients with essential hypertension. Then the families were followed up, and the clinical data were collected for statistical analysis. Results The morbidity of hypertension in the maternal members was up to 55.6%, while that of the non-maternal members was only 15.6% (P 0.05). Conclusion The morbidity of hypertension is higher in maternal members than in non-maternal members. Genetic analysis shows that it is a family with maternally inherited hypertension, which may be related with mitochondrial DNA point mutation. Our findings suggest that mitochondrial DNA mutation may be associated with maternally inherited hypertension, and play an important role in the incidence of hypertension.%目的 研究具有母系遗传性特点的原发性高血压中国大家系临床与遗传学特点.方法 对入选的1865例原发性高血压患者进行线粒体DNA测序分析,发现线粒体DNA点突变,对其进行家系随访,收集该家系成员临床资料进行分析,分析其遗传学特点.结果 该家系中母系成员高血压患病率高达55.6%,非母系成员高血压患病率15.6%(P0.05);结论该家系母系成员高血压发病率明显高于非母系成员,该家系符母系遗传特点,高血压发病与线粒体DNA突变有关,提示线粒体DNA突变可能与母系遗传性高血压发病有关,在高血压发病中发挥重要作用.

  19. 一个Bethlem肌病家系的临床表型及分子遗传学研究%Clinical and mutation analyses of a Chinese family with Bethlem myopathy

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    杨海坡; 张艳芝; 丁娟; 焦辉; 吕俊兰; 熊晖

    2012-01-01

    目的 分析并确立一个连续3代患病的Bethlem肌病家系的临床表型特点及基因突变情况.方法 收集先证者及其家系成员的临床资料并提取家庭成员外周血基因组DNA,PCR扩增COL6A1、A2和A3基因的外显子,以琼脂糖凝胶电泳鉴定PCR产物,PCR产物纯化后DNA直接测序,确定基因突变的类型,并进一步分析基因型及表型的关系.取患者皮肤进行成纤维细胞培养,通过特异性免疫荧光染色比较对照组与患者成纤维细胞外基质中Ⅵ型胶原蛋白的表达.结果 家系中9例患者临床上符合Bethlem肌病的诊断,其特点为晚婴期出现运动发育落后,肢体无力,走路不稳,蹲下站起困难,远端关节过度松弛,近端关节挛缩,皮肤改变(卷烟纸样瘢痕),智力正常.查血清肌酸激酶轻度升高,肌电图提示肌源性损害.疾病缓慢进展但不影响寿命.7例患者经基因检测均证实存在COL6A1基因第2外显子c.111-129缺失突变,此为国际没有报道过的新突变.与对照组相比,患者成纤维细胞外基质中Ⅵ型胶原蛋白表达明显减少.结论 明确了我国一个Bethlem肌病家系的临床特点,该家系符合常染色体显性遗传的遗传方式,其患者存在COL6A1基因第2外显子c.111-129缺失突变.%Objective To explore the clinical features and gene mutation of a Chinese family with Bethlem myopathy in three generations.Methods The clinical data of proband and his family members was collected.Genomic DNA from the patient and his family members was extracted routinely from peripheral blood leukocytes.Polymerase chain reaction and DNA direct sequencing were employed to analyze COL6A1,A2 and A3 genes to determine the mutation.And the relationship between genotype and phenotype was analyzed.Furthermore,the patient's skin fibroblast was cultured and immunofluorescent staining was performed with anti-collagen Ⅵ antibody.And the expression pattern of type Ⅵ collagen in extracellular matrix

  20. Clinical and Molecular Diagnosis in a Big Chinese Family with Pendred Syndrome%一个Pendred综合征家系的临床及SLC26A4基因检测分析

    Institute of Scientific and Technical Information of China (English)

    陶峥; 柴永川; 李磊; 李晓华; 杨涛; 吴皓

    2012-01-01

    Objective To elucidate the clinical diagnosis and molecular pathogenesis of Pendred syndrome in a big Chinese family. Methods Clinical materials and DNA sample were obtained from the Pendred syndrome family. The exons and the flanking splicing sites of SLC26A4 were screened in the 4 major patients in this family by nested PCR and direct sequencing. Results The clinical characterizations of patients in this family included the prelingual sensorineural hearing loss, dysphonia, goiter, normal thyroid function and enlarged vestibular aqueduct. A total of 4 different types of SLC26A4 mutations were identified in the family. The proband , his father, his mother and his sister were carried with different SLC26A4 biallelic mutations which were p. Q514P and p. H723R,p. N392Y and p. H723R,c. 1548insC and p. Q514P,p. N392Y and c. 1548insC, respectively. Conclusion The proband, his father, his mother and his sister with Pendred syndrome were caused by different biallelic mutations of SLC26A4. In the 4 types of SLC26A4 mutations, p. Q514P is novel, which has not been yet reported in the previous literatures.%目的 探讨Pendred综合征的临床表现及SLC26A4基因检测特点.方法 对一个多人患病的Pendred综合征家系进行详尽的临床表型分析,并对其中4例耳聋患者进行SLC26A4基因全编码序列及侧翼序列的检测.结果 该家系共三代15人,其中6人(40.0%)为耳聋患者,6例均为语前感音神经性聋,2例(Ⅰ-3和Ⅱ-7)表现为言语障碍,5例(Ⅱ-4、Ⅱ-5、Ⅱ-7、Ⅲ-1、Ⅲ-2)伴单纯甲状腺肿大、3例(Ⅱ-5、Ⅲ-1、Ⅲ-2)伴前庭水管扩大.Ⅱ-4、Ⅱ-5、Ⅲ-1和Ⅲ-2这4例耳聋患者中共发现SLC26A4基因四种不同的突变,患病成员中先证者(Ⅲ-1)及其父亲(Ⅱ-4)、母亲(Ⅱ-5)和妹妹(Ⅲ-2)分别具有p.Q514P和p.H723R、p.N392Y和p.H723R、c.1548insC和p.Q514P、p.N392Y和c.1548ins C双等位基因突变.结论 该家系先证者及其父母、妹妹分别由SLC26A4基因不同复合杂

