Sample records for large consanguineous family

  1. Novel homozygous large deletion including the 5? part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family

    PubMed Central

    Mayer, Anja-Kathrin; Mahajnah, Muhammad; Zobor, Ditta; Bonin, Michael; Sharkia, Rajech

    2015-01-01

    Purpose To identify the genetic defect in a consanguineous Israeli Muslim Arab family with juvenile retinitis pigmentosa (RP). Methods DNA samples were collected from the index patient, her parents, her affected sister, and two non-affected siblings. Genome-wide linkage analysis with 250 K single nucleotide polymorphism (SNP) arrays was performed using DNA from the two affected patients. Owing to consanguinity in the family, we applied homozygosity mapping to identify the disease-causing gene. The candidate gene SPATA7 was screened for mutations with PCR amplifications and direct Sanger sequencing. Results Following high-density SNP arrays, we identified several homozygous genomic regions one of which included the SPATA7 gene. Several mutations in SPATA7 have been reported for various forms of retinal dystrophy, including Leber congenital amaurosis (LCA) and juvenile RP. PCR-based sequence content mapping, long-distance PCR amplifications, and subsequent sequencing analysis revealed a homozygous 63.4 kb large deletion that encompasses the 5? part of the SPATA7 gene including exons 1–5. The mutation showed concordant segregation with the phenotype in the family as expected for autosomal recessive mode of inheritance and is consistent with a diagnosis of juvenile RP. Conclusions We report a novel homozygous large deletion in SPATA7 associated with juvenile RP in a consanguineous Israeli Muslim Arab family. This is the first larger deletion mutation reported for SPATA7. PMID:25814828

  2. A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

    PubMed Central

    Sajjad, Naheed; Goebel, Ingrid; Kakar, Naseebullah; Cheema, Abdul Majeed; Kubisch, Christian; Ahmad, Jamil

    2008-01-01

    Background Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene HSF4 (Genbank accession number NM_001040667). Here, we describe a family from Pakistan with the first nonsense mutation in HSF4 thus expanding the mutational spectrum of this heat shock transcription factor gene. Methods A large consanguineous Pakistani family with autosomal recessive cataracts was collected from Quetta. Genetic linkage analysis was performed for the common known autosomal recessive cataracts loci and linkage to a locus containing HSF4 (OMIM 602438) was found. All exons and adjacent splice sites of the heat shock transcription factor 4 gene (HSF4) were sequenced. A mutation-specific restriction enzyme digest (HphI) was performed for all family members and unrelated controls. Results The disease phenotype perfectly co-segregated with markers flanking the known cataract gene HSF4, whereas other autosomal recessive loci were excluded. A maximum two-point LOD score with a Zmax = 5.6 at ? = 0 was obtained for D16S421. Direct sequencing of HSF4 revealed the nucleotide exchange c.1213C > T in this family predicting an arginine to stop codon exchange (p.R405X). Conclusion We identified the first nonsense mutation (p.R405X) in exon 11 of HSF4 in a large consanguineous Pakistani family with autosomal recessive cataract. PMID:19014451

  3. Maternally inherited mitochondrial DNA disease in consanguineous families

    PubMed Central

    Alston, Charlotte L; He, Langping; Morris, Andrew A; Hughes, Imelda; Goede, Christian de; Turnbull, Douglass M; McFarland, Robert; Taylor, Robert W

    2011-01-01

    Mitochondrial respiratory chain disease represents one of the most common inborn errors of metabolism and is genetically heterogeneous, with biochemical defects arising from mutations in the mitochondrial genome (mtDNA) or the nuclear genome. As such, inheritance of mitochondrial respiratory chain disease can either follow dominant or recessive autosomal (Mendelian) inheritance patterns, the strictly matrilineal inheritance observed with mtDNA point mutations or X-linked inheritance. Parental consanguinity in respiratory chain disease is often assumed to infer an autosomal recessive inheritance pattern, and the analysis of mtDNA may be overlooked in the pursuit of a presumed nuclear genetic defect. We report the histochemical, biochemical and molecular genetic investigations of two patients with suspected mitochondrial disease who, despite being born to consanguineous first-cousin parents, were found to harbour well-characterised pathogenic mtDNA mutations, both of which were maternally transmitted. Our findings highlight that any diagnostic algorithm for the investigation of mitochondrial respiratory chain disease must include a full and complete analysis of the entire coding sequence of the mitochondrial genome in a clinically relevant tissue. An autosomal basis for respiratory chain disease should not be assumed in consanguineous families and that ‘maternally inherited consanguineous' mitochondrial disease may thus be going undiagnosed. PMID:21712854

  4. Moroccan consanguineous family with Becker myotonia and review.

    PubMed

    Ratbi, Ilham; Elalaoui, Siham Chafai; Escudero, Adela; Kriouile, Yamina; Molano, Jesus; Sefiani, Abdelaziz

    2011-10-01

    Myotonia congenita is a genetic muscle disorder characterized by clinical and electrical myotonia, muscle hypertrophy, and stiffness. It is inherited as either autosomal-dominant or -recessive, known as Thomsen and Becker diseases, respectively. These diseases are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness and pain. Mutations in the muscular voltage-dependent chloride channel gene (CLCN1), located at 7q35, have been found in both types. We report here the case of a Moroccan consanguineous family with a myotonic autosomal-recessive condition in two children. The molecular studies showed that the patients reported here are homozygous for mutation p.Gly482Arg in the CLCN1 gene. The parents were heterozygote carriers for mutation p.Gly482Arg. This diagnosis allowed us to provide an appropriate management to the patients and to make a genetic counselling to their family. PMID:22346025

  5. Moroccan consanguineous family with Becker myotonia and review

    PubMed Central

    Ratbi, Ilham; Elalaoui, Siham Chafai; Escudero, Adela; Kriouile, Yamina; Molano, Jesus; Sefiani, Abdelaziz

    2011-01-01

    Myotonia congenita is a genetic muscle disorder characterized by clinical and electrical myotonia, muscle hypertrophy, and stiffness. It is inherited as either autosomal-dominant or –recessive, known as Thomsen and Becker diseases, respectively. These diseases are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness and pain. Mutations in the muscular voltage-dependent chloride channel gene (CLCN1), located at 7q35, have been found in both types. We report here the case of a Moroccan consanguineous family with a myotonic autosomal-recessive condition in two children. The molecular studies showed that the patients reported here are homozygous for mutation p.Gly482Arg in the CLCN1 gene. The parents were heterozygote carriers for mutation p.Gly482Arg. This diagnosis allowed us to provide an appropriate management to the patients and to make a genetic counselling to their family. PMID:22346025

  6. Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.

    PubMed

    Shalata, Adel; Furman, Haya; Adir, Vardit; Adir, Noam; Hujeirat, Yasir; Shalev, Stavit A; Borochowitz, Zvi U

    2010-04-01

    The aims of this study were to (1) characterize the clinical phenotype, (2) define the causative mutation, and (3) correlate the clinical phenotype with genotype in a large consanguineous Arab family with myotonia congenita. Twenty-four family members from three generations were interviewed and examined. Genomic DNA was extracted from peripheral blood samples for sequencing the exons of the CLCN1 gene. Twelve individuals with myotonia congenita transmitted the condition in an autosomal dominant manner with incomplete penetrance. A novel missense mutation [568GG>TC (G190S)] was found in a dose-dependent clinical phenotype. Although heterozygous individuals were asymptomatic or mildly affected, the homozygous individuals were severely affected. The mutation is a glycine-to-serine residue substitution in a well-conserved motif in helix D of the CLC-1 chloride channel in the skeletal muscle plasmalemma. A novel mutation, 568GG>TC (G190S) in the CLCN1 gene, is responsible for autosomal dominant myotonia congenita with a variable phenotypic spectrum. PMID:19697366

  7. Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.

    PubMed

    Ahmed, Iltaf; Mittal, Kirti; Sheikh, Taimoor I; Vasli, Nasim; Rafiq, Muhammad Arshad; Mikhailov, Anna; Ohadi, Mehrnaz; Mahmood, Huda; Rouleau, Guy A; Bhatti, Attya; Ayub, Muhammad; Srour, Myriam; John, Peter; Vincent, John B

    2014-11-01

    Mirror movements (MRMV) are involuntary movements on one side of the body that mirror voluntary movements on the opposite side. Congenital mirror movement disorder is a rare, typically autosomal-dominant disorder, although it has been suspected that some sporadic cases may be due to recessive inheritance. Using a linkage analysis and a candidate gene approach, two genes have been implicated in congenital MRMV disorder to date: DCC on 18q21.2 (MRMV1), which encodes a netrin receptor, and RAD51 on 15q15.1 (MRMV2), which is involved in the maintenance of genomic integrity. Here, we describe a large consanguineous Pakistani family with 11 cases of congenital MRMV disorder reported across five generations, with autosomal recessive inheritance likely. Sanger sequencing of DCC and RAD51 did not identify a mutation. We then employed microarray genotyping and autozygosity mapping to identify a shared region of homozygosity-by-descent among the affected individuals. We identified a large autozygous region of ~3.3 Mb on chromosome 22q13.1 (Chr22:36605976-39904648). We used Sanger sequencing to exclude several candidate genes within this region, including DMC1 and NPTXR. Whole exome sequencing was employed, and identified a splice site mutation in the dynein axonemal light chain 4 gene, DNAL4. This splice site change leads to skipping of exon 3, and omission of 28 amino acids from DNAL4 protein. Linkage analysis using Simwalk2 gives a maximum Lod score of 6.197 at this locus. Whether or how DNAL4 function may relate to the function of DCC or RAD51 is not known. Also, there is no suggestion of primary ciliary dyskinesis, situs inversus, or defective sperm in affected family members, which might be anticipated given a putative role for DNAL4 in axonemal-based dynein complexes. We suggest that DNAL4 plays a role in the cytoplasmic dynein complex for netrin-1-directed retrograde transport, and in commissural neurons of the corpus callosum in particular. This, in turn, could lead to faulty cross-brain wiring, resulting in MRMV. PMID:25098561

  8. Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31

    PubMed Central

    Amiri-Kordestani, Laleh; Kaul, Haiba; Butt, Tariq; Jiao, Xiaodong; Riazuddin, Sheikh; Hejtmancik, J. Fielding

    2009-01-01

    Purpose To investigate the genetic basis of Marinesco-Sjogren syndrome (MSS) in consanguineous Pakistani families. Methods Two consanguineous Pakistani families with congenital cataract and muscular dystrophy were enrolled for this study. Detailed ophthalmic and systemic examination including slit lamp microscopy, electromyogram and computed tomography scans were performed to characterize the syndrome. Blood samples were collected from affected and unaffected individuals and a genome wide scan consisting of 382 polymorphic microsatellite markers was performed. Coding exons, exon-intron boundaries, 5’ UTR, and 3’ UTR of the candidate gene SIL1 residing in the linkage interval was sequenced bi-directionally. Results Clinical examination of the affected members of families 60067 and 60078 revealed features of MSS. The linked interval at chromosome 5q31 harbors SIL1. Sequencing of SIL1 in family 60067 revealed a homozygous substitution; c1240C>T, leading to a premature substitution; p.Q414X. Similarly, sequencing of SIL1 in family 60078 identified a homozygous change; c.274C>T, leading to a non conservative substitution; p.R92W. Conclusion In conclusion, our data report two novel missense mutations in two consanguineous Pakistani families affected with MSS. PMID:19471582

  9. Familial form of typical childhood absence epilepsy in a consanguineous context.

    PubMed

    Abouda, Hanen; Hizem, Yosr; Gargouri, Amina; Depienne, Christel; Bouteiller, Delphine; Riant, Florence; Tournier-Lasserve, Elisabeth; Gourfinkel-An, Isabelle; LeGuern, Eric; Gouider, Riadh

    2010-09-01

    Causative genes for childhood absence epilepsy (CAE) are unknown partly because families are small or phenotypically heterogeneous. In five consanguineous Tunisian families with at least two sibs with CAE, 14 patients fulfilled the diagnostic criteria for CAE (Epilepsia 1989; 30:389-399). Linkage analyses or direct sequencing excluded CACNG2, CACNA1A, CACNB4, and CACNA2D2, orthologs of genes responsible for autosomal recessive (AR) absence seizures in mice. These families will help identify (a) gene(s) responsible for CAE. PMID:20561025

  10. Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis.

    PubMed

    Ouragini, Houyem; Cherif, Faïka; Daoud, Wafa; Kassar, Selma; Charfeddine, Chérine; Rebaï, Ahmed; Boubaker, Samir; Ben Osman-Dhahri, Amel; Abdelhak, Sonia

    2008-08-01

    Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis caused by mutations in the type VII collagen gene COL7A1. Clinical diagnosis of DEB should be confirmed by histopathological and electron microscopy analysis, which is not always accessible. We report here a genetic investigation of DEB consanguineous families in Tunisia. A total of 23 EB families were genotyped with 5 microsatellite markers overlapping the COL7A1 gene. Among these families, 19 presented with the dystrophic form of EB, 9 were diagnosed by histopathological examination, 2 had the simplex form, 1 had a junctional EB, and 1 was affected by an unclassified form of EB. The informativeness of the markers was studied and allowed us to select three markers for genetic testing of DEB in Tunisian families at risk. Haplotype analysis and homozygosity by descent suggest that all families classified clinically as having DEB and the patient who presented with an unclassified form of EB are likely linked to the COL7A1 gene, and showed evidence for exclusion for the simplex and junctional cases. For COL7A1 linked families, two main haplotypes were shared by eight families. For all the other cases, haplotypic heterogeneity was observed, thus suggesting a mutational heterogeneity among Tunisian DEB families. The genetic results matched with the ultrastructural analysis in all the DEB families and with the clinical examination in 94.7% of all studied DEB families. This study is to our knowledge the first genetic investigation of DEB in the Maghrebian population. We propose a selection of informative markers and show the importance of haplotype analysis as a relatively easy and cost and time effective method for carrier screening and prenatal diagnosis of DEB in consanguineous families at risk. PMID:18496702

  11. Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families

    PubMed Central

    Rubio-Cabezas, Oscar; Patch, Ann-Marie; Minton, Jayne A. L.; Flanagan, Sarah E.; Edghill, Emma L.; Hussain, Khalid; Balafrej, Amina; Deeb, Asma; Buchanan, Charles R.; Jefferson, Ian G.; Mutair, Angham; Hattersley, Andrew T.; Ellard, Sian

    2009-01-01

    Context and Objective: Mutations in EIF2AK3 cause Wolcott-Rallison syndrome (WRS), a rare recessive disorder characterized by early-onset diabetes, skeletal abnormalities, and liver dysfunction. Although early diagnosis is important for clinical management, genetic testing is generally performed after the full clinical picture develops. We aimed to identify patients with WRS before any other abnormalities apart from diabetes are present and study the overall frequency of WRS among patients with permanent neonatal diabetes. Research Design and Methods: The coding regions of EIF2AK3 were sequenced in 34 probands with infancy-onset diabetes with a clinical phenotype suggestive of WRS (n = 28) or homozygosity at the WRS locus (n = 6). Results: Twenty-five probands (73.5%) were homozygous or compound heterozygous for mutations in EIF2AK3. Twenty of the 26 mutations identified were novel. Whereas a diagnosis of WRS was suspected before genetic testing in 22 probands, three patients with apparently isolated diabetes were diagnosed after identifying a large homozygous region encompassing EIF2AK3. In contrast to nonconsanguineous pedigrees, mutations in EIF2AK3 are the most common known genetic cause of diabetes among patients born to consanguineous parents (24 vs. < 2%). Age at diabetes onset and birth weight might be used to prioritize genetic testing in the latter group. Conclusions: WRS is the most common cause of permanent neonatal diabetes mellitus in consanguineous pedigrees. In addition to testing patients with a definite clinical diagnosis, EIF2AK3 should be tested in patients with isolated neonatal diabetes diagnosed after 3 wk of age from known consanguineous families, isolated populations, or countries in which inbreeding is frequent. PMID:19837917

  12. MED23-associated intellectual disability in a non-consanguineous family.

    PubMed

    Trehan, Aditi; Brady, Jacqueline M; Maduro, Valerie; Bone, William P; Huang, Yan; Golas, Gretchen A; Kane, Megan S; Lee, Paul R; Thurm, Audrey; Gropman, Andrea L; Paul, Scott M; Vezina, Gilbert; Markello, Thomas C; Gahl, William A; Boerkoel, Cornelius F; Tifft, Cynthia J

    2015-06-01

    Intellectual disability (ID) is a heterogeneous condition arising from a variety of environmental and genetic factors. Among these causes are defects in transcriptional regulators. Herein, we report on two brothers in a nonconsanguineous family with novel compound heterozygous, disease-segregating mutations (NM_015979.3: [3656A?>?G];[4006C?>?T], NP_057063.2: [H1219R];[R1336X]) in MED23. This gene encodes a subunit of the Mediator complex that modulates the expression of RNA polymerase II-dependent genes. These brothers, who had profound ID, spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography, represent the first case of MED23-associated ID in a non-consanguineous family. They also expand upon the clinical features previously reported for mutations in this gene. © 2015 Wiley Periodicals, Inc. PMID:25845469

  13. A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

    PubMed

    Baranello, Giovanni; Saredi, Simona; Sansanelli, Serena; Savadori, Paolo; Canioni, Eleonora; Chiapparini, Luisa; Balestri, Paolo; Malandrini, Alessandro; Arnoldi, Maria Teresa; Pantaleoni, Chiara; Morandi, Lucia; Mora, Marina

    2015-01-01

    Within the group of muscular dystrophies, dystroglycanopathies represent an important subgroup of recessively inherited disorders. Their severity varies from the relatively mild forms of adult-onset limb-girdle muscular dystrophy (LGMD), to the severe congenital muscular dystrophies (CMD) with cerebral and ocular involvement. We describe 2 consanguineous children of Pakistani origin, carrying a new homozygous missense mutation c.367G>A (p.Gly123Arg) in the ISPD gene. Mutations in this gene have been recently reported as a common cause of congenital and limb-girdle muscular dystrophy. Patient 1 is an 8-year-old female with an intermediate phenotype between CMD and early LGMD; patient 2 is a 20-month-old male and second cousin of patient 1, showing a CMD phenotype. Cognitive development, brain MRI, eye examination, electrocardiogram and echocardiogram were normal in both patients. To our knowledge, this is the first report on the co-occurrence of both a CMD/early LGMD intermediate phenotype and a CMD within the same family carrying a homozygous ISPD mutation. PMID:25444434

  14. A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.

    PubMed

    Deng, Ying; Huang, Hui; Wang, Yanping; Liu, Zhen; Li, Nana; Chen, Yanhua; Li, Xin; Li, Mingrong; Zhou, Xiaobo; Mu, Dezhi; Zhong, Jing; Wu, Jing; Su, Yan; Yi, Xin; Zhu, Jun

    2015-09-10

    Leber congenital amaurosis is the earliest onset and most severe inherited retinal dystrophy. Mutations in 21 genes have been identified to be responsible for LCA. To detect the causative variants, we performed targeted next generation sequencing in two affected siblings of a consanguineous Chinese family with suspected LCA. A novel homozygous missense mutation (c.721C>T, p. Pro241Ser) of NMNAT1 has been identified. The mutation was inherited from their consanguineous parents who were heterozygous and was absent in 300 unrelated healthy individuals. NMNAT1, which encodes the nicotinamide mononucleotide adenylyltransferase 1, has been recently identified to be one of the LCA-causing genes. Our results expanded the spectrum of mutations in NMNAT1. In this study, targeted next generation sequencing provides an accurate and efficient method for identifying mutations in hereditary diseases with highly genetic and clinical heterogeneity. PMID:25988908

  15. Homozygous Sequence Variants in the NPR2 Gene Underlying Acromesomelic Dysplasia Maroteaux Type (AMDM) in Consanguineous Families.

    PubMed

    Irfanullah; Umair, Muhammad; Khan, Saadullah; Ahmad, Wasim

    2015-07-01

    Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene located on chromosome 9p21-p12. The gene encodes the natriuretic peptide receptor B (NPR-B) that acts as an endogenous receptor for C-type natriuretic peptide (CNP). Both CNP and NPR-B are considered as important regulators of longitudinal growth. The study presented here investigated three consanguineous families (A, B, C) segregating AMDM in an autosomal recessive manner. Linkage in the families was established to the NPR2 gene on chromosome 9p12-21. Sequence analysis of the gene revealed two novel missense variants (p.Arg601Ser; p.Arg749Trp) in two families and a previously reported splice site variant (c.2986+2T>G) in the third family. PMID:25959430

  16. Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families

    PubMed Central

    Ajmal, Muhammad; Khan, Muhammad Imran; Neveling, Kornelia; Khan, Yar Muhammad; Ali, Syeda Hafiza Benish; Ahmed, Waqas; Iqbal, Muhammad Safdar; Azam, Maleeha; den Hollander, Anneke I.; Collin, Rob W.J.; Qamar, Raheel

    2012-01-01

    Purpose To identify the underlying genetic causes of fundus albipunctatus (FA), a rare form of congenital stationary night blindness that is characterized by the presence of white dots in the midperiphery of the retina and delayed dark adaptation, in Pakistan. Methods Two families with FA were identified by fundus examination, and genome-wide single nucleotide polymorphism genotyping was performed for two individuals from family A and six individuals from family B. Genotyping data were subsequently used to identify the identical homozygous regions present in the affected individuals of both families using the online homozygosity mapping tool Homozygosity Mapper. Candidate genes selected from the homozygous regions were sequenced. Results Three identical homozygous regions were identified in affected persons of family A (on chromosomes 8, 10, and 12), whereas a single shared homozygous region on chromosome 12 was found in family B. In both families, the homozygous region on chromosome 12 harbored the retinol dehydrogenase 5 (RDH5) gene, in which mutations are known to be causative of FA. RDH5 sequence analysis revealed a novel five base pair deletion, c.913_917delGTGCT (p.Val305Hisfs*29), in family A, and a novel missense mutation, c.758T>G (p.Met253Arg), in family B. Conclusions We identified two novel disease-causing RDH5 mutations in Pakistani families with FA, which will improve diagnosis and genetic counseling, and may even lead to treatment of this disease in these families. PMID:22736946

  17. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

    PubMed

    Alazami, Anas M; Patel, Nisha; Shamseldin, Hanan E; Anazi, Shamsa; Al-Dosari, Mohammed S; Alzahrani, Fatema; Hijazi, Hadia; Alshammari, Muneera; Aldahmesh, Mohammed A; Salih, Mustafa A; Faqeih, Eissa; Alhashem, Amal; Bashiri, Fahad A; Al-Owain, Mohammed; Kentab, Amal Y; Sogaty, Sameera; Al Tala, Saeed; Temsah, Mohamad-Hani; Tulbah, Maha; Aljelaify, Rasha F; Alshahwan, Saad A; Seidahmed, Mohammed Zain; Alhadid, Adnan A; Aldhalaan, Hesham; AlQallaf, Fatema; Kurdi, Wesam; Alfadhel, Majid; Babay, Zainab; Alsogheer, Mohammad; Kaya, Namik; Al-Hassnan, Zuhair N; Abdel-Salam, Ghada M H; Al-Sannaa, Nouriya; Al Mutairi, Fuad; El Khashab, Heba Y; Bohlega, Saeed; Jia, Xiaofei; Nguyen, Henry C; Hammami, Rakad; Adly, Nouran; Mohamed, Jawahir Y; Abdulwahab, Firdous; Ibrahim, Niema; Naim, Ewa A; Al-Younes, Banan; Meyer, Brian F; Hashem, Mais; Shaheen, Ranad; Xiong, Yong; Abouelhoda, Mohamed; Aldeeri, Abdulrahman A; Monies, Dorota M; Alkuraya, Fowzan S

    2015-01-13

    Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known disease genes had been excluded by autozygosity mapping and candidate gene analysis. This prescreening step led to the identification of 69 recessive genes not previously associated with disease, of which 33 are here described (SPDL1, TUBA3E, INO80, NID1, TSEN15, DMBX1, CLHC1, C12orf4, WDR93, ST7, MATN4, SEC24D, PCDHB4, PTPN23, TAF6, TBCK, FAM177A1, KIAA1109, MTSS1L, XIRP1, KCTD3, CHAF1B, ARV1, ISCA2, PTRH2, GEMIN4, MYOCD, PDPR, DPH1, NUP107, TMEM92, EPB41L4A, and FAM120AOS). We also encountered instances in which the phenotype departed significantly from the established clinical presentation of a known disease gene. Overall, a likely causal mutation was identified in >73% of our cases. This study contributes to the global effort toward a full compendium of disease genes affecting brain function. PMID:25558065

  18. Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports

    PubMed Central

    2010-01-01

    Introduction Mal de Meleda is a rare form of palmoplantar keratoderma, with autosomal recessive transmission. It is characterized by diffuse erythema and hyperkeratosis of the palms and soles. Recently, mutations in the ARS (component B) gene (ARS, MIM: 606119) on chromosome 8q24.3 have been identified in families with this disorder. Congenital cataract is a visual disease that may interfere with sharp imaging of the retina. Mutations in the heat-shock transcription factor 4 gene (HSF4; MIM: 602438) may result in both autosomal dominant and autosomal recessive congenital cataracts. Case presentation A Tunisian family with two female siblings aged 45 and 30 years, presented with a clinical association of mal de Meleda and congenital cataract. The two patients exhibited diffuse palmoplantar keratodermas. One of them presented with a total posterior subcapsular cataract and had a best corrected visual acuity at 1/20 in the left eye and with the right eye was only able to count fingers at a distance of one foot. The other woman had a slight posterior subcapsular lenticular opacity and her best corrected visual acuity was 8/10 in the right eye and with her left eye she was only able to count fingers at a distance of one foot. A mutational analysis of their ARS gene revealed the presence of the homozygous missense mutation C99Y and two single nucleotide polymorphisms (-55G>C and -60G>C). The splice mutation (c.1327+4A-G) within intron 12 of the HSF4 gene, which has been previously described in Tunisian families with congenital cataract, was not found in the two probands within this family. Conclusion To the best of our knowledge, such original clinical association has not been reported previously. The association of these two autosomal recessive diseases might have occurred in this family due to a high degree of inbreeding. The C99Y mutation may be specific to the Tunisian population as it has been exclusively reported so far in only three Tunisian families with mal de Meleda. PMID:20406438

  19. A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family.

    PubMed

    Tuncer, Feyza N; Gormez, Zeliha; Calik, Mustafa; Altiokka Uzun, Gunes; Sagiroglu, Mahmut S; Yuceturk, Betul; Yuksel, Bayram; Baykan, Betul; Bebek, Nerses; Iscan, Akin; Ugur Iseri, Sibel A; Ozbek, Ugur

    2015-07-01

    A consanguineous family from Turkey having two children with intellectual disability exhibiting myoclonic, febrile and other generalized seizures was recruited to identify the genetic origin of these phenotypes. A combined approach of SNP genotyping and exome sequencing was employed both to screen genes associated with Dravet syndrome and to detect homozygous variants. Analysis of exome data was extended further to identify compound heterozygosity. Herein, we report identification of two paternally inherited genetic variants in SCN1A (rs121917918; p.R101Q and p.I1576T), one of which was previously implicated in Dravet syndrome. Interestingly, the previously reported clinical variant (rs121917918; p.R101Q) displayed mosaicism in the blood and saliva of the father. The study supported the genetic diagnosis of affected children as Dravet syndrome possibly due to the combined effect of one clinically associated (rs121917918; p.R101Q) and one novel (p.I1576T) variants in SCN1A gene. This finding is important given that heterozygous variants may be overlooked in standard exome scans of consanguineous families. Thus, we are presenting an interesting example, where the inheritance of the condition may be misinterpreted as recessive and identical by descent due to consanguinity and mosaicism in one of the parents. PMID:25986186

  20. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.

    PubMed

    Ahmed, Saleem; Jelani, Musharraf; Alrayes, Nuha; Mohamoud, Hussein Sheikh Ali; Almramhi, Mona Mohammad; Anshasi, Wasim; Ahmed, Naushad Ali Basheer; Wang, Jun; Nasir, Jamal; Al-Aama, Jumana Yousuf

    2015-06-15

    Perrault syndrome (PRLTS) is a clinically and genetically heterogeneous disorder. Both male and female patients suffer from sensory neuronal hearing loss in early childhood, and female patients are characterized by premature ovarian failure and infertility after puberty. Clinical diagnosis may not be possible in early life, because key features of PRLTS, for example infertility and premature ovarian failure, do not appear before puberty. Limb spasticity, muscle weakness, and intellectual disability have also been observed in PRLTS patients. Mutations in five genes, HSD17B4, HARS2, CLPP, LARS2, and C10orf2, have been reported in five subtypes of PRLTS. We discovered a consanguineous Saudi family with the PRLTS3 phenotype showing an autosomal recessive mode of inheritance. The patients had developed profound hearing loss, brain atrophy, and lower limb spasticity in early childhood. For molecular diagnosis, we complimented genome-wide homozygosity mapping with whole exome sequencing analyses and identified a novel homozygous mutation in exon 6 of CLPP at chromosome 19p13.3. To our knowledge, early onset with regression is a unique feature of these PRLTS patients that has not been reported so far. This study broadens the clinical spectrum of PRLTS3. PMID:25956234

  1. From "New Genetics" to Everyday Knowledge: Ideas about How Genetic Diseases Are Transmitted in Two Large Brazilian Families

    ERIC Educational Resources Information Center

    Santos, Silvana; Bizzo, Nelio

    2005-01-01

    This study focuses on everyday or lay understandings of inheritance. In the northeastern Brazil, 100 individuals were interviewed in order to describe how they explain the origin of genetic disorders affecting their relatives for several generations. There were involved 60 individuals from a large consanguineous family with many members affected…

  2. Integration of Sequence Data from a Consanguineous Family with Genetic Data from an Outbred Population Identifies PLB1 as a Candidate Rheumatoid Arthritis Risk Gene

    PubMed Central

    Okada, Yukinori; Diogo, Dorothee; Greenberg, Jeffrey D.; Mouassess, Faten; Achkar, Walid A. L.; Fulton, Robert S.; Denny, Joshua C.; Gupta, Namrata; Mirel, Daniel; Gabriel, Stacy; Li, Gang; Kremer, Joel M.; Pappas, Dimitrios A.; Carroll, Robert J.; Eyler, Anne E.; Trynka, Gosia; Stahl, Eli A.; Cui, Jing; Saxena, Richa; Coenen, Marieke J. H.; Guchelaar, Henk-Jan; Huizinga, Tom W. J.; Dieudé, Philippe; Mariette, Xavier; Barton, Anne; Canhão, Helena; Fonseca, João E.; de Vries, Niek; Tak, Paul P.; Moreland, Larry W.; Bridges, S. Louis; Miceli-Richard, Corinne; Choi, Hyon K.; Kamatani, Yoichiro; Galan, Pilar; Lathrop, Mark; Raj, Towfique; De Jager, Philip L.; Raychaudhuri, Soumya; Worthington, Jane; Padyukov, Leonid; Klareskog, Lars; Siminovitch, Katherine A.; Gregersen, Peter K.; Mardis, Elaine R.; Arayssi, Thurayya; Kazkaz, Layla A.; Plenge, Robert M.

    2014-01-01

    Integrating genetic data from families with highly penetrant forms of disease together with genetic data from outbred populations represents a promising strategy to uncover the complete frequency spectrum of risk alleles for complex traits such as rheumatoid arthritis (RA). Here, we demonstrate that rare, low-frequency and common alleles at one gene locus, phospholipase B1 (PLB1), might contribute to risk of RA in a 4-generation consanguineous pedigree (Middle Eastern ancestry) and also in unrelated individuals from the general population (European ancestry). Through identity-by-descent (IBD) mapping and whole-exome sequencing, we identified a non-synonymous c.2263G>C (p.G755R) mutation at the PLB1 gene on 2q23, which significantly co-segregated with RA in family members with a dominant mode of inheritance (P?=?0.009). We further evaluated PLB1 variants and risk of RA using a GWAS meta-analysis of 8,875 RA cases and 29,367 controls of European ancestry. We identified significant contributions of two independent non-coding variants near PLB1 with risk of RA (rs116018341 [MAF?=?0.042] and rs116541814 [MAF?=?0.021], combined P?=?3.2×10?6). Finally, we performed deep exon sequencing of PLB1 in 1,088 RA cases and 1,088 controls (European ancestry), and identified suggestive dispersion of rare protein-coding variant frequencies between cases and controls (P?=?0.049 for C-alpha test and P?=?0.055 for SKAT). Together, these data suggest that PLB1 is a candidate risk gene for RA. Future studies to characterize the full spectrum of genetic risk in the PLB1 genetic locus are warranted. PMID:24520335

  3. Consanguineous marriages in Afghanistan.

    PubMed

    Saify, Khyber; Saadat, Mostafa

    2012-01-01

    The present cross-sectional study was done in order to illustrate the prevalence and types of consanguineous marriages among Afghanistan populations. Data on types of marriages were collected using a simple questionnaire. The total number of couples in the study was 7140 from the following provinces: Badakhshan, Baghlan, Balkh, Bamyan, Kabul, Kunduz, Samangan and Takhar. Consanguineous marriages were classified by the degree of relationship between couples: double first cousins, first cousins, first cousins once removed, second cousins and beyond second cousins. The coefficient of inbreeding (F) was calculated for each couple and the mean coefficient of inbreeding (?) estimated for each population. The proportion of consanguineous marriages in the country was 46.2%, ranging from 38.2% in Kabul province to 51.2% in Bamyan province. The equivalent mean inbreeding coefficient (?) was 0.0277, and ranged from 0.0221 to 0.0293 in these two regions. There were significant differences between provinces for frequencies of different types of marriages (p<0.001). First cousin marriages (27.8%) were the most common type of consanguineous marriages, followed by double first cousin (6.9%), second cousin (5.8%), beyond second cousin (3.9%) and first cousin once removed (1.8%). There were significant differences between ethnic groups for the types of marriages (?2=177.6, df=25, p<0.001). Tajiks (Soni) and Turkmens (also Pashtuns) showed the lowest (?=0.0250) and highest (?=0.0297) mean inbreeding coefficients, respectively, among the ethnic groups in Afghanistan. The study shows that Afghanistan's populations, like other Islamic populations, have a high level of consanguinity. PMID:21729362

  4. Consanguineous marriages in Morocco and the consequence for the incidence of autosomal recessive disorders.

    PubMed

    Jaouad, I Cherkaoui; Elalaoui, S Chafaï; Sbiti, A; Elkerh, F; Belmahi, L; Sefiani, A

    2009-09-01

    Consanguineous marriage is traditionally common throughout Arab countries. This leads to an increased birth prevalence of infants with recessive disorders, congenital malformations, morbidity and mortality. The aim of this study was to evaluate the rate of consanguineous marriage in families with autosomal recessive diseases, and to compare it with the average rate of consanguinity in the Moroccan population. The study was conducted in the Department of Medical Genetics in Rabat on 176 families with autosomal recessive diseases diagnosed and confirmed by clinical, radiological, enzymatic or molecular investigations. The rate of consanguinity was also studied in 852 families who had infants with trisomy 21 confirmed by karyotyping. These families were chosen because: (i) there is no association between trisomy 21 and consanguinity, (ii) these cases are referred from different regions of Morocco and (iii) they concern all social statuses. Among 176 families with autosomal recessive disorders, consanguineous marriages comprised 59.09% of all marriages. The prevalence of consanguinity in Morocco was found to be 15.25% with a mean inbreeding coefficient of 0.0065. The differences in the rates of consanguineous marriages were highly significant when comparing the general population and couples with offspring affected by autosomal recessive conditions. These results place Morocco among the countries in the world with high rates of consanguinity. Autosomal recessive disorders are strongly associated with consanguinity. This study better defines the health risks associated with consanguinity for the development of genetic educational guidelines targeted at the public and the health sector. PMID:19433002

  5. Community perceptions of reasons for preference for consanguineous marriages in Pakistan.

    PubMed

    Hussain, R

    1999-10-01

    Although the recent Pakistan Demographic and Health Survey (DHS) show that two-thirds of marriages in Pakistan are consanguineous, the sociocultural determinants of such marriages remain largely unexplored. This paper examines the relative importance of the three commonly perceived reasons for such marriages: religious, economic and cultural. The analysis is based on qualitative data collected in 1995 from multi-ethnic and multi-religious communities in Karachi, the largest city of Pakistan. Results show that consanguineous marriages are preferred across all ethnic and religious groups to a varying degree, and that parents continue to be the prime decision-makers for marriages of both sons and daughters. The major reasons for a preference for consanguineous marriages are sociocultural rather than any perceived economic benefits, either in the form of consolidation of family property or smaller and less expensive dowries. Among Muslims, following religious traditions is the least commonly cited reason for such marriages. Despite the reported sociocultural advantages of consanguineous marriages, such unions are perceived to be exploitative as they perpetuate the existing power structures within the family. PMID:10581876

  6. Consanguinity and reproductive health among Arabs

    Microsoft Academic Search

    Ghazi O Tadmouri; Pratibha Nair; Tasneem Obeid; Mahmoud T Al Ali; Najib Al Khaja; Hanan A Hamamy

    2009-01-01

    Consanguineous marriages have been practiced since the early existence of modern humans. Until now consanguinity is widely practiced in several global communities with variable rates depending on religion, culture, and geography. Arab populations have a long tradition of consanguinity due to socio-cultural factors. Many Arab countries display some of the highest rates of consanguineous marriages in the world, and specifically

  7. From new genetics to everyday knowledge: Ideas about how genetic diseases are transmitted in two large Brazilian families

    NASA Astrophysics Data System (ADS)

    Santos, Silvana; Bizzo, Nelio

    2005-07-01

    This study focuses on everyday or lay understandings of inheritance. In the northeastern Brazil, 100 individuals were interviewed in order to describe how they explain the origin of genetic disorders affecting their relatives for several generations. There were involved 60 individuals from a large consanguineous family with many members affected with a neurodegenerative disorder, SPOAN syndrome (spastic paraplegia, optic atrophy and neuropathy), and 40 individuals of another family living with neurofibromatosis type 1 (NF1). The results indicate that families here studied have built narratives to explain the origin of genetic diseases, saying that an ancestor infected with syphilis gave rise to disorders and birthmarks transmitted to descendents.

  8. The Perils of SNP Microarray Testing: Uncovering Unexpected Consanguinity

    PubMed Central

    Tarini, Beth A.; Konczal, Laura; Goldenberg, Aaron J.; Goldman, Edward B.; McCandless, Shawn E.

    2013-01-01

    Background While single nucleotide polymorphism (SNP) chromosomal microarrays identify areas of small genetic deletions/duplications, they can also reveal regions of homozygosity indicative of consanguinity. As more non-geneticists order SNP microarrays, they must prepare for the potential ethical, legal and social issues that result from revelation of unanticipated consanguinity. Patient An infant with multiple congenital anomalies underwent SNP microarray testing. Results The results of the SNP microarray revealed several large regions of homozygosity that indicated identity by descent most consistent with a second or third degree relative mating (e.g., uncle/ niece, half brother/sister, first cousins). Mother was not aware of the test's potential to reveal consanguinity. When informed of the test results, she reluctantly admitted to being raped by her half-brother around the time of conception. Conclusions During the pre-testing consent process, providers should inform parents that SNP microarray testing could reveal consanguinity. Providers must also understand the psychological implications, as well as the legal and moral obligations, that accompany SNP microarray results that indicate consanguinity. PMID:23827427

  9. Executive Managers in Large Mexican Family Businesses

    Microsoft Academic Search

    Taeko Hoshino

    2005-01-01

    The involvement of members of owners' families in the running of large family businesses in Mexico is decreasing. Although family members still hold key posts such as that of CEO, other executive posts tend to be delegated to professional salaried managers. Top managers, including family members, share some common characteristics. They are young compared with managers in other developed countries,

  10. Consanguinity and Neonatal Death: A Nested Case-Control Study

    PubMed Central

    Chaman, Reza; Gholami Taramsari, Mahshid; Khosravi, Ahmad; Amiri, Mohammad; Holakouie Naieni, Kourosh; Yunesian, Masoud

    2014-01-01

    Objective: Although numerous studies have found higher rates of abortion and still births following consanguinity (familial marriages), the question of whether consanguinity significantly increases the risk of neonatal death has inadequately been addressed.This study aims to evaluate familial marriage effects on neonatal death in rural areas in Iran. Materials and methods: In this nested case-control study, 6900 newbornswho were born in rural areas of Kohgiluyeh and Boyerahmad Province (South-West of Iran)were followed till the end of neonatal period, and neonatal death was the outcome of interest. Subsequently 97 cases and 97 controls were selected in study cohort by using risk set sampling model. Crude and adjusted odds ratios (OR) were estimated by usinga conditional logistic regression model. Results: In the final model, prematurity (OR = 5.57), low birthweight (LBW) (OR = 7.68), consanguinity (first cousins) (OR = 5.23), C-section (OR = 7.27), birth rank more than 3 (OR = 6.95) and birthsinterval less than 24 months (OR = 4.65) showed significant statistical association with neonatal mortality (p < 0.05). Conclusion: According to our findings, after adjusting the effects of other significant risk factors, familial marriageto first cousins is considered asan important risk factor for neonatal death. PMID:25530772

  11. Consanguineous matings in the Egyptian population

    Microsoft Academic Search

    M Hafez; H El-Tahan; M Awadalla; H El-Khayat; A Abdel-Gafar; M Ghoneim

    1983-01-01

    A total of 26 554 Egyptians was ascertained to study the incidence of consanguineous marriages. They were of different ages, different socioeconomic standards, and from different areas. There were 7646 from urban areas, 11 280 from suburban areas, and 7628 from rural areas. The incidence of consanguineous matings in the general population was found to be 28.96% with an average

  12. Consanguinity and prereproductive mortality in the Utah Mormon population.

    PubMed

    Jorde, L B

    2001-01-01

    To test the effects of parental consanguinity on mortality among offspring, inbreeding coefficients were estimated for 303,675 members of the Utah Mormon population who were born between 1847 and 1945. Although consanguinity has been relatively rare in this population, the large sample size permitted the identification of more than 3,500 inbred offspring. Among the offspring of unrelated parents, 13.2% died before the age of 16. Significant elevations in prereproductive mortality were seen among the offspring of first-cousin marriages (22%) and among the offspring of closer unions (32%). The cor- responding relative risks are 1.70 (95% confidence limits = 1.52, 1.91) and 2.41 (95% confidence limits = 1.59, 3.41), respectively. Other categories of relationship did not produce significant elevations in offspring mortality. Similar results were obtained when a case-control approach was used to remove the effects of socioeconomic variation. Consistent with many other studies of populations with low consanguinity rates, this population experienced a relatively high absolute increase in mortality among the offspring of first-cousin marriages (9%). Preliminary evidence is offered for the hypothesis that mortality differentials are larger in populations with low inbreeding and low mortality because nongenetic causes of death do not obscure the effects of consanguinity. PMID:11474206

  13. Large families of mutually singular Radon measures

    E-print Network

    Plebanek, Grzegorz

    Large families of mutually singular Radon measures David H. Fremlin & Grzegorz Plebanek \\Lambda mutually singular Radon probability measures. 1. Introduction. We present here a partial answer with a family (¯ s ) s2S of mu­ tually singular Radon measures on X such that #(S) ? #(X)? In section 2 we

  14. A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

    PubMed Central

    von Kleist-Retzow, J C; Cormier-Daire, V; de Lonlay, P; Parfait, B; Chretien, D; Rustin, P; Feingold, J; Rötig, A; Munnich, A

    1998-01-01

    By studying a large series of 157 patients, we found that complex I (33%), complex IV (28%), and complex I+IV (28%) deficiencies were the most common causes of respiratory chain (RC) defects in childhood. Truncal hypotonia (36%), antenatal (20%) and postnatal (31%) growth retardation, cardiomyopathy (24%), encephalopathy (20%), and liver failure (20%) were the main clinical features in our series. No correlation between the type of RC defect and the clinical presentation was noted, but complex I and complex I+IV deficiencies were significantly more frequent in cases of cardiomyopathy (P<.01) and hepatic failure (P<.05), respectively. The sex ratio (male/female) in our entire series was mostly balanced but was skewed toward males being affected with complex I deficiency (sex ratio R=1.68). Interestingly, a high rate of parental consanguinity was observed in complex IV (20%) and complex I+IV (28%) deficiencies. When parental consanguinity was related to geographic origin, an even higher rate of inbreeding was observed in North African families (76%, P<.01). This study gives strong support to the view that an autosomal recessive mode of inheritance is involved in most cases of mitochondrial disorders in childhood, a feature that is particularly relevant to genetic counseling for this devastating condition. PMID:9683589

  15. Asteroid family classification from very large catalogues

    NASA Astrophysics Data System (ADS)

    Lemaitre, Anne

    2005-02-01

    The paper presents a review of the recent contributions and open questions concerning the families of asteroids. Due to the availability of very large catalogues (synthetic and analytical proper elements of the asteroids and large observational surveys of their spectra) and to the introduction of non gravitational forces in their determination, the concept of static family has disappeared, to be replaced by this of dynamical families. The proper elements are not constant anymore but are ageing on very long timescales. The size distributions of the populations of asteroids, in and out the families, their ages, the ejection velocities of the fragments after an impact, have been reconsidered by several teams of research, with this new approach. Parallel numerical simulations of collisions and fragmentations of bodies have showed that most of the asteroids are likely rubble piles or agglomerates than monolithic blocks. The methods of classification have been refined and combine, in their newest versions, the dynamics and the observations, working now on 5 dimensional space instead of 3. A series of sub families of the large well-known families have been recently identified, using catalogues with more than 100 000 asteroids (the cluster Karin for example).

  16. Prevalence of consanguineous marriages in Syria.

    PubMed

    Othman, Hasan; Saadat, Mostafa

    2009-09-01

    Consanguineous marriage is the union of individuals having at least one common ancestor. The present cross-sectional study was done in order to illustrate the prevalence and types of consanguineous marriages in the Syrian Arab Republic. Data on consanguineous marriages were collected using a simple questionnaire. The total number of couples in this study was 67,958 (urban areas: 36,574 couples; rural areas: 31,384 couples) from the following provinces: Damascus, Hamah, Tartous, Latakia, Al Raqa, Homs, Edlep and Aleppo. In each province urban and rural areas were surveyed. Consanguineous marriage was classified by the degree of relationship between couples: double first cousins (F=1/8), first cousins (F=1/16), second cousins (F=1/64) and beyond second cousins (F<1/64). The coefficient of inbreeding (F) was calculated for each couple and the mean coefficient of inbreeding (alpha) estimated for the population of each province, stratified by rural and urban areas. The results showed that the overall frequency of consanguinity was 30.3% in urban and 39.8% in rural areas. Total rate of consanguinity was found to be 35.4%. The equivalent mean inbreeding coefficient (alpha) was 0.0203 and 0.0265 in urban and rural areas, respectively. The mean proportion of consanguineous marriages ranged from 67.5% in Al Raqa province to 22.1% in Latakia province. The alpha-value ranged from 0.0358 to 0.0127 in these two provinces, respectively. The western and north-western provinces (including Tartous, Lattakia and Edlep) recorded lower levels of inbreeding than the central, northern and southern provinces. The overall alpha-value was estimated to be about 0.0236 for the studied populations. First cousin marriages (with 20.9%) were the most common type of consanguineous marriages, followed by double first cousin (with 7.8%) and second cousin marriages (with 3.3%), and beyond second cousin was the least common type. PMID:19433003

  17. Consanguine Calculations Input File: blood.in

    E-print Network

    California at Berkeley, University of

    1 of 20 Problem A+ Consanguine Calculations Input File: blood.in Every person's blood has 2 markers in a particular ABO blood type for that person. Combination ABO Blood Type AA A AB AB AO A BB B BO B OO O Likewise, every person has two alleles for the blood Rh factor, represented by the characters + and -. Someone who

  18. Assessment of Association between Consanguinity and Fertility in Asian Populations

    Microsoft Academic Search

    Rafat Hussain; Alan H. Bittles

    2004-01-01

    Although a high proportion of marriages in Asia are consanguineous (i.e. contracted between close biological relatives), with some notable exceptions, there is a dearth of demographic and anthropological literature on the association between consanguinity and fertility. This paper presents an overview of the prevalence of consanguineous marriages in selected South and Southeast Asian countries, followed by an assessment of the

  19. Socioeconomic, demographic and legal influences on consanguinity and kinship in northern coastal Sweden 1780-1899.

    PubMed

    Egerbladh, I; Bittles, A H

    2011-07-01

    Most studies on consanguinity have been conducted on contemporary populations and have focused on the prevalence and types of preferred intra-familial marriage. With its comprehensive birth, marriage and deaths records dating back to the late 17th century, and the legal bar on first cousin marriage removed in the mid-19th century, Sweden offers unique opportunities to examine the factors that determine by whom, where and why consanguineous marriages were contracted. The present study covers the period 1780-1899 and presents a detailed portrait of cousin and sibling exchange marriages in the Skellefteå region of northern coastal Sweden. The combined prevalence of first, second and third cousin marriage increased from 2.3% in 1790-1810 to 8.8% in 1880-1899, and multi-generation consanguinity also increased significantly over the study period. The distribution and prevalence of first cousin marriages was strikingly non-random, with a significantly greater propensity for consanguinity among land-owning families, especially involving first-born sons, within specific pedigrees, and in a number of more remote inland communities. Additional factors associated with a greater likelihood of consanguineous marriage included physical or mental disability among males, and among females the prior birth of an illegitimate child. Besides the inherent interest in the social and demographic structure of this region of northern Sweden during the course of the 19th century, in future studies it will be important to determine the degree to which the observed patterns of consanguineous and sibling exchange marriages in these past generations could have influenced present-day genetic structure. PMID:21418728

  20. Does consanguinity increase the risk of schizophrenia? Study based on primary health care centre visits

    PubMed Central

    2012-01-01

    Background Consanguinity has been suggested as a risk factor for the development of schizophrenia in offspring in some Middle Eastern countries. Aim The purpose of this study was to review the frequency, pattern of parental consanguinity, and family history of schizophrenia among schizophrenia patients in Qatar, and to determine their impact on the associated risk factors. Design This is a cross-sectional study which was conducted between January 2009 and December 2010, in the setting of primary health care (PHC) centres of the Supreme Council of Health, State of Qatar. Subjects A total of 1491 patients aged 18–55 years were approached, of whom 1184 individuals agreed to participate in the study, giving a response rate of 79.4%. Methods The study was based on face-to-face interviews using a specially designed questionnaire that covered sociodemographic characteristics and genetic and other biological factors (e.g. obstetric complications), and a diagnostic screening questionnaire which consisted of six questions about the symptoms of schizophrenia. The diagnostic screening questionnaire was reviewed and used to calculate the final score, which determined a provisional diagnosis. The psychiatrists discussed the psychiatric diagnosis and confirmed it using DSM-IV criteria. The degree of consanguinity between the patient's parents was recorded. Consanguinity was evaluated based on the coefficient of inbreeding (F), which is the probability of homozygosity. Results More than half of the schizophrenia patients were female (57.1%) and over 45 years of age (62.5%). A family history of schizophrenia was significantly more common in parents of schizophrenia patients than in the Arab population without schizophrenia (24.6% vs. 17.1%; P = 0.038). Parental consanguinity was elevated among the patients with schizophrenia (41.3%) with a higher mean coefficient of inbreeding (0.04356 ± 0.028) than in non-schizophrenic subjects (28.7%) with a lower mean coefficient of inbreeding (0.0298 ± 0.035). Schizophrenia diagnoses were more frequent among the offspring of consanguineous parents than among the offspring of non-consanguineous parents. Conclusion The substantial risk observed in the present study reveals that consanguinity is an important risk factor for schizophrenia in Qatar. In addition, the study confirms that the higher familial risks provide strong genetic epidemiological evidence for the overall heritable effects in the aetiology of schizophrenia. PMID:24294299

  1. Consanguinity-related hyperdontia: An orthopantomographic study

    PubMed Central

    Shokry, Shereen M.; Alenazy, Mohammed S.

    2013-01-01

    Background: The aim of this retrospective study was to describe the distribution of the non-syndromal supernumerary teeth (NSST) in a population of patients who attended the clinics of Riyadh Colleges of Dentistry and Pharmacy (RCsDP), Riyadh, Saudi Arabia. Materials and Methods: The study reviewed 1521 panoramic radiographs of Saudi and non-Saudi subjects who attended RCsDP clinic from November 2009 to November 2010. The data were analyzed using the Statistical Package for Social Sciences, utilizing Chi-square. Results: Eighteen (1.2%) patients were found to have NSST, comprising twelve males (66.7%), and six females (33.3%). The most common supernumerary teeth (ST) were the pre-molars six cases (33.3%), followed by the mesiodens, five cases (27.8%). The canines and distomolars three cases (16.6%) each respectively, while the least were the lateral incisors and paramolars of the two cases (11.1%) each. Conclusion: Consanguinity appeared to have a role in the development of hyperdontia in Saudi population because 13 cases (72.2%) out of 18 cases had consanguineous parents, while all patients having consanguineous parents had eumorphic ST. PMID:24379860

  2. Does consanguinity lead to decreased incidence of breast cancer?

    Microsoft Academic Search

    Abdulbari Bener; Hanadi Rafii El Ayoubi; Awab Ibrahim Ali; Aisha Al-Kubaisi; Haya Al-Sulaiti

    2010-01-01

    Background: In the Middle East region, consanguinity remains to be a central feature where it has shown an increasing trend. Breast cancer is an extremely complex disease, characterized by a progressive multistep process caused by interactions of both environmental and genetic factors. Aim: The aim of this study was to examine the possible effect of consanguinity on the risk of

  3. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred

    PubMed Central

    Gulsuner, Suleyman; Tekinay, Ayse Begum; Doerschner, Katja; Boyaci, Huseyin; Bilguvar, Kaya; Unal, Hilal; Ors, Aslihan; Onat, O. Emre; Atalar, Ergin; Basak, A. Nazli; Topaloglu, Haluk; Kansu, Tulay; Tan, Meliha; Tan, Uner; Gunel, Murat; Ozcelik, Tayfun

    2011-01-01

    The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely rare phenotype associated with quadrupedal locomotion, mental retardation, and cerebro-cerebellar hypoplasia, linked to a 7.1-Mb region of homozygosity on chromosome 17p13.1–13.3. Diffusion weighted imaging and fiber tractography of the patients' brains revealed morphological abnormalities in the cerebellum and corpus callosum, in particular atrophy of superior, middle, and inferior peduncles of the cerebellum. Structural magnetic resonance imaging showed additional morphometric abnormalities in several cortical areas, including the corpus callosum, precentral gyrus, and Brodmann areas BA6, BA44, and BA45. Targeted sequencing of the entire homozygous region in three affected individuals and two obligate carriers uncovered a private missense mutation, WDR81 p.P856L, which cosegregated with the condition in the extended family. The mutation lies in a highly conserved region of WDR81, flanked by an N-terminal BEACH domain and C-terminal WD40 beta-propeller domains. WDR81 is predicted to be a transmembrane protein. It is highly expressed in the cerebellum and corpus callosum, in particular in the Purkinje cell layer of the cerebellum. WDR81 represents the third gene, after VLDLR and CA8, implicated in quadrupedal locomotion in humans. PMID:21885617

  4. Familial varices of the small and large bowel.

    PubMed

    Morini, S; Caruso, F; De Angelis, P

    1993-02-01

    Two familial cases of varices confined to the small and the large bowel are reported. Both patients were diagnosed in advanced age because of recurrent intestinal bleeding. The study of the entire gastrointestinal tract revealed an unexpected wide involvement and the primary nature of the varices. Moreover, both patients had coexistent adenomatous polyps. PMID:8491140

  5. A large family characterised by nocturnal sudden death

    PubMed Central

    van den Berg, M.P.; Viersma, J.W.; Beaufort-Krol, G.C.M.; Bink-Boelkens, M.Th.E.; Bezzina, C.R.; Veldkamp, M.W.; Brouwer, J.; Haaksma, J.; van Tintelen, J.P.; van Langen, I.M.; Wouda, A.A.; Wilde, A.A.M.

    2002-01-01

    Background We recently identified a novel mutation in large family characterised by premature nocturnal sudden death. In the present paper we provide an overview of the findings in this family. Methods From 1958 onwards, when the first patient presented, we collected clinical data on as many family members as possible. After identification in 1998 of the underlying genetic disorder (SCN5A, 1795insD), genotyping was performed diagnostically. Results Since 1905 unexplained sudden death occurred in 26 family members, 17 of whom died during the night. Besides sudden death, symptomatology was rather limited; only six patients reported syncopal attacks. In one of them, a 13-year-old boy, asystolic episodes up to nine seconds were documented. Until now, the mutation has been found in 114 family members (57 males, 57 females). Carriers of the mutant gene exhibited bradycardia-dependent QT-prolongation, intrinsic sinus node dysfunction, generalised conduction abnormalities, a paucity of ventricular ectopy, and the Brugada sign. Cardiomyopathy or other structural abnormalities were not found in any of the carriers. Electrophysiological studies showed that mutant channels were characterised by markedly reduced INa amplitude, a positive shift of voltage-dependence of activation and a substantial negative shift of voltage-dependence of inactivation of INa. From 1978 onwards, a pacemaker for anti-brady pacing was implanted for prevention of sudden death. In patients in whom a prophylactic pacemaker was implanted no unexplained sudden death occurred, whereas 5 sudden deaths occurred in the group of patients who did not receive a pacemaker. Conclusion We have described a large family with a SCN5A-linked disorder (1795insD) with features of LQT3, Brugada syndrome and familial conduction system disease. Anti-brady pacing was successful in preventing sudden death. The mode of death is possibly bradycardic. ImagesFigure 5 PMID:25696119

  6. Consanguinity and other marriage market effects of a wealth shock in Bangladesh.

    PubMed

    Mobarak, Ahmed Mushfiq; Kuhn, Randall; Peters, Christina

    2013-10-01

    This paper uses a wealth shock from the construction of a flood protection embankment in rural Bangladesh coupled with data on the universe of all 52,000 marriage decisions between 1982 and 1996 to examine changes in marital prospects for households protected by the embankment relative to unprotected households living on the other side of the river. We use difference-in-difference specifications to document that brides from protected households commanded larger dowries, married wealthier households, and became less likely to marry biological relatives. Financial liquidity-constrained households appear to use within-family marriage (in which one can promise ex-post payments) as a form of credit to meet up-front dowry demands, but the resultant wealth shock for households protected by the embankment relaxed this need to marry consanguineously. Our results shed light on the socioeconomic roots of consanguinity, which carries health risks for offspring but can also carry substantial benefits for the families involved. PMID:23619998

  7. Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

    PubMed Central

    Kamphans, Tom; Sabri, Peggy; Zhu, Na; Heinrich, Verena; Mundlos, Stefan; Robinson, Peter N.; Parkhomchuk, Dmitri; Krawitz, Peter M.

    2013-01-01

    The identification of disease-causing mutations in next-generation sequencing (NGS) data requires efficient filtering techniques. In patients with rare recessive diseases, compound heterozygosity of pathogenic mutations is the most likely inheritance model if the parents are non-consanguineous. We developed a web-based compound heterozygous filter that is suited for data from NGS projects and that is easy to use for non-bioinformaticians. We analyzed the power of compound heterozygous mutation filtering by deriving background distributions for healthy individuals from different ethnicities and studied the effectiveness in trios as well as more complex pedigree structures. While usually more then 30 genes harbor potential compound heterozygotes in single exomes, this number can be markedly reduced with every additional member of the pedigree that is included in the analysis. In a real data set with exomes of four family members, two sisters affected by Mabry syndrome and their healthy parents, the disease-causing gene PIGO, which harbors the pathogenic compound heterozygous variants, could be readily identified. Compound heterozygous filtering is an efficient means to reduce the number of candidate mutations in studies aiming at identifying recessive disease genes in non-consanguineous families. A web-server is provided to make this filtering strategy available at www.gene-talk.de. PMID:23940540

  8. Consanguineous marriage and congenital heart defects: a case-control study in the neonatal period.

    PubMed

    Yunis, Khalid; Khalid, Yunis; Mumtaz, Ghina; Ghina, Mumtaz; Bitar, Fadi; Fadi, Bitar; Chamseddine, Fadi; Fadi, Chamseddine; Kassar, May; May, Kassar; Rashkidi, Joseph; Joseph, Rashkidi; Makhoul, Ghaith; Makhoul, Ghaith; Tamim, Hala; Hala, Tamim

    2006-07-15

    The independent effect of consanguinity on the prevalence of congenital heart defects (CHDs), all and specific types, was investigated in newborns admitted to nine hospitals located in Beirut, Lebanon and members of the National Collaborative Perinatal Neonatal Network (NCPNN). Cases were 173 newborns admitted to the Neonatal Intensive Care Units (NICU) of participating hospitals during the 3-year period from January 1, 2000 to December 31, 2002 and diagnosed during their hospital stay as having one or more CHD. Cases with chromosomal abnormalities were excluded. Cases with more than one CHD were assigned one principal malformation. Controls consisted of a random sample of 865 newborns without a CHD admitted to the NICU during the same period. After controlling for confounders, first cousin consanguinity remained significantly associated with an increased risk of CHD: infants born to first cousin marriages had a 1.8 times higher risk of having a CHD diagnosed at birth compared to those born to unrelated parents (95% CI: 1.1-3.1). In particular, first-cousin marriage was a significant risk factor for ventricular septal defect (VSD), atrial septal defect (ASD), hypoplastic left heart (HLH), and single ventricle (SV). No association was found with d-transposition of the great arteries, coarctation, pulmonary atresia (PA), atrioventricular septal defect (AVSD), and tetralogy of Fallot (TOF). The results of this study suggest a familial factor in the multifactorial etiology of CHDs. Additional epidemiologic and family-based genetic studies are needed to understand the complex cause of CHDs. PMID:16763961

  9. Letters to the Editor CONSANGUINITY AND HETEROGENEITY: CYSTIC FIBROSIS

    E-print Network

    Botstein, David

    Letters to the Editor CONSANGUINITY AND HETEROGENEITY: CYSTIC FIBROSIS NEED NOT BE HOMOGENEOUS, ET AL.: Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis. Am J Hum Genet 37:338-349, 1985 2. Tsui LC, BUCHWALD M, BARKER D, ET AL.: Cystic fibrosis locus defined

  10. Complex genetic background in a large family with Brugada syndrome

    PubMed Central

    Saber, Siamak; Amarouch, Mohamed?Yassine; Fazelifar, Amir?Farjam; Haghjoo, Majid; Emkanjoo, Zahra; Alizadeh, Abolfath; Houshmand, Massoud; Gavrilenko, Alexander V.; Abriel, Hugues; Zaklyazminskaya, Elena V.

    2015-01-01

    Abstract The Brugada syndrome (BrS) is an inherited arrhythmia characterized by ST?segment elevation in V1–V3 leads and negative T wave on standard ECG. BrS patients are at risk of sudden cardiac death (SCD) due to ventricular tachyarrhythmia. At least 17 genes have been proposed to be linked to BrS, although recent findings suggested a polygenic background. Mutations in SCN5A, the gene coding for the cardiac sodium channel Nav1.5, have been found in 15–30% of index cases. Here, we present the results of clinical, genetic, and expression studies of a large Iranian family with BrS carrying a novel genetic variant (p.P1506S) in SCN5A. By performing whole?cell patch?clamp experiments using HEK293 cells expressing wild?type (WT) or p.P1506S Nav1.5 channels, hyperpolarizing shift of the availability curve, depolarizing shift of the activation curve, and hastening of the fast inactivation process were observed. These mutant?induced alterations lead to a loss of function of Nav1.5 and thus suggest that the p.P1506S variant is pathogenic. In addition, cascade familial screening found a family member with BrS who did not carry the p.P1506S mutation. Additional next generation sequencing analyses revealed the p.R25W mutation in KCNH2 gene in SCN5A?negative BrS patients. These findings illustrate the complex genetic background of BrS found in this family and the possible pathogenic role of a new SCN5A genetic variant. PMID:25626866

  11. Complex genetic background in a large family with Brugada syndrome.

    PubMed

    Saber, Siamak; Amarouch, Mohamed-Yassine; Fazelifar, Amir-Farjam; Haghjoo, Majid; Emkanjoo, Zahra; Alizadeh, Abolfath; Houshmand, Massoud; Gavrilenko, Alexander V; Abriel, Hugues; Zaklyazminskaya, Elena V

    2015-01-01

    The Brugada syndrome (BrS) is an inherited arrhythmia characterized by ST-segment elevation in V1-V3 leads and negative T wave on standard ECG. BrS patients are at risk of sudden cardiac death (SCD) due to ventricular tachyarrhythmia. At least 17 genes have been proposed to be linked to BrS, although recent findings suggested a polygenic background. Mutations in SCN5A, the gene coding for the cardiac sodium channel Nav1.5, have been found in 15-30% of index cases. Here, we present the results of clinical, genetic, and expression studies of a large Iranian family with BrS carrying a novel genetic variant (p.P1506S) in SCN5A. By performing whole-cell patch-clamp experiments using HEK293 cells expressing wild-type (WT) or p.P1506S Nav1.5 channels, hyperpolarizing shift of the availability curve, depolarizing shift of the activation curve, and hastening of the fast inactivation process were observed. These mutant-induced alterations lead to a loss of function of Nav1.5 and thus suggest that the p.P1506S variant is pathogenic. In addition, cascade familial screening found a family member with BrS who did not carry the p.P1506S mutation. Additional next generation sequencing analyses revealed the p.R25W mutation in KCNH2 gene in SCN5A-negative BrS patients. These findings illustrate the complex genetic background of BrS found in this family and the possible pathogenic role of a new SCN5A genetic variant. PMID:25626866

  12. A large family of filled skutterudites stabilized by electron count

    NASA Astrophysics Data System (ADS)

    Luo, Huixia; Krizan, Jason W.; Muechler, Lukas; Haldolaarachchige, Neel; Klimczuk, Tomasz; Xie, Weiwei; Fuccillo, Michael K.; Felser, Claudia; Cava, Robert J.

    2015-03-01

    The Zintl concept is important in solid-state chemistry to explain how some compounds that combine electropositive and main group elements can be stable at formulas that at their simplest level do not make any sense. The electronegative elements in such compounds form a polyatomic electron-accepting molecule inside the solid, a ‘polyanion’, that fills its available energy states with electrons from the electropositive elements to obey fundamental electron-counting rules. Here we use this concept to discover a large family of filled skutterudites based on the group 9 transition metals Co, Rh, and Ir, the alkali, alkaline-earth, and rare-earth elements, and Sb4 polyanions. Forty-three new filled skutterudites are reported, with 63 compositional variations—results that can be extended to the synthesis of hundreds of additional new compounds. Many interesting electronic and magnetic properties can be expected in future studies of these new compounds.

  13. A large family of filled skutterudites stabilized by electron count.

    PubMed

    Luo, Huixia; Krizan, Jason W; Muechler, Lukas; Haldolaarachchige, Neel; Klimczuk, Tomasz; Xie, Weiwei; Fuccillo, Michael K; Felser, Claudia; Cava, Robert J

    2015-01-01

    The Zintl concept is important in solid-state chemistry to explain how some compounds that combine electropositive and main group elements can be stable at formulas that at their simplest level do not make any sense. The electronegative elements in such compounds form a polyatomic electron-accepting molecule inside the solid, a 'polyanion', that fills its available energy states with electrons from the electropositive elements to obey fundamental electron-counting rules. Here we use this concept to discover a large family of filled skutterudites based on the group 9 transition metals Co, Rh, and Ir, the alkali, alkaline-earth, and rare-earth elements, and Sb4 polyanions. Forty-three new filled skutterudites are reported, with 63 compositional variations--results that can be extended to the synthesis of hundreds of additional new compounds. Many interesting electronic and magnetic properties can be expected in future studies of these new compounds. PMID:25744553

  14. The practice of consanguineous marriage in Oman: prevalence, trends and determinants.

    PubMed

    Islam, M Mazharul

    2012-09-01

    The practice of consanguineous marriage has been the culturally preferred form of marriage in most Arab and the Middle Eastern countries, including Oman, but due to a paucity of population-based data in the past there is a dearth of information about its form and dynamics in Oman. Recent national-level surveys allow this gap to be filled. This paper examines the prevalence, trends and determinants of consanguineous marriages in Oman using data from the 2000 Oman National Health Survey. The results indicate a very high prevalence of consanguineous marriage in Oman, as more than half (52%) of marriages are consanguineous. First cousin unions are the most common type of consanguineous unions, constituting 39% of all marriages and 75% of all consanguineous marriages. The study observed various patterns of consanguinity, some of them common with other Arab nations, and some unique in nature. Women's age at marriage, employment, place of childhood residence and geographical region appear to be significant determinants of consanguineous marriages. Consanguineous marriage shows a strong association with marital stability, early age at marriage and early-age childbearing. There has been no appreciable change in the prevalence of consanguineous unions in Oman over the last four decades despite massive socioeconomic development and modernization. However, recent marriage cohorts show slight declining trends. The results suggest that consanguinity is likely to remain stable in the future or decline at a slow rate. Specific health education and genetic counselling should be followed in line with WHO recommendations to minimize the negative health consequences of consanguinity for child health. PMID:22317781

  15. Familial hiatal hernia in a large five generation family confirming true autosomal dominant inheritance

    PubMed Central

    Carre, I; Johnston, B; Thomas, P; Morrison, P

    1999-01-01

    BACKGROUND—Familial hiatal hernia has only rarely been documented.?AIMS—To describe the pattern of inheritance of familial hiatal hernia within an affected family.?SUBJECTS—Thirty eight members of a family pedigree across five generations.?METHODS—All family members were interviewed and investigated by barium meal for evidence of a hiatal hernia.?RESULTS—Twenty three of 38 family members had radiological evidence of a hiatal hernia. No individual with a hiatal hernia was born to unaffected parents. In one case direct male to male transmission was shown.?CONCLUSIONS—Familial inheritance of hiatal hernia does occur. Evidence of direct male to male transmission points to an autosomal dominant mode of inheritance.???Keywords: familial hiatal hernia; Barrett's oesophagus; autosomal dominant genetics PMID:10517898

  16. Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes

    PubMed Central

    Al-Gazali, L; Sztriha, L; Dawodu, A; Varady, E; Bakir, M; Khdir, A; Johansen, J

    1999-01-01

    Short rib-polydactyly syndromes (SRPS) are a heterogeneous group of recessively inherited lethal skeletal dysplasias. Four types have been recognised. However, overlap in the clinical and radiological features of the four types has led to difficulties in distinguishing between them.?  The congenital infection-like syndrome is an autosomal recessive syndrome characterised by mental retardation, microcephaly, seizures, and intracranial calcifications.?  We report a complex consanguineous family of Baluchi origin in whom short rib-polydactyly type III and congenital infection-like syndrome are segregating. Four children inherited SRPS III, one inherited congenital infection-like syndrome, and one inherited both. Although the radiological features in all the children with SRPS in this report were typical of type III, there was overlap in the clinical features with the other types of SRP syndromes. Furthermore, the child who inherited both SRPS III and congenital infection-like syndrome had CNS malformations in addition to periventricular calcification. CNS malformations have been described in SRPS types II and IV but not type III.?  This report further highlights the overlap between the different types of SRP syndrome. Moreover, it draws attention to the importance of considering the possibility of two recessive syndromes in the same child in complex consanguineous families when features overlap two syndromes.???Keywords: complex consanguinity; short rib-polydactyly syndrome III; congenital infection-like syndrome PMID:10874634

  17. The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.

    PubMed

    Tan, Christopher A; Topper, Scott; Ward Melver, Catherine; Stein, Jennifer; Reeder, Amanda; Arndt, Kelly; Das, Soma

    2014-04-01

    Primary autosomal recessive microcephaly (MCPH) is a genetically heterogeneous condition characterized by congenital microcephaly and intellectual disability. To date, 10 MCPH loci have been identified and due to the genetic heterogeneity of this condition, molecular testing for MCPH can be complicated. Our methods involved employing a next generation sequencing panel of MCPH-related genes allowing for the evaluation of multiple disease loci simultaneously. Next generation sequencing analysis of a 6 year old female with primary microcephaly identified novel compound heterozygous mutations (c.524_528del and c.4005-1G>A) in the CDK5RAP2 gene. A review of the published literature to date reveals that only three mutations have been previously reported in the CDK5RAP2 gene in the homozygous state in three Northern Pakistani and one Somali consanguineous MCPH families. Our patient represents the first non-consanguineous Caucasian individual to have been identified with CDK5RAP2-related MCPH. As only a handful of patients have been reported in the literature with CDK5RAP2-related MCPH, we anticipate the identification of individuals with CDK5RAP2 mutations from all ethnic backgrounds will continue. Our patient contributes to the ethnic and genotypic spectrum of CDK5RAP2-related MCPH and supports the occurrence of this genetic condition beyond that of consanguineous families of certain ethnic populations. Our results also highlight the utility of multi-gene sequencing panels to elucidate the etiology of genetically heterogeneous conditions. PMID:23726037

  18. The relationship between consanguineous marriage and death in fetus and infants

    PubMed Central

    Mohammadi, Majid Mehr; Hooman, Heidar Ali; Afrooz, Gholam Ali; Daramadi, Parviz Sharifi

    2012-01-01

    Background: Given the high prevalence of consanguineous marriages in rural and urban areas of Iran, the aim of this study was to identify its role in increasing fetal and infant deaths. Materials ans Methods: This was a cross-sectional study in which 494 mothers with more than one exceptional child (mentally retarded and physically-dynamically disabled) or with normal children were selected based on multi-stage random sampling method. Data was gathered using the features of parents with more than one exceptional child questionnaire. The validity and reliability of this questionnaire was acceptable. Hierarchical log-linear method was used for statistical analysis. Results: Consanguineous marriage significantly increased the number of births of exceptional children. Moreover, there was a significant relation between the history of fetal/infant death and belonging to the group. There was a significant relation between consanguineous marriage and the history of fetal/infant death which means consanguineous marriage increased the prevalence of fetal/infant death in parents with exceptional children rather than in parents with normal children. Conclusions: The rate of fetal/infant death in exceptional births of consanguineous marriages was higher than that of non-consanguineous marriages. PMID:23626609

  19. Consanguinity in Qatar: knowledge, attitude and practice in a population born between 1946 and 1991.

    PubMed

    Sandridge, A L; Takeddin, J; Al-Kaabi, E; Frances, Y

    2010-01-01

    From March 2007 to March 2008 a cross-sectional study was conducted in Qatar to estimate the prevalence of consanguinity among Qataris and to assess their knowledge of the risks and their attitudes towards the practice. A secondary objective was to test the acceptability of sixteen Likert-style questions within the Qatari population. Face-to-face interviews using a 70-item structured questionnaire were conducted by three native Arabic-speaking medical students with 362 Qatari employees. Where consanguinity existed between the employee's parents, a diagram of the consanguinal relationship (phylogram) was completed. The response rate was 93%. By phylogram, 22% of participants reported a cousin relationship between their parents (consanguinal relationship) and another 15% reported that their parents were from the same tribe (affinal relationship). With respect to their own marital decision, 68% of the respondents had been married at least once. By phylogram, 35% of these reported a consanguineous relationship (first marriage), 9% reported only an affinal relationship and 56% reported that they were not married to a blood relative. Results on the sixteen Likert-style attitude questions were stratified by consanguinity status of parents and of self. In the stratification by consanguinity status of parents the top five attitudes differed by group but there appeared to be more similarity between the consanguinal and only tribal groups. Attitudinal results were stratified by sex. Results showed that the males had a stronger belief in several of the attitudes than females with the exception of causation of genetic abnormalities and health problems. The phylogram was shown to collect more detailed and explicit data than hard-coding. With respect to knowledge, the results showed that knowledge was imperfect with high proportions of participants not knowing that consanguinity has been implicated in autosomal recessive diseases such as thalassaemia, inborn errors of metabolism, deafness, anomalies of the extremities and specific congenital heart defects. Additionally, a sizeable proportion of the participants did not know that a more distant cousin marriage (e.g. third cousin) theoretically could be a less genetically risky choice to potential offspring than a closer cousin marriage (half-first cousin). These results indicate that more effort needs to be made in developing public health strategies to improve the population's understanding of the cost-benefit analysis involved in contracting consanguineous marriages given the goal of healthy offspring. PMID:19895726

  20. The roles of segmental and tandem gene duplication in the evolution of large gene families in Arabidopsis thaliana

    Microsoft Academic Search

    Steven B Cannon; Arvind Mitra; Andrew Baumgarten; Nevin D Young; Georgiana May

    2004-01-01

    BACKGROUND: Most genes in Arabidopsis thaliana are members of gene families. How do the members of gene families arise, and how are gene family copy numbers maintained? Some gene families may evolve primarily through tandem duplication and high rates of birth and death in clusters, and others through infrequent polyploidy or large-scale segmental duplications and subsequent losses. RESULTS: Our approach

  1. The fragile X syndrome in a large family. II. Psychological investigations

    Microsoft Academic Search

    H Veenema; T Veenema; J P Geraedts

    1987-01-01

    Intelligence levels and intelligence profiles were investigated in 52 members of a large family with the fragile X syndrome. The mental abilities were evaluated by the three Wechsler intelligence tests (WAIS, WISC-R, and WPPSI). Chromosomal and psychological data were then compared. In 22 non-retarded fra(X) negative family members, a mean IQ of 102 was found (males 97, females 106). Eleven

  2. Clinical and molecular studies in a large dutch family with Noonan syndrome

    SciTech Connect

    Burgt, I. van der; Berends, E.; Lommen, E.; Beersum, S. van; Hamel, B.; Mariman, E. [University Hospital Nijmegen, Veldhoven (Netherlands)

    1994-11-01

    We describe the largest Noonan syndrome (NS) family reported to date. The manifestations of the affected relatives are discussed. In the absence of a biochemical marker NS is still a clinical diagnosis. The diagnostic criteria that were used are presented compared with other published criteria for diagnosing NS. The large size of this family enabled us to test the possible involvement of candidate regions by multipoint linkage analysis. Both the region surrounding the NF1 locus on chromosome 17 and the proximal part of chromosome 22 could be excluded. Since NS may well be heterogeneous, the use of such a large family in linkage studies of NS should prove indispensable. 16 refs., 6 figs., 1 tab.

  3. Impact of consanguinity on cardio-metabolic health and other diseases: findings from an Afro-Indian tribal community.

    PubMed

    Bhasin, Prerna; Kapoor, Satwanti

    2015-04-01

    Numerous anthropological reports have indicated consanguineous marriage in populous Asian countries, but the overall impact of first cousin marriage on survival and health of specific communities has rarely been reported. The aim of the study was to estimate risks for various complex diseases in the progeny of consanguineous parents. A cross-sectional study was conducted among 222 women among Siddis, a particularly vulnerable tribal group in the state of Gujarat, India, who are Sunni Muslims by faith. The Siddis are not part of the original Negrito element of India. They are descendants of Africans from Northeast and East Africa who were brought to India as slaves, soldiers, or servants. The degree of consanguinity between each female and her spouse and the degree of consanguinity between their parents and proband's grandparents were recorded with the help of pedigrees. The results showed that the rate of consanguinity in the present generation was 49 % (N?=?109), higher than preceding generations. A significant association was observed between women's age, educational level, occupational status, consanguineous parents, and consanguinity. Socioeconomic status and consanguinity showed U-shaped associations. Nearly three times odds for cardio-metabolic risks (2.65 odds ratio (OR) for heart diseases, 2.44 OR for diabetes mellitus, and 2.62 OR for hypertension) have been contracted in the progeny of consanguineous marriage in the parental generation. The risk of cardio-metabolic diseases is higher in offspring of consanguineous couples, and there is a significant increase in the prevalence of common adult diseases. PMID:25524067

  4. A Large Multiple Endocrine Neoplasia Type 1 Family with Clinical Expression Suggestive of Anticipation

    Microsoft Academic Search

    SOPHIE GIRAUD; HELENE CHOPLIN; BIN TEAN TEH; JAMES LESPINASSE; ANNE JOUVET; FRANCOISE LABAT-MOLEUR; GILBERT LENOIR; BEATRICE HAMON; PATRICK HAMON; ALAIN CALENDER

    2010-01-01

    We describe a large multigenerational multiple endocrine neopla- sia Type 1 (MEN1) family with clinical expression suggestive of an- ticipation. In the second and third generations, two deceased obligate gene carriers died at the ages of 85 and 76 without the history of MEN1, whereas two other living gene carriers above the age of 65 have had no clinical evidence

  5. Consanguinity: A Risk Factor for Preterm Birth at Less Than 33 Weeks’ Gestation

    PubMed Central

    Mumtaz, Ghina; Nassar, Anwar H.; Mahfoud, Ziyad; El-Khamra, Akaber; Al-Choueiri, Nathalie; Adra, Abdallah; Murray, Jeffrey C.; Zalloua, Pierre; Yunis, Khalid A.

    2010-01-01

    Consanguinity promotes homozygosity of recessive susceptibility gene variants and can be used to investigate a recessive component in diseases whose inheritance is uncertain. The objective of this study was to assess the association between consanguinity and preterm birth (PTB), stratified by gestational age and clinical presentation (spontaneous vs. medically indicated). Data were collected on 39,745 singleton livebirths without major birth defects, admitted to 19 hospitals in Lebanon, from September 2003 to December 2007. Deliveries before completed 33 weeks’ gestation and deliveries at 33–36 weeks’ gestation were compared, with respect to cousin marriage, with those after completed 36 weeks’ gestation by using multinomial multiple logistic regression. Overall, infants of consanguineous parents had a statistically significant 1.6-fold net increased risk of being born at less than 33 weeks’ gestation compared with infants of unrelated parents. This association was statistically significant only with spontaneous PTB. There was no increased risk of being born at 33–36 weeks’ gestation associated with consanguinity for both clinical presentations of PTB. Our findings support a genetic contribution to early onset PTB and suggest that early PTB should be targeted in future genetic studies rather than the classic lumping of all births less than 37 weeks’ gestation. PMID:20978088

  6. [Endogenous psychoses and consanguinity (among an isolated population)].

    PubMed

    Mel'chenko, N I

    1990-01-01

    ++Clinico-genealogical and structural-dynamic analyses were made of endogenous psychoses, paranoid in structure under conditions of their accumulation in an isolated population. Study of 3 generations (forefathers, parents, sibs) in 55 families has demonstrated a high level of psychic morbidity among them: schizophrenia (58.1%), epilepsy (24.3%), oligophrenia (8.3%). The combination of schizophrenia and epilepsy was established in 6.3% of cases. It is assumed that the familial forms of psychoses in isolates are inherited by the polygenous autosomal and recessive type. PMID:1965371

  7. Phenotype-Genotype Correlation in Wilson Disease in a Large Lebanese Family: Association of c.2299insC with Hepatic and of p. Ala1003Thr with Neurologic Phenotype

    PubMed Central

    Usta, Julnar; Wehbeh, Antonios; Rida, Khaled; El-Rifai, Omar; Estiphan, Theresa Alicia; Majarian, Tamar; Barada, Kassem

    2014-01-01

    Genotype phenotype correlations in Wilson disease (WD) are best established in homozygous patients or in compound heterozygous patients carrying the same set of mutations. We determined the clinical phenotype of patients with WD carrying the c.2298_2299insC in Exon 8 (c.2299insC) or the p. Ala1003Thr missense substitution in Exon 13 mutations in the homozygous or compound heterozygous state. We investigated 76 members of a single large Lebanese family. Their genotypes were determined, and clinical assessments were carried out for affected subjects. We also performed a literature search retrieving the phenotypes of patients carrying the same mutations of our patients in the homozygous or compound heterozygous state. There were 7 consanguineous marriages in this family and the prevalence of WD was 8.9% and of carriers of ATP7B mutation 44.7%. WD was confirmed in 9 out of 76 subjects. All 9 had the c.2299insC mutation, 5 homozygous and 4-compound heterozygous with p. Ala1003Thr. Six of our patients had hepatic, 2 had neurologic and 1 had asymptomatic phenotype. Based on our data and a literature review, clear phenotypes were reported for 38 patients worldwide carrying the c.2299insC mutation. About 53% of those have hepatic and 29% have neurologic phenotype. Furthermore, there were 10 compound heterozygous patients carrying the p. Ala1003Thr mutation. Among those, 80% having c.2299insC as the second mutation had hepatic phenotype, and all others had neurologic phenotype. We hereby report an association between the c.2299insC mutation and hepatic phenotype and between the p. Ala1003Thr mutation and neurologic phenotype. PMID:25390358

  8. Genetic heterogeneity in psoriasis vulgaris based on linkage analyses of a large family material

    SciTech Connect

    Wahlstroem, J.; Swanbeck, G.; Inerot, A. [ Univ. of Goeteborg (Sweden)] [and others

    1994-09-01

    Information on psoriasis among parents and siblings in 14,008 families has been collected. On the basis of this material, evidence for monogenetic autosomal recessive inheritance of psoriasis has recently been presented. Indications from more than one type of non-pustular psoriasis has been obtained from the population genetic data. Molecular genetic linkage analysis of psoriasis to a number of polymorphic genetic markers for a large number of families has been made. It is apparent that there is genetic heterogeneity in a psoriasis population with regard to psoriasis genes. Using the computer program Linkage 5.0 and a formula for heterogeneity, a lodscore over 3.0 for one locus has been obtained. This locus has further been confirmed by several other markers in the vicinity. The locus found is linked to slightly over half of the families, indicating that there are more genetically independent types of psoriasis. The age at onset of those families that are apparently linked to this locus have a slightly higher age at onset than those not linked to that locus but with a considerable overlap. In spite of close coverage of the whole chromosomes number 6 and 17, no linkage has been found in this regions. This indicates that neither the HLA region nor the region earlier found to be involved in one family with psoriasis are primarily involved in our families.

  9. Large, rapidly evolving gene families are at the forefront of host-parasite interactions in Apicomplexa.

    PubMed

    Reid, Adam J

    2015-02-01

    The Apicomplexa is a phylum of parasitic protozoa, which includes the malaria parasite Plasmodium, amongst other species that can devastate human and animal health. The past decade has seen the release of genome sequences for many of the most important apicomplexan species, providing an excellent basis for improving our understanding of their biology. One of the key features of each genome is a unique set of large, variant gene families. Although closely related species share the same families, even different types of malaria parasite have distinct families. In some species they tend to be found at the ends of chromosomes, which may facilitate aspects of gene expression regulation and generation of sequence diversity. In others they are scattered apparently randomly across chromosomes. For some families there is evidence they are involved in antigenic variation, immune regulation and immune evasion. For others there are no known functions. Even where function is unknown these families are most often predicted to be exposed to the host, contain much sequence diversity and evolve rapidly. Based on these properties it is clear that they are at the forefront of host-parasite interactions. In this review I compare and contrast the genomic context, gene structure, gene expression, protein localization and function of these families across different species. PMID:25257746

  10. The influence of admixture and consanguinity on population genetic diversity in Middle East.

    PubMed

    Yang, Xiong; Al-Bustan, Suzanne; Feng, Qidi; Guo, Wei; Ma, Zhiming; Marafie, Makia; Jacob, Sindhu; Al-Mulla, Fahd; Xu, Shuhua

    2014-11-01

    The Middle East (ME) is an important crossroad where modern humans migrated 'out of Africa' and spread into Europe and Asia. After the initial peopling and long-term isolation leading to well-differentiated populations, the ME also had a crucial role in subsequent human migrations among Africa, Europe and Asia; thus, recent population admixture has been common in the ME. On the other hand, consanguinity, a well-known practice in the ME, often reduces genetic diversity and works in opposition to admixture. Here, we explored the degree to which admixture and consanguinity jointly affected genetic diversity in ME populations. Genome-wide single-nucleotide polymorphism data were generated in two representative ME populations (Arabian and Iranian), with comparisons made with populations worldwide. Our results revealed an overall higher genetic diversity in both ME populations relative to other non-African populations. We identified a much larger number of long runs of homozygosity in ME populations than in any other populations, which was most likely attributed to high levels of consanguineous marriages that significantly decreased both individual and population heterozygosity. Additionally, we were able to distinguish African, European and Asian ancestries in ME populations and quantify the impact of admixture and consanguinity with statistical approaches. Interestingly, genomic regions with significantly excessive ancestry from individual source populations are functionally enriched in olfactory pathways, which were suspected to be under natural selection. Our findings suggest that genetic admixture, consanguinity and natural selection have collectively shaped the genetic diversity of ME populations, which has important implications in both evolutionary studies and medical practices. PMID:25253659

  11. Local differences in the Archbishopric of Santiago de Compostela (Galicia, Spain) in relation to the consanguinity structure, 1900-1979.

    PubMed

    Sánchez-Sellero, C; Fariña, J; Aínsua, R L; Varela, T A

    2001-08-01

    The microgeographic variability of consanguinity in the Archbishopric of Santiago de Compostela (Galicia) between 1900 and 1979 was studied. This Archbishopric covers 106 local councils integrated by 964 parishes, of which 677 (70.23%) were analyzed. Of the 307,094 marriages counted within this period, 15,739 corresponded to weddings between biologically related couples. Within the Archbishopric, eight geographical regions were considered: six coastal regions (Golfo Artabro, Bergantiños, Fisterra, Xallas, Santiago Oeste, and Rías Baixas) and two inland regions (Santiago Este and Terra de Montes). In order to evaluate the differences and similarities among them, the frequencies of all types of marriages (consanguineous and nonconsanguineous) were considered. First, a hierarchical grouping of the regions based on their chi-squared distances was performed. Then, in order to analyze relationships that are exclusively due to the structure of consanguinity, a correspondence analysis was performed and only the frequency of the different types of consanguineous marriages was taken into account. The results from both statistical analyses indicate special features of the Xallas region, both in the level of inbreeding (8.75%, the highest in the Archbishopric) and in the structure of consanguinity, for which a high proportion of uncle-niece marriages was found (6.22% of all consanguineous marriages). In all cases the structure of consanguinity provides informative nuances on the differences and similarities among population groups. PMID:11512681

  12. The CHAP domain: a large family of amidases including GSP amidase and peptidoglycan hydrolases.

    PubMed

    Bateman, Alex; Rawlings, Neil D

    2003-05-01

    Cleavage of peptidoglycan plays an important role in bacterial cell division, cell growth and cell lysis. Here, we reveal that several known peptidoglycan amidases fall into a family, which includes many proteins of previously unknown function. The family includes two different peptidoglycan cleavage activities: L-muramoyl-L-alanine amidase and D-alanyl-glycyl endopeptidase activity. The family includes the amidase portion of the bifunctional glutathionylspermidine synthase/amidase enzyme from bacteria and pathogenic trypanosomes. The glutathionylspermidine synthase is thought to be a key component of the alternative pathway in trypanosomes for protection from oxygen-radical damage and has been proposed as a potential drug target. The CHAP (cysteine, histidine-dependent amidohydrolases/peptidases) domain is often found in association with other domains that cleave peptidoglycan. The large number of multifunctional hydrolases suggests that they might act in a cooperative manner to cleave specialized substrates. PMID:12765834

  13. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1

    SciTech Connect

    Edwards, M.J.; Roberts, J.; Partington, M.W. [Newcastle and Northern New South Wales Genetics Service (Australia); Colley, P.W. [John Hunter Hospital, Newcastle (Australia); Hollway, G.E.; Kozman, H.M.; Mulley, J.C. [Adelaide Children`s Hospital, North Adelaide (Australia)

    1994-10-15

    Simple ectopia lentis (EL) was studied in a large family, by clinical examination and analysis of linkage to markers in the region of FBN1, the gene for fibrillin which causes Marfan syndrome on chromosome 15. No patient had clinical or echocardiographic evidence of Marfan syndrome, although there was a trend towards relatively longer measurements of height; lower segment; arm span; middle finger, hand, and foot length in the affected members of the family, compared with unaffected sibs of the same sex. Analysis of linkage to intragenic FBN1 markers was inconclusive because they were relatively uninformative. Construction of a multipoint background map from the CEPH reference families identified microsatellite markers linked closely to FBN1 which could demonstrate linkage of EL in this family to the FBN1 region. LINKMAP analysis detected a multipoint lod score of 5.68 at D15S119, a marker approximately 6 cM distal to FBN1, and a multipoint lod score of 5.04 at FBN1. The EL gene in this family is likely to be allelic to Marfan syndrome, and molecular characterization of the FBN1 mutation should now be possible. 25 refs., 6 figs., 2 tabs.

  14. Consanguineous Marital Union Resulting in a Progeny of Whistling-face Syndrome and Hemophilia: A Case Report

    PubMed Central

    Gurjar, Vivek; Gurjar, Minal

    2015-01-01

    Many different types of genetic disorders are noted to be prevalent among consanguineous progeny. Although the most common type of consanguineous union in all major societies is between first cousins, the importance of customary influences is apparent from variations in the specific types of first-cousin marriages contracted. Epidemiological data for the prevalence of whistling-face syndrome (WFS) are not available, but less than a hundred cases reported in the literature are noted. We are presenting a case where a consanguineous marriage resulted in two of their children presenting with WFS and one with hemophilia. PMID:25954077

  15. Institutional protocol to manage consanguinity detected by genetic testing in pregnancy in a minor.

    PubMed

    Chen, Laura P; Beck, Anita E; Tsuchiya, Karen D; Chow, Penny M; Mirzaa, Ghayda M; Wiester, Rebecca T; Feldman, Kenneth W

    2015-03-01

    Single-nucleotide polymorphism arrays and other types of genetic tests have the potential to detect first-degree consanguinity and uncover parental rape in cases of minor teenage pregnancy. We present 2 cases in which genetic testing identified parental rape of a minor teenager. In case 1, single-nucleotide polymorphism array in a patient with multiple developmental abnormalities demonstrated multiple long stretches of homozygosity, revealing parental rape of a teenage mother. In case 2, a vague maternal sexual assault history and diagnosis of Pompe disease by direct gene sequencing identified parental rape of a minor. Given the medical, legal, and ethical implications of such revelations, a protocol was developed at our institution to manage consanguinity identified via genetic testing. PMID:25687148

  16. A study of consanguineous marriage as a risk factor for developing comitant strabismus.

    PubMed

    Bagheri, Mansooreh; Farvardin, Majid; Saadat, Mostafa

    2015-04-01

    Inheritance has an important role in the etiology of comitant strabismus. Consanguineous marriage is a leading factor in birth defects in which inheritance has a role. The aim of this study is to reveal if consanguineous marriage increases the risk of developing comitant strabismus. We included 461 patients who underwent primary surgery for comitant strabismus in Shiraz University Khalili Hospital (Fars province, southern Iran) between years 2003 and 2013 in our study. All the patients were living in Shiraz, Iran. Patients were categorized into the following 4 groups: (1) intermittent or constant exotropia, (2) infantile esotropia, (3) non-accommodative acquired esotropia, and (4) accommodative acquired esotropia. A total of 421 healthy children who were born in Shiraz, at the same period of time, were also studied as a control group. Presence and type of the consanguineous marriages were evaluated in the parents of the patients and control group by a questionnaire. Mean of inbreeding coefficient (?) was calculated in each group of patients and was compared with those of control group. The proportion of parental first cousin marriage was 37.7 and 23.5 % among patient and control groups. The mean of inbreeding coefficients (?) were 0.0236, 0.0283, 0.0288, and 0.0236 in four groups of the patients, respectively. The mean of inbreeding coefficient was 0.0263 in total patients, which was significantly higher than 0.0164 of control group (T?=?5.27, df?=?880, P?consanguineous couples. PMID:25644872

  17. Some further observations on parental consanguineous marriages of anencephaly in Japan

    Microsoft Academic Search

    Yoko Imaizumi

    1977-01-01

    Summary Parental consanguineous marriages for the 482 index patients with anencephaly were examined from thekoseki. The rate of first cousin marriages among the parents of anencephalic patients is 1.87%. The rates are 1.5% in urban and 3.8% in rural areas. The difference between the rates of first cousin marriages among parents of anencephalic patients and among the general population is

  18. Clinical expression of developmental coordination disorder in a large Canadian family.

    PubMed

    Gaines, Robin; Collins, David; Boycott, Kym; Missiuna, Cheryl; Delaat, Denise; Soucie, Helen

    2008-11-01

    Previous studies of the phenotype of developmental coordination disorder (DCD) have largely concentrated on population-based samples. The present study reports on an in-depth examination of a large Canadian family with eight children, after three children who were suspected to have DCD were referred for evaluation. Subsequently, five of the six children whose motor impairments could be measured, and the mother, met the diagnostic criteria for DCD as per the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders - fourth edition. The family members diagnosed with DCD showed remarkably similar profiles of motor difficulties. Additionally, the five children diagnosed with DCD had current speech articulation difficulties, with four of them having visited speech/language pathologists; the mother had a lateral lisp. More in-depth testing for three children revealed intact intellectual, academic and language comprehension skills. Three of the children diagnosed with DCD were obese. The present report highlights familial clustering of DCD and the presence of comorbid conditions in the affected children. PMID:19436536

  19. Towards identification of an epilepsy gene in a large family with idiopathic generalized epilepsy

    SciTech Connect

    Roussear, M.; Lopes-Cendes, I. [Montreal General Hospital, Quebec (Canada); Berkovic, S.F. [Austin Hospital, Melbourne (Australia)] [and others

    1994-09-01

    To identify the disease gene in a large, multiplex family segregating an autosomal dominant form of idiopathic generalized epilepsy (IGE). The IGEs have been recognized for several decades as being genetically determined. However, large pedigrees with a clear Mendelian inheritance are not commonly available. This, and the presence of locus heterogeneity have been obstacles to the identification of linkage in several IGE syndromes. We have identified a large IGE kindred with fifty-eight living individuals, including 26 affecteds, showing a clear autosomal dominant inheritance with incomplete penetrance. Forty-fur informative individuals, including 23 affecteds, were selected for the linkage studies. We have chosen 200 polymorphic microsatellite markers, about 20 cM apart, throughout the human autosomes as a genome-search linkage strategy. To date, 47 markers, representing 30% of the human genome, have been excluded for linkage in the Australian kindred. As our study progresses, we will report up-to-date results.

  20. Moxidectin and the avermectins: Consanguinity but not identity

    PubMed Central

    Prichard, Roger; Ménez, Cécile; Lespine, Anne

    2012-01-01

    The avermectins and milbemycins contain a common macrocyclic lactone (ML) ring, but are fermentation products of different organisms. The principal structural difference is that avermectins have sugar groups at C13 of the macrocyclic ring, whereas the milbemycins are protonated at C13. Moxidectin (MOX), belonging to the milbemycin family, has other differences, including a methoxime at C23. The avermectins and MOX have broad-spectrum activity against nematodes and arthropods. They have similar but not identical, spectral ranges of activity and some avermectins and MOX have diverse formulations for great user flexibility. The longer half-life of MOX and its safety profile, allow MOX to be used in long-acting formulations. Some important differences between MOX and avermectins in interaction with various invertebrate ligand-gated ion channels are known and could be the basis of different efficacy and safety profiles. Modelling of IVM interaction with glutamate-gated ion channels suggest different interactions will occur with MOX. Similarly, profound differences between MOX and the avermectins are seen in interactions with ABC transporters in mammals and nematodes. These differences are important for pharmacokinetics, toxicity in animals with defective transporter expression, and probable mechanisms of resistance. Resistance to the avermectins has become widespread in parasites of some hosts and MOX resistance also exists and is increasing. There is some degree of cross-resistance between the avermectins and MOX, but avermectin resistance and MOX resistance are not identical. In many cases when resistance to avermectins is noticed, MOX produces a higher efficacy and quite often is fully effective at recommended dose rates. These similarities and differences should be appreciated for optimal decisions about parasite control, delaying, managing or reversing resistances, and also for appropriate anthelmintic combination. PMID:24533275

  1. Mutations of HNRNPA0 and WIF1 predispose members of a large family to multiple cancers.

    PubMed

    Wei, Chongjuan; Peng, Bo; Han, Younghun; Chen, Wei V; Rother, Joshua; Tomlinson, Gail E; Boland, C Richard; Chaussabel, Marc; Frazier, Marsha L; Amos, Christopher I

    2015-06-01

    We studied a large family that presented a strong familial susceptibility to multiple early onset cancers including prostate, breast, colon, and several other uncommon cancers. Through targeted gene, linkage, and whole genome sequencing analyses, we show that the presence of a variant in the regulatory region of HNRNPA0 associated with elevated cancer incidence in this family (Hazard ratio = 7.20, p = 0.0004). Whole genome sequencing identified a second rare protein changing mutation of WIF1 that interacted with the HNRNPA0 variant resulting in extremely high risk for cancer in carriers of mutations in both genes (p = 1.98 × 10(-13)). Analysis of downstream targets of the mutations in these two genes showed that the HNRNPA0 mutation affected expression patterns in the PI3 kinase and ERK/MAPK signaling pathways, while the WIF1 variant influenced expression of genes that play a role in NAD biosynthesis. This is a first report of variation in HNRNPA0 influencing common cancers or of a striking interaction between rare variants coexisting in an extended pedigree and jointly affecting cancer risk. PMID:25716654

  2. Evolutionary mechanisms driving the evolution of a large polydnavirus gene family coding for protein tyrosine phosphatases

    PubMed Central

    2012-01-01

    Background Gene duplications have been proposed to be the main mechanism involved in genome evolution and in acquisition of new functions. Polydnaviruses (PDVs), symbiotic viruses associated with parasitoid wasps, are ideal model systems to study mechanisms of gene duplications given that PDV genomes consist of virulence genes organized into multigene families. In these systems the viral genome is integrated in a wasp chromosome as a provirus and virus particles containing circular double-stranded DNA are injected into the parasitoids’ hosts and are essential for parasitism success. The viral virulence factors, organized in gene families, are required collectively to induce host immune suppression and developmental arrest. The gene family which encodes protein tyrosine phosphatases (PTPs) has undergone spectacular expansion in several PDV genomes with up to 42 genes. Results Here, we present strong indications that PTP gene family expansion occurred via classical mechanisms: by duplication of large segments of the chromosomally integrated form of the virus sequences (segmental duplication), by tandem duplications within this form and by dispersed duplications. We also propose a novel duplication mechanism specific to PDVs that involves viral circle reintegration into the wasp genome. The PTP copies produced were shown to undergo conservative evolution along with episodes of adaptive evolution. In particular recently produced copies have undergone positive selection in sites most likely involved in defining substrate selectivity. Conclusion The results provide evidence about the dynamic nature of polydnavirus proviral genomes. Classical and PDV-specific duplication mechanisms have been involved in the production of new gene copies. Selection pressures associated with antagonistic interactions with parasitized hosts have shaped these genes used to manipulate lepidopteran physiology with evidence for positive selection involved in adaptation to host targets. PMID:23270369

  3. Analysis of Arabidopsis genome sequence reveals a large new gene family in plants.

    PubMed

    Ride, J P; Davies, E M; Franklin, F C; Marshall, D F

    1999-03-01

    A detailed analysis of the currently available Arabidopsis thaliana genomic sequence has revealed the presence of a large number of open reading frames with homology to the stigmatic self-incompatibility (S) genes of Papaver rhoeas. The products of these potential genes are all predicted to be relatively small, basic, secreted proteins with similar predicted secondary structures. We have named these potential genes SPH (S-protein homologues). Their presence appears to have been largely missed by the prediction methods currently used on the genomic sequence. Equivalent homologues could not be detected in the human, microbial, Drosophila or C. elegans genomic databases, suggesting a function specific to plants. Preliminary RT-PCR analysis indicates that at least two members of the family (SPH1, SPH8) are expressed, with expression being greatest in floral tissues. The gene family may total more than 100 members, and its discovery not only illustrates the importance of the genome sequencing efforts, but also indicates the extent of information which remains hidden after the initial trawl for potential genes. PMID:10344198

  4. A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2)

    Microsoft Academic Search

    N J Lench; A F Markham; R F Mueller; D P Kelsell; R J Smith; P J Willems; I Schatteman; H Capon; P J Van De Heyning; G Van Camp

    1998-01-01

    We report a mutation in the connexin 26 gene (Cx26) in a consanguineous Moroccan family linked to the DFNA3\\/DFNB1 locus on human chromosome 13q11-q12. Affected subjects display congenital, bilateral, sensorineural hearing loss. We have previously identified Cx26 mutations in consanguineous Pakistani families. This current finding indicates that Cx26 mutations are not restricted to ethnically and geographically distinct populations. This is

  5. Multicentric Castleman Disease in an HHV8-Infected Child Born to Consanguineous Parents With Systematic Review

    PubMed Central

    Moshous, Despina; Cassar, Olivier; Reguerre, Yves; Byun, Minji; Pedergnana, Vincent; Canioni, Danielle; Gessain, Antoine; Oksenhendler, Eric; Fieschi, Claire; Mahlaoui, Nizar; Rivière, Jean-Pierre; Herbigneaux, Rose-Marie; Muszlak, Matthias; Arnaud, Jean-Pierre; Fischer, Alain; Picard, Capucine; Blanche, Stéphane; Plancoulaine, Sabine

    2012-01-01

    Childhood multicentric Castleman disease (MCD) is a rare and unexplained lymphoproliferative disorder. We report a human herpesvirus-8 (HHV-8)-infected child, born to consanguineous Comorian parents, who displayed isolated MCD in the absence of any known immunodeficiency. We also systematically review the clinical features of the 32 children previously reported with isolated and unexplained MCD. The characteristics of this patient and the geographic areas of origin of most previous cases suggest that pediatric MCD is associated with HHV-8 infection. Moreover, as previously suggested for Kaposi sarcoma, MCD in childhood may result from inborn errors of immunity to HHV-8 infection. PMID:22157133

  6. Coexistence of abnormalities of hepatic lipase and lipoprotein lipase in a large family.

    PubMed Central

    Auwerx, J H; Babirak, S P; Hokanson, J E; Stahnke, G; Will, H; Deeb, S S; Brunzell, J D

    1990-01-01

    A large family is reported with familial hepatic triglyceride lipase (HTGL) deficiency and with the coexistence of reduced lipoprotein lipase (LPL) similar to the heterozygote state of LPL deficiency. The proband was initially detected because of hypertriglyceridemia and chylomicronemia. He was later demonstrated to have beta-VLDL despite an apo E3/E3 phenotype and the lack of stigmata of type III hyperlipoproteinemia. The proband had no HTGL activity in postheparin plasma. Two of his half-sisters had very low HTGL activity (39 and 31 nmol free fatty acids/min/ml; normal adult female greater than 44). His son and daughters had decreased HTGL activity (normal male and preadolescent female greater than 102), which would be expected in obligate heterozygotes for HTGL deficiency. Low HTGL activity was associated with LDL particles which were larger and more buoyant. Several family members, including the proband, had reduced LPL activity and mass less than that circumscribed by the 95% confidence-interval ellipse for normal subjects and had hyperlipidemia similar to that described in heterozygote relatives of patients with LPL deficiency. All the sibs with hyperlipidemia had a reduced LPL activity and mass, while subjects with isolated reduced HTGL (with normal LPL activity) had normal lipid phenotypes. Analysis of genomic DNA from these subjects by restriction-enzyme digestion revealed no major abnormalities in the structure of either the HTGL or the LPL gene. Compound heterozygotes for HTGL and LPL deficiency show lipoprotein physiological characteristics typical for HTGL deficiency, while their variable lipid phenotype is typical for LPL deficiency. Images Figure 2 Figure 4 PMID:1968704

  7. Genetic and environmental factors affecting bone mineral density in large families.

    PubMed Central

    Yeap, S. S.; Beaumont, M.; Bennett, A.; Keating, N. A.; White, D. A.; Hosking, D. J.

    1998-01-01

    This study assessed whether relatives with low bone mineral density (BMD) could be identified in five large families using historical, biochemical, and genetic markers for osteoporosis. Fifty of 65 relatives had their bone density and bone turnover markers measured, together with an assessment of their risk factors for osteoporosis. Only 33% (5/15) of siblings, 50% (6/12) of children and 43% (10/23) of nephews and nieces had entirely normal BMD. There was no difference in life-style risk factors for osteoporosis, history of previous fractures or body mass index between normal subjects and those with osteopenia or osteoporosis. Osteopenic individuals had a significantly higher than normal osteocalcin value. Within families, there was no clear association between BMD and any of the genetic markers (vitamin D receptor gene polymorphisms, COL 1A1 and COL 1A2 polymorphisms of the collagen gene), either alone or in combination. The addition of genetic markers to the other risk factors for low BMD did not improve the prediction of BMD. In conclusion, we suggest that the presence of osteoporosis in a first degree relative should be one of the clinical indications for bone density measurement as the individuals at risk would not be picked up by other methods. PMID:9799889

  8. [The economic-financial sustainability of the Family Health Strategy in large municipalities].

    PubMed

    Portela, Gustavo Zoio; Ribeiro, José Mendes

    2011-03-01

    The universalization of basic care and commitment budget of the Ministry of Health with the Family Health Strategy (ESF) through new systematic financing incentives have been highlighted in the Brazilian health policy scenario. One of the great problems observed is the expansion of the strategy for large urban centres. This paper studies the economic-financial sustainability of ESF in Brazilian municipalities of more than 100 thousand inhabitants according to some selected indicators, considering the geographical region to which they belong, their population size and participation in Project for the Expansion and Consolidation Family Health (Proesf). Municipalities belonging to the Southeast region, more developed of the country, have on average better economic-financial performance, but lower average values of coverage of ESF. Municipalities from the North and Northeast, with the lowest average for economic-financial sustainability indicators, were the ones that made more effort to developments in the period. Thus, we observed the dynamics between bigger fiscal capacity and budgetary commitment with the Health Sector for biggest municipalities and in more economically developed regions, and greater vulnerability and dependence of federative transferences for municipalities with less people, in less developed areas. PMID:21519663

  9. Large scale in silico identification of MYB family genes from wheat expressed sequence tags.

    PubMed

    Cai, Hongsheng; Tian, Shan; Dong, Hansong

    2012-10-01

    The MYB proteins constitute one of the largest transcription factor families in plants. Much research has been performed to determine their structures, functions, and evolution, especially in the model plants, Arabidopsis, and rice. However, this transcription factor family has been much less studied in wheat (Triticum aestivum), for which no genome sequence is yet available. Despite this, expressed sequence tags are an important resource that permits opportunities for large scale gene identification. In this study, a total of 218 sequences from wheat were identified and confirmed to be putative MYB proteins, including 1RMYB, R2R3-type MYB, 3RMYB, and 4RMYB types. A total of 36 R2R3-type MYB genes with complete open reading frames were obtained. The putative orthologs were assigned in rice and Arabidopsis based on the phylogenetic tree. Tissue-specific expression pattern analyses confirmed the predicted orthologs, and this meant that gene information could be inferred from the Arabidopsis genes. Moreover, the motifs flanking the MYB domain were analyzed using the MEME web server. The distribution of motifs among wheat MYB proteins was investigated and this facilitated subfamily classification. PMID:22187170

  10. Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic, and molecular data

    SciTech Connect

    Hamel, B.C.J.; Smits, A.P.T.; Smeets, F.C.M.; Schoute, F.; Assman-Hulsmans, C.F.C.H. [Univ. Hospital, Nijmegen (Netherlands); Graaff, E. de; Eussen, B.H.J.; Oostra, B.A. [Erasmus Univ., Rotterdam (Netherlands); Knight, S.J.L. [John Radcliffe Hospital, Headington, Oxford (Canada)

    1994-11-01

    During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 and 70-82, respectively. Cytogenetically the fragile site was always present in affected males and was not always present in affected females. With FISH the fragile site was located within the FRAXE region. The expanded GCC repeat of FRAXE was seen in affected males and females either as a discrete band or as a broad smear. No expansion was seen in unaffected males, whereas three unaffected females did have an enlarged GCC repeat. Maternal transmission of FRAXE may lead to expansion or contraction of the GCC repeat length, whereas in all cases of paternal transmission contraction was seen. In striking contrast to the situation in fragile X syndrome, affected males may have affected daughters. In addition, there appears to be no premutation of the FRAXE GCC repeat, since in the family studied here all males lacking the normal allele were found to be affected. 41 refs., 4 figs., 5 tabs.

  11. THE EVALUATION OF THREE TEACHING STRATEGIES FOR A LARGE UNDERGRADUATE COURSE IN HUMAN DEVELOPMENT AND FAMILY STUDIES

    Microsoft Academic Search

    Megan M. McClelland; Lizbeth Gray

    Research suggests that effective teaching includes actively engaging students and connecting concepts and research to application. This is often difficult to do in large undergraduate courses of over 100 students. The present study evaluated three teaching strategies adapted for a large undergraduate course in a Human Development and Family Studies program. Using data collected over four years in an adolescence

  12. Association between healthy life expectancy at birth and consanguineous marriages in 63 countries.

    PubMed

    Saadat, Mostafa

    2011-07-01

    In order to investigate the association between mean inbreeding coefficient (?) and healthy life expectancy at birth (HALE; years) the present ecological study on 63 countries was done. Statistical analysis showed that HALE negatively and positively correlated with log(10)? and log(10)GNI per capita, respectively (p<0.001). It should be noted that log(10)? and log(10)GNI per capita were significantly correlated with each other (p<0.001). After controlling for log(10)GNI per capita, significant negative correlations between log(10)? and HALE were observed. The countries were stratified according to their GNI per capita into low- and high-income countries. In countries with high income, after controlling for log(10)GNI per capita, the correlation between HALE at birth and log(10)? was significant (for males r=-0.399, df=32, p=0.001; for females r=-0.683, df=32, p<0.001). In high-income Asian and African countries, where consanguineous marriage is common, after controlling for log(10)GNI per capita, the correlation between HALE at birth and log(10)? was significant (for males r=-0.819, df=8, p=0.004; for females r=-0.936, df=8, p<0.001). It seems that consanguinity influences HALE independent of country income. PMID:21306664

  13. Screening for large genomic rearrangements of the BRIP1 and CHK1 genes in Finnish breast cancer families

    Microsoft Academic Search

    Szilvia Solyom; Katri Pylkäs; Robert Winqvist

    2010-01-01

    In search for susceptibility genes that could explain an additional portion of familial breast cancer clustering in Finland,\\u000a we set out to evaluate the presence of large genomic rearrangements in two candidate genes, BRIP1 and CHK1. BRIP1 is a BRCA1 associated protein that is mutated in a fraction of familial breast cancer and Fanconi anemia cases. To\\u000a date, the role

  14. Between Acculturation and Ambivalence: Knowledge of Genetics and Attitudes towards Genetic Testing in a Consanguineous Bedouin Community

    Microsoft Academic Search

    Aviad E. Raz; Marcela Atar; Maya Rodnay; Ilana Shoham-Vardi; Rivka Carmi

    2003-01-01

    The Bedouins of the Negev (Southern part of Israel) are a community at increased risk for genetic diseases and congenital anomalies as a result of frequent consanguinity (particularly patrilateral parallel-cousin marriage) and underutilization of prenatal genetic tests due to a Muslim ban on abortion. Objective: To assess the knowledge and attitudes of Bedouin schoolchildren and their teachers towards a community-based,

  15. Only a Touch of the Flu? The Simultaneous Manifestation of Acute Necrotizing Encephalopathy in Two Consanguineous Patients

    PubMed Central

    Bloch, C.; Suter, B.; Fischmann, A.; Gensicke, H.; Rüegg, S.; Weisser, M.

    2015-01-01

    This case report describes the simultaneous manifestation of acute necrotizing encephalopathy in 2 consanguineous patients after infection with influenza B based on the autosomal dominant missense mutation of the RANBP2-gene. Differential diagnosis of acute encephalopathy, clinical and radiological clues, and treatment strategies are outlined.

  16. RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.

    PubMed

    Alessandri, Jean-Luc; Dagoneau, Nathalie; Laville, Jean-Marc; Baruteau, Julien; Hébert, Jean-Christophe; Cormier-Daire, Valérie

    2010-04-01

    We report here on a RAB23 mutation (c.86dupA) present in the homozygote state in four relatives of Comorian origin with Carpenter syndrome. All children presented with acrocephaly and polysyndactyly. However, intrafamilial variability was observed with variable severity of craniosynostosis ranging from cloverleaf skull to predominant involvement of the metopic ridge. All children also presented with a combination of brachydactyly with agenesis of the middle phalanges, syndactyly, broad thumbs, and postaxial polydactyly (2/4) in the hands, and preaxial polydactyly (3) and syndactyly (4) in the toes. Mental development was normal in all four children but the eldest one presented with impaired motor development as a result of orthopedic complications. Brain imaging showed hydrocephalus in 2/4 and additional features included genu valgum (2/4), abnormal genitalia (3/4), corneal anomaly (2/4), umbilical hernia (1/4), severe cyphoscoliosis (1), patent ductus arteriosus (1/4), and accessory spleen (1). In contrast to previous reports, growth was below average except for one patient and the eldest one became moderately overweight with time. We conclude from the report of this large unique family with four affected children that Carpenter syndrome is a genetically homogenous but a clinically variable condition. PMID:20358613

  17. Patient perception and knowledge of acetaminophen in a large family medicine service.

    PubMed

    Herndon, Christopher M; Dankenbring, Dawn M

    2014-06-01

    The use of acetaminophen is currently under increased scrutiny by the US Food and Drug Administration (FDA) due to the risk of intentional and more concerning, unintentional overdose-related hepatotoxicity. Acetaminophen is responsible for an estimated 48% of all acute liver failure diagnoses. The purpose of this study is to evaluate patient perception and knowledge of the safe use and potential toxicity of acetaminophen-containing products. The authors conducted a descriptive, 2-week study using a convenience sample from a large family medicine clinic waiting room. Survey questions assessed ability to identify acetaminophen, knowledge of the current recommended maximum daily dose, respondent acetaminophen use patterns, common adverse effects associated with acetaminophen, and respondent self-reported alcohol consumption. Acetaminophen safety information was provided to all persons regardless of participation in the study. Of the 102 patients who chose to participate, 79% recognized acetaminophen as a synonym of Tylenol, whereas only 9% identified APAP as a frequently used abbreviation. One third of respondents thought acetaminophen was synonymous with ibuprofen and naproxen. Approximately one fourth of patients correctly identified the then maximum recommended daily acetaminophen dose of 4 g. Seventy-eight percent of patients correctly identified hepatotoxicity as the most common serious adverse effect. We conclude that patient deficiencies in knowledge of acetaminophen recognition, dosing, and toxicity warrant public education by health professionals at all levels of interaction. Current initiatives are promising; however, further efforts are required. PMID:24813653

  18. Large, rapidly evolving intergenic spacers in the mitochondrial DNA of the salamander family Ambystomatidae (Amphibia: Caudata).

    PubMed

    McKnight, M L; Shaffer, H B

    1997-11-01

    We report the presence, in the mitochondrial DNA (mtDNA) of all of the sexual species of the salamander family Ambystomatidae, of a shared 240-bp intergenic spacer between tRNAThr and tRNAPro. We place the intergenic spacer in context by presenting the sequence of 1,746 bp of mtDNA from Ambystoma tigrinum tigrinum, describe the nucleotide composition of the intergenic spacer in all of the species of Ambystomatidae, and compare it to other coding and noncoding regions of Ambystoma and several other vertebrate mtDNAs. The nucleotide substitution rate of the intergenic spacer is approximately three times faster than the substitution rate of the control region, as shown by comparisons among six Ambystoma macrodactylum sequences and eight members of the Ambystoma tigrinum complex. We also found additional inserts within the intergenic spacers of five species that varied from 87-444 bp in length. The presence of the intergenic spacer in all sexual species of Ambystomatidae suggests that it arose at least 20 MYA and has been a stable component of the ambystomatid mtDNA ever since. As such, it represents one of the few examples of a large and persistent intergenic spacer in the mtDNA of any vertebrate clade. PMID:9364774

  19. The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome

    Microsoft Academic Search

    Susan Stuckless; Patrick S. Parfrey; Michael O. Woods; Janet Cox; G. William Fitzgerald; Jane S. Green; Roger C. Green

    2007-01-01

    To compare the phenotypic expression of three different MSH2 mutations causing Lynch syndrome, 290 family members at 50% risk of inheriting a mutation were studied. Two truncating mutations\\u000a of the MSH2 gene have been identified in Newfoundland: an exon 8 deletion in five families (N=74 carriers) and an exon 4–16 deletion in one family (N=65 carriers). The third mutation was

  20. A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family.

    PubMed

    Shalev, Stavit A; Spiegel, Ronen; Hall, Judith G

    2005-10-15

    A large Moslem Arabic family from the North of Israel is presented in which nine individuals are affected with short stature (5th centile and below), variable pterygium of neck or short neck with limited range of motion, pterygium of elbows, short palms, and brachydactyly. Other abnormalities of the fingers include syndactyly, camptodactyly, and/or hypermobility of the small joints. The face typically appeared long and myopathic. Ptosis was present with downslanting palpebral fissures, facial movements were reduced and the midface was flat. Umbilical hernia was present together with hypoplasia of the skin in the periumbilical area. The lower body region was unaffected in this family. The family is characterized by multiple consanguineous marriages, and the pedigree is consistent with autosomal recessive inheritance. The phenotype seems to be distinct from other multiple pterygium syndromes because the lower limbs are spared, and the umbilical hernia with hypoplastic skin has not been described previously. PMID:16158430

  1. Large-Cell Calcifying Sertoli Cell Tumour of the Testis Detected at Screening of a Family with Carney Syndrome

    Microsoft Academic Search

    S. N. Jayasena; J. T. N. Ariyasinghe; D. M. R. Gunawardena; S. A. S. Gunawardena; M. V. C. de Silva

    2005-01-01

    We report the detection of a large-cell calcifying Sertoli cell tumour (LCCSCT) in a 34-year-old male during screening of a family with Carney syndrome. The patient had ignored the testicular swelling for 7 years. He also had a cardiac myxoma. The LCCSCT in this patient had prognostically unfavourable features such as large size (>6 cm) and a high mitotic rate.

  2. Family Activity Guide Family Activity Guide prepared by National Geographic and Destination Cinema, Inc., for the large-format

    E-print Network

    Mathis, Wayne N.

    .nationalgeographic.com/lewisandclark The Lewis and Clark Expedition was long and difficult. The group had to overcome many obstacles. They braved, Inc., for the large-format film Lewis & Clark: Great Journey West; and funded in part by the National Lewis to lead an important expedition. His assignment: Find an all-water route to the Pacific Ocean

  3. ORIGINAL ARTICLE Familial steroid-sensitive nephrotic syndrome

    E-print Network

    Friedman, Nir

    ORIGINAL ARTICLE Familial steroid-sensitive nephrotic syndrome in Southern Israel: clinical January 2007 # IPNA 2007 Abstract Reports on genetically informative steroid-re- sponsive (sensitive with a high rate of consanguinity. The clinical presentation and steroid response of its 11 affected

  4. Genealogy, natural history, and phenotype of Alstrom syndrome in a large Acadian kindred and three additional families

    Microsoft Academic Search

    Jan D. Marshall; Mark D. Ludman; Sarah E. Shea; Sonia R. Salisbury; Steven M. Willi; Robert G. LaRoche; Patsy M. Nishina

    1997-01-01

    We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of 4 to 26 at the time of clinical assessment. The affected subjects come from 5 nuclear families within this kindred. The phenotype includes early childhood retinopathy, progressive sensorineural hearing loss, truncal obesity, and acanthosis nigricans. In addition, hyperinsulinemia and hypertriglyceridemia with normal cholesterol

  5. By: Leif Karlsson, ESAB AB, Gothenburg. The large and steadily growing family of stainless steels can offer unique combina-

    E-print Network

    Cambridge, University of

    temperature toughness, creep strength and formability. Although small in tonnage compared to mild steelsBy: Leif Karlsson, ESAB AB, Gothenburg. The large and steadily growing family of stainless steels can offer unique combina- tions of corrosion resistance and properties such as high strength, low

  6. Structural, Functional, and Evolutionary Analysis of the Unusually Large Stilbene Synthase Gene Family in Grapevine1[W

    PubMed Central

    Parage, Claire; Tavares, Raquel; Réty, Stéphane; Baltenweck-Guyot, Raymonde; Poutaraud, Anne; Renault, Lauriane; Heintz, Dimitri; Lugan, Raphaël; Marais, Gabriel A.B.; Aubourg, Sébastien; Hugueney, Philippe

    2012-01-01

    Stilbenes are a small family of phenylpropanoids produced in a number of unrelated plant species, including grapevine (Vitis vinifera). In addition to their participation in defense mechanisms in plants, stilbenes, such as resveratrol, display important pharmacological properties and are postulated to be involved in the health benefits associated with a moderate consumption of red wine. Stilbene synthases (STSs), which catalyze the biosynthesis of the stilbene backbone, seem to have evolved from chalcone synthases (CHSs) several times independently in stilbene-producing plants. STS genes usually form small families of two to five closely related paralogs. By contrast, the sequence of grapevine reference genome (cv PN40024) has revealed an unusually large STS gene family. Here, we combine molecular evolution and structural and functional analyses to investigate further the high number of STS genes in grapevine. Our reannotation of the STS and CHS gene families yielded 48 STS genes, including at least 32 potentially functional ones. Functional characterization of nine genes representing most of the STS gene family diversity clearly indicated that these genes do encode for proteins with STS activity. Evolutionary analysis of the STS gene family revealed that both STS and CHS evolution are dominated by purifying selection, with no evidence for strong selection for new functions among STS genes. However, we found a few sites under different selection pressures in CHS and STS sequences, whose potential functional consequences are discussed using a structural model of a typical STS from grapevine that we developed. PMID:22961129

  7. Screening for large genomic rearrangements of the BRIP1 and CHK1 genes in Finnish breast cancer families.

    PubMed

    Solyom, Szilvia; Pylkäs, Katri; Winqvist, Robert

    2010-12-01

    In search for susceptibility genes that could explain an additional portion of familial breast cancer clustering in Finland, we set out to evaluate the presence of large genomic rearrangements in two candidate genes, BRIP1 and CHK1. BRIP1 is a BRCA1 associated protein that is mutated in a fraction of familial breast cancer and Fanconi anemia cases. To date, the role of large BRIP1 deletions in breast cancer susceptibility is not well-characterized. CHK1 is a critical maintainer of cell cycle checkpoints and genomic stability, and is also involved in the BRCA1 and FA protein signalling pathways. Although CHK1 is a very important protein for cell cycle and DNA integrity maintenance control, no mutations in this gene has yet been associated with predisposition to cancer. For the present study, blood DNA from affected index persons of 111 Northern Finnish breast cancer families was assessed for possible constitutional exonic deletions or amplifications in the BRIP1 and CHK1 genes by using the multiplex ligation-dependent probe amplification method. Our results showed that exonic deletions or amplifications affecting the BRIP1 and CHK1 genes seem not to contribute to hereditary breast cancer susceptibility in the Finnish population. To our knowledge, this is the first attempt to determine the existence of large CHK1 deletions in familial breast cancer or in any disease with a hereditary background. PMID:20567916

  8. dForm Sequences: Families of Sequences with Low Correlation Values and Large Linear Spans

    E-print Network

    Klapper, Andy

    channels. Among proposed methods for such sharing, Code Division Multiple Access holds great promise, as in the case of \\Gamma1 decimations of m­sequences [18]. In a few cases families of sequences with good

  9. d-Form Sequences: Families of Sequences with Low Correlation Values and Large Linear Span

    E-print Network

    Klapper, Andy

    methods for such sharing, Code Division Multiple Access holds great promise, in part due to its ability decimations of m-sequences [18]. In a few cases families of sequences with good correlation properties have

  10. New Family of p-ary Sequences With Optimal Correlation Property and Large Linear Span

    Microsoft Academic Search

    Ji-woong Jang; Young-sik Kim; Jong-seon No; Tor Helleseth

    2004-01-01

    For an odd prime p and integers n, m, and k such that n=(2m+1)k, a new family of p-ary sequences of period pn-1 with optimal correlation property is constructed using the p-ary Helleseth-Gong sequences with ideal autocorrelation, where the size of the sequence family is pn. That is, the maximum nontrivial correlation value Rmax of all pairs of distinct sequences

  11. Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma.

    PubMed

    Vanecek, Tomas; Halbhuber, Zbynek; Kacerovska, Denisa; Martinek, Petr; Sedivcova, Monika; Carr, Richard A; Slouka, David; Michal, Michal; Kazakov, Dmitry V

    2014-11-01

    Brooke-Spiegler syndrome (BSS) and its phenotypic variants, multiple familial trichoepithelioma (MFT) and familial cylindromatosis, are rare autosomal dominant hereditary diseases. They are characterized by the presence of multiple adnexal tumors, especially cylindromas, spiradenomas, spiradenocylindromas, and trichoepitheliomas. Implicated in the pathogenesis of the disease is the gene CYLD, which is localized on the long arm of chromosome 16. This gene encodes an evolutionarily conserved protein belonging to the deubiquitinating enzymes family, which plays a key role in many signaling pathways, especially in NF-?B, JNK, and Wnt. Less than 90 germline mutations of CYLD have been identified in patients with BSS/MFT. These mutations are mostly small alterations in the coding sequence and at exon-intron junction sites. One patient with an intronic mutation and another with a large CYLD deletion have also been recorded. In this study, the authors have analyzed a cohort of 14 patients with BSS/MFT from 13 families for large genome rearrangements by array comparative genome hybridization followed by confirmatory sequencing. We identified 2 large deletions, namely c.-34111_*297858del378779 and c.914-6398_1769del13642ins20 in patients with MFT and BSS, respectively. All other analyzable patients did not reveal any copy number alteration. It is concluded that the large rearrangements are relatively rare in patients without a germline CYLD mutation demonstrable by conventional sequencing. The pathogenetic mechanisms in patients with BSS/MFT lacking germline sequence alterations or large rearrangements in the CYLD gene remain to be clarified. PMID:25347032

  12. Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.

    PubMed

    Duman, Duygu; Sirmaci, Asli; Cengiz, F Basak; Ozdag, Hilal; Tekin, Mustafa

    2011-01-01

    More than 60% of prelingual deafness is genetic in origin, and of these up to 95% are monogenic autosomal recessive traits. Causal mutations have been identified in 1 of 38 different genes in a subset of patients with nonsyndromic autosomal recessive deafness. In this study, we screened 49 unrelated Turkish families with at least three affected children born to consanguineous parents. Probands from all families were negative for mutations in the GJB2 gene, two large deletions in the GJB6 gene, and the 1555A>G substitution in the mitochondrial DNA MTRNR1 gene. Each family was subsequently screened via autozygosity mapping with genomewide single-nucleotide polymorphism arrays. If the phenotype cosegregated with a haplotype flanking one of the 38 genes, mutation analysis of the gene was performed. We identified 22 different autozygous mutations in 11 genes, other than GJB2, in 26 of 49 families, which overall explains deafness in 62% of families. Relative frequencies of genes following GJB2 were MYO15A (9.9%), TMIE (6.6%), TMC1 (6.6%), OTOF (5.0%), CDH23 (3.3%), MYO7A (3.3%), SLC26A4 (1.7%), PCDH15 (1.7%), LRTOMT (1.7%), SERPINB6 (1.7%), and TMPRSS3 (1.7%). Nineteen of 22 mutations are reported for the first time in this study. Unknown rare genes for deafness appear to be present in the remaining 23 families. PMID:21117948

  13. Awareness of folic acid for prevention of neural tube defects in a community with high prevalence of consanguineous marriages

    Microsoft Academic Search

    Lutfi Jaber; Igbaria A. Karim; Abu Moch Jawdat; Mawasi Fausi; Paul Merlob

    2004-01-01

    Neural tube defects (NTDs) are severe congenital malformations and can be fatal. Intake of 0.4 mg folic in the periconceptional period reduces the risk of NTD by 50–70%. Consanguinity in the Arab population in Israel is a prevalent custom. The aim of this study was to assess the level of awareness regarding folic acid and its effect in the prevention of

  14. Local Differences in the Archbishopric of Santiago de Compostela (Galicia, Spain) in Relation to the Consanguinity Structure, 1900–1979

    Microsoft Academic Search

    C. Sánchez-Sellero; J. Fariña; R. L. Aínsua; T. A. Valera

    2011-01-01

    The microgeographic variability of consanguinity in the Archbishopric of Santiago de Compostela (Galicia) between 1900 and 1979 was studied. This Archbishopric covers 106 local councils integrated by 964 parishes, of which 677 (70.23%) were analyzed. Of the 307,094 marriages counted within this period, 15,739 corresponded to weddings between biologically related couples. Within the Archbishopric, eight geographical regions were considered: six

  15. Building Effective School - Family - Community Partnerships in a Large Urban School District. Report No. 13.

    ERIC Educational Resources Information Center

    Sanders, Mavis G.

    Since 1987 schools in Baltimore (Maryland) have been working with the Fund for Educational Excellence and the education research center at Johns Hopkins University to develop comprehensive programs of school-family-community partnerships. To understand better how these schools are building and improving their partnership programs, administrators,…

  16. Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene

    PubMed Central

    Du, H; Grob, S R; Zhao, L; Lee, J; El-Sahn, M; Hughes, G; Luo, J; Schaf, K; Duan, Y; Quach, J; Wei, X; Shaw, P; Granet, D; Zhang, K

    2012-01-01

    Background/Aims To determine the genetic basis of myotonia congenita (MC) and strabismus in a large Caucasian family. Methods Seven patients making up four generations of a family with MC and strabismus were recruited. All patients had at least one standard ophthalmic examination, including best-corrected visual acuity, refraction, and ocular motility measurements. CLCN1 and SCN4A genes were sequenced and analysed for mutations. Results Five out of the seven family members were diagnosed with MC by clinical history and electromyography. Ophthalmic history and exam revealed eyelid myotonia and strabismus. All patients with MC were diagnosed with strabismus between the ages of 3 and 6 and required surgical restoration of ocular alignment. Sequencing results revealed a c. 1333G>A; p. Val445Met mutation in the SCN4A gene. Conclusion There are few reports describing eyelid myotonia and strabismus in patients diagnosed with MC. We found significant ocular involvement in a family with a mutation in SCN4A. Future studies may confirm that MC with significant ocular involvement can be used to direct genetic analysis. PMID:22653516

  17. Heritability of X chromosome-inactivation phenotype in a large family

    SciTech Connect

    Naumova, A.K.; Sapienca, C. [Temple Univ. School of Medicine, Philadelphia, PA (United States); Plenge, R.M.; Willard, H.F. [Case Western Reserve Univ. School of Medicine and Univ. Hospitals of Cleveland, OH (United States)] [and others

    1996-06-01

    One of the two X chromosomes in each somatic cell of normal human females becomes inactivated very early in embryonic development. Although the inactivation of an X chromosome in any particular somatic cell of the embryonic lineage is thought to be a stochastic and epigenetic event, a strong genetic influence on this process has been described in the mouse. We have attempted to uncover evidence for genetic control of X-chromosome inactivation in the human by examining X-chromosome inactivation patterns in 255 females from 36 three-generation pedigrees, to determine whether this quantitative character exhibits evidence of heritability. We have found one family in which all seven daughters of one male and the mother of this male have highly skewed patterns of X-chromosome inactivation, suggesting strongly that this quantitative character is controlled by one or more X-linked genes in some families. 48 refs., 3 figs., 1 tab.

  18. Formin defines a large family of morphoregulatory genes and functions in establishment of the polarising region

    Microsoft Academic Search

    Rolf Zeller; Anna G. Haramis; Aimée Zuniga; Caroline McGuigan; Rosanna Dono; Gary Davidson; Sophie Chabanis; Toby Gibson

    1999-01-01

    Formin was originally isolated as the gene affected by the murine limb deformity (ld) mutations, which disrupt the epithelial-mesenchymal interactions regulating patterning of the vertebrate limb autopod. More\\u000a recently, a rapidly growing number of genes with similarity to formin have been isolated from many different species including fungi and plants. Genetic and biochemical analysis shows that formin family members function

  19. Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus

    SciTech Connect

    Belal, S.; Ben Hamida, C.; Hentati, F.; Ben Hamida, M. (Institut National de Neurologie, Tunis (Tunisia)); Panayides, K.; Ioannou, P.; MIddleton, L.T. (Cyprus Inst. of Neurology and Genetics, Nicosia (Cyprus)); Sirugo, G.; Koenig, S.; Mandel, J.L (LGME-CNRS, Strasbourg (France)); Beckmann, J. (Centre d'Etudes du Polymorphisme Humain, Paris (France))

    1992-12-01

    Friedreich ataxia is a neurodegenerative disorder with autosomal recessive inheritance. Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning. The two closest DNA markers, D9S5 and D9S15, show very tight linkage to FRDA, making difficult the ordering of the three loci. The authors present a linkage study of three large Friedreich ataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15. Haplotype data were used to investigate genetic homogeneity of the disease in these geographically related families. A meiotic recombination was found in a nonaffected individual, which excludes a 150-kb segment, including D9S15, as a possible location for the Freidreich ataxia gene and which should orient the search in the D9S5 region. 16 refs., 1 fig., 1 tab.

  20. Age distribution of human gene families shows significant roles of both large- and small-scale duplications in vertebrate evolution.

    PubMed

    Gu, Xun; Wang, Yufeng; Gu, Jianying

    2002-06-01

    The classical (two-round) hypothesis of vertebrate genome duplication proposes two successive whole-genome duplication(s) (polyploidizations) predating the origin of fishes, a view now being seriously challenged. As the debate largely concerns the relative merits of the 'big-bang mode' theory (large-scale duplication) and the 'continuous mode' theory (constant creation by small-scale duplications), we tested whether a significant proportion of paralogous genes in the contemporary human genome was indeed generated in the early stage of vertebrate evolution. After an extensive search of major databases, we dated 1,739 gene duplication events from the phylogenetic analysis of 749 vertebrate gene families. We found a pattern characterized by two waves (I, II) and an ancient component. Wave I represents a recent gene family expansion by tandem or segmental duplications, whereas wave II, a rapid paralogous gene increase in the early stage of vertebrate evolution, supports the idea of genome duplication(s) (the big-bang mode). Further analysis indicated that large- and small-scale gene duplications both make a significant contribution during the early stage of vertebrate evolution to build the current hierarchy of the human proteome. PMID:12032571

  1. Bracoviruses Contain a Large Multigene Family Coding for Protein Tyrosine Phosphatases

    PubMed Central

    Provost, Bertille; Varricchio, Paola; Arana, Eloisa; Espagne, Eric; Falabella, Patrizia; Huguet, Elisabeth; La Scaleia, Raffaella; Cattolico, Laurence; Poirié, Marylène; Malva, Carla; Olszewski, Julie A.; Pennacchio, Francesco; Drezen, Jean-Michel

    2004-01-01

    The relationship between parasitic wasps and bracoviruses constitutes one of the few known mutualisms between viruses and eukaryotes. The virions produced in the wasp ovaries are injected into host lepidopteran larvae, where virus genes are expressed, allowing successful development of the parasite by inducing host immune suppression and developmental arrest. Bracovirus-bearing wasps have a common phylogenetic origin, and contemporary bracoviruses are hypothesized to have been inherited by chromosomal transmission from a virus that originally integrated into the genome of the common ancestor wasp living 73.7 ± 10 million years ago. However, so far no conserved genes have been described among different braconid wasp subfamilies. Here we show that a gene family is present in bracoviruses of different braconid wasp subfamilies (Cotesia congregata, Microgastrinae, and Toxoneuron nigriceps, Cardiochilinae) which likely corresponds to an ancient component of the bracovirus genome that might have been present in the ancestral virus. The genes encode proteins belonging to the protein tyrosine phosphatase family, known to play a key role in the control of signal transduction pathways. Bracovirus protein tyrosine phosphatase genes were shown to be expressed in different tissues of parasitized hosts, and two protein tyrosine phosphatases were produced with recombinant baculoviruses and tested for their biochemical activity. One protein tyrosine phosphatase is a functional phosphatase. These results strengthen the hypothesis that protein tyrosine phosphatases are involved in virally induced alterations of host physiology during parasitism. PMID:15542661

  2. A family of derivative-free conjugate gradient methods for large-scale nonlinear systems of equations

    NASA Astrophysics Data System (ADS)

    Cheng, Wanyou; Xiao, Yunhai; Hu, Qing-Jie

    2009-02-01

    In this paper, we propose a family of derivative-free conjugate gradient methods for large-scale nonlinear systems of equations. They come from two modified conjugate gradient methods [W.Y. Cheng, A two term PRP based descent Method, Numer. Funct. Anal. Optim. 28 (2007) 1217-1230; L. Zhang, W.J. Zhou, D.H. Li, A descent modified Polak-Ribiére-Polyak conjugate gradient method and its global convergence, IMA J. Numer. Anal. 26 (2006) 629-640] recently proposed for unconstrained optimization problems. Under appropriate conditions, the global convergence of the proposed method is established. Preliminary numerical results show that the proposed method is promising.

  3. Retarded bone growth in thyroid hormone resistance. A clinical study of a large family with a novel thyroid hormone receptor mutation

    Microsoft Academic Search

    P. Kvistad; Ole L Myking

    2004-01-01

    Objective: Thyroid hormone resistance (RTH) is characterised by variable tissue hyporesponsiveness to thyroid hormone. The disorder is usually caused by mutations in the thyroid hormone receptor beta (TRb). We describe a large family with this disorder. Subjects and measurement: We identified 36 family members with RTH in four generations by screening relatives of patients with the diagnosis. The diagnosis was

  4. A Large Family of Multi-path Dual Congestion Control Algorithms

    E-print Network

    Liu, Ying; Xu, Ke; Shen, Meng; Zhong, Yifeng

    2011-01-01

    The goal of traffic management is efficiently utilizing network resources via adapting of source sending rates and routes selection. Traditionally, this problem is formulated into a utilization maximization problem. The single-path routing scheme fails to react to instantaneous network congestion. Multi-path routing schemes thus have been proposed aiming at improving network efficiency. Unfortunately, the natural optimization problem to consider is concave but not strictly concave. It thus brings a huge challenge to design stable multi-path congestion control algorithms. In this paper, we propose a generalized multi-path utility maximization model to consider the problem of routes selection and flow control, and derive a family of multi-path dual congestion control algorithms. We show that the proposed algorithms are stable in the absence of delays. We also derive decentralized and scalable sufficient conditions for a particular scheme when propagation delays exist in networks. Simulations are implemented usi...

  5. Exome Sequencing of 75 Individuals from Multiply Affected Coeliac Families and Large Scale Resequencing Follow Up

    PubMed Central

    Mistry, Vanisha; Bockett, Nicholas A.; Levine, Adam P.; Mirza, Muddassar M.; Hunt, Karen A.; Ciclitira, Paul J.; Hummerich, Holger; Neuhausen, Susan L.; Simpson, Michael A.; Plagnol, Vincent; van Heel, David A.

    2015-01-01

    Coeliac disease (CeD) is a highly heritable common autoimmune disease involving chronic small intestinal inflammation in response to dietary wheat. The human leukocyte antigen (HLA) region, and 40 newer regions identified by genome wide association studies (GWAS) and dense fine mapping, account for ?40% of the disease heritability. We hypothesized that in pedigrees with multiple individuals with CeD rare [minor allele frequency (MAF) <0.5%] mutations of larger effect size (odds ratios of ? 2–5) might exist. We sequenced the exomes of 75 coeliac individuals of European ancestry from 55 multiply affected families. We selected interesting variants and genes for further follow up using a combination of: an assessment of shared variants between related subjects, a model-free linkage test, and gene burden tests for multiple, potentially causal, variants. We next performed highly multiplexed amplicon resequencing of all RefSeq exons from 24 candidate genes selected on the basis of the exome sequencing data in 2,248 unrelated coeliac cases and 2,230 controls. 1,335 variants with a 99.9% genotyping call rate were observed in 4,478 samples, of which 939 were present in coding regions of 24 genes (Ti/Tv 2.99). 91.7% of coding variants were rare (MAF <0.5%) and 60% were novel. Gene burden tests performed on rare functional variants identified no significant associations (p<1×10?3) in the resequenced candidate genes. Our strategy of sequencing multiply affected families with deep follow up of candidate genes has not identified any new CeD risk mutations. PMID:25635822

  6. Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.

    PubMed

    Shahin, Hashem; Walsh, Tom; Rayyan, Amal Abu; Lee, Ming K; Higgins, Jake; Dickel, Diane; Lewis, Kristen; Thompson, James; Baker, Carl; Nord, Alex S; Stray, Sunday; Gurwitz, David; Avraham, Karen B; King, Mary-Claire; Kanaan, Moien

    2010-04-01

    In communities with high rates of consanguinity and consequently high prevalence of recessive phenotypes, homozygosity mapping with SNP arrays is an effective approach for gene discovery. In 20 Palestinian kindreds with prelingual nonsyndromic hearing loss, we generated homozygosity profiles reflecting linkage to the phenotype. Family sizes ranged from small nuclear families with two affected children, one unaffected sibling, and parents to multigenerational kindreds with 12 affected relatives. By including unaffected parents and siblings and screening 250 K SNP arrays, even small nuclear families yielded informative profiles. In 14 families, we identified the allele responsible for hearing loss by screening a single candidate gene in the longest homozygous region. Novel alleles included missense, nonsense, and splice site mutations of CDH23, MYO7A, MYO15A, OTOF, PJVK, Pendrin/SLC26A4, TECTA, TMHS, and TMPRSS3, and a large genomic deletion of Otoancorin (OTOA). All point mutations were rare in the Palestinian population (zero carriers in 288 unrelated controls); the carrier frequency of the OTOA genomic deletion was 1%. In six families, we identified five genomic regions likely to harbor novel genes for human hearing loss on chromosomes 1p13.3 (DFNB82), 9p23-p21.2/p13.3-q21.13 (DFNB83), 12q14.3-q21.2 (DFNB84; two families), 14q23.1-q31.1, and 17p12-q11.2 (DFNB85). PMID:19888295

  7. Turcot's syndrome and familial adenomatous polyposis associated with brain tumor: review of related literature

    Microsoft Academic Search

    H. Itoh; K. Hirata; K. Ohsato

    1993-01-01

    We investigated clinical manifestations in 124 patients with a possible Turcot's syndrome whose data were taken from documented cases. The cases were subclassified mainly on the bases of the type of familial occurrence and listed in five Tables. We searched for differences in colonic manifestation, histologic type of glioma, mode of inheritance, frequency of parental consanguinity, skin lesions and other

  8. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.

    PubMed

    Jiang, Miao; Zhao, Xiuli; Han, Weitian; Bian, Chaoying; Li, Xuefu; Wang, Ge; Ao, Yang; Li, Yunqing; Yi, Dongxu; Zhe, Yang; Lo, Wilson H Y; Zhang, Xue; Li, Jianxin

    2006-09-01

    Distal arthrogryposis (DA) is composed of a group of clinically and genetically heterogeneous disorders, characterized by multiple congenital contractures of the limbs. Point mutations in three genes encoding contractile fast-twitch myofibers, TPM2, TNNI2 and TNNT3, were recently identified in DA type 1 (DA1; MIM 108120) and DA type 2B (DA2B; MIM 601680). We have described a large Chinese DA family in which different individuals had phenotypes similar to DA1 or DA2B. To map the disease locus in this family, two-point linkage analysis was first performed using microsatellite markers selected from the genomic regions close to the TPM2, TNNI2/TNNT3 and TNNC2 genes. A positive LOD score of 3.61 at theta = 0 was obtained with the marker close to the TNNI2/TNNT3 genes, corresponding to the genetic mapping site of DA2B. Direct sequencing of the PCR-amplified DNA fragment spanning exon 8 of the TNNI2 gene showed a heterozygous deletion, c.523_525delAAG (p.K175del), in the proband. This novel mutation was confirmed to cosegregate with the DA phenotype in affected individuals but not detected in all unaffected individuals of the family and not in 50 healthy controls. In summary, we have found a novel TNNI2 mutation in a Chinese family with DA2B. Our work represents the first report on the link between TNNI2 and the DA phenotype in Chinese. PMID:16802141

  9. A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.

    PubMed

    Saglar, Emel; Deniz, Ferhat; Erdem, Beril; Karaduman, Tugce; Yönem, Arif; Cagiltay, Eylem; Mergen, Hatice

    2014-05-01

    X-linked nephrogenic diabetes insipidus (NDI) is a rare hereditary disease caused by mutations in arginine vasopressin type 2 receptor (AVPR2) and characterized by the production of large amounts of urine and an inability to concentrate urine in response to the antidiuretic hormone vasopressin. We have identified a novel 388 bp deletion starting in intron 1 and ending in exon 2 in the AVPR2 gene in a patient with NDI and in his family. We have revealed that this mutation is a de novo mutation for the mother of the proband patient. Prospective clinical data were collected for all family members. The water deprivation test confirmed the diagnosis of diabetes insipidus. The patient has severe symptoms like deep polyuria nocturia, polydipsia, and fatigue. He was given arginine vasopressin treatment while he was a child. However, he could not get well due to his nephrogenic type of illness. Both of his nephews have the same complains in addition to failure to grow. We have sequenced all exons and intron-exon boundaries of the AVPR2 gene of all family members. The analyses of bioinformatics and comparative genomics of the deletion were done via considering the DNA level damage. AVPR2 gene mutation results in the absence of the three transmembrane domains, two extracellular domains, and one cytoplasmic domain. Three-dimensional protein structure prediction was shown. We concluded that X-linked NDI and severity of illness in this family is caused by a novel 388 bp deletion in the AVPR2 gene that is predicted to truncate the receptor protein, and also this deletion may lead to dysfunctioning in protein activity and inefficient or inadequate binding abilities. PMID:24026507

  10. Evolutionary expansion and divergence in a large family of primate-specific zinc finger transcription factor genes

    SciTech Connect

    Hamilton, A T; Huntley, S; Tran-Gyamfi, M; Baggott, D; Gordon, L; Stubbs, L

    2005-09-28

    Although most genes are conserved as one-to-one orthologs in different mammalian orders, certain gene families have evolved to comprise different numbers and types of protein-coding genes through independent series of gene duplications, divergence and gene loss in each evolutionary lineage. One such family encodes KRAB-zinc finger (KRAB-ZNF) genes, which are likely to function as transcriptional repressors. One KRAB-ZNF subfamily, the ZNF91 clade, has expanded specifically in primates to comprise more than 110 loci in the human genome, yielding large gene clusters in human chromosomes 19 and 7 and smaller clusters or isolated copies at other chromosomal locations. Although phylogenetic analysis indicates that many of these genes arose before the split between old world monkeys and new world monkeys, the ZNF91 subfamily has continued to expand and diversify throughout the evolution of apes and humans. The paralogous loci are distinguished by sequence divergence within their zinc finger arrays indicating a selection for proteins with different DNA binding specificities. RT-PCR and in situ hybridization data show that some of these ZNF genes can have tissue-specific expression patterns, however many KRAB-ZNFs that are near-ubiquitous could also be playing very specific roles in halting target pathways in all tissues except for a few, where the target is released by the absence of its repressor. The number of variant KRAB-ZNF proteins is increased not only because of the large number of loci, but also because many loci can produce multiple splice variants, which because of the modular structure of these genes may have separate and perhaps even conflicting regulatory roles. The lineage-specific duplication and rapid divergence of this family of transcription factor genes suggests a role in determining species-specific biological differences and the evolution of novel primate traits.

  11. Analysis of Arabidopsis genome sequence reveals a large new gene family in plants

    Microsoft Academic Search

    J. P. Ride; E. M. Davies; F. C. H. Franklin; D. F. Marshall

    1999-01-01

    A detailed analysis of the currently available Arabidopsis thaliana genomic sequence has revealed the presence of a large number of open reading frames with homology to the stigmatic self-incompatibility (S) genes of Papaver rhoeas. The products of these potential genes are all predicted to be relatively small, basic, secreted proteins with similar predicted secondary structures. We have named these potential

  12. A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity

    Microsoft Academic Search

    S. Cataltepe; E. Tuncbilek

    1992-01-01

    A 2-year-old boy with typical features of the acrocallosal syndrome is presented. His parents are first degree cousins and their first pregnancy resulted in spontaneous abortion whereas the offspring of their second pregnancy was an anencephalic baby with bilateral postaxial polydactyly of the hands. The possibility of including anencephaly in the spectrum of the CNS malformations of the acrocallosal syndrome

  13. [Computerized family reconstitution on a large data-base: the SOREP system].

    PubMed

    Bouchard, G; Roy, R; Casgrain, B

    1986-01-01

    This article outlines a new system for computerized family reconstitution. It has been developed in the last 10 years by a multidisciplinary team of Quebec researchers belonging to the Inter-University Research Center on Populations (SOREP). Basically, this system is characterized by 1) an attempt to computerize as much as possible every step involved in the process of reconstitution, 2) a set of tools devised for identifying and measuring all forms and degrees of similarity between names and surnames, 3) a technique to process cases of ambiguous links, 4) a set of programs used to assess the quality of the data and the strength of the links created, and 5) an attempt to maximize the performance of the linkage work in terms of both efficiency and accuracy. The system has been designed to support several kinds of analyses, from social history and demography to population genetics. The paper contains a brief overview of the current state of research in the field record linkage, an introduction to the Saguenay population register, and a description of the system itself which has utilized sucessfully in the last year on the 660,000 Saguenay parish records, covering the period 1842-1971. PMID:12280638

  14. Lipid transfer particle from the silkworm, Bombyx mori, is a novel member of the apoB/large lipid transfer protein family[S

    PubMed Central

    Yokoyama, Hiroshi; Yokoyama, Takeru; Yuasa, Masashi; Fujimoto, Hirofumi; Sakudoh, Takashi; Honda, Naoko; Fugo, Hajime; Tsuchida, Kozo

    2013-01-01

    Lipid transfer particle (LTP) is a high-molecular-weight, very high-density lipoprotein known to catalyze the transfer of lipids between a variety of lipoproteins, including both insects and vertebrates. Studying the biosynthesis and regulation pathways of LTP in detail has not been possible due to a lack of information regarding the apoproteins. Here, we sequenced the cDNA and deduced amino acid sequences for three apoproteins of LTP from the silkworm (Bombyx mori). The three subunit proteins of the LTP are coded by two genes, apoLTP-II/I and apoLTP-III. ApoLTP-I and apoLTP-II are predicted to be generated by posttranslational cleavage of the precursor protein, apoLTP-II/I. Clusters of amphipathic secondary structure within apoLTP-II/I are similar to Homo sapiens apolipoprotein B (apoB) and insect lipophorins. The apoLTP-II/I gene is a novel member of the apoB/large lipid transfer protein gene family. ApoLTP-III has a putative conserved juvenile hormone-binding protein superfamily domain. Expression of apoLTP-II/I and apoLTP-III genes was synchronized and both genes were primarily expressed in the fat body at the stage corresponding to increased lipid transport needs. We are now in a position to study in detail the physiological role of LTP and its biosynthesis and assembly. PMID:23812557

  15. Familial chondrocalcinosis in the Chiloe Islands, Chile.

    PubMed Central

    Reginato, A J; Hollander, J L; Martinez, V; Valenzuela, F; Schiapachasse, V; Covarrubias, E; Jacobelli, S; Arinoviche, R; Silcox, D; Ruiz, F

    1975-01-01

    Studies about chondrocalcinosis in the Chiloe Islands (Chile) showed the high frequency of the disease there and how most of it is aggregated in a few highly involved families. Pedigrees and the high degree of consanguinity among parents of index cases pointed to a recessive inheritance. The presence of common Caucasian anthropological features of genetic value in the patients and the lack of Indian mixture in three of the involved families, documented back to 1600, suggest a Caucasian origin of the mutation. Biochemical studies of the patients' synovial fluid showed a significant rise in pyrophosphate concentration. Calcium, phosphorus, and alkaline phosphatase concentrations were not different from a control group. PMID:168817

  16. SCA15 due to large ITPR1 deletions in a cohort of 333 Caucasian families with dominant ataxia

    PubMed Central

    Marelli, Cecilia; van de Leemput, Joyce; Johnson, Janel O; Tison, Francois; Thauvin-Robinet, Christel; Picard, Fabienne; Tranchant, Christine; Hernandez, Dena G; Huttin, Bernard; Boulliat, Jacques; Sangla, Iban; Marescaux, Christian; Brique, Serge; Dollfus, Hélène; Arepalli, Sampath; Benatru, Isabelle; Ollagnon, Elisabeth; Forlani, Sylvie; Hardy, John; Stevanin, Giovanni; Dürr, Alexandra; Singleton, Andrew; Brice, Alexis

    2011-01-01

    Objectives to determine the frequency and the phenotypical spectrum of SCA15 patients. Methods in the index cases of 333 families with autosomal dominant cerebellar ataxia (ADCA) negative for CAG repeat expansions in coding exons (SCA1,2,3,6,7,17 and dentatorubropallidoluysian atrophy), we searched for heterozygous rearrangements in ITPR1. Taqman PCR (258 index cases) or SNP genome-wide genotyping (75 index cases) were used. Results a deletion of ITPR1 was found in 6/333 (1.8%) families, corresponding to 13 SCA15 patients. Age at onset ranged from 18 to 66 years with a mean of 35±16 years. The symptom at onset was mainly cerebellar gait ataxia, except for one patient presenting with isolated upper limb tremor. Although we tested a large cohort of families irrespective of their phenotype, the main clinical features of SCA15 patients were homogeneous and characterized by a very slowly progressive gait and limb cerebellar ataxia with dysarthria. However, pyramidal signs (two patients), and mild cognitive problems (two patients) were occasionally present. Ocular alterations consisted of nystagmus, mainly horizontal and gaze-evoked (ten patients), and saccadic pursuit (seven patients). Radiological findings showed global or predominant vermian cerebellar atrophy in all patients. Conclusions In this series ITPR1 deletions are rare and account for ~1% of all ADCA. The SCA15 phenotype mostly consists of a slowly progressive isolated cerebellar ataxia with variable age at onset; an additional pyramidal syndrome and problems in executive functions may be present in a minority of patients. PMID:21555639

  17. Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil.

    PubMed

    Chaves, R G; Pereira, L da Veiga; de Araújo, F T; Rozenberg, R; Carvalho, M D F; Coelho, J C; Michelin-Tirelli, K; Chaves, M de Freitas; Cavalcanti, G B

    2014-10-01

    Gaucher's disease (GD) is caused by a ?-glucocerebrosidase deficiency, leading to the accumulation of glucocerebroside in the reticuloendothelial system. The prevalence of GD in Tabuleiro do Norte (TN) (1:4000) is the highest in Brazil. The purpose of this study was to present evidence of consanguinity and founder effect for the G377S mutation (c.1246G>A) among GD patients in TN based on enzyme, molecular and genealogical studies. Between March 2009 and December 2010, 131 subjects at risk for GD (GC in dried blood ?2.19?nmol/h/ml) and 5 confirmed GD patients from the same community were submitted for molecular analysis to characterize the genetic profile of the population. Based on the enzymatic and molecular analysis, the subjects were classified into three categories: affected (n?=?5), carrier (n?=?20) and non-carrier (n?=?111). All carriers were (G377S/wt). Affected subjects were homozygous (G377S/G377S). The identification of a single mutation in carriers and homozygotes from different generations, the history of the community and the genealogy study suggest that the high prevalence of GD in this population may be due to a combination of consanguinity and founder effect for the G377S mutation. PMID:25287185

  18. Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 EPH families using 15 polymorphic loci in the region 5q11. 2-q13. 3

    Microsoft Academic Search

    B. Wirth; E. Pick; A. Leutner; A. Dadze; B. Voosen; B. Piechaczek-Wappenschmidt; S. Rudnik-Schoeneborn; J. Schoenling; K. Zerres; M. Knapp

    1994-01-01

    The autosomal recessive proximal spinal muscular atrophy (SMA) gene was mapped to the region 5q11.2-q.13.3 in 1990. Here, the authors present a large genetic linkage study of 100 SMA families and 11 CEPH families using 14 polymorphic simple sequence repeats (SSRs) and one RFLP in the region 5q11.2-q.13.3. The genetic interval between the closest SMA flanking loci D5S435 and D5S557

  19. Familial Burkitt's lymphoma in Nigerians.

    PubMed

    Salawu, L; Fatusi, O A; Kemi-Rotimi, F; Adeodu, O O; Durosinmi, M A

    1997-12-01

    Three Nigerian sib-pairs with familial Burkitt's lymphoma (BL) seen between 1986 and 1996 are described. Their ages ranged from 4 to 20 years (median 9.5), and there were five males and one female. The mean age interval between each pair at presentation was 4 years (3-6) and the mean time interval 22 months (0.3-41). Two of the sib-pairs were sex-concordant, including a set of monozygotic twins. Five of the patients presented in stage C and one in stage A. Parental consanguinity was not found in any group. Space-clustering was confirmed in all three but time-clustering in only one. The occurrence of BL in multiple members of the same family, the presence of sex concordance and the relatively wide variation in the time of onset of disease between each pair suggest genetic predisposition as a possible additional aetiological factor for BL in the families affected. PMID:9578799

  20. A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).

    PubMed Central

    Lench, N J; Markham, A F; Mueller, R F; Kelsell, D P; Smith, R J; Willems, P J; Schatteman, I; Capon, H; Van De Heyning, P J; Van Camp, G

    1998-01-01

    We report a mutation in the connexin 26 gene (Cx26) in a consanguineous Moroccan family linked to the DFNA3/DFNB1 locus on human chromosome 13q11-q12. Affected subjects display congenital, bilateral, sensorineural hearing loss. We have previously identified Cx26 mutations in consanguineous Pakistani families. This current finding indicates that Cx26 mutations are not restricted to ethnically and geographically distinct populations. This is an important observation since it will help to determine the overall contribution of connexin 26 mutations to autosomal deafness in different populations. Images PMID:9507396

  1. Lack of Evidence for Increased Genetic Loading for Autism among Families of Affected Females: A Replication from Family History Data in Two Large Samples

    ERIC Educational Resources Information Center

    Goin-Kochel, Robin P.; Abbacchi, Anna; Constantino, John N.

    2007-01-01

    Both the broad and narrow phenotypes of autism have been consistently observed in family members of affected individuals. Additionally, autism spectrum disorders (ASDs) present four times more often in males than in females, for reasons that are currently unknown. In this study, we examined whether there were differences in familial loading of ASD…

  2. A large deletion encompassing the entire alpha-like globin gene cluster in a family of northern European extraction.

    PubMed Central

    Fortina, P; Delgrosso, K; Rappaport, E; Poncz, M; Ballas, S K; Schwartz, E; Surrey, S

    1988-01-01

    We describe a new deletional form of alpha thalassemia segregating in three generations of a family of northern European origin. A full-term female girl had hypochromic, microcytic anemia since early infancy associated with delayed language development, slow growth and weight gain. Hematologic studies suggested the presence of alpha thalassemia. Gene-blotting studies showed no abnormal alpha-like globin gene fragments; however, studies of inheritance of informative polymorphic restriction fragments using zeta, alpha and 3'-alpha-hypervariable region (3'-HVR) probes showed evidence for an extensive deletion encompassing the entire alpha-like globin gene cluster. The 3' breakpoint of this deletion maps beyond the 3'-HVR, a region implicated as a hot spot for the generation of other large deletional events within the alpha-like cluster. The 5' breakpoint maps at least 10 kilobases (kb) 5' to the zeta-globin gene. The minimum size estimate for this deletion is greater than 47 kilobases. Images PMID:2905048

  3. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

    PubMed Central

    Nielsen, Morten S.; Corydon, Thomas J.; Demontis, Ditte; Starnawska, Anna; Hedemand, Anne; Buniello, Annalisa; Niola, Francesco; Overgaard, Michael T.; Leal, Suzanne M.; Ahmad, Wasim; Wikman, Friedrik P.; Petersen, Kirsten B.; Crüger, Dorthe G.; Oostrik, Jaap; Kremer, Hannie; Tommerup, Niels; Frödin, Morten; Steel, Karen P.; Tranebjærg, Lisbeth; Børglum, Anders D.

    2015-01-01

    Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192*) in CD164. This gene encodes a 197 amino acid transmembrane sialomucin (known as endolyn, MUC-24 or CD164), which is widely expressed and involved in cell adhesion and migration. The mutation segregated with the phenotype and was absent in 1200 Danish control individuals and in databases with whole-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXX?). In whole blood from an affected individual, we found by RT-PCR both the wild-type and the mutated transcript suggesting that the mutant transcript escapes nonsense mediated decay. Functional studies in HEK cells demonstrated that the truncated protein was almost completely retained on the plasma cell membrane in contrast to the wild-type protein, which targeted primarily to the endo-lysosomal compartments, implicating failed endocytosis as a possible disease mechanism. In the mouse ear, we found CD164 expressed in the inner and outer hair cells of the organ of Corti, as well as in other locations in the cochlear duct. In conclusion, we have identified a new DFNA locus located on chromosome 6q15-21 and implicated CD164 as a novel gene for hearing impairment. PMID:26197441

  4. Protein-bound molecules: a large family with a bad character.

    PubMed

    Sirich, Tammy L; Meyer, Timothy W; Gondouin, Bertrand; Brunet, Philippe; Niwa, Toshimitsu

    2014-03-01

    Many small solutes excreted by the kidney are bound to plasma proteins, chiefly albumin, in the circulation. The combination of protein binding and tubular secretion allows the kidney to reduce the free, unbound concentrations of such solutes to lower levels than could be obtained by tubular secretion alone. Protein-bound solutes accumulate in the plasma when the kidneys fail, and the free, unbound levels of these solutes increase more than their total plasma levels owing to competition for binding sites on plasma proteins. Given the efficiency by which the kidney can clear protein-bound solutes, it is tempting to speculate that some compounds in this class are important uremic toxins. Studies to date have focused largely on two specific protein-bound solutes: indoxyl sulfate and p-cresyl sulfate. The largest body of evidence suggests that both of these compounds contribute to cardiovascular disease, and that indoxyl sulfate contributes to the progression of chronic kidney disease. Other protein-bound solutes have been investigated to a much lesser extent, and could in the future prove to be even more important uremic toxins. PMID:24780467

  5. Large Deviations for Stationary Probabilities of a Family of Continuous Time Markov Chains via Aubry-Mather Theory

    NASA Astrophysics Data System (ADS)

    Lopes, Artur O.; Neumann, Adriana

    2015-05-01

    In the present paper, we consider a family of continuous time symmetric random walks indexed by , . For each the matching random walk take values in the finite set of states ; notice that is a subset of , where is the unitary circle. The infinitesimal generator of such chain is denoted by . The stationary probability for such process converges to the uniform distribution on the circle, when . Here we want to study other natural measures, obtained via a limit on , that are concentrated on some points of . We will disturb this process by a potential and study for each the perturbed stationary measures of this new process when . We disturb the system considering a fixed potential and we will denote by the restriction of to . Then, we define a non-stochastic semigroup generated by the matrix , where is the infinifesimal generator of . From the continuous time Perron's Theorem one can normalized such semigroup, and, then we get another stochastic semigroup which generates a continuous time Markov Chain taking values on . This new chain is called the continuous time Gibbs state associated to the potential , see (Lopes et al. in J Stat Phys 152:894-933, 2013). The stationary probability vector for such Markov Chain is denoted by . We assume that the maximum of is attained in a unique point of , and from this will follow that . Thus, here, our main goal is to analyze the large deviation principle for the family , when . The deviation function , which is defined on , will be obtained from a procedure based on fixed points of the Lax-Oleinik operator and Aubry-Mather theory. In order to obtain the associated Lax-Oleinik operator we use the Varadhan's Lemma for the process . For a careful analysis of the problem we present full details of the proof of the Large Deviation Principle, in the Skorohod space, for such family of Markov Chains, when . Finally, we compute the entropy of the invariant probabilities on the Skorohod space associated to the Markov Chains we analyze.

  6. A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.

    PubMed

    Siddiqi, Saima; Ismail, Muhammad; Oostrik, Jaap; Munawar, Saba; Mansoor, Atika; Kremer, Hannie; Qamar, Raheel; Schraders, Margit

    2014-12-01

    With homozygosity mapping we have identified two large homozygous regions on chromosome 3q13.11-q13.31 and chromosome 19p13.3-q31.32 in a large Pakistani family suffering from autosomal recessive nonsyndromic hearing impairment (arNSHI). The region on chromosome 19 overlaps with the previously described deafness loci DFNB15, DFNB72 and DFNB95. Mutations in GIPC3 have been shown to underlie the nonsyndromic hearing impairment linked to these loci. Sequence analysis of all exons and exon-intron boundaries of GIPC3 revealed a homozygous canonical splice site mutation, c.226-1G>T, in GIPC3. This is the first mutation described in GIPC3 that affects splicing. The c.226-1G>T mutation is located in the acceptor splice site of intron 1 and is predicted to affect the normal splicing of exon 2. With a minigene assay it was shown to result in the use of an alternative acceptor site in exon 2, resulting in a frameshift and a premature stop codon. This study expands the mutational spectrum of GIPC3 in arNSHI. PMID:25296581

  7. Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

    PubMed Central

    Walne, Amanda J.; Dokal, Arran; Plagnol, Vincent; Beswick, Richard; Kirwan, Michael; de la Fuente, Josu; Vulliamy, Tom; Dokal, Inderjeet

    2012-01-01

    The primary cause of aplastic anemia remains unknown in many patients. The aim of this study was to clarify the genetic cause of familial aplastic anemia. Genomic DNA of an affected individual from a multiplex consanguineous family was hybridized to a Nimblegen exome library before being sequenced on a GAIIx genome analyzer. Once the disease causing homozygous mutation had been confirmed in the consanguineous family, this gene was then analyzed for mutation in 33 uncharacterized index cases of aplastic anemia (<13 years) using denaturing HPLC. Abnormal traces were confirmed by direct sequencing. Exome sequencing identified a novel homozygous nonsense mutation in the thrombopoietin receptor gene MPL. An additional novel homozygous MPL mutation was identified in the screen of 33 aplastic anemia patients. This study shows for the first time a link between homozygous MPL mutations and familial aplastic anemia. It also highlights the important role of MPL in trilineage hematopoiesis. PMID:22180433

  8. Accuracy of genomic selection models in a large population of open-pollinated families in white spruce.

    PubMed

    Beaulieu, J; Doerksen, T; Clément, S; MacKay, J; Bousquet, J

    2014-10-01

    Genomic selection (GS) is of interest in breeding because of its potential for predicting the genetic value of individuals and increasing genetic gains per unit of time. To date, very few studies have reported empirical results of GS potential in the context of large population sizes and long breeding cycles such as for boreal trees. In this study, we assessed the effectiveness of marker-aided selection in an undomesticated white spruce (Picea glauca (Moench) Voss) population of large effective size using a GS approach. A discovery population of 1694 trees representative of 214 open-pollinated families from 43 natural populations was phenotyped for 12 wood and growth traits and genotyped for 6385 single-nucleotide polymorphisms (SNPs) mined in 2660 gene sequences. GS models were built to predict estimated breeding values using all the available SNPs or SNP subsets of the largest absolute effects, and they were validated using various cross-validation schemes. The accuracy of genomic estimated breeding values (GEBVs) varied from 0.327 to 0.435 when the training and the validation data sets shared half-sibs that were on average 90% of the accuracies achieved through traditionally estimated breeding values. The trend was also the same for validation across sites. As expected, the accuracy of GEBVs obtained after cross-validation with individuals of unknown relatedness was lower with about half of the accuracy achieved when half-sibs were present. We showed that with the marker densities used in the current study, predictions with low to moderate accuracy could be obtained within a large undomesticated population of related individuals, potentially resulting in larger gains per unit of time with GS than with the traditional approach. PMID:24781808

  9. High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome

    PubMed Central

    Aretz, S; Stienen, D; Uhlhaas, S; Stolte, M; Entius, M M; Loff, S; Back, W; Kaufmann, A; Keller, K?M; Blaas, S H; Siebert, R; Vogt, S; Spranger, S; Holinski?Feder, E; Sunde, L; Propping, P; Friedl, W

    2007-01-01

    Background In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown. Methods Mutation and phenotype analysis was used in 80 unrelated patients of whom 65 met the clinical criteria for JPS (typical JPS) and 15 were suspected to have JPS. Results By direct sequencing of the two genes, point mutations were identified in 30 patients (46% of typical JPS). Using MLPA, large genomic deletions were found in 14% of all patients with typical JPS (six deletions in SMAD4 and three deletions in BMPR1A). Mutation analysis of the PTEN gene in the remaining 41 mutation negative cases uncovered a point mutation in two patients (5%). SMAD4 mutation carriers had a significantly higher frequency of gastric polyposis (73%) than did patients with BMPR1A mutations (8%) (p<0.001); all seven cases of gastric cancer occurred in families with SMAD4 mutations. SMAD4 mutation carriers with gastric polyps were significantly older at gastroscopy than those without (p<0.001). In 22% of the 23 unrelated SMAD4 mutation carriers, hereditary hemorrhagic telangiectasia (HHT) was also diagnosed clinically. The documented histologic findings encompassed a wide distribution of different polyp types, comparable with that described in hereditary mixed polyposis syndromes (HMPS). Conclusions Screening for large deletions raised the mutation detection rate to 60% in the 65 patients with typical JPS. A strong genotype?phenotype correlation for gastric polyposis, gastric cancer, and HHT was identified, which should have implications for counselling and surveillance. Histopathological results in hamartomatous polyposis syndromes must be critically interpreted. PMID:17873119

  10. Affinal and Consanguineal Kin as a Social Support for the Rural Elderly. Paper of the Journal Series of the North Carolina Agricultural Research Service, Raleigh, NC.

    ERIC Educational Resources Information Center

    Kivett, Vira R.

    Although the support network of elderly individuals has received increased attention recently, most research has focused on the parent child relationship without examining other levels of kin interrelations. To examine the help received by rural-transitional older adults from their consanguineous kin (adult children, grandchildren, siblings,…

  11. Familial mitochondrial DNA depletion in liver: haplotype analysis of candidate genes

    Microsoft Academic Search

    Johannes N. Spelbrink; Mieke J. M. Van Galen; R. Zwart; Henk D. Bakker; Anja Rovio; Howard T. Jacobs; Coby Van den Bogert

    1998-01-01

    Two sons and one daughter of healthy consanguineous parents presented with fatal hepatic failure in association with severe\\u000a depletion of mitochondrial (mt)DNA in liver; a third son is healthy. Other published cases of mtDNA depletion concern single\\u000a members of a family, which excludes the use of haplotype analysis. In the family presented here, the inheritance of the genes\\u000a for mitochondrial

  12. Lack of evidence for increased genetic loading for autism among families of affected females: a replication from family history data in two large samples.

    PubMed

    Goin-Kochel, Robin P; Abbacchi, Anna; Constantino, John N

    2007-05-01

    Both the broad and narrow phenotypes of autism have been consistently observed in family members of affected individuals. Additionally, autism spectrum disorders (ASDs) present four times more often in males than in females, for reasons that are currently unknown. In this study, we examined whether there were differences in familial loading of ASD among families of male versus female probands. Analyses were conducted with existing data from two distinct samples. The first sample contained 417 individuals with autism and Asperger's disorder and included information on the ASD diagnoses of their first- and second-degree relatives. The second sample consisted of 405 sibships participating in the Autism Genetic Resource Exchange, of which one or more siblings had an ASD diagnosis. Results from both samples did not suggest significant differences in the prevalence of ASD among relatives of affected males versus females. PMID:17478580

  13. Large repayments of premium subsidies may be owed to the IRS if family income changes are not promptly reported.

    PubMed

    Jacobs, Ken; Graham-Squire, Dave; Gould, Elise; Roby, Dylan

    2013-09-01

    Subsidies for health insurance premiums under the Affordable Care Act are refundable tax credits. They can be taken when taxes are filed or in advance, as reductions in monthly premiums that must be reconciled at tax filing. Recipients who take subsidies in advance will receive tax refunds if their subsidies were too small but will have to make repayments if their subsidies were too high. We analyzed predicted repayments and refunds for people receiving subsidies, using California as a case study. We found that many families could owe large repayments to the Internal Revenue Service at their next tax filing. If income changes were reported and credits adjusted in a timely manner throughout the tax year, the number of filers owing repayments would be reduced by 7-41 percent and the median size of repayments reduced by as much as 61 percent (depending on the level of changes reported and the method used to adjust the subsidy amounts). We recommend that the health insurance exchanges mandated by the Affordable Care Act educate consumers about how the subsidies work and the need to promptly report income changes. We also recommend that they provide tools and assistance to determine the amount of subsidies that enrollees should take in advance. PMID:24019357

  14. An Exploratory Analysis of Family Coping Styles and Psychobiological Distress Among Adolescents Affected by a Large-Scale Disaster

    Microsoft Academic Search

    Jacob M. Vigil; David C. Geary

    2009-01-01

    The authors examined the relations between mobilizing coping, the tendency for families to respond to problems by seeking community-based assistance, and psychological distress and cortisol activity in homeless adolescents (12–17 years) who were displaced by Hurricane Katrina (n = 50) as compared to demographically matched controls (n = 31). Perceptions of family mobilizing covaried with lower cortisol activity, a physiological

  15. Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome

    Microsoft Academic Search

    Marcello Villanova; Eugenio Mercuri; Enrico Bertini; Patrizia Sabatelli; Lucia Morandi; Marina Mora; Caroline Sewry; Martin Brockington; Susan C Brown; Ana Ferreiro; Nadir M Maraldi; Tatsushi Toda; Pascale Guicheney; Luciano Merlini; Francesco Muntoni

    2000-01-01

    We describe four Italian patients (aged 3, 4, 12, and 13 years ) affected by a novel autosomal form of recessive congenital muscular dystrophy. These patients were from three non-consanguineous families and presented an almost identical phenotype. This was characterized by hypotonia at birth, joint contractures associated with severe psychomotor retardation, absent speech, inability to walk and almost no interest

  16. Familiality of Tourette Syndrome, Obsessive-Compulsive Disorder, and Attention-Deficit\\Hyperactivity Disorder: Heritability Analysis in a Large Sib-Pair Sample

    PubMed Central

    Mathews, Carol A.; Grados, Marco A.

    2010-01-01

    Objective Tourette Syndrome (TS) is a neuropsychiatric disorder with a genetic component that is highly comorbid with obsessive-compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD). However, the genetic relationships between these disorders have not been clearly elucidated. In this study we examine the familial relationships between TS, OCD, and ADHD in a large sample of TS families. Method Parent-offspring concordance of TS, OCD, and ADHD was examined in 952 individuals from 222 TS-affected sib pair families originally collected for genetic studies using logistic regression with generalized estimating equations (GEE) to control for correlated data. Variance components methods were used to estimate the heritability and genetic and environmental correlations between TS, OCD, and ADHD. Bilineal families where both parents had either TS or OCD were excluded. Results OCD and ADHD were highly heritable in these TS families. We found significant genetic correlations between TS and OCD and between OCD and ADHD, but not between TS and ADHD. We also found significant environmental correlations between TS and ADHD and between OCD and ADHD. Parental OCD+ADHD was associated with offspring OCD+ADHD. Conclusions This study provides further evidence for a genetic relationship between TS and OCD, and suggests that the observed relationship between TS and ADHD may in part be due to a genetic association between OCD and ADHD and in part due to shared environmental factors. PMID:21156269

  17. Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene.

    PubMed

    Østern, Rune; Fagerheim, Toril; Ørstavik, Kristin; Holmøy, Trygve; Heiberg, Arvid; Lund-Petersen, Inger; Strom, Tim M; Nilssen, Øivind; Dahl, Arve

    2012-06-01

    Mutant genes associated with Charcot Marie Tooth type 2, distal hereditary motor neuropathy and familial amyotrophic lateral sclerosis may cause overlapping clinical phenotypes. We performed whole genome linkage analysis, haplotype analysis, sequencing and detailed clinical and neurophysiological investigations in a large Norwegian kindred with a condition that clinically had been classified as Charcot Marie Tooth type 2. The mutation c.140A>G, p.His47Arg (alias p.His46Arg or H46R) in the superoxide dismutase 1 gene (SOD1) segregated with the disease. The patients present a hereditary motor neuropathy-like clinical picture and long survival (mean 29years). To our knowledge, this is the first extensive report describing a large non-Japanese kindred. The prognostic implications of the condition seen in this family have little in common with what is normally associated with sporadic amyotrophic lateral sclerosis and illustrates the complexity of the genetic etiology of lower motor neuron disease. PMID:22475618

  18. A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.

    PubMed

    Remiche, Gauthier; Kadhim, Hazim; Abramowicz, Marc; Mavroudakis, Nicolas; Monnier, Nicole; Lunardi, Joël

    2015-05-01

    We report a novel and particularly unusual type of mutation, namely, large deletion in the RYR1 gene, in a Belgian family with myopathy: Patients were found to be compound heterozygous and presented a clinico-pathological phenotype characterized by late-onset and recessive myopathy with cores. We depict the clinical, electrophysiological, pathological and molecular genetic characteristics of family members. To date, large deletions in the RYR1 gene have been reported in only two cases. Both involved different mutations and, in sharp contrast to our cases, presented with a very early-onset, neonatal, and a very severe or lethal phenotype. Overview of reported clinico-pathologic phenotypes, also highlights the rarity of combined late-onset/recessive co-occurrence in this group of myopathies with cores. Finally, this report underlines the broadening spectrum in this group of myopathologic disorders and highlights the concept of 'RYR1-associated/related core myopathies'. PMID:25747005

  19. The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27

    Microsoft Academic Search

    H Veenema; N J Carpenter; E Bakker; M H Hofker; A M Ward; P L Pearson

    1987-01-01

    In a large family with the fragile X syndrome, we performed linkage investigations with six probes, detecting RFLPs at both sides of the fragile site Xq27. The nearest flanking markers were cX55.7 (DXS105) on the centromeric side (theta = 0.04, lod 5.0) and St14 (DXS52) on the telomeric side (theta = 0.08, lod 4.0). Non-penetrance could be shown by the

  20. Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

    PubMed

    Riahi, Zied; Bonnet, Crystel; Zainine, Rim; Louha, Malek; Bouyacoub, Yosra; Laroussi, Nadia; Chargui, Mariem; Kefi, Rym; Jonard, Laurence; Dorboz, Imen; Hardelin, Jean-Pierre; Salah, Sihem Belhaj; Levilliers, Jacqueline; Weil, Dominique; McElreavey, Kenneth; Boespflug, Odile Tanguy; Besbes, Ghazi; Abdelhak, Sonia; Petit, Christine

    2014-01-01

    Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profound deafness, from four unrelated consanguineous Tunisian families. Four biallelic non previously reported mutations were identified in three different genes: a nonsense mutation, c.208C>T (p.R70X), in LRTOMT, a missense mutation, c.5417T>C (p.L1806P), in MYO15A and two splice site mutations, c.7395+3G>A, and c.2260+2T>A, in MYO15A and TMC1 respectively. We thereby provide evidence that whole exome sequencing is a powerful, cost-effective screening tool to identify mutations causing recessive deafness in consanguineous families. PMID:24926664

  1. Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

    PubMed Central

    Zainine, Rim; Louha, Malek; Bouyacoub, Yosra; Laroussi, Nadia; Chargui, Mariem; Kefi, Rym; Jonard, Laurence; Dorboz, Imen; Hardelin, Jean-Pierre; Salah, Sihem Belhaj; Levilliers, Jacqueline; Weil, Dominique; McElreavey, Kenneth; Boespflug, Odile Tanguy; Besbes, Ghazi; Abdelhak, Sonia; Petit, Christine

    2014-01-01

    Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profound deafness, from four unrelated consanguineous Tunisian families. Four biallelic non previously reported mutations were identified in three different genes: a nonsense mutation, c.208C>T (p.R70X), in LRTOMT, a missense mutation, c.5417T>C (p.L1806P), in MYO15A and two splice site mutations, c.7395+3G>A, and c.2260+2T>A, in MYO15A and TMC1 respectively. We thereby provide evidence that whole exome sequencing is a powerful, cost-effective screening tool to identify mutations causing recessive deafness in consanguineous families. PMID:24926664

  2. A Comparative Analysis of Training and Development and Work-Family Education Systems in a Large Corporate Organization

    ERIC Educational Resources Information Center

    Gibson, Sharon K.

    2005-01-01

    This paper reviews the findings of a comparative analysis of two education systems in one corporate organization: training and development and work-family. Key learning features across these systems were analyzed to determine similarities and differences and to identify common concerns. The findings indicated that, although this organization…

  3. Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia

    Microsoft Academic Search

    Ryogen Sasaki; Hidenori Ichiyasu; Nobuo Ito; Teruaki Ikeda; Hiroki Takano; Takeshi Ikeuchi; Shigeki Kuzuhara; Makoto Uchino; Shoji Tsuji; Eiichiro Uyama

    1999-01-01

    We investigated the skeletal muscle voltage-gated chloride channel gene (CLCN1) in two unrelated Japanese patients with Becker's myotonia congenita. The non-myotonic parents of each patient were consanguineous. The proband of each family shares generalized myotonia, transient weakness after rest, and leg muscle hypertrophy. However, the disease severity related to the degree of myotonia differed, even in view of the response

  4. A novel CASR mutation in a Tunisian FHH\\/NSHPT family associated with a mental retardation

    Microsoft Academic Search

    Sana SfarAhlem; Ahlem Afaya Bzéouich; Emna Kerkeni; Sofiane Bouaziz; Mohamed Fadhel Najjar; Lotfi Chouchane; Kamel Monastiri

    The calcium-sensing receptor (CASR), a plasma membrane G-protein coupled receptor, is expressed in parathyroid gland and kidney,\\u000a and controls systemic calcium homeostasis. Inactivating CASR mutations have previously been identified in patients with familial hypocalciuric hypercalcemia (FHH) and neonatal severe\\u000a hyperparathyroidism (NSHPT). The aim of the present study is to determine the underlying molecular defect of FHH\\/NSHPT disease\\u000a in a consanguineous

  5. Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

    PubMed Central

    2014-01-01

    Background Genetics clearly plays a major role in the etiology of autism spectrum disorders (ASDs), but studies to date are only beginning to characterize the causal genetic variants responsible. Until recently, studies using multiple extended multi-generation families to identify ASD risk genes had not been undertaken. Methods We identified haplotypes shared among individuals with ASDs in large multiplex families, followed by targeted DNA capture and sequencing to identify potential causal variants. We also assayed the prevalence of the identified variants in a large ASD case/control population. Results We identified 584 non-conservative missense, nonsense, frameshift and splice site variants that might predispose to autism in our high-risk families. Eleven of these variants were observed to have odds ratios greater than 1.5 in a set of 1,541 unrelated children with autism and 5,785 controls. Three variants, in the RAB11FIP5, ABP1, and JMJD7-PLA2G4B genes, each were observed in a single case and not in any controls. These variants also were not seen in public sequence databases, suggesting that they may be rare causal ASD variants. Twenty-eight additional rare variants were observed only in high-risk ASD families. Collectively, these 39 variants identify 36 genes as ASD risk genes. Segregation of sequence variants and of copy number variants previously detected in these families reveals a complex pattern, with only a RAB11FIP5 variant segregating to all affected individuals in one two-generation pedigree. Some affected individuals were found to have multiple potential risk alleles, including sequence variants and copy number variants (CNVs), suggesting that the high incidence of autism in these families could be best explained by variants at multiple loci. Conclusions Our study is the first to use haplotype sharing to identify familial ASD risk loci. In total, we identified 39 variants in 36 genes that may confer a genetic risk of developing autism. The observation of 11 of these variants in unrelated ASD cases further supports their role as ASD risk variants. PMID:24467814

  6. Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

    PubMed

    Soldovieri, Maria Virginia; Boutry-Kryza, Nadia; Milh, Mathieu; Doummar, Diane; Heron, Benedicte; Bourel, Emilie; Ambrosino, Paolo; Miceli, Francesco; De Maria, Michela; Dorison, Nathalie; Auvin, Stephane; Echenne, Bernard; Oertel, Julie; Riquet, Audrey; Lambert, Laetitia; Gerard, Marion; Roubergue, Anne; Calender, Alain; Mignot, Cyril; Taglialatela, Maurizio; Lesca, Gaetan

    2014-03-01

    Mutations in the KCNQ2 and KCNQ3 genes encoding for Kv 7.2 (KCNQ2; Q2) and Kv 7.3 (KCNQ3; Q3) voltage-dependent K(+) channel subunits, respectively, cause neonatal epilepsies with wide phenotypic heterogeneity. In addition to benign familial neonatal epilepsy (BFNE), KCNQ2 mutations have been recently found in families with one or more family members with a severe outcome, including drug-resistant seizures with psychomotor retardation, electroencephalogram (EEG) suppression-burst pattern (Ohtahara syndrome), and distinct neuroradiological features, a condition that was named "KCNQ2 encephalopathy." In the present article, we describe clinical, genetic, and functional data from 17 patients/families whose electroclinical presentation was consistent with the diagnosis of BFNE. Sixteen different heterozygous mutations were found in KCNQ2, including 10 substitutions, three insertions/deletions and three large deletions. One substitution was found in KCNQ3. Most of these mutations were novel, except for four KCNQ2 substitutions that were shown to be recurrent. Electrophysiological studies in mammalian cells revealed that homomeric or heteromeric KCNQ2 and/or KCNQ3 channels carrying mutant subunits with newly found substitutions displayed reduced current densities. In addition, we describe, for the first time, that some mutations impair channel regulation by syntaxin-1A, highlighting a novel pathogenetic mechanism for KCNQ2-related epilepsies. PMID:24375629

  7. Further Evidence that Pediatric-Onset Bipolar Disorder Comorbid with ADHD Represents a Distinct Subtype: Results from a Large Controlled Family Study

    PubMed Central

    Biederman, Joseph; Faraone, Stephen V.; Petty, Carter; Martelon, MaryKate; Woodworth, K. Yvonne; Wozniak, Janet

    2012-01-01

    We used familial risk analysis to clarify the diagnostic comorbidity between pediatric BP-I disorder and ADHD, testing the hypothesis that pediatric BP-I disorder comorbid with ADHD represents a distinct subtype. Structured diagnostic interviews were used to obtain DSM-IV psychiatric diagnoses on first-degree relatives (n=726) of referred children and adolescents satisfying diagnostic criteria for BP-I disorder (n=239). For comparison, diagnostic information on the first-degree relatives (N=511) of non-bipolar ADHD children (N=162) and the first degree relatives (N=411) of control children (N=136) with neither ADHD nor BP-I disorder were examined. BP-I disorder and ADHD in probands bred true irrespective of the comorbidity with the other disorder. We also found that the comorbid condition of BP-I disorder plus ADHD also bred true in families, and the two disorders co-segregated among relatives. This large familial risk analysis provides compelling evidence that pediatric BP-I disorder comorbid with ADHD represents a distinct familial subtype. PMID:22979994

  8. Frequency of Familial Colon Cancer and Hereditary Nonpolyposis ColorectalCancer (Lynch Syndrome) in a Large Population Database

    Microsoft Academic Search

    Richard A. Kerber; Deborah W. Neklason; Wade S. Samowitz; Randall W. Burt

    2005-01-01

    Background and aims:\\u000aEstimates have been made concerning the fraction of colorectal cancer (CRC) cases that meet Amsterdam I criteria but not Amsterdam II criteria. The aim of this study was to determine in a population setting what fraction of CRC cases can be considered familial high-risk, what fraction of these meet Amsterdam I or II criteria, and what fraction

  9. Large BRCA1 and BRCA2 genomic rearrangements in Malaysian high risk breast-ovarian cancer families

    Microsoft Academic Search

    Peter Kang; Shivaani Mariapun; Sze Yee Phuah; Linda Shushan Lim; Jianjun Liu; Sook-Yee Yoon; Meow Keong Thong; Nur Aishah Mohd Taib; Cheng Har Yip; Soo-Hwang Teo

    2010-01-01

    Early studies of genetic predisposition due to the BRCA1 and BRCA2 genes have focused largely on sequence alterations, but it has now emerged that 4–28% of inherited mutations in the BRCA\\u000a genes may be due to large genomic rearrangements of these genes. However, to date, there have been relatively few studies\\u000a of large genomic rearrangements in Asian populations. We have

  10. Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

    PubMed Central

    Megarbane, A; Choueiri, R; Bleik, J; Mezzina, M; Caillaud, C

    1999-01-01

    We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed.???Keywords: autosomal recessive; cataract; consanguinity; mental retardation PMID:10465117

  11. Immunoglobulin heavy chain variable region and major histocompatibility region genes are linked to induced graves' disease in females from two very large families of recombinant inbred mice.

    PubMed

    McLachlan, Sandra M; Aliesky, Holly; Banuelos, Bianca; Magana, Jessica; Williams, Robert W; Rapoport, Basil

    2014-10-01

    Graves' hyperthyroidism is caused by antibodies to the TSH receptor (TSHR) that mimic thyroid stimulation by TSH. Stimulating TSHR antibodies and hyperthyroidism can be induced by immunizing mice with adenovirus expressing the human TSHR A-subunit. Prior analysis of induced Graves' disease in small families of recombinant inbred (RI) female mice demonstrated strong genetic control but did not resolve trait loci for TSHR antibodies or elevated serum T4. We investigated the genetic basis for induced Graves' disease in female mice of two large RI families and combined data with earlier findings to provide phenotypes for 178 genotypes. TSHR antibodies measured by inhibition of TSH binding to its receptor were highly significantly linked in the BXD set to the major histocompatibility region (chromosome 17), consistent with observations in 3 other RI families. In the LXS family, we detected linkage between T4 levels after TSHR-adenovirus immunization and the Ig heavy chain variable region (Igvh, chromosome 12). This observation is a key finding because components of the antigen binding region of Igs determine antibody specificity and have been previously linked to induced thyroid-stimulating antibodies. Data from the LXS family provide the first evidence in mice of a direct link between induced hyperthyroidism and Igvh genes. A role for major histocompatibility genes has now been established for genetic susceptibility to Graves' disease in both humans and mice. Future studies using arrays incorporating variation in the complex human Ig gene locus will be necessary to determine whether Igvh genes are also linked to Graves' disease in humans. PMID:25051451

  12. CD3G gene defects in familial autoimmune thyroiditis.

    PubMed

    Gokturk, B; Keles, S; Kirac, M; Artac, H; Tokgoz, H; Guner, S N; Caliskan, U; Caliskaner, Z; van der Burg, M; van Dongen, J; Morgan, N V; Reisli, I

    2014-11-01

    The patients with CD3? deficiency can present with different clinical findings despite having the same homozygous mutation. We report three new CD3gamma-deficient siblings from a consanguineous family with a combined T-B+NK+ immunodeficiency and their variable clinical and cellular phenotypes despite the same homozygous mutation of the CD3G gene (c.80-1G>C). We also re-evaluate a previously reported non-consanguineous family with two CD3gamma-deficient siblings with the same mutation. The median age at diagnosis was 11 years (14 months-20 years). We found all five patients to display autoimmunity: autoimmune thyroiditis (n = 5), autoimmune haemolytic anaemia (n = 2), immune thrombocytopenia (n = 1), autoimmune hepatitis (n = 1), minimal change nephrotic syndrome (n = 1), vitiligo (n = 1) and positive antinuclear antibodies (n = 3) as well as high IgE (n = 2) and atopic eczema (n = 2). While CD3(+) TCR??+T cell percentages were low in all patients, only one had lymphopenia and 3 had CD3(+) T cell lymphopenia. Strikingly, we report frequent and multiple autoimmunity in tested heterozygous carriers in both families (n = 6; in 67%), and frequent autoimmunity in family members not available for testing (n = 5, in 80%). The results suggest that CD3G should be studied as a candidate gene for autoimmunity and that CD3gamma deficiency should be considered among other primary immunodeficiencies with predominantly autoimmune manifestations. PMID:24910257

  13. First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer

    PubMed Central

    2014-01-01

    Background CHEK2 is a multi-cancer susceptibility gene whose common germline mutations are known to contribute to the risk of developing breast and prostate cancer. Case presentation Here, we describe an Italian family with a high number of cases of breast cancer and other types of tumour subjected to the MLPA test to verify the presence of BRCA1, BRCA2 and CHEK2 deletions and duplications. We identified a new 23-kb duplication in the CHEK2 gene extending from intron 5 to 13 that was associated with breast cancer in the family. The presence and localisation of the alteration was confirmed by a second analysis by Next-Generation Sequencing. Conclusions This finding suggests that CHEK2 mutations are heterogeneous and that techniques other than sequencing, such as MLPA, are needed to identify CHEK2 mutations. It also indicates that CHEK2 rare variants, such as duplications, can confer a high susceptibility to cancer development and should thus be studied in depth as most of our knowledge of CHEK2 concerns common mutations. PMID:24986639

  14. Screening for large rearrangements of the BRCA2 gene in Spanish families with breast\\/ovarian cancer

    Microsoft Academic Search

    Sara Gutiérrez-Enríquez; Miguel de La Hoya; Cristina Martínez-Bouzas; Ana Sanchez de Abajo; Teresa Ramón y Cajal; Gemma Llort; Ignacio Blanco; Elena Beristain; Eduardo Díaz-Rubio; Carmen Alonso; María-Isabel Tejada; Trinidad Caldés; Orland Diez

    2007-01-01

    Germ-line mutations in BRCA1 and BRCA2 are responsible for about 30–60% of the hereditary breast and ovarian cancer (HBOC). A large number of point mutations have\\u000a been described in both genes. However, large deletions and duplications that disrupt one or more exons are overlooked by point\\u000a mutation detection approaches. Over the past years several rearrangements have been identified in BRCA1,

  15. Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families

    Microsoft Academic Search

    Thomas v. O. Hansen; Lars Jønson; Anders Albrechtsen; Mette K. Andersen; Bent Ejlertsen; Finn C. Nielsen

    2009-01-01

    BRCA1 and BRCA2 germ-line mutations predispose to breast and ovarian cancer. Large genomic rearrangements of BRCA1 account for 0–36% of all disease causing mutations in various populations, while large genomic rearrangements in BRCA2 are more rare. We examined 642 East Danish breast and\\/or ovarian cancer patients in whom a deleterious mutation in BRCA1 and BRCA2 was not detected by sequencing

  16. Two female siblings with West syndrome: Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression.

    PubMed

    Caglayan, Ahmet Okay; Gumus, Hakan; Kato, Mitsuhiro

    2010-07-01

    The West syndrome (WS) is a characteristic form of epilepsy which usually begins in the first year of life. We describe two female siblings, aged 4 and 2 years, respectively, born from third degree consanguineous parents, with infantile spasms and developmental delay. Epileptic spasms had not a good outcome under antiepileptic drug treatment. Clinical and imaging features were of different severity in both siblings. Routine biochemical tests, metabolic investigations, and chromosomal analysis were normal. We analyzed CDKL5 gene by direct sequences and denaturing high-performance liquid chromatography using Transgenomic WAVE system. Analysis of the CDKL5 gene, which is responsible for female patient with WS, did not show any disease-causing mutation. WS has heterogeneous backgrounds, and may be more than one gene is responsible for its familial forms. In this family, consanguinity is observed in parents, which usually suggests that autosomal recessive inheritance is likely. PMID:21559165

  17. Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

    PubMed Central

    2014-01-01

    Background Long QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing mutations have been identified in 13 genes, all of which encode proteins involved in the execution of the cardiac action potential. The most frequently affected genes, covering?>?90% of cases, are KCNQ1, KCNH2 and SCN5A. Methods We describe 64 different mutations in 70 unrelated Danish families using a routine five-gene screen, comprising KCNQ1, KCNH2 and SCN5A as well as KCNE1 and KCNE2. Results Twenty-two mutations were found in KCNQ1, 28 in KCNH2, 9 in SCN5A, 3 in KCNE1 and 2 in KCNE2. Twenty-six of these have only been described in the Danish population and 18 are novel. One double heterozygote (1.4% of families) was found. A founder mutation, p.F29L in KCNH2, was identified in 5 “unrelated” families. Disease association, in 31.2% of cases, was based on the type of mutation identified (nonsense, insertion/deletion, frameshift or splice-site). Functional data was available for 22.7% of the missense mutations. None of the mutations were found in 364 Danish alleles and only three, all functionally characterised, were recorded in the Exome Variation Server, albeit at a frequency of?large founder family with p.F29L in KCNH2 was identified. In 48.4% of the mutations disease causation was based on mutation type or functional analysis. PMID:24606995

  18. Large magnetoelectric effect in the Al1-xGaxFeO3 family of multiferroic Oxides

    Microsoft Academic Search

    Ajmala Shireen; Rana Saha; A. Sundaresan; C. N. R. Rao

    2010-01-01

    AlFeO3, GaFeO3 and Al0.5Ga0.5FeO3, all crystallizing in a non-centrosymmetric space group, are multiferroic and also exhibit magnetoelectric properties, with Al0.5Ga0.5FeO3 showing unusually large magnetocapacitance at 300 K.

  19. A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

    PubMed

    Maslen, C; Babcock, D; Raghunath, M; Steinmann, B

    1997-06-01

    Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to but genetically distinct from Marfan syndrome. Genetic-linkage analysis has implicated the fibrillin-2 gene (FBN2) as the CCA locus. Mutation analysis of two isolated CCA patients revealed missense mutations, indicating that defects in FBN2 may be responsible for this disorder. However, cosegregation of a mutant allele with the disease phenotype has not yet been established. We have investigated the primary cause of CCA in a large well-characterized kindred with five generations comprising 18 affected individuals. Previous studies demonstrated linkage of this family's CCA phenotype to FBN2. Mutation analysis of cDNA derived from the proband and her affected brother, using a nonisotopic RNase cleavage assay, revealed the partial skipping of exon 31. Approximately 25% mutant transcript is produced, which is apparently sufficient to cause a CCA phenotype. Sequence analysis of genomic DNA revealed an unusual base composition for intron 30 and identified the mutation, a g-26t transversion, in the vicinity of the splicing branch-point site in intron 30. Genomic DNA from 30 additional family members, both affected and unaffected, then was analyzed for the mutation. The results clearly demonstrate cosegregation of the branch-point mutation with the CCA phenotype. This is the first report of a CCA mutation in a multiplex family, unequivocally establishing that mutation in FBN2 are responsible for the CCA phenotype. In addition, branch-point mutations only very rarely have been associated with human disease, suggesting that the unusual composition of this intron influences splicing stability. PMID:9199560

  20. Evidence for a major susceptibility locus at 11q22.1-23.3 has been detected in a large Chinese family with pure grand mal epilepsy.

    PubMed

    Yang, Mao Sheng; Wang, Xue Feng; Qin, Wei; Feng, Guo Yin; He, Lin

    2003-08-01

    Pure grand mal epilepsy (PGME) is a common subtype of idiopathic generalized epilepsy (IGE) with an unclear mode of inheritance. Several studies with the multiple families have provided evidence for the disorder to be linked to chromosome 8q24 and 8p. In this work, we performed an autosomal-wide scan linkage analysis using microsatellite markers in a large Chinese family with PGME and found seven markers with likelihood of odds (LOD), scores >/=1.0 (theta=0) in chromosome 11q22.1-23.3. The highest LOD score for two-point and multi-point linkage analysis are 1.99 (theta=0) at marker D11S4159 and 2.18 between markers D11S1782 and D11S3178, respectively, which reached the level of a suggested positive linkage LOD score (Z>/=1.9), under an autosomal dominant manner of inheritance with a penetrance of 65% but no significant positive LOD score (Z>/=3.3) was found after high density of microsatellite markers used in the regions. Obviously, our data do not support the linkage of the disease to chromosome 8q24 and 8p but implicate that chromosome 11q22.1-23.3 may be a new locus linked to PGME, which indicates the existence of genetic heterogeneity in the disorder. PMID:12853102

  1. Members of the glutathione and ABC-transporter families are associated with clinical outcome in patients with diffuse large B-cell lymphoma

    PubMed Central

    Gimotty, Phyllis A.; Wahl, Peter; Hammond, Rachel; Houldsworth, Jane; Schuster, Stephen J.; Rebbeck, Timothy R.

    2007-01-01

    Standard chemotherapy fails in 40% to 50% of patients with diffuse large B-cell lymphoma (DLBCL). Some of these failures can be salvaged with high-dose regimens, suggesting a role for drug resistance in this disease. We examined the expression of genes in the glutathione (GSH) and ATP-dependent transporter (ABC) families in 2 independent tissue-based expression microarray datasets obtained prior to therapy from patients with DLBCL. Among genes in the GSH family, glutathione peroxidase 1 (GPX1) had the most significant adverse effect on disease-specific overall survival (dOS) in the primary dataset (n = 130) (HR: 1.68; 95% CI: 1.26-2.22; P < .001). This effect remained statistically significant after controlling for biologic signature, LLMPP cell-of-origin signature, and IPI score, and was confirmed in the validation dataset (n = 39) (HR: 1.7; 95% CI: 1.05-2.8; P = .033). Recursive partitioning identified a group of patients with low-level expression of GPX1 and multidrug resistance 1 (MDR1; ABCB1) without early treatment failures and with superior dOS (P < .001). Overall, our findings suggest an important association of oxidative-stress defense and drug elimination with treatment failure in DLBCL and identify GPX1 and ABCB1 as potentially powerful biomarkers of early failure and disease-specific survival. PMID:17179223

  2. Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.

    PubMed

    Pathak, Anand; Pemov, Alexander; McMaster, Mary L; Dewan, Ramita; Ravichandran, Sarangan; Pak, Evgenia; Dutra, Amalia; Lee, Hyo Jung; Vogt, Aurelie; Zhang, Xijun; Yeager, Meredith; Anderson, Stacie; Kirby, Martha; Caporaso, Neil; Greene, Mark H; Goldin, Lynn R; Stewart, Douglas R

    2015-07-01

    Juvenile myelomonocytic leukemia (JMML) is a pediatric myeloproliferative neoplasm that arises from malignant transformation of the stem cell compartment and results in increased production of myeloid cells. Somatic and germline variants in CBL (Casitas B-lineage lymphoma proto-oncogene) have been associated with JMML. We report an incompletely penetrant CBL Y371C mutation discovered by whole-exome sequencing in three individuals with JMML in a large pedigree with 35 years of follow-up. The Y371 residue is highly evolutionarily conserved among CBL orthologs and paralogs. In silico bioinformatics prediction programs suggested that the Y371C mutation is highly deleterious. Protein structural modeling revealed that the Y371C mutation abrogated the ability of the CBL protein to adopt a conformation that is required for ubiquitination. Clinically, the three mutation-positive JMML individuals exhibited variable clinical courses; in two out of three, primary hematologic abnormalities persisted into adulthood with minimal clinical symptoms. The penetrance of the CBL Y371C mutation was 30 % for JMML and 40 % for all leukemia. Of the 8 mutation carriers in the family with available photographs, only one had significant dysmorphic features; we found no evidence of a clinical phenotype consistent with a "CBL syndrome". Although CBL Y371C has been previously reported in familial JMML, we are the first group to follow a complete pedigree harboring this mutation for an extended period, revealing additional information about this variant's penetrance, function and natural history. PMID:25939664

  3. A novel transthyretin variant p.H110D (H90D) as a cause of familial amyloid polyneuropathy in a large Irish kindred.

    PubMed

    Jimenez-Zepeda, Victor H; Bahlis, Nizar J; Gilbertson, Janet; Rendell, Nigel; Porcari, Riccardo; Lachmann, Helen J; Gillmore, Julian D; Hawkins, Philip N; Rowczenio, Dorota M

    2015-03-01

    Hereditary transthyretin (ATTR) amyloidosis is caused by inheritance of an abnormal TTR gene in an autosomal dominant fashion. In its native state, TTR is a homotetramer consisting of four identical polypeptides. Mutations in the TTR gene contribute to destabilization and dissociation of the TTR tetramer, enabling abnormally folded monomers to self-assemble as amyloid fibrils. Currently, over 120 TTR variants have been described, with varying geographic distributions, degrees of amyloidogenicity and organ involvement. We report here a large Irish family with familial amyloid polyneuropathy (FAP), consisting of multiple affected generations, caused by a novel TTR mutation; p.H110D (H90D). The demonstration, by immunohistochemistry and laser micro dissection-mass spectrometry (LMD/MS) that the amyloid fibrils were composed of TTR, in conjunction with a typical FAP phenotype, indicates that the novel TTR mutation was the cause of amyloidosis. We used a molecular visualization tool PyMOL to analyze the effect of the p.H110D (H90D) replacement on the stability of the TTR molecule. Our data suggest that the loss of two hydrogen bonds and the presence of an additional negative charge in the core of a cluster of acidic residues significantly perturb the tetramer stability and likely contribute to the pathogenic role of this variant. PMID:25430583

  4. Correlated Si isotope anomalies and large 13C enrichments in a family of exotic SiC grains.

    PubMed

    Stone, J; Hutcheon, I D; Epstein, S; Wasserburg, G J

    1991-01-01

    A suite of morphologically distinctive silicon carbide (SiC) grains from the Orgueil and Murchison carbonaceous chondrite meteorites contains Si and C of highly anomalous isotopic composition. All of the SiC grains in this suite are characterized by a distinctive platy morphology and roughly developed hexagonal crystal forms that allow them to be distinguished from other types of SiC found in the host meteorites. The delta 29Si and delta 30Si values of individual SiC crystals deviate from those of normal solar material by more than 100%, while the delta 13C values range from 150 to 5200%. Isotopically normal C and Si are not found in any of these SiC crystals. The SiC grains belonging to this morphological suite are isotopically distinct from fine-grained SiC aggregates and other morphological types of SiC in unequilibrated meteorites. The 29Si/28Si and 30Si/28Si ratios of these platy grains are well correlated and define a linear array that does not pass through the composition of normal, solar Si. This behavior contrasts sharply with the diverse and poorly correlated Si isotopic compositions shown by the total SiC population. We suggest that the distinctive morphological characteristics and comparatively simple Si isotope systematics identify the platy SiC crystals as a genetically related family, formed around a single, isotopically heterogeneous presolar star or an association of related stars. The enrichments in 13C and the Si isotope systematics of the platy SiC are broadly consistent with theoretical models of nucleosynthesis in low-mass, carbon stars on the asymptotic giant branch. The Si isotope array most plausibly reflects mixing between 28Si-rich material, inherited from a previous generation of stars, and material enriched in 29Si and 30Si, produced in intershell regions by neutron capture during He-burning. 13C is also produced in intershell regions by proton reactions on 12C seed nuclei and is carried with s-process nuclei to the stellar envelope by convection which penetrates down to the He shell. The absence of a correlation between the Si and C isotopic compositions of the SiC suggests either episodic condensation of SiC, extending over several thermal pulses, in the atmosphere of a single star, or derivation of the SiC from several stars characterized by different rates of 13C production. In the multiple star scenario, the linear correlation of the 29Si/28Si and 30Si/28Si ratios among the platy SiC indicates that these stars evolved from a common Si seed composition under similar conditions of neutron-capture nucleosynthesis. The 29Si/30Si ratio of the SiC, inferred by us to be produced by neutron capture in the stellar interior, is distinct from values calculated from models of nucleosynthesis in AGB stars. PMID:11538380

  5. A large inversion in the linear chromosome of Streptomyces griseus caused by replicative transposition of a new Tn3 family transposon.

    PubMed

    Murata, M; Uchida, T; Yang, Y; Lezhava, A; Kinashi, H

    2011-04-01

    We have comprehensively analyzed the linear chromosomes of Streptomyces griseus mutants constructed and kept in our laboratory. During this study, macrorestriction analysis of AseI and DraI fragments of mutant 402-2 suggested a large chromosomal inversion. The junctions of chromosomal inversion were cloned and sequenced and compared with the corresponding target sequences in the parent strain 2247. Consequently, a transposon-involved mechanism was revealed. Namely, a transposon originally located at the left target site was replicatively transposed to the right target site in an inverted direction, which generated a second copy and at the same time caused a 2.5-Mb chromosomal inversion. The involved transposon named TnSGR was grouped into a new subfamily of the resolvase-encoding Tn3 family transposons based on its gene organization. At the end, terminal diversity of S. griseus chromosomes is discussed by comparing the sequences of strains 2247 and IFO13350. PMID:21234748

  6. Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 EPH families using 15 polymorphic loci in the region 5q11. 2-q13. 3

    SciTech Connect

    Wirth, B.; Pick, E.; Leutner, A.; Dadze, A.; Voosen, B.; Piechaczek-Wappenschmidt, B.; Rudnik-Schoeneborn, S.; Schoenling, J.; Zerres, K. (Institute of Human Genetics, Bonn (Germany)); Knapp, M. (Institute of Medical Statistics, Bonn (Germany)) (and others)

    1994-03-01

    The autosomal recessive proximal spinal muscular atrophy (SMA) gene was mapped to the region 5q11.2-q.13.3 in 1990. Here, the authors present a large genetic linkage study of 100 SMA families and 11 CEPH families using 14 polymorphic simple sequence repeats (SSRs) and one RFLP in the region 5q11.2-q.13.3. The genetic interval between the closest SMA flanking loci D5S435 and D5S557 comprises 1 cM at z[sub max] = 27.94. Two recombinants were identified between the SMA gene and the closest telomeric marker D5S557. The first places the SMA gene centromeric to this marker; the second suggests a double recombinant at D5S557, which is very unlikely. More likely explanations are discussed in the paper. No recombinant was found between D5S435 and the SMA gene. They localized a recently described polymorphic marker, D5S351, close to the SMA. Due to its high PIC value of 0.70, it represents a very useful marker for prenatal diagnosis. In addition, they developed a new reverse primer for the nearest centromeric locus D5S435, a useful marker for prenatal diagnosis, which has been very difficult to amplify in the past. Three of the markers presented here are newly developed polymorphic SSRs (one tetranucleotide repeat, D5s507/W15CATT, and two dinucleotide repeats, D5S544/C88.2GT and D5S682/C88.3GT). These markers are too far from the SMA gene to be relevant for cloning; nevertheless, as part of the human genome project, they are contributing to the fine genetic mapping of the region 5q11.2-q.13.3. The most likely order of the loci based on two-point and multipoint linkage analyses as well as on specific recombination events and physical mapping studies is D5S76-D5S507-D5S6-D5S125-D5S680-D5S435-SMA-D5S557-D5S35 -15[prime]MAP1B-3[prime]MAP1B-JK53CA1/2-(D5S127-D5S39)-(D5S544-D5S682). In general, the genetic distances obtained from the SMA and CEPH families are comparable. 25 refs., 4 figs., 5 tabs.

  7. Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

    PubMed

    Nal, Nevra; Ahmed, Zubair M; Erkal, Engin; Alper, Ozgül M; Lüleci, Güven; Dinç, Oktay; Waryah, Ali Muhammad; Ain, Quratul; Tasneem, Saba; Husnain, Tayyab; Chattaraj, Parna; Riazuddin, Saima; Boger, Erich; Ghosh, Manju; Kabra, Madhulika; Riazuddin, Sheikh; Morell, Robert J; Friedman, Thomas B

    2007-10-01

    Human MYO15A is located on chromosome 17p11.2, has 66 exons and encodes unconventional myosin XVA. Recessive mutations of MYO15A are associated with profound, nonsyndromic hearing loss DFNB3 in humans, and deafness and circling behavior in shaker 2 mice. In the inner ear, this motor protein is necessary for the development of hair cell stereocilia, which are actin-filled projections on the apical surface and the site of mechanotransduction of sound. The longest isoform of myosin XVA has 3,530 amino acid residues. Two isoform classes of MYO15A are distinguished by the presence or absence of 1,203 residues preceding the motor domain encoded by alternatively-spliced exon 2. It is not known whether this large N-terminal extension of myosin XVA is functionally necessary for hearing. We ascertained approximately 600 consanguineous families segregating hereditary hearing loss as a recessive trait and found evidence of linkage of markers at the DFNB3 locus to hearing loss in 38 of these families ascertained in Pakistan (n=30), India (n=6), and Turkey (n=2). In this study, we describe 16 novel recessive mutations of MYO15A associated with severe to profound hearing loss segregating in 20 of these DFNB3-linked families. Importantly, two homozygous mutant alleles-c.3313G>T (p.E1105X) and c.3334delG (p.G1112fsX1124) of MYO15A-located in exon 2 are associated with severe to profound hearing loss segregating in two families. These data demonstrate that isoform 1, containing the large N-terminal extension, is also necessary for normal hearing. PMID:17546645

  8. Family Violence: Intervention Strategies.

    ERIC Educational Resources Information Center

    Barnett, Ellen R.; And Others

    Problems related to family violence are complex and multi-faceted and involve large numbers of people in this country. A number of types of violence in families are identified initially; however, the manual focuses on the concerns of battered women, or interspousal abuse. Information focuses on: (1) the nature, causes and effects of family

  9. Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

    Microsoft Academic Search

    Lia Abbasi Moheb; Andreas Tzschach; Masoud Garshasbi; Kimia Kahrizi; Hossein Darvish; Yaser Heshmati; Alireza Kordi; Hossein Najmabadi; Hans Hilger Ropers; Andreas Walter Kuss

    2008-01-01

    We have investigated a consanguineous Iranian family with eight patients who suffer from mental retardation, disturbed equilibrium, walking disability, strabismus and short stature. By autozygosity mapping we identified one region with a significant LOD score on chromosome 9(p24.2–24.3). The interval contains the VLDLR gene, which codes for the very low-density lipoprotein receptor. This protein is part of the reelin signalling

  10. Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal a-N-acetyl-neuraminidase (sialidase) gene

    Microsoft Academic Search

    Consolato Sergi; Roland Penzel; Johannes Uhl; Saida Zoubaa; Heike Dietrich; Nadja Decker; Peter Rieger; Juergen Kopitz; Herwart F. Otto; Marika Kiessling; Michael Cantz

    2001-01-01

    We report a Turkish family with parental consanguinity and at risk for sialidosis type II, an inherited autosomal recessive disorder caused by lysosomal alpha-N-acetyl-neuraminidase (sialidase, NEU1) deficiency. The proband was a premature male infant that presented with hydrops, hepatomegaly, respiratory distress syndrome, and anemia and that died of respiratory insufficiency 2 months after birth despite intensive care. An abnormally increased

  11. Targeted Next-Generation Sequencing in Uyghur Families with Non-Syndromic Sensorineural Hearing Loss

    PubMed Central

    Chen, Ying; Wang, Zhentao; Wang, Zhaoyan; Chen, Dongye; Chai, Yongchuan; Pang, Xiuhong; Sun, Lianhua; Wang, Xiaowen; Yang, Tao; Wu, Hao

    2015-01-01

    The mutation spectrum of deafness genes may vary in different ethnical groups. In this study, we investigated the genetic etiology of nonsyndromic deafness in four consanguineous and two multiplex Uyghur families in which mutations in common deafness genes GJB2, SLC26A4 and MT-RNR1 were excluded. Targeted next-generation sequencing of 97 deafness genes was performed in the probands of each family. Novel pathogenic mutations were identified in four probands including the p.L416R/p.A438T compound heterozygous mutations in TMC1, the homozygous p.V1880E mutation in MYO7A, c.1238delT frameshifting deletion in PCDH15 and c.9690+1G>A splice site mutation in MYO15A. Co-segregation of the mutations and the deafness were confirmed within each family by Sanger sequencing. No pathogenic mutations were identified in one multiplex family and one consanguineous family. Our study provided a useful piece of information for the genetic etiology of deafness in Uyghurs. PMID:26011067

  12. Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

    PubMed Central

    Rokach, Ori; Becker Cohen, Michal; Fellig, Yakov; Straussberg, Rachel; Dor, Talya; Daana, Muhannad; Mitrani-Rosenbaum, Stella; Nevo, Yoram

    2013-01-01

    We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle weakness. Absence of cores was noted in all patients. Genome wide linkage analysis revealed a single locus on chromosome 19q13 with Zmax?=?3.86 at ??=?0.0 and homozygosity of the polymorphic markers at this locus in patients. Direct sequencing of the main candidate gene within the candidate region, RYR1, was performed. A novel homozygous A to G nucleotide substitution (p.Y3016C) within exon 60 of the RYR1 gene was found in patients. ARMS PCR was used to screen for the mutation in all available family members and in an additional 150 healthy individuals. This procedure confirmed sequence analysis and did not reveal the A to G mutation (p.Y3016C) in 300 chromosomes from healthy individuals. Functional analysis on EBV immortalized cell lines showed no effect of the mutation on RyR1 pharmacological activation or the content of intracellular Ca2+ stores. Western blot analysis demonstrated a significant reduction of the RyR1 protein in the patient’s muscle concomitant with a reduction of the DHPR?1.1 protein. This novel mutation resulting in RyR1 protein decrease causes heterogeneous clinical presentation, including slow progression course and absence of centrally localized cores on muscle biopsy. We suggest that RYR1 related myopathy should be considered in a wide variety of clinical and pathological presentation in childhood myopathies. PMID:23894444

  13. Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

    PubMed

    Attali, Ruben; Aharoni, Sharon; Treves, Susan; Rokach, Ori; Becker Cohen, Michal; Fellig, Yakov; Straussberg, Rachel; Dor, Talya; Daana, Muhannad; Mitrani-Rosenbaum, Stella; Nevo, Yoram

    2013-01-01

    We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle weakness. Absence of cores was noted in all patients. Genome wide linkage analysis revealed a single locus on chromosome 19q13 with Zmax?=?3.86 at ??=?0.0 and homozygosity of the polymorphic markers at this locus in patients. Direct sequencing of the main candidate gene within the candidate region, RYR1, was performed. A novel homozygous A to G nucleotide substitution (p.Y3016C) within exon 60 of the RYR1 gene was found in patients. ARMS PCR was used to screen for the mutation in all available family members and in an additional 150 healthy individuals. This procedure confirmed sequence analysis and did not reveal the A to G mutation (p.Y3016C) in 300 chromosomes from healthy individuals. Functional analysis on EBV immortalized cell lines showed no effect of the mutation on RyR1 pharmacological activation or the content of intracellular Ca(2+) stores. Western blot analysis demonstrated a significant reduction of the RyR1 protein in the patient's muscle concomitant with a reduction of the DHPR?1.1 protein. This novel mutation resulting in RyR1 protein decrease causes heterogeneous clinical presentation, including slow progression course and absence of centrally localized cores on muscle biopsy. We suggest that RYR1 related myopathy should be considered in a wide variety of clinical and pathological presentation in childhood myopathies. PMID:23894444

  14. Crizotinib (PF-2341066) induces apoptosis due to downregulation of pSTAT3 and BCL-2 family proteins in NPM-ALK+ anaplastic large cell lymphoma

    PubMed Central

    Hamedani, Farid Saei; Cinar, Munevver; Mo, Zhicheng; Cervania, Melissa A.; Amin, Hesham M.; Alkan, Serhan

    2015-01-01

    Nucleophosmin-anaplastic lymphoma kinase (NPM-ALK) is an aberrant fusion gene product with tyrosine kinase activity and is expressed in substantial subset of anaplastic large cell lymphomas (ALCL). It has been shown that NPM-ALK binds to and activates signal transducer and activator of transcription 3 (STAT3). Although NPM-ALK+ ALCL overall shows a better prognosis, there is a sub-group of patients who relapses and is resistant to conventional chemotherapeutic regimens. NPM-ALK is a potential target for small molecule kinase inhibitors. Crizotinib (PF-2341066) is a small, orally bioavailable molecule that inhibits growth of tumors with ALK activity as shown in a subgroup of non-small lung cancer patients with EML4-ALK expression. In this study, we have investigated the in vitro effects of Crizotinib in ALCL cell line with NPM-ALK fusion. Crizotinib induced marked downregulation of STAT3 phosphorylation, which was associated with significant apoptotic cell death. Apoptosis induction was attributed to caspase-3 cleavage and marked downregulation of the Bcl-2 family of proteins including MCL-1. These findings implicate that Crizotinib has excellent potential to treat patients with NPM-ALK+ ALCL through induction of apoptotic cell death and downregulation of major oncogenic proteins in this aggressive lymphoma. PMID:24486291

  15. Familial CD3+ T large granular lymphocyte leukemia: evidence that genetic predisposition and antigen selection promote clonal cytotoxic T-cell responses.

    PubMed

    Stalika, Evangelia; Papalexandri, Apostolia; Iskas, Michalis; Stavroyianni, Niki; Kanellis, George; Kotta, Konstantina; Pontikoglou, Charalambos; Siorenta, Alexandra; Anagnostopoulos, Achilles; Papadaki, Helen; Papadaki, Theodora; Stamatopoulos, Kostas

    2014-08-01

    CD3+ T-large granular lymphocyte (T-LGL) proliferations often present with cytopenias and splenomegaly and are linked to autoimmunity, especially rheumatoid arthritis and Felty's syndrome. We report here the intra-family occurrence of T-LGL leukemia in a father and son, both presenting with cytopenias and splenomegaly. Both patients carried the HLA-DRB1*04 allele, strongly associated with rheumatoid arthritis and Felty's syndrome, exhibited distinctive histopathological features suggestive of immune-mediated suppression of hematopoiesis and expressed a remarkably skewed T-cell receptor beta chain gene repertoire with overtime evolution (clonal drift). Immunoinformatics analysis and comparisons with clonotype sequences from various entities revealed (quasi)identities between (i) father and son, and (ii) father or son and patients with autoimmune disorders, T-LGL leukemia or chronic idiopathic neutropenia. Altogether, our results further corroborate antigen selection in the ontogeny of T-LGL leukemia and point to the interplay between genetics and the (micro)environment in shaping the outcome of cytotoxic T cell responses. PMID:24180333

  16. A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

    PubMed Central

    Guéguen, Paul; Rouault, Karen; Chen, Jian-Min; Raguénès, Odile; Fichou, Yann; Hardy, Elisabeth; Gobin, Eric; Pan-petesch, Brigitte; Kerbiriou, Mathieu; Trouvé, Pascal; Marcorelles, Pascale; Abgrall, Jean-francois; Le Maréchal, Cédric; Férec, Claude

    2013-01-01

    Inherited thrombocytopenia is a heterogeneous group of disorders characterized by a reduced number of blood platelets. Despite the identification of nearly 20 causative genes in the past decade, approximately half of all subjects with inherited thrombocytopenia still remain unexplained in terms of the underlying pathogenic mechanisms. Here we report a six-generation French pedigree with an autosomal dominant mode of inheritance and the identification of its genetic basis. Of the 55 subjects available for analysis, 26 were diagnosed with isolated macrothrombocytopenia. Genome-wide linkage analysis mapped a 10.9 Mb locus to chromosome 14 (14q22) with a LOD score of 7.6. Candidate gene analysis complemented by targeted next-generation sequencing identified a missense mutation (c.137GA; p.Arg46Gln) in the alpha-actinin 1 gene (ACTN1) that segregated with macrothrombocytopenia in this large pedigree. The missense mutation occurred within actin-binding domain of alpha-actinin 1, a functionally critical domain that crosslinks actin filaments into bundles. The evaluation of cultured mutation-harboring megakaryocytes by electron microscopy and the immunofluorescence examination of transfected COS-7 cells suggested that the mutation causes disorganization of the cellular cytoplasm. Our study concurred with a recently published whole-exome sequence analysis of six small Japanese families with congenital macrothrombocytopenia, adding ACTN1 to the growing list of thrombocytopenia genes. PMID:24069336

  17. Human KZNF Gene Catalog - A comprehensive catalog of human KRAB-associated zinc finger genes: insights into the evolutionary history of a large family of transcriptional repressors

    DOE Data Explorer

    Huntley, S; Baggott, D. M.; Hamilton, A. T.; Tran-Gyamfi, M.; Yang, S.; Kim, J.; Gordon, L.; Branscomb, E.; Stubbs, L.

    Kruppel-type zinc finger (ZNF) motifs are prevalent components of transcription factor proteins in all eukaryotes. KRAB-ZNF proteins, in which a potent repressor domain is attached to a tandem array of DNA-binding zinc-finger motifs, are specific to tetrapod vertebrates and represent the largest class of ZNF proteins in mammals. To define the full repertoire of human KRAB-ZNF proteins, we searched the genome sequence for key motifs and then constructed and manually curated gene models incorporating those sequences. The resulting gene catalog contains 423 KRAB-ZNF protein-coding loci, yielding alternative transcripts that altogether predict at least 742 structurally distinct proteins. Active rounds of segmental duplication, involving single genes or larger regions and including both tandem and distributed duplication events, have driven the expansion of this mammalian gene family. Comparisons between the human genes and ZNF loci mined from the draft mouse, dog, and chimpanzee genomes not only identified 103 KRAB-ZNF genes that are conserved in mammals but also highlighted a substantial level of lineage-specific change; at least 136 KRAB-ZNF coding genes are primate specific, including many recent duplicates. KRAB-ZNF genes are widely expressed and clustered genes are typically not coregulated, indicating that paralogs have evolved to fill roles in many different biological processes. To facilitate further study, we have developed a Web-based public resource with access to gene models, sequences, and other data, including visualization tools to provide genomic context and interaction with other public data sets. [This abstract was copied from: S Huntley, DM Baggott, AT Hamilton, M Tran-Gyamfi, S Yang, J Kim, L Gordon, E Branscomb, and L Stubbs. 2006. A comprehensive catalog of human KRAB-associated zinc finger genes: insights into the evolutionary history of a large family of transcriptional repressors, Genome Research 16(5):669 - 677] The website provides the ability to search the online catalog by genomic coordinates, name, locus type, and motifs, to utilize a graphical browser and to download data files.

  18. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

    PubMed

    Azzedine, H; Bolino, A; Taïeb, T; Birouk, N; Di Duca, M; Bouhouche, A; Benamou, S; Mrabet, A; Hammadouche, T; Chkili, T; Gouider, R; Ravazzolo, R; Brice, A; Laporte, J; LeGuern, E

    2003-05-01

    Charcot-Marie-Tooth disease (CMT) with autosomal recessive (AR) inheritance is a heterogeneous group of inherited motor and sensory neuropathies. In some families from Japan and Brazil, a demyelinating CMT, mainly characterized by the presence of myelin outfoldings on nerve biopsies, cosegregated as an autosomal recessive trait with early-onset glaucoma. We identified two such large consanguineous families from Tunisia and Morocco with ages at onset ranging from 2 to 15 years. We mapped this syndrome to chromosome 11p15, in a 4.6-cM region overlapping the locus for an isolated demyelinating ARCMT (CMT4B2). In these two families, we identified two different nonsense mutations in the myotubularin-related 13 gene, MTMR13. The MTMR protein family includes proteins with a phosphoinositide phosphatase activity, as well as proteins in which key catalytic residues are missing and that are thus called "pseudophosphatases." MTM1, the first identified member of this family, and MTMR2 are responsible for X-linked myotubular myopathy and Charcot-Marie-Tooth disease type 4B1, an isolated peripheral neuropathy with myelin outfoldings, respectively. Both encode active phosphatases. It is striking to note that mutations in MTMR13 also cause peripheral neuropathy with myelin outfoldings, although it belongs to a pseudophosphatase subgroup, since its closest homologue is MTMR5/Sbf1. This is the first human disease caused by mutation in a pseudophosphatase, emphasizing the important function of these putatively inactive enzymes. MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork, which permits the outflow of the aqueous humor. Both of these tissues have the same embryonic origin. PMID:12687498

  19. Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

    PubMed Central

    Azzedine, H.; Bolino, A.; Taïeb, T.; Birouk, N.; Di Duca, M.; Bouhouche, A.; Benamou, S.; Mrabet, A.; Hammadouche, T.; Chkili, T.; Gouider, R.; Ravazzolo, R.; Brice, A.; Laporte, J.; LeGuern, E.

    2003-01-01

    Charcot-Marie-Tooth disease (CMT) with autosomal recessive (AR) inheritance is a heterogeneous group of inherited motor and sensory neuropathies. In some families from Japan and Brazil, a demyelinating CMT, mainly characterized by the presence of myelin outfoldings on nerve biopsies, cosegregated as an autosomal recessive trait with early-onset glaucoma. We identified two such large consanguineous families from Tunisia and Morocco with ages at onset ranging from 2 to 15 years. We mapped this syndrome to chromosome 11p15, in a 4.6-cM region overlapping the locus for an isolated demyelinating ARCMT (CMT4B2). In these two families, we identified two different nonsense mutations in the myotubularin-related 13 gene, MTMR13. The MTMR protein family includes proteins with a phosphoinositide phosphatase activity, as well as proteins in which key catalytic residues are missing and that are thus called “pseudophosphatases.” MTM1, the first identified member of this family, and MTMR2 are responsible for X-linked myotubular myopathy and Charcot-Marie-Tooth disease type 4B1, an isolated peripheral neuropathy with myelin outfoldings, respectively. Both encode active phosphatases. It is striking to note that mutations in MTMR13 also cause peripheral neuropathy with myelin outfoldings, although it belongs to a pseudophosphatase subgroup, since its closest homologue is MTMR5/Sbf1. This is the first human disease caused by mutation in a pseudophosphatase, emphasizing the important function of these putatively inactive enzymes. MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork, which permits the outflow of the aqueous humor. Both of these tissues have the same embryonic origin. PMID:12687498

  20. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families

    PubMed Central

    Srilekha, Sundaramurthy; Arokiasamy, Tharigopala; Srikrupa, Natarajan N.; Umashankar, Vetrivel; Meenakshi, Swaminathan; Sen, Parveen; Kapur, Suman; Soumittra, Nagasamy

    2015-01-01

    Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are retinal degenerative diseases which cause severe retinal dystrophy affecting the photoreceptors. LCA is predominantly inherited as an autosomal recessive trait and contributes to 5% of all retinal dystrophies; whereas RP is inherited by all the Mendelian pattern of inheritance and both are leading causes of visual impairment in children and young adults. Homozygosity mapping is an efficient strategy for mapping both known and novel disease loci in recessive conditions, especially in a consanguineous mating, exploiting the fact that the regions adjacent to the disease locus will also be homozygous by descent in such inbred children. Here we have studied eleven consanguineous LCA and one autosomal recessive RP (arRP) south Indian families to know the prevalence of mutations in known genes and also to know the involvement of novel loci, if any. Complete ophthalmic examination was done for all the affected individuals including electroretinogram, fundus photograph, fundus autofluorescence, and optical coherence tomography. Homozygosity mapping using Affymetrix 250K HMA GeneChip on eleven LCA families followed by screening of candidate gene(s) in the homozygous block identified mutations in ten families; AIPL1 – 3 families, RPE65- 2 families, GUCY2D, CRB1, RDH12, IQCB1 and SPATA7 in one family each, respectively. Six of the ten (60%) mutations identified are novel. Homozygosity mapping using Affymetrix 10K HMA GeneChip on the arRP family identified a novel nonsense mutation in MERTK. The mutations segregated within the family and was absent in 200 control chromosomes screened. In one of the eleven LCA families, the causative gene/mutation was not identified but many homozygous blocks were noted indicating that a possible novel locus/gene might be involved. The genotype and phenotype features, especially the fundus changes for AIPL1, RPE65, CRB1, RDH12 genes were as reported earlier. PMID:26147992

  1. A reappraisal of the association between Dysbindin (DTNBP1) and schizophrenia in a large combined case-control and family-based sample of German ancestry

    PubMed Central

    Strohmaier, Jana; Frank, Josef; Wendland, Jens R.; Schumacher, Johannes; Jamra, Rami Abou; Treutlein, Jens; Nieratschker, Vanessa; Breuer, René; Mattheisen, Manuel; Herms, Stefan; Mühleisen, Thomas W.; Maier, Wolfgang; Nöthen, Markus M.; Cichon, Sven; Rietschel, Marcella; Schulze, Thomas G.

    2010-01-01

    Background Dysbindin (DTNBP1) is a widely-studied candidate gene for schizophrenia (SCZ); however, inconsistent results across studies triggered skepticism towards the validity of the findings. In this HapMap-based study, we reappraised the association between Dysbindin and SCZ in a large sample of German ethnicity. Method Six hundred thirty-four cases with DSM-IV SCZ, 776 controls, and 180 parent-offspring trios were genotyped for 38 Dysbindin SNPs. We also studied two phenotypically-defined subsamples: 147 patients with a positive family history of SCZ (FH-SCZ+) and SCZ patients characterized for cognitive performance with Trail-Making Tests A and B (TMT-A: n=219; TMT-B: n=247). Given previous evidence of gene-gene interactions in SCZ involving the COMT gene, we also assessed epistatic interactions between Dysbindin markers and 14 SNPs in COMT. Results No association was detected between Dysbindin markers and SCZ, or in the FH-SCZ+ subgroup. Only one marker (rs1047631, previously reported to be part of a risk haplotype), showed a nominally significant association with performance on TMT-A and TMT-B; these findings did not remain significant after correction for multiple comparisons. Similarly, no pairwise epistatic interactions between Dysbindin and COMT markers remained significant after correction for 504 pairwise comparisons. Conclusions Our results, based on one of the largest sample of European Caucasians and using narrowly-defined criteria for SCZ, do not support the etiological involvement of Dysbindin markers in SCZ. Larger samples may be needed in order to unravel Dysbindin's possible role in the genetic basis of proposed intermediate phenotypes of SCZ or to detect epistatic interactions. PMID:20083391

  2. Association of Monoclonal Expansion of Epstein-Barr Virus-Negative CD158a+ NK Cells Secreting Large Amounts of Gamma Interferon with Hemophagocytic Lymphohistiocytosis?

    PubMed Central

    López-Álvarez, María R.; Martínez-Sánchez, María V.; Salgado-Cecilia, María G.; Campillo, José A.; Heine-Suñer, Damian; Villar-Permuy, Florentina; Fuster, José L.; Bas, Águeda; Gil-Herrera, Juana; Muro, Manuel; García-Alonso, Ana M.; Álvarez-López, María R.; Minguela, Alfredo

    2009-01-01

    We report the first case of hemophagocytic lymphohistiocytosis (HLH) induced by the monoclonal expansion of Epstein-Barr virus (EBV)-negative NK cells. Consanguinity of the patient's parents made it necessary to discard familial HLH in the patient and her sister with identical HLA markers and demonstrate that no cause other than the expansion of NK cells, which secrete high levels of gamma interferon, was inducing HLH in this patient. PMID:19020108

  3. Association of monoclonal expansion of Epstein-Barr virus-negative CD158a+ NK cells secreting large amounts of gamma interferon with hemophagocytic lymphohistiocytosis.

    PubMed

    López-Alvarez, María R; Martínez-Sánchez, María V; Salgado-Cecilia, María G; Campillo, José A; Heine-Suñer, Damian; Villar-Permuy, Florentina; Fuster, José L; Bas, Agueda; Gil-Herrera, Juana; Muro, Manuel; García-Alonso, Ana M; Alvarez-López, María R; Minguela, Alfredo

    2009-01-01

    We report the first case of hemophagocytic lymphohistiocytosis (HLH) induced by the monoclonal expansion of Epstein-Barr virus (EBV)-negative NK cells. Consanguinity of the patient's parents made it necessary to discard familial HLH in the patient and her sister with identical HLA markers and demonstrate that no cause other than the expansion of NK cells, which secrete high levels of gamma interferon, was inducing HLH in this patient. PMID:19020108

  4. Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family.

    PubMed

    Mete, T; Berker, D; Yilmaz, E; Ozgen, G; Yalcin, Y; Tuna, M; Ciliz, D; Onen, M; Aydin, Y; Guler, S

    2014-02-01

    Von Hippel Lindau (VHL) syndrome is an autosomal dominant disorder characterized by benign and malignant tumors. This study presents the clinical and genetic features of VHL syndrome in a Turkish family. For the diagnosis of pheochromocytoma-related diseases, 49 family members from three generations were evaluated between March 2008 and January 2013. Family members were examined to identify components of pheochromocytoma-related genetic syndromes through physical examination, laboratory tests, and imaging methods. For the causative mutation, sequence analysis of VHL gene was performed. Nine patients were diagnosed with pheochromocytoma. Lumbal spinal hemangioblastoma and pancreatic neuroendocrine tumor without pheochromocytoma were detected in one patient. In patients with pheochromocytoma, additional tumors, such as retinal angioma, renal cell carcinoma, pancreatic serous cystadenoma, and pancreatic neuroendocrine tumors were detected. All patients were diagnosed as VHL syndrome type 2B. Sequence analysis of VHL gene revealed heterozygous p.A149S mutation in all symptomatic patients and in seven of the asymptomatic family members. This is the first study that identified VHL p.A149S mutation in a Turkish family with VHL syndrome. However, VHL p.A149S mutation was identified in an American family by Atuk et al. (J Clin Endocrinol Metab, 83:117-120, 14) and the family was defined as VHL type 2A. In our study, the family was identified as VHL type 2B. This variability in the phenotypic features suggests that further studies are required to beter assess the genotype-phenotype correlation in such cases. PMID:23673869

  5. A very large C-loop in EGF domain IV is characteristic of the P28 family of ookinete surface proteins.

    PubMed

    Sharma, Babita; Ambedkar, Rahul Dev; Saxena, Ajay K

    2009-03-01

    The P28 family of proteins are 28 kDa proteins expressed on the surface of sexual stages--zygote, ookinete and young oocyst stages--of Plasmodium species when the parasite resides inside the mosquito midgut. Together with P25 proteins, P28 proteins protect the parasite from the harsh proteolytic environment prevailing inside the mosquito midgut. Vaccines against these proteins induce antibodies in vertebrate hosts that are capable of inhibiting parasite development in the mosquito midgut, thus preventing transmission of the parasite from the mosquito to another human host. These transmission-blocking vaccines are helpful in reducing the burden caused by malaria, which affects 300-600 million, and kills 1-3 million, people annually. The purpose of this study was to structurally characterise six members of the P28 family of ookinete surface proteins with the help of homology modelling, to compare these proteins in terms of transmission blocking and host parasite interactions, and to analyse phylogenetic relationships within the P28 family and with the P25 family. Our results indicate that all the members of the P28 family studied have four EGF domains arranged in triangular fashion with a very big C loop present in EGF domain IV, which could serve as a diagnostic feature of the P28 family as this loop is absent in the P25 family of ookinete surface proteins. The models of the P28 family of ookinete surface proteins obtained may help in understanding the biology of the parasite inside the mosquito midgut, and in designing transmission-blocking vaccines against malaria in the absence of experimentally determined structures of these important surface proteins. PMID:19057932

  6. Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.

    PubMed

    Budde, Birgit S; Mizumoto, Shuji; Kogawa, Ryo; Becker, Christian; Altmüller, Janine; Thiele, Holger; Rüschendorf, Franz; Toliat, Mohammad R; Kaleschke, Gerrit; Hämmerle, Johannes M; Höhne, Wolfgang; Sugahara, Kazuyuki; Nürnberg, Peter; Kennerknecht, Ingo

    2015-07-01

    We describe a large family with disproportionate short stature and bone dysplasia from Nias in which we observed differences in severity when comparing the phenotypes of affected individuals from two remote branches. We conducted a linkage scan in the more severely affected family branch and determined a critical interval of 4.7 cM on chromosome 11. Sequencing of the primary candidate gene TBX10 did not reveal a disease-causing variant. When performing whole exome sequencing we noticed a homozygous missense variant in B3GAT3, c.419C>T [p.(Pro140Leu)]. B3GAT3 encodes ?-1,3-glucuronyltransferase-I (GlcAT-I). GlcAT-I catalyzes an initial step of proteoglycan synthesis and the mutation p. (Pro140Leu) lies within the donor substrate-binding subdomain of the catalytic domain. In contrast to the previously published mutation in B3GAT3, c.830G>A [p.(Arg277Gln)], no heart phenotype could be detected in our family. Functional studies revealed a markedly reduced GlcAT-I activity in lymphoblastoid cells from patients when compared to matched controls. Moreover, relative numbers of glycosaminoglycan (GAG) side chains were decreased in patient cells. We found that Pro140Leu-mutant GlcAT-I cannot efficiently transfer GlcA to the linker region trisaccharide. This failure results in a partial deficiency of both chondroitin sulfate and heparan sulfate chains. Since the phenotype of the Nias patients differs from the Larsen-like syndrome described for patients with mutation p.(Arg277Gln), we suggest mutation B3GAT3:p.(Pro140Leu) to cause a different type of GAG linkeropathy showing no involvement of the heart. PMID:25893793

  7. Autosomal dominant Kufs` disease: Clinical heterogeneity in nine families, and exclusion of linkage to CLN1 and CLN3 markers in a large American kindred

    SciTech Connect

    Andermann, F.; Andermann, E.; Carpenter, S. [and others

    1994-09-01

    Most forms of neuronal ceroid lipofuscinosis (NCL) are autosomal recessive, and three genes have already been mapped: the infantile form (CLN 1); the juvenile form (CLN 3); and the early juvenile variant (CLN 5) on chromosomes 1, 16 and 13, respectively. Kufs` disease or adolescent-adult onset NCL is usually inherited as an autosomal recessive trait, and presents as three distinct clinical syndromes: progressive myoclonus epilepsy (PME) with onset in the early teens or around age 30; and onset of dementia with motor disability in the 30s. We have studied three families originating from different parts of the USA manifesting dominantly inherited Kufs` disease. Granular osmophilic deposits (GROD) were found in brain, but storage in skin was not an obligatory feature. Six dominantly inherited PME families have been ascertained from three different regions of Spain. No storage was found in skin or muscle in any of these families. The mean age of onset in the American families is earlier, the clinical manifestations more severe, and the progression much more rapid that in the Spanish families. These findings would suggest the possibility of genetic heterogeneity involving two or more loci, or different mutations at the same gene locus. Genetic linkage studies have been carried out in a six-generation New Jersey family in an attempt to characterize the gene(s) responsible for this disorder. The infantile NCL locus on chromosome 1p (CLN1) and the juvenile NCL locus on chromosome 16p (CLN 3) have been excluded in this family. Further clinical, pathological and molecular genetic studies should lead to the clarification of the diagnostic approaches in this disorder.

  8. Family Folklore

    ERIC Educational Resources Information Center

    Kotkin, Amy J.; Baker, Holly C.

    1977-01-01

    Discusses the Family Folklore Program of the Smithsonian Institution's annual Festival of American Folklife, in which the whole family can be involved in tracing family history through story telling, photographs, etc. (MS)

  9. Familiality of Tourette Syndrome, Obsessive-Compulsive Disorder, and Attention-Deficit/Hyperactivity Disorder: Heritability Analysis in a Large Sib-Pair Sample

    ERIC Educational Resources Information Center

    Mathews, Carol A.; Grados, Marco A.

    2011-01-01

    Objective: Tourette syndrome (TS) is a neuropsychiatric disorder with a genetic component that is highly comorbid with obsessive-compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD). However, the genetic relations between these disorders have not been clearly elucidated. This study examined the familial relations among TS,…

  10. The Quality of Teachers' Interactive Conversations with Preschool Children from Low-Income Families during Small-Group and Large-Group Activities

    ERIC Educational Resources Information Center

    Chen, Jennifer J.; de Groot Kim, Sonja

    2014-01-01

    This study examined the quality of preschool teachers' interactive conversations with three- and four-year-olds in two Head Start classrooms serving children from low-income families in the United States. Over a period of 20?weeks, 10 bi-weekly observations of conversations (totaling 15?h per classroom) were conducted in one small-group (Play…

  11. Family Privilege

    ERIC Educational Resources Information Center

    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…

  12. [Family planning in Brazil].

    PubMed

    Nakamura, M S; Fonseca, J P; Aguinaga, H; Busch, C J; Marlet, J M

    1978-02-01

    In 1970, 41.6% of the Brazilian population was represented by children aged 0-14, and by 21.3% of women in fertile age; the birth rate was 36.9/1000. Without an appropriate national program of family planning, Brazil will have in the year 2000, 218.8 million inhabitants. The need for family planning services in Brazil is evident, even more so since abortion is forbidden, unless for therapeutic reasons. A national family planning program should include a complete range of maternal and child services, and screening for high-risk women; in other words, family planning should be thought of and used as preventive medicine. Family planning is not so much a right as a duty of the couple. The Catholic church, largely prevalent in Brazil, approves of family planning when practiced with the means allowed by the church itself. PMID:12311569

  13. Street Men, Family Men: Race and Men's Extended Family Integration

    ERIC Educational Resources Information Center

    Sarkisian, Natalia

    2007-01-01

    Disorganization theories postulate that black men have largely abandoned their familial roles. Using the NSFH data, this article refutes the hypothesis of black men's familial disengagement by focusing on extended family integration. Black men are more likely than white men to live with or near extended kin, as well as to frequently see kin in…

  14. Efficiency of allogeneic hematopoietic SCT from HLA fully-matched non-sibling relatives: a new prospect of exploiting extended family search.

    PubMed

    Hamidieh, A A; Dehaghi, M Ostadali; Paragomi, P; Navaei, S; Jalali, A; Eslami, G Ghazizadeh; Behfar, M; Ghavamzadeh, A

    2015-04-01

    The best donors for hematopoietic SCT (HSCT) are fully-matched siblings. In patients without fully-matched siblings, HLA registries or cord blood banks are alternative strategies with some restrictions. Owing to the high rate of consanguineous marriage in our country, between 2006 and 2013, extended family searches were undertaken in Hematology-Oncology Research Center and Stem Cell Transplantation (HORCSCT), Tehran, Iran, in 523 HSCT candidates with parental consanguinity and no available HLA identical sibling. Fully-matched other-relative donors were found for 109 cases. We retrospectively studied the HSCT outcome in these patients. Median time to neutrophil engraftment was 13 days (range: 9-31days). In 83 patients, full chimerism and in 17 patients, mixed chimerism was achieved. Acute GvHD (aGvHD) grade II-IV appeared in 36 patients (33%). The frequency of aGvHD development in various familial subgroups was NS. Five patients expired before day+100. In the surviving 104 cases, chronic GvHD developed in 20 patients (19.2%). The distantly related subgroup had significantly a higher rate of cGvHD (P=0.04). The 2-year OS and disease-free survival (DFS) were 76.7±4.5% and 71.7±4.7%, respectively. No significant difference in OS (P=0.30) and DFS (P=0.80) was unraveled between various familial relationships. Our considerable rate of fully-matched non-sibling family members and the favorable outcome support the rationale for extended family search in regions where consanguineous marriage is widely practiced. PMID:25621800

  15. Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies

    PubMed Central

    Saqib, Muhammad Arif Nadeem; Nikopoulos, Konstantinos; Ullah, Ehsan; Sher Khan, Falak; Iqbal, Jamila; Bibi, Rabia; Jarral, Afeefa; Sajid, Sundus; Nishiguchi, Koji M.; Venturini, Giulia; Ansar, Muhammad; Rivolta, Carlo

    2015-01-01

    Inherited retinal dystrophies are phenotypically and genetically heterogeneous. This extensive heterogeneity poses a challenge when performing molecular diagnosis of patients, especially in developing countries. In this study, we applied homozygosity mapping as a tool to reduce the complexity given by genetic heterogeneity and identify disease-causing variants in consanguineous Pakistani pedigrees. DNA samples from eight families with autosomal recessive retinal dystrophies were subjected to genome wide homozygosity mapping (seven by SNP arrays and one by STR markers) and genes comprised within the detected homozygous regions were analyzed by Sanger sequencing. All families displayed consistent autozygous genomic regions. Sequence analysis of candidate genes identified four previously-reported mutations in CNGB3, CNGA3, RHO, and PDE6A, as well as three novel mutations: c.2656C?>?T (p.L886F) in RPGRIP1, c.991G?>?C (p.G331R) in CNGA3, and c.413-1G?>?A (IVS6-1G?>?A) in CNGB1. This latter mutation impacted pre-mRNA splicing of CNGB1 by creating a -1 frameshift leading to a premature termination codon. In addition to better delineating the genetic landscape of inherited retinal dystrophies in Pakistan, our data confirm that combining homozygosity mapping and candidate gene sequencing is a powerful approach for mutation identification in populations where consanguineous unions are common. PMID:25943428

  16. Family issues in child anxiety: Attachment, family functioning, parental rearing and beliefs

    Microsoft Academic Search

    Susan M. Bögels; Margaret L. Brechman-Toussaint

    2006-01-01

    Family studies have found a large overlap between anxiety disorders in family members. In addition to genetic heritability, a range of family factors may also be involved in the intergenerational transmission of anxiety. Evidence for a relationship between family factors and childhood as well as parental anxiety is reviewed. Four groups of family variables are considered: (I) attachment; (II), aspects

  17. Rural Families.

    ERIC Educational Resources Information Center

    Goetz, Kathy, Ed.

    1992-01-01

    This "special focus" journal issue consists of 13 individual articles on the theme of rural family programs relating to school, health services, church, and other institutions. It includes: (1) "Towards a Rural Family Policy" (Judith K. Chynoweth and Michael D. Campbell); (2) "Montana: Council for Families Collaborates for Prevention (Jean…

  18. Family Support.

    ERIC Educational Resources Information Center

    Wieck, Colleen, Ed.; McBride, Marijo, Ed.

    1990-01-01

    This "Feature Issue" of the quarterly journal "Impact" presents 19 brief articles on family support systems in the United States for persons with developmental disabilities and their families. Emphasis is on provisions of Public Law 99-457. Articles include: "Family Support in the United States: Setting a Course for the 1990s" (James Knoll);…

  19. The HAK1 gene of barley is a member of a large gene family and encodes a high-affinity potassium transporter.

    PubMed Central

    Santa-María, G E; Rubio, F; Dubcovsky, J; Rodríguez-Navarro, A

    1997-01-01

    The high-affinity K+ uptake system of plants plays a crucial role in nutrition and has been the subject of extensive kinetic studies. However, major components of this system remain to be identified. We isolated a cDNA from barley roots, HvHAK1, whose translated sequence shows homology to the Escherichia coli Kup and Schwanniomyces occidentalis HAK1 K+ transporters. HvHAK1 conferred high-affinity K+ uptake to a K(+)-uptake-deficient yeast mutant exhibiting the hallmark characteristics of the high-affinity K+ uptake described for barley roots. HvHAK1 also mediated low-affinity Na+ uptake. Another cDNA (HvHAK2) encoding a polypeptide 42% identical to HvHAK1 was also isolated. Analysis of several genomes of Triticeae indicates that HvHAK1 belongs to a multigene family. Translated sequences from bacterial DNAs and Arabidopsis, rice, and possibly human cDNAs show homology to the Kup-HAK1-HvHAK1 family of K+ transporters. PMID:9437867

  20. Regulation of DAF-2 receptor signaling by human insulin and ins-1, a member of the unusually large and diverse C. elegans insulin gene family

    PubMed Central

    Pierce, Sarah B.; Costa, Michael; Wisotzkey, Robert; Devadhar, Sharmila; Homburger, Sheila A.; Buchman, Andrew R.; Ferguson, Kimberly C.; Heller, Jonathan; Platt, Darren M.; Pasquinelli, Amy A.; Liu, Leo X.; Doberstein, Stephen K.; Ruvkun, Gary

    2001-01-01

    The activity of the DAF-2 insulin-like receptor is required for Caenorhabditis elegans reproductive growth and normal adult life span. Informatic analysis identified 37 C. elegans genes predicted to encode insulin-like peptides. Many of these genes are divergent insulin superfamily members, and many are clustered, indicating recent diversification of the family. The ins genes are primarily expressed in neurons, including sensory neurons, a subset of which are required for reproductive development. Structural predictions and likely C-peptide cleavage sites typical of mammalian insulins suggest that ins-1 is most closely related to insulin. Overexpression of ins-1, or expression of human insulin under the control of ins-1 regulatory sequences, causes partially penetrant arrest at the dauer stage and enhances dauer arrest in weak daf-2 mutants, suggesting that INS-1 and human insulin antagonize DAF-2 insulin-like signaling. A deletion of the ins-1 coding region does not enhance or suppress dauer arrest, indicating a functional redundancy among the 37 ins genes. Of five other ins genes tested, the only other one bearing a predicted C peptide also antagonizes daf-2 signaling, whereas four ins genes without a C peptide do not, indicating functional diversity within the ins family. PMID:11274053

  1. Identification of an extensive gene cluster among a family of PPOs in Trifolium pratense L. (red clover) using a large insert BAC library

    PubMed Central

    2009-01-01

    Background Polyphenol oxidase (PPO) activity in plants is a trait with potential economic, agricultural and environmental impact. In relation to the food industry, PPO-induced browning causes unacceptable discolouration in fruit and vegetables: from an agriculture perspective, PPO can protect plants against pathogens and environmental stress, improve ruminant growth by increasing nitrogen absorption and decreasing nitrogen loss to the environment through the animal's urine. The high PPO legume, red clover, has a significant economic and environmental role in sustaining low-input organic and conventional farms. Molecular markers for a range of important agricultural traits are being developed for red clover and improved knowledge of PPO genes and their structure will facilitate molecular breeding. Results A bacterial artificial chromosome (BAC) library comprising 26,016 BAC clones with an average 135 Kb insert size, was constructed from Trifolium pratense L. (red clover), a diploid legume with a haploid genome size of 440–637 Mb. Library coverage of 6–8 genome equivalents ensured good representation of genes: the library was screened for polyphenol oxidase (PPO) genes. Two single copy PPO genes, PPO4 and PPO5, were identified to add to a family of three, previously reported, paralogous genes (PPO1–PPO3). Multiple PPO1 copies were identified and characterised revealing a subfamily comprising three variants PPO1/2, PPO1/4 and PPO1/5. Six PPO genes clustered within the genome: four separate BAC clones could be assembled onto a predicted 190–510 Kb single BAC contig. Conclusion A PPO gene family in red clover resides as a cluster of at least 6 genes. Three of these genes have high homology, suggesting a more recent evolutionary event. This PPO cluster covers a longer region of the genome than clusters detected in rice or previously reported in tomato. Full-length coding sequences from PPO4, PPO5, PPO1/5 and PPO1/4 will facilitate functional studies and provide genetic markers for plant breeding. PMID:19619287

  2. Recombination event at the Friedreich`s ataxia (FRDA) locus in a large French-Canadian family positions the FRDA gene centromeric to the X11 gene

    SciTech Connect

    Richter, A.; Mercier, J.; Poirier, J. [Univ. of Montreal, Quebec (Canada)] [and others

    1994-09-01

    The FRDA gene is closely linked to loci D9S15 (MCT112) and D9S5 (DR47/26P) on chromosome 9q in a region of reduced recombination. We studied three related Quebec families using 11 polymorphic markers spanning {approximately} 1.5 megabases on 9q. They are arranged 9qtel-9qcen as shown. All are multiallelic microsatellites, except for MCT/MspI, DR47 and 26P. We find that two obligate heterozygote siblings: No. 196 (mother of 5 affected children) and No. 179 (father of 1 affected son) gave different FRDA chromosomes to their affected offspring. Both chromosomes originate from their unaffected mother No. 197. A recombination took place so that she transmitted No. 179, on the 2-8-6-1-3-2-2-2-2-3-7 haplotype the mutant FRDA gene. It occurred after FD1/X11 and extends as far as FR5. Lack of informativity at the MLS1 and FR2 loci precludes the detection of a second, unlikely recombination event within the region. This rare recombination places the FRDA gene centromeric to the X11 gene.

  3. RNA Interference Suppression of Genes in Glycosyl Transferase Families 43 and 47 in Wheat Starchy Endosperm Causes Large Decreases in Arabinoxylan Content1[C][W][OPEN

    PubMed Central

    Lovegrove, Alison; Wilkinson, Mark D.; Freeman, Jackie; Pellny, Till K.; Tosi, Paola; Saulnier, Luc; Shewry, Peter R.; Mitchell, Rowan A.C.

    2013-01-01

    The cell walls of wheat (Triticum aestivum) starchy endosperm are dominated by arabinoxylan (AX), accounting for 65% to 70% of the polysaccharide content. Genes within two glycosyl transferase (GT) families, GT43 (IRREGULAR XYLEM9 [IRX9] and IRX14) and GT47 (IRX10), have previously been shown to be involved in the synthesis of the xylan backbone in Arabidopsis, and close homologs of these have been implicated in the synthesis of xylan in other species. Here, homologs of IRX10 TaGT47_2 and IRX9 TaGT43_2, which are highly expressed in wheat starchy endosperm cells, were suppressed by RNA interference (RNAi) constructs driven by a starchy endosperm-specific promoter. The total amount of AX was decreased by 40% to 50% and the degree of arabinosylation was increased by 25% to 30% in transgenic lines carrying either of the transgenes. The cell walls of starchy endosperm in sections of grain from TaGT43_2 and TaGT47_2 RNAi transgenics showed decreased immunolabeling for xylan and arabinoxylan epitopes and approximately 50% decreased cell wall thickness compared with controls. The proportion of AX that was water soluble was not significantly affected, but average AX polymer chain length was decreased in both TaGT43_2 and TaGT47_2 RNAi transgenics. However, the long AX chains seen in controls were absent in TaGT43_2 RNAi transgenics but still present in TaGT47_2 RNAi transgenics. The results support an emerging picture of IRX9-like and IRX10-like proteins acting as key components in the xylan synthesis machinery in both dicots and grasses. Since AX is the main component of dietary fiber in wheat foods, the TaGT43_2 and TaGT47_2 genes are of major importance to human nutrition. PMID:23878080

  4. RNA interference suppression of genes in glycosyl transferase families 43 and 47 in wheat starchy endosperm causes large decreases in arabinoxylan content.

    PubMed

    Lovegrove, Alison; Wilkinson, Mark D; Freeman, Jackie; Pellny, Till K; Tosi, Paola; Saulnier, Luc; Shewry, Peter R; Mitchell, Rowan A C

    2013-09-01

    The cell walls of wheat (Triticum aestivum) starchy endosperm are dominated by arabinoxylan (AX), accounting for 65% to 70% of the polysaccharide content. Genes within two glycosyl transferase (GT) families, GT43 (IRREGULAR XYLEM9 [IRX9] and IRX14) and GT47 (IRX10), have previously been shown to be involved in the synthesis of the xylan backbone in Arabidopsis, and close homologs of these have been implicated in the synthesis of xylan in other species. Here, homologs of IRX10 TaGT47_2 and IRX9 TaGT43_2, which are highly expressed in wheat starchy endosperm cells, were suppressed by RNA interference (RNAi) constructs driven by a starchy endosperm-specific promoter. The total amount of AX was decreased by 40% to 50% and the degree of arabinosylation was increased by 25% to 30% in transgenic lines carrying either of the transgenes. The cell walls of starchy endosperm in sections of grain from TaGT43_2 and TaGT47_2 RNAi transgenics showed decreased immunolabeling for xylan and arabinoxylan epitopes and approximately 50% decreased cell wall thickness compared with controls. The proportion of AX that was water soluble was not significantly affected, but average AX polymer chain length was decreased in both TaGT43_2 and TaGT47_2 RNAi transgenics. However, the long AX chains seen in controls were absent in TaGT43_2 RNAi transgenics but still present in TaGT47_2 RNAi transgenics. The results support an emerging picture of IRX9-like and IRX10-like proteins acting as key components in the xylan synthesis machinery in both dicots and grasses. Since AX is the main component of dietary fiber in wheat foods, the TaGT43_2 and TaGT47_2 genes are of major importance to human nutrition. PMID:23878080

  5. Family Theory and Family Health Research

    PubMed Central

    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 health research are discussed. PMID:21229056

  6. FAMILY GEMINIVIRIDAE

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The International Committee on the Taxonomy of Viruses geminivirus study group has revised the description of the family Geminiviridae for inclusion in the ICTV 8th report. Characteristic features of each genus within the family is presented. Revised criteria for demarcation and nomenclature of vi...

  7. FAMILY POTYVIRIDAE

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The International Committee on the Taxonomy of Viruses potyvirus study group has revised the description of the family Geminiviridae for inclusion in the ICTV 8th report. Characteristic features of each genus within the family is presented. Revised criteria for demarcation and nomenclature of vira...

  8. Family Empowerment.

    ERIC Educational Resources Information Center

    Sinclair, Mary F., Ed.; And Others

    1992-01-01

    This feature issue of IMPACT focuses on the empowerment of families with a member who has a developmental disability. It presents strategies and models for a collaborative, respectful approach to service provision, and presents the experiences of families in seeking support and assistance. Feature articles include "Two Generations of Disability: A…

  9. Family Potyviridae

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The International Committee on the Taxonomy of Viruses potyvirus study group has revised the description of the family Potyviridae for inclusion in the ICTV 9th report. Characteristic features of each genus within the family is presented. Revised criteria for demarcation and nomenclature of viral sp...

  10. Family Workshops

    ERIC Educational Resources Information Center

    Bennett, Dave; Rees-Jones, Tanny

    1978-01-01

    A Family Workshop is an informal, multidisciplined educational program for adults and children, organized by a team of teachers. This article discusses the Lavender Hill Family Workshop, one of many, which attempts to provide education in various subject areas for adults and for children while also integrating both objectives in order to educate…

  11. Phase-diagram-guided method for growth of a large crystal of glycoside hydrolase family 45 inverting cellulase suitable for neutron structural analysis

    PubMed Central

    Nakamura, Akihiko; Ishida, Takuya; Fushinobu, Shinya; Kusaka, Katsuhiro; Tanaka, Ichiro; Inaka, Koji; Higuchi, Yoshiki; Masaki, Mika; Ohta, Kazunori; Kaneko, Satoshi; Niimura, Nobuo; Igarashi, Kiyohiko; Samajima, Masahiro

    2013-01-01

    Neutron protein crystallography (NPC) is a powerful tool for determining the hydrogen position and water orientation in proteins, but a much larger protein crystal is needed for NPC than for X-ray crystallography, and thus crystal preparation is a bottleneck. To obtain large protein crystals, it is necessary to know the properties of the target protein in the crystallization solution. Here, a crystal preparation method of fungal cellulase PcCel45A is reported, guided by the phase diagram. Nucleation and precipitation conditions were determined by sitting-drop vapor diffusion. Saturation and unsaturation conditions were evaluated by monitoring crystal dissolution, and a crystallization phase diagram was obtained. To obtain a large crystal, crystallization solution was prepared on a sitting bridge (diameter = 5?mm). Initial crystallization conditions were 40?µl of crystallization solution (40?mg?ml?1 protein with 30.5% 3-methyl-1,5-pentanediol in 50?mM tris-HCl pH 8.0) with a 1000?µl reservoir (61% 3-methyl-1,5,-pentanediol in 50?mM tris-HCl pH 8.0) at 293?K. After the first crystal appeared, the concentration of precipitant in the reservoir solution was reduced to 60% to prevent formation of further crystals. Finally, we obtained a crystal of 6?mm3 volume (3?mm × 2?mm × 1?mm), which was suitable for neutron diffraction. PMID:24121328

  12. Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe

    SciTech Connect

    Grasso, M.; Perroni, L.; Dagna-Bricarelli, F. [Centro di Genetica Umana, Genova (Italy)] [and others] [Centro di Genetica Umana, Genova (Italy); and others

    1996-08-09

    This report complements a series of clinical, cytogenetical, and psychological studies previously reported on a large Sardinian pedigree segregating for premutations and full mutations associated with the Martin-Bell syndrome (MBS). Using the StB12.3 probe, we report now the molecular classification of all of the critical members of the pedigree. These molecular findings are evaluated against the variable phenotypic manifestations of the disease in the course of a six-generation segregation of an MBS premutation allegedly present in a common female progenitor of 14 MBS male patients and 9 female MBS heterozygotes seen in the last two generations. The nature and stepwise progression of MBS-premutations toward the fully manifested Martin-Bell syndrome and the possibility of reverse mutational events toward the normal allele are discussed with respect to the application of the presently available diagnostic tools in genetic counseling. 12 refs., 1 fig.

  13. Familial abdominal aortic aneurysms: Collection of 233 multiplex families

    Microsoft Academic Search

    Helena Kuivaniemi; Hidenori Shibamura; Claudette Arthur; Ramon Berguer; C. William Cole; Tatu Juvonen; Ronald A. Kline; Raymond Limet; Gerry MacKean; Örjan Norrgård; Gerard Pals; Janet T. Powell; Pekka Rainio; Natzi Sakalihasan; Clarissa van Vlijmen-van Keulen; Alain Verloes; Gerard Tromp

    2003-01-01

    Objective: This study investigated a large number of families in which at least two individuals were diagnosed with abdominal aortic aneurysms to identify the relationship of the affected relatives to the proband. Subjects and Methods: Families for the study were recruited through various vascular surgery centers in the United States, Finland, Belgium, Canada, the Netherlands, Sweden, and the United Kingdom

  14. [Family ideology].

    PubMed

    Kornblit, A

    1982-06-01

    This paper treats the definition of the concept of family ideology linking it to that of social ideology. In both cases the ideology is seen as patterns of messages that obey certain semantic rules. Within the family context, it is considered that the conditions of production of the ideology are, concerning the profound structures, the unconscious oedipus conflict and kindred system that determines the family organization. Concerning the surface structures, the myths and beliefs that appear in each group as an answer to the need of accounting for the conflicts inherent to the family structure. The family ideology guides the subjects to places predetermined by the oedipus conflicts, "semanticizes" the conflicts and tends to dissimulate the conditions of production through the illusion that the subject is the producer. To analyze the family ideology, the following items must be taken into account: 1) Which are the semantic lines that are privileged in the couple and parent-children relationships. 2) The relations between the semantic lines established by the articulation rules prescribed by the cultural system. 3) The elementary forms of the ideological universe (the "actantial" model applied to family relationships). These three aspects articulate between themselves through transformation rules. PMID:7136827

  15. Family History

    MedlinePLUS

    ... Brain Aneurysm Statistics and Facts Seeking Medical Attention Pediatric Aneurysms Brain Aneurysm Causes and Risk Factors Family History Early Detection and Screening Unruptured Brain Aneurysms Subarachnoid Hemorrhage Treatment Options Aneurysm Complications Post ...

  16. Families & Friendships

    MedlinePLUS

    ... Traumatic Brain Injury Life Stress Health & Wellness Anger Stigma Suicide Prevention Families with Kids Alcohol and Drugs ... Resilience Satisfaction with Life Sexual Truama Sleep Spirituality Stigma Stress Work Adjustment Worry Videos Post-Traumatic Stress ...

  17. Family Issues

    MedlinePLUS

    ... Relationships Self-Advocacy Navigating Services Autism Source Legal Resources Treatment Options Biomedical Treatments Nonmedical Interventions Related Approaches Evaluating Options Family Issues Stress Siblings Community Inclusion Autism and Faith Future Planning Government Benefits and ...

  18. Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations

    PubMed Central

    Marzouka, Nour al Dain; Hebrard, Maxime; Manes, Gaël; Sénéchal, Audrey; Meunier, Isabelle; Hamel, Christian P.

    2013-01-01

    Purpose Autosomal recessive retinitis pigmentosa (arRP) is a genetically heterogeneous disease resulting in progressive loss of photoreceptors that leads to blindness. To date, 36 genes are known to cause arRP, rendering the molecular diagnosis a challenge. The aim of this study was to use homozygosity mapping to identify the causative mutation in a series of inbred families with arRP. Methods arRP patients underwent standard ophthalmic examination, Goldman perimetry, fundus examination, retinal OCT, autofluorescence measurement, and full-field electroretinogram. Fifteen consanguineous families with arRP excluded for USH2A and EYS were genotyped on 250 K SNP arrays. Homozygous regions were listed, and known genes within these regions were PCR sequenced. Familial segregation and mutation analyzes were performed. Results We found ten mutations, seven of which were novel mutations in eight known genes, including RP1, IMPG2, NR2E3, PDE6A, PDE6B, RLBP1, CNGB1, and C2ORF71, in ten out of 15 families. The patients carrying RP1, C2ORF71, and IMPG2 mutations presented with severe RP, while those with PDE6A, PDE6B, and CNGB1 mutations were less severely affected. The five families without mutations in known genes could be a source of identification of novel genes. Conclusions Homozygosity mapping combined with systematic screening of known genes results in a positive molecular diagnosis in 66.7% of families. PMID:24339724

  19. AMH gene mutations in two Egyptian families with persistent müllerian duct syndrome.

    PubMed

    Mazen, Inas; Abdel Hamid, M S; El-Gammal, M; Aref, A; Amr, K

    2011-01-01

    The anti-müllerian hormone (AMH) is responsible for regression of müllerian ducts during male sexual differentiation. Mutations in the AMH gene or its type II receptor gene AMHR2 lead to persistence of the uterus and fallopian tubes in male children, i.e. persistent müllerian duct syndrome (PMDS). Both conditions are transmitted according to an autosomal recessive pattern and are symptomatic only in males. We report on 2 unrelated Egyptian consanguineous families with PMDS. The first family comprised 3 affected prepubertal sibs complaining of undescended testes. Pelvic exploration and laparotomy revealed müllerian duct derivatives. The other family was presenting with an adolescent male with impalpable left testis, and pelvic exploration showed remnants of fallopian tubes and rudimentary uterus. AMH levels were very low and almost undetectable in all affected patients in both families. Direct sequencing of the coding region of the AMH gene identified 2 homozygous mutations in exon 1, R95X in the first family and V12G in the second family. These data confirmed the autosomal recessive type of PMDS. Molecular investigation of this rare disorder in a larger number of cases with undescended testes in Egypt is warranted for proper diagnosis and genetic counseling. PMID:22188863

  20. Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

    PubMed Central

    Waheed, Nadia Khalida; Siddiqui, Sorath Noorani; Mustafa, Bilal; Ayub, Humaira; Ali, Liaqat; Ahmad, Shakeel; Micheal, Shazia; Hussain, Alamdar; Shah, Syed Tahir Abbas; Ali, Syeda Hafiza Benish; Ahