WorldWideScience

Sample records for catalonian fap families

  1. Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

    Directory of Open Access Journals (Sweden)

    Gómez-Fernández Nuria

    2009-06-01

    Full Text Available Abstract Background Familial adenomatous polyposis (FAP is an autosomal dominant-inherited colorectal cancer syndrome, caused by germline mutations in the APC gene. Recently, biallelic mutations in MUTYH have also been identified in patients with multiple colorectal adenomas and in APC-negative patients with FAP. The aim of this work is therefore to determine the frequency of APC and MUTYH mutations among FAP families from two Spanish populations. Methods Eighty-two unrelated patients with classical or attenuated FAP were screened for APC germline mutations. MUTYH analysis was then conducted in those APC-negative families and in 9 additional patients from a previous study. Direct sequencing, SSCP analysis and TaqMan genotyping were used to identify point and frameshift mutations, meanwhile large rearrangements in the APC gene were screened by multiplex ligation-dependent probe amplification (MLPA. Results APC germline mutations were found in 39% of the patients and, despite the great number of genetic variants described so far in this gene, seven new mutations were identified. The two hotspots at codons 1061 and 1309 of the APC gene accounted for 9,4% of the APC-positive families, although they were underrepresented in Galician samples. The deletion at codon 1061 was not found in 19 APC-positive Galician patients but represented 23% of the Catalonian positive families (p = 0,058. The same trend was observed at codon 1309, even though statistical analysis showed no significance between populations. Twenty-four percent of the APC-negative patients carried biallelic MUTYH germline mutations, and showed an attenuated polyposis phenotype generally without extracolonic manifestations. New genetic variants were found, as well as the two hotspots already reported (p.Tyr165Cys and p.Gly382Asp. Conclusion The results we present indicate that in Galician patients the frequency of the hotspot at codon 1061 in APC differs significantly from the Catalonian

  2. 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 familial adenomatous polyposis (FAP). The present study aimed at examining whether a particular APC genotype could be delineated in FAP patients with benign extracolonic manifestations: sebaceous cysts and/or osteomas. A questionnaire was sent to all Danish FAP patients (N = 234) asking for occurrence...... of sebaceous cysts and palpable osteomas. Medical records later verified positive findings, when possible. The results for each patient were correlated to the position of his or her mutation in the APC gene. Positive participation compliance was 77% (N = 180), and in 105 of these patients the pathogenic APC...

  3. 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 familial adenomatous polyposis (FAP). The present study aimed at examining whether a particular APC genotype could be delineated in FAP patients with benign extracolonic manifestations: sebaceous cysts and/or osteomas. A questionnaire was sent to all Danish FAP patients (N = 234) asking for occurrence...... of sebaceous cysts and palpable osteomas. Medical records later verified positive findings, when possible. The results for each patient were correlated to the position of his or her mutation in the APC gene. Positive participation compliance was 77% (N = 180), and in 105 of these patients the pathogenic APC...

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

    DEFF Research Database (Denmark)

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

    2008-01-01

    BACKGROUND: Familial adenomatous polyposis (FAP) is a well-described inherited syndrome, which is responsible for 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...... if they are not identified and treated at an early stage. The syndrome is inherited as an autosomal dominant trait and caused by mutations in the APC gene. Recently, a second gene has been identified that also gives rise to colonic adenomatous polyposis, although the phenotype is less severe than typical FAP. The gene...

  5. Recurrent APC gene mutations in Polish FAP families

    Directory of Open Access Journals (Sweden)

    Pławski Andrzej

    2007-12-01

    Full Text Available Abstract The molecular diagnostics of genetically conditioned disorders is based on the identification of the mutations in the predisposing genes. Hereditary cancer disorders of the gastrointestinal tracts are caused by mutations of the tumour suppressor genes or the DNA repair genes. Occurrence of recurrent mutation allows improvement of molecular diagnostics. The mutation spectrum in the genes causing hereditary forms of colorectal cancers in the Polish population was previously described. In the present work an estimation of the frequency of the recurrent mutations of the APC gene was performed. Eight types of mutations occurred in 19.4% of our FAP families and these constitute 43% of all Polish diagnosed families.

  6. Late-onset familial amyloid polyneuropathy (FAP) Val30Met without family history.

    OpenAIRE

    Rudolph, Thomas; Kurz, Martin Wilhelm; Farbu, Elisabeth

    2009-01-01

    Familial amyloid polyneuropathy (FAP) is rare and most commonly caused by the Val30Met mutation of the transthyretin (TTR) gene. Beside polyneuropathy, other complications due to amyloid deposits occur, but may vary in phenotype. The mutation tends to occur in endemic clusters. We describe a 65-year-old man from a non-endemic FAPVal30Met area who developed a progressive generalized painless axonal sensorimotor polyneuropathy with mild autonomic involvement and absent FAP symptoms in the famil...

  7. FAP Associated Papillary Thyroid Carcinoma: A Peculiar Subtype of Familial Nonmedullary Thyroid Cancer

    Directory of Open Access Journals (Sweden)

    Francesco Cetta

    2015-01-01

    Full Text Available Familial Nonmedullary Thyroid Carcinoma (FNMTC makes up to 5–10% of all thyroid cancers, also including those FNMTC occurring as a minor component of familial cancer syndromes, such as Familial Adenomatous Polyposis (FAP. We give evidence that this extracolonic manifestation of FAP is determined by the same germline mutation of the APC gene responsible for colonic polyps and cancer but also shows some unusual features (F : M ratio = 80 : 1, absence of LOH for APC in the thyroid tumoral tissue, and indolent biological behaviour, despite frequent multicentricity and lymph nodal involvement, suggesting that the APC gene confers only a generic susceptibility to thyroid cancer, but perhaps other factors, namely, modifier genes, sex-related factors, or environmental factors, are also required for its phenotypic expression. This great variability is against the possibility of classifying all FNMTC as a single entity, not only with a unique or prevalent causative genetic factor, but also with a unique or common biological behavior and a commonly dismal prognosis. A new paradigm is also suggested that could be useful (1 for a proper classification of FAP associated PTC within the larger group of FNMTC and (2 for making inferences to sporadic carcinogenesis, based on the lesson from FAP.

  8. Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects

    Directory of Open Access Journals (Sweden)

    Vesela Kamila

    2007-04-01

    Full Text Available Abstract Background Germline mutations in the adenomatous polyposis gene (APC result in familial adenomatous polyposis (FAP. FAP is an autosomal dominantly inherited disorder predisposing to colorectal cancer. Typical FAP is characterized by hundreds to thousands of colorectal adenomatous polyps and by several extracolonic manifestations. An attenuated form of polyposis (AFAP is characterized by less than 100 adenomas and later onset of the disease. Methods Here, we analyzed the APC gene for germline mutations in 59 Czech and 15 Slovak FAP patients. In addition, 50 apparently APC mutation negative Czech probands and 3 probands of Slovak origin were screened for large deletions encompassing the APC gene. Mutation screening was performed using denaturing gradient gel electrophoresis and/or protein truncation test. DNA fragments showing an aberrant electrophoretic banding pattern were sequenced. Screening for large deletions was performed by multiplex ligation dependent probe amplification. The extent of deletions was analyzed using following microsatellite markers: D5S299, D5S82, D5S134 and D5S346. Results In the set of Czech and Slovak patients, we identified 46 germline mutations among 74 unrelated probands. Total mutation capture is 62,2% including large deletions. Thirty seven mutations were detected in 49 patients presenting a classical FAP phenotype (75,5% and 9 mutations in 25 patients with attenuated FAP (36%. We report 20 novel germline APC mutations and 3 large deletions (6% encompassing the whole-gene deletions and/or exon 14 deletion. In the patients with novel mutations, correlations of the mutation localization are discussed in context of the classical and/or attenuated phenotype of the disease. Conclusion The results of the molecular genetic testing are used both in the establishment of the predictive diagnosis and in the clinical management of patients. In some cases this study has also shown the difficulty to classify clinically

  9. Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey.

    Science.gov (United States)

    Durmuş-Tekçe, Hacer; Matur, Zeliha; Mert Atmaca, Murat; Poda, Mehves; Çakar, Arman; Hıdır Ulaş, Ümit; Oflazer-Serdaroğlu, Piraye; Deymeer, Feza; Parman, Yesim G

    2016-07-01

    Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. The mutant amyloidogenic transthyretin protein causes the systemic accumulation of amyloid fibrils that result in organ dysfunction. TTR-associated FAP is a progressive and fatal disease, if left untreated, and should be considered in the differential diagnosis of any person presenting with a progressive polyneuropathy, particularly with accompanying autonomic involvement. The clinical, electrophysiological, histopathological, and genetic characteristics of 17 patients from Turkey (5 female, 13 male) from nine families with polyneuropathy and mutations in TTR were evaluated. Sequence analysis of the TTR gene revealed five mutations (Val30Met, Glu89Gln, Gly53Glu, Glu54Gly and Gly47Glu). Mean age at disease onset was 40.4 ± 13.9 years (range 21-66 years). The most commonly reported initial complaint was paresthesia in the feet (asymmetric in three patients). Three patients (2 male) with the Glu89Gln mutation presented with carpal tunnel syndrome. Two patients with the Gly53Glu mutation showed episodes of dysarthria and hemiparesis, consistent with this genotype. Seven patients died during the period of follow-up as a result of systemic involvement. Our study suggests that a cohort of patients from Turkey with TTR-FAP exhibits clinical and genetic heterogeneity.

  10. 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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1993-11-01

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

  12. Structural insight into the role of Streptococcus parasanguinis Fap1 within oral biofilm formation

    Energy Technology Data Exchange (ETDEWEB)

    Garnett, James A.; Simpson, Peter J.; Taylor, Jonathan; Benjamin, Stefi V.; Tagliaferri, Camille; Cota, Ernesto [Department of Biological Sciences, Centre for Structural Biology, Imperial College London, South Kensington, London SW7 2AZ (United Kingdom); Chen, Yi-Ywan M. [Department of Microbiology and Immunology, and Research Center for Pathogenic Bacteria, Chang Gung University, Tao-Yuan, Taiwan (China); Wu, Hui [Department of Pediatric Dentistry, University of Alabama at Birmingham, School of Dentistry, Birmingham, AL 35294 (United States); Matthews, Stephen, E-mail: s.j.matthews@imperial.ac.uk [Department of Biological Sciences, Centre for Structural Biology, Imperial College London, South Kensington, London SW7 2AZ (United Kingdom)

    2012-01-06

    Highlights: Black-Right-Pointing-Pointer Crystal structure of Streptococcus parasanguinis Fap1-NR{sub {alpha}} at pH 5.0. Black-Right-Pointing-Pointer pH-dependent conformational changes mediated through electrostatic potential of Fap1-NR{sub {alpha}}. Black-Right-Pointing-Pointer Fap1 facilitates pH-dependent biofilms. Black-Right-Pointing-Pointer We model inter-Fap1 biofilm interactions. -- Abstract: The fimbriae-associated protein 1 (Fap1) is a major adhesin of Streptococcus parasanguinis, a primary colonizer of the oral cavity that plays an important role in the formation of dental plaque. Fap1 is an extracellular adhesive surface fibre belonging to the serine-rich repeat protein (SRRP) family, which plays a central role in the pathogenesis of streptococci and staphylococci. The N-terminal adhesive region of Fap1 (Fap1-NR) is composed of two domains (Fap1-NR{sub {alpha}} and Fap1-NR{sub {beta}}) and is projected away from the bacterial surface via the extensive serine-rich repeat region, for adhesion to the salivary pellicle. The adhesive properties of Fap1 are modulated through a pH switch in which a reduction in pH results in a rearrangement between the Fap1-NR{sub {alpha}} and Fap1-NR{sub {beta}} domains, which assists in the survival of S. parasanguinis in acidic environments. We have solved the structure of Fap1-NR{sub {alpha}} at pH 5.0 at 3.0 A resolution and reveal how subtle rearrangements of the 3-helix bundle combined with a change in electrostatic potential mediates 'opening' and activation of the adhesive region. Further, we show that pH-dependent changes are critical for biofilm formation and present an atomic model for the inter-Fap1-NR interactions which have been assigned an important role in the biofilm formation.

  13. [A Case of Metachronous Multiple Thyroid Papillary Carcinoma with FAP].

    Science.gov (United States)

    Tajima, Yusuke; Kumamoto, Kensuke; Yamamoto, Azusa; Chika, Noriyasu; Watanabe, Yuichiro; Matsuzawa, Takeaki; Ishibashi, Keiichiro; Mochiki, Erito; Iwama, Takeo; Akagi, Kiwamu; Ishida, Hideyuki

    2015-11-01

    Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder, the result of a germ line mutation in the adenomatous polyposis coli (APC) gene. FAP can be associated with various extracolonic lesions, including thyroid cancer, which frequently occurs in women. We report the case of a 36-year-old woman diagnosed as having FAP with multiple metachronous thyroid papillary carcinomas. She underwent left thyroidectomy at the age of 19 years without a diagnosis of FAP. Multiple polyps in her stomach were detected by medical examination and more than 100 polyps in the colon were found by colonoscopy. She was referred to our hospital after a diagnosis of non-profuse FAP. Multiple tumors with a maximum diameter of 10mm were detected in the right lobe of the thyroid gland during the preoperative examination. Papillary carcinoma was suspected based on fine-needle aspiration cytology. We performed a right thyroidectomy after prophylactic colectomy. Pathological findings revealed a cribriform-morula variant of papillary thyroid carcinoma. The patient remains well after 2 year 6 months with no recurrence.

  14. Change of offices for the FAP Department

    CERN Multimedia

    FAP Department

    2016-01-01

    The FAP Department would like to inform personnel that, due to office renovation work, a number of FAP services currently located on the third floor of building 4 and on the first floor of building 33 will move to temporary offices in building 653 as from late June.   The following services will be relocated to: Accounting services (J. Robinson): FAP-ACC-AP – Accounts Payable, to bldg 653-R-008 – C. Marme FAP-ACC-GA – General Accounting, to bldg 653-1-007 – C. Poncet FAP-ACC-PA – Salary Office, to bldg 653-R-011 – S. Baudat FAP-ACC-PA – Claims, to bldg 653-R-007 – S. Baudat   And the section FAP-TPR-MI - Monitoring and reporting (L. Lockwood) will be located in the office 653-1-016.   The removals will take place from Thursday 30 June until Tuesday 5 July 2016 inclusive and during this period, telephone and e-mail contact may be disrupted. Temporary office number...

  15. When Mr. Fap Meets the Gals.

    Science.gov (United States)

    Ghosh, Santosh K; Weinberg, Aaron

    2016-08-10

    Fusobacteria are found to be overrepresented in the colorectal tumor microenvironment. In this issue of Cell Host & Microbe, Abed et al. (2016) describe a novel homing mechanism by which fusobacteria localize to tumors by recognizing a host polysaccharide (Gal-GalNAc) on cancer cells using a fusobacterial lectin, Fap2. PMID:27512897

  16. Surgical considerations in FAP-related pouch surgery: Could we do better?

    Science.gov (United States)

    Möslein, Gabriela

    2016-07-01

    The ileoanal pouch has become the standard restorative procedure of choice for patients with the classical phenotype in FAP (familial adenomatous polyposis) and also for ulcerative colitis (UC). Whilst we tend to encounter descriptive analyses comparing functional outcome, fertility and quality of life (QOL) between series in literature, there may be an urgent need to discuss the subtle technical modifications that may be pivotal for improving long-term QOL in FAP patients. Our aim is to review the current literature and discuss the aspects of ileal pouch-anal anastomosis that may require specific reevaluation for FAP. Surgical strategies aimed at minimizing post-interventional desmoid growth is one of the most important aspects. For this study, the following topics of interest were selected: Timing of surgery, IRA or ileoanal pouch for classical FAP, laparoscopic or conventional surgery, TME or mesenteric dissection, preservation of the ileocolic vessels, handsewn or double-staple anastomosis, shape and size of pouch, protective ileostomy, Last and definitely not least: how to manage desmoid plaques or desmoids at the time of prophylactic surgery. For the depicted technicalities of the procedure, a review of recent literature was performed and evaluated. For the topics selected, only sparse reference in literature was identified that was focused on the specific condition situation of FAP. Almost all pouch literature focusses on the procedural aspects, and FAP patients are always a very minor number. Therefore it becomes obvious that the specific entity is not adequately taken into account. This is a serious bias for identification of important steps in the procedure that may be beneficial for patients with either of the diseases. The results of this study demonstrate that several technical differences for construction of ileoanal pouches in FAP patients deserve more attention and prospective evaluation-perhaps even randomized trials. The role, importance and

  17. A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II).

    OpenAIRE

    Wallace, M. R.; Conneally, P M; Benson, M D

    1988-01-01

    Autosomal dominant amyloidosis of the Indiana/Swiss type is a late-onset disorder characterized by carpal tunnel syndrome, progressive peripheral neuropathy, vitreous deposits, and cardiomyopathy. This disorder was originally described in a large Indiana family of Swiss descent and is also known as familial amyloidotic polyneuropathy (FAP) type II. In the Indiana family, the genetic basis of the disease is a variant of plasma prealbumin (transthyretin), which has a serine-for-isoleucine subst...

  18. Conservation genetics of an endangered Catalonian cattle breed ("Alberes"

    Directory of Open Access Journals (Sweden)

    J. Jordana

    1999-09-01

    Full Text Available We biochemically analyzed and characterized the genetic structure of a population in danger of extinction ,"Alberes", a local cattle breed of the Catalonian Pyrenees (Spain and France. Ninety-two individuals were analyzed for five polymorphic genetic loci (Hb, Alb, Tf, Gc and Ptf2. The animals were grouped according to coat color: Fagina Alberes variety (N = 39 and Black Alberes variety (N = 53. The genetic structures and relationships between these subpopulations and one "outgroup" breed ("Bruna dels Pirineus" were analyzed and compared by using F-statistics. We determined that inbreeding in the Alberes breed is not significant, since negative and nonsignificant FIT and FIS values were obtained. The average genetic differentiation between subpopulations within the Alberes breed was 1.5% (FST = 0.015; P A estrutura génetica de uma população de Alberes, uma raça de gado dos Pirineus catalônicos (Espanha e França em risco de extinção, foi analisada e caracterizada bioquimicamente. Noventa e dois indivíduos foram analisados para 5 loci genéticos polimórficos (Hb, Alb, Tf, Gc e Ptf2. Os animais foram agrupados de acordo com a cor do pêlo: variedade Fagina Alberes (N = 39 e Black Alberes (N = 53. As estruturas genéticas e as relações entre estas subpopulações e uma raça extra ("Bruna dels Pirineus" foram analisadas e comparadas pela estatística F. A endogamia na raça Alberes não foi significante, pois foram obtidos valores FIT e FIS negativos e não significantes. A diferenciação genética média entre as subpopulações dentro da raça Alberes foi 1,5% (FST = 0,015; P < 0,05, com um número efetivo de 4,1 indivíduos trocados entre as subpopulações por geração (fluxo de gene. Os resultados obtidos neste estudo confirmaram o perigo potencial de extinção da raça. A variedade Black Alberes é sugerida como o principal núcleo de conservação genética para esta raça, pois parece mostrar maior grau de isolamento gen

  19. Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients

    Directory of Open Access Journals (Sweden)

    Fountzilas George

    2010-07-01

    Full Text Available Abstract Background Familial adenomatous polyposis, an autosomal dominant inherited disease caused by germline mutations within the APC gene, is characterized by early onset colorectal cancer as a consequence of the intrinsic phenotypic feature of multiple colorectal adenomatic polyps. The genetic investigation of Greek adenomatous polyposis families was performed in respects to APC and MUTYH germline mutations. Additionally, all available published mutations were considered in order to define the APC mutation spectrum in Greece. Methods A cohort of 25 unrelated adenomatous polyposis families of Greek origin has been selected. Genetic testing included direct sequencing of APC and MUTYH genes. APC gene was also checked for large genomic rearrangements by MLPA. Results Analysis of the APC gene performed in a Greek cohort of twenty five FAP families revealed eighteen different germline mutations in twenty families (80%, four of which novel. Mutations were scattered between exon 3 and codon 1503 of exon 15, while no large genomic rearrangements were identified. Conclusion This concise report describes the spectrum of all APC mutations identified in Greek FAP families, including four novel mutations. It is concluded that the Greek population is characterized by genetic heterogeneity, low incidence of genomic rearrangements in APC gene and lack of founder mutation in FAP syndrome.

  20. 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...

  1. Stable isotope geochemistry of the Ulldemolins Pb-Zn-Cu deposit (SW Catalonian Coastal Ranges, Spain)

    OpenAIRE

    Alfonso, P.; Canet, C.; Melgarejo i Draper, Joan-Carles; Mata i Perelló, Josep M. (Josep Maria); Fallick, A.E.

    2012-01-01

    The Pb-Zn-Cu deposit of Ulldemolins occurs within the Carboniferous sedimentary series of the southernmost Catalonian Coastal Ranges. It consists of sulphide-bearing calc-silicate assemblages, with epidote, Ca-amphiboles and Ca-garnet, which develop selectively along a dolomicrite bed near the contact with a granite porphyry. Two mineralisation styles can be differentiated: a) banded and b) irregular. Fluid inclusions and stable isotope compositions of sulphur in sulphides (sphalerite, galena...

  2. Catalonian pork value chain’s resilience: ready for environmental challenge?

    OpenAIRE

    Soldevila, Victoria; Viladomiu, Lourdes; Frances, Gemma

    2009-01-01

    The hog production model in Catalonia (Spain) has been, until recently, an example of success. Inventories and production have been increasing substantially and the sector has proven to have great export potential. Also, the Catalonian hog model has allowed the survival of crops and fruits’ small farms, through diversification with pork. Part of this success is based on the organizational system of the value chain or, as we call, “governance instruments” of the value chain. These “governance ...

  3. Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP

    NARCIS (Netherlands)

    Cheng, Timothy H T; Gorman, Maggie; Martin, Lynn; Barclay, Ella; Casey, Graham; Saunders, Brian; Thomas, Huw; Clark, Sue; Tomlinson, Ian; Peeters, PHM

    2015-01-01

    The presence of multiple (5-100) colorectal adenomas suggests an inherited predisposition, but the genetic aetiology of this phenotype is undetermined if patients test negative for Mendelian polyposis syndromes such as familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). We inv

  4. PTT analysis of polyps from FAP patients reveals a great majority of APC truncating mutations

    Energy Technology Data Exchange (ETDEWEB)

    Luijt, R.B. van der; Khan, P.M.; Tops, C.M.J. [Leiden Univ., (Netherlands)] [and others

    1994-09-01

    The adenomatous polyposis coli (APC) gene plays an important role in colorectal carcinogenesis. Germline APC mutations are associated with familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer, characterized by the development of numerous adenomatous polyps in the large intestine. In order to investigate whether somatic inactivation of the remaining APC allele is necessary for adenoma formation, we collected multiple adenomatous polyps from individual FAP patients and investigated the presence of somatic mutations in the APC gene. The analysis of somatic APC mutations in these tumor samples was performed using a rapid and sensitive assay, called the protein truncation test (PTT). Chain-terminating somatic APC mutations were detected in the great majority of the tumor samples investigated. As expected, these mutations were mainly located in the mutation cluster region (MCR) in exon 15. Our results confirm that somatic mutation of the second APC allele is required for adenoma formation in FAP. Interestingly, in the polyps investigated in our study, the second APC allele is somatically inactivated through point mutation leading to a stop codon rather than by loss of heterozygosity. The observation that somatic second hits in APC are required for tumor development in FAP is in apparent accordance with the Knudson hypothesis for classical tumor suppressor genes. However, it is yet unknown whether chain-terminating APC mutations lead to a truncated protein exerting a dominant-negative effect or whether these mutations result in a null allele. Further investigation of this important issue will hopefully provide a better understanding of the mechanism of action of the mutated APC alleles in colorectal carcinogenesis.

  5. In vivo near-infrared fluorescence imaging of FAP-expressing tumors with activatable FAP-targeted, single-chain Fv-immunoliposomes.

    Science.gov (United States)

    Rüger, Ronny; Tansi, Felista L; Rabenhold, Markus; Steiniger, Frank; Kontermann, Roland E; Fahr, Alfred; Hilger, Ingrid

    2014-07-28

    Molecular and cellular changes that precede the invasive growth of solid tumors include the release of proteolytic enzymes and peptides in the tumor stroma, the recruitment of phagocytic and lymphoid infiltrates and alteration of the extracellular matrix. The reactive tumor stroma consists of a large number of myofibroblasts, characterized by high expression of fibroblast activation protein alpha (FAP). FAP, a type-II transmembrane sialoglycoprotein is an attractive target in diagnosis and therapy of several pathologic disorders especially cancer. In the underlying work, a fluorescence-activatable liposome (fluorescence-quenched during circulation and fluorescence activation upon cellular uptake), bearing specific single-chain Fv fragments directed against FAP (scFv'FAP) was developed, and its potential for use in fluorescence diagnostic imaging of FAP-expressing tumor cells was evaluated by whole body fluorescence imaging. The liposomes termed anti-FAP-IL were prepared via post-insertion of ligand-phospholipid-conjugates into preformed DY-676-COOH-containing liposomes. The anti-FAP-IL revealed a homogeneous size distribution and showed specific interaction and binding with FAP-expressing cells in vitro. The high level of fluorescence quenching of the near-infrared fluorescent dye sequestered in the aqueous interior of the liposomes enables fluorescence imaging exclusively upon uptake and degradation by cells, which results in fluorescence activation. Only FAP-expressing cells were able to take up and activate fluorescence of anti-FAP-IL in vitro. Furthermore, anti-FAP-IL accumulated selectively in FAP-expressing xenograft models in vivo, as demonstrated by blocking experiments using free scFv'FAP. The local tumor fluorescence intensities were in agreement with the intrinsic degree of FAP-expression in different xenograft models. Thus, anti-FAP-IL can serve as a suitable in vivo diagnostic tool for pathological disorders accompanied by high FAP-expression.

  6. Surveillance of FAP: a prospective blinded comparison of capsule endoscopy and other GI imaging to detect small bowel polyps

    Directory of Open Access Journals (Sweden)

    Tescher Paul

    2010-04-01

    Full Text Available Abstract Background Familial adenomatous polyposis (FAP is a hereditary disorder characterized by polyposis along the gastrointestinal tract. Information on adenoma status below the duodenum has previously been restricted due to its inaccessibility in vivo. Capsule Endoscopy (CE may provide a useful adjunct in screening for polyposis in the small bowel in FAP patients. This study aims to evaluate the effectiveness of CE in the assessment of patients with FAP, compared to other imaging modalities for the detection of small bowel polyps. Method 20 consecutive patients with previously diagnosed FAP and duodenal polyps, presenting for routine surveillance of polyps at The Royal Melbourne Hospital were recruited. Each fasted patient initially underwent a magnetic resonance image (MRI of the abdomen, and a barium small bowel follow-through study. Capsule Endoscopy was performed four weeks later on the fasted patient. An upper gastrointestinal side-viewing endoscopy was done one (1 to two (2 weeks after this. Endoscopists and investigators were blinded to results of other investigations and patient history. Results Within the stomach, upper gastrointestinal endoscopy found more polyps than other forms of imaging. SBFT and MRI generally performed poorly, identifying fewer polyps than both upper gastrointestinal and capsule endoscopy. CE was the only form of imaging that identified polyps in all segments of the small bowel as well as the only form of imaging able to provide multiple findings outside the stomach/duodenum. Conclusion CE provides important information on possible polyp development distal to the duodenum, which may lead to surgical intervention. The place of CE as an adjunct in surveillance of FAP for a specific subset needs consideration and confirmation in replication studies. Trial Registration Australian New Zealand Clinical Trials Registry ACTRN12608000616370

  7. Development and Preliminary Evaluation of a FAP Protocol: Brief Relationship Enhancement

    Science.gov (United States)

    Holman, Gareth; Kohlenberg, Robert J.; Tsai, Mavis

    2012-01-01

    The purpose of this study was to develop a brief Functional Analytic Psychotherapy (FAP) protocol that will facilitate reliable implementation of FAP interventions, thus supporting research on FAP process and outcome. The treatment was a four-session individual therapy for clients who were interested in improving their relationship with their…

  8. Functional Analytic Psychotherapy (FAP) in Ibero-America: Review of Current Status and Some Proposals

    Science.gov (United States)

    Munoz-Martinez, Amanda; Novoa-Gomez, Monica; Gutierrez, Rochy Vargas

    2012-01-01

    Functional Analytic Psychotherapy (FAP) has been making an important rise in Ibero-America in recent years. This paper presents a review of different contributions, problems and some proposals. Three principal topics are reviewed: (a) general characteristics and theoretical bases of FAP, (b) the uses of FAP and its relationship with other…

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

    NARCIS (Netherlands)

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

    2011-01-01

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

  10. 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...

  11. Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP

    Science.gov (United States)

    Cheng, Timothy H T; Gorman, Maggie; Martin, Lynn; Barclay, Ella; Casey, Graham; Newcomb, Polly A; Casey, Graham; Conti, David V; Schumacher, Fred; Gallinger, Steve; Lindor, Noralane M; Hopper, John; Jenkins, Mark; Hunter, David J; Kraft, Peter; Jacobs, Kevin B; Cox, David G; Yeager, Meredith; Hankinson, Susan E; Wacholder, Sholom; Wang, Zhaoming; Welch, Robert; Hutchinson, Amy; Wang, Junwen; Yu, Kai; Chatterjee, Nilanjan; Orr, Nick; Willett, Walter C; Colditz, Graham A; Ziegler, Regina G; Berg, Christine D; Buys, Saundra S; McCarty, Catherine A; Feigelson, Heather Spencer; Calle, Eugenia E; Thun, Michael J; Hayes, Richard B; Tucker, Margaret; Gerhard, Daniela S; Fraumeni, Joseph F; Hoover, Robert N; Thomas, Gilles; Chanock, Stephen J; Yeager, Meredith; Chatterjee, Nilanjan; Ciampa, Julia; Jacobs, Kevin B; Gonzalez-Bosquet, Jesus; Hayes, Richard B; Kraft, Peter; Wacholder, Sholom; Orr, Nick; Berndt, Sonja; Yu, Kai; Hutchinson, Amy; Wang, Zhaoming; Amundadottir, Laufey; Feigelson, Heather Spencer; Thun, Michael J; Diver, W Ryan; Albanes, Demetrius; Virtamo, Jarmo; Weinstein, Stephanie; Schumacher, Fredrick R; Cancel-Tassin, Geraldine; Cussenot, Olivier; Valeri, Antoine; Andriole, Gerald L; Crawford, E David; Haiman, Christopher A; Henderson, Brian; Kolonel, Laurence; Marchand, Loic Le; Siddiq, Afshan; Riboli, Elio; Key, Timothy J; Kaaks, Rudolf; Isaacs, William; Isaacs, Sarah; Wiley, Kathleen E; Gronberg, Henrik; Wiklund, Fredrik; Stattin, Pär; Xu, Jianfeng; Zheng, S Lilly; Sun, Jielin; Vatten, Lars J; Hveem, Kristian; Kumle, Merethe; Tucker, Margaret; Gerhard, Daniela S; Hoover, Robert N; Fraumeni, Joseph F; Hunter, David J; Thomas, Gilles; Chanock, Stephen J; Purdue, Mark P; Johansson, Mattias; Zelenika, Diana; Toro, Jorge R; Scelo, Ghislaine; Moore, Lee E; Prokhortchouk, Egor; Wu, Xifeng; Kiemeney, Lambertus A; Gaborieau, Valerie; Jacobs, Kevin B; Chow, Wong-Ho; Zaridze, David; Matveev, Vsevolod; Lubinski, Jan; Trubicka, Joanna; Szeszenia-Dabrowska, Neonila; Lissowska, Jolanta; Rudnai, Péter; Fabianova, Eleonora; Bucur, Alexandru; Bencko, Vladimir; Foretova, Lenka; Janout, Vladimir; Boffetta, Paolo; Colt, Joanne S; Davis, Faith G; Schwartz, Kendra L; Banks, Rosamonde E; Selby, Peter J; Harnden, Patricia; Berg, Christine D; Hsing, Ann W; Grubb III, Robert L; Boeing, Heiner; Vineis, Paolo; Clavel-Chapelon, Françoise; Palli, Domenico; Tumino, Rosario; Krogh, Vittorio; Panico, Salvatore; Duell, Eric J; Quirós, José Ramón; Sanchez, Maria-José; Navarro, Carmen; Ardanaz, Eva; Dorronsoro, Miren; Khaw, Kay-Tee; Allen, Naomi E; Bueno-de-Mesquita, H Bas; Peeters, Petra H M; Trichopoulos, Dimitrios; Linseisen, Jakob; Ljungberg, Börje; Overvad, Kim; Tjønneland, Anne; Romieu, Isabelle; Riboli, Elio; Mukeria, Anush; Shangina, Oxana; Stevens, Victoria L; Thun, Michael J; Diver, W Ryan; Gapstur, Susan M; Pharoah, Paul D; Easton, Douglas F; Albanes, Demetrius; Weinstein, Stephanie J; Virtamo, Jarmo; Vatten, Lars; Hveem, Kristian; Njølstad, Inger; Tell, Grethe S; Stoltenberg, Camilla; Kumar, Rajiv; Koppova, Kvetoslava; Cussenot, Olivier; Benhamou, Simone; Oosterwijk, Egbert; Vermeulen, Sita H; Aben, Katja K H; van der Marel, Saskia L; Ye, Yuanqing; Wood, Christopher G; Pu, Xia; Mazur, Alexander M; Boulygina, Eugenia S; Chekanov, Nikolai N; Foglio, Mario; Lechner, Doris; Gut, Ivo; Heath, Simon; Blanche, Hélène; Hutchinson, Amy; Thomas, Gilles; Wang, Zhaoming; Yeager, Meredith; Fraumeni, Joseph F; Skryabin, Konstantin G; McKay, James D; Rothman, Nathaniel; Chanock, Stephen J; Lathrop, Mark; Brennan, Paul; Saunders, Brian; Thomas, Huw; Clark, Sue; Tomlinson, Ian

    2015-01-01

    The presence of multiple (5–100) colorectal adenomas suggests an inherited predisposition, but the genetic aetiology of this phenotype is undetermined if patients test negative for Mendelian polyposis syndromes such as familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). We investigated whether 18 common colorectal cancer (CRC) predisposition single-nucleotide polymorphisms (SNPs) could help to explain some cases with multiple adenomas who phenocopied FAP or MAP, but had no pathogenic APC or MUTYH variant. No multiple adenoma case had an outlying number of CRC SNP risk alleles, but multiple adenoma patients did have a significantly higher number of risk alleles than population controls (P=5.7 × 10−7). The association was stronger in those with ≥10 adenomas. The CRC SNPs accounted for 4.3% of the variation in multiple adenoma risk, with three SNPs (rs6983267, rs10795668, rs3802842) explaining 3.0% of the variation. In FAP patients, the CRC risk score did not differ significantly from the controls, as we expected given the overwhelming effect of pathogenic germline APC variants on the phenotype of these cases. More unexpectedly, we found no evidence that the CRC SNPs act as modifier genes for the number of colorectal adenomas in FAP patients. In conclusion, common colorectal tumour risk alleles contribute to the development of multiple adenomas in patients without pathogenic germline APC or MUTYH variants. This phenotype may have ‘polygenic' or monogenic origins. The risk of CRC in relatives of multiple adenoma cases is probably much lower for cases with polygenic disease, and this should be taken into account when counselling such patients. PMID:24801760

  12. A specific, transmembrane interface regulates fibroblast activation protein (FAP) homodimerization, trafficking and exopeptidase activity.

    Science.gov (United States)

    Wonganu, Benjamaporn; Berger, Bryan W

    2016-08-01

    Fibroblast activation protein (FAP) is a cell-surface serine protease which promotes invasiveness of certain epithelial cancers and is therefore a potential target for cancer drug development and delivery. Unlike dipeptidyl peptidase IV (DPPIV), FAP exhibits prolyl endopeptidase activity and is active as a homodimer with specificity for type I collagen. The mechanism that regulates FAP homodimerization and its relation to prolyl endopeptidase activity is not completely understood. Here, we investigate key residues in the FAP TM domain that may be significant for FAP homodimerization. Mutations to predicted TM interfacial residues (G10L, S14L, and A18L) comprising a small-X3-small motif reduced FAP TM-CYTO dimerization relative to wild type as measured using the AraTM assay, whereas predicted off-interface residues showed no significant change from wild type. The results implied that the predicted small-X3-small dimer interface affect stabilization of FAP TM-CYTO homodimerization. Compared with FAPwild-type, the interfacial TM residue G10L significantly decreased FAP endopeptidase activity more than 25%, and also reduced cell-surface versus intracellular expression relative to other interfacial residues S14L and A18L. Thus, our results suggest FAP dimerization is important for both trafficking and protease activity, and is dependent on a specific TM interface. PMID:27155568

  13. Dataset on FAP-induced emergence of spontaneous metastases and on the preparation of activatable FAP-targeting immunoliposomes to detect the metastases.

    Science.gov (United States)

    Tansi, Felista L; Rüger, Ronny; Böhm, Claudia; Kontermann, Roland E; Teichgraeber, Ulf K; Fahr, Alfred; Hilger, Ingrid

    2016-12-01

    The underlying data demonstrates that fibroblast activation protein (FAP) paves the way for fibrosarcoma cells, which require the proteolysis of the extracellular matrix (ECM) and basement membranes to intravasate from implanted subcutaneous primary tumors into blood vessels, be transported to distant organs where they extravasate from the blood vessels, reattach and proliferate to metastases. The data additionally shows that FAP, when overexpressed on fibrosarcoma cells induces their invasion and formation of spontaneous metastases in multiple organs, particularly after subcutaneous co-implantation of the FAP-expressing and wildtype fibrosarcoma. The raw and processed data presented herein is related to a research article entitled "Potential of activatable FAP-targeting immunoliposomes in intraoperative imaging of spontaneous metastases" (F.L. Tansi, R. Rüger, C. Böhm, R.E. Kontermann, U.K. Teichgraeber, A. Fahr, I. Hilger, 2016) [1]. Furthermore, evidence for the detection of FAP-expressing tumor cells and cells of the tumor stroma by activatable FAP-targeting liposomes is presented in this dataset.

  14. WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia.

    Science.gov (United States)

    Patel-King, Ramila S; Gilberti, Renée M; Hom, Erik F Y; King, Stephen M

    2013-09-01

    Retrograde intraflagellar transport (IFT) is required for assembly of cilia. We identify a Chlamydomonas flagellar protein (flagellar-associated protein 163 [FAP163]) as being closely related to the D1bIC(FAP133) intermediate chain (IC) of the dynein that powers this movement. Biochemical analysis revealed that FAP163 is present in the flagellar matrix and is actively trafficked by IFT. Furthermore, FAP163 copurified with D1bIC(FAP133) and the LC8 dynein light chain, indicating that it is an integral component of the retrograde IFT dynein. To assess the functional role of FAP163, we generated an RNA interference knockdown of the orthologous protein (WD60) in planaria. The Smed-wd60(RNAi) animals had a severe ciliary assembly defect that dramatically compromised whole-organism motility. Most cilia were present as short stubs that had accumulated large quantities of IFT particle-like material between the doublet microtubules and the membrane. The few remaining approximately full-length cilia had a chaotic beat with a frequency reduced from 24 to ∼10 Hz. Thus WD60/FAP163 is a dynein IC that is absolutely required for retrograde IFT and ciliary assembly. PMID:23864713

  15. WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia

    Science.gov (United States)

    Patel-King, Ramila S.; Gilberti, Renée M.; Hom, Erik F. Y.; King, Stephen M.

    2013-01-01

    Retrograde intraflagellar transport (IFT) is required for assembly of cilia. We identify a Chlamydomonas flagellar protein (flagellar-associated protein 163 [FAP163]) as being closely related to the D1bIC(FAP133) intermediate chain (IC) of the dynein that powers this movement. Biochemical analysis revealed that FAP163 is present in the flagellar matrix and is actively trafficked by IFT. Furthermore, FAP163 copurified with D1bIC(FAP133) and the LC8 dynein light chain, indicating that it is an integral component of the retrograde IFT dynein. To assess the functional role of FAP163, we generated an RNA interference knockdown of the orthologous protein (WD60) in planaria. The Smed-wd60(RNAi) animals had a severe ciliary assembly defect that dramatically compromised whole-organism motility. Most cilia were present as short stubs that had accumulated large quantities of IFT particle–like material between the doublet microtubules and the membrane. The few remaining approximately full-length cilia had a chaotic beat with a frequency reduced from 24 to ∼10 Hz. Thus WD60/FAP163 is a dynein IC that is absolutely required for retrograde IFT and ciliary assembly. PMID:23864713

  16. 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

  17. [Perioperative management for liver transplant in a patient with familial amyloid polyneuropathy with heart involvement].

    Science.gov (United States)

    López-Herrera Rodríguez, D; Guerrero Domínguez, R; Mellado Miras, P; Gómez Sosa, L

    2015-01-01

    Familial amyloid polyneuropathy (FAP) is a systemic amyloidosis caused by mutated transthyretin. Cardiac amyloidosis, the major prognostic determinant in systemic amyloidosis, is characterized by infiltration of the myocardium, leading to cardiomyopathy and conduction disturbances. Liver transplantation is the only curative option for patients with FAP. The case is presented of a 36-year-old patient with type i FAP with cardiac involvement, proposed for liver transplant surgery, which was successfully performed without any preoperative event of interest. PMID:24742789

  18. Expression of Fap amyloids in Pseudomonas aeruginosa, P. fluorescens, and P. putida results in aggregation and increased biofilm formation

    DEFF Research Database (Denmark)

    Dueholm, Morten S.; Søndergaard, Mads T; Nilsson, Martin;

    2013-01-01

    The fap operon, encoding functional amyloids in Pseudomonas (Fap), is present in most pseudomonads, but so far the expression and importance for biofilm formation has only been investigated for P. fluorescens strain UK4. In this study, we demonstrate the capacity of P. aeruginosa PAO1, P. fluorescens...... Pf-5, and P. putida F1 to express Fap fibrils, and investigated the effect of Fap expression on aggregation and biofilm formation. The fap operon in all three Pseudomonas species conferred the ability to express Fap fibrils as shown using a recombinant approach. This Fap overexpression consistently...

  19. Thyroid, Renal, and Breast Carcinomas, Chondrosarcoma, Colon Adenomas, and Ganglioneuroma: A New Cancer Syndrome, FAP, or Just Coincidence

    Directory of Open Access Journals (Sweden)

    Ihab Shafek Atta

    2016-01-01

    Full Text Available We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively. Additionally, we included a table with the most common familial cancer syndromes with one or more benign or malignant tumors diagnosed in our case, namely, FAP, HNPCC, Cowden, Peutz-Jeghers, renal cancer, tuberous sclerosis, VHL, breast/other, breast/ovarian, Carney, Werner’s, Bloom, Li-Fraumeni, xeroderma pigmentosum, ataxia-telangiectasia, osteochondromatosis, retinoblastoma, and MEN2A.

  20. Thyroid, Renal, and Breast Carcinomas, Chondrosarcoma, Colon Adenomas, and Ganglioneuroma: A New Cancer Syndrome, FAP, or Just Coincidence.

    Science.gov (United States)

    Atta, Ihab Shafek; AlQahtani, Fahd Nasser

    2016-01-01

    We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively. Additionally, we included a table with the most common familial cancer syndromes with one or more benign or malignant tumors diagnosed in our case, namely, FAP, HNPCC, Cowden, Peutz-Jeghers, renal cancer, tuberous sclerosis, VHL, breast/other, breast/ovarian, Carney, Werner's, Bloom, Li-Fraumeni, xeroderma pigmentosum, ataxia-telangiectasia, osteochondromatosis, retinoblastoma, and MEN2A. PMID:27087812

  1. Selective Inhibitors of Fibroblast Activation Protein (FAP) with a (4-Quinolinoyl)-glycyl-2-cyanopyrrolidine Scaffold.

    Science.gov (United States)

    Jansen, Koen; Heirbaut, Leen; Cheng, Jonathan D; Joossens, Jurgen; Ryabtsova, Oxana; Cos, Paul; Maes, Louis; Lambeir, Anne-Marie; De Meester, Ingrid; Augustyns, Koen; Van der Veken, Pieter

    2013-05-01

    Fibroblast activation protein (FAP) is a serine protease that is generally accepted to play an important role in tumor growth and other diseases involving tissue remodeling. Currently there are no FAP inhibitors with reported selectivity toward both the closely related dipeptidyl peptidases (DPPs) and prolyl oligopeptidase (PREP). We present the discovery of a new class of FAP inhibitors with a N-(4-quinolinoyl)-Gly-(2-cyanopyrrolidine) scaffold. We have explored the effects of substituting the quinoline ring and varying the position of its sp(2) hybridized nitrogen atom. The most promising inhibitors combined low nanomolar FAP inhibition and high selectivity indices (>10(3)) with respect to both the DPPs and PREP. Preliminary experiments on a representative inhibitor demonstrate that plasma stability, kinetic solubility, and log D of this class of compounds can be expected to be satisfactory. PMID:24900696

  2. Familial amyloidotic polyneuropathy with severe renal involvement in association with transthyretin Gly47Glu in Dutch, British and American-Finnish families

    NARCIS (Netherlands)

    Haagsma, EB; Hawkins, PN; Benson, MD; Lachmann, HJ; Bybee, A; Hazenberg, BPC

    2004-01-01

    Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant disorder associated with more than 80 different transthyretin (TTR) mutations. The clinical features of FAP are broad and variable, but knowledge of the pattern and natural history of disease associated with particular mutations neve

  3. Clinical analysis of eight kindreds of familial adenomatous polyposis

    Institute of Scientific and Technical Information of China (English)

    Yu-Long He; Chang-Hua Zhang; Mei-Jin Huang; Shi-Rong Cai; Wen-Hua Zhan; Jian-Ping Wang; Ji-Fu Wang

    2004-01-01

    AIM: To study the early diagnosis and management of familial adenomatous polyposis (FAP).METHODS: Eight pedigrees of FAP were collected and their pedigree trees were protracted. Clinical characteristics and treatment outcomes of FAP patients in these kindreds were analysed.RESULTS: A total of 157 members were investigated in eight kindreds and 25 patients with FAP were diagnosed.The ratio of male patients and female patients was 16:9and the average age at onset was 38 years. Among them,six patients died of cancer with a mortality rate of 28%,and 36% (9/25) FAP patients were diagnosed as synchronous colorectal cancer on the basis of FAP.A proband was diagnosed as synchronous colorectal cancer with liver metastasis and died 11 mo later after partial colectomy and hepatic metastatic lesion biopsy. The other seven probands received total abdominal colectomy and rectal mucosectomy with ileal pouch-anal anastomosis (IPAA), and one of them was diagnosed as synchronous colon cancer on the basis of FAP and was still alive after 7.5 years follow-up. Among the other seven patients with synchronous colorectal cancer on the basis of FAP underwent total abdominal colectomy with ileorectal anastomosis (IRA), one underwent total remnant rectum resection and ileostomy for recurrent carcinoma in the retained rectum 2.5 years later after the IRA and was still alive, while the others all died of recurrence with a median survival time of 4.6 years. Through close follow-up and termly endoscopic surveillance, three FAP patients were detected before presenting symptoms at the age of 18, 20 and 23 years, respectively. Prophylactic IPAA was performed and results were satisfactory after the patients were followed-up for 6, 1, and 8 years, respectively.CONCLUSION: Pedigree investigation, close follow-up and termly endoscopic surveillance are very important for early detection of FAP. Prophylactic IPAA can give satisfactory results to FAP patients.

  4. Fibroblast activation protein (FAP is essential for the migration of bone marrow mesenchymal stem cells through RhoA activation.

    Directory of Open Access Journals (Sweden)

    Kuei-Min Chung

    Full Text Available BACKGROUND: The ability of human bone marrow mesenchymal stem cells (BM-MSCs to migrate and localize specifically to injured tissues is central in developing therapeutic strategies for tissue repair and regeneration. Fibroblast activation protein (FAP is a cell surface serine protease expressed at sites of tissue remodeling during embryonic development. It is also expressed in BM-MSCs, but not in normal tissues or cells. The function of FAP in BM-MSCs is not known. PRINCIPAL FINDINGS: We found that depletion of FAP proteins significantly inhibited the migration of BM-MSCs in a transwell chemotaxis assay. Such impaired migration ability of BM-MSCs could be rescued by re-expressing FAP in these cells. We then demonstrated that depletion of FAP activated intracellular RhoA GTPase. Consistently, inhibition of RhoA activity using a RhoA inhibitor rescued its migration ability. Inhibition of FAP activity with an FAP-specific inhibitor did not affect the activation of RhoA or the migration of BM-MSCs. Furthermore, the inflammatory cytokines interleukin-1beta (IL-1β and transforming growth factor-beta (TGF-β upregulated FAP expression, which coincided with better BM-MSC migration. CONCLUSIONS: Our results indicate FAP plays an important role in the migration of BM-MSCs through modulation of RhoA GTPase activity. The peptidase activity of FAP is not essential for such migration. Cytokines IL-1β and TGF-β upregulate the expression level of FAP and thus enhance BM-MSC migration.

  5. Role of FAP-1 in apoptosis of human salivary gland cells inducted by 5-azacytidine%FAP-1在5-azaC诱导的HSG细胞凋亡中的作用

    Institute of Scientific and Technical Information of China (English)

    白忠诚; 司徒镇强; 李莉莉; 张艳茹; 施生根

    2009-01-01

    目的 体外研究FAP-1在5-氮胞苷(5-azacytidine,5-azaC)诱导的HSG(human salivary gland,HSG,人涎腺导管细胞,起源于人颌下腺闰管细胞)细胞凋亡中的作用,为应用5-azaC对涎腺肿瘤进行治疗奠定理论和实验基础.方法 HSG细胞转染FAP-1反义寡核苷酸前后分别用5-azaC处理,观察转染前后FAP-1表达的变化,同时观察5-azaC对转染前后细胞凋亡作用是否发生变化.结果 在形态上转染后的细胞与转染前无明显区别,转染FAP-1反义寡核苷酸链的HSG细胞FAP-1表达较转染前减弱,转染后HSG细胞对5-azaC比转染前敏感,加入5umol/L 5-azaC后,凋亡细胞数增加.结论 FAP-1在5-azaC诱导的HSG细胞凋亡中起一定作用.%Objective To investigate the role of FAP-1 in apoptosis of human salivary gland cells (HSG) inducted by 5-azacytidine (5-azaC) .Methods HSG cells transfected by FAP-1 antisense oligonucleotides were treated with 5-azaC. The morphology of HSG and expression of FAP-1 was then examined.Results The configuration of HSG cells did not change after transfected by FAP-1 antisense oligonucleotides, compared with HSG cells that not transfected by. The expression of FAP-1 was knock-down after transfected by FAP-1 antisense oligonucleotides. More HSG cells underwent apoptosis when 5umol/L 5-azaC was added after transfected by FAP-1 antisense oligonucleotide.Conclusion FAP-1 play an important role in the apoptosis effect of 5-azaC on HSG cell in vitro.

  6. First Steps in FAP: Experiences of Beginning Functional Analytic Psychotherapy Therapist with an Obsessive-Compulsive Personality Disorder Client

    Science.gov (United States)

    Manduchi, Katia; Schoendorff, Benjamin

    2012-01-01

    Practicing Functional Analytic Psychotherapy (FAP) for the first time can seem daunting to therapists. Establishing a deep and intense therapeutic relationship, identifying FAP's therapeutic targets of clinically relevant behaviors, and using contingent reinforcement to help clients emit more functional behavior in the therapeutic relationship all…

  7. Potential of activatable FAP-targeting immunoliposomes in intraoperative imaging of spontaneous metastases.

    Science.gov (United States)

    Tansi, Felista L; Rüger, Ronny; Böhm, Claudia; Kontermann, Roland E; Teichgraeber, Ulf K; Fahr, Alfred; Hilger, Ingrid

    2016-05-01

    Despite intensive research and medical advances met, metastatic disease remains the most common cause of death in cancer patients. This results from late diagnosis, poor therapeutic response and undetected micrometastases and tumor margins during surgery. One approach to overcome these challenges involves fluorescence imaging, which exploits the properties of fluorescent probes for diagnostic detection of molecular structures at the onset of transformation and for intraoperative detection of metastases and tumor margins in real time. Considering these benefits, many contrast agents suitable for fluorescence imaging have been reported. However, most reports only demonstrate the detection of primary tumors and not the detection of metastases or their application in models of image-guided surgery. In this work, we demonstrate the influence of fibroblast activation protein (FAP) on the metastatic potential of fibrosarcoma cells and elucidate the efficacy of activatable FAP-targeting immunoliposomes (FAP-IL) for image-guided detection of the spontaneous metastases in mice models. Furthermore, we characterized the biodistribution and cellular localization of the liposomal fluorescent components in mice organs and traced their excretion over time in urine and feces. Taken together, activatable FAP-IL enhances intraoperative imaging of metastases. Their high accumulation in metastases, subsequent localization in the bile canaliculi and liver kupffer cells and suitable excretion in feces substantiates their potency as contrast agents for intraoperative imaging.

  8. The Pic19 NBS-LRR gene family members are closely linked to Scmv1, but not involved in maize resistance to sugarcane mosaic virus

    DEFF Research Database (Denmark)

    Jiang, Lu; Ingvardsen, Christina Rønn; Lübberstedt, Thomas;

    2008-01-01

    the isolation and characterization of the Pic19R gene family members from the inbred line FAP1360A, which shows complete resistance to SCMV. Two primer pairs were designed based on the conserved regions among the known Pic19 paralogs and used for rapid amplification of cDNA ends of FAP1360A. Six full-length c...

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

    NARCIS (Netherlands)

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

    2011-01-01

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

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

    NARCIS (Netherlands)

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

    2009-01-01

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

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

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

    Science.gov (United States)

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

    2011-07-01

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

  13. Bispecific single-chain diabody-immunoliposomes targeting endoglin (CD105) and fibroblast activation protein (FAP) simultaneously.

    Science.gov (United States)

    Rabenhold, Markus; Steiniger, Frank; Fahr, Alfred; Kontermann, Roland E; Rüger, Ronny

    2015-03-10

    Liposomes are well-established drug delivery systems with cancer chemotherapy as main focus. To increase the cellular drug delivery, liposomes can be endowed with ligands, e.g. recombinant antibody fragments, which ensure specific cell interaction. Multispecific immunoliposomes can be prepared to improve the liposome to cell interaction by targeting multiple different targets at the same time, for instance by coupling two or more different ligands to the liposomal surface, resulting in a synergistic or additive increase in binding. An alternative approach is the use of bispecific ligands to address at least two different targets. For this purpose we cloned a single-chain diabody fragment (scDb`), a bispecific molecule targeting two antigens, endoglin (CD105) and fibroblast activation protein (FAP), expressed on cells of the tumor microenvironment. As model cell system, a human fibrosarcoma cell line was used expressing endoglin and FAP simultaneously. Monospecific immunoliposomes directed either against endoglin or FAP were compared in vitro for cell binding and cytotoxic activity with bispecific dual-targeted scFv`-IL (bispecific scFv`FAP/CD105-IL) and bispecific single-chain diabody`-IL (scDb`CD105/FAP-IL) targeting endoglin and FAP simultaneously. In the underlying study, bispecific scFv`FAP/CD105-IL interacted stronger with cells expressing FAP and endoglin (both targets simultaneously) compared to the monospecific immunoliposomes. Furthermore, bispecific scDb`-immunoliposomes increased the cell interaction massively and showed enhanced cytotoxicity against target cells using doxorubicin-loaded immunoliposomes. The use of recombinant bispecific ligands as scDb`-molecules facilitates the generation of bispecific immunoliposomes by using the established post-insertion technique, enabling an extension of the ligand specificity spectrum via genetic modification.

  14. Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy.

    Science.gov (United States)

    Schmidt, Hartmut H-J; Barroso, Fabio; González-Duarte, Alejandra; Conceição, Isabel; Obici, Laura; Keohane, Denis; Amass, Leslie

    2016-09-01

    Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, severe, and irreversible, adult-onset, hereditary disorder caused by autosomal-dominant mutations in the TTR gene that increase the intrinsic propensity of transthyretin protein to misfold and deposit systemically as insoluble amyloid fibrils in nerve tissues, the heart, and other organs. TTR-FAP is characterized by relentless, progressively debilitating polyneuropathy, and leads to death, on average, within 10 years of symptom onset without treatment. With increased availability of disease-modifying treatment options for a wider spectrum of patients with TTR-FAP, timely detection of the disease may offer substantial clinical benefits. This review discusses mutation-specific predictive genetic testing in first-degree relatives of index patients diagnosed with TTR-FAP and the structured clinical follow-up of asymptomatic gene carriers for prompt diagnosis and early therapeutic intervention before accumulation of substantial damage. Muscle Nerve 54: 353-360, 2016.

  15. Familial adenomatous polyposis.

    Science.gov (United States)

    Half, Elizabeth; Bercovich, Dani; Rozen, Paul

    2009-01-01

    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 suggestive family history

  16. 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

  17. Fap2 Mediates Fusobacterium nucleatum Colorectal Adenocarcinoma Enrichment by Binding to Tumor-Expressed Gal-GalNAc.

    Science.gov (United States)

    Abed, Jawad; Emgård, Johanna E M; Zamir, Gideon; Faroja, Mouhammad; Almogy, Gideon; Grenov, Amalie; Sol, Asaf; Naor, Ronit; Pikarsky, Eli; Atlan, Karine A; Mellul, Anna; Chaushu, Stella; Manson, Abigail L; Earl, Ashlee M; Ou, Nora; Brennan, Caitlin A; Garrett, Wendy S; Bachrach, Gilad

    2016-08-10

    Fusobacterium nucleatum is associated with colorectal cancer and promotes colonic tumor formation in preclinical models. However, fusobacteria are core members of the human oral microbiome and less prevalent in the healthy gut, raising questions about how fusobacteria localize to CRC. We identify a host polysaccharide and fusobacterial lectin that explicates fusobacteria abundance in CRC. Gal-GalNAc, which is overexpressed in CRC, is recognized by fusobacterial Fap2, which functions as a Gal-GalNAc lectin. F. nucleatum binding to clinical adenocarcinomas correlates with Gal-GalNAc expression and is reduced upon O-glycanase treatment. Clinical fusobacteria strains naturally lacking Fap2 or inactivated Fap2 mutants show reduced binding to Gal-GalNAc-expressing CRC cells and established CRCs in mice. Additionally, intravenously injected F. nucleatum localizes to mouse tumor tissues in a Fap2-dependent manner, suggesting that fusobacteria use a hematogenous route to reach colon adenocarcinomas. Thus, targeting F. nucleatum Fap2 or host epithelial Gal-GalNAc may reduce fusobacteria potentiation of CRC.

  18. Fap2 Mediates Fusobacterium nucleatum Colorectal Adenocarcinoma Enrichment by Binding to Tumor-Expressed Gal-GalNAc.

    Science.gov (United States)

    Abed, Jawad; Emgård, Johanna E M; Zamir, Gideon; Faroja, Mouhammad; Almogy, Gideon; Grenov, Amalie; Sol, Asaf; Naor, Ronit; Pikarsky, Eli; Atlan, Karine A; Mellul, Anna; Chaushu, Stella; Manson, Abigail L; Earl, Ashlee M; Ou, Nora; Brennan, Caitlin A; Garrett, Wendy S; Bachrach, Gilad

    2016-08-10

    Fusobacterium nucleatum is associated with colorectal cancer and promotes colonic tumor formation in preclinical models. However, fusobacteria are core members of the human oral microbiome and less prevalent in the healthy gut, raising questions about how fusobacteria localize to CRC. We identify a host polysaccharide and fusobacterial lectin that explicates fusobacteria abundance in CRC. Gal-GalNAc, which is overexpressed in CRC, is recognized by fusobacterial Fap2, which functions as a Gal-GalNAc lectin. F. nucleatum binding to clinical adenocarcinomas correlates with Gal-GalNAc expression and is reduced upon O-glycanase treatment. Clinical fusobacteria strains naturally lacking Fap2 or inactivated Fap2 mutants show reduced binding to Gal-GalNAc-expressing CRC cells and established CRCs in mice. Additionally, intravenously injected F. nucleatum localizes to mouse tumor tissues in a Fap2-dependent manner, suggesting that fusobacteria use a hematogenous route to reach colon adenocarcinomas. Thus, targeting F. nucleatum Fap2 or host epithelial Gal-GalNAc may reduce fusobacteria potentiation of CRC. PMID:27512904

  19. 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.

  20. 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.

  1. "Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy.

    Science.gov (United States)

    Conceição, Isabel; González-Duarte, Alejandra; Obici, Laura; Schmidt, Hartmut H-J; Simoneau, Damien; Ong, Moh-Lim; Amass, Leslie

    2016-03-01

    Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, progressive, life-threatening, hereditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin-derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR-FAP is frequently diagnosed late because the disease is difficult to recognize due to phenotypic heterogeneity. Based on published literature and expert opinion, symptom clusters suggesting TTR-FAP are reviewed, and practical guidance to facilitate earlier diagnosis is provided. TTR-FAP should be suspected if progressive peripheral sensory-motor neuropathy is observed in combination with one or more of the following: family history of a neuropathy, autonomic dysfunction, cardiac hypertrophy, gastrointestinal problems, inexplicable weight loss, carpal tunnel syndrome, renal impairment, or ocular involvement. If TTR-FAP is suspected, transthyretin genotyping, confirmation of amyloid in tissue biopsy, large- and small-fiber assessment by nerve conduction studies and autonomic system evaluations, and cardiac testing should be performed. PMID:26663427

  2. Leanness na manutenção aeronáutica: o caso FAP

    OpenAIRE

    Ribeiro, Sandra Daniela Martins

    2011-01-01

    Os sistemas de armas da Força Aérea Portuguesa (FAP) têm por missão a defesa militar de Portugal, através de operações aéreas e da defesa do espaço aéreo nacional, sendo o F-16 o principal avião de ataque em uso nesta organização. Neste sentido, e tendo em conta o actual contexto económico mundial, as organizações devem rentabilizar todos os recursos disponíveis, custos associados e optimizar processos de trabalho. Tendo por base os pressupostos anteriores, o presente estudo...

  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

    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....

  4. Detection of familial adenomatous polyposis with polarized spectroscopic imaging and oral vascular density

    Science.gov (United States)

    Basiri, Ali; Edelstein, Daniel L.; Giardiello, Francis M.; Ramella-Roman, J. C.

    2011-03-01

    Familial Adenomatous Polyposis (FAP) is an autosomal dominant disease characterized by the development of multiple colonic polyps at younger age with a near 100% lifetime risk of colorectal cancer in later years. The determination of FAP is made after extensive clinical evaluation and genetic testing of at risk individuals. Genetic testing is expensive and in some cases deleterious mutations are not found in all patients with a clinical diagnosis of FAP. As such, the early identification of affected individuals could substantially eliminate associated morbidity and mortality. We investigated a novel spectro-polarimetric imaging system to capture images of the oral mucosa at different wavelengths in an attempt to distinguish patients with FAP from controls. Total diffused oral mucosal reflectance (OMR) and oral mucosal vascular density (OMVD) were calculated from spectral data collected from 33 patients with gene positive FAP, 5 patients who tested negative for FAP, and 45 controls. A statistically significant difference in OMVD (p Analysis of OMR showed no significant difference between the two subject groups.

  5. Trophic relationships at intrannual spatial and temporal scales of macro and megafauna around a submarine canyon off the Catalonian coast (western Mediterranean)

    Science.gov (United States)

    Cartes, Joan E.; Fanelli, Emanuela; Papiol, Vanesa; Maynou, Francesc

    2010-04-01

    The spatial and temporal changes of near-bottom macrofauna (suprabenthos and macroplankton) and the trophic relationships of megabenthic decapod crustaceans were analyzed off the Catalonian coasts (western Mediterranean) around Berenguera submarine canyon in four periods (April and December 1991, March and July 1992) and four zones (within Berenguera Canyon at ca. 450 m, and on adjacent slope at ca. 400, 600 m and 1200 m). In March 1992, we found the highest macrofauna abundance and the smallest sizes in the canyon, suggesting a positive effect of river discharges on suprabenthos recruitment. By contrast, macroplankton (decapods, fishes and euphausiids) did not show higher recruitment into canyons. After analyzing the diet of 23 decapod crustaceans, we found a significant segregation between guilds feeding on zooplankton and on benthos. Zooplankton (euphausiids and Pasiphaeidae) and infauna (polychaetes, Calocaris macandreae and ophiuoroids) were consistently the main prey exploited by decapod crustaceans around Berenguera Canyon. We also found some macrophyte ( Posidonia oceanica) consumption, which was higher in periods of water column homogeneity (winter-spring and late autumn). Positive correlations between decapods' gut fullness ( F) and decapod abundance indicate feeding aggregations, while positive correlations were also found between F and Llobregat River (situated ca. 18 km from Berenguera head) flow 1 to 2 months before sampling. Increases in F were delayed only 1 month when zooplankton feeders were analyzed alone, while benthos feeders did not show significant relationships with any environmental variables. That indicates that the response of megabenthic decapods feeding on benthos to environmental shifts is slower than that of zooplankton feeders. The importance of river flows in enhancing food supply of macro- and megabenthos dwelling close to submarine canyons was apparent, with a delay in the fauna response of 0-2 months after river flow peaks.

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

    DEFF Research Database (Denmark)

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

    2004-01-01

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

  7. Crystallization and initial crystallographic analysis of the Streptococcus parasanguinis FW213 Fap1-­NRα adhesive domain at pH 5.0

    OpenAIRE

    Garnett, James A; Ramboarina, Stéphanie; Lee, Wei-chao; Tagliaferri, Camille; Wu, Wilfred; MATTHEWS, STEPHEN

    2011-01-01

    The adhesin fimbriae-associated protein 1 (Fap1) is a surface protein of Streptococcus parasanguinis FW213 and plays a major role in the formation of dental plaque in humans. Here, the adhesive domain Fap1-NRα, which is activated by acidic pH, has been crystallized at pH 5.0 and diffraction data have been collected to 3.0 Å resolution.

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

    DEFF Research Database (Denmark)

    Knudsen, Anne Louise; Bülow, Steffen

    2001-01-01

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

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

    OpenAIRE

    A. Fernández-Suárez; C. Cordero Fernández; R. García Lozano; Pizarro, A.; Garzón, M.; A. Núñez Roldán

    2005-01-01

    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 ...

  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

    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...

  11. 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

  12. Crystallization and initial crystallographic analysis of the Streptococcus parasanguinis FW213 Fap1-NRα adhesive domain at pH 5.0

    International Nuclear Information System (INIS)

    The adhesin fimbriae-associated protein 1 (Fap1) is a surface protein of Streptococcus parasanguinis FW213 and plays a major role in the formation of dental plaque in humans. Here, the adhesive domain Fap1-NRα, which is activated by acidic pH, has been crystallized at pH 5.0 and diffraction data have been collected to 3.0 Å resolution. The adhesin fimbriae-associated protein 1 (Fap1) is a surface protein of Streptococcus parasanguinis FW213 and plays a major role in the formation of dental plaque in humans. Increased adherence is highly correlated to a reduction in pH and acid activation has been mapped to a subdomain: Fap1-NRα. Here, Fap1-NRα has been crystallized at pH 5.0 and diffraction data have been collected to 3.0 Å resolution. The crystals belonged to space group P41212 or P43212, with unit-cell parameters a = b = 122.0, c = 117.8 Å. It was not possible to conclusively determine the number of molecules in the asymmetric unit and heavy-atom derivatives are now being prepared

  13. Ultrafast Torsional Relaxation of Thioflavin-T in Tris(pentafluoroethyl)trifluorophosphate (FAP) Anion-Based Ionic Liquids.

    Science.gov (United States)

    Singh, Prabhat K; Mora, Aruna K; Nath, Sukhendu

    2015-11-01

    Ultrafast spectroscopy on solutes, whose dynamics is very sensitive to the friction in its local environment, has strong potential to report on the microenvironment existing in complex fluids such as ionic liquids. In this work, the torsional relaxation dynamics of Thioflavin-T (ThT), an ultrafast molecular rotor, is investigated in two fluoroalkylphosphate ([FAP])-based ionic liquids, namely, 1-ethyl-3-methylimidazolium tris(pentafluoroethyl)trifluorophosphate ([EMIM][FAP]) and 1-(2-hydroxyethyl)-3-methylimidazolium tris(pentafluoroethyl)trifluorophosphate ([OHEMIM][FAP]), using ultrafast fluorescence up-conversion spectroscopy. The emission quantum yield and the excited-state fluorescence lifetime measurement suggest that the torsional relaxation of Thioflavin-T, in this class of ionic liquids, is guided by the viscosity of the medium. The temporal profile of the dynamic Stokes' shift of ThT, measured from time-resolved emission spectrum (TRES), displays a multiexponential behavior in both ionic liquids. The long time dynamics of the Stokes' shift is reasonably slower for the hydroxyethyl derivative as compared to the ethyl derivative, which is in accordance with their measured shear viscosity. However, the short time dynamics of Stokes' shift is very similar in both the ionic liquids, and seems to be independent of the measured shear viscosity of the ionic liquid. We rationalize these observations in terms of different locations of ThT in these ionic liquids. These results suggest that despite having a higher bulk viscosity in the ionic liquid, they can provide unique microenvironment in their complex structure, where the reaction can be faster than expected from their measured shear viscosity. PMID:26457972

  14. Ultrafast Torsional Relaxation of Thioflavin-T in Tris(pentafluoroethyl)trifluorophosphate (FAP) Anion-Based Ionic Liquids.

    Science.gov (United States)

    Singh, Prabhat K; Mora, Aruna K; Nath, Sukhendu

    2015-11-01

    Ultrafast spectroscopy on solutes, whose dynamics is very sensitive to the friction in its local environment, has strong potential to report on the microenvironment existing in complex fluids such as ionic liquids. In this work, the torsional relaxation dynamics of Thioflavin-T (ThT), an ultrafast molecular rotor, is investigated in two fluoroalkylphosphate ([FAP])-based ionic liquids, namely, 1-ethyl-3-methylimidazolium tris(pentafluoroethyl)trifluorophosphate ([EMIM][FAP]) and 1-(2-hydroxyethyl)-3-methylimidazolium tris(pentafluoroethyl)trifluorophosphate ([OHEMIM][FAP]), using ultrafast fluorescence up-conversion spectroscopy. The emission quantum yield and the excited-state fluorescence lifetime measurement suggest that the torsional relaxation of Thioflavin-T, in this class of ionic liquids, is guided by the viscosity of the medium. The temporal profile of the dynamic Stokes' shift of ThT, measured from time-resolved emission spectrum (TRES), displays a multiexponential behavior in both ionic liquids. The long time dynamics of the Stokes' shift is reasonably slower for the hydroxyethyl derivative as compared to the ethyl derivative, which is in accordance with their measured shear viscosity. However, the short time dynamics of Stokes' shift is very similar in both the ionic liquids, and seems to be independent of the measured shear viscosity of the ionic liquid. We rationalize these observations in terms of different locations of ThT in these ionic liquids. These results suggest that despite having a higher bulk viscosity in the ionic liquid, they can provide unique microenvironment in their complex structure, where the reaction can be faster than expected from their measured shear viscosity.

  15. 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...... to duodenal/periampullary cancer and desmoid tumours. The aim of this study was to examine the causes of death with special emphasis on duodenal/periampullary cancer....

  16. Laser damage initiation and growth of antireflection coated S-FAP crystal surfaces prepared by pitch lap and magnetorheological finishing

    Energy Technology Data Exchange (ETDEWEB)

    Stolz, C J; Menapace, J A; Schaffers, K I; Bibeau, C; Thomas, M D; Griffin, A J

    2005-10-31

    Antireflection (AR) coatings typically damage at the interface between the substrate and coating. Therefore the substrate finishing technology can have an impact on the laser resistance of the coating. For this study, AR coatings were deposited on Yb:S-FAP [Yb{sup 3+}:Sr{sub 5}(PO{sub 4}){sub 3}F] crystals that received a final polish by both conventional pitch lap finishing as well as magnetorheological finishing (MRF). SEM images of the damage morphology reveals laser damage originates at scratches and at substrate coating interfacial absorbing defects. Previous damage stability tests on multilayer mirror coatings and bare surfaces revealed damage growth can occur at fluences below the initiation fluence. The results from this study suggest the opposite trend for AR coatings. Investigation of unstable HR and uncoated surface damage morphologies reveals significant radial cracking that is not apparent with AR damage due to AR delamination from the coated surface with few apparent cracks at the damage boundary. Damage stability tests show that coated Yb:S-FAP crystals can operate at 1057 nm at fluences around 20 J/cm{sup 2} at 10 ns; almost twice the initiation damage threshold.

  17. Evaluation of Therapeutic Oligonucleotides for Familial Amyloid Polyneuropathy in Patient-Derived Hepatocyte-Like Cells.

    Science.gov (United States)

    Niemietz, Christoph J; Sauer, Vanessa; Stella, Jacqueline; Fleischhauer, Lutz; Chandhok, Gursimran; Guttmann, Sarah; Avsar, Yesim; Guo, Shuling; Ackermann, Elizabeth J; Gollob, Jared; Monia, Brett P; Zibert, Andree; Schmidt, Hartmut H-J

    2016-01-01

    Familial amyloid polyneuropathy (FAP) is caused by mutations of the transthyretin (TTR) gene, predominantly expressed in the liver. Two compounds that knockdown TTR, comprising a small interfering RNA (siRNA; ALN-TTR-02) and an antisense oligonucleotide (ASO; IONIS-TTRRx), are currently being evaluated in clinical trials. Since primary hepatocytes from FAP patients are rarely available for molecular analysis and commercial tissue culture cells or animal models lack the patient-specific genetic background, this study uses primary cells derived from urine of FAP patients. Urine-derived cells were reprogrammed to induced pluripotent stem cells (iPSCs) with high efficiency. Hepatocyte-like cells (HLCs) showing typical hepatic marker expression were obtained from iPSCs of the FAP patients. TTR mRNA expression of FAP HLCs almost reached levels measured in human hepatocytes. To assess TTR knockdown, siTTR1 and TTR-ASO were introduced to HLCs. A significant downregulation (>80%) of TTR mRNA was induced in the HLCs by both oligonucleotides. TTR protein present in the cell culture supernatant of HLCs was similarly downregulated. Gene expression of other hepatic markers was not affected by the therapeutic oligonucleotides. Our data indicate that urine cells (UCs) after reprogramming and hepatic differentiation represent excellent primary human target cells to assess the efficacy and specificity of novel compounds. PMID:27584576

  18. 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

  19. 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

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

    NARCIS (Netherlands)

    Brosens, L.A.A.

    2008-01-01

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

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

    NARCIS (Netherlands)

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

    2007-01-01

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

  2. Re-directed T cells for the treatment of fibroblast activation protein (FAP-positive malignant pleural mesothelioma (FAPME-1

    Directory of Open Access Journals (Sweden)

    Petrausch Ulf

    2012-12-01

    Full Text Available Abstract Background Asbestos is the main cause of MPM in industrialized countries. Even since asbestos is banned in most developed countries, the peak wave of MPM incidence is anticipated for the next years due to the long latency of asbestos induced MPM. MPM patients not eligible for surgical procedures like decortication or pleuro-pneumectomie have a median survival of 12 months with palliative chemotherapy. Therefore, new therapeutic approaches are of crucial need in this clinical situation. Methods/design This is a phase I trial for patients with malignant pleural mesothelioma with pleural effusion testing the safety of a fixed single dose of 1x106 adoptively transferred FAP-specific re-directed T cells given directly in the pleural effusion. Lymphocytes will be taken 21 days before transfer from peripheral blood. CD8 positive T cells will be isolated and re-programmed by retroviral transfer of a chimeric antigen receptor recognizing FAP which serves as target structure in MPM. At day 0 of the protocol, re-directed T cells will be injected in the pleural effusion and patients will be monitored for 48h under intermediate care conditions. AE, SAE, SADR and SUSAR will be monitored for 35 days and evaluated by an independent safety board to define any dose limiting toxicity (DLT. No further patient can be treated before the previous patient passed day 14 after T cell transfer. The protocol will be judged as save when no DLT occurred in the first 3 patients, or 1 DLT in 6 patients. Secondary objectives are feasibility and immune monitoring. Discussion Adoptive T cell transfer is a new and rapidly expanding branch of immunotherapies focusing on cancer treatment. Recently, objective responses could be observed in patients with chronic lymphatic leukemia treated with adoptively transferred CD19-specific re-directed T cells. The choice of the target antigen determines the possible on-target off-tissue toxicity of such approaches. There are reports of

  3. 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.

  4. Serum amyloid P component scintigraphy in familial amyloid polyneuropathy: regression of visceral amyloid following liver transplantation

    International Nuclear Information System (INIS)

    Familial amyloid polyneuropathy (FAP) associated with transthyretin (TTR) mutations is the commonest type of hereditary amyloidosis. Plasma TTR is produced almost exclusively in the liver and orthotopic liver transplantation is the only available treatment, although the clinical outcome varies. Serum amyloid P component (SAP) scintigraphy is a method for identifying and quantitatively monitoring amyloid deposits in vivo, but it has not previously been used to study the outcome of visceral amyloid deposits in FAP following liver transplantation. Whole body scintigraphy following injection of iodine-123 labelled SAP was performed in 17 patients with FAP associated with TTR Met30 and in five asymptomatic gene carriers. Follow-up studies were performed in ten patients, eight of whom had undergone orthotopic liver transplantation 1-5 years beforehand. There was abnormal uptake of 123I-SAP in all FAP patients, including the kidneys in each case, the spleen in five cases and the adrenal glands in three cases. Renal amyloid deposits were also present in three of the asymptomatic carriers. Follow-up studies 1-5 years after liver transplantation showed that there had been substantial regression of the visceral amyloid deposits in two patients and modest improvement in three cases. The amyloid deposits were unchanged in two patients. In conclusion, 123I-SAP scintigraphy identified unsuspected visceral amyloid in each patient with FAP due to TTR Met30. The universal presence of renal amyloid probably underlies the high frequency of renal failure that occurs in FAP following liver transplantation. The variable capacity of patients to mobilise amyloid deposits following liver transplantation may contribute to their long-term clinical outcome. (orig.)

  5. Serum amyloid P component scintigraphy in familial amyloid polyneuropathy: regression of visceral amyloid following liver transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Rydh, A.; Hietala, S.O.; Aahlstroem, K.R. [Department of Diagnostic Radiology, University Hospital of Northern Sweden, Umeaa (Sweden); Suhr, O. [Department of Internal Medicine, University Hospital of Northern Sweden, Umeaa (Sweden); Pepys, M.B.; Hawkins, P.N. [Immunological Medicine Unit, Department of Medicine, Imperial College School of Medicine, London (United Kingdom)

    1998-07-01

    Familial amyloid polyneuropathy (FAP) associated with transthyretin (TTR) mutations is the commonest type of hereditary amyloidosis. Plasma TTR is produced almost exclusively in the liver and orthotopic liver transplantation is the only available treatment, although the clinical outcome varies. Serum amyloid P component (SAP) scintigraphy is a method for identifying and quantitatively monitoring amyloid deposits in vivo, but it has not previously been used to study the outcome of visceral amyloid deposits in FAP following liver transplantation. Whole body scintigraphy following injection of iodine-123 labelled SAP was performed in 17 patients with FAP associated with TTR Met30 and in five asymptomatic gene carriers. Follow-up studies were performed in ten patients, eight of whom had undergone orthotopic liver transplantation 1-5 years beforehand. There was abnormal uptake of {sup 123}I-SAP in all FAP patients, including the kidneys in each case, the spleen in five cases and the adrenal glands in three cases. Renal amyloid deposits were also present in three of the asymptomatic carriers. Follow-up studies 1-5 years after liver transplantation showed that there had been substantial regression of the visceral amyloid deposits in two patients and modest improvement in three cases. The amyloid deposits were unchanged in two patients. In conclusion, {sup 123}I-SAP scintigraphy identified unsuspected visceral amyloid in each patient with FAP due to TTR Met30. The universal presence of renal amyloid probably underlies the high frequency of renal failure that occurs in FAP following liver transplantation. The variable capacity of patients to mobilise amyloid deposits following liver transplantation may contribute to their long-term clinical outcome. (orig.) With 2 figs., 2 tabs., 22 refs.

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

    Institute of Scientific and Technical Information of China (English)

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

    2006-01-01

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

  7. {sup 99m}Tc-DPD scintigraphy in transthyretin-related familial amyloidotic polyneuropathy

    Energy Technology Data Exchange (ETDEWEB)

    Puille, Max; Klett, Rigobert; Steiner, Dagmar; Bauer, Richard [Department of Nuclear Medicine, Justus-Liebig-University, Giessen (Germany); Altland, Klaus [Institute of Human Genetics, Justus-Liebig-University, Giessen (Germany); Linke, Reinhold P. [Max-Planck-Institute of Biochemistry, Martinsried (Germany); Steen-Mueller, Mary K. [Department of Medicine, Justus-Liebig-University, Giessen (Germany)

    2002-03-01

    Familial amyloidotic polyneuropathy (FAP) caused by amyloidogenic transthyretin (ATTR) mutations is the most common form of hereditary amyloidosis. We investigated the diagnostic value of the bone scanning agent technetium-99m 3,3-diphosphono-1,2-propanodicarboxylic acid ({sup 99m}Tc-DPD) in this disease. Eight patients (four males, four females; age 54.4{+-}8.3 years, range 43-67 years) with ATTR-FAP proven by immunohistochemistry and molecular analysis and a control group comprising ten oncological out-patients (five males, five females; age 53.4{+-}8.5 years, range 34-66 years) without evidence of bony metastases were studied using {sup 99m}Tc-DPD. Whole body tracer retention was 80.1%{+-}10.3% (range 65.1%-94.8%) in FAP patients and 55.7%{+-}8.1% (range 40.2%-66.7%) in controls at 3 h p.i. (P<0.001), and cardiac uptake was 7.3%{+-}2.2% (range 4.2%-10.1%) in FAP patients and 3.1%{+-}0.5% (range 2.3%-4.0%) in controls (P<0.001). The heart/whole body uptake ratio was 8.9%{+-}1.7% (range 6.5%-11.0%) in FAP patients and 5.6%{+-}0.5% (range 5.1%-6.8%) in controls (P<0.001). The three FAP patients with the highest cardiac tracer uptake had cardiomyopathy or arrhythmia. {sup 99m}Tc-DPD scintigraphy is proposed as a simple and valuable diagnostic aid to evaluate the severity of the disease and the risk of concomitant heart problems. (orig.)

  8. Low serum levels of prohepcidin, but not hepcidin-25, are related to anemia in familial amyloidosis TTR V30M.

    NARCIS (Netherlands)

    Beirao, I.; Almeida, S.; Swinkels, D.W.; Costa, P.M.; Moreira, L.; Fonseca, I.; Freitas, C.; Cabrita, A.; Porto, G.

    2008-01-01

    Familial amyloidosis TTR V30M (FAP-I) usually presents as a sensorimotor and autonomic neuropathy. Anemia was first described in this disease more than 20 years ago and classified as an anemia of chronic disease. However, so far no studies have addressed the role of inflammatory proteins in this dis

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

    NARCIS (Netherlands)

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

    2008-01-01

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

  10. Evaluation of tafamidis as first-line therapeutic agent for transthyretin familial amyloidotic polyneuropathy

    OpenAIRE

    Buxbaum JN

    2012-01-01

    Joel N BuxbaumDepartment of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USAAbstract: Almost 100 mutations in the human transthyretin (TTR) gene cause the autosomal dominant disorders of familial amyloidotic polyneuropathy (FAP) and familial amyloidotic cardiomyopathy. While these have been clinically classified as separate disorders, the peripheral and autonomic nervous systems and the heart are frequently involved in the same patient. Deposition of amyl...

  11. Montoneros, FAP Y Peronismo de Base ante las políticas económicas de los gobiernos justicialistas de 1973-1976

    OpenAIRE

    Marongiu, Federico

    2009-01-01

    This work wants to describe the different positions that adopted revolutionary organizations linked to Peronism when faced with the implementation of the economic policies by the peronist governements from 1973-1976. the analysis is focused mainly on the visions by Montoneros/ FAR, by Fuerzas Armadas Peronistas (FAP) and related organizations such as Peronismo de Base (PB) and Juventud de Trabajadores Peronistas (JTP). The work shows that there was not an homogeneous reaction to the economic...

  12. Montoneros, FAP Y Peronismo de Base ante las políticas económicas de los gobiernos justicialistas de 1973-1976

    OpenAIRE

    Marongiu, Federico

    2009-01-01

    This work wants to describe the different positions that adopted revolutionary organizations linked to Peronism when faced with the implementation of the economic policies by the peronist governements from 1973-1976. the analysis is focused mainly on the visions by Montoneros/ FAR, by Fuerzas Armadas Peronistas (FAP) and related organizations such as Peronismo de Base (PB) and Juventud de Trabajadores Peronistas (JTP). The work shows that there was not an homogeneous reaction to the economic ...

  13. Frequency of Cardiovascular Involvement in Familial Amyloidotic Polyneuropathy in Brazilian Patients

    Directory of Open Access Journals (Sweden)

    Márcia Cavalcanti de Campos Queiroz

    2015-11-01

    Full Text Available Background:Familial amyloidotic polyneuropathy (FAP is a rare disease diagnosed in Brazil and worldwide. The frequency of cardiovascular involvement in Brazilian FAP patients is unknown.Objective:Detect the frequency of cardiovascular involvement and correlate the cardiovascular findings with the modified polyneuropathy disability (PND score.Methods:In a national reference center, 51 patients were evaluated with clinical examination, electrocardiography (ECG, echocardiography (ECHO, and 24-hour Holter. Patients were classified according to the modified PND score and divided into groups: PND 0, PND I, PND II, and PND > II (which included PND IIIa, IIIb, and IV. We chose the classification tree as the statistical method to analyze the association between findings in cardiac tests with the neurological classification (PND.Results:ECG abnormalities were present in almost 2/3 of the FAP patients, whereas ECHO abnormalities occurred in around 1/3 of them. All patients with abnormal ECHO also had abnormal ECG, but the opposite did not apply. The classification tree identified ECG and ECHO as relevant variables (p < 0.001 and p = 0.08, respectively. The probability of a patient to be allocated to the PND 0 group when having a normal ECG was over 80%. When both ECG and ECHO were abnormal, this probability was null.Conclusions:Brazilian patients with FAP have frequent ECG abnormalities. ECG is an appropriate test to discriminate asymptomatic carriers of the mutation from those who develop the disease, whereas ECHO contributes to this discrimination.

  14. 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

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

    DEFF Research Database (Denmark)

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

    2004-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2006-03-15

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

  17. Monitoring acute equine visceral pain with the Equine Utrecht University Scale for Composite Pain Assessment (EQUUS-COMPASS) and the Equine Utrecht University Scale for Facial Assessment of Pain (EQUUS-FAP): A scale-construction study.

    Science.gov (United States)

    van Loon, Johannes P A M; Van Dierendonck, Machteld C

    2015-12-01

    Although recognition of equine pain has been studied extensively over the past decades there is still need for improvement in objective identification of pain in horses with acute colic. This study describes scale construction and clinical applicability of the Equine Utrecht University Scale for Composite Pain Assessment (EQUUS-COMPASS) and the Equine Utrecht University Scale for Facial Assessment of Pain (EQUUS-FAP) in horses with acute colic. A cohort follow-up study was performed using 50 adult horses (n = 25 with acute colic, n = 25 controls). Composite pain scores were assessed by direct observations, Visual Analog Scale (VAS) scores were assessed from video clips. Colic patients were assessed at arrival, and on the first and second mornings after arrival. Both the EQUUS-COMPASS and EQUUS-FAP scores showed high inter-observer reliability (ICC = 0.98 for EQUUS-COMPASS, ICC = 0.93 for EQUUS-FAP, P scores was found (ICC = 0.63, P <0.001). The cut-off value for differentiation between healthy and colic horses for the EQUUS-COMPASS was 5, and for differentiation between conservatively treated and surgically treated or euthanased patients it was 11. For the EQUUS-FAP, cut-off values were 4 and 6, respectively. Internal sensitivity and specificity were good for both EQUUS-COMPASS (sensitivity 95.8%, specificity 84.0%) and EQUUS-FAP (sensitivity 87.5%, specificity 88.0%). The use of the EQUUS-COMPASS and EQUUS-FAP enabled repeated and objective scoring of pain in horses with acute colic. A follow-up study with new patients and control animals will be performed to further validate the constructed scales that are described in this study.

  18. 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

  19. Expression of FAP, ADAM12, WISP1, and SOX11 is heterogeneous in aggressive fibromatosis and spatially relates to the histologic features of tumor activity

    International Nuclear Information System (INIS)

    Aggressive fibromatosis (AF) represents a group of tumors with a variable and unpredictable clinical course, characterized by a monoclonal proliferation of myofibroblastic cells. The optimal treatment for AF remains unclear. Identification and validation of genes whose expression patterns are associated with AF may elucidate biological mechanisms in AF, and aid treatment selection. This study was designed to examine the protein expression by immunohistochemistry (IHC) of four genes, ADAM12, FAP, SOX11, and WISP1, that were found in an earlier study to be uniquely overexpressed in AF compared with normal tissues. Digital image analysis was performed to evaluate inter- and intratumor heterogeneity, and correlate protein expression with histologic features, including a histopathologic assessment of tumor activity, defined by nuclear chromatin density ratio (CDR). AF tumors exhibited marked inter- and intratumor histologic heterogeneity. Pathologic assessment of tumor activity and digital assessment of average nuclear size and CDR were all significantly correlated. IHC revealed protein expression of all four genes. IHC staining for ADAM12, FAP, and WISP1 correlated with CDR and was higher, whereas SOX11 staining was lower in tumors with earlier recurrence following excision. All four proteins were expressed, and the regional variation in tumor activity within and among AF cases was demonstrated. A spatial correlation between protein expression and nuclear morphology was observed. IHC also correlated with the probability of recurrence following excision. These proteins may be involved in AF pathogenesis and the corresponding pathways could serve as potential targets of therapy

  20. The relationship between effectiveness and costs measured by a risk-adjusted case-mix system: multicentre study of Catalonian population data bases

    Directory of Open Access Journals (Sweden)

    Flor-Serra Ferran

    2009-06-01

    Full Text Available Abstract Background The main objective of this study is to measure the relationship between morbidity, direct health care costs and the degree of clinical effectiveness (resolution of health centres and health professionals by the retrospective application of Adjusted Clinical Groups in a Spanish population setting. The secondary objectives are to determine the factors determining inadequate correlations and the opinion of health professionals on these instruments. Methods/Design We will carry out a multi-centre, retrospective study using patient records from 15 primary health care centres and population data bases. The main measurements will be: general variables (age and sex, centre, service [family medicine, paediatrics], and medical unit, dependent variables (mean number of visits, episodes and direct costs, co-morbidity (Johns Hopkins University Adjusted Clinical Groups Case-Mix System and effectiveness. The totality of centres/patients will be considered as the standard for comparison. The efficiency index for visits, tests (laboratory, radiology, others, referrals, pharmaceutical prescriptions and total will be calculated as the ratio: observed variables/variables expected by indirect standardization. The model of cost/patient/year will differentiate fixed/semi-fixed (visits costs of the variables for each patient attended/year (N = 350,000 inhabitants. The mean relative weights of the cost of care will be obtained. The effectiveness will be measured using a set of 50 indicators of process, efficiency and/or health results, and an adjusted synthetic index will be constructed (method: percentile 50. The correlation between the efficiency (relative-weights and synthetic (by centre and physician indices will be established using the coefficient of determination. The opinion/degree of acceptance of physicians (N = 1,000 will be measured using a structured questionnaire including various dimensions. Statistical analysis: multiple regression

  1. Familial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis

    Directory of Open Access Journals (Sweden)

    Hund E

    2012-06-01

    Full Text Available Ernst HundDepartment of Neurology, University of Heidelberg, Heidelberg, GermanyAbstract: Transthyretin familial amyloid polyneuropathy (TTR-FAP is a fatal clinical disorder characterized by extracellular deposition of abnormal fibrils derived from misfolded, normally soluble transthyretin (TTR molecules. The disease is most commonly caused by a point mutation within the TTR gene inherited in an autosomal dominant fashion. Over 100 of such mutations have been identified, leading to destabilization of the physiological TTR tetramer. As a result, many monomers originate with a tendency for spontaneous conformational changes and self-aggregation. The main clinical feature of TTR-FAP is progressive sensorimotor and autonomic neuropathy. In the beginning, this polyneuropathy predominantly involves small unmyelinated nerve fibers with the result of dissociated sensory loss disproportionately affecting sensation of pain and temperature. Autonomic neuropathy typically accompanies sensory deficits early in the disease course. The symptoms include orthostatic hypotension, constipation alternating with diarrhea, erectile dysfunction, anhydrosis, and urinary retention or incontinence. Later, involvement of motor fibers causes rapidly progressive weakness and gait disturbances. In addition to the peripheral nervous system, the heart and the gut are frequently affected. Onset of symptoms is bimodal, with one peak at age 33 years (early onset and another distinct peak in the sixth decade of life (late onset. The course of TTR-FAP is uniformly progressive and fatal. Death occurs an average of 10.8 years after the onset of symptoms in Portuguese patients, and 7.3 years in late-onset Japanese patients. Common causes include cachexia, cardiac failure, arrhythmia, and secondary infections. Liver transplantation is the standard therapy for patients who are in a clinical condition good enough to tolerate this intervention because it stops progression of neuropathy by

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

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

    Institute of Scientific and Technical Information of China (English)

    张敏; 兰风华

    2014-01-01

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

  4. 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.

  5. Monitoring acute equine visceral pain with the Equine Utrecht University Scale for Composite Pain Assessment (EQUUS-COMPASS) and the Equine Utrecht University Scale for Facial Assessment of Pain (EQUUS-FAP): A validation study.

    Science.gov (United States)

    VanDierendonck, Machteld C; van Loon, Johannes P A M

    2016-10-01

    This study presents the validation of two recently described pain scales, the Equine Utrecht University Scale for Composite Pain Assessment (EQUUS-COMPASS) and the Equine Utrecht University Scale for Facial Assessment of Pain (EQUUS-FAP), in horses with acute colic. A follow-up cohort study of 46 adult horses (n = 23 with acute colic; n = 23 healthy control horses) was performed for validation and refinement of the constructed scales. Both pain scales showed statistically significant differences between horses with colic and healthy control horses, and between horses with colic that could be treated conservatively and those that required surgical treatment or were euthanased. Sensitivity and specificity were good for both EQUUS-COMPASS (87% and 71%, respectively) and EQUUS-FAP (77% and 100%, respectively) and were not substantially influenced by applying weighting factors to the individual parameters. PMID:27687948

  6. 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

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

    Directory of Open Access Journals (Sweden)

    Meuller Johan

    2008-04-01

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

  8. 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...... and in the distal 3' end. The main features of AFAP are 100 or less colorectal adenomas with a tendency to rectal sparing, a delay in onset of adenomatosis and bowel symptoms of 20-25 years, a delay in onset of colorectal cancer (CRC) of 10-20 years and death from CRC of 15-20 years, and although the lifetime...... penetrance of CRC appears to be high, CRC does not seem to develop in nearly all affected patients. A more limited expression of the extracolonic features is seen, but gastric and duodenal adenomas are frequently encountered. Colonoscopy is preferred to sigmoidoscopy, should begin at the age of 20-25 years...

  9. Bilateral optic neuropathy in a patient with familial amyloidotic polyneuropathy

    DEFF Research Database (Denmark)

    Hamann, Steffen; Jensen, Peter Koch; Fledelius, Hans Callø

    2013-01-01

    Amyloidogenic transthyretin (ATTR)-related familial amyloidotic polyneuropathy (FAP) is an autosomal-dominant hereditary disease characterised by slowly progressive peripheral sensorimotor and autonomic neuropathy and tissue involvement of the heart, kidneys and central nervous system. Secondary...... ATTR Val30Met mutation. After 11 years of ophthalmic follow-up best-corrected visual acuity was 20/100 in his seeing eye, which further had visual field findings suggestive of optic neuropathy. This was also the diagnosis underlying the preceding insidious full loss of vision in the fellow eye......, with colour Doppler imaging to support an ischaemic aetiology. To our knowledge, this is the first report of ischaemic optic neuropathy in this familial amyloid disorder....

  10. 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

  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. Extracellular Matrix Markers for Disease Progression and Follow-Up of Therapies in Familial Amyloid Polyneuropathy V30M TTR-Related

    Directory of Open Access Journals (Sweden)

    I. Cardoso

    2008-01-01

    Full Text Available Familial Amyloidotic Polyneuropathy (FAP is a disorder characterized by the extracellular deposition of fibrillar Transthyretin (TTR amyloid, with a special involvement of the peripheral nerve. Several extracellular matrix proteins have been found elevated in tissues from FAP patients, namely metalloproteinase-9 (MMP-9, neutrophil gelatinase associated lipocalin (NGAL and biglycan. In this work we assessed the levels of MMP-9, tissue inhibitor of metalloproteinase 1 (TIMP-1, NGAL, biglycan and chondroitin sulphate (CSPG in an FAP V30M TTR-related transgenic mouse model at different stages of TTR deposition and after two different treatment approaches to remove fibrillar deposits. Immunohistochemistry or RT-PCR analysis showed that biglycan was already increased in animals presenting TTR deposited in a non-fibrillar state, whereas MMP-9, TIMP-1, NGAL and CSPG were elevated only in mice with TTR amyloid deposits. Mice treated with doxycycline, a TTR fibril disrupter, presented lower levels of MMP-9, TIMP-1 and NGAL, suggestive of matrix recovery. Mice immunized with TTR Y78F to remove TTR deposition showed significantly lower levels of all the five tested markers, suggesting removal of fibrillar and non-fibrillar deposits. Cellular studies using oligomeric TTR showed induction of MMP-9 when compared to soluble TTR, large aggregates or fibrils. Furthermore, this induction was neutralized by an anti-receptor for advanced glycation end products (RAGE antibody, indicating RAGE engagement in this process. Further studies in a larger number of tissue samples will indicate the application of these ECM markers in parallel with Congo Red staining in tissue characterization of pre-clinical and clinical stages in FAP and other amyloidoses.

  13. 5个家族性腺瘤样息肉病家系APC基因突变研究%Analysis of APC mutation in five kindreds of familial adenomatous polyposis

    Institute of Scientific and Technical Information of China (English)

    珠珠; 黄鉴; 董坚; 洪敏; 田晰晰; 杨军; 陈明清

    2012-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Patrick A. Williams BS

    2013-04-01

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

  15. Evaluation of tafamidis as first-line therapeutic agent for transthyretin familial amyloidotic polyneuropathy

    Directory of Open Access Journals (Sweden)

    Buxbaum JN

    2012-10-01

    Full Text Available Joel N BuxbaumDepartment of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USAAbstract: Almost 100 mutations in the human transthyretin (TTR gene cause the autosomal dominant disorders of familial amyloidotic polyneuropathy (FAP and familial amyloidotic cardiomyopathy. While these have been clinically classified as separate disorders, the peripheral and autonomic nervous systems and the heart are frequently involved in the same patient. Deposition of amyloid derived from a kinetically or thermodynamically unstable mutant TTR precursor produces an ascending sensorimotor polyneuropathy with marked autonomic involvement. Since 1990, treatment has been liver transplantation from a donor carrying two wild-type TTR genes, providing a crude form of gene therapy. Multiple studies have shown that small molecules fitting in the T4-binding pocket of TTR can stabilize the molecule, reducing its capacity to release the fibril precursor. Tafamidis is the first molecule to be tested in a placebo-controlled trial in patients with TTR-associated FAP. While the trial did not achieve its primary endpoints, it did stabilize TTR in vivo and had a favorable effect on some aspects of disease progression, particularly when administered early in the course. It may represent an alternative to liver transplantation, particularly in patients with early disease related to the V30M mutation. Longer-term studies are required to determine whether it represents a stabilizing or remittive form of treatment.Keywords: tafamidis, transthyretin, polyneuropathy, treatment

  16. 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.

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

    Directory of Open Access Journals (Sweden)

    Orestis Ioannidis

    2012-03-01

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

  18. Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience.

    Science.gov (United States)

    Barreiros, Ana-Paula; Post, Felix; Hoppe-Lotichius, Maria; Linke, Reinhold P; Vahl, Christian F; Schäfers, Hans-Joachim; Galle, Peter R; Otto, Gerd

    2010-03-01

    Liver transplantation (LT) is the only curative option for patients with familial amyloid polyneuropathy (FAP) at present. Twenty patients with FAP underwent LT between May 1998 and June 2007. Transthyretin mutations included predominantly the Val30Met mutation but also 10 other mutations. Seven patients received a pacemaker prior to LT, and because of impairment of mechanical cardiac function, 4 combined heart-liver transplants were performed, 1 simultaneously and 3 sequentially. The first patient, who underwent simultaneous transplantation, died. Seven patients died after LT, with 5 dying within the first year after transplantation. The causes of death were cardiac complications (4 patients), infections (2 patients), and malnutrition (1 patient). One-year survival was 75.0%, and 5-year survival was 64.2%. Gly47Glu and Leu12Pro mutations showed an aggressive clinical manifestation: 2 patients with the Gly47Glu mutation, the youngest patients of all the non-Val30Met patients, suffered from severe cardiac symptoms leading to death despite LT. Two siblings with the Leu12Pro mutation, who presented only with grand mal seizures, died after LT because of sepsis. In conclusion, the clinical course in patients with FAP is very variable. Cardiac symptoms occurred predominantly in patients with non-Val30Met mutations and prompted combined heart-liver transplantation in 4 patients. Although early LT in Val30Met is indicated in order to halt the typical symptoms of polyneuropathy, additional complications occurring predominantly with other mutations may prevail and lead to life-threatening complications or a fatal outcome. Combined heart-liver transplantation should be considered in patients with restrictive cardiomyopathy. PMID:20209591

  19. Family Life

    Science.gov (United States)

    ... Family and Friends > Family Life Request Permissions Family Life Approved by the Cancer.Net Editorial Board , 07/ ... treatment become as overwhelming for others in your life as they are for you. Understanding the potential ...

  20. Familial hypertriglyceridemia

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000397.htm Familial hypertriglyceridemia To use the sharing features on this page, please enable JavaScript. Familial hypertriglyceridemia is a common disorder passed down through families. ...

  1. Family Disruptions

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Disruptions Page Content Article Body No matter how ...

  2. Family Arguments

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Arguments Page Content Article Body We seem to ...

  3. Family Meals

    Science.gov (United States)

    ... Story" 5 Things to Know About Zika & Pregnancy Family Meals KidsHealth > For Parents > Family Meals Print A ... even more important as kids get older. Making Family Meals Happen It can be a big challenge ...

  4. Diagnosis of familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen

    1991-01-01

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

  5. Family Privilege

    Science.gov (United States)

    Seita, John R.

    2014-01-01

    Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…

  6. Muslim Families and Family Therapy.

    Science.gov (United States)

    Daneshpour, Manijeh

    1998-01-01

    Examines the applicability of the Anglo-American models of family therapy to Muslim immigrant families. The differences in value systems are the Muslim families' preferences for greater connectedness, a less flexible and more hierarchical family structure, and an implicit communication style. Suggests that directions for change for Muslims need to…

  7. Energy saving in Spanish buildings. Two Catalonian case studies.

    OpenAIRE

    Ràfols Salvador, Milena

    2008-01-01

    Aquest estudi ha estat realitzat a Chalmers University of Technology, Göteborg, Suècia, i s’engloba en el projecte d’àmbit europeu Pathways to Sustainable European Energy Systems que té per objectiu trobar camins (patwhays) que permetin una transició entre els sistemes energètics actuals i sistemes energètics sostenibles. En aquest marc, aquest Projecte Fi de Carrera (PFC) és part d’un procés que té per objectiu desenvolupar una metodologia per descriure el parc d’habitatges eu...

  8. Familial gigantism

    Directory of Open Access Journals (Sweden)

    Wouter W. de Herder

    2012-01-01

    Full Text Available Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

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

    DEFF Research Database (Denmark)

    Rohlin, A; Engwall, Y; Fritzell, K;

    2011-01-01

    of this promoter in the largest family (Family 1) of the Swedish Polyposis Registry. The mutation leads to an imbalance in allele-specific expression of APC, and transcription from promoter 1B was highly impaired in both normal colorectal mucosa and blood from mutation carriers. To establish the significance......Familial adenomatous polyposis (FAP) is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Two promoters, 1A and 1B, have been recognized in APC, and 1B is thought to have a minor role in the regulation of the gene. We have identified a novel deletion encompassing half...... of promoter 1B in normal colorectal mucosa (from controls), expression levels of specific transcripts from each of the promoters, 1A and 1B, were examined, and the expression from 1B was significantly higher compared with 1A. Significant amounts of transcripts generated from promoter 1B were also determined...

  10. Family therapy

    Directory of Open Access Journals (Sweden)

    Shaikh Altamash

    2013-01-01

    Full Text Available Another major force not letting us succeed in the treatment of diabetes remains right inside the patients home, their family members. Hence, it is important to know the perception of the close family members about this simple and strong tool in diabetes, ′insulin′. The drug is nearing its century, it has not fully being accepted gracefully even in todays electronic savvy society. So, we need to strongly discover the reason for its non-acceptance, while trials are out inventing new drugs. One vital thing that can change this attitude is increasing the understanding of this drug, insulin in depth to close people around the patient, the ′family′. Underestimating family′s perception about disease and treatment for diabetes is detrimental to both diseased and the doctor. This consists of a biopsychosocial model; biological, psychological and social factors. Family forms the most important part of it. The strategies in family therapy include psychodynamic, structural, strategic, and cognitive-behavioral component. Diabetes has and will continue to rise, so will be the treatment options. From the clinicians side its to fix fasting first but from patients its fix family first. Family therapy demonstrates the importance of insulin initiation and maintenance in insulin naive patients, and continuation for others. The specific needs of such patients and their impact on family life are met with family therapy. Who needs family therapy? Benefits of family therapy and a case based approach is covered.

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

    Institute of Scientific and Technical Information of China (English)

    蔡善荣; 张苏展; 郑树

    2008-01-01

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

  12. Family Finance

    OpenAIRE

    Christopher Kobrak

    2008-01-01

    As Mira Wilkins has argued, there is a curious disconnect between business and financial history. (Wilkins, 2003) Whereas business history literature has rediscovered the importance of family business in many countries and in many sectors of contemporary commercial life, for example, little has been written about family banking as an alternative to joint-stock, management-run financial institutions. This lacuna is odd for many reasons. First, family banking is one of the best-known examples o...

  13. My Family

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    Everyone has a family.We live in it and feel very warm.There are three persons in my family,my mother,father and I.We live together very happily and there are many interesting stories about my family. My father is a hard-working man.He works as a doctor.He always tries his best to help every,patient and make patients comfortable.But sonetimes he works so hard

  14. Family literacy

    DEFF Research Database (Denmark)

    Sehested, Caroline

    2012-01-01

    I Projekt familielæsning, der er et samarbejde mellem Nationalt Videncenter for Læsning og Hillerød Bibliotek, arbejder vi med at få kontakt til de familier, som biblioteket ellers aldrig ser som brugere og dermed også de børn, der vokser op i familier, for hvem bøger og oplæsningssituationer ikke...... er en selvfølgelig del af barndommen. Det, vi vil undersøge og ønsker at være med til at udvikle hos disse familier, er det, man kan kalde family literacy....

  15. Family matters

    DEFF Research Database (Denmark)

    Kieffer-Kristensen, Rikke; Siersma, Volkert Dirk; Teasdale, Thomas William

    2013-01-01

    scores for the children. For the adjusted associations, we again found the family stress variables in the healthy spouse to be related to the risk of emotional and behavioral problems in the children. CONCLUSIONS: The present results suggest that in ABI families, the children’s emotional functioning......OBJECTIVES: To relate illness and family factors to emotional and behavioural problems in school-age children (7–14 years old) of parents with acquired brain injury and their healthy spouses. PARTICIPANTS, MATERIALS/METHODS: Members of 35 families in which a parent had been diagnosed with acquired...... brain injury participated. Family and brain injury characteristics were reported by the ill and healthy parents. Children self-reported post-traumatic stress symptoms (PSS) using the Child Impact of Events revised (CRIES). Emotional and behavioural problems among the children were also identified...

  16. FAMILY RHAGIONIDAE.

    Science.gov (United States)

    Santos, Charles Morphy D; Carmo, Daniel D D

    2016-01-01

    The family Rhagionidae is one of the oldest Brachyeran lineages. Its monophyly is still uncertain. There are four rhagionid genera distributed in Neotropical Region but only three species of Chrysopilus are found in Colombia. PMID:27395270

  17. FAMILY PIOPHILIDAE.

    Science.gov (United States)

    Wolff, Marta; Pérez, Sandra; Grisales, Diana

    2016-01-01

    Piophilidae is a little family poorly known in Colombia, with only Piophila casei (L.) and Stearibia nigriceps Meigen reported so far. This catalogue expands the distribution of these species to other localities in the country. PMID:27395294

  18. Family History

    Science.gov (United States)

    ... to your relatives about their health. Draw a family tree and add the health information. Having copies of medical records and death certificates is also helpful. Centers for Disease Control and Prevention

  19. Familial hypercholesterolemia

    Science.gov (United States)

    ... hypercholesterolemia or early heart attacks High level of LDL cholesterol in either or both parents People from families ... called fibroblasts to see how the body absorbs LDL cholesterol Genetic test for the defect associated with this ...

  20. Family Business

    OpenAIRE

    UNAI ARTECHE

    2003-01-01

    Family Business, Pitzhanger Manor. Curated by Danielle Arnaud and Matthew Poole. The artists in the exhibition explore how their 'authorship' or 'individuality' is expressed as images. Here, artworks are produced that deal with the public face of the personal, private or local. In brief, the thematic of this exhibition is interested in the consequence and legitimacy of 'individual choice' as a genre or style. Hence, Family Business looks to artworks that claim, utilise and reflect upon lan...

  1. Statistical Analysis of Cardiovascular Data from FAP

    Science.gov (United States)

    Sealey, Meghan

    2016-01-01

    Astronauts show signs of cardiac atrophy during spaceflight. Prolonged bed rest studies on Earth are used to further study the effects on certain cardiovascular measurements of astronauts in space. A study was performed to see if the duration of bed rest and the gender of the subject had any effect on these measurements. The data collected from the subjects of the bed rest study included various blood and cardiac outcomes, such as blood and plasma volume, hemoglobin count, hematocrit percentage, left ventricular mass, stroke volume, mitral E and A wave velocities, etc. My main responsibility for this project was to analyze the bed rest data given in order to characterize the effects of gender, weight, in-bed and post-bed days, and duration of bed rest on the multiple cardiovascular outcomes measured. I used a mixed- effects linear regression analysis on the data. From this, I was able to fit the best model for each outcome, which was then used to make predictions for future bed rest studies. Concluding the analysis, we found that gender had an effect on the left ventricular mass, left ventricular diastolic volume, and stroke volume of subjects entering bed rest. We also found that weight had an effect on the left ventricular systolic volume of subjects entering bed rest. The duration of bed rest also had an effect on recovery for most of the outcomes. The only outcome where duration was not significant at all was left ventricular mass. Overall, we can conclude that gender and duration do affect astronauts' cardiovascular measurements when in spaceflight. Astronauts also show an increased susceptibility to orthostatic intolerance during spaceflight. In order to study the effects on orthostatic intolerance of astronauts, tilt tests were performed on bed rest subjects here on Earth. As a second project, I used the method of maximum likelihood to compare different functions of a set of eight cardiovascular measurements (e.g. heart rate, systolic and diastolic blood pressure, etc.) to see which could best predict how long the subjects could tolerate the tilt tests. With this I plan to analyze an artificial gravity study in order to determine the effects of orthostatic intolerance during spaceflight. From these projects, I became efficient in using the statistical software Stata, which I had previously never used before. I learned new statistical methods, such as mixed-effects linear regression, maximum likelihood estimation on longitudinal data, and post model-fitting tests to see if certain parameters contribute significantly to the model, all of which will better my understanding for when I continue studying for my masters' degree. I was also able to demonstrate my knowledge of statistics by helping other students run statistical analyses for their own projects. After completing these projects, the experience and knowledge gained from completing this analysis exemplifies the type of work that I would like to pursue in the future. After completing my masters' degree, I plan to pursue a career in biostatistics, which is exactly the position that I interned as, and I plan to use this experience to contribute to that goal

  2. 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

  3. Family business

    OpenAIRE

    KLUZÁKOVÁ, Lucie

    2009-01-01

    This thesis focuses on family business companies and above all on their problem of succession planning. For the purposes of this work, I have chosen a family business company that is owned by two shareholders. Both shareholders are going to leave the company within next 5 to 10 years. The thesis deals with the succession plan of both shareholders and this concerning the rate of preparedness as well as the rate of coordination of both plans. Prior to the research, two hypotheses were fixed. Th...

  4. Family therapy.

    OpenAIRE

    Shaikh Altamash

    1987-01-01

    Another major force not letting us succeed in the treatment of diabetes remains right inside the patients home, their family members. Hence, it is important to know the perception of the close family members about this simple and strong tool in diabetes, ′insulin′. The drug is nearing its century, it has not fully being accepted gracefully even in todays electronic savvy society. So, we need to strongly discover the reason for its non-acceptance, while trials are out inventing new drugs. One ...

  5. FAMILY ROPALOMERIDAE.

    Science.gov (United States)

    Ale-Rocha, Rosaly

    2016-01-01

    Ropalomeridae is a small family with most species distributed in the Neotropical Region, from Mexico to Argentina, and only one Nearctic species. In Colombia, eight species distributed in four genera have been found. This catalogue, based on the study of specimens and available literature records, summarizes and updates the information on the Colombian fauna. PMID:27395300

  6. Familial hyperamylasemia

    Directory of Open Access Journals (Sweden)

    Koda Yu Kar Ling

    2002-01-01

    Full Text Available A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family members were normal in his father and maternal grandmother but elevated in his mother, sister, maternal aunt, and uncle, all of whom asymptomatic. Macroamylasemia was excluded in the child and in the mother. The finding of persistently elevated amylasemia in the child and in the other family members spanning 3 generations, and the exclusion of diseases that lead to hyperamilasemia are consistent with the diagnosis of familial hyperamylasemia. Until now, only 1 similar case has been reported. Familial hyperamylasemia must be considered in the differential diagnosis of hyperamylasemias in childhood.

  7. Familial hyperamylasemia.

    Science.gov (United States)

    Koda, Yu Kar Ling; Vidolin, Eliana

    2002-01-01

    A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family members were normal in his father and maternal grandmother but elevated in his mother, sister, maternal aunt, and uncle, all of whom asymptomatic. Macroamylasemia was excluded in the child and in the mother. The finding of persistently elevated amylasemia in the child and in the other family members spanning 3 generations, and the exclusion of diseases that lead to hyperamilasemia are consistent with the diagnosis of familial hyperamylasemia. Until now, only 1 similar case has been reported. Familial hyperamylasemia must be considered in the differential diagnosis of hyperamylasemias in childhood. PMID:11981589

  8. Family Circle

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Foster care is conducive to giving orphaned children a better life For most children living in orphanages, having a real home is just a pipe dream. Although they may be well looked after, receive a good education and proper nutrition, the love and care that come from being part of a real family just aren't there.

  9. Finding Family

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Discovering her birth parents was an exciting adventure for a 15-year-old girl It took 14 years-and just two minutes-for an adopted Chinese girl to find her biological family.July 21 this year marked the first

  10. Family Hypnotherapy.

    Science.gov (United States)

    Araoz, Daniel L.; Negley-Parker, Esther

    1985-01-01

    A therapeutic model to help families activate experiential and right hemispheric functioning through hypnosis is presented in detail, together with a clinical illustration. Different situations in which this model is effective are mentioned and one such set of circumstances is described. (Author)

  11. Familial hyperaldosteronism.

    Science.gov (United States)

    Stowasser, M; Gordon, R D

    2001-09-01

    Primary aldosteronism (PAL) may be as much as ten times more common than has been traditionally thought, with most patients normokalemic. The study of familial varieties has facilitated a fuller appreciation of the nature and diversity of its clinical, biochemical, morphological and molecular aspects. In familial hyperaldosteronism type I (FH-I), glucocorticoid-remediable PAL is caused by inheritance of an ACTH-regulated, hybrid CYP11B1/CYP11B2 gene. Genetic testing has greatly facilitated diagnosis. Hypertension severity varies widely, demonstrating relationships with gender, affected parent's gender, urinary kallikrein level, degree of biochemical disturbance and hybrid gene crossover point position. Analyses of aldosterone/PRA/cortisol 'day-curves' have revealed that (1) the hybrid gene dominates over wild type CYP11B2 in terms of aldosterone regulation and (2) correction of hypertension in FH-I requires only partial suppression of ACTH, and much smaller glucocorticoid doses than those previously recommended. Familial hyperaldosteronism type II is not glucocorticoid-remediable, and is clinically, biochemically and morphologically indistinguishable from apparently sporadic PAL. In one informative family available for linkage analysis, FH-II does not segregate with either the CYP11B2, AT1 or MEN1 genes, but a genome-wide search has revealed linkage with a locus in chromosome 7. As has already occurred in FH-I, elucidation of causative mutations is likely to facilitate earlier detection of PAL and other curable or specifically treatable forms of hypertension. PMID:11595502

  12. FAMILY BOMBYLIIDAE.

    Science.gov (United States)

    Lamas, Carlos José Einicker; Evenhuis, Neal L

    2016-01-01

    Bombyliidae is one of the largest Diptera families with more than 4,500 recognized species worldwide. Their species vary from robust to thin, and may be small to large (2-20mm) and looks like bees or wasps. They also present great variation in color. Adults can often be seen either resting and sunning themselves on trails, rocks or twigs or feeding on flowering plants as they are nectar feeders. All reared bee flies are predators or parasitoids of arthropods. The Colombian fauna of bombyliids comprises at the moment 22 species, and 12 genera, of which, six are endemic species. Nonetheless, this number may be much higher, as Colombia is a megadiverse country and there are not many specimens of this family deposited in collections all over the world. PMID:27395279

  13. Family Polymorphism

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    This paper takes polymorphism to the multi-object level. Traditional inheritance, polymorphism, and late binding interact nicely to provide both flexibility and safety — when a method is invoked on an object via a polymorphic reference, late binding ensures that we get the appropriate...... implementation of that method for the actual object. We are granted the flexibility of using different kinds of objects and different method implementations, and we are guaranteed the safety of the combination. Nested classes, polymorphism, and late binding of nested classes interact similarly to provide both...... safety and flexibility at the level of multi-object systems. We are granted the flexibility of using different families of kinds of objects, and we are guaranteed the safety of the combination. This paper highlights the inability of traditional polymorphism to handle multiple objects, and presents family...

  14. Familial hypercholesterolemia

    OpenAIRE

    Lahiri Koushik; Lahiri Bhabesh Chandra

    2001-01-01

    Familial hypercholesterolemia is a common, inherited disorder of cholesterol metabolism that leads to early cardiovascular morbidity and mortality. It is underdiagnosed and undertreated. Statins, ezetimibe, bile acid sequestrants, niacin, lomitapide, mipomersen and LDL apheresis are treatments that can lower LDL cholesterol levels. Early treatment can lead to substantial reduction of cardiovascular events and death in patients with FH. It is important to increase awareness of this disorder in...

  15. Familial Hypercholesterolemia

    Science.gov (United States)

    Bouhairie, Victoria Enchia; Goldberg, Anne Carol

    2015-01-01

    Familial hypercholesterolemia is a common, inherited disorder of cholesterol metabolism that leads to early cardiovascular morbidity and mortality. It is underdiagnosed and undertreated. Statins, ezetimibe, bile acid sequestrants, niacin, lomitapide, mipomersen and LDL apheresis are treatments that can lower LDL cholesterol levels. Early treatment can lead to substantial reduction of cardiovascular events and death in patients with FH. It is important to increase awareness of this disorder in physicians and patients in order to reduce the burden of this disorder. PMID:25939291

  16. Familial hyperamylasemia

    OpenAIRE

    Koda Yu Kar Ling; Vidolin Eliana

    2002-01-01

    A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family memb...

  17. Characteristics of family firms with family management

    OpenAIRE

    Søndergaard, Kathrine Lærke; Almli, Line Floan

    2012-01-01

    In this paper we examine what characterizes family firms’ decisions when it comes to having a family member being the CEO or the chairman of the board of the company. We define this as family management, which is the dependent variable in our research. This variable has four non-ordered mutually exclusive values; family CEO, family chairman of the board, family CEO and family chairman of the board, and neither family CEO nor family chairman of the board. Using data from the Center for Corpora...

  18. Family Genericity

    DEFF Research Database (Denmark)

    Ernst, Erik

    2006-01-01

    Type abstraction in object-oriented languages embody two techniques, each with its own strenghts and weaknesses. The first technique is extension, yielding abstraction mechanisms with good support for gradual specification. The prime example is inheritance. The second technique is functional...... abstraction, yielding more precise knowledge about the outcome. The prime example is type parameterized classes. This paper argues that these techniques should be clearly separated to work optimally, and also that current languages fail to do this. We have applied this design philosophy to a language based...... the result as family genericity. The presented language design has been implemented....

  19. Roles within the Family

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Text Size Email Print Share Roles Within the Family Page Content Article Body Families are not democracies. ...

  20. Integrating Family Resilience and Family Stress Theory.

    Science.gov (United States)

    Patterson, Joan M.

    2002-01-01

    The construct, family resilience, is defined differently by practitioners and researchers. This study tries to clarify the concept of family resilience. The foundation is family stress and coping theory, particularly the stress models that emphasize adaptation processes in families exposed to major adversities. (JDM)

  1. Family Psychology and Family Therapy in Japan.

    Science.gov (United States)

    Kameguchi, Kenji; Murphy-Shigematsu, Stephen

    2001-01-01

    Reviews the development of family psychology and family therapy in Japan, tracing the origins of these movements, explaining how these fields were activated by the problem of school refusal, and describing an approach to family therapy that has been developed to work with families confronting this problem, as well as preventive programs of family…

  2. Credentialing Caregivers. Families Matter.

    Science.gov (United States)

    Dean, Christiana

    The Families Matter series of papers from the Harvard Family Research Project advances the concept of family-centered child care, advocating an approach to early childhood education that addresses the development of the child and family together. Grounded in family support principles, which build on family strengths and work from a community's…

  3. Reclaiming Family Privilege

    Science.gov (United States)

    Seita, John

    2012-01-01

    The pull for family is strong, almost primeval, most likely it is evolutionary, and for those lacking the benefit of family or Family Privilege, the loss of family is painful and profoundly sad. Young people who struggle to cope without stable family connections are profoundly aware of their lack of "Family Privilege." In this article, the author…

  4. Family Reading Night

    Science.gov (United States)

    Hutchins, Darcy; Greenfeld, Marsha; Epstein, Joyce

    2007-01-01

    This book offers clear and practical guidelines to help engage families in student success. It shows families how to conduct a successful Family Reading Night at their school. Family Night themes include Scary Stories, Books We Love, Reading Olympics, Dr. Seuss, and other themes. Family reading nights invite parents to come to school with their…

  5. Family Capital: Implications for Interventions with Families

    Science.gov (United States)

    Belcher, John R.; Peckuonis, Edward V.; Deforge, Bruce R.

    2011-01-01

    Social capital has been extensively discussed in the literature as building blocks that individuals and communities utilize to leverage system resources. Similarly, some families also create capital, which can enable members of the family, such as children, to successfully negotiate the outside world. Families in poverty confront serious…

  6. PSYCHOLOGY OF FAMILY BUSINESS

    OpenAIRE

    Taylyakova, Feruzahon

    2014-01-01

    This article analyzes the basic psychological characteristics of family businesses. The author describes the psychological properties that contribute to improve individual and family businesses. The article also discusses mental properties adversely affect the development of a family business.

  7. Learning about Familial Hypercholesterolemia

    Science.gov (United States)

    ... genetic terms used on this page Learning About Familial Hypercholesterolemia What is familial hypercholesterolemia? What are the symptoms ... Hypercholesterolemia Additional Resources About Familial Hypercholesterolemia What is ... hypercholesterolemia is an inherited condition that causes ...

  8. Family Reunion Health Guide

    Science.gov (United States)

    ... can post this message as a note on Facebook, tagging family members and loved ones. You also may include ... gov . Planning Tip 2. | Develop a Family Reunion Facebook page and help family members stay in touch throughout the year. Share ...

  9. Normal Functioning Family

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Español Text Size Email Print Share Normal Functioning Family Page Content Article Body Is there any way ...

  10. Family Adjustment to Aphasia

    Science.gov (United States)

    ... Public / Speech, Language and Swallowing / Disorders and Diseases Family Adjustment to Aphasia Richard S. was a senior manager ... It also presents a great challenge to the family. There may be tension among family members and ...

  11. Family Activities for Fitness

    Science.gov (United States)

    Grosse, Susan J.

    2009-01-01

    This article discusses how families can increase family togetherness and improve physical fitness. The author provides easy ways to implement family friendly activities for improving and maintaining physical health. These activities include: walking, backyard games, and fitness challenges.

  12. Spontaneous Immortalization of Clinically Normal Colon-Derived Fibroblasts from a Familial Adenomatous Polyposis Patient

    Directory of Open Access Journals (Sweden)

    Nicholas R. Forsyth

    2004-05-01

    Full Text Available Normal human diploid cells do not spontaneously immortalize in culture, but instead enter replicative senescence after a finite number of population doublings. Ablation of key checkpoint arrest or cancersuppressor genes, through dominantly inherited germline mutation (p53+/-, Li-Fraumeni or viral oncogene expression (SV40 large T, HPV16/18, E6/E7 can lead to escape from senescence, additional doublings, entrance into crisis phase, where immortal clones emerge at low frequency. In the vast majority of cases, telomerase is reactivated and telomeres are stabilized. Here we describe the spontaneous immortalization of clinically normal fibroblasts derived from colonic stroma of a familial adenomatous polyposis (FAP patient. The preimmortal (C26C and the spontaneously immortalized derivative (C26Ci cells are heterozygous for a characterized germline mutation in exon 15 of the adenomatous polyposis coli gene. Immortalization was accompanied by spontaneous reactivation of endogenous telomerase and establishment of telomeres at presenescent lengths. Normal checkpoint behavior is retained and a diploid karyotype is maintained. These cells provide a valuable new addition to the limited number of spontaneously immortalized human cell types, particularly fibroblast cells, will be useful in experimentally determining the functional pathways in neoplastic development and in the identification of potential molecular targets for cancer chemoprevention.

  13. Branding a family business

    OpenAIRE

    Pohjola, Matti

    2016-01-01

    This master’s thesis main object was to understand better the very little researched topic: branding a family business. The main aim was to seek the values used behind family business that are the family values used in the brand and how the branding has been implemented in a family company. A qualitative method was chosen for this research for an interpretative analysis of the subject. Five family companies were chosen for the interviews. All these family companies are known Fi...

  14. Entrepreneurial Families : From a Family Enterprise to an Entrepreneurial Family

    OpenAIRE

    Sieger, Philipp; Zellweger, Thomas

    2013-01-01

    How do family firms succeed from generation to generation? While this is likely the most important question for the members of a family business, little is known about the central success factors in creating value across the generations. For this reason, our study aims to explore the secrets of family firms with a long, successful track record and to expand the current state of knowledge. In so doing, we want to look not only at «the family firm» but also broaden our scope to the entire entre...

  15. 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

  16. 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.

  17. A retrospective analysis of treatment effect of 34 cases of familial colorectal adenoma%34例家族性腺瘤性息肉病治疗效果回顾性分析

    Institute of Scientific and Technical Information of China (English)

    李晓景

    2016-01-01

    Objective To investigate clinical characteristics ,diagnosis ,treatment and progno‐sis of adenom atouspolyposis familial(FAP) .Methods The clinical data of 34 patients with FAP who were treated in hospital were collected and sorted S.ummary and analysis of relevant literature at home and abroad .Results The average age of 34 patients with FAP was 32 .4 years old ,the symptoms were abdominal pain ,diarrhea was the main ,70% cases had family history ,18 cases had a history of cancer ,the average age was 35 7. years old ,and 10 cases were treated for the first time . 19 cases were treated by surgical operation ,14 cases were treated by endoscopic resection ,8 cases were followed up for 5 years ,6 cases died .Conclusion FAP patients have a high incidence of age , high incidence of cancer ,and more family history and intestinal manifestations ,diagnosis and treat‐ment ,combined with imaging examination and gene selection ;the main line of surgery combined with endoscopic high - frequency electric resection ,assisted by drug therapy ;recurrence rate is high ,need long -term review .%①目的探讨家族性腺瘤性息肉病(familialadenomatouspolyposis,FAP)的临床特征、诊断方法、治疗方案及预后情况。②方法收集整理本院及淄博市中心医院诊治的34例FAP患者的临床资料。综合国内外相关文献进行总结分析。③结果34例FAP患者平均初诊年龄324.岁,症状以腹痛、腹泻为主,70%伴有肠外表现,22例有家族史,18例发生癌变,其中10例首次就诊即发现癌变,平均癌变年龄357.岁。19例行外科手术治疗,14例行内镜电切治疗;5年内随访息肉复发8例,病死6例。④结论 FAP患者发病年龄轻,癌变率高,多有家族史及肠外表现,诊断以内镜检查为主,结合影像学检查及基因筛选;治疗主要行外科手术结合内镜下高频电切,辅助以药物治疗;此病复发率高,需长期复查。

  18. Clinical, neuropathological and genetic findings in patients with transthyretin-associated familial amyloid polyneuropathy%转甲蛋白相关家族性淀粉样周围神经病的临床、病理与遗传学研究

    Institute of Scientific and Technical Information of China (English)

    关鸿志; 柳青; 陈琳; 钱敏; 刘智; 管宇宙; 任海涛; 赵燕环; 陈未

    2015-01-01

    目的 探讨转甲蛋白相关家族性淀粉样周围神经病(TTR-FAP)患者的临床、电生理、组织病理和遗传学表现.方法 对北京协和医院2006-2014年确诊的13个家系(先证者)和散发TTR-FAP病例进行临床观察、分期、系统评估和随访.对其中12例进行了周围神经和(或)肌肉活组织检查(活检),主要采用腓浅神经与腓骨短肌联合活检.同时采用转甲蛋白免疫组织化学染色和转甲蛋白基因检测.结果 (1)临床表现:13例先证者和散发病例,男性11例,女性2例,发病年龄17 ~53岁,平均37.7岁.5例以周围神经病起病;4例以晕厥和(或)短暂脑缺血发作样症状起病;4例以腹泻起病.从发病到确诊的平均时间为2.96年.全部患者均有感觉和运动性周围神经病和自主神经功能障碍.临床分期1期4例,2期5例,3期4例.(2)神经肌肉活检病理:周围神经病理改变为慢性活动性轴索性损害,肌肉病理改变以神经源性损害为主,刚果红和转甲蛋白免疫组织化学染色阳性,提示转甲蛋白阳性物质淀粉样物质在神经与肌肉中沉积.(3)基因检测发现10种点突变,其中E54Q点突变未见报道.(4)诊疗与转归:对全部患者予维生素营养神经治疗,3例近期予二氟尼柳治疗,5例于发病后3~6年死亡.结论 TTR-FAP呈现基因型和临床表型的多样性,经典的V30M型在我国可能不是优势类型.本组病例以早发型为主,部分患者进展迅速,可能与特定的基因突变类型有关.神经肌肉联合活检加转甲蛋白免疫组织化学染色可提供TTR-FAP组织学确诊证据.%Objective To investigate the clinical,electrophysiological,histopathological and genetic findings in patients with transthyretin (TTR)-associated familial amyloid polyneuropathy (FAP) (TTR-FAP) in China.Methods Familial or sporadic cases of TTR-FAP of Chinese Han orgin diagnosed at Peking Union Medical College Hospital in the past eight years (2006-2014) were

  19. Families in Transition .

    Science.gov (United States)

    Bundy, Michael L., Ed.; Gumaer, James, Ed.

    1984-01-01

    Focuses on disrupted families and the role of the school counselor in helping children adjust. Describes characteristics of healthy families, and discusses the transition to the blended family, effects of divorce groups on children's classroom behavior, counseling children in stepfamilies, single-parent families, and parenting strengths of single…

  20. Competitiveness of Family Businesses

    NARCIS (Netherlands)

    M.A.A.M. Leenders (Mark); E. Waarts (Eric)

    2001-01-01

    textabstractThe purpose of this study is to systematically examine the advantages and disadvantages of different types of family businesses. We distinguish four different types of family businesses based on their family and business orientation: (1) House of Business, (2) Family Money Machine, (3) F

  1. 扶正抗癌方对大鼠移植性肝癌PCNA、AgNORs表达的影响%Influence of Fuzheng Anti-carcinoma Prescription (FAP) on PCNA Expression and AgNORs in Rats with Implanted Hepatoma

    Institute of Scientific and Technical Information of China (English)

    韩克起; 凌昌全; 黄传继; 周利棠

    2003-01-01

    目的:探讨扶正抗癌方(简称FAP)对大鼠移植性肝癌增殖细胞核抗原(Proliferating Cell Nuclear Antigen简称PCNA)、核仁形成区嗜银蛋白(Argyrophil Nucleolus Organizer Regions简称AgNORs)表达的影响,研究其可能的抗肿瘤作用机制.方法:40只移植性肝癌模型大鼠随机分为生理盐水组(NS)及FAP组,每组20只,分别灌胃10天,测肿瘤组织PCNA表达及AgNORs计数水平.结果:NS组PCNA阳性表达为(31.42±16.18)%;AgNORs为2.69±0.54;而FAP组PCNA阳性表达为(19.18±10.32)%;AgNORs为1.98±0.67;两者相比,P<0.05.结论:FAP能降低荷瘤鼠瘤组织PCNA、AgNORs的表达,其抗肿瘤作用可能通过细胞周期的某一环节或通过阻止核糖体核酸基因(简称rDNA)的表达而得以发挥.

  2. Inside the Family Firm

    OpenAIRE

    Bennedsen, Morten; Nielsen, Kasper; Pérez-González, Francisco; Wolfenzon, Daniel

    2005-01-01

    This paper uses a unique dataset from Denmark to investigate (1) the role of family characteristics in corporate decision making, and (2) the consequences of these decisions on firm performance. We focus on the decision to appoint either a family or an external chief executive officer (CEO). We show that a departing CEO’s family characteristics have a strong predictive power in explaining CEO succession decisions: family CEOs are more frequently selected the larger the size of the family, the...

  3. Familial breast cancer.

    OpenAIRE

    Phipps, R. F.; Perry, P M

    1988-01-01

    Familial breast cancer is important because of all the known risk factors associated with developing the disease. The one with the most predictability is a positive family history. It is also important because a family history causes anxiety in the families concerned, and young women will often ask their chance of developing the disease. This form of breast cancer accounts for 10% of causes and has factors that distinguish it from the sporadic variety. Relatives of familial breast cancer pati...

  4. FAMILIES AND HEALTH INTERACTIONS

    OpenAIRE

    Zdanowicz, Nicolas; Lepièce, Brice; Tordeurs, David; Jacques, Denis; Janne, Pascal; Reynaert, Christine

    2011-01-01

    Background: In recent years, psychologists of health have attempted to understand the relations between family dynamics and health. The aim of our study is not only to study relations inside families and couples (relations between family of origin, nuclear and ideal family, current and ideal couple) but also outside between families and couples and different health indicator (physical and mental health, consumption of medications, and frequency of medical consultations). Subjects and methods:...

  5. Family Therapy for the "Truncated" Nuclear Family.

    Science.gov (United States)

    Zuk, Gerald H.

    1980-01-01

    The truncated nuclear family consists of a two-generation group in which conflict has produced a polarization of values. The single-parent family is at special risk. Go-between process enables the therapist to depolarize sharply conflicted values and reduce pathogenic relating. (Author)

  6. Strengthening Family Practices for Latino Families

    Science.gov (United States)

    Chartier, Karen G.; Negroni, Lirio K.; Hesselbrock, Michie N.

    2010-01-01

    This study examined the effectiveness of a culturally adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9- to 12-year-old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted…

  7. Loosely coupled class families

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    are expressed using virtual classes seem to be very tightly coupled internally. While clients have achieved the freedom to dynamically use one or the other family, it seems that any given family contains a xed set of classes and we will need to create an entire family of its own just in order to replace one...... of the members with another class. This paper shows how to express class families in such a manner that the classes in these families can be used in many dierent combinations, still enabling family polymorphism and ensuring type safety....

  8. Family Theory and Family Health Research: Understanding the family health and illness cycle

    OpenAIRE

    Doherty, William J.

    1991-01-01

    Different family theories can be applied to different aspects of how families experience health and illness. The family health and illness cycle describes the phases of a family's experience, beginning with health promotion and risk reduction, then family vulnerability and disease onset or relapse, family illness appraisal, family acute response, and finally family adaptation to illness and recovery. For each phase, specific family theories that are most appropriate for guiding family and hea...

  9. Xeroderma Pigmentosum - A Family

    Directory of Open Access Journals (Sweden)

    Garg Anush

    2000-01-01

    Full Text Available A family of xeroderma pigmentosum is reported. Four children of different ages were afflicted with varying clinical presentation. Sequential development and progression of the disease from freckling to malignancy within the family are discussed.

  10. Xeroderma Pigmentosum - A Family

    OpenAIRE

    Garg Anush; Singhi M.K

    2000-01-01

    A family of xeroderma pigmentosum is reported. Four children of different ages were afflicted with varying clinical presentation. Sequential development and progression of the disease from freckling to malignancy within the family are discussed.

  11. Importance of Family Routines

    Science.gov (United States)

    ... Listen Español Text Size Email Print Share The Importance of Family Routines Page Content ​Every family needs ... child to sleep. These rituals can include storytelling, reading aloud, conversation, and songs. Try to avoid exciting ...

  12. Resilience of refugee families

    Directory of Open Access Journals (Sweden)

    Batić Dragana

    2012-01-01

    Full Text Available This study attempted to find a correlation between the trauma of family members of war and exile, and the characteristics of family functioning and lasted from 1992-1995. The term “family resilience” refers to the processes of adaptation and coping in the family as a functional unit. This paper presents a study of refugee families from Bosnia, who lived in refugee camps in Macedonia during the war of 1992- 1995. Data were obtained by interviews, observations, and a number of psychological instruments especially for children and parents, which measured the effects of psychological stress and family relationships. Based on the results obtained by quantitative and qualitative analysis, and application of theoretical models of systemic theory and family therapy, existence for four types of refugee families has been found and described, depending on the structure and the level of functionality.

  13. Family Caregiver Alliance

    Science.gov (United States)

    ... path forward. Discover ways to survive, post-caregiving. >> FAMILY CARE NAVIGATOR ─ Click on Your State AL AK ... our Advanced Search FCA Blog A Complex Web: Family Caregiving and Healthcare [Editor's note: This blog was ...

  14. Assessing postpartum family functioning.

    Science.gov (United States)

    Midmer, D; Talbot, Y

    1988-09-01

    The birth of a child requires adaptation and reorganization within the family system in order to accommodate the new family member and to allow the family to continue in its psychosocial development. Knowledge of the normative and transitional changes required at this stage of family life will enhance family practitioners' understanding of some of the common concerns and complaints related to them by various family members during the postpartum period. The Family FIRO model represents a helpful conceptual framework to increase the family physician's understanding of the issues of inclusion, control, and intimacy that are highlighted during the transition to parenthood. The authors briefly present this model and discuss its application to postpartum adjustment and its implications for health-care professionals.

  15. Family Patterns in Dogmatism

    Science.gov (United States)

    Lesser, Harvey; Steininger, Marion

    1975-01-01

    Explored Rokeach's theory that dogmatism develops within the family. Subjects were college students and their parents who took the 40-item Dogmatism Scale. Results indicated that family experiences are one source of children's dogmatism but not the only source. (SDH)

  16. Familial lipoprotein lipase deficiency

    Science.gov (United States)

    ... medlineplus.gov/ency/article/000408.htm Familial lipoprotein lipase deficiency To use the sharing features on this page, please enable JavaScript. Familial lipoprotein lipase deficiency is a group of rare genetic disorders ...

  17. National Military Family Association

    Science.gov (United States)

    ... 931.6632 info@MilitaryFamily.org © 2016 - National Military Family Association Twitter Facebook Pinterest Instagram Charity Navigator Four Star Charity GuideStar Exchange Better Business Bureau Charity Watch Independent Charity of America nonprofit ...

  18. IGSF9 Family Proteins

    DEFF Research Database (Denmark)

    Hansen, Maria; Walmod, Peter Schledermann

    2013-01-01

    The Drosophila protein Turtle and the vertebrate proteins immunoglobulin superfamily (IgSF), member 9 (IGSF9/Dasm1) and IGSF9B are members of an evolutionarily ancient protein family. A bioinformatics analysis of the protein family revealed that invertebrates contain only a single IGSF9 family gene......, the longest isoforms of the proteins have the same general organization as the neural cell adhesion molecule family of cell adhesion molecule proteins, and like this family of proteins, IGSF9 family members are expressed in the nervous system. A review of the literature revealed that Drosophila Turtle...... facilitates homophilic cell adhesion. Moreover, IGSF9 family proteins have been implicated in the outgrowth and branching of neurites, axon guidance, synapse maturation, self-avoidance, and tiling. However, despite the few published studies on IGSF9 family proteins, reports on the functions of both Turtle...

  19. MSUD Family Support Group

    Science.gov (United States)

    ... Group The MSUD Family Support Group is a non-profit 501 (c)(3) organization for those with MSUD ... Family Support Group is a 501(c)(3) non-profit organization with no paid staff. Funds are needed ...

  20. Succession in Family Business

    OpenAIRE

    Zheng, Ting

    2009-01-01

    Abstract In the development of the world’s enterprises, family enterprises always have a very important role. And the succession problem is also related with the development of the family business deeply. So the succession problem is always the hot topic among the management scholars. How to deal with succession in family business issues will be directly related to the continuing operations of enterprises. Nowadays, Chinese family businesses enter the peak time of succession. Analysis of ...

  1. Internationalization of Family Businesses

    DEFF Research Database (Denmark)

    Boyd, Britta; Hollensen, Svend; Goto, Toshio

    2010-01-01

    This article focuses on the international joint venture formation process of family businesses. The reasoning behind Danfoss’ decision to cooperate with two competing family businesses in Japan and China as well as two nonfamily businesses in Canada and Britain will be analysed. In...... the formation process including competences and cultures. The study indicates what core competences of a family business matter when cooperating in equal split joint ventures. Implications for family business owners and ideas for future research are discussed....

  2. Family Policy in France

    OpenAIRE

    Fagnani, Jeanne

    2006-01-01

    Over the last two decades, contrary to the pension system, the family policy branch of the Social security system has been immune to cutbacks in provision and no retrenchment measures have been implemented. This mirrors the salience of family-related issues in the social and political agenda. This also reflects the fact that the family branch and its large network of Local Allowance Funds (CAFs) are responsible for the management of welfare state provisions. The family branch is a transfer-he...

  3. Genetics of familial melanoma

    DEFF Research Database (Denmark)

    Aoude, Lauren G; Wadt, Karin A W; Pritchard, Antonia L;

    2015-01-01

    Twenty years ago, the first familial melanoma susceptibility gene, CDKN2A, was identified. Two years later, another high-penetrance gene, CDK4, was found to be responsible for melanoma development in some families. Progress in identifying new familial melanoma genes was subsequently slow; however...

  4. Family systems and fertility

    NARCIS (Netherlands)

    Moenkediek, Bastian

    2016-01-01

    This thesis studies the role of regional family organization principles, so called family systems, for explaining fertility behaviours in different parts of Europe. Studying family systems and its impact on fertility is important, because many aspects of societal life, such as the organization of we

  5. Families in Transition.

    Science.gov (United States)

    Britton, Patti O., Ed.; McGee, Michael, Ed.

    1987-01-01

    This issue of "Emphasis" deals with families in transition, providing some model programs for the new family and some historical perspectives on how families have developed over time. Articles include: (1) "Nostalgia on the Right" (Nancy Theriot); (2) "Heart to Heart" (Nancy Harrington-MacLennan); (3) "The Media Get the Message" (Janet Alyn); (4)…

  6. Strengths of Remarried Families.

    Science.gov (United States)

    Knaub, Patricia Kain; And Others

    1984-01-01

    Focuses on remarried families' (N=80) perceptions of family strengths, marital satisfaction, and adjustment to the remarried situation. Results indicated that although most would like to make some changes, scores on the measurements used were high. A supportive environment was the most important predictor of family strength and success. (JAC)

  7. Single Mothers "Do" Family

    Science.gov (United States)

    Nelson, Margaret K.

    2006-01-01

    This paper explores how single mothers both incorporate others into family life (e.g., when they ask others to care for their children) and simultaneously "do families" in a manner that holds out a vision of a "traditional" family structure. Drawing on research with White, rural single mothers, the author explores the manner in which these women…

  8. Effect of sildenafil citrate (Viagra) on erectile dysfunction in a patient with familial amyloidotic polyneuropathy ATTR Val30Met.

    Science.gov (United States)

    Obayashi, K; Ando, Y; Terazaki, H; Yamashita, S; Nakagawa, K; Nakamura, M; Yamashita, T; Suga, M; Ishizaki, T; Uchino, M; Ando, M

    2000-04-12

    A 34-year-old male patient with familial amyloidotic polyneuropathy (FAP) amyloidogenic transthyretin (ATTR) Valine30Methionine (Val30Met), who underwent a liver transplantation in Sweden in 1994, was treated with sildenafil citrate (Viagra) to ameliorate his erectile dysfunction (ED). Some clinical symptoms and the examination data for autonomic functions were improved after liver transplantation, but ED was never improved after the operation. Five years after liver transplantation, he requested a sildenafil citrate therapy to enhance his erectile potential. One and a half hours after the administration of 25 mg of sildenafil citrate, the skin surface temperature around the pelvic area increased and the penis became erect, though the postdose hemodynamic parameters did not significantly change from the respective baseline or predose values. He was able to have sexual intercourse, though ejaculation did not occur. This case report appears to suggest that sildenafil citrate is an effective drug to treat ED in patients with an organic impairment of the autonomic nervous system without altering systemic circulation.

  9. Asteroid family ages

    CERN Document Server

    Spoto, Federica; Knezevic, Zoran

    2015-01-01

    A new family classification, based on a catalog of proper elements with $\\sim 384,000$ numbered asteroids and on new methods is available. For the $45$ dynamical families with $>250$ members identified in this classification, we present an attempt to obtain statistically significant ages: we succeeded in computing ages for $37$ collisional families. We used a rigorous method, including a least squares fit of the two sides of a V-shape plot in the proper semimajor axis, inverse diameter plane to determine the corresponding slopes, an advanced error model for the uncertainties of asteroid diameters, an iterative outlier rejection scheme and quality control. The best available Yarkovsky measurement was used to estimate a calibration of the Yarkovsky effect for each family. The results are presented separately for the families originated in fragmentation or cratering events, for the young, compact families and for the truncated, one-sided families. For all the computed ages the corresponding uncertainties are pro...

  10. [Familial pituitary tumors].

    Science.gov (United States)

    Yoshimoto, K; Saito, S

    1995-11-01

    Familial pituitary tumors are relatively rare. Most commonly, they occur as a part of multiple endocrine neoplasia type 1 (MEN 1). However, familial pituitary adenomas unrelated MEN 1 (familial pituitary adenomas) are extremely rare. In review of MEN 1 in Japan, 60% of the patients with MEN 1 had pituitary tumors. Only 45 cases of familial pituitary adenomas have been reported from 20 families. In our review of familial pituitary adenomas, 30 (67%) of 45 reported cases are acromegaly or gigantism. This incidence is much higher than 28% in MEN 1 patients with pituitary tumors. Allelic deletions at 11q13 were identified in MEN 1 associated pituitary adenomas and familial pituitary adenomas in two gigantism brothers. PMID:8538028

  11. Inside the Family Firm

    DEFF Research Database (Denmark)

    Bennedsen, Morten; Nielsen, Kasper; Pérez-González, Francisco;

    2005-01-01

    This paper uses a unique dataset from Denmark to investigate (1) the role of family characteristics in corporate decision making, and (2) the consequences of these decisions on firm performance. We focus on the decision to appoint either a family or an external chief executive officer (CEO). We...... show that a departing CEO's family characteristics have a strong predictive power in explaining CEO succession decisions: family CEOs are more frequently selected the larger the size of the family, the higher the ratio of male children and when the departing CEOs had only had one spouse. We...... then analyze the impact of family successions on performance. We overcome endogeneity and omitted variables problems of previous papers in the literature by using the gender of a departing CEO's first-born child as an instrumental variable (IV) for family successions. This is a plausible IV as male first...

  12. Family governance practices and teambuilding : Paradox of the enterprising family

    NARCIS (Netherlands)

    Berent-Braun, M.M.; Uhlaner, L.M.

    2012-01-01

    This paper explores the relationship between family governance practices and financial performance of the business and family assets of business-owning families. A business-owning family that shares a focus on preserving and growing wealth as a family is defined as the enterprising family. Results o

  13. Myth of the Perfect Family

    Science.gov (United States)

    ... together fulfill the multiple responsibilities of family life. MYTH: The "Nuclear Family" Is A Universal Phenomenon The ... members and in progressive fragmentation of the family. MYTH: Family Harmony Is The Rule, Not The Exception ...

  14. Administration for Children and Families

    Science.gov (United States)

    ... Releases RSS Feeds Speeches Videos What is the Administration for Children & Families? The Administration for Children and Families (ACF) is a division ... more about the 100-day challenge Visit the Administration on Children, Youth and Families Website The Family ...

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

    DEFF Research Database (Denmark)

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

    2010-01-01

    with presumed AFAP, defined as having /= 25. Results. One hundred and ninety six patients were included. The median number of adenomas was 25 (0-100) with a uniform distribution of colorectal adenomas and carcinomas (CRC). Age at CRC diagnosis was delayed by 15 years compared with classic FAP. Eighty two...... patients had a colectomy and an ileorectal anastomosis (IRA) and 5/82 (6%) had a secondary proctectomy. The location of the mutation in the APC gene was known in 69/171 (40%) tested patients. Only 15/29 (52%) of mutations in APC were found in parts of the gene usually associated with AFAP (the 5' end, exon...... 9 and 3' end). Conclusions. A subset of FAP patients with a milder phenotype does exist and treatment and surveillance should be modified accordingly. The mutation detection rate is lower than in classic FAP and mutations in AFAP patients are located throughout the APC gene. We propose the following...

  16. 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...

  17. Familial germ cell tumor

    Directory of Open Access Journals (Sweden)

    Sanju Cyriac

    2012-01-01

    Full Text Available Familial testicular germ cell tumors are well known in literature. Only few cases are reported where both brother and sister of the same family suffered from germ cell malignancies. We present a family where the proband is a survivor of ovarian dysgerminoma stage IA. Her elder male sibling became acutely ill and was detected to have disseminated testicular malignancy with grossly elevated markers and vegetations in the mitral valve leaflets. Despite all measures he could not be saved. Presence of germ cell malignancies in the siblings of different sex in the same family points toward a genetic susceptibility. Literature review revealed only six similar cases. A discussion regarding the rare occurrence of familial germ cell malignancies with the affected family members may be worthwhile.

  18. Family business entrepreneurship

    OpenAIRE

    Wright, Mike; De Massis, Alfredo; Scholes, Louise; Hughes, Mat; Kotlar, Josip

    2016-01-01

    This report investigates the depth and nature of entrepreneurship and innovation in family firms. It sets out the findings and recommendations from new research into the entrepreneurial orientation of private family firms in the UK, the drivers of this orientation, and the impact this has on innovation activity and financial performance. The project has been funded by the Institute for Family Business Research Foundation and conducted by researchers from three UK business schools – Imperial C...

  19. The family lecture.

    Science.gov (United States)

    Rose, Nancy E

    2002-10-01

    SUMMARY This paper describes a lecture about my extended family, in which I discuss a variety of configurations consisting of lesbian, gay, and bisexual adults, and our children. It raises an array of issues, including alternative insemination, biological and nonbiological parentage, donors and birthmothers, adoption, co-parenting and blended families, significant others, and gay marriage and domestic partnership. It helps many students obtain both a more expansive sense of family and adeeper understanding of homophobia. PMID:24804601

  20. Familial germ cell tumor

    OpenAIRE

    Sanju Cyriac; Rejeev Rajendranath; A. Robert Louis; Sagar, T. G.

    2012-01-01

    Familial testicular germ cell tumors are well known in literature. Only few cases are reported where both brother and sister of the same family suffered from germ cell malignancies. We present a family where the proband is a survivor of ovarian dysgerminoma stage IA. Her elder male sibling became acutely ill and was detected to have disseminated testicular malignancy with grossly elevated markers and vegetations in the mitral valve leaflets. Despite all measures he could not be saved. Presenc...

  1. Immigrant Families in Australia

    OpenAIRE

    Jock Collins

    1992-01-01

    Australia has a larger and more diverse immigrant population than most Western societies. Australia's immigration history is linked to the story of family migration as Australia sought immigrants for permanent settlement. However, it is important to aviod over-generalisation when studying immigrant families in Australia today. The main hypothesis is that in order to understand the immigrant family in Australia today it is necessary to study the intersection of factors such as ethnicity, class...

  2. KSF of family business

    OpenAIRE

    Boroš, Petr

    2014-01-01

    Family business is a business in which family members have a large stake in ownership and also a deciding vote on business operation. This thesis deals with what makes the family businesses thriving. The research is conducted using the Good to Great framework by Jim Collins. Based mainly on quantitative and qualitative survey of 8 Czech companies of various fields and sizes, it was discovered that there are some links between the companies' success. These findings yield a set of recommendatio...

  3. Continuous family groupoids

    OpenAIRE

    Paterson, Alan L. T.

    2007-01-01

    In this paper, we define and investigate the properties of continuous family groupoids. This class of groupoids is necessary for investigating the groupoid index theory arising from the equivariant Atiyah-Singer index theorem for families, and is also required in noncommutative geometry. The class includes that of Lie groupoids, and the paper shows that, like Lie groupoids, continuous family groupoids always admit (an essentially unique) continuous left Haar system of smooth...

  4. Familial combined hyperlipidemia

    Science.gov (United States)

    Multiple lipoprotein-type hyperlipidemia ... Familial combined hyperlipidemia is the most common genetic disorder that increases blood fats. It can cause early heart attacks. Diabetes , alcoholism, ...

  5. Family in contemporary society

    Directory of Open Access Journals (Sweden)

    Rabije Murati

    2016-01-01

    Full Text Available The family is part of social change and, as such changes and transform into steps with modern trends of society. Family function in a given society is structured according to the overall changes that occur in all areas of social life, not neglecting family life. The contemporary conditions impose requirements that must be met to move forward with the times that follow. In particular, should highlight the social changes that are related to the growth and advancement of the educational and professional standards, which will increase the overall impact on the family and its function. If you're looking for full responsibility of parents in the upbringing of children then it is necessary to see the conditions in which the family lives. For normal education and the rights of children with special meaning the number of members in the (quantity family. The tendency to a higher standard of economic life, a small number of children in the family and it is more than obvious that fewer family members or less have greater opportunity for parents to pay more attention to their children. One of the main roles of family, no matter where they are located in the city, village, developed or developing countries, by all means participate, intermediates and transfers the moral, social and other values in modern life.

  6. Student and Teacher Perceptions of School Involvement and Their Effect on Multicultural Education: A Catalonian Survey

    Science.gov (United States)

    Oller, Judith; Vila, Ignasi; Zufiaurre, Benjamin

    2012-01-01

    In multilingual schools students have diverse identities, cultural backgrounds, perceptions, capacities and linguistic experiences. The space for teaching and learning is also mediated by stereotypes and prejudices associated with this diversity. Diversity, stereotypes and prejudices shape how teachers and learners operate in a world of complex…

  7. Familial Myeloma: Study of a Unique Family

    OpenAIRE

    Lynch, Henry T; Ferrara, Kelly; Barlogie, Bart; Coleman, Elizabeth A.; Lynch, Jane F.; Weisenburger, Dennis; Sanger, Warren; Watson, Patrice; Nipper, Henry; Witt, Vinetta; Thomé, Stephan

    2008-01-01

    We describe a family with five cases of multiple myeloma , three cases of monoclonal gammopathy of undetermined significance (MGUS), and five cases of prostate cancer in two generations. The putative progenitor has progeny with prostate cancer, multiple myeloma, and MGUS with two separate female partners.

  8. Strengthening Families: Exploring the Impacts of Family Camp Experiences on Family Functioning and Parenting

    Science.gov (United States)

    Garst, Barry A.; Baughman, Sarah; Franz, Nancy K.; Seidel, Richard W.

    2013-01-01

    Research suggests that family camp experiences can enhance family relationships. Families often participate in family camp experiences for a vacation, as part of a therapeutic and/or intervention strategy, or to gain general enrichment or engagement. To better understand the impacts of family camp experiences on family functioning, a mixed-methods…

  9. Closure Issues with Families.

    Science.gov (United States)

    Craig, Steven E.; Bischof, Gary H.

    Closure of the counseling relationship constitutes both an ending and a beginning. Although closure signifies the ending of the present counseling relationship, many family counselors conceptualize closure as the start of a working relationship between counselor and family that may be summoned in future times of crisis or during a difficult life…

  10. Selecting Family Interventions.

    Science.gov (United States)

    Watts, Richard E.

    Just as counseling approaches designed for individuals have their theory-specific techniques, family counseling approaches also have theory-specific interventions and strategies. Whatever presenting problem the family brings to counseling, one or more of four essential components (communication, problem solving, roles and boundaries) is typically…

  11. America's Family Time Famine.

    Science.gov (United States)

    Mattox, Jr., William R.

    1990-01-01

    Parents spend increasingly less time with their children because of the pressures of dual careers and single parenthood. Economic pressures and social values have affected sharing of family time. Studies show both parents and children consider spending time together the most important element in improving family life. (BC)

  12. Family Bonding with Universities

    Science.gov (United States)

    Meer, Jonathan; Rosen, Harvey S.

    2010-01-01

    One justification offered for legacy admissions policies at universities is that that they bind entire families to the university. Proponents maintain that these policies have a number of benefits, including increased donations from members of these families. We use a rich set of data from an anonymous selective research institution to investigate…

  13. Helping Friends and Family

    Science.gov (United States)

    ... chapter Join our online community Helping Friends and Family Part of living well with Alzheimer’s is adjusting to your “new normal” and helping family and friends do the same. Knowing what to ...

  14. Privacy in the family

    NARCIS (Netherlands)

    Newell, Bryce; Metoyer, Cheryl A.; Moore, Adam D.

    2015-01-01

    Popular access to increasingly sophisticated forms of electronic surveillance technologies has altered the dynamics of family relationships. Monitoring, mediated and facilitated by practices of both covert and overt electronic surveillance, has changed the nature of privacy within the family. In thi

  15. Assessment of Troubled Families.

    Science.gov (United States)

    Combs-Orme, Terri; Thomas, Katherine H.

    1997-01-01

    Tests the utility of four standardized instruments used in assessing 105 families that sought services in a juvenile corrections setting for their teenage children. Results demonstrate that parents and adolescents can complete standardized assessment instruments and that the information provided can help in understanding distressed families. (RJM)

  16. Marriage or Family Therapy.

    Science.gov (United States)

    Haley, Jay

    1984-01-01

    Reviews the differences between family therapy and marriage counseling in terms of professional organization, theory, and practice. Suggests that training in marriage therapy does not appear adequate for family therapy. The goal of the therapy field should be more consensus in theory and a single profession of therapists. (JAC)

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

    Institute of Scientific and Technical Information of China (English)

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

    2010-01-01

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

  18. Familial malignant melanoma

    Energy Technology Data Exchange (ETDEWEB)

    Kopf, A.W.; Hellman, L.J.; Rogers, G.S.; Gross, D.F.; Rigel, D.S.; Friedman, R.J.; Levenstein, M.; Brown, J.; Golomb, F.M.; Roses, D.F.; Gumport, S.L.

    1986-10-10

    Characteristics associated with familial compared with nonfamilial malignant melanoma were assessed. These data were obtained from consecutive prospectively completed questionnaires on 1169 cases of cutaneous malignant melanoma. Of these, 69 patients indicated a positive family history for this cancer. Among the various clinical and histological variables compared, those that significantly correlated with the familial occurrence of malignant melanoma include younger age at first diagnosis, smaller diameter of the lesion, lower Clark level, decreased frequency of nonmelanoma skin cancer, and reduced prevalence of noncutaneous cancer. Increased awareness of malignant melanoma among family members could account for some of these observations. Identification of the familial variety of malignant melanoma has practical implications concerning early detection and prompt intervention.

  19. 75 FR 17946 - Family Report, MTW Family Report

    Science.gov (United States)

    2010-04-08

    ... URBAN DEVELOPMENT Family Report, MTW Family Report AGENCY: Office of the Chief Information Officer, HUD... understand demographic, family profile, income, and housing information for participants in the Public... Following Information Title of Proposal: Family Report, MTW Family Report. OMB Approval Number:...

  20. Family Stress, Resources, and Family Types: Chronic Illness in Children.

    Science.gov (United States)

    McCubbin, Marilyn A.

    1988-01-01

    Measured family stress, resources, parental coping, and family types in families who had a child with myelomeningocele. Determined the relationships between the family characteristics, the child's health status, and number of active health problems based on level of impairment. Demonstrated an increasing level of family system involvement…

  1. 皮肤红唇复合三角瓣并口轮匝肌功能性修复在先天性唇裂红唇整复中的应用%The application of composite skin-vermilion triangle fap and functional reposition of orbicularis muscle in congenital cleft lip

    Institute of Scientific and Technical Information of China (English)

    韦强; 徐思达; 陈石海; 刘庆丰; 廖明德

    2013-01-01

    目的 探讨更为理想的先天性唇裂红唇修复方法.方法 2010年3月至2013年1月,应用皮肤红唇复合三角瓣并口轮匝肌功能性修复的方法,对68例先天性唇裂患者行红唇整复及唇珠再造.结果 68例患者红唇部切口一期愈合,术后随访46例,时间为3个月至1年,其中8例有裂隙两侧红唇厚薄不均、唇珠偏歪的表现,其余病例唇弓线、唇吻线连续性良好,形态对称,唇珠外翘、饱满,位置适中.结论 口轮匝肌的精确复位是红唇整复及唇珠再造的关键,本方法设计简单、合理,可以很好地修复红唇.%Objective To investigate the ideal method for correction of vermilion deformity in congenital cleft lip.Methods From Mar.2010 to Jan.2013,68 cases with congenital cleft lip underwent vermilion deformities correction with composite skin-vermilion triangle fap and functional reposition of orbicularis oris muscle.Results Primary healing was achieved in all the patients.46 cases were followed up for 3 months to one year.Asymmetric thickness of vermilion and tubercle malposition happened in 8 cases.All the other patients had a satisfactory result with symmetric and fluent cupid' s bow and everting tubercle.Conclusion Well reposition of orbicularic oris muscle is key for correction of vermilion deformity and tubercle reconstruction.This technique is very simple and practical.

  2. Gender and family stability

    Directory of Open Access Journals (Sweden)

    2001-02-01

    Full Text Available The increasing trend of partnership disruption among families with children in recent decades has been accompanied by substantial changes in traditional gender roles in industrialized countries. Yet, relatively little is known about the effects of changing gender relations on family stability in the European context. In this paper, we study such gender influences at the familial and societal level in Sweden and Hungary between the mid-1960s and the early 1990s. We focus on the disruption of the first parental union (i.e. the union in which a couple's first child was born. Our analysis is based on data extracted from the Swedish and Hungarian Fertility and Family Surveys of 1992/93. We use the method of hazard regression. The results suggest (i that the establishment of the dual-earner family model influences family stability only if it is accompanied by some changes in traditional gender relations within the family, and (ii that women's and men's labor-market behavior have different effects in spite of the relatively long history of women's (also mothers' labor-force participation in both Sweden and Hungary.

  3. Revolution and family in rural China: influence of family background on current family wealth

    OpenAIRE

    SATO, Hiroshi; Shi, Li

    2007-01-01

    This paper examines the influence of family human capital on offspring's economic status in post reform rural China by concentrating on the father-son relationship. We focus on two indicators of family background: family class origin (jiating chengfen) and occupational experience. The results of a family wealth function for 2002 suggest that, after controlling for other individual and family characteristics, both measures of family background have a significant influence on family wealth. Fir...

  4. Family Structure and Social Influence.

    Science.gov (United States)

    Olson, Dawn R.

    Regardless of family form, there is a universal belief that one's family is the most powerful agent of socialization. A sample of 38 junior high school students from single parent and nuclear families completed a questionnaire in order to examine the relative effects of peer influence and family influence in single parent and nuclear families.…

  5. The contribution of familiness to the performance of family businesses

    Directory of Open Access Journals (Sweden)

    W. P. Venter

    2004-12-01

    Full Text Available While family businesses are known to consistently outperform non-family businesses in financial terms over the long run, family businesses have received comparatively little attention from researchers. In this article an explanation is offered for this superior performance in the form of the concept of "familiness" - the unique contribution that family involvement brings to any business (which is divided into founder capital and family capital. It is explained that family businesses possess no general competitive advantage over non-family businesses. The unique strength of successful family businesses does not lie in their espoused advantages, but in their ability to sustain and adapt, through family capital, the culture created by the founder. An evolutionary conceptual model of the creation and transmission of familiness is provided to explain how this unique strength influences family business performance over the long run.

  6. The family as consumer

    OpenAIRE

    Grønhøj, Alice

    2005-01-01

    Studier af familien som forbruger er underrepræsenteret i forbrugeradfærdsforskningen. I betragtning af den betydning familiers økonomiske adfærd har for virksomheder, samfundsøkonomien og natur/miljø, kan den forholdsvis sparsomme forskningsmæssige interesse for at forbedre vores viden om betingelserne for familiers forbrugeradfærd undre. I artiklen argumenteres indledningsvis for relevansen af at beskæftige sig med familiers forbrugeradfærd. Herefter skitseres udviklingen i denne specielle ...

  7. The Family Saprospiraceae

    DEFF Research Database (Denmark)

    McIlroy, Simon Jon; Nielsen, Per Halkjær

    2014-01-01

    The Saprospiraceae, a family within the order Sphingobacteriales and the phylum Bacteroidetes, embrace the genera Saprospira, Lewinella, Haliscomenobacter, Aureispira, ‘‘Rubidimonas,’’ and ‘‘Portibacter.’’ The composition of the family, and delineation of genera and species, is largely defined...... associated with predation of other bacteria and algae. Family members are likely important in the breakdown of complex organic compounds in the environment. Such a role is at least demonstrated in situ for activated sludge wastewater treatment systems where these organisms are frequently observed...

  8. Non-family Executives in Family Businesses : a Literature Review

    OpenAIRE

    Klein, Sabine; Bell, Franz-Albert

    2007-01-01

    The role of non-family executives in family businesses is under-researched in comparison with its importance. Reviewing the existing literature serves as a startingpoint for promoting future research. Based on a literature analysis, we develop a model for the interaction process between a family owner and a non-family executive. The main contributions for the non-family executive in family business literature are presented and structured following this interaction process. Fina...

  9. Family and non-family business differences in Estonia

    Directory of Open Access Journals (Sweden)

    Maret Kirsipuu

    2014-01-01

    Full Text Available This paper seeks to identify differences between family enterprises and non-family enterprises. The concepts of entrepreneurship, entrepreneur and enterprise/business are clarified. The paper contains the results of research conducted by the author among family entrepreneurs in 2007–2012 that can be compared to the research results reached by Wahl (2011. This research demonstrates that there are differences between family entrepreneurs and non-family entrepreneurs, which are primarily caused by that family entrepreneurs value first of all their family members, family traditions and only then profit earning.

  10. Everyday Family Life

    DEFF Research Database (Denmark)

    Westerling, Allan

    2010-01-01

    project takes a social psychological approach, combining quantitative and qualitative methods in a longitudinal study of family life. The knowledge interest of the project is the constitution of communality and individuality in everyday family life. This article presents the theoretical framework...... and the conceptualization of everyday family life of the social psychological research agenda in this field. The main line of argument is that ongoing modernization is synonymous with accelerated processes of detraditionalization and individualization. This calls for a re-conceptualisation of ‘the family’ which enables...... researchers to grasp both continuity and change. The article refers to everyday life studies and social psychology and argues that the term ‘family life’ my serve as one stepping stone for transgressing the dichotomy. Furthermore the article unfolds the implications of this framework for the research design...

  11. The Family Startup Program

    DEFF Research Database (Denmark)

    Trillingsgaard, Tea; Maimburg, Rikke Damkjær; Simonsen, Marianne

    2015-01-01

    Background: Inadequate parenting is an important public health problem with possible severe and long-term consequences related to child development. We have solid theoretical and political arguments in favor of efforts enhancing the quality of the early family environment in the population at large....../design: Participants will be approximately 2500 pregnant women and partners. Inclusion criteria are parental age above 18 and the mother expecting first child. Families are recruited when attending routine pregnancy scans provided as a part of the publicly available prenatal care program at Aarhus University Hospital...... and community resources. The program consists of twelve group sessions, with nine families in each group, continuing from pregnancy until the child is 15 months old. TAU is the publicly available pre- and postnatal care available to families in both conditions. Analyses will employ survey data, administrative...

  12. Familial trigeminal neuralgia.

    Directory of Open Access Journals (Sweden)

    Gupta V

    2002-01-01

    Full Text Available Familial trigeminal neuralgia is infrequent. A report of a couple and their son being afflicted by this malady is presented. The clinical features, radiological findings and surgical management are discussed and literature reviewed.

  13. Asbestos: Protect Your Family

    Science.gov (United States)

    ... Facebook Twitter Google+ Pinterest Contact Us Protect Your Family How to Identify Materials That May Contain Asbestos ... Improper removal may actually increase your and your family’s exposure to asbestos fibers. Top of Page Asbestos ...

  14. Families in the Military

    Science.gov (United States)

    ... Families Guide - Search No. 88; March 2011 Global conflict and unrest have led to deployment of large ... physical complaints, or thumb sucking. They may personalize situations and express a fear that, “Daddy left because ...

  15. General Dynamics Atlas family

    Science.gov (United States)

    Oates, James

    Developments concerning the Atlas family of launch vehicles over the last three or four years are summarized. Attention is given to the center of gravity, load factors, acoustics, pyroshock, low-frequency sinusoidal vibration, and high-frequency random vibration.

  16. Family Demands, Social Support and Family Functioning in Taiwanese Families Rearing Children with Down Syndrome

    Science.gov (United States)

    Hsiao, C-Y.

    2014-01-01

    Background: Down syndrome (DS) affects not only children but also their families. Much remains to be learned about factors that influence how families of children with DS function, especially families in non-Western populations. The purpose of this cross-sectional, correlational study was to examine how family demographics, family demands and…

  17. WOMEN IN FAMILY BUSINESS

    OpenAIRE

    Mr Anshu

    2012-01-01

    The role of women in family businesses is explored in the paper. Although recognized as generally very important players, the role of women is often defined as invisible in business decision-making, supportive in men’s traditional business domains and only rarelyadequately recognized and rewarded. The paper explores possible differences in the views of men and women who manage small family firms. Their attitudes opposing the traditional business roles ofwomen, different views on managerial, o...

  18. Increase in family allowances.

    Science.gov (United States)

    1989-01-01

    In July 1989 the family allowance structure in Australia was changed from a 4-rate to a 2-rate structure. The new rates were increased to $A9 a week for the 1st 3 children and $A12 for each additional child. The Family Allowance Supplment rate for children 13-15 years old was raised from $A31 to $A34.10/week. PMID:12344544

  19. Maintenance of family networks

    DEFF Research Database (Denmark)

    marsico, giuseppina; Chaudhary, N; Valsiner, Jaan;

    2015-01-01

    Families are social units that expand in time (across generations) and space (as a geographically distributed sub-structures of wider kinship networks). Understanding of intergenerational family relations thus requires conceptualization of communication processes that take place within a small...... and India will be analyzed to arrive at a general model of the role of peripheral communication as the core of intergenerational value transfer processes....

  20. Fixpoints vs Moore Families

    DEFF Research Database (Denmark)

    Zhang, Fuyuan; Nielson, Flemming; Nielson, Hanne Riis

    2012-01-01

    of a CTL formula can be described as the least element in a Moore family of acceptable sets of states for the static analysis. Turning the attention to the μ-calculus we are able to generalise this result to the alternation-free fragment whereas even for the fragment of alternation depth 2 we show...... that the fixed point characterisation cannot be recast as a Moore family property....

  1. Rethinking Market and Family

    OpenAIRE

    Hara, Nobuko

    2004-01-01

    This essay examines on the New Household Economics' view of the family (focusing in particular on household organization and intra-household decision-making) from the methodological point of view. It emphasises upon the fact that feminist neo-classical economics, which applies the feminist perspective to an existing economic theory or seeks to improve neo-classical theory by removing its male bias, gives rise to change in the methodological framework of New Household Economics. The family is...

  2. Family studies in glaucoma.

    OpenAIRE

    Rosenthal, A R; Perkins, E S

    1985-01-01

    Two groups of patients with a family history of chronic open-angle glaucoma were compared with a normal population of 5919 individuals studied during the Bedford Glaucoma Survey. The mean screening intraocular pressure was significantly raised in both groups with a family history of chronic open-angle glaucoma. The prevalence rate of a raised intraocular pressure was 3.81 times that found in the normal population. This relationship was maintained when age-dependent prevalence rates were evalu...

  3. 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....

  4. Familial distal dysautonomia.

    OpenAIRE

    Robinson, B; Johnson, R.; Abernethy, D; Holloway, L

    1989-01-01

    A patient is described who presented with painful feet on exercise. He had no evidence of peripheral vascular disease but did have anhidrosis and failure of vasodilatation in the hands and feet suggesting peripheral dysautonomia. Examination of his mother and a cousin and clinical histories of blood relatives suggested that his problem was a severe presentation of a familial distal dysautonomia. In other family members this was represented by dry hands and feet and variable vasomotor symptoms...

  5. New members of Datura family

    CERN Document Server

    Rosaev, Alexey

    2015-01-01

    The problem of origin and age of asteroid families is studied very intensively. Youngest families are most interesting due to possibility of the reconstruction collisional history. Here we report about three new members of Datura Family

  6. [Apothecaries' arms of Voltaire's family].

    Science.gov (United States)

    Chaigneau, M

    1998-01-01

    Apothecaries of Voltaire's family can be divided into two groups. Marceton Family: Claude Marceton, Hierosme and Pierre Testefolle, from Thouars. Arouet family: Jehan Arouet, Pierre Rochard and Jean Gougeard. Five of those apothecaries beand arms. PMID:11625327

  7. Familial gastric cancer

    Directory of Open Access Journals (Sweden)

    Bresciani Cláudio

    2003-01-01

    Full Text Available BACKGROUND: Familial aggregation of gastric cancer has pointed out to a possible hereditary and genetic factor involved in the carcinogenesis of this disease. The diffuse type gastric cancer patients are frequently younger and the tumor has locally infiltrative growth pattern early in its development. Observation of families with frequent early onset gastric cancer has led to the identification of a novel gene implicated in gastric cancer susceptibility: CDH1/E-cadherin. Diffuse familiar gastric cancer is defined as any family presenting: two first-degree relatives with diffuse gastric cancer, one of them with age under 50 years or at least 3 first-degree relatives irrespective age of onset. CASE REPORT: The family reported by us does not fit in any of the classification proposed. The precise identification of these families by clinical and molecular tools is of great importance. The case reported is an example of a family that probably is a form of hereditary gastric cancer not yet fully understood. CONCLUSION: Soon there will be new criteria, possibly including genetic and molecular characteristics.

  8. The intersubjectivity of family consumption

    DEFF Research Database (Denmark)

    Linnet, Jeppe Trolle

    This study of everyday consumption is based on an ethnographic fieldwork conducted among four Danish middle-class families in Copenhagen, from which an illustrative example of family car purchase is drawn. By introducing two new concepts to the study of family consumption; intra-family consumer...... identity and family scape, I analyze how family members negotiate purchase decisions, and relate to each other’s preferences and desires, as well as those of other families. I consider how family members' interrelations as consumers and long-term negotiations over symbolic meanings of consumption...

  9. What Is a Business Family?

    OpenAIRE

    Sten, Jan

    2007-01-01

    Most businesses are argued to be family businesses, but this group of businesses is very heterogeneous. This is noticed in terms of differences in level of family in-volvement and influence in family businesses, and the F-PEC scale is a powerful tool when analysing such variations. However, all the families that are involved in these family businesses are also different. These families may be referred to as business families, but how do such families differ from each other? In order to be abl...

  10. 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...

  11. Familial pancreatic cancer.

    Science.gov (United States)

    Klein, A P; Hruban, R H; Brune, K A; Petersen, G M; Goggins, M

    2001-01-01

    Pancreatic cancer is the fourth leading cause of cancer death in both men and women in the United States and will be responsible for an estimated 28,900 deaths in 2001. Relatively little is known of its etiology, and the only well-established risk factor is cigarette smoking. Studies over the past 3 decades have shown that 4%-16% of patients with pancreatic cancer have a family history of the disease. A small fraction of this aggregation can be accounted for in inherited cancer syndromes, including familial atypical multiple-mole melanoma, Peutz-Jeghers syndrome, hereditary breast-ovarian cancer, hereditary pancreatitis, and hereditary nonpolyposis colorectal cancer. These syndromes arise as a result of germline mutations in the BRCA2, pl6 (familial atypical multiple-mole melanoma), mismatch repair (hereditary nonpolyposis colorectal cancer), and STK11 (Peutz-Jeghers syndrome) genes. In addition, hereditary plays a role in predisposing certain patients with apparently sporadic pancreatic cancer. Many patients with pancreatic cancers caused by a germline mutation in a cancer-causing gene do not have a pedigree that is suggestive of a familial cancer syndrome. A recent prospective analysis of the pedigrees in the National Familial Pancreatic Tumor Registry found that individuals with a family history of pancreatic cancer in multiple first-degree relatives have a high risk of pancreatic cancer themselves. The identification of such high-risk individuals will help clinicians target screening programs and develop preventive interventions with the hope of reducing the mortality of pancreatic cancer in these families.

  12. Children in Maritally Violent Families: A Look at Family Dynamics.

    Science.gov (United States)

    Gullette, Lyn Cobin

    1987-01-01

    Maritally violent families are examined. Two types of violent families are described. Type I families use violence to establish a hierarchy and maintain control over members. In type II families, violence is used to express anger or to react to stress. Both types may cause behavioral problems in the children. (VM)

  13. Family Support & Health Care: Working Together for Healthy Families.

    Science.gov (United States)

    Lalley, Jacqueline, Ed.; Ahsan, Nilofer, Ed.

    1998-01-01

    This report of the Family Resource Coalition of America examines partnerships between family support programs and health care providers, forged to ensure that the comprehensive needs of families are met. The report begins with two articles, "Family Support and the Emerging Health System" and "Social and Economic Issues Affecting Health--A…

  14. Acculturation gaps in Vietnamese immigrant families: Impact on family relationships

    OpenAIRE

    Ho, Joyce; Birman, Dina

    2010-01-01

    Vietnamese immigrants in the United States face acculturation challenges involving the individual, family, and community. Experts suggest that immigrant family members acculturate at different rates resulting in an acculturation gap, which negatively influences family adjustment. In this study we examined the degree and patterns of acculturation differences between 104 first generation immigrant Vietnamese adolescents and their parents, and whether acculturation gap affected family relationsh...

  15. Engaging Families in In-Home Family Intervention

    Science.gov (United States)

    Thompson, Ronald W.; Koley, Sarah

    2014-01-01

    Boys Town has created a program called In-Home Family Services to deliver help to families in stress. In-home family intervention programs have become widely used to help more families who are at risk and experiencing difficulties with a wide range of problems including domestic violence, child behavior problems, parent-child and family…

  16. Anxiety Disorders and the Family: How families affect psychiatric disorders

    OpenAIRE

    Hunsley, John

    1991-01-01

    Family functioning and anxiety disorders, the most prevalent forms of psychiatric disorder, influence one another. The empirical literature on family studies of anxiety disorder (ie, aggregration of disorders within families), on parent-child relationships and anxiety disorders, and on marriage and anxiety disorders is reviewed. Finally, the challenges for patients and their families of post-traumatic stress disorder are discussed.

  17. 75 FR 9247 - Single Family Mortgage Insurance Premium, Single Family

    Science.gov (United States)

    2010-03-01

    ... URBAN DEVELOPMENT Single Family Mortgage Insurance Premium, Single Family AGENCY: Office of the Chief... the Single Family Premium Collection Subsystem-Upfront (SFPCS-U) to remit the upfront premium to... manage and process upfront single family mortgage insurance premium collections and corrections to...

  18. WOMEN IN FAMILY BUSINESS

    Directory of Open Access Journals (Sweden)

    Mr Anshu

    2012-04-01

    Full Text Available The role of women in family businesses is explored in the paper. Although recognized as generally very important players, the role of women is often defined as invisible in business decision-making, supportive in men’s traditional business domains and only rarelyadequately recognized and rewarded. The paper explores possible differences in the views of men and women who manage small family firms. Their attitudes opposing the traditional business roles ofwomen, different views on managerial, ownership and transition issues and possible gender discrimination are examined. The findings support the paradigm of a different, more feminine style of management, while signs of discrimination are not clearly revealed. This paper is based on a research intended to provide acomparative analysis of the status of women entrepreneurs and men entrepreneurs in Family Business in India. It first draws demographic & psychographic profiles of women and men entrepreneurs in family business, identifies & addresses operational problems faced by women and men entrepreneurs in family business, draws theirinclination for future plans for growth and expansion and also for the furtherance of research on women entrepreneurs in India.

  19. Understanding Family Interaction Patterns in Families With Alzheimer's Disease.

    Science.gov (United States)

    Schaber, Patricia; Blair, Kate; Jost, Ellen; Schaffer, Molly; Thurner, Emily

    2016-01-01

    This qualitative study explores the dynamic changes that occur in family interaction patterns when Alzheimer's disease is present. Semi-structured interviews were conducted with 15 participants who have a family member with the disease. Using modified analytic induction, guided by the dimensions of the Family Fundamental Interpersonal Relations Orientation (FIRO) Model, participants shared how Alzheimer's disease affected family structure, control dynamics, and intimacy among family members. Findings demonstrate that (a) families reorganize and restructure based on geographic proximity and shifting roles, act out of filial responsibility, and strive to preserve shared meanings and rituals; (b) decision making increases around care of the person with Alzheimer's disease and shifts to the primary caregiver or other family members based on their abilities; and (c) expressions of intimacy intensify while personality is preserved in the person with the disease. The Family FIRO model can inform practitioners using family-centered care with families with Alzheimer's disease.

  20. Dividends and family governance practices in private family firms

    OpenAIRE

    Michiels, Anneleen; Voordeckers, Wim; Lybaert, Nadine; STEIJVERS, Tensie

    2015-01-01

    Intra-familial principal–principal conflict are a relevant agency problem in privately held family firms. These conflicts of interest commonly occur between active and passive family shareholders, and require remedies different from those that deal with principal-agent conflicts. This article empirically examines whether or not firms use dividends as instruments to cope with conflicts of interest between active and passive family shareholders and how family governance practices moderate this ...

  1. Families from Supergroups

    CERN Document Server

    Barr, S M

    2016-01-01

    As was shown in 1984 by Caneschi, Farrar, and Schwimmer, decomposing representations of the supergroup SU(M|N), can give interesting anomaly-free sets of fermion representations of SU(M) x SU(N) x U(1). It is shown here that such groups can be used to construct realistic grand unified models with non-abelian gauged family symmetries. A particularly simple three-family example based on SU(5) x SU(2) x U(1) is studied. The forms of the mass matrices, including that of the right-handed neutrinos, are determined in terms of SU(2) Clebsch coefficients. Models of this type would have a rich phenomenology if part of the family symmetry is broken near the electroweak scale.

  2. Family Resilience: Israeli Mothers' Perspectives.

    Science.gov (United States)

    Cohen, Orna; Slonim, Iris; Finzi, Ricky; Leichtentritt, Ronit D.

    2002-01-01

    Study reveals components underlying the concept of family resilience based on the perceptions of Israeli women. Five components of family resilience were identified (1) interpersonal relations; (2) ability to share painful feelings; (3) flexibility among family members; (4) connectedness; and (5) family values. Components have practical…

  3. Gendered Discourse about Family Business

    Science.gov (United States)

    Danes, Sharon M.; Haberman, Heather R.; McTavish, Donald

    2005-01-01

    Language patterns of family business owners were explored by identifying discourse styles and emphasized ideas in four presenting contexts: business, family, intersection of family and business, and business success. The content analysis supports the existence of a general discourse style within family businesses and of similarities and…

  4. Contemporary family life

    DEFF Research Database (Denmark)

    Viala, Eva Silberschmidt

    2011-01-01

    Based on a longitudinal interview-study of ten heterosexual couples and first-time parents, in Denmark the author argues that addressing contemporary everyday family life as a joint venture with contradictions contribute new insights into the complexities, contradictions, and ambiguities linked...... of complementary gender roles as well as in new understandings of gender equality based on ideals of mutual trust, respect and support. As a result, it is important to investigate how parenthood, family life and parental roles are constantly reflected upon and reproduced, negotiated and transformed through...

  5. Designing Product Families

    DEFF Research Database (Denmark)

    Pedersen, Per Erik Elgård; Miller, Thomas Dedenroth

    1998-01-01

    led to a new business paradigm, "mass customization", where companies strive to provide highly customized products while still maintaining the efficiency of the classical mass production enterprise. One of the key factors in mass customization has been efficient use of product platforms as a...... foundation for the customization process, whereby the customized products become variants of a product family with a high degree of reuse and utilization of kinship between the individual variants.With this paper, we will discuss the development of platform based product families from three points of view...

  6. Familial hemicrania continua.

    Science.gov (United States)

    Weatherall, Mark W; Bahra, Anish

    2011-01-01

    There are now three known causative genes for familial hemiplegic migraine and increasing evidence to support a genetic predisposition to the more common types of migraine with and without aura, and for cluster headache. We present the first reported case of familial hemicrania continua. A mother and daughter developed hemicrania continua at the same time of life. Both showed an absolute response to indometacin and at similar doses. Both also suffered from migraine with aura. We discuss the increasing support for a genetic predisposition to dysfunction of the pain system within the brain manifesting as primary headache.

  7. Global sourcing of family firms

    OpenAIRE

    Horgos, Daniel

    2010-01-01

    In Europe, a huge share of firms is family owned. Since family firms are known to be more risk averse concerning international transactions, an interesting question emerges: Do family firms adopt a different international sourcing pattern. Altering the Gloubal Sourcing model of Antràs and Helpman, this theoretical contribution adopts a family firm's perspective. The model shows that family firms tend to decrease international procurement. In the headquarter intensive sector, where FDI coexist...

  8. Juvenile Delinquency and Family Structure

    OpenAIRE

    Villaseñor, Miguel Alberto Ramírez

    2001-01-01

    The present study is an analysis of twelve family structure variables in a sample of 250 under-age offenders' families. All families had been remitted to the Parents Group at the Behavioral Control Clinic between February and September, 1988, charged with theft and/or drug abuse. There are certain factors in those families ( such as immigration, the attributed value of the identified patient, his adolescent stage, the presence of extensive family members and a dead brother) that seem to decid...

  9. Another way to teach family: family nursing game

    Directory of Open Access Journals (Sweden)

    Carla Sílvia Neves da Nova Fernandes

    2014-10-01

    Full Text Available Current paper describes the application of an innovative strategy to teach family, within a hospital context, by sensitizing nurses on the family subject through the use of a game. Given the hospitalization of a relative, the family faces changes in its dynamics caused by the crisis it is exposed to. It is the relevance for including the family within the care process. Since nurses are expected to assume a key role for which they need specific competence to intervene in families when experiencing an eventual crisis. The in-service education becomes a strategy of generating new skills and enhances human capital to improve the quality of nursing care. Considering the importance of including family in the care context, a playful tool called Family Nursing Game has been invented for teaching the family, especially by passing a model of family intervention. The strategy is based on the belief of the existence of relationship between game and learning.

  10. Getting a High-Speed Family Connection: Associations between Family Media Use and Family Connection

    Science.gov (United States)

    Padilla-Walker, Laura M.; Coyne, Sarah M.; Fraser, Ashley M.

    2012-01-01

    The way families have used the media has substantially changed over the past decade. Within the framework of family systems theory, this paper examines the relations between family media use and family connection in a sample of 453 adolescents (mean age of child = 14.32 years, SD = 0.98, 52% female) and their parents. Results revealed that cell…

  11. Familial Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Y Samatha

    2010-01-01

    Full Text Available Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  12. Familial Crouzon syndrome

    OpenAIRE

    Y Samatha; T Harsha Vardhan; A Ravi Kiran; A J Sai Sankar; B Ramakrishna

    2010-01-01

    Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  13. A Family of Mice

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    @@ 一、故事内容 There is a family of mice in my house. They are father mouse, mother mouse and baby mouse. Baby mouse likes dancing. He is very cute. Father mouse likes watching TV. He likes the sports on TV best. These three mice are clever.

  14. Crowding and Family Relations

    Science.gov (United States)

    Booth, Alan; Edwards, John N.

    1976-01-01

    The effect of household and neighborhood crowding on the relations between spouses, those between parents and children, and the relations among children are examined; a sample of urban families residing in conditions ranging from open to highly compressed provided the data for the investigation and multiple regression was used to analyze the…

  15. Linking Families, Building Community.

    Science.gov (United States)

    Fowler, R. Clarke; Corley, Kathy Klebs

    1996-01-01

    A year-round magnet elementary school in Salem, Massachusetts, has increased its family involvement by borrowing elements from many models. The school has mixed-age groupings, integrated social services, and community outreach strategies such as a parent center, business-sponsored Friday clubs, and celebrations of learning. (MLH)

  16. Family, Friends and Fertility

    NARCIS (Netherlands)

    Balbo, Nicoletta Franca Germana

    2012-01-01

    In deze dissertatie wordt een belangrijke nieuwe verklaring van vruchtbaarheidsgedrag ontwikkeld. De nadruk in deze nieuwe benadering ligt op het meso-niveau, dus op factoren die relatie hebben met het netwerk van de informele relaties die iemand deelt met familie en vrienden (d.w.z. het sociale net

  17. Homozygous familial hypercholesterolemia

    Directory of Open Access Journals (Sweden)

    Ravi Kumar Parihar

    2012-01-01

    Full Text Available Familial hypercholesterolema (FH is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile consistent with FH.

  18. Homozygous familial hypercholesterolemia

    OpenAIRE

    Ravi Kumar Parihar; Mohd Razaq; Ghanshyam Saini

    2012-01-01

    Familial hypercholesterolema (FH) is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile consistent with FH.

  19. Schools, Families, and Math.

    Science.gov (United States)

    Murray, Megan

    2003-01-01

    Introduces "Schools and Families: Creating a Math Partnership," a book designed to help parents see the math in their children's work and establish effective home-school partnerships. Includes an except from the book that discusses how homework can help parents see how their children are learning and doing mathematics in class. (KHR)

  20. Family Constellations in Europe

    NARCIS (Netherlands)

    A. Puur; L. Sakkeus; N. Schenk (Niels); A. Põldma

    2010-01-01

    textabstractThe importance of one’s family in times of need is unquestionable. Young children rely on their parents for proper living conditions, who in turn receive help from their aging parents in raising and caring for their children. There also comes a time when elderly parents themselves requir

  1. It Takes a Family

    Centers for Disease Control (CDC) Podcasts

    2007-11-01

    This podcast follows an African American man with diabetes and his family as they discuss living healthfully with diabetes.  Created: 11/1/2007 by National Diabetes Education Program (NDEP), a joint program of the Centers for Disease Control and Prevention and the National Institutes of Health.   Date Released: 11/12/2007.

  2. The Pycnogonid family Austrodecidae

    NARCIS (Netherlands)

    Stock, J.H.

    1957-01-01

    DE PYCNOGONIDEN- FAMILIE AUSTRODECIDAE Toen mij, in 1954, uit Oslo een verzameling Pycnogonida van de „Norwegian Scientific Expedition to Tristan da Cunda 1937—1938“ ter bewerking werd opgezonden, kon ik niet vermoeden dat deze kleine collectie aanleiding zou geven tot een uitgebreide revisie van ee

  3. Family Play Therapy.

    Science.gov (United States)

    Ariel, Shlomo

    This paper examines a case study of family play therapy in Israel. The unique contributions of play therapy are evaluated including the therapy's accessibility to young children, its richness and flexibility, its exposure of covert patterns, its wealth of therapeutic means, and its therapeutic economy. The systematization of the therapy attempts…

  4. Not Your Family Farm

    Science.gov (United States)

    Tenopir, Carol; Baker, Gayle; Grogg, Jill E.

    2007-01-01

    The information industry continues to consolidate, just as agribusiness has consolidated and now dominates farming. Both the family farm and the small information company still exist but are becoming rarer in an age of mergers, acquisitions, and increased economies of scale. Small companies distinguish themselves by high quality, special themes,…

  5. The colpitts oscillator family

    DEFF Research Database (Denmark)

    Lindberg, Erik; Murali, K.; Tamasevicius, A.

    A tutorial study of the Colpitts oscillator family defined as all oscillators based on a nonlinear amplifier and a three- terminal linear resonance circuit with one coil and two capacitors. The original patents are investigated. The eigenvalues of the linearized Jacobian for oscillators based...

  6. Endangered Language Families

    Science.gov (United States)

    Whalen, D. H.; Simons, Gary F.

    2012-01-01

    Linguists have increased their documentation efforts in response to the sharp decline in the number of languages. Greater awareness and new sources of funding have led to an upsurge in language documentation. While individual languages make unique contributions to the world's linguistic heritage, language families, by virtue of their shared…

  7. Adlerian Family Therapy.

    Science.gov (United States)

    Dinkmeyer, Don; Dinkmeyer, Don, Jr.

    1981-01-01

    Discusses the competencies basic to Adlerian therapy--including influencing psychological movement, working with the family communication system, focusing on the real issue, aligning goals and dealing with resistance, stimulating social interest, encouragement, and tentative hypotheses, and antisuggestion. A specific process for helping the family…

  8. Family Patterns Associated with Anorexia Nervosa.

    Science.gov (United States)

    Grigg, Darryl N.; And Others

    1989-01-01

    Used family systems perspective to explore familial transactional patterns related to anorexia nervosa among 22 families with an anorexic child and 22 matched control families. Identified 7 family groups with unique family dynamics differentiating one from another. With no single family pattern characterizing families of anorexics, results…

  9. Transfers of Family Businesses to Non-Family Buyers - The Selling Business Family Perspective

    OpenAIRE

    Sten, Jan

    2006-01-01

    This study focuses on business families and how they handle transitions such as business transfers. It also tries to shift the balance of research away from successions and towards business transfers as a key topic for family business researchers. In addition, it contributes to the family business research field by further highlighting the importance of the various different contributions in the family business from business family members other than the entrepreneurial founder. Based on ...

  10. Study of a family that overcomes poverty issues: family resilience?

    Directory of Open Access Journals (Sweden)

    María Ángela Mattar Yunes

    2015-09-01

    Full Text Available Generally, researches with families focus the difficulties and the negative aspects of family life by bringing up their maladjustments and failures. The interest in family resilience contributes to change this logic by demonstrating the healthy aspects of the family world. Nevertheless, the term resilience presents ideological controversies which are more severe when the discussion is about families and poverty. In order to diminish these contradictions this study adopted a systemic concept of resilience which refers to “those processes that make possible to overcome adversities”. A case study was realized with a low income family who lived in a “very poor” neighborhood in the deep south of Brazil. The methodological strategies to the formal investigation of the family were: life history of the family using the principles of reflexive interview, genograms and data analyses through the approach of the grounded theory. The results showed that the family lived a number of risk experiences such as adoption, privation of basic needs, migration and diseases. Among the indicators of their abilities of “overcoming adversities”, emerged the belief system as the core of the discourses. The family showed that they value the interpersonal relationships through intra and extra familiar interactions based in the patterns of help, learning, affection and solidarity. During the crisis the family gives meaning to the difficulties in order to maintaining the situation controlled through cohesion, open communication, mutual respect and getting support of the extended family/ social network. The pos-adversity period is perceived as benefic and transforming as the family feels stronger and with feelings of solidarity, which is a mark of this family. Their attitude in relation to the neighborhood is active in the sense of promoting the welfare of other families who live in the same social address. Would those above identified processes be adequate to

  11. Family therapy sessions with refugee families; a qualitative study

    OpenAIRE

    Jarkman Björn, Gunilla; Gustafsson, Per A.; Sydsjö, Gunilla; Berterö, Carina

    2013-01-01

    Background Due to the armed conflicts in the Balkans in the 1990s many families escaped to other countries. The main goal of this study was to explore in more detail the complexity of various family members’ experiences and perceptions from their life before the war, during the war and the escape, and during their new life in Sweden. There is insufficient knowledge of refugee families’ perceptions, experiences and needs, and especially of the complexity of family perspectives and family syste...

  12. Family and Cultural Capital. The perspective of familiness

    OpenAIRE

    Ortíz García, Pilar; Olaz Capitán, Ángel José; Monreal Martínez, Juan

    2014-01-01

    The influence of the family on a business, its commitment to the company and the values it conveys form a capital capable of influencing the global development of a business. This research analyzes family capital and in particular its cultural components as a resource influencing the direction of the company. Corporate culture as a guiding philosophy for family business strategy is a key factor in its success. In short, the cultural capital of a family business is a capac...

  13. Progressive familial intrahepatic cholestasis

    Institute of Scientific and Technical Information of China (English)

    Tomohide Hori; Justin H. Nguyen; Shinji Uemoto

    2010-01-01

    BACKGROUND: Three types of progressive familial intrahepatic cholestasis (PFIC) have been identiifed, but their etiologies include unknown mechanisms. DATA SOURCES: A PubMed search on "progressive familial intrahepatic cholestasis" and "PFIC" was performed on the topic, and the relevant articles were reviewed. RESULTS: The etiologies of the three PFIC types still include unknown mechanisms. Especially in PFIC type 1, enterohepatic circulation of bile acid should be considered. Ursodeoxycholic acid, partial external biliary diversion and liver transplantation have been used for the treatment of PFIC patients according to disease course. CONCLUSIONS: Since the etiologies and disease mechanisms of PFIC are still unclear, detailed studies are urgently required. Strategies for more advanced therapies are also needed. These developments in the future are indispensable, especially for PFIC type 1 patients.

  14. Marriage and Family Therapy

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    About the author: Chen Yiyun graduated from the Russian Language and Literature Departraent at Beijing University in 1964. She then enrolled at the Sociology Institute of the China Academy of Social Sciences in 1978. Upon graduation, she remained at the Institute as a research fellow. She later became editor-in-chief of the magazine Sociology Abroad. She translated and edited dozens of sociology books. In 1988, after she returned from the United States, she devoted herself to the research of sociology and marriage consultation. In 1993, Chen set up the Jinglun Family Science Center, a non-governmental organization which is a combination of scientific research and social practice. She organized scholars, social workers and volunteers from sectors of public health, education and legislation to conduct useful activities to promote democracy in the family, equality, health and civilization.

  15. Familial neurohypophyseal diabetes insipidus

    DEFF Research Database (Denmark)

    Kvistgaard, Helene

    2011-01-01

    Familial neurohypophyseal diabetes insipidus (FNDI) is characterized by severe low-solute polyuria and polydipisa. The disease is caused by a deficient neurosecretion of the antidiuretic hormone arginine vasopressin (AVP). The hormone is normally synthesized by the magnocellular neurons in the pa......Familial neurohypophyseal diabetes insipidus (FNDI) is characterized by severe low-solute polyuria and polydipisa. The disease is caused by a deficient neurosecretion of the antidiuretic hormone arginine vasopressin (AVP). The hormone is normally synthesized by the magnocellular neurons...... as one sporadic case of early-onset diabetes insipidus. Genetic testing of the sporadic case of diabetes insipidus revealed a highly unusual mosaicism for a variation in the gene encoding the AVP receptor (AVPR2). This mosaicism had resulted in a partial phenotype and initial diagnostic difficulties...

  16. Familial hypophosphatemic rickets

    Directory of Open Access Journals (Sweden)

    Sattur A

    2010-01-01

    Full Text Available Rickets is the failure of mineralization of osteoid and newly formed bones in a child skeleton. It is commonly associated with vitamin D deficiency; however, it can be because of a decrease in the serum phosphate levels leading to inadequate mineralization of cartilage and bone, consequent skeletal deformities, and growth retardation. The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases. One of the hereditary types of hypophosphatemic rickets is the familial hypophosphatemic rickets. This rare variety was diagnosed in a 9-year-old patient who had come with a chief complaint of a missing tooth. In the present case, radiographic aspects of oral and systemic manifestations of familial hypophosphatemic rickets are highlighted.

  17. FRANCHISE FROM FAMILY BUSINESS?

    Directory of Open Access Journals (Sweden)

    Adrián NAGY

    2016-06-01

    Full Text Available The purpose of this study was to examine the franchise as a form of enterprise in perspective to existing family businesses and how can they operate this way. Why is this form better for them, what advantages it has? In this case an ice cream shop’s economic inidicators were examined ,one which is owned by a hungarian family in Jász-Nagykun-Szolnok county who runs several shops like this. That is why this study was made, to find out if it is possible to run it sucsessfully and what costs does the newcomers in the franchise business network have to pay and how much is the time on the return of investments.

  18. Familial hyperamylasemia Hiperamilasemia familiar

    OpenAIRE

    Yu Kar Ling Koda; Eliana Vidolin

    2002-01-01

    A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family memb...

  19. 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.

  20. Origin of family symmetries

    Energy Technology Data Exchange (ETDEWEB)

    Nilles, Hans Peter [Bonn Univ. (Germany). Bethe Center for Theoretical Physics; Bonn Univ. (Germany). Physikalisches Inst.; Ratz, Michael [Technische Univ. Muenchen, Garching (Germany). Physik-Department; Vaudrevange, Patrick K.S. [Deutsches Elektronen-Synchrotron (DESY), Hamburg (Germany)

    2012-04-15

    Discrete (family) symmetries might play an important role in models of elementary particle physics. We discuss the origin of such symmetries in the framework of consistent ultraviolet completions of the standard model in field and string theory. The symmetries can arise due to special geometrical properties of extra compact dimensions and the localization of fields in this geometrical landscape. We also comment on anomaly constraints for discrete symmetries.

  1. 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

  2. Family Weight School treatment

    DEFF Research Database (Denmark)

    Nowicka, Paulina; Höglund, Peter; Pietrobelli, Angelo;

    2008-01-01

    in the 1-year follow-up. Adolescents in the intervention group with initial BMI z-score genders (-0.09 +/- 0.04, p = 0.039) compared with those in the control...... group with initial BMI z-score difference was found in adolescents with BMI z-scores > 3.5. CONCLUSIONS: Family Weight School treatment model might be suitable for adolescents with BMI z...

  3. (Social) Darwinism for Families

    OpenAIRE

    Bayraktar, Uğur Bahadır

    2014-01-01

    The impact of Darwinism on the formation of modern Turkish state is indisputable. Social Darwinist theories were employed to consolidate a homogenous Turkish entity in early Republican Turkey, and were promoted not just within political spheres, but also in popular culture. Against this background, this paper analyses the role of social Darwinism in an illustrated monthly family magazine, Muhit. The magazine included sections on literature, popular science, and tips on housekeeping. Ahmet Cev...

  4. Innovation in Family Firms

    DEFF Research Database (Denmark)

    Filser, Matthias; Brem, Alexander; Gast, Johanna;

    2016-01-01

    , organizational culture and behaviour, resources, and innovation and strategy. Second, based on a thorough literature review the major research avenues are reflected. The comparison of the results of both analyses showed the following areas for future research on family firm innovation: members‘ individual human...... capital and their leadership behaviour, openness to externals, cross-country comparisons, and finally the family‘s functional integrity on innovation performance....

  5. Celibacy and Family Disruption

    OpenAIRE

    Emaletdinov B. M.

    2013-01-01

    Causes for celibacy, divorces and successful marriage are discussed in the article. Absence of true love and inability to build and keep it are the main reasons for family disruption. Amorousness, immature love and various forms of false or flawed love substitute the true feeling. It is caused by increased women’s independence, loss of mutual understanding and trust (due to infidelity or jealousy), incompatibility of characters or values. Celibacy is often conditioned by physical disability, ...

  6. Familial Poland anomaly.

    OpenAIRE

    David, T J

    1982-01-01

    The Poland anomaly is usually a non-genetic malformation syndrome. This paper reports two second cousins who both had a typical left sided Poland anomaly, and this constitutes the first recorded case of this condition affecting more than one member of a family. Despite this, for the purposes of genetic counselling, the Poland anomaly can be regarded as a sporadic condition with an extremely low recurrence risk.

  7. Origin of family symmetries

    OpenAIRE

    Nilles, H. P.; Ratz, M.; Vaudrevange, P. K. S.

    2012-01-01

    Discrete (family) symmetries might play an important role in models of elementary particle physics. We discuss the origin of such symmetries in the framework of consistent ultraviolet completions of the standard model in field and string theory. The symmetries can arise due to special geometrical properties of extra compact dimensions and the localization of fields in this geometrical landscape. We also comment on anomaly constraints for discrete symmetries.

  8. The family medicine cabinet *

    OpenAIRE

    Edwards, G. P. L.

    1982-01-01

    Medicine selection and storage was examined in 130 families. Over 50 per cent were found to be less than adequate. Health education advice helped half the inadequate group to change to adequate. Age and social class were not related to hoarding of prescribed drugs, to initial standards of storage or selection, nor to the likelihood of a response to advice. Those who hoarded medicines but stored them well were highly likely to change. Those who stored and selected poorly were unlikely to make ...

  9. Progressive familial intrahepatic cholestasis

    OpenAIRE

    Baussan Christiane; Gonzales Emmanuel; Davit-Spraul Anne; Jacquemin Emmanuel

    2009-01-01

    Abstract Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and related to mutations in hepatocellular transport system genes involved in bile formation. PFIC1 and PFIC2 usually appea...

  10. A Family Affair : Explaining Co-Working By Family Members

    NARCIS (Netherlands)

    Ruijter, Esther de; Lippe, Tanja van der; Raub, Werner; Weessie, Jeroen

    2008-01-01

    This study focuses on co-working by intimate partners and other family members in entrepreneurs’ businesses. We hypothesize that co-working by family is beneficial because it reduces trust problems associated with employment relations. On the other hand, co-working is risky because co-working family

  11. Family and Family Change in Ireland: An Overview

    Science.gov (United States)

    Canavan, John

    2012-01-01

    In Ireland, historically and in the current era, family has been a central concern for society and the State. This article provides a descriptive overview of family life in Ireland and of major family-related changes over the past 40 years. It presents a general framework of analysis within which these changes can be understood, considers the…

  12. Families and Family Psychology at the Millennium: Intersecting Crossroads.

    Science.gov (United States)

    Kaslow, Florence W.

    2001-01-01

    Presents a global overview of issues and trends confronting families and family psychologists in the 21st century. Makes linkages to what psychologists can do as clinicians and researchers regarding different problems and issues, each of which is manifested at the individual, family, and societal level. Includes predictions about new and expanding…

  13. Family Counseling Interventions: Understanding Family Systems and the Referral Process.

    Science.gov (United States)

    McWhirter, Ellen Hawley; And Others

    1993-01-01

    This article describes concepts underlying the idea of the "family as a system"; compares and contrasts four approaches to family therapy (those of Virginia Satir, Jay Haley, Murray Bowen, and Salvador Minuchin); and offers suggestions to teachers referring parents for family counseling. (DB)

  14. Changing Families, Changing Responsibilities: Family Obligations Following Divorce and Remarriage.

    Science.gov (United States)

    Ganong, Lawrence H.; Coleman, Marilyn

    The high incidence of divorce and remarriage means that the structure of American families is changing. Drawing on 13 studies that explore intergenerational obligations, this book discusses the responsibilities of family members to one another after divorce and remarriage. Chapter 1, "Who Is Responsible for Dependent Family Members?," presents an…

  15. Psychoanalysis: a dysfunctional family?

    Science.gov (United States)

    Grosskurth, P

    1998-01-01

    The discussion opens with an account of the author's mother's bizarre family in which a strong, charismatic grandmother maintained absolute control over her large family by encouraging a neurotic dependence in them through daily reports of their complaints. Getting interested in psychoanalysis in an effort to understand the dynamics of this dysfunctional family, the author, a biographer, turned to the study of Melanie Klein, becoming entranced by her ideas. Her research also revealed how Klein had discouraged her followers from developing ideas that diverged in any way from her own. Her portrait of the pioneer analyst provoked intense indignation. A similar pattern of absolute loyalty to his person and theories was to be found in Freud's Secret Committee, formed primarily as a means of getting rid of Jung who had been showing disturbing signs of independence. When Ferenczi and Rank began to pursue independent lines of enquiry in their work, they too were though to be undermining the foundations of classical psychoanalysis. Finally, the author concludes that though there have been sorry incidents in psychoanalysis, we should be mature enough to accept both the contributions of the early pioneers and the realizations that new ideas must be permitted to evolve.

  16. Cybernetics of Brief Family Therapy.

    Science.gov (United States)

    Keeney, Bradford P.; Ross, Jeffrey M.

    1983-01-01

    Presents a cybernetic view of brief family therapy. Includes a historical discussion of the key ideas underlying brief family therapy, a cybernetic model of therapeutic change, and a clinical case for exemplification. (Author/JAC)

  17. National Survey of Family Growth

    Data.gov (United States)

    U.S. Department of Health & Human Services — The National Survey of Family Growth (NSFG) gathers information on family life, marriage and divorce, pregnancy, infertility, use of contraception, and men's and...

  18. One Family's Struggles with Rotavirus

    Medline Plus

    Full Text Available Immunizations Rotavirus One family's struggles with rotavirus We provide this video in a variety of formats and ... not possible without a visit to your doctor. Immunizations stop disease from spreading. Check with your family ...

  19. One Family's Struggle with Chickenpox

    Medline Plus

    Full Text Available Immunizations Chickenpox (Varicella) One family's struggles with chickenpox We provide this video in a variety of formats ... not possible without a visit to your doctor. Immunizations stop disease from spreading. Check with your family ...

  20. One Family's Struggles with Shingles

    Medline Plus

    Full Text Available Immunizations Shingles One family's struggles with shingles We provide this video in a variety of formats and ... not possible without a visit to your doctor. Immunizations stop disease from spreading. Check with your family ...

  1. Families classification including multiopposition asteroids

    Science.gov (United States)

    Milani, Andrea; Spoto, Federica; Knežević, Zoran; Novaković, Bojan; Tsirvoulis, Georgios

    2016-01-01

    In this paper we present the results of our new classification of asteroid families, upgraded by using catalog with > 500,000 asteroids. We discuss the outcome of the most recent update of the family list and of their membership. We found enough evidence to perform 9 mergers of the previously independent families. By introducing an improved method of estimation of the expected family growth in the less populous regions (e.g. at high inclination) we were able to reliably decide on rejection of one tiny group as a probable statistical fluke. Thus we reduced our current list to 115 families. We also present newly determined ages for 6 families, including complex 135 and 221, improving also our understanding of the dynamical vs. collisional families relationship. We conclude with some recommendations for the future work and for the family name problem.

  2. Does Addiction Run in Families?

    Science.gov (United States)

    ... runs in some families. Addiction runs in ours." Matt's family has a history of addiction. He realizes ... may be more likely to become addicted. Read Matt's story About the National Institute on Drug Abuse ( ...

  3. Family love time capsule preview

    CERN Document Server

    Musgrave, Jim

    2015-01-01

    Create your own family time capsule online using EMRE Publishing's ePub3 Creator Studio. With our storage plans, your family videos, music playlists and mysteries can be preserved for coming generations to add to, embellish, and communicate using our Family Forum inside the Embellisher eReader for multimedia ""enhanced"" eBooks. Just like the ""American Sniper"" enhanced eBook, you can pay tribute to your fallen heroes and other family members who have distinguished themselves in life.

  4. Contribution on family business definition

    OpenAIRE

    Vallone, C.

    2013-01-01

    Despite numerous researches and an ample literature, there is not a unanimously and approved family business definition which identify family businesses from nonfamily businesses. Which are the aspects to describe exactly a family business? Which are the aspects that help to recognise family business from nonfamily business? Answering to these questions means to circumscribe the field of investigation, and obtain a comparable sample for international researches; to individualize the presence ...

  5. Why the Four SM Families

    CERN Document Server

    Sultansoy, S F

    2001-01-01

    The flavor democracy favors the existence of the nearly degenerate fourth SM family, whereas the fifth SM family is disfavored both by the mass phenomenology and precision tests of the Standard Model. The multi-hundreds GeV fourth family quarks will be copiously produced at the LHC. However, the first indication of the fourth family may come from the Higgs search at the upgraded Tevatron.

  6. Family physicians: supply and demand.

    OpenAIRE

    Bowman, M A

    1989-01-01

    The nation's supply of family physicians as estimated by the Graduate Medical Education National Advisory Committee appears fairly accurate. At the same time, the demands for family physicians appear to be strong, partially because case-management systems recognize the cost-effectiveness and appropriate training of family physicians for their needs. The largest factor inhibiting the supply of such physicians appears to be the relatively lower income of family practice compared to other specia...

  7. The growing VAO flavoprotein family

    NARCIS (Netherlands)

    Leferink, Nicole G. H.; Heuts, Dominic P. H. M.; Fraaije, Marco W.; van Berkel, Willem J. H.

    2008-01-01

    The VAO flavoprotein family is a rapidly growing family of oxidoreductases that favor the covalent binding of the FAD cofactor. In this review we report on the catalytic properties of some newly discovered VAO family members and their mode of flavin binding. Covalent binding of the flavin is a self-

  8. Family Textbooks Twelve Years Later

    Science.gov (United States)

    Glenn, Norval D.

    2009-01-01

    In 1996 the author conducted an intensive study of twenty current family textbooks published in the United States, the results of which appeared in an academic journal article and a nonacademic report in 1997. The study included practical "functionalist" marriage and family textbooks and more academic sociology of the family books; these works…

  9. Family control and financing decisions

    NARCIS (Netherlands)

    Croci, Ettore; Doukas, John A.; Gonenc, Halit

    2011-01-01

    This study uses a comprehensive European dataset to investigate the role of family control in corporate financing decisions during the period 1998-2008. We find that family firms have a preference for debt financing, a non-control-diluting security, and are more reluctant than non-family firms to ra

  10. Family networks and income hiding

    NARCIS (Netherlands)

    Beekman, Gonne; Gatto, Marcel; Nillesen, Eleonora

    2015-01-01

    This study investigates the relationship between family network density and income hiding in rural Liberia. We link people's behaviour in a modified lottery experiment and a time preference game to detailed information about their family networks. We find that individuals with a dense family netw

  11. Theme Section: Focus on Families.

    Science.gov (United States)

    Ungar, Manya; And Others

    1988-01-01

    A collection of 14 brief articles considers the effects of family environment and lifestyle on children and provides suggestions for healthier family relations. The articles cover such topics as: family stress; preschool academic programs; stepfamilies; corporate child care; fathers; divorce; only children; single and working parents; and death.…

  12. 75 FR 63753 - Family Offices

    Science.gov (United States)

    2010-10-18

    ...\\ See, e.g., In the Matter of Donner Estates, Inc., Investment Advisers Act Release No. 21 (Nov. 3, 1941... transfer of assets resulting from the involuntary event, which should allow that family office to orderly... family office to non- family clients if there is a death or other involuntary event without...

  13. Dual-career family as an exampleof egalitarian family

    Directory of Open Access Journals (Sweden)

    Joanna Ostrouch-Kamińska

    2011-11-01

    Full Text Available The economic, cultural, and social transformation, growth of women's economic strength as well as the level of their education, and development of ideas of equal rights of women and men on the labour market and in social life cause changes in gender relation in the family. Poles more and more often declare and support egalitarian family, and a new model of a family appears among existing ones – dual-career family.The main aim of the article is to consider the sources of its rise, description of gender positions in marital relation, the division of tasks and responsibilities, possible dilemmas and conflicts, but also emotional, intellectual and social advantages. The analysis were put into context of changes in defining and describing family, and also in context of different family discourses. One of them was underlined the most – egalitarian one as the most approximate to the way of defining and understanding dual-career family model.

  14. Family dynamics and infant temperament in Danish families

    DEFF Research Database (Denmark)

    Wilson, M.E.; Hall, Elisabeth O.C.; White, M.A.

    1994-01-01

    Transition to parenthood involves the fine balance of family dynamics which both affect, and are affected by, the infant's temperament. The purpose of this study was to investigate changes in family dynamics over the transition to parenthood and the relationship of family dynamics to infant...... temperament. A sample of 99 families in Odense, Denmark, completed the Family Dynamics Measure in the third trimester of pregnancy and again when the infant was 8-9 months old. At this second time, the mothers also completed the Revised Infant Temperament Questionnaire. Overall we found small changes......, although always in a negative direction, in family dynamics over this transition. The largest change was an increase in perceived role conflict reported by both mothers and fathers. Mothers reported more role conflict than fathers. Positive family dynamics were related to infant rhythmicity....

  15. QUAD FAMILY CENTERING.

    Energy Technology Data Exchange (ETDEWEB)

    PINAYEV, I.

    2005-11-01

    It is well known that beam position monitors (BPM) utilizing signals from pickup electrodes (PUE) provide good resolution and relative accuracy. The absolute accuracy (i.e. position of the orbit in the vacuum chamber) is not very good due to the various reasons. To overcome the limitation it was suggested to use magnetic centers of quadrupoles for the calibration of the BPM [1]. The proposed method provides accuracy better then 200 microns for centering of the beam position monitors using modulation of the whole quadrupole family.

  16. Family Background and Entrepreneurship

    DEFF Research Database (Denmark)

    Lindquist, Matthew J.; Sol, Joeri; Van Praag, Mirjam;

    Vast amounts of money are currently being spent on policies aimed at promoting entrepreneurship. The success of such policies, however, rests in part on the assumption that individuals are not ‘born entrepreneurs’. In this paper, we assess the importance of family background and neighborhood...... effects as determinants of entrepreneurship. We start by estimating sibling correlations in entrepreneurship. We find that between 20 and 50 percent of the variance in different entrepreneurial outcomes is explained by factors that siblings share. The average is 28 percent. Allowing for differential...... entrepreneurship does play a large role, as do shared genes....

  17. Celibacy and Family Disruption

    Directory of Open Access Journals (Sweden)

    Emaletdinov B. M.

    2013-01-01

    Full Text Available Causes for celibacy, divorces and successful marriage are discussed in the article. Absence of true love and inability to build and keep it are the main reasons for family disruption. Amorousness, immature love and various forms of false or flawed love substitute the true feeling. It is caused by increased women’s independence, loss of mutual understanding and trust (due to infidelity or jealousy, incompatibility of characters or values. Celibacy is often conditioned by physical disability, revaluation of freedom and independence, huge requirements to partners, consumer attitude to life, infertility, alcohol and drug abuse, abnormalities in personality and sexuality.

  18. Artefacts and Family Resemblance

    OpenAIRE

    Garbacz, Pawel

    2013-01-01

    I develop in this paper a conception of artefacts based on L. Wittgenstein’s idea of family resemblance. My approach peruses the notion of frame, which was invented in cognitive psychology as an operationisable extension of this philosophical idea. Following the metaphor of life-cycle I show how this schematic notion of frame may be filled with the content relevant for artefacts if we consider them from the point of view of their histories. The resulting conception of artefacts provides a new...

  19. Family Ties and Civic Virtues

    DEFF Research Database (Denmark)

    Ljunge, Jan Martin

    I establish a positive relationship between family ties and civic virtues, as captured by disapproval of tax and benefit cheating, corruption, and a range of other dimensions of exploiting others for personal gain. I find that family ties are a complement to social capital, using within country...... evidence from 83 nations and data on second generation immigrants in 29 countries with ancestry in 85 nations. Strong families cultivate universalist values and produce more civic and altruistic individuals. The results provide a constructive role for families in promoting family values that support...

  20. Nursing support of family caregivers.

    Science.gov (United States)

    Brackley, M H; Meadows, R F

    1989-01-01

    The relationship between caregiver and elder is a unique one. It cannot be compared to a mother-infant dyad; there is no role reversal. Family caregiving is undertaken out of a sense of filial obligation on the family's part coupled with the needs of the elderly person. The relationship that emerges is based on the dependency of one adult on another and is functional for the family and for society at large. We need families to continue to care for their elderly members at home and families need us to insure their survival. We must constantly be aware that care needs increase over the years, whereas family resources do not. Nursing by its very nature is tied to insuring that families are given the guidance and assistance with which to meet these needs. PMID:2789693

  1. Juvenile Delinquency and Family Structure

    Directory of Open Access Journals (Sweden)

    Miguel Alberto Ramírez Villaseñor

    2001-07-01

    Full Text Available The present study is an analysis of twelve family structure variables in a sample of 250 under-age offenders' families. All families had been remitted to the Parents Group at the Behavioral Control Clinic between February and September, 1988, charged with theft and/or drug abuse. There are certain factors in those families ( such as immigration, the attributed value of the identified patient, his adolescent stage, the presence of extensive family members and a dead brother that seem to decide the symptomatology even more than other frequently mentioned variables (i.e., parents civil status, separations, divorces, new marriages, mother's occupation. The detected family structure seems to show a very close link between mother and identified patient that displaces the father to the system's periphery. We consider that this form of family structure leads to situations such as single mothers or promiscuous daughters who show similar symptoms to those shown in the identified patient.

  2. Family medicine in Cuba

    Directory of Open Access Journals (Sweden)

    Eduardo Alemañy Pérez

    2013-04-01

    Full Text Available Over the past 50 years, the Cuban health system has been developing a roster of programs to ensure its social mission: to achieve a health status of the population consistent with the priority established by the highest authorities of the country. In response to the call of the Commander in Chief, Fidel Castro Ruz, to create a different doctor and a new specialist that would take into account the needs of the Cuban population; the family doctor model was implemented. Thus, in the decade of the eighties, the “Family Doctor and Nurse Working Program” was established, together with the corresponding polyclinic and hospital. At the same time, comprehensive general medicine as a medical specialty was created to serve the primary health care services. Both actions constituted a vital component in the development of Cuban public health services in recent decades. This article presents an account of the unique characteristics of these processes, while highlighting their impact on health indicators, as well as the participation of this specialty in the training of human resources for the health system.

  3. 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.

  4. Familial hypercholesterolemia: A review

    Directory of Open Access Journals (Sweden)

    Mithun J Varghese

    2014-01-01

    Full Text Available Familial hypercholesterolemia (FH is a genetic disorder of lipoprotein metabolism resulting in elevated serum low-density lipoprotein (LDL cholesterol levels leading to increased risk for premature cardiovascular diseases (CVDs. The diagnosis of this condition is based on clinical features, family history, and elevated LDL-cholesterol levels aided more recently by genetic testing. As the atherosclerotic burden is dependent on the degree and duration of exposure to raised LDL-cholesterol levels, early diagnosis and initiation of treatment is paramount. Statins are presently the mainstay in the management of these patients, although newer drugs, LDL apheresis, and other investigational therapies may play a role in certain subsets of FH, which are challenging to treat. Together these novel treatments have notably improved the prognosis of FH, especially that of the heterozygous patients. Despite these achievements, a majority of children fail to attain targeted lipid goals owing to persistent shortcomings in diagnosis, monitoring, and treatment. This review aims to highlight the screening, diagnosis, goals of therapy, and management options in patients with FH.

  5. Familial hypercholesterolemia: A review

    International Nuclear Information System (INIS)

    Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism resulting in elevated serum low-density lipoprotein (LDL) cholesterol levels leading to increased risk for premature cardiovascular diseases (CVDs). The diagnosis of this condition is based on clinical features, family history, and elevated LDL-cholesterol levels aided more recently by genetic testing. As the atherosclerotic burden is dependent on the degree and duration of exposure to raised LDL-cholesterol levels, early diagnosis and initiation of treatment is paramount. Statins are presently the mainstay in the management of these patients, although newer drugs, LDL apheresis, and other investigational therapies may play a role in certain subsets of FH, which are challenging to treat. Together these novel treatments have notably improved the prognosis of FH, especially that of the heterozygous patients. Despite these achievements, a majority of children fail to attain targeted lipid goals owing to persistent shortcomings in diagnosis, monitoring, and treatment. This review aims to highlight the screening, diagnosis, goals of therapy, and management options in patients with FH

  6. A compact SADM family

    Science.gov (United States)

    Barbet, Vincent; Le Quintrec, Cyrille; Jeandot, Xavier; Chaix, Alain; Grain, Eric; Roux, Jerome

    2005-07-01

    Alcatel Space has developed a new SADM family driven by cost, modularity, mass and performances. The modularity concept is based on separating the rotation drive function from the electrical transfer function. The drive actuator has been designed for various applications where pointing and reliability is needed. It can be associated with high dissipative rotary devices (SA collectors, RF joints..). The design goal was to minimize the number of parts in order to reach the most simple and compact mechanism. Mass reduction was achieved by reducing as much as possible the load path between the Solar Array interface and the spacecraft interface. Following these guidelines, the drive actuator was developed and qualified on ATV SADM (part od Alcatel Space Solar Array Drive Sub System for ATV). Further more a high power integrated collector was qualified inside the SADM for Geo-stationary telecom satellite (SPACEBUS platforms). Fine thermal and mechanical modeling was necessary to predict SADM behaviors for the numerous thermal environments over the missions (steady and transient cases). These modeling were well correlated through mechanical and thermal balances qualification tests. The challenging approach of thermal dissipation in a compact design leads to a family of 3 SADM capabilities form 2kW up to 15kW per SADM weighing less than 4.5 kg each.

  7. Family pediatrics: report of the Task Force on the Family.

    Science.gov (United States)

    Schor, Edward L

    2003-06-01

    WHY A TASK FORCE ON THE FAMILY? The practice of pediatrics is unique among medical specialties in many ways, among which is the nearly certain presence of a parent when health care services are provided for the patient. Regardless of whether parents or other family members are physically present, their influence is pervasive. Families are the most central and enduring influence in children's lives. Parents are also central in pediatric care. The health and well-being of children are inextricably linked to their parents' physical, emotional and social health, social circumstances, and child-rearing practices. The rising incidence of behavior problems among children attests to some families' inability to cope with the increasing stresses they are experiencing and their need for assistance. When a family's distress finds its voice in a child's symptoms, pediatricians are often parents' first source for help. There is enormous diversity among families-diversity in the composition of families, in their ethnic and racial heritage, in their religious and spiritual orientation, in how they communicate, in the time they spend together, in their commitment to individual family members, in their connections to their community, in their experiences, and in their ability to adapt to stress. Within families, individuals are different from one another as well. Pediatricians are especially sensitive to differences among children-in their temperaments and personalities, in their innate and learned abilities, and in how they view themselves and respond to the world around them. It is remarkable and a testament to the effort of parents and to the resilience of children that most families function well and most children succeed in life. Family life in the United States has been subjected to extensive scrutiny and frequent commentary, yet even when those activities have been informed by research, they tend to be influenced by personal experience within families and by individual and

  8. Family pediatrics: report of the Task Force on the Family.

    Science.gov (United States)

    Schor, Edward L

    2003-06-01

    WHY A TASK FORCE ON THE FAMILY? The practice of pediatrics is unique among medical specialties in many ways, among which is the nearly certain presence of a parent when health care services are provided for the patient. Regardless of whether parents or other family members are physically present, their influence is pervasive. Families are the most central and enduring influence in children's lives. Parents are also central in pediatric care. The health and well-being of children are inextricably linked to their parents' physical, emotional and social health, social circumstances, and child-rearing practices. The rising incidence of behavior problems among children attests to some families' inability to cope with the increasing stresses they are experiencing and their need for assistance. When a family's distress finds its voice in a child's symptoms, pediatricians are often parents' first source for help. There is enormous diversity among families-diversity in the composition of families, in their ethnic and racial heritage, in their religious and spiritual orientation, in how they communicate, in the time they spend together, in their commitment to individual family members, in their connections to their community, in their experiences, and in their ability to adapt to stress. Within families, individuals are different from one another as well. Pediatricians are especially sensitive to differences among children-in their temperaments and personalities, in their innate and learned abilities, and in how they view themselves and respond to the world around them. It is remarkable and a testament to the effort of parents and to the resilience of children that most families function well and most children succeed in life. Family life in the United States has been subjected to extensive scrutiny and frequent commentary, yet even when those activities have been informed by research, they tend to be influenced by personal experience within families and by individual and

  9. Genetic analysis of familial spontaneous pneumothorax in an Indian family.

    Science.gov (United States)

    Ray, Anindita; Paul, Suman; Chattopadhyay, Esita; Kundu, Susmita; Roy, Bidyut

    2015-06-01

    Familial spontaneous pneumothorax is one of the phenotypes of Birt-Hogg-Dubé syndrome (BHDS), an autosomal dominant condition associated with folliculin (FLCN). We investigated clinical and genetic data of an Indian family having two patients suffering from spontaneous pneumothorax in the absence of skin lesions or renal tumors. HRCT scan of patient's lung revealed paracardiac cysts, and DNA sequencing of all 14 exons of FLCN from patients showed the presence of heterozygous "C allele" deletion in the poly-cytosine (poly-C) tract of exon 11 leading to truncated folliculin. This mutation was also observed in four asymptomatic members of the family. Our results confirmed the presence of deletion mutation in poly-C tract of FLCN in members of BHDS family. This is the first report of genetic insight in a BHDS family from India but in-depth studies with a larger sample set are necessary to understand mechanism of familial pneumothorax.

  10. Family Science Night: Changing Perceptions One Family at a Time

    Science.gov (United States)

    Pesnell, W. D.; Drobnes, E.; Mitchell, S.; Colina-Trujillo, M.

    2007-01-01

    If students are not encouraged to succeed in science, mathematics, and technology classes at school, efforts to improve the quality of content and teaching in these subjects may be futile. Parents and families are in a unique position to encourage children to enroll and achieve in these classes. The NASA Goddard Space Flight Center Family Science Night program invites middle school students and their families to explore the importance of science and technology in our daily lives by providing a venue for families to comfortably engage in learning activities that change their perception and understanding of science - making it more practical and approachable for participants of all ages. Family Science Night strives to change the way that students and their families participate in science, within the program and beyond.

  11. Family Ties: The Role of Family Context in Family Health History Communication About Cancer.

    Science.gov (United States)

    Rodríguez, Vivian M; Corona, Rosalie; Bodurtha, Joann N; Quillin, John M

    2016-01-01

    Family health history about cancer is an important prevention and health promotion tool. Yet few studies have identified family context factors that promote such discussions. We explored relations among family context (cohesion, flexibility, and openness), self-efficacy, and cancer communication (gathering family history, sharing cancer risk information, and frequency) in a diverse group of women enrolled in a randomized control trial. Baseline survey data for 472 women were analyzed. The women's average age was 34 years, 59% identified as Black, 31% had graduated high school, and 75% reported a family history of any cancer. Results showed that greater family cohesion and flexibility were related to higher communication frequency and sharing cancer information. Women who reported greater self-efficacy were more likely to have gathered family history, shared cancer risk information, and communicated more frequently with relatives. Openness was not associated with communication but was related to greater family cohesion and flexibility. Adjusting for demographic variables, self-efficacy, and family cohesion significantly predicted communication frequency. Women with higher self-efficacy were also more likely to have gathered family health history about cancer and shared cancer risk information. Future research may benefit from considering family organization and self-efficacy when developing psychosocial theories that in turn inform cancer prevention interventions.

  12. Family Ties: The Role of Family Context in Family Health History Communication About Cancer.

    Science.gov (United States)

    Rodríguez, Vivian M; Corona, Rosalie; Bodurtha, Joann N; Quillin, John M

    2016-01-01

    Family health history about cancer is an important prevention and health promotion tool. Yet few studies have identified family context factors that promote such discussions. We explored relations among family context (cohesion, flexibility, and openness), self-efficacy, and cancer communication (gathering family history, sharing cancer risk information, and frequency) in a diverse group of women enrolled in a randomized control trial. Baseline survey data for 472 women were analyzed. The women's average age was 34 years, 59% identified as Black, 31% had graduated high school, and 75% reported a family history of any cancer. Results showed that greater family cohesion and flexibility were related to higher communication frequency and sharing cancer information. Women who reported greater self-efficacy were more likely to have gathered family history, shared cancer risk information, and communicated more frequently with relatives. Openness was not associated with communication but was related to greater family cohesion and flexibility. Adjusting for demographic variables, self-efficacy, and family cohesion significantly predicted communication frequency. Women with higher self-efficacy were also more likely to have gathered family health history about cancer and shared cancer risk information. Future research may benefit from considering family organization and self-efficacy when developing psychosocial theories that in turn inform cancer prevention interventions. PMID:26735646

  13. The Family, Family Therapy, and Borderline Personality Disorder

    OpenAIRE

    Glick, Ira D.; DULIT, REBECCA A.; WACHTER, EILEEN; CLARKIN, JOHN F.

    1995-01-01

    The authors review recent controlled studies on the interrelationship of the family and its members with borderline disorder and propose a new model for understanding and managing this relationship. The focus of the model is on psychopathology, evaluation, and treatment of patient and family as they influence each other. In the authors’ view this illness originates in cerebral dysfunction, in the patient in combination with impaired relationships among family members. When t...

  14. Measures of value in acquisitions : Family versus non family firms

    OpenAIRE

    Granata, Darya; Chirico, Francesco

    2010-01-01

    This article sheds light on the valuation of family firms when compared with nonfamily firms as acquisition targets. The authors argue that although the majority of theoretical and empirical research explicitly recognizes the prevalence and superior performance of family firms around the world, acquiring companies tend to regard family firms as unprofessional and inefficient organizations, thus negatively affecting their valuation when compared with nonfamily firm targets. Overall, the author...

  15. Familial Pancreatic Cancer

    Directory of Open Access Journals (Sweden)

    Stephen J. Lanspa

    2010-11-01

    Full Text Available Pancreatic cancer’s high mortality rate equates closely with its incidence, thereby showing the need for development of biomarkers of its increased risk and a better understanding of its genetics, so that high-risk patients can be better targeted for screening and early potential lifesaving diagnosis. Its phenotypic and genotypic heterogeneity is extensive and requires careful scrutiny of its pattern of cancer associations, such as malignant melanoma associated with pancreatic cancer, in the familial atypical multiple mole melanoma syndrome, due to the CDKN2A germline mutation. This review is designed to depict several of the hereditary pancreatic cancer syndromes with particular attention given to the clinical application of this knowledge into improved control of pancreatic cancer.

  16. Product Family Assessment

    DEFF Research Database (Denmark)

    Kvist, Morten

    of the business. Hereby the model supports assessment of the elements in the product family and identification of the good solutions which can be included and the more unfortunate elements that should be avoided in a future product design. The research builds on engineering design science research literature...... and on the ideas of lean production, plus experiences from the industrial collaboration. The idea of waste from the lean philosophy is brought into a product variety context, and discussed in relation to product development. Verification of the model has been carried out in an industrial setting at Danfoss...... Automatic Controls. Furthermore, the research has been reviewed by a panel of academic researchers and industrial practitioners as well as through discussion in academic communities. The overall response to the tool has been positive and the single case study at Danfoss reports good usefulness and results....

  17. Familial nevus of ota

    Directory of Open Access Journals (Sweden)

    Kumari Rashmi

    2006-01-01

    Full Text Available A 23-year-old pregnant woman with an asymptomatic unilateral, bluish, pigmented lesion on her left periocular skin was referred from the obstetrics department for dermatological evaluation. Dermatologic examination revealed unilateral, blue-gray, poorly defined macule on the periorbital skin of the left side of the face mainly over the malar prominence and left temple not crossing the midline, conforming to the maxillary division of trigeminal nerve distribution. The pigmentation was speckled with interspersed dark-brownish elements. Her father, a 47 - year- old man had a similar pigmentation at the same site over the malar prominence of face not extending onto the forehead. Here we report two cases of nevus of Ota occurring in 2 generations of the same family for its rarity.

  18. Why family planning matters.

    Science.gov (United States)

    Jensen, Jeffrey T

    2011-06-01

    Family planning is one of the principle tools of human development. Ensuring that all babies are wanted and planned reduces health care and social costs. Human numbers will increase to 11 billion by the end of this century, and human activities are the leading cause of environmental change that threaten our health and happiness. Therefore, the provision of highly effective contraceptive methods represents an important priority of primary medical care. Since women and men with complicated medical problems remain interested in sex, medical and surgical specialists need to understand how contraception and pregnancy will interact with the underlying condition. This paper discusses the interaction between population growth and the environment, and reviews modern methods of contraception.

  19. Familial hemiplegic migraine.

    Science.gov (United States)

    Hansen, Jakob Møller

    2010-09-01

    Familial hemiplegic migraine (FHM) is a rare, dominantly inherited subtype of migraine with aura, where hemiplegia occurs during the aura phase. Mutation screening of families with FHM has revealed a range of different mutations. The mutated FHM genes code for ion transport proteins. Animal and cellular studies have associated the mutated FHM genes with disturbed ion homeostasis, altered cellular excitability and altered neurotransmitter release. Abnormal cortical excitability due to dysfunctional ion-channels might facilitate cortical spreading depression (CSD) and thereby migraine aura and migraine headache. Genotyped FHM patients offer us the chance to study the interplay between genotype and phenotype and may be regarded as a genetic migraine model. FHM studies might open for a better understanding of the molecular migraine pathology, and potentially help to unravel the pathogenesis of the more common migraine forms. We have therefore studied genotyped FHM patients to understand the effect of genotype on the response to migraine provoking substances. We show here that two known migraine triggers failed to induce more migraine aura or migraine headache in FHM-patients than in healthy controls, thus indicating that the FHM genotype does not confer hypersensitivity to these migraine triggers. This has implications for our understanding of the headache mechanisms and raises the question whether FHM share neurobiological background with the common types of migraine. The aims of the present thesis were to test the hypothesis that FHM mutations might be associated with hypersensitivity to known migraine triggers and, thereby, share pathophysiological pathways with the common types of migraine, but our results disprove this hypothesis. Thus, FHM seems very different from MO and MA, both genetically and pathophysiologically. The fact that FHM genes regulate ion homeostasis cannot be extrapolated to the common types of migraine.

  20. Family, Wealth, and Governance: An Agency Account

    OpenAIRE

    Zellweger, Thomas; Kammerlander, Nadine

    2015-01-01

    Family firms often evolve into ownership constellations with multiple family owners. Building on agency theory, we argue that the growing complexity within a group of family blockholders gives rise to what we label family blockholder conflicts, defined as conflicts within a group of family owners. To curb family blockholder conflicts, families often separate the family from its assets and install intermediary governance structures. We explore four frequently applied structures (uncoordinated ...

  1. Familial Chiari malformation: case series.

    Science.gov (United States)

    Schanker, Benjamin D; Walcott, Brian P; Nahed, Brian V; Kahle, Kristopher T; Li, Yan Michael; Coumans, Jean-Valery C E

    2011-09-01

    Chiari malformations (Types I-IV) are abnormalities of the posterior fossa that affect the cerebellum, brainstem, and the spinal cord with prevalence rates of 0.1%-0.5%. Case reports of familial aggregation of Chiari malformation, twin studies, cosegregation of Chiari malformation with known genetic conditions, and recent gene and genome-wide association studies provide strong evidence of the genetic underpinnings of familial Chiari malformation. The authors report on a series of 3 family pairs with Chiari malformation Type I: 2 mother-daughter pairs and 1 father-daughter pair. The specific genetic causes of familial Chiari malformation have yet to be fully elucidated. The authors review the literature and discuss several candidate genes. Recent advances in the understanding of the genetic influences and pathogenesis of familial Chiari malformation are expected to improve management of affected patients and monitoring of at-risk family members.

  2. Spectroscopy of family gauge bosons

    International Nuclear Information System (INIS)

    Spectroscopy of family gauge bosons is investigated based on a U(3) family gauge boson model proposed by Sumino. In his model, the family gauge bosons are in mass eigenstates in a diagonal basis of the charged lepton mass matrix. Therefore, the family numbers are defined by (e1,e2,e3)=(e,μ,τ), while the assignment for quark sector are free. For possible family-number assignments (q1,q2,q3), under a constraint from K0–K¯0 mixing, we investigate possibilities of new physics, e.g. production of the lightest family gauge boson at the LHC, μ−N→e−N, rare K and B decays, and so on.

  3. On the Astrid asteroid family

    CERN Document Server

    Carruba, V

    2016-01-01

    Among asteroid families, the Astrid family is peculiar because of its unusual inclination distribution. Objects at $a\\simeq$~2.764 au are quite dispersed in this orbital element, giving the family a "crab-like" appearance. Recent works showed that this feature is caused by the interaction of the family with the $s-s_C$ nodal secular resonance with Ceres, that spreads the inclination of asteroids near its separatrix. As a consequence, the currently observed distribution of the $v_W$ component of terminal ejection velocities obtained from inverting Gauss equation is quite leptokurtic, since this parameter mostly depends on the asteroids inclination. The peculiar orbital configuration of the Astrid family can be used to set constraints on key parameters describing the strength of the Yarkovsky force, such as the bulk and surface density and the thermal conductivity of surface material. By simulating various fictitious families with different values of these parameters, and by demanding that the current value of ...

  4. Selected Internet Resources on Family History.

    Science.gov (United States)

    Mintz, Steven

    2001-01-01

    Provides a list of Internet resources on family history that cover topics such as colonial families, shifting family ideals, families in the Early Republic, families in bondage, westward migration, families during the Great Depression, journals, reference sources, and lesson plans. (CMK)

  5. 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.

  6. Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis

    Science.gov (United States)

    Obici, Laura; Kuks, Jan B.; Buades, Juan; Adams, David; Suhr, Ole B.; Coelho, Teresa; Kyriakides, Theodore

    2016-01-01

    Purpose of review These recommendations highlight recent experience in genetic counselling for the severe autosomal-dominant, late-onset transthyretin familial amyloid polyneuropathy (TTR-FAP) disease, and present a structured approach towards identification and monitoring of asymptomatic carriers of the mutated gene. Recent findings The effectiveness of current treatment options is still limited in patients with TTR-FAP beyond stage I. Diagnosis in the early stages of TTR-FAP is essential to prevent or delay the progression of disease. Existing legal and cultural issues differ among countries within Europe. Experts of the European Network for TTR-FAP (ATTReuNET) concluded that genetic counselling for diagnosed individuals and at-risk family members is mostly beneficial and should be carried out with care by trained professionals. Systematic and regular monitoring of an asymptomatic carrier is necessary to detect early signs of TTR-FAP and maximize the effectiveness of treatment. This includes five areas of assessment: history/clinical examination, sensorimotor function, autonomic dysfunction, cardiac function, and renal function. At least two related symptoms and positive biopsy findings are required to confirm diagnosis of TTR-FAP. Summary Early detection of TTR-FAP is essential to improve the prognosis of TTR-FAP. ATTReuNET recommends genetic counselling and routine monitoring for asymptomatic carriers of TTR-FAP. PMID:26734953

  7. Pseudoexfoliation syndrome in Icelandic families

    OpenAIRE

    Allingham, R; Loftsdottir, M.; Gottfredsdottir, M. S.; Thorgeirsson, E.; Jonasson, F; Sverisson, T.; Hodge, W.; Damji, K.; Stefansson, E.

    2001-01-01

    AIM—To examine the distribution and clinical ophthalmic characteristics of pseudoexfoliation syndrome (pseudoexfoliation) and glaucoma in Icelandic families.
METHODS—Icelandic families containing three or more members aged 70 or older with at least one member with pseudoexfoliation were indentified. All family members over age 45 were invited to participate. Visual acuity, Goldmann applanation tonometry, gonioscopy, slit lamp examination before and after dilatation, and dilated fundus examina...

  8. The family Asteraceae: General introduction

    Directory of Open Access Journals (Sweden)

    P. P. J. Herman

    2000-07-01

    Full Text Available The family Asteraceae (the daisy family is probably the largest plant family in the world. It is cosmopolitan in distribution and is economically important as many members are used for food, medicinal purposes, grazing for stock, or ornamentals, while some are troublesome weeds or poisonous to animals. The ‘flower ’is actually a collection of flowers grouped together to form a capitulum.

  9. FAMILY ENTERPRISES, INSTITUTIONALIZATION AND NEPOTISM

    OpenAIRE

    YÜCEL, İlhami; Özkalan, Sena Özge

    2012-01-01

    It is now more important than ever before to manage and pass the familybusinesses on to next generations successfully since they play a key role in theeconomies of countries worldwide. Today one of the most important problems thatfamily businesses encounter today is institutionalization levels of them, and of allthe issues facing family businesses for ensuring institutionalization, the mostimportant one is nepotism. In family businesses, in which job-family factors areintertwined, people who ...

  10. Coming Out: One Family's Story

    OpenAIRE

    Baptist, Joyce Alexandria

    2002-01-01

    This case study elicits the process of coming out of a 6 member family-of-choice of an adult gay man in rural New Hampshire. 27.5 hours of face-to-face interviews were conducted with the family individually and collectively. Reflexivity, as a technique, was used extensively. Four themes were identified: Embracing gay identity, integrating as a family, building social networks, and social awakening. This study addresses the complexities of how multiple individuals negotiate rules and accommoda...

  11. STRATEGIC ENTREPRENEURSHIP IN FAMILY BUSINESS

    OpenAIRE

    G.T. LUMPKIN; L. STEIER; Wright, M

    2012-01-01

    The purpose of this special issue is to promote research on the role of family in nurturing entrepreneurial ventures as well as on the importance of strategic entrepreneurship in maintaining the strength and viability of established and multigenerational family firms. Two related research questions are at the heart of this inquiry: (1) In what ways does the influence of family matter to strategic entrepreneurship?; and (2) How can strategic entrepreneurship contribute to understanding and str...

  12. Functional models for Nevanlinna families

    Directory of Open Access Journals (Sweden)

    Jussi Behrndt

    2008-01-01

    Full Text Available The class of Nevanlinna families consists of \\(\\mathbb{R}\\-symmetric holomorphic multivalued functions on \\(\\mathbb{C} \\setminus \\mathbb{R}\\ with maximal dissipative (maximal accumulative values on \\(\\mathbb{C}_{+}\\ (\\(\\mathbb{C}_{-}\\, respectively and is a generalization of the class of operator-valued Nevanlinna functions. In this note Nevanlinna families are realized as Weyl families of boundary relations induced by multiplication operators with the independent variable in reproducing kernel Hilbert spaces.

  13. Childhood disablement and family incomes.

    OpenAIRE

    Baldwin, S.; Godfrey, C; F. Van Staden

    1983-01-01

    Data on the incomes of families with a severely disabled child were obtained by replicating the Family Expenditure Survey. These data were compared with income data from a control group of families with children, drawn from the FES for the same period. The participation rates, hours, and earnings of the women with a disabled child were all found to be substantially lower than those of women in the control group, differences between the samples increasing with the age of the youngest child. Th...

  14. Policy implications for familial searching

    Directory of Open Access Journals (Sweden)

    Kim Joyce

    2011-11-01

    Full Text Available Abstract In the United States, several states have made policy decisions regarding whether and how to use familial searching of the Combined DNA Index System (CODIS database in criminal investigations. Familial searching pushes DNA typing beyond merely identifying individuals to detecting genetic relatedness, an application previously reserved for missing persons identifications and custody battles. The intentional search of CODIS for partial matches to an item of evidence offers law enforcement agencies a powerful tool for developing investigative leads, apprehending criminals, revitalizing cold cases and exonerating wrongfully convicted individuals. As familial searching involves a range of logistical, social, ethical and legal considerations, states are now grappling with policy options for implementing familial searching to balance crime fighting with its potential impact on society. When developing policies for familial searching, legislators should take into account the impact of familial searching on select populations and the need to minimize personal intrusion on relatives of individuals in the DNA database. This review describes the approaches used to narrow a suspect pool from a partial match search of CODIS and summarizes the economic, ethical, logistical and political challenges of implementing familial searching. We examine particular US state policies and the policy options adopted to address these issues. The aim of this review is to provide objective background information on the controversial approach of familial searching to inform policy decisions in this area. Herein we highlight key policy options and recommendations regarding effective utilization of familial searching that minimize harm to and afford maximum protection of US citizens.

  15. THE CHALLENGES OF FAMILY BUSINESS

    Directory of Open Access Journals (Sweden)

    Stoilkovska Aleksandra

    2011-12-01

    Full Text Available Small businesses give a lot of possibilities for realization of your own creativity and inventivity. Employment of new family members creates work atmosphere that cannot be felt in other companies. Organizational culture results from the employee cohesion and from their devotion to the organization and to the work, and therefore cannot be achieved in other organizations and with any other motivational techniques. These excellent working conditions are a great base for fulfilling the organizational aims, as well as for united and satisfied family. The work in the family organizations is specific from two aspects: from the advantages that it offers and from the problems that arise from this kind of business. Knowing the conditions in the family business, i.e. knowing the factors that influence the effectiveness and efficiency of family business enables more efficient work. Family business development with change of generation or with the increase in the number of family members brings new moments. In addition, one good story can be transformed in an unpleasant conflict and can get to disunion in the family as well in the business. Knowing the possibilities and threats in connection to the factors that influence the family business enables preventive actions in order to avoid undesirable situations.

  16. 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…

  17. Type Families with Class, Type Classes with Family

    DEFF Research Database (Denmark)

    Serrano, Alejandro; Hage, Jurriaan; Bahr, Patrick

    2015-01-01

    Type classes and type families are key ingredients in Haskell programming. Type classes were introduced to deal with ad-hoc polymorphism, although with the introduction of functional dependencies, their use expanded to type-level programming. Type families also allow encoding type-level functions...

  18. Family Dynamics, Preschoolers' Family Representations, and Preschool Peer Relationships.

    Science.gov (United States)

    McHale, James P.; Johnson, Dannie; Sinclair, Robert

    1999-01-01

    Studied whether co-parenting and family-group process influence early social competence. Found indirect pathways linking low levels of support and mutuality in the co-parenting relationship to problematic peer relationships, and direct pathways linking the family's affective climate to positive peer behavior. Discovered that effects were strongest…

  19. Family Connections: Family Conversations in Informal Learning Environments

    Science.gov (United States)

    Riedinger, Kelly

    2012-01-01

    This article begins with two examples that demonstrate adult interactions with young learners during conversations in informal learning environments. Family visits to informal learning environments provide opportunities to learn together, interact, engage in conversations, and learn more about one another. This article explores family learning in…

  20. "Family Matters:" Fetal Alcohol Spectrum Disorders and the Family

    Science.gov (United States)

    Olson, Heather Carmichael; Oti, Rosalind; Gelo, Julie; Beck, Sharon

    2009-01-01

    Information about "family matters" is vital to developing targeted interventions, reducing placement disruption, and enhancing outcome in fetal alcohol spectrum disorders (FASD). The quality of the caregiving environment and family function are associated with long-term outcome in natural history study of individuals with FASD. This article…

  1. The Role of Family Functioning in Bipolar Disorder in Families

    Science.gov (United States)

    Du Rocher Schudlich, Tina D.; Youngstrom, Eric A.; Calabrese, Joseph R.; Findling, Robert L.

    2008-01-01

    Investigated the association between family functioning and conflict and their links with mood disorder in parents and with children's risk for bipolar disorder. Participants were 272 families with a child between the ages of 5-17 years. Parents' history of psychiatric diagnoses and children's current diagnoses were obtained via semi-structured…

  2. Celebrating Families: An Inclusive Model of Family-Centred Training

    Science.gov (United States)

    Carpenter, Barry; Addenbrooke, Mandy; Attfield, Elizabeth; Conway, Sally

    2004-01-01

    This article describes an innovative week of training days, entitled Celebrating Families, which took place at Sunfield, Worcestershire, in July 2002. The week, for and around families of children with special needs, arose from a shared vision and philosophy held by three host organisations. Representatives of all three organisations have…

  3. Progressive familial intrahepatic cholestasis

    Directory of Open Access Journals (Sweden)

    Baussan Christiane

    2009-01-01

    Full Text Available Abstract Progressive familial intrahepatic cholestasis (PFIC refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and related to mutations in hepatocellular transport system genes involved in bile formation. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood. Main clinical manifestations include cholestasis, pruritus and jaundice. PFIC patients usually develop fibrosis and end-stage liver disease before adulthood. Serum gamma-glutamyltransferase (GGT activity is normal in PFIC1 and PFIC2 patients, but is elevated in PFIC3 patients. Both PFIC1 and PFIC2 are caused by impaired bile salt secretion due respectively to defects in ATP8B1 encoding the FIC1 protein, and in ABCB11 encoding the bile salt export pump protein (BSEP. Defects in ABCB4, encoding the multi-drug resistant 3 protein (MDR3, impair biliary phospholipid secretion resulting in PFIC3. Diagnosis is based on clinical manifestations, liver ultrasonography, cholangiography and liver histology, as well as on specific tests for excluding other causes of childhood cholestasis. MDR3 and BSEP liver immunostaining, and analysis of biliary lipid composition should help to select PFIC candidates in whom genotyping could be proposed to confirm the diagnosis. Antenatal diagnosis can be proposed for affected families in which a mutation has been identified. Ursodeoxycholic acid (UDCA therapy should be initiated in all patients to prevent liver damage. In some PFIC1 or PFIC2 patients, biliary diversion can also relieve pruritus and slow disease progression. However, most PFIC patients are ultimately candidates for liver transplantation

  4. The Caenorhabditis chemoreceptor gene families

    Directory of Open Access Journals (Sweden)

    Robertson Hugh M

    2008-10-01

    Full Text Available Abstract Background Chemoreceptor proteins mediate the first step in the transduction of environmental chemical stimuli, defining the breadth of detection and conferring stimulus specificity. Animal genomes contain families of genes encoding chemoreceptors that mediate taste, olfaction, and pheromone responses. The size and diversity of these families reflect the biology of chemoperception in specific species. Results Based on manual curation and sequence comparisons among putative G-protein-coupled chemoreceptor genes in the nematode Caenorhabditis elegans, we identified approximately 1300 genes and 400 pseudogenes in the 19 largest gene families, most of which fall into larger superfamilies. In the related species C. briggsae and C. remanei, we identified most or all genes in each of the 19 families. For most families, C. elegans has the largest number of genes and C. briggsae the smallest number, suggesting changes in the importance of chemoperception among the species. Protein trees reveal family-specific and species-specific patterns of gene duplication and gene loss. The frequency of strict orthologs varies among the families, from just over 50% in two families to less than 5% in three families. Several families include large species-specific expansions, mostly in C. elegans and C. remanei. Conclusion Chemoreceptor gene families in Caenorhabditis species are large and evolutionarily dynamic as a result of gene duplication and gene loss. These dynamics shape the chemoreceptor gene complements in Caenorhabditis species and define the receptor space available for chemosensory responses. To explain these patterns, we propose the gray pawn hypothesis: individual genes are of little significance, but the aggregate of a large number of diverse genes is required to cover a large phenotype space.

  5. A growing family

    CERN Multimedia

    2012-01-01

    Increasing membership of the CERN family featured strongly at the CERN Council meetings this week, with Serbia’s ratification documents being received along with an application for Associate Membership from Ukraine. We also learned that an official application is on its way from Brazil and I can report that discussions are ongoing with several other countries around the world.   Serbia joins Israel as an Associate Member in the pre-stage to Membership, and since Yugoslavia was a founder member of CERN in 1954, it was good to welcome Belgrade back. Looking forward, the Council has agreed to set up fast fact finding missions to other applicant countries, so I think it’s fair to say that 2012 will be a year of growth for CERN, fulfilling our mission of science bringing nations together. In a similar vein, it was a pleasure for me to be able to report to the Council an important development at SESAME, the light source for the Middle East established in Jordan on the CERN mode...

  6. Family Mentoring: A Life Experience.

    Science.gov (United States)

    Whitman, Brenda; Perrin, Kathy Riske; Knudson-Buresh, Alana

    2002-01-01

    Pre/posttest data from 84 nursing, occupational therapy, physical therapy, and social work students who were mentored by families of children with special needs indicated an increase in family-centered attitudes, understanding, and respect among these future service providers. (SK)

  7. Family Kindergarten = Kinder para familias.

    Science.gov (United States)

    Curtin, Jolinda

    The Family Kindergarten program designed and pilot tested by a bilingual kindergarten teacher at Garretson Elementary School in Corona, California, is described. Based on the premise that parents are the most important and influential educators of children, Family Kindergarten was conceived as an evening class that includes parents and children…

  8. The Family in Value Orientations

    Science.gov (United States)

    Lezhnina, Iu. P.

    2011-01-01

    Russia's declining birth rate is linked to a delay in a family's decision to have children and to uncertainty about the place of children in a couple's relationship. Despite the rise of individualism and the importance of career and self-realization, however, the family retains a very important place in Russian society. (Contains 1 table, 1…

  9. Family Medicine's Waltz with Systems

    Science.gov (United States)

    Downing, Raymond

    2012-01-01

    Family Medicine first formally confronted systems thinking with the adoption of the biopsychosocial model for understanding disease in a holistic manner; this is a description of a natural system. More recently, Family Medicine has been consciously engaged in developing itself as a system for delivering health care, an artificial system. We make…

  10. Family needs after brain injury

    DEFF Research Database (Denmark)

    Norup, Anne; Perrin, Paul B; Cuberos-Urbano, Gustavo;

    2015-01-01

    OBJECTIVE: The objective of this study was to explore differences by country in the importance of family needs after traumatic brain injury (TBI), as well as differences in met/unmet needs. METHOD: Two hundred and seventy-one family members of an individual with TBI in Mexico, Colombia, Spain...

  11. Familial pancreatic cancer: genetic advances

    OpenAIRE

    Rustgi, Anil K.

    2014-01-01

    This review by Rustgi elaborates on the known genetic syndromes that underlie familial pancreatic cancer. It aims to delineate the subtypes of syndromic hereditary pancreatic cancer in which germline genetic mutations have been identified and nonsyndromic familial pancreatic cancer in which genetic information is emerging.

  12. One Family's Struggles with Shingles

    Medline Plus

    Full Text Available Immunizations Shingles One family's struggles with shingles We provide this video in a variety of formats and lengths for use by your organization ... Immunizations stop disease from spreading. Check with your family doctor to see if you could benefit. Copyright ...

  13. One Family's Struggles with Rotavirus

    Medline Plus

    Full Text Available Immunizations Rotavirus One family's struggles with rotavirus We provide this video in a variety of formats and lengths for use by your organization ... Immunizations stop disease from spreading. Check with your family doctor to see if you could benefit. Copyright ...

  14. Using Dreams in Family Therapy.

    Science.gov (United States)

    Kane, Connie M.

    1997-01-01

    States that current literature suggests that dreams are seldom used by marriage and family therapists, yet dreams can be powerful tools in therapeutic treatment. Includes clinical examples that demonstrate the effective use of dreams in marriage and family therapy. Discusses the interface between dream interpretation and systems therapy. (MKA)

  15. Family Assessment and Genetic Counseling.

    Science.gov (United States)

    Carpenter, Pat; And Others

    Presented are two papers from a panel discussion on prenatal diagnosis and genetic counseling with families. D. Blackston (director of the Developmental Evaluation Clinic, Decatur, Georgia) points out that a concise family history, pregnancy and birth data, developmental history, careful physical examination, and appropriate laboratory studies are…

  16. Families Facing the Nuclear Taboo.

    Science.gov (United States)

    Jacobs, Judith Bula

    1988-01-01

    Discusses attitudes of 12 families participating in group which was formed to focus on issues related to the possibility of a nuclear disaster. Why and how these families are facing the nuclear taboo plus various outcomes of doing so are discussed as well as the role of the professional in encouraging such openness about these difficult issues.…

  17. South Asian Families in Diaspora

    DEFF Research Database (Denmark)

    Singla, Rashmi

    2008-01-01

      South Asian Family in Diaspora: Retreat from marriage, myth or reality?   This paper proposes to explore the dynamics of close ties in the South Asian families in the Nordic countries, especially Denmark through intimate partnership formation in the context of late modern societal discourse...

  18. Cohabitation and Children's Family Instability

    Science.gov (United States)

    Kelly Raley, R.; Wildsmith, Elizabeth

    2004-01-01

    This study estimates how much children's family instability is missed when we do not count transitions into and out of cohabitation, and examines early life course trajectories of children to see whether children who experience maternal cohabitation face more family instability than children who do not. Using data from the 1995 National Survey of…

  19. Exceptional Family TV Has Arrived!

    Science.gov (United States)

    Charlan, Nathan

    2010-01-01

    When one has a child with special needs, chances are he or she is the only one in his or her immediate circle of family and friends. It can be downright frightening to be this isolated, given the profound severity of the situation. With neither friends nor family to connect with in Colorado, the author and his wife Renee reached out to the online…

  20. Counselling Intervention for Family Security

    Science.gov (United States)

    Fareo, Dorcas Oluremi

    2015-01-01

    All couples look forward to having normal healthy babies. The issues of disabilities in their children shake the families and serve as sources of severe psychological disruption to family adjustment. The parents of such children live with many difficult issues and frequently experience trauma, grief and stress. This article deals with counselling…

  1. Power Politics of Family Psychotherapy.

    Science.gov (United States)

    Whitaker, Carl A.

    It is postulated that the standard framework for psychotherapy, a cooperative transference neurosis, does not validly carry over to the successful psychotherapy of a two-generation family group. In many disturbed families, the necessary and sufficient dynamics for change must be initiated, controlled, and augmented by a group dynamic power-play,…

  2. Issues in Training Family Scientists.

    Science.gov (United States)

    Ganong, Lawrence H.; And Others

    1995-01-01

    Issues related to graduate education in family science, especially at the doctoral level, are explored. Discusses competencies family scientists should have, as well as experiences necessary to help students acquire them. Proposes ideas for a core curriculum, identifies controversies and unresolved issues, and examines training for the future.…

  3. Family therapy, conflicts and change

    DEFF Research Database (Denmark)

    Musaeus, Peter

    2007-01-01

    Given the relative lack of sociocultural approaches to therapy, this presentation aims to contribute to a sociocultural understanding of motivation and socio-emotional problems in children and families undergoing family therapy. The study was designed as a case study using semi structured...... interviews with 15 families undergoing family therapy delivered by a communal agency in Denmark.   Using notions of crisis interlinked with institutions and everyday lives (Hedegaard) framed by historical, contentious struggles (Holland and Lave), a model of conflict, violence, learning and motivation...... will be sketched pertaining to the area of family therapy. The study argues for the importance of a holistic, non-mechanical (Valsiner) approach to motivation for change in understanding how "at risk" or "problematic" children and youth (who are for instance experiencing school absenteeism, domestic violence...

  4. On family secrets and -K.

    Science.gov (United States)

    Orgad, Yariv

    2014-08-01

    In this paper I present a novel interpretation of family secrets. Leaning on Bion's concept of -K, the constitution of secrecy is interpreted in terms of family dynamics that actively prevent knowledge formation and mental growth. Family secrets are interpreted as a destructive process that attacks the family's truth-generating-space - the shared semiotic space within which meanings are constituted through family relationships. The paper explores the microstructure interpersonal process of -K through the analysis of Mike Leigh's movie, Secrets and Lies. Two scenes in the movie are used to demonstrate how -K is worked out in the form of a specific intersubjective semiotic endeavor that unconsciously blocks the process of meaning-making. PMID:24902493

  5. Family conflict tendency and ADHD.

    Science.gov (United States)

    Niederhofer, H; Hackenberg, B; Lanzendörfer, K

    2004-04-01

    A lack of perseverance, poor attention, and poorly modulated behaviour are important criteria of Attention Deficit Hyperactive Disorder (ADHD). Instructions often have to be repeated, sometimes even by different family members before a child with ADHD attends and complies. We hypothesised that a child with ADHD might cause less disagreement in families with almost no conflicts. Responses to the Mannheim Parents Interview and teacher's form of the Conners scale completed by families of 15 boys (ages 6 to 12 years), diagnosed with ADHD were compared with those of a matched, healthy control group of 15 boys. Parents completed a form assessing the family's cooperation and child-rearing practices. Having few family conflicts, i.e., almost no Verbal Disagreement may reduce Physical Punishment and Anger and Disregard and augment the Openness to another's needs and, for that reason, have protective effects on children's behaviour modulation. PMID:15154188

  6. A Framework for Studying Family Socialization over the Life Cycle: The Case of Family Violence.

    Science.gov (United States)

    Kalmuss, Debra; Seltzer, Judith A.

    1989-01-01

    Uses lifetime perspective on family socialization as framework for understanding effects of divorce and remarriage on family violence. Identifies three family socialization experiences (family of origin, family in transition, and current family) that shape behavior. Recommends extending framework to investigate other family transitions and…

  7. A new conditional Apc-mutant mouse model for colorectal cancer

    NARCIS (Netherlands)

    E.C. Robanus-Maandag (Els); P.J. Koelink (Pim); C. Breukel (Cor); D.C.F. Salvatori (Daniela); S.C. Jagmohan-Changur (Shantie); C.A.J. Bosch (Cathy); H.W. Verspaget; P. Devilee (Peter); R. Fodde (Riccardo); M.J.M. Smits (Ron)

    2010-01-01

    textabstractMutations of the adenomatous polyposis coli (APC) gene predispose individuals to familial adenomatous polyposis (FAP), characterized by multiple tumours in the large intestine. Most mouse models heterozygous for truncating mutant Apc alleles mimic FAP, however, the intestinal tumours occ

  8. Understanding Dying Patients and Their Families

    Science.gov (United States)

    Librach, S.L.; Talbot, Yves

    1991-01-01

    Caring for dying patients and their families presents unique opportunities and challenges for the family physician. The family FIRO model provides a simple way of assessing families and providing appropriate, individualized care. This article outlines the model, discusses the care of dying patients and their families from the FIRO perspective, and provides a guideline for the family physician. A framework is suggested for teaching residents to support families. PMID:21228989

  9. Family Change and Implications for Family Solidarity and Social Cohesion

    Directory of Open Access Journals (Sweden)

    Ravanera, Zenaida

    2008-01-01

    Full Text Available EnglishSocial cohesion can be viewed in terms of common projects and networks of social relations that characterize families, communities and society. In the past decades, the basis for family cohesion has shifted from organic to mechanical or from breadwinner to collaborative model. As in many Western countries, data on family change in Canada point to a greater flexibility in the entry and exit from relationships, a delay in the timing of family events, and a diversity of family forms. After looking at changes in families and in the family setting of individuals, the paper considers both intra-family cohesion and families as basis for social cohesion. Implications are raised for adults, children and publicp olicy.FrenchLa cohésion sociale peut se voir à travers les projets communs et les réseaux desrelations sociales qui caractérisent les familles, les communautés et les sociétés.La base de cohésion familiale est passée d’organique à mécanique, pour utiliserles termes de Durkheim, ou vers un modèle de collaboration plutôt qu’unepartage asymétrique de tâches. Comme dans d’autres sociétés orientales, lafamille au Canada est devenue plus flexible par rapport aux entrées et sortiesd’unions, il y a un délais dans les événements familiaux, et une variété deformes de familles. Après un regard sur les changements dans les familles etdans la situation familiale des individus, nous considérons la cohésion intrafamilialeet la famille comme base de cohésion sociale. Nous discutons desimpacts sur les adultes, les enfants et la politique publique.

  10. [Family reunification and family formation of asylum migrants].

    Science.gov (United States)

    Den Dulk, W; Nicolaas, H

    1998-09-01

    "Estimates have been made of the number of family-reunifying and family-forming migrants of asylum migrants [in the Netherlands], using population stock data per 1 January 1997 obtained from the municipal population registers. The estimates are based on such demographic characteristics as country of birth, age, sex, marital status, year of marriage, family situation after the migration and year of most recent settlement in the Netherlands.... The calculations refer to the years 1990-1996 and are carried out for the following countries: Afghanistan, Angola, Ethiopia, Ghana, Iraq, Iran, (former) Yugoslavia, Somalia, Sri Lanka, Vietnam and Zaire." (EXCERPT) PMID:12348734

  11. South African Families Raising Children with Autism Spectrum Disorders: Relationship between Family Routines, Cognitive Appraisal and Family Quality of Life

    Science.gov (United States)

    Schlebusch, L.; Samuels, A. E.; Dada, S.

    2016-01-01

    Background: The purpose of this study was to investigate the relationship between family routines, cognitive appraisal of the impact of autism spectrum disorders (ASD) on the family and family quality of life (FQOL) in families raising children with ASD in South Africa. Methods: A sample of 180 families of young children with ASD who were…

  12. Refugee families during asylum seeking.

    Science.gov (United States)

    Sourander, Andre

    2003-01-01

    The mental health of refugee families with children during the asylum period is a neglected research area in psychiatry. The present paper describes the situation of 10 refugee families residing at an asylum centre in Finland. Case vignettes are presented to illustrate the situations of these families. The study shows a high rate of depressive and post-traumatic stress disorder-related symptoms among adult refugees. The case vignettes suggest that during the asylum period, many children and adult members of the family are not in a post-traumatic situation, but they live constantly in a distressing situation. The foremost distress amongst the asylum seekers appeared to be fear of deportation and separation from family members. Most of the adults and all children had not received any psychiatric or psychotherapeutic assessment or treatment. It is likely that current procedures for dealing with the asylum seekers contributes to the level of stress, family confusion and psychiatric problems in already traumatized refugee families. PMID:12775295

  13. Incest and the family physician.

    Science.gov (United States)

    Boekelheide, P D

    1978-01-01

    This paper is a review of incest from epidemiologic, familial, and individual points of view. The incest taboo has characterized almost every culture and society throughout the ages. Respect for the incest barrier is a cultural demand made by society and is not a physiological or biological imperative. Overt incest occurs in a dysfunctional family through tension-reducing "acting out." The family physician is in a unique position to observe and understand the family dynamics which both help maintain defenses against the incestuous wishes as well as, in some families, contribute to the practice of incest. For 2,000 years physicians have taken the Hippocratic oath, with its explicit love relationship clause, as a reminder of their ethical responsibilities towards their patients. Examples of para-incestuous relationships between vulnerable individuals and authoritative helping figures are cited. A psychodynamic rationale is offered as to why sexual relationships between patients and their family physicians are not therapeutically beneficial. Clues for assessment and ten preventive measures are presented to enable physicians to monitor themselves and the families in their practice.

  14. [Family intervention according to Roy].

    Science.gov (United States)

    de Montigny, F

    1992-09-01

    The author presents a care plan based upon Sister Callista Roy's conceptual model, that is recognized as well suited to the family system. This, the first of two-part series, focuses on the first two steps of the care plan--the theoretical and practical aspects of data collection and data analysis. The subjects are a single mother and her son. During the first level of evaluation of the family system, the nurse observes and explores the family system's behavior as well as that of each of the family members using the four modes of adaptation: physiological needs, self-concept, role function, and interdependence relations. During the second level of evaluation, the nurse identifies observed and reported stimuli or factors within the family environment that influence observed behaviors. During the data analysis, the nurse determines if the reported or observed behaviors are adaptive or non-adaptive toward maintaining the bio-psycho-social integrity of the family. The nurse also determines if the behaviors allow for achievement of identified goals. The nurse establishes links between the behaviors and the stimuli, classes and organizes the findings, and formulates an appropriate nursing care plan. Next month's article will focus on the planning, implementation and evaluation of the nursing care plan. It will focus equally on the ways in which the nurse can facilitate the family's adaptation.

  15. Familial aggregation of bladder cancer

    Directory of Open Access Journals (Sweden)

    Ilić Milena

    2011-01-01

    Full Text Available Background. Except for smoking and certain occupational exposures, the etiology of bladder cancer is largely unknown. Several case reports have described familial aggregation of transitional cell carcinoma of the bladder. Although the majority of patients with bladder cancer do not have family history of transitional cell carcinoma of the urinary tract, the study of familial transitional cell carcinoma may lead to the knowledge on the pathogenesis of this disease. The purpose of this study was to describe three cases of urinary bladder cancer in a single three-member family, i.e. in two generations (mother and son and a family member related by marriage (the patient’s wife. Case report. Three cases of urinary bladder cancer occurred in a three-member family within the interval of 5 years. The following common characteristics were detected in our patients: old age (over 60, working as farmers for more than 50 years, negative personal medical history on relevant health disorders, place of birth - village, place of residence - village, the same water supply, similar nutrition, positive family history on urinary bladder cancer or other malignant tumors, the first sign of illness was macroscopic hematuria in all the patients and the same pathohistological type of cancer - carcinoma papillare transitiocellulare. Conclusion. The stated common characteristics in our cases indicate, above all, the impact of exposure to external surrounding factors on the occurrence of urinary bladder cancer.

  16. On the Astrid asteroid family

    Science.gov (United States)

    Carruba, V.

    2016-09-01

    Among asteroid families, the Astrid family is peculiar because of its unusual inclination distribution. Objects at a ≃ 2.764 au are quite dispersed in this orbital element, giving the family a `crab-like' appearance. Recent works showed that this feature is caused by the interaction of the family with the s - sC nodal secular resonance with Ceres, that spreads the inclination of asteroids near its separatrix. As a consequence, the currently observed distribution of the vW component of terminal ejection velocities obtained from inverting Gauss equation is quite leptokurtic, since this parameter mostly depends on the asteroids inclination. The peculiar orbital configuration of the Astrid family can be used to set constraints on key parameters describing the strength of the Yarkovsky force, such as the bulk and surface density and the thermal conductivity of surface material. By simulating various fictitious families with different values of these parameters, and by demanding that the current value of the kurtosis of the distribution in vW be reached over the estimated lifetime of the family, we obtained that the thermal conductivity of Astrid family members should be ≃0.001 W m-1 K-1, and that the surface and bulk density should be higher than 1000 kg m-3. Monte Carlo methods simulating Yarkovsky and stochastic Yarkovsky-O'Keefe-Radzievskii-Paddack (YORP) evolution of the Astrid family show its age to be T = 140 ± 30 Myr old, in good agreement with estimates from other groups. Its terminal ejection velocity parameter is in the range V_{EJ}= 5^{+17}_{-5} m s-1. Values of VEJ larger than 25 m s-1 are excluded from constraints from the current inclination distribution.

  17. Same sex families and children

    Directory of Open Access Journals (Sweden)

    Mršević Zorica

    2009-01-01

    Full Text Available Introduction comprises the information on two main forms of same sex families, civic partnership (same sex partnership and same sex marriage. Countries and various status modalities of legal regulations are mentioned. The main part of the text is dedicated to presentation of the findings of the most recent research on various aspects regarding children of same sex partnerships. It comprises presentations grouped in four main chapters: acceptance of same sex partnerships, acceptance of legal recognition of the same sex partnerships, family plans of homosexual teenagers, and raising children within and by the same sex partners. Also the real life cases mirroring legal changes through their life destinies are presented, such is e.g. the Irish way to legalization of the same sex partnerships. In addition, a love story of two women crowned by giving birth of their four children is mentioned. Reasons against and negative reactions the author puts under the title Homophobia. In the Concluding remarks, the author presents the most recent examples of legal changes happened in Norway, Ecuador, and in the American states of California and Connecticut. It was also stated that in European countries of low birth rate, the same sex families are inevitably identified as one of demographically valuable source of creating and raising children, which is worthy to be supported, rather than being hindered without reason and discriminated. Although different than a model of heterosexual family, same sex partnerships neither are harrowing to traditional family values, nor reflex of any kind of promiscuous, antisocial behavior, avoidance of parenthood, and negation of family. Quite opposite, these families are an outcome of endeavors of homosexuals not to be deprived of family, parenthood and all of other values of stabile, monogamous, emotional/sexual socially accepted and legally recognized and regulated conventional family. .

  18. Skills for Working with All Families.

    Science.gov (United States)

    Kaufman, Heidi Osgood

    2001-01-01

    Uses stories of families in one early childhood program to illustrate educators' challenges to communicate with families whose backgrounds are different from theirs, including low income families. Identifies strategies for supporting and involving families, including using empathy and patience to forge relationships, linking families with needed…

  19. Working to End Family Homelessness. Annual Report

    Science.gov (United States)

    National Center on Family Homelessness (NJ1), 2012

    2012-01-01

    The National Center on Family Homelessness is determined to end family homelessness. Sheltering families provides a temporary safe haven. Connecting families to permanent housing, essential services, and critical supports can change their lives forever. Through research the Center learns what families need to rebound from the housing, economic,…

  20. Family Writing: Voices in Print, Voices Heard

    Science.gov (United States)

    Weih, Timothy G.; Shaffer, Jennifer

    2013-01-01

    What can family members learn about each other from writing together? What sense of community can develop between family members and across families as they write together? What areas of culture and community can be realized as families write together? These are the questions that fostered this current inquiry into a family writing project. Four…

  1. Social valuation of scenic beauty in Catalonian beech forests; Valoracion social de las propiedades esteticas de los hayedos en Cataluna

    Energy Technology Data Exchange (ETDEWEB)

    Vega-Garcia, C.; Burriel, M.; Alcazar, J.

    2011-07-01

    Methods tested in other countries are applied for scenic beauty valuation in several beech locations in Catalonia including significant differences in site, origin, age and stand structure. The study intends to measure stand scenic beauty as seen from inside the forest, as forest visitors see it (near-view). Assessments are obtained through panels of observers in slide sessions, which are transformed into scaled ratings and related through regression analysis to plot-based forest inventory data. The development of statistical models that describe social visual preferences allows the assessment of the contribution of different forestry-related physical variables to the aesthetic improvement of beech forests. It can also be useful as a guide to beech forest planning where recreational use is prevailing or very important. (Author) 37 refs.

  2. Taxes for waste management: Catalonian (Spain); Impuestos para la gestion de residuos : el canon sobre residuos de Cataluna

    Energy Technology Data Exchange (ETDEWEB)

    Mendiola, L.

    2002-07-01

    The use of environmental taxes in the waste management is more and more frequent. Nevertheless, many initiative do not arrive at good term due to the difficulties that the process of definition and approval of this type of measures involves. Generally, literature on the subject does not collect valuable information about the insolvent experiences. This work illustrates one of these cases: the project of the Canon Law on waste of Catalonia, presented to the Catalan Parliament in 1997. It is a tribute that imposed the disposition of the remains of certain waste, with the purpose of favoring minimization and valuation. Next the antecedents and the characteristics of this tax, as well as the obstacles that prevented. (Author) 27 refs.

  3. Historical Background to Nahmanides’ Acre Sermon for Rosh ha-Shanah: The Strengthening of the Catalonian Center

    Directory of Open Access Journals (Sweden)

    Yahalom, Shalem

    2008-12-01

    Full Text Available This study identifies literary testimony of the conflict over the nature of the Rosh ha-Shanah prayer in Nahmanides’ Sermon. Acre was in the 13th century home to rival Talmudic academies. In his Sermon for Rosh ha-Shanah, Ramban confronts the founding figures of the Tosafist community in the city. His ongoing controversy with contemporary sages can be read between the lines. Aside from brief segments, the majority of its Halakhic section is specifically aimed at opposing the Tosafists’ rulings, and the way in which material was chosen also highlights its polemical aim. In Ramban’s Novellae, he does not hesitate to argue with Tosafist and Andalusian-Geonic Halakhic rulings. Yet in the Sermon, he prefers citing reservations he had about the former. In the 13th century the intellectual momentum of the Tosafists came to a halt, simultaneous to the flourishing of Ramban’s study hall, and many Talmudic innovations were collected in the Novellae written by Ramban and his disciples. This transition forms an intellectual turning point in Talmud study. The confrontation among the academies in Acre may be viewed as a microcosm of this process.Este estudio analiza el conflicto en torno al carácter de la oración de Roš ha-Šaná en el Sermón de Na?mánides (Rambán. Acre albergaba en el siglo XIII academias talmúdicas rivales, y en su Sermón de Roš ha-Šaná, Rambán confronta a las figuras fundacionales de la congregación tosafista de esa ciudad. Su controversia con sabios coetáneos puede leerse entre líneas y, a excepción de alguna otra referencia a otros asuntos, la mayor parte de su exposición halájica, junto a la manera en la que el material expuesto ha sido elegido, se dedica a combatir las decisiones de aquéllos. En sus Novellae, Rambán no había dudado en discutir tanto las decisiones halájicas tosafistas como las gueónico-andalusíes, pero en el sermón prefiere subrayar sus reservas acerca de aquéllas. De manera simultánea, el impulso de los tosafistas llegaba a su fin, pero las enseñanzas de Rambán florecían, y muchas innovaciones talmúdicas quedaron recogidas en Novellae de Rambán y de sus discípulos. Este trasvase constituye un punto de inflexión en el estudio del Talmud y, por ello, el enfrentamiento entre las academias de Acre puede verse como un microcosmos de ese proceso.

  4. Managing the family business transition

    OpenAIRE

    Colombo Gianluca

    2003-01-01

    In this article we focus on the transition from the traditional family business to a more complex situation that occurs when the ownership becomes fragmented due to the generational drift. We illustrate the critical issues, the decisions and the main tools that may be used to manage this transition. We consider that a firm is a family business when one or few families, with strong alliance relationships, own a percentage of shares sufficient to control the voting rights in a firm or a group o...

  5. Family therapy and clinical psychology

    OpenAIRE

    Carr, Alan

    1995-01-01

    The results of a survey of 111 clinical psychologists in the Republic of Ireland along with some comparable data from US and UK surveys were used to address a series of questions about the link between family therapy and clinical psychology. Family therapy was not a clearly identifiable sub-specialty within clinical psychology in Ireland. Family therapy theoretical models were used by more than a quarter of the Irish sample to conceptualize their work but by less than a tenth of US and UK res...

  6. Family skills for overcoming adversity

    Directory of Open Access Journals (Sweden)

    Mónica Patricia Ardila Hernández

    2013-12-01

    Full Text Available This section draws on research four families in displacement in Tunja Boyacá step of this research is to present the problem of displacement from another different look that has embargoed regarding this topic. Critical reflection was raised from resilient approach Parsons theory in order to understand families immersed in this conflict as change agents capable of adapting to a new system and overcome adversity. Within this scheme is used to obtain qualitative research of the following categories : adaptation to the new social context risk factors present in families and protective factors.

  7. Family Process 1962-1969.

    Science.gov (United States)

    Beels, Christian

    2011-03-01

    This is a personal recollection of the first 8 years of Family Process, the volumes published under the first Editor, Jay Haley, and strongly influenced by the Mental Research Institute at Palo Alto, of which Haley was a member. The later influence of the group's "double bind" hypothesis of schizophrenia is explored. Some ideas about the influence of theory on practice are suggested. Several examples of experiments in the social setting of family work are picked out of these volumes because of their influence on later programs. Finally, the essay offers a retrospective appreciation of the influence of Gregory Bateson on the mood of "revolution" forecast in the opening years of Family Process.

  8. One Family's Struggles with Rotavirus

    Medline Plus

    Full Text Available ... One family's struggles with rotavirus We provide this video in a variety of formats and lengths for use by your organization free-of-charge. Branded videos contain the "PKIDs.ORG" end slate; unbranded videos ...

  9. One Family's Struggle with Chickenpox

    Medline Plus

    Full Text Available ... One family's struggles with chickenpox We provide this video in a variety of formats and lengths for use by your organization free-of-charge. Branded videos contain the "PKIDs.ORG" end slate; unbranded videos ...

  10. One Family's Struggles with Shingles

    Medline Plus

    Full Text Available ... One family's struggles with shingles We provide this video in a variety of formats and lengths for use by your organization free-of-charge. Branded videos contain the "PKIDs.ORG" end slate; unbranded videos ...

  11. One Family's Struggle with Chickenpox

    Medline Plus

    Full Text Available Immunizations Chickenpox (Varicella) One family's struggles with chickenpox We provide this video in a variety of formats and lengths for use by your organization free-of-charge. Branded videos contain the " ...

  12. In the family with ubiquitin

    OpenAIRE

    Alexandru, Gabriela; Pariente, Nonia; Xirodimas, Dimitris

    2011-01-01

    The Cold Spring Harbor meeting on ‘The Ubiquitin family', held in May 2011, brought together scientists from a wide range of fields, all under the common umbrella of ubiquitin and ubiquitin-like protein structure, function and regulation.

  13. A Family Finds Its Way

    Science.gov (United States)

    ... Cover Story: Traumatic Brain Injury A Family Finds Its Way Past Issues / Fall 2008 Table of Contents ... spoke recently with NIH MedlinePlus ' Christopher Klose. At its heart, TBI, hearing loss, any health condition is ...

  14. Temporary Assistance for Needy Families

    Data.gov (United States)

    U.S. Department of Health & Human Services — This is the FY2009 Work Participation Rate data for the Temporary Assistance for Needy Families (TANF) Program. It provides state-by-state data on Work...

  15. Energize Yourself and Your Family

    Science.gov (United States)

    ... as time-outs just for yourself. Enjoy friendly competition with family and friends by setting a weight- ... calcium needs. How can I create a healthier eating plan? A healthy meal may include vegetables and ...

  16. One Family's Struggles with Rotavirus

    Medline Plus

    Full Text Available Immunizations Rotavirus One family's struggles with rotavirus We provide this video in a variety of formats and lengths for use by your organization free-of-charge. Branded videos contain the "PKIDs. ...

  17. One Family's Struggles with Shingles

    Medline Plus

    Full Text Available Immunizations Shingles One family's struggles with shingles We provide this video in a variety of formats and lengths for use by your organization free-of-charge. Branded videos contain the "PKIDs. ...

  18. Kaiser Family Foundation - Content Search

    Data.gov (United States)

    U.S. Department of Health & Human Services — Chartpacks, chartbooks, factsheets, reports, and slide presentations bring Kaiser Family Foundation information to life, and can be easily incorporated into your...

  19. Food Safety for Your Family

    Science.gov (United States)

    ... Story" 5 Things to Know About Zika & Pregnancy Food Safety for Your Family KidsHealth > For Parents > Food ... foods you prepare in it are safe. Buying Food Buying safe food is the first step. To ...

  20. Social Support, Family Organizations, and Adolescent Adjustment in Low-Income Puerto Rican Families.

    Science.gov (United States)

    Taylor, Ronald D.; Seaton, Elenor; Jacobson, Leanne; Rodriguez, Antoinette U.; Dominguez, Antonio

    Social support from kin has been discussed as an important feature of family life among Puerto Rican families. This study examines the association between kinship support, family organization, and adolescent adjustment in Puerto Rican families. (Author)

  1. The semiosis of family conflict

    DEFF Research Database (Denmark)

    Musaeus, Peter; Brinkmann, Svend

    2011-01-01

    Foucault’s genealogical approach and Rose’s notion of Psydiscourse. It is argued that this approach is fruitful for understanding psychotherapy as a governing discourse that influences contemporary families. Technologies of the self, such as psychotherapy and signs like ‘time-out’ and ‘stop,’ are used...... life, we start understanding the barriers to well-being in families and individual lives....

  2. Brief Psychotherapy in Family Practice

    OpenAIRE

    MacDonald, Peter J.; Brown, Alan

    1986-01-01

    A large number of patients with psychosocial or psychiatric disorders present to family physicians, and the family physician needs a model of psychotherapy with which to cope with their problems. A model of brief psychotherapy is presented which is time limited, goal directed and easy to learn. It consists of four facets drawn from established areas of psychotherapy: characteristics of the therapist; characteristics of the patient; Eriksonian developmental stages; and the process of therapy a...

  3. Family Medicine: A Resident's Perspective

    OpenAIRE

    Kumar, Bipin

    2012-01-01

    Though family medicine has existed as a qualification for more than a decade in India, structured residency based training is a recent phenomenon. A growing number of young physicians are opting for this challenging and exciting new speciality as post graduate qualification through NBE (National Board of Examination) affiliated three year DNB (Diplomate of National Board) training program. MD family medicine is also in offing as Medical Council of India (MCI) has recently notified curriculum ...

  4. Family Business, Employment, and GDP

    OpenAIRE

    Johansson, Dan; Sjögren, Hans; Bjuggren, Carl Magnus

    2009-01-01

    We analyze the proportion of family business and its contribution to employment and gross domestic product (GDP). Our analysis adds to the literature by including all listed firms and by investigating a longer period than has heretofore been reported. The main contribution is to extend the analysis to include all firms in the economy using census data. Our study is devoted to the case of Sweden. Family business makes up half of the listed firms, and three quarters of all firms, accounting for...

  5. Natural Family Planning: An Update

    OpenAIRE

    Derzko, Christine M.

    1986-01-01

    Natural Family Planning (NFP) is defined by the World Health Organization (WHO) as “methods for planning or avoiding pregnancies by observation of the natural signs and symptoms of the fertile and infertile phase of the menstrual cycle. It is implicit in the definition of natural family planning, when used to avoid conception that drugs, devices and surgical procedures are not used, there is abstinence from sexual intercourse during the fertile phase of the menstrual cycle, and the act of int...

  6. Osteosarcoma complicating familial Paget's disease.

    OpenAIRE

    Brenton, D P; Isenberg, D. A.; Bertram, J.

    1980-01-01

    A most unusual family with aggressive Paget's disease is reported. Three brothers out of 10 siblings developed the disease at a relatively early age. Two of these brothers developed an osteosarcoma and died. It is emphasized that very little information is available concerning the predisposition to severe polyostotic disease and even sarcomatous change when Paget's disease begins at a young age or is familial. Possibly the risk of these serious complications is then greater than when the dise...

  7. Policy implications for familial searching

    OpenAIRE

    Kim Joyce; Mammo Danny; Siegel Marni B; Katsanis Sara H

    2011-01-01

    Abstract In the United States, several states have made policy decisions regarding whether and how to use familial searching of the Combined DNA Index System (CODIS) database in criminal investigations. Familial searching pushes DNA typing beyond merely identifying individuals to detecting genetic relatedness, an application previously reserved for missing persons identifications and custody battles. The intentional search of CODIS for partial matches to an item of evidence offers law enforce...

  8. Acne neonatorum and familial hyperandrogenism.

    Science.gov (United States)

    Bekaert, C; Song, M; Delvigne, A

    1998-01-01

    We report a case of acne neonatorum developed in a boy since birth. His mother and his aunt had different signs of hyperandrogenism including acne and hirsutism. This case illustrates the correlation between acne neonatorum and familial hyperandrogenism. It shows the importance of the family history and the eventual clinical and serological presence of hyperandrogenism in the mother when confronted with acne neonatorum. PMID:9669129

  9. IS4 family goes genomic

    Directory of Open Access Journals (Sweden)

    Mahillon Jacques

    2008-01-01

    Full Text Available Abstract Background Insertion sequences (ISs are small, mobile DNA entities able to expand in prokaryotic genomes and trigger important rearrangements. To understand their role in evolution, accurate IS taxonomy is essential. The IS4 family is composed of ~70 elements and, like some other families, displays extremely elevated levels of internal divergence impeding its classification. The increasing availability of complete genome sequences provides a valuable source for the discovery of additional IS4 elements. In this study, this genomic database was used to update the structural and functional definition of the IS4 family. Results A total of 227 IS4-related sequences were collected among more than 500 sequenced bacterial and archaeal genomes, representing more than a three fold increase of the initial inventory. A clear division into seven coherent subgroups was discovered as well as three emerging families, which displayed distinct structural and functional properties. The IS4 family was sporadically present in 17 % of analyzed genomes, with most of them displaying single or a small number of IS4 elements. Significant expansions were detected only in some pathogens as well as among certain extremophiles, suggesting the probable involvement of some elements in bacterial and archaeal adaptation and/or evolution. Finally, it should be noted that some IS4 subgroups and two emerging families occurred preferentially in specific phyla or exclusively inside a specific genus. Conclusion The present taxonomic update of IS4 and emerging families will facilitate the classification of future elements as they arise from ongoing genome sequencing. Their narrow genomic impact and the existence of both IS-poor and IS-rich thriving prokaryotes suggested that these families, and probably ISs in general, are occasionally used as a tool for genome flexibility and evolution, rather than just representing self sustaining DNA entities.

  10. Preventing Violence through Empathy Development in Families

    Science.gov (United States)

    Swick, Kevin

    2005-01-01

    Families can help prevent violence through nurturing empathy in their children. This article provides the framework for supporting families in becoming active in their children's development of empathy. Strategies are provided that help parents and family implement empathy development.

  11. Genetics Home Reference: familial hemiplegic migraine

    Science.gov (United States)

    ... Home Health Conditions familial hemiplegic migraine familial hemiplegic migraine Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Familial hemiplegic migraine is a form of migraine headache that runs ...

  12. In the NICU: Your Family and Friends

    Science.gov (United States)

    ... NICU) > Your family and friends Your family and friends E-mail to a friend Please fill in all fields. Please enter a ... After your baby's arrival, some family members and friends will rally to support you. They will know ...

  13. Genetics Home Reference: familial restrictive cardiomyopathy

    Science.gov (United States)

    ... Home Health Conditions familial restrictive cardiomyopathy familial restrictive cardiomyopathy Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Familial restrictive cardiomyopathy is a genetic form of heart disease. For ...

  14. Family environment and child development

    Directory of Open Access Journals (Sweden)

    Tina Kavčič

    2005-04-01

    Full Text Available The paper presents an overview of research findings on influence of family environment, especially parental behaviour, on child's development. Contemporary authors question early socialization researchers' claims that family characteristics and parental behaviour have important influence on behaviour of their children. Later researchers examined the size and durability of possible effects of family environment on child development. In addition, they focused on establishing whether it is actually the parental behaviour that influences child's development or, on the contrary, parental behaviour represents mainly a reaction to child's characteristics. Behaviour genetic studies have provided evidence that many traditional measures of family environment, including measures of parental behaviour, show genetic influence, thus reflecting genetically influenced child characteristics. Behaviour geneticists also suggest that environmental influences on child (personality development include predominantly non-shared environment, i.e. individual child's specific experiences, his/her own perceptions and interpretations of objectively same events. Based on empirically determined significant genetic effects on most behavioural traits and inconclusive results of studies on effects of family environment on child development some authors believe that it is not the parents, but rather genetic factor and/or peers who have the key role in child development. With respect to findings of behaviour genetics numerous recent studies of relations between family environment and child development involve child specific measures of (extrafamilial environment and examine the interactions between characteristics of an individual and those of his/her environment.

  15. Family gym: a model to promote physical activity for families with young children.

    Science.gov (United States)

    Castaneda-Sceppa, Carmen; Hoffman, Jessica A; Thomas, Jordan; DuBois, Matthew; Agrawal, Tara; Griffin, Daphne; Bhaumik, Urmi; Healey, Christine Locke; Dickerson, Deborah; Nethersole, Shari; Wirth, Catherine

    2014-08-01

    This report describes Family Gym, a family-centered model that (1) provides free access to physical activity for low-income families in the inner city; (2) targets young children (3-8 years) and their families; (3) engages families together in physical activity; and (4) stimulates social interaction among families.

  16. A Perfect Fit: Connecting Family Therapy Skills to Family Business Needs

    Science.gov (United States)

    Cole, Patricia M.; Johnson, Kit

    2012-01-01

    The purpose of this article is to encourage family therapists to become more interested in family business practice. It does so in three ways: (a) highlighting the number of therapists already involved in family business issues; (b) showing the parallels between family business and family therapy by applying family business research findings to…

  17. A Pedigree Analysis of a Family With Familial Hypercholesterolemia

    Institute of Scientific and Technical Information of China (English)

    Li Jianjun; Wang Yaolin; Hu Chenglin; Chen Jiangbin; Wang Jingming; Xu Jlaoli

    2000-01-01

    Objective The current study was designed to investigate the features of a family with familial hypercholesterolemia(FH). Methods Twenty members of three generations in a family with FH were enrolled in the study. The data collected were from clinical observation and subjected to pedigree analysis.Results The proband was a 41 years old male who suffered from angina pectoris with multi-vessel stenosis of coronary artery at the age of 40. Among 20 members,8 individuals were demonstrated with hypercholesterolemia in this family with the total incidence of 40%[54.5% (6/11) in male and 22.2% (2/9) in female ]The serum total cholesterol level was elevated in childhood from 7.1 to 10. 8 mmol/L and tended to be raised with increasing age. In addition, the level of total cholesterol was found to be elevated both in a monozygote twin brothers and their offspring in the family.Conclusion FH appears to be a hereditary disease of autosomal dominance inheritance and the outcome of FH patients with coronary heart disease seems to be poor in prognosis.

  18. Understanding the transgenerational orientation of family businesses: the role of family governance and business family identity

    OpenAIRE

    Suess-Reyes, Julia

    2016-01-01

    The development of a transgenerational orientation is one of the most significant challenges that family businesses face and only a small number actually survive across generations. While prior research has focused on the business unit to provide us with a solid understanding of how corporate governance affects business performance and continuity, the role of the business family in the development of a transgenerational orientation has received less attention. To address this g...

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

    DEFF Research Database (Denmark)

    Rohlin, A; Engwall, Y; Fritzell, K;

    2011-01-01

    in a panel of 20 various normal tissues examined. In FAP-related tumors, the APC germline mutation is proposed to dictate the second hit. Mutations leaving two or three out of seven 20-amino-acid repeats in the central domain of APC intact seem to be required for tumorigenesis. We examined adenomas from...

  20. Family therapy and fundamentalism: One family therapist's exploration of ethics and collaboration with religious fundamentalist families.

    Science.gov (United States)

    Sherbersky, Hannah

    2016-07-01

    What are the therapeutic limitations of systemic psychotherapy when working with families who hold religious fundamentalist beliefs? At a time of debate about religious fundamentalism, terrorism and radicalisation, where do family therapists position themselves when confronted by extreme beliefs in the therapy room? Research suggests that the increase in modernity within our society equates not just with an increase in secularisation, but rather an increase in pluralism. Contemporary models of family therapy pay explicit attention to issues of gender, culture, ethnicity, discrimination and societal contexts. The author, therefore, proposes that family therapists need to examine their position regarding religious fundamentalism in relation to the social constructionist relativist continuum and engage with uncomfortable questions about whether they believe that fundamentalism has essentially pathological roots. This article will explore whether the dualist position within some religious movements set against a more secular psychotherapeutic and psychiatric cultural milieu can invite a fundamentalised response from clinicians. The author draws on her own work with families who hold religious fundamentalist beliefs and enquires about ethics, transparency and collaboration within family therapy practice. This article invites complex ongoing challenging questions and debate. PMID:26712896

  1. Family planning costs and benefits.

    Science.gov (United States)

    1989-01-01

    Government sponsored family planning programs have had major success in declining birth rates in Barbados, China, Cuba, Hong Kong, Indonesia, Korea, Mexico, Singapore, Sri Lanka, Taiwan, and Thailand. Non- government programs have had similar success in Brazil and Colombia. These programs have been estimated as preventing over 100 million births in China and 80 million in India. Research indicates that family planning programs can produce a 30-50% drop in fertility. Family planning information and some contraceptives can be best distributed through community organizations. Research also indicates male opposition has been a major factor in wider acceptance of family planning. Surveys indicate that 50% of the woman who want no additional children are not using any birth control. Many governments do not have the resource and money to implement programs. In the developing countries if those who were able to prevent the unwanted births had birth control, the population increases in those countries would have been 1.3% versus 2.2%. In earlier family planning programs foreign assistance paid over 80% of the cost, and national governments 20%; today this is reversed. The World Bank estimates that for major improvements in population growth and women's health, $7 billion will be needed yearly by the year 2000. The countries that have had the similar goals in development of human resources, social services, health, and education. They have attended to the status of women, female employment, and maternal and child health. Estimates are that 1.3 billion couples and individuals will need family planning services by the year 2000, and this will be a formidable task. This key elements of successful family planning programs are community participation, decentralization, and training.

  2. Familial varieties of primary aldosteronism.

    Science.gov (United States)

    Stowasser, M; Gunasekera, T G; Gordon, R D

    2001-12-01

    1. Improved approaches to screening and diagnosis have revealed primary aldosteronism (PAL) to be much more common than previously thought, with most patients normokalaemic. The spectrum of this disorder has been further broadened by the study of familial varieties. 2. Familial hyperaldosteronism type I (FH-I) is a glucocorticoid-remediable form of PAL caused by the inheritance of an adrenocorticotrophic hormone (ACTH)- regulated, hybrid CYP11B1/CYP11B2 gene. Diagnosis has been greatly facilitated by the advent of genetic testing. The severity of hypertension varies widely in FH-I, even among members of the same family, and has demonstrated relationships with gender, degree of biochemical disturbance and hybrid gene crossover point position. Hormone "day curve" studies show that the hybrid gene dominates over wild-type CYP11B2 in terms of aldosterone regulation. This may be due, in part, to a defect in wild-type CYP11B2-induced aldosterone production. Control of hypertension in FH-I requires only partial suppression of ACTH and much smaller glucocorticoid doses than previously recommended. 3. Familial hyperaldosteronism type II (FH-II) is not glucocorticoid remediable and is not associated with the hybrid gene mutation. Familial hyperaldosteronism type II is clinically, biochemically and morphologically indistinguishable from apparently non-familial PAL. Linkage studies in one informative family did not show segregation of FH-II with the CYP11B2, AT1 or MEN1 genes, but a genome-wide search has revealed linkage with a locus in chromosome 7. As has already occurred in FH-I, elucidation of causative mutations is likely to facilitate earlier detection of PAL. PMID:11903322

  3. Where are family theories in family-based obesity treatment?: conceptualizing the study of families in pediatric weight management.

    Science.gov (United States)

    Skelton, J A; Buehler, C; Irby, M B; Grzywacz, J G

    2012-07-01

    Family-based approaches to pediatric obesity treatment are considered the 'gold-standard,' and are recommended for facilitating behavior change to improve child weight status and health. If family-based approaches are to be truly rooted in the family, clinicians and researchers must consider family process and function in designing effective interventions. To bring a better understanding of family complexities to family-based treatment, two relevant reviews were conducted and are presented: (1) a review of prominent and established theories of the family that may provide a more comprehensive and in-depth approach for addressing pediatric obesity; and (2) a systematic review of the literature to identify the use of prominent family theories in pediatric obesity research, which found little use of theories in intervention studies. Overlapping concepts across theories include: families are a system, with interdependence of units; the idea that families are goal-directed and seek balance; and the physical and social environment imposes demands on families. Family-focused theories provide valuable insight into the complexities of families. Increased use of these theories in both research and practice may identify key leverage points in family process and function to prevent the development of or more effectively treat obesity. The field of family studies provides an innovative approach to the difficult problem of pediatric obesity, building on the long-established approach of family-based treatment.

  4. Parental Stress, Family-Professional Partnerships, and Family Quality of Life: Families of Children with Autism Spectrum Disorder

    Science.gov (United States)

    Hsiao, Yun-Ju

    2013-01-01

    The purpose of this study was to investigate the relationship among the quality of life of families that have at least one child with autism spectrum disorder, parental stress level, and partnerships between the family and professionals. Also, parent perceptions of parental stress, family quality of life, and family-professional partnerships were…

  5. Family science: What is it?

    Energy Technology Data Exchange (ETDEWEB)

    Whitlow, B.

    1994-12-31

    Family science is an informal science education program designed to teach science skills by having children and parents learn and enjoy science together. Aimed at addressing the underrepresentation of women and ethnic and racial minorities in science-based careers, FAMILY SCIENCE involves parents and children in kindergarten through eighth grade in science activities that demonstrate the role science plays in their daily life and future. Family involvement is the key to the program`s effectiveness. Family classes are usually offered in a series of one- to two-hour class meetings for parents and their children after school, evenings, and weekends. During classes, parents and children work in pairs and small groups to solve problems, work cooperatively, and talk science. The activities provide experiences for the entire family that build skills, confidence, and interest in science. In addition, guest speakers and career activities illustrate for parents in the workforce the significance of math and science in their own jobs, and for kids, it highlights the diversity of jobs and the relevance of math and science.

  6. Intergenerational relations in romany families

    Directory of Open Access Journals (Sweden)

    Hepnarova G. Caltova

    2014-01-01

    Full Text Available This paper presents partial results of the research focusing on education and protection of children in Roma families. The Roma family is regarded as a specifically closed border system. The type of family life organization is presentedin front of view of dominant values. The focus is on heavily represented values, especially esteem, solidarity end equality. Those values affect behaviour of family members and organize relations between the children and parents. The main aim of this paper is to present particularity of Roma community and specifics of relationships. The paper deals with fractional results of qualitative research project, the research survey was carried out in the year 2012, it was done as a field survey. The information, obtained on the nature of educational processes and directions of education, allowed us to crystallize key values passed in Roma families. In this paper, we focus mainly on the value of interpersonal relationships and maintaining compliance which are strongly represented in the educational efforts of Roma parents. The starting point of our considerations became the concept of values of G. Hofstede, who in his concept of value orientation reflects the cultural specifics. Above all, we focus on the values associated with collective cultures, which Roma belong to.

  7. Education and the Filipino family.

    Science.gov (United States)

    Guerrero, J S

    1990-01-01

    In discussing the idea that safeguarding the future of the Philippines will require strengthening the family unit, the author provides a model for accomplishing that goal, one that underscores the importance of education. The author, former director of the Bureau of Elementary Education, explains that economic, social, political, and cultural factors threaten global and Philippine development. In order to safeguard the future of the family, all aspects of development must be addressed: education, health, nutrition, social welfare, religion, etc. The 1986 Philippine Constitution already recognizes the family as the foundation of the nation, and makes provisions women's rights, and child and elderly care. But the country is plagued by many problems. While economic growth has taken place in the country, wealth has not been equitable distributed. Poverty continues to be widespread. Also, demographic figures indicate that the Philippine population is very young, with a dependency ratio of 78 dependents/100 persons. As far as education is concerned, efficiency and quality are low and the dropout rate is high. In order to protect the family unit, the author calls for the introduction of new education policies, including: the provision of early childhood education; the introduction of health, nutrition, and family planning into the education curriculum; the strengthening of parent education programs; the reinforcement of literacy programs; and the identification of the institutions needed to implement such policies. The author explains that the article only provides an agenda for safeguarding the future, and that carrying out the mission will require broad-based support. PMID:12343163

  8. Radiological evaluation of familial osteopetrosis

    International Nuclear Information System (INIS)

    Authors found 16 patients with benign osteopetrosis out of 62 members of 4 families and analysed these patients clinically, radiologically, hematologically and biochemically at the Department of Radiology, Jeonbug National University Hospital from October 1977 to June 1980. The results are as follows; 1. We obtained that there is evidence of familial tendency in developing osteopetrosis because of the fact that 15 patients (94%) developed in 3 families and more than 2 patients in each family. In genetical point of view we suspected dominant trait of inheritance and could rule out recessive trait because patients were found in successive generations except for one family. There were no consangulneous marriages among the parents of these patients. 2. The majority of patients were adolescent or adult above 10 years of age when the disease was diagnosed. The incidence was identical in both sex. 3. No clinical symptoms and historical abnormalities were found in 11 patients (69%) and 5 patients (31%) showed only mild symptoms. Among 5 patients with clinical symptoms 3 patients showed pathologic fractures. In all 3 patients, fractures occurred only by mild trauma and affected sites were tubular bones and they were transverse type. 4. There were no specific relationship between ABO types and Rh reactions in developing osteopetrosis and no specific findings in hematological, biochemical and routine urinalysis. 5. The only diagnostic finding in most patients were the typical and specific radiological findings

  9. Motivation within a Family Business : Why are non-family managers motivated to work within a family business?

    OpenAIRE

    Carlsson, Christian; Duraku, Besmir

    2012-01-01

    Abstract Problem: Family business is the most common type of enterprise in the world and an elaborative subject to perform research in. However, the linkage between motivation and family business is not common to study, especially form the non-family managers’ perspective. Therefore, this thesis aims to fulfill the missing gap in research concerning motivational factors for non-family managers within a family business. Motivational factors are crucial for individuals in order to perform, alt...

  10. Familier og ADHD-problematikker

    DEFF Research Database (Denmark)

    Andersen, Maja Lundemark

    Denne rapport henvender sig til alle – borgere, professionelle i det sociale og sundhedsfaglige arbejde, forskere og politikere – som interesserer sig for forståelsen og betydningen af ADHD-problematikker i familiers daglige liv. Rapporten har særligt fokus på brugernes egne perspektiver på ADHD......-problematikker, og der er lagt vægt på en ressourceorienteret tilgang. Rapporten viser, på baggrund af observationer og interview med familier, hvor ADHD-problematikker er en del af de daglige udfordringer, at ADHD opleves meget differentieret af de forskellige individer, hvilket tyder på, at det kan være en idé, at...... familiernes oplevelser af samarbejde med de professionelle inden for det sociale og pædagogiske arbejde en diskussion af muligheder for at øge kvaliteten i mødet mellem velfærdssystemer og familier med ADHD-problematikker....

  11. Familial colorectal cancer type X

    DEFF Research Database (Denmark)

    Dominguez-Valentin, Mev; Therkildsen, Christina; Da Silva, Sabrina;

    2015-01-01

    Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologi...... features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized tumor prevention.......Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologic...

  12. Polynomial Learning of Distribution Families

    CERN Document Server

    Belkin, Mikhail

    2010-01-01

    The question of polynomial learnability of probability distributions, particularly Gaussian mixture distributions, has recently received significant attention in theoretical computer science and machine learning. However, despite major progress, the general question of polynomial learnability of Gaussian mixture distributions still remained open. The current work resolves the question of polynomial learnability for Gaussian mixtures in high dimension with an arbitrary fixed number of components. The result on learning Gaussian mixtures relies on an analysis of distributions belonging to what we call "polynomial families" in low dimension. These families are characterized by their moments being polynomial in parameters and include almost all common probability distributions as well as their mixtures and products. Using tools from real algebraic geometry, we show that parameters of any distribution belonging to such a family can be learned in polynomial time and using a polynomial number of sample points. The r...

  13. Caspase Family Proteases and Apoptosis

    Institute of Scientific and Technical Information of China (English)

    Ting-Jun FAN; Li-Hui HAN; Ri-Shan CONG; Jin LIANG

    2005-01-01

    Apoptosis, or programmed cell death, is an essential physiological process that plays a critical role in development and tissue homeostasis. The progress of apoptosis is regulated in an orderly way by a series of signal cascades under certain circumstances. The caspase-cascade system plays vital roles in the induction, transduction and amplification of intracellular apoptotic signals. Caspases, closely associated with apoptosis, are aspartate-specific cysteine proteases and members of the interleukin-1β-converting enzyme family. The activation and function of caspases, involved in the delicate caspase-cascade system, are regulated by various kinds of molecules, such as the inhibitor of apoptosis protein, Bcl-2 family proteins, calpain,and Ca2+. Based on the latest research, the members of the caspase family, caspase-cascade system and caspase-regulating molecules involved in apoptosis are reviewed.

  14. Emerging Issues in Therapeutic Adventure with Families.

    Science.gov (United States)

    Burg, James E.

    2001-01-01

    Therapeutic adventure with families is a promising integration of adventure therapy and family therapy. Issues that must be addressed to legitimize the field include licensure and legal scope of practice, developing minimum standards for practitioners, incorporating family development and family therapy theories into practice, and conducting more…

  15. The Use of Photography in Family Psychotherapy.

    Science.gov (United States)

    Entin, Alan D.

    Photographs and family albums are helpful in marriage and family psychotherapy to aid in the understanding of family processes, relationship patterns, goals, expectations, values, traditions, and ideals. Based on the assumption that a photograph is a form of communication, photography can be used to: (1) examine typical family picture-taking…

  16. ADULT EDUCATION IN FAMILY BUSINESS PRACTICES.

    Science.gov (United States)

    DRAPER, ARGEN H.

    IN A STUDY OF FAMILY MONEY MANAGEMENT, A QUESTIONNAIRE WAS COMPLETED BY WIVES IN 94 FAMILIES SELECTED AT RANDOM FROM THOSE WHO HAD USED THE SERVICES OF THE EXTENSION OFFICE IN DEAF SMITH COUNTY, TEXAS. ONLY ONE FAMILY IN THE STUDY FOLLOWED ALL OF THE 16 SPECIFIED BUSINESS PRACTICES. IT WAS FOUND THAT, IN GENERAL, FAMILIES WERE FOLLOWING SPECIFIED…

  17. The One Child Family in Perspective.

    Science.gov (United States)

    Falbo, Toni

    The increase in one child families in the 1980's is analogous to the one child family rate during the Depression years. Although family size was limited for economic reasons during the Depression, current increases in the number of one child families are attributed to advances in contraceptive technology, increased employment of women, inhibiting…

  18. The Extended Family and Children's Educational Success

    Science.gov (United States)

    Jaeger, Mads Meier

    2012-01-01

    Research on family background and educational success focuses almost exclusively on two generations: parents and children. This study argues that the extended family contributes significantly to the total effect of family background on educational success. Analyses using the Wisconsin Longitudinal Study show that, net of family factors shared by…

  19. World Family Map Project. Prototype Report

    Science.gov (United States)

    Wilcox, W. Bradford; Lippman, Laura; Whitney, Camille

    2009-01-01

    In 2010, the "World Family Map Project" seeks to launch a research initiative that will track central indicators of family strength around the globe. The "World Family Map Project" (WFMP) would partner with Child Trends, a nonpartisan research organization in Washington, D.C., the Institute of Marriage and Family Canada, and research organizations…

  20. The Lore and Lure of Family Business.

    Science.gov (United States)

    Kaslow, Florence

    1993-01-01

    Explores the self of individuals involved, family business system, and societal context as three interacting, mutually impactful levels of unit to be addressed in family business consultation by family psychologists/therapists. Articulates some major premises about family businesses and presents case vignette to illustrate dynamics and functioning…