  1. Chinese Dream

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    The general managers of South Korean auto giants Hyundai and Kia have high hopes for the growing Chinese auto market. Both companies went through a painstaking period as the financial crisis first roared across the globe. Jin Shan-fa, General Manager of Hyundai Motor Group

  2. Molecular genetic study of Han nationality dopa-responsive dystonia in three Chinese families%汉族多巴敏感性肌张力障碍三个家系的分子遗传学研究

    Institute of Scientific and Technical Information of China (English)

    张社卿; 郑惠民; 谢惠君; 任大明; 林大宇

    2004-01-01

    背景:多巴敏感性肌张力障碍(dopa-responsive dystonia,DRD)的基本病因为遗传的缺陷,自1990年以来,中国有关本病的临床报道已有40余例,但相关的分子遗传研究报道较少.目的:分析国人DRD患者发病与三磷酸鸟苷环化水解酶1(GCH-1)基因突变的关系.设计:典型调查.地点和对象:来自3个家庭的5例于2000-10/2001-07在解放军第二军医大学长海医院神经内科确诊的DRD患者及其亲属共12个成员.方法:经静脉采血2 mL,常规提取基因组DNA,以PCR扩增GCH-1基因,反应产物用自动DNA测序仪直接测序.主要观察指标:三个家系中是否有基因突变.结果:在A家系,先证者母亲为正常个体,基因测序显示无基因突变,其中3例患病个体DNA测序发现第2个外显子142号碱基由鸟嘌呤转换为腺嘌呤(G→A),导致半胱氨酸被替换为酪氨酸;估计其突变基因来自已故父系一方.在B家庭,先证者第一个外显子71号碱基由胸腺嘧啶转换为胞嘧啶(T→C),导致亮氨酸被替换为脯氨酸;而其父母及弟均为正常个体.C家庭无GCH-1基因突变.结论:GCH-1基因突变只是部分DRD患者的发病原因.%BACKGROUND: The basic cause of Dopa-responsive dystonia(DRD) is the genetic defect. Since 1990, the clinical reports about this disease in China have already been more than 40, however, research about the molecular genetics of this disease is rarely.OBJECTIVE: To analyze the relationship between Chinese DRD onset and gene mutation of guanosine triphosphate cyclohydrolase 1 (GCH-1 ).DESIGN: Typical investigation,SETTING and PARTICIPANTS: Five patients with DRD, 2000 - 10/2001 -07 in Changhai Hospital of the Second Military Hospital of Chinese PLA, and their families, totally 12 members from 3 families, were involved in this research.METHODS: Venous blood(2 mL) was drawn and genomic DNA was extracted by standard technique. GCH-1 genes were amplified by PCR, and reaction products were directly sequenced

  3. Chinese culture and fertility decline.

    Science.gov (United States)

    Wu, C; Jia, S

    1992-01-01

    Coale has suggested that cultural factors exert a significant influence on fertility reduction; countries in the "Chinese cultural circle" would be the first to show fertility decline. In China, the view was that traditional Chinese culture contributed to increased population. This paper examines the nature of the relationship between Chinese culture and fertility. Attention was directed to a comparison of fertility rates of developing countries with strong Chinese cultural influence and of fertility within different regions of China. Discussion was followed by an explanation of the theoretical impact of Chinese culture on fertility and direct and indirect beliefs and practices that might either enhance or hinder fertility decline. Emigration to neighboring countries occurred after the Qing dynasty. Fertility after the 1950s declined markedly in Japan, Singapore, Hong Kong, South Korea, Taiwan, and mainland China: all countries within the Chinese cultural circle. Other countries within the Chinese circle which have higher fertility, yet lower fertility than other non-Chinese cultural countries, are Malaysia, Thailand, and Indonesia. Within China, regions with similar fertility patterns are identified as coastal regions, central plains, and mountainous and plateau regions. The Han ethnic group has lower fertility than that of ethnic minorities; regions with large Han populations have lower fertility. Overseas Chinese in East Asian countries also tend to have lower fertility than their host populations. Chinese culture consisted of the assimilation of other cultures over 5000 years. Fertility decline was dependent on the population's desire to limit reproduction, favorable social mechanisms, and availability of contraception: all factors related to economic development. Chinese culture affects fertility reduction by affecting reproductive views and social mechanisms directly, and indirectly through economics. Confucianism emphasizes collectivism, self

  4. Molecular etiology of non-syndromic hearing impairment in a Chinese family%非综合征性耳聋一家系分子病因学分析

    Institute of Scientific and Technical Information of China (English)

    孙勍; 单希征; 马丽涛; 康东洋; 张昕; 刘新; 王国建; 袁慧军; 韩东一

    2009-01-01

    Objective To investigate the molecular etiology of non-syndromic hearing impairment in two patients in a maternal inherited deafness Chinese family. Methods Peripheral blood specimens were collected and DNA templates extracted. The complete mitochondrial genomes and GJB2 geoe were sequenced in an ABI 3100 Avant sequencer. Results The proband(Ⅲ-5) and her elder sister(Ⅲ-1) were found to carry the mtDNA 12SrRNA C1494T mutation. The GJB2 gene showed no mutations. The proband had the history of using aminoglycosides before hearing loss, and exhibited severe sensorineural hearing impairment; the proband's sister had no history of using aminoglycosides, and showed moderate sensorineural hearing impairment. Conclusion The molecular etiology of each individual patient in a family yaries with individual genetic background.%目的 从分子病因学角度分析一具有母系遗传特性的非综合征性耳聋家系耳聋原因.方法 对该家系成员进行线粒体基因全序列及缝隙连接蛋白26编码基因(GJB2)全序列分析.结果 接受检测的该家系先证者(Ⅲ-5)及另一母系成员(Ⅲ-1)均携带线粒体DNA 12SrRNA C1494T突变;先证者聋前有氨基糖苷类抗生素应用史,表现为双侧重度感音神经性耳聋,携带线粒体DNA12SrRNA C1494T突变的另一母系成员(Ⅲ-1)聋前无氨基糖苷类抗生素应用史,表现为双侧中度感音神经性耳聋.GJB2基因检测未发现致病突变.结论 线粒体DNA 12SrRNA C1494T突变是氨基糖苷类抗生素致聋的原因之一,该突变致聋程度的不一致性可能与个体遗传背景不同有关.

  5. Clinical,molecular genetic research of Chinese families with Duchenne muscular dystrophy%D uchenne 型肌营养不良家系的临床及分子遗传学研究

    Institute of Scientific and Technical Information of China (English)

    殷竞争; 丁雪冰; 王雪晶; 李梦; 滕军放

    2014-01-01

    Objective To investigate the clinical ,molecular genetic features of Duchenne muscular dystrophy.Methods Clinical data and results of genetic testing of two Chinese families were collected and retrospectively analyzed.This paper re‐viewed previous literatures to overview characteristics in the clinical manifestation ,molecular genetics of Duchenne muscular dystrophy.Results DMD is a myopathic disorder beginning at younger ,progressive ,and characterized by muscle weakness and wasting.Pseudohypertrophy of the calves is common.The serum creatine kinase (CK ) levels are exceptionally elevated.The eletromyogram and muscle biopsy show typical myogenic changes.Further gene test of the proband in the first family detected a homozygous deletion of exons 3~21 in DMD gene.In addition ,a repetitive mutation of exons 8 and 9 was identified in the proband of the second family.The probands’ mothers shared heterozygote of the mutations in two families ,consistent with X‐linked recessive inheritance.Conclusion Recognizing the clinical features early can be very useful to improve the diagnostic level of DMD.In addition ,genetic testing is an efficient and effective method to confirm the diagnosis of DMD.%目的:探讨Duchenne型肌营养不良(DMD)家系的临床及分子遗传学特征。方法收集并分析我院收治的2个DMD家系临床资料和基因检测结果,并结合既往相关文献,回顾该病在临床表现、分子遗传学等方面的特点。结果DMD儿童期隐匿起病,进行性加重,以肌无力、肌萎缩为特点,可伴肌肉假性肥大,血清肌酶水平异常增高,肌电图呈肌源性损害,肌肉活检呈肌病特征。本文报道的2个家系经基因检测家系1先证者为DMD基因的第3~21号外显子缺失,家系2先证者则为第8、9外显子重复突变,2个家系中的先证者基因均为纯合突变,且其母亲均为致病基因的携带者,符合X染色体隐性遗传的规律。结论早期

  6. Clinical study and linkage analysis for a Chinese Marfan syndrome family%马凡综合征一家系的临床研究及致病基因连锁分析

    Institute of Scientific and Technical Information of China (English)

    布娟; 张莹; 刘敬; 庞红蕾; 林淑芳; 王乐今

    2012-01-01

    Objective To study the clinical phenotype in a Chinese family with Marfan syndrome ( MFS) and determine the candidate gene using linkage analysis. Methods A detailed clinical ophthalmic and complete physical examinations were performed for all patients in the MFS family. The microsatellite markers which near known MFS candidate genes (FBN1, TGFBR1, TGFBR2) were used as genetic markers after determining the clinical phenotype and the mode of inheritance. Multiple amplitude of microsatellite sequence was performed using PCR. Two-point LOD scores were calculated using the Linkage program. Results The affected members in the pedigree had classical phenotype of MFS,they were inherited as an autosomal dominant trait. All patients in this family had various bilateral lens dislocation, high myopia and skeletal features. Only 2 patients had cardiovascular malformations. The disease phenotype co-segregated with the markers D3S1609 and D3S2432 which were near from TGFBR2 gene, the maximum LOD score was 3.22. Conclusion This family has autosomal dominant trait,the candidate gene locate in D3S1609 and D3S2432 near from TGFBR2 gene, the known TGFBR2 gene mutation may be the molecular basis for MFS.%目的 研究一个中国人马凡综合征( Marian sydrome,MFS)家系的临床特点,并通过基因连锁分析的方法对该家系的致病基因进行定位研究.方法 收集一个MFS家系,对家系所有成员进行全面详细的眼科及全身临床检查.确定其临床表型及遗传方式后,在位于MFS的已知基因FBN1、TGFBR1、TGFBR2附近选取微卫星标记物进行连锁分析.经ABI3130型遗传分析仪、Genscan 2.1收集数据,Genotyper 2.1进行基因分型,Linkage软件计算两点LOD值.结果 该家系的遗传方式为常染色体显性遗传,家系中所有患者均具有典型的晶状体脱位、高度近视及MFS的特征性骨骼改变.仅有2例患者表现为心血管系统的异常.与该家系连锁的染色体微卫星标记物为D3S1609

  7. THAI LITERATURES REFLECTING CHINESE IDENTITY IN THAI SOCIETY

    Directory of Open Access Journals (Sweden)

    Suchawadee Kesmanee

    2013-01-01

    Full Text Available Literatures present the picture of people’s lives in the society in details. There have been numerous studies on Chinese-Thai literatures but none of them has an in-depth study on the Chinese identity. This study has been conducted due to personal interest to analyze the authors’ effort to present the Chinese identity through the characters, contents and social contexts. The data were collected from Thai novels and documentaries dated between 1957 and 2007 of which main characters, content and context were related to the Chinese residing in Thailand. Data collected had been inspected, classified, analyzed and composed. It was found that the Thai literatures could possibly represent Chinese identity in Thai society in the areas of the relationship of the family members from being a male-dominated family to a female-accepted one, the conservation of Chinese language to represent the unity of the Chinese community, the importance of the Chinese opera and its struggle to survive in recent times and the existence of Chinese culture and tradition, which are acculturated and assimilated to the Thai culture. From the study of Chinese identity in Thai literature in four aspects: (1 family relationships, system of relatives and surnames; (2 Chinese Language; (3 Performing Arts and (4 Culture and tradition, it was found that no matter how strict the first generations are to the traditions, they cannot resist the cultural assimilation in the next generations, who are descendants of Chinese overseas in Thailand. Since these new generations were born and grew up in Thai culture, which is different from the one of their ancestors, their versions of Chinese traditions were affected by the Thai society, economy and political situations which led to the changes of the old Chinese tradition and even result in the loss of some tradition.

  8. Defining Tiger Parenting in Chinese Americans

    Science.gov (United States)

    Kim, Su Yeong

    2016-01-01

    “Tiger” parenting, as described by Amy Chua [2011], has instigated scholarly discourse on this phenomenon and its possible effects on families. Our eight-year longitudinal study, published in the Asian American Journal of Psychology [Kim, Wang, Orozco-Lapray, Shen, & Murtuza, 2013b], demonstrates that tiger parenting is not a common parenting profile in a sample of 444 Chinese American families. Tiger parenting also does not relate to superior academic performance in children. In fact, the best developmental outcomes were found among children of supportive parents. We examine the complexities around defining tiger parenting by reviewing classical literature on parenting styles and scholarship on Asian American parenting, along with Amy Chua’s own description of her parenting method, to develop, define, and categorize variability in parenting in a sample of Chinese American families. We also provide evidence that supportive parenting is important for the optimal development of Chinese American adolescents.

  9. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  10. CHINESE JOURNAL OF CHEMISTRY

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    @@Chinese Journal of Chemistry is an international journal published in English by the Chinese Chemical Society with its editorial office hosted by Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences.

  11. Chinese Culture and Leadership.

    Science.gov (United States)

    Wong, Kam-Cheung

    2001-01-01

    Describes essential characteristics of Chinese philosophical tradition; Discusses Western perspectives on value leadership in education, particularly moral leadership. Discuses moral leadership from a Chinese philosophical perspective, especially Confucianism. Draws implications for using Chinese cultural and philosophical traditions to develop…

  12. The Chinese Banking System

    OpenAIRE

    Grant Turner; Nicholas Tan; Dena Sadeghian

    2012-01-01

    The Chinese banking system is critical to the functioning of the Chinese economy, being the main conduit through which savings are allocated to investment opportunities. Banking activity in China has grown rapidly over the past decade in association with the expansion of the Chinese economy, and the Chinese banking system now includes some of the world’s largest banks. Chinese banks have become more commercially orientated over this period, although the Chinese Government retains considerable...

  13. Contamination of Chinese Cabbage Soil with Plasmodiophora brassicae

    OpenAIRE

    Jae-Woo Soh; Kyung-Sook Han; Seong-Chan Lee; Jung-Sup Lee

    2013-01-01

    This research was performed to establish basic technology for Chinese cabbage clubroot chemical control by investigating the soil contamination of Plasmodiophora brassicae in major producing regions of fall Chinese cabbage. PCR primers were developed to detect P. brassicae, a causal agent of Chinese cabbage club-root that generally occurs in Cruciferae family. A primer set, PbbtgF761 and PbbtgR961, specifically amplified a 245 bp fragment from P. brassicae only. At places well kno...

  14. Bilingual Chinese, Malay and Tamil Children's Language Choices in a Multi-lingual Society.

    Science.gov (United States)

    Saravanan, Vanithamani

    1999-01-01

    Examined language choice for three bilingual families in the context of Singapore's bilingual policy for preschool children. Found that Chinese families prefer English for all activities; Malay families prefer the Malayan language for worship and interaction with family; and Tamil families choose the Tamil language for worship but prefer English…

  15. Extensive HLA class Ⅱ studies in Chinese narcoleptic patients.

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Objective: Narcolepsy is a debilitating, lifelong sleep disorder. Its familial occurrence suggests that genetic factors may be of importance in the etiology. Narcolepsy is a very rare disease among Chinese, thus it was of interest to study the association of narcolepsy with the HLA system in Chinese narcoleptic patients.

  16. Family Planning in China

    Institute of Scientific and Technical Information of China (English)

    朱耀华

    1994-01-01

    China is a developing country with vast territory, numerous population and relatively poor economic foundation. The basic features of China's population are of great quantity and considerable annual increase of population as well as its uneven distribution in different regions. For improvement of living standard of the people,Chinese Government began to advocate family planning throughout this country in the beginning of the 1970s while a strenuous effort was made to develop economy.

  17. Family Planning Services

    Institute of Scientific and Technical Information of China (English)

    米国庆

    1994-01-01

    According to the China national programme of economic and social development, by 2000 the standard of living of Chinese people will have been fairly welloff. In order to accomplish the goal, the government has comprised the population development in the national social economic development programme. Family planning (FP) work will contribute to the general goal of social economy and development. Reform and open policy and establishment of socialist market economy sys

  18. Chinese Calendar and Chinese Telegraphic Code.

    Science.gov (United States)

    Defense Language Inst., Monterey, CA.

    This manual contains: (1) Chinese calendars for the hundred years from 1881 to 1980; and (2) the Chinese telegraphic code. Each page in Part One presents the calendar for each year in both Chinese and English. There are 97 charts in Part Two representing the telegraphic code. (AMH)

  19. Transactional Associations between Supportive Family Climate and Young Children's Heritage Language Proficiency in Immigrant Families

    Science.gov (United States)

    Park, Heejung; Tsai, Kim M.; Liu, Lisa L.; Lau, Anna S.

    2012-01-01

    Heritage language (HL) proficiency confers developmental benefits; however, the onset of HL loss is observed among many young children from immigrant families. In this longitudinal study, transactional associations between children's HL proficiency and supportive family climate were examined in Chinese immigrant families with pre-school-aged…

  20. HectD1 E3 ligase modifies adenomatous polyposis coli (APC) with polyubiquitin to promote the APC-axin interaction.

    Science.gov (United States)

    Tran, Hoanh; Bustos, Daisy; Yeh, Ronald; Rubinfeld, Bonnee; Lam, Cynthia; Shriver, Stephanie; Zilberleyb, Inna; Lee, Michelle W; Phu, Lilian; Sarkar, Anjali A; Zohn, Irene E; Wertz, Ingrid E; Kirkpatrick, Donald S; Polakis, Paul

    2013-02-01

    The adenomatous polyposis coli (APC) protein functions as a negative regulator of the Wnt signaling pathway. In this capacity, APC forms a "destruction complex" with Axin, CK1α, and GSK3β to foster phosphorylation of the Wnt effector β-catenin earmarking it for Lys-48-linked polyubiquitylation and proteasomal degradation. APC is conjugated with Lys-63-linked ubiquitin chains when it is bound to Axin, but it is unclear whether this modification promotes the APC-Axin interaction or confers upon APC an alternative function in the destruction complex. Here we identify HectD1 as a candidate E3 ubiquitin ligase that modifies APC with Lys-63 polyubiquitin. Knockdown of HectD1 diminished APC ubiquitylation, disrupted the APC-Axin interaction, and augmented Wnt3a-induced β-catenin stabilization and signaling. These results indicate that HectD1 promotes the APC-Axin interaction to negatively regulate Wnt signaling. PMID:23277359

  1. A rare case of asymptomatic radioiodine-avid renal and brain metastases 20 years after hemi-thyroidectomy for adenomatous goiter

    Science.gov (United States)

    Santhosh, Sampath; Bhattacharya, Anish; Verma, Roshan Kumar; Lal, Anupam; Mittal, Bhagwant Rai

    2016-01-01

    A 65-year-old patient, with a history of left hemi-thyroidectomy for adenomatous goiter 20 years previously, was found to have pulmonary lesions on chest X-ray, a brain lesion on computerized tomography (CT), and elevated serum thyroglobulin (Tg). While completion thyroidectomy revealed that no pathological evidence of thyroid malignancy, radioiodine-avid pulmonary, brain, and renal and bone lesions were identified on diagnostic as well as posttherapy whole body planar scintigraphy and single photon emission computed tomography-CT. Subsequent ultrasonography-guided biopsy of a renal nodule showed thyroid follicular cells. This case suggests that metastatic differentiated thyroid carcinoma should be suspected in asymptomatic patients with incidentally detected lesions, raised serum Tg, and history of thyroid lesions. PMID:26917894

  2. Do Social Networks Improve Chinese Adults' Subjective Well-being?

    OpenAIRE

    Lei, Xiaoyan; Shen, Yan; Smith, James P; Zhou, Guangsu

    2015-01-01

    This paper studies relationships between social networks, health and subjective well-being (SWB) using nationally representative data of the Chinese Population – the Chinese Family Panel Studies (CFPS). Our data contain SWB indicators in two widely used variants – happiness and life-satisfaction. Social network variables used include kinship relationships measured by marital status, family size, and having a genealogy; ties with friends/relatives/neighbors measured by holiday visitation, freq...

  3. Do Social Networks Improve Chinese Adults' Subjective Well-being?

    OpenAIRE

    Lei, Xiaoyan; Shen, Yan; Smith, James P; Zhou, Guangsu

    2015-01-01

    This paper studies relationships between social networks, health and subjective well-being (SWB) using nationally representative data of the Chinese Population – the Chinese Family Panel Studies (CFPS). Our data contain SWB indicators in two widely used variants – happiness and life-satisfaction. Social network variables used include kinship relationships measured by marital status, family size, and having a genealogy; ties with friends/relatives/neighbors measured by holiday visitation, freq...

  4. Simultaneous fingerprint and high-wavenumber fiber-optic Raman spectroscopy enhances real-time in vivo diagnosis of adenomatous polyps during colonoscopy.

    Science.gov (United States)

    Bergholt, Mads Sylvest; Lin, Kan; Wang, Jianfeng; Zheng, Wei; Xu, Hongzhi; Huang, Qingwen; Ren, Jian-Lin; Ho, Khek Yu; Teh, Ming; Srivastava, Supriya; Wong, Benjamin; Yeoh, Khay Guan; Huang, Zhiwei

    2016-04-01

    Colorectal cancer can be prevented if detected early (e.g., precancerous polyps-adenoma). Endoscopic differential diagnosis of hyperplastic polyps (that have little or no risk of malignant transformation) and adenomas (that have prominent malignant latency) remains an unambiguous clinical challenge. Raman spectroscopy is an optical vibrational technique capable of probing biomolecular changes of tissue associated with neoplastic transformation. This work aims to apply a fiber-optic simultaneous fingerprint (FP) and high wavenumber (HW) Raman spectroscopy technique for real-time in vivo assessment of adenomatous polyps during clinical colonoscopy. We have developed a fiber-optic Raman endoscopic technique capable of simultaneously acquiring both the FP (i.e., 800-1800 cm(-1) ) and HW (i.e., 2800-3600 cm(-1) ) Raman spectra from colorectal tissue subsurface (<200 µm) for real-time assessment of colorectal carcinogenesis. In vivo FP/HW Raman spectra were acquired from 50 patients with 17 colorectal polyps during clinical colonoscopy. Prominent Raman spectral differences (p < 0.001) were found between hyperplastic (n = 118 spectra), adenoma (n = 184 spectra) that could be attributed to changes in inter- and intra-cellular proteins, lipids, DNA and water structures and conformations. Simultaneous FP/HW Raman endoscopy provides a diagnostic sensitivity of 90.9% and specificity of 83.3% for differentiating adenoma from hyperplastic polyps, which is superior to either the FP or HW Raman technique alone. This study shows that simultaneous FP/HW Raman spectroscopy technique has the potential to be a clinically powerful tool for improving early diagnosis of adenomatous polyps in vivo during colonoscopic examination. PMID:25850576

  5. Implications of Chinese Traditional Moral Education of Thanksgiving on the Contemporary College Students’ Family Ethics Education Mode%中国传统感恩道德教育对当代大学生家庭伦理教育模式的启示

    Institute of Scientific and Technical Information of China (English)

    王新宏

    2014-01-01

    Moral education must focus on the role of family education. Chinese traditional culture contains a wealth of moral philosophy of thanksgiving family ethics. This will be instructive in guiding the contemporary college students to solve the problems. Contemporary College family ethics and moral education should rely on traditional thanksgiving, strengthening the role of family education, forming a warm, effective family thanksgiving ethics education mode.%道德教育必须重视家庭教育的作用,中国传统文化中蕴含的丰富感恩道德理念对解决当代大学生家庭伦理教育存在的问题具有指导性作用。当代大学生家庭伦理教育应以传统感恩道德为依托,强化家庭教育的作用,构设温情、有效的家庭感恩道伦理教育模式。

  6. Family firm research——A review

    Institute of Scientific and Technical Information of China (English)

    Qiang; Cheng

    2014-01-01

    This article reviews family firm studies in the finance and accounting literature,primarily those conducted using data from the United States and China. Family owners have unique features such as concentrated ownership, long investment horizon, and reputation concerns. Given the distinguishing features of family ownership and control, family firms face unique agency conflicts. We discuss the agency problems in family firms and review the findings of recent family firm studies. We call for more research to understand the unique family effects and encourage more research on Chinese family firms.Part I of the article discusses the fundaments of family firms: the prevalence of and the agency conflicts within family firms. Part II summarizes the findings of recent U.S. family firm studies. It reviews the evidence on the family firm premium(how, which, and when family firms are associated with a valuation premium), the manifestation of the agency conflict between majority and minority shareholders in family firms, earnings quality and corporate disclosure, and the determinants of family ownership and control. Part III discusses the prevalence and characteristics of Chinese family firms and reviews the findings of related studies. The article concludes with some suggestions for future research.

  7. Management of Chinese restaurant

    OpenAIRE

    Cui , Longbo

    2009-01-01

    With Chinese economy developing rapidly, the Chinese restaurant is under the spotlight, but the management of Chinese restaurant is weak at the moment, especially on the service management, which is an important part of service management in the Chinese restaurant. On the other hand, the managers of Chinese restaurant should pay more attention on the service management for instance brand, service innovation. Service management is core and essential concept for every service company recently, ...

  8. Defining Tiger Parenting in Chinese Americans

    OpenAIRE

    Kim, Su Yeong

    2013-01-01

    “Tiger” parenting, as described by Amy Chua [2011], has instigated scholarly discourse on this phenomenon and its possible effects on families. Our eight-year longitudinal study, published in the Asian American Journal of Psychology [Kim, Wang, Orozco-Lapray, Shen, & Murtuza, 2013b], demonstrates that tiger parenting is not a common parenting profile in a sample of 444 Chinese American families. Tiger parenting also does not relate to superior academic performance in children. In fact, the be...

  9. Informed consent practices of Chinese nurse researchers.

    Science.gov (United States)

    Olsen, Douglas P; Honghong Wang; Pang, Samantha

    2010-03-01

    Nursing research in China is at an early stage of development and little is known about the practices of Chinese nurse researchers. This interview study carried out at a university in central China explores the informed consent practices of Chinese nurse researchers and the cultural considerations of using a western technique. Nine semistructured interviews were conducted in English with assistance and simultaneous translation from a Chinese nurse with research experience. The interviews were analyzed by one western and two Chinese researchers and major themes were identified. All participants endorsed informed consent as ethically required. Differences were noted between some of the informed consent practices typically recommended in the USA and those identified in this study, such as: recruitment using local and government officials, recruiting directly from medical records without special permission, family consultation in consent and consent control, and not revealing randomization to intervention groups receiving different treatments. PMID:20185442

  10. The Chinese Mental Resilience Scale and its psychometric properties.

    Science.gov (United States)

    Sun, Xin-Yang; Kong, Ling-Ming; Zhang, Qi-Jun; Tao, Feng-Yan; Ma, Ai-Guo; Liu, Yun; Gao, Yu-Fang; Tu, De-Hua; Bai, Xiang-Hui; Su, Wei-Ji; Wang, Li-Jie; Lu, Fang; Song, Wen-Dang; Zhang, Xin-Zhong; Meng, Xin-Zhen; Wang, Yi-Niu; Xie, Hong-Bo; Zhou, Xiao-Dong; Zhang, Li-Yi

    2016-07-01

    This study aimed to develop a Chinese Mental Resilience Scale. A total of 2500 healthy participants, in two representative samples of the Chinese population, were administered the scale. Exploratory factor analysis, confirmatory factor analysis, and correlation analysis were used to obtain the relevant coefficients and verify the reliability and validity of the scale. Five factors were extracted: willpower, family support, optimism and self-confidence, problem solving, and interpersonal interaction, plus a lying subscale, which together accounted for 54 percent of the total variance. The Chinese Mental Resilience Scale demonstrated good psychometric properties. It can be used to evaluate the mental resilience level of general Chinese population. PMID:27357924

  11. Celebrating the Family: Ethnicity, Consumer Culture, and Family Rituals.

    Science.gov (United States)

    Pleck, Elizabeth H.

    This book examines family traditions of over two centuries in the United States and finds a complicated process of change in the way Americans have celebrated holidays such as Christmas, Easter, Thanksgiving, Passover, and Chinese New Year as well as the life cycle rituals of birth, birthdays, coming of age, marriage, and death. The book notes…

  12. Family education,School of Chinese Language,Cultural Identity%家庭教育·中文学校·文化认同——二战前美国华人中华传统文化教育活动研究

    Institute of Scientific and Technical Information of China (English)

    李永; 顾晓莉

    2012-01-01

    Influenced by the gold-rush in 1848,many people from South China began to emigrate to the USA.Before the Second World War,persecuted for a long time by Chinese Exclusion Act,the Chinese immigrants lived a hard life in the different culture.And education became an important means to continuing Chinese traditional culture,and placing their national feelings.By the main contents of cultural study accompanied with language study,and by the main form of family education and community education,the traditional education has played a role of tying the Overseas Chinese with their motherland,which strengthens national consciousness of the young generation and forms strong national culture identity.%受1848年淘金热影响,我国华南民众开始移民美国。在二战以前,受排华法长期影响,华人移民在异质文化中艰难生存,教育成为延续中国传统文化、寄托民族感情的重要手段。以语言学习伴随的文化学习为主要内容,以家庭教育和社区中文学校教育为主要形式,传统文化教育一直维系着华人与祖国的感情联系,强化着青年一代的民族意识,形成了强烈的民族文化认同。

  13. The tRNA(Gly) T10003C mutation in mitochondrial haplogroup M11b in a Chinese family with diabetes decreases the steady-state level of tRNA(Gly), increases aberrant reactive oxygen species production, and reduces mitochondrial membrane potential.

    Science.gov (United States)

    Li, Wei; Wen, Chaowei; Li, Weixing; Wang, Hailing; Guan, Xiaomin; Zhang, Wanlin; Ye, Wei; Lu, Jianxin

    2015-10-01

    Mitochondrial diabetes originates mainly from mutations located in maternally transmitted, mitochondrial tRNA-coding genes. In a genetic screening program of type 2 diabetes conducted with a Chinese Han population, we found one family with suggestive maternally transmitted diabetes. The proband's mitochondrial genome was analyzed using DNA sequencing. Total 42 known nucleoside changes and 1 novel variant were identified, and the entire mitochondrial DNA sequence was assigned to haplogroup M11b. Phylogenetic analysis showed that a homoplasmic mutation, 10003T>C transition, occurred at the highly conserved site in the gene encoding tRNA(Gly). Using a transmitochondrial cybrid cell line harboring this mutation, we observed that the steady-state level of tRNA(Gly) significantly affected and the amount of tRNA(Gly) decreased by 97%, production of reactive oxygen species was enhanced, and mitochondrial membrane potential, mtDNA copy number and cellular oxygen consumption rate were remarkably decreased compared with wild-type cybrid cells. The homoplasmic 10003T>C mutation in the mitochondrial tRNA(Gly) gene suggested to be as a pathogenesis-related mutation which might contribute to the maternal inherited diabetes in the Han Chinese family. PMID:26134044

  14. The Influence of Differential Leadership on Employee and Team Creativity in Chinese Family Businesses:A Multilevel and Longitudinal Study%中国家族企业成长中差序式领导对员工及团队创造力的影响:一个跨层次跟踪研究

    Institute of Scientific and Technical Information of China (English)

    王磊

    2015-01-01

    How to boost organizational creativity in the complex and dynamic environment is of theoretical significance. For the Chinese family businesses in transition society, however, there is a trade-off between differential leadership which is based on a family logic and innovational requirement of a business logic. How to balance these two logics is extremely important for the growth of Chinese family businesses. This study attempts to unpack the dynamic process between differential leadership and employee and team creativity from the perspectives of employee psychology and team interaction. We make four contributions to the existing literatures. First, by using a multilevel and longitudinal design, we reveal the underlying mechanisms that how differential leadership influence employee and team creativity as well as the growth of Chinese family businesses. Second, from the motivation, cognitive and emotional perspectives, and also by focusing on the Chinese indigenous concepts of “Ren” and “Pao”, we unpack the psychological dynamics between differential leadership and employee creativity. Third, besides interactionism, we also investigate the relationship between differential leadership and team creativity from the network structure perspective. Finally, this paper clarifies the contextualized factors that differential leadership affects employee creativity. It provides managerial implications for Chinese family businesses.%在动态复杂的环境中,组织如何保持创造力是学者们一直关注的重点。而对于面临转型困境的中国家族企业而言,基于家族逻辑而形成的内外有别的差序式领导风格和基于企业逻辑而要求的组织持续创新看似会存在矛盾,如何看待这两者之间的作用过程对于家族企业顺利转型至关重要。基于此,本研究试图从员工心理和团队互动两个层面来建构差序式领导影响员工及团队创造力的动态过程。

  15. Clinical, molecular pathological and genetic analysis of a Chinese family with dystrophinopathy%抗肌萎缩蛋白病一家系的临床、分子病理及遗传学特点

    Institute of Scientific and Technical Information of China (English)

    罗静; 熊晖; 王小竹; 钟南; 王静敏; 姜玉武; 吴希如

    2008-01-01

    目的 分析并确定1个抗肌萎缩蛋白病(dystrophinopathy)家系的临床、分子病理及遗传学特征.方法 收集先证者及其家系成员的临床资料,对先证者行肌肉活体组织检查,采用抗层黏连蛋白α2(1aminin α2,又称merosin)、抗emerin蛋白、抗肌萎缩蛋白(dystrophin)中央棒状区(Dys1)、C′末端(Dys2)、N′末端(Dys3)单克隆抗体行免疫组织化学染色;提取外周血基因组DNA,采用多重连接探针扩增(MLPA)进行抗肌萎缩蛋白Duchenne型肌营养不良(DMD)基因检测.结果 该家系中包括先证者在内共有3例患者临床诊断为肌营养不良,均无腓肠肌肥大,但病情重、进展较快,同时先证者肌肉活体组织检查行免疫组织化学染色提示dystrephin蛋白部分缺失,merosin、emerin染色呈阳性表达.MLPA检测显示先证者DMD基因第45~54外显子缺失,其母在第45~54外显子区域为杂合性缺失.结论 该家系中的先证者DMD基因为第45~54外显子缺失,突变基因来自母亲,其母为表型正常的携带者.dystrophin蛋白表达异常是造成抗肌萎缩蛋白病表型的病理基础,其临床后果不仅取决于dystrophin蛋白表达缺失的程度,还取决于DMD基因缺失区域的功能.%Objective To analyze and determine the clinical, molecular pathology and genetic features of a Chinese family with dystrophinopathy. Methods Clinical data of the proband and his family members were collected. Immunohistochemistry staining was performed on muscular biopsy tissues with antimerosin, emerin and the N, C and central rod domains of dystrophin. Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes. Multiplex ligation-dependent probe amplification (MLPA) was used to test Duchenne muscular dystrophy (DMD) gene to determine the ways and sites of genetic mutation, and analyze the relationships between genotype and phenotype. Results Patients from this family were clinically diagnosed as

  16. Colonic polyp patterns in familial polyposis.

    Science.gov (United States)

    Bartram, C I; Thornton, A

    1984-02-01

    The diagnosis of familial polyposis depends on there being more than 100 adenomatous polyps in the large bowel. The polyps are the result of intramucosal microadenomatous growth. The age at which this occurs varies, and in the early stages of polyp development relatively few larger polyps may be seen. The numbers and size of the polyps as seen on double-contrast barium enema were compared with the macroscopic findings on the resected specimens in 27 patients with proven polyposis. Of these patients, 23 (83%) were diagnosed when polyps were first found at sigmoidoscopy. Radiologically the predominant polyp size was more than 5 mm in only four cases, 2-5 mm in 22 (81%), and less than 2 mm in one. Of the 22 with predominately 2-5 mm polyps, eight had significant numbers of nodules smaller than 2 mm and three had considerable numbers of polyps larger than 5 mm. Eleven (41%) were thought to have fewer than 70 polyps. Pathologically the nodular pattern (less than 2 mm) predominated in 11 (41%) and 14 had polyps of 2-5 mm. More than 100 polyps were present in each case, with fewer than 500 polyps in eight. In the 11 patients thought radiologically to have fewer than 70 polyps, the nodular pattern predominated in nine. In the initial stages of polyp growth, the larger polyps are less numerous, and the background nodular pattern is a useful diagnostic feature of familial polyposis. PMID:6607595

  17. Family planning in China.

    Science.gov (United States)

    Wadia, A B

    1976-10-01

    The family planning program in China is integrated into the general political situation and the overall development program. The organization covers workers, peasants, and soldiers. The program is based on the following 3 aspects of Chinese society: 1) the equality of women, 3) late marriage, and 3) free and accessible contraceptive services. No incentives are offered since family planning is considered a national duty. Participation is said to be voluntary but peer opinion exerts its own social pressure. All contraceptive devices used in China are domestically produced. Barefoot doctors have a large role in their distribution. Examples from several localities indicate that the acceptance rate for contraception is high. An official with the Health Ministry is quoted regarding the family planning program. PMID:12277575

  18. Happy (Chinese) New Year!

    Science.gov (United States)

    Johnson, Georgia G.

    1979-01-01

    Suggestions are made for a classroom celebration of Chinese New Year, including discussion of the Chinese calendar and customs, a short list of appropriate children's stories, and food ideas, including a recipe for fortune cookies. (SJL)

  19. A Case Study Comparing the Chinese Family Businesses in HK%治理家族与家业长青--香港华人家族企业的比较案例研究

    Institute of Scientific and Technical Information of China (English)

    杨学儒; 朱沆; 李军; 郭萍

    2013-01-01

      本文区分了家族企业研究只关注企业成长、只关注家族长存和同时关注家族和企业的三类前提假设,并基于第三类前提假设比较分析了香港李锦记集团的李氏家族和香港利丰集团的冯氏家族案例,明晰了家族的企业、企业的家族和家业的概念,分析了治理家族对促进家业长青的意义。%We argue that there are three kinds of research on family business:the first is only concerned with the growth of business, the second only with the lasting existence of family and the third with both of the two. Based on the three assump-tions, we have made a comparative analysis of the businesses of the Lee family of Lee Kum Kee Group and the Fung family of Li&Fung Group to distinguish the concepts of family business, family and family property. We have also discussed the sig-nificance of fine family governance for keeping the family business thriving.

  20. Chinese restaurant syndrome

    Directory of Open Access Journals (Sweden)

    Balachandran C

    1991-01-01

    Full Text Available A 24-year-old Chinese student with history of recurrent attacks of flushing with burning and dryness of face of 4 years duration showed exacerbation of the symptoms after oral provocation with 1 mg of Chinese salt. Patient was treated with 50 mg pyridoxine daily and restriction of the Chinese salt in diet with moderate improvement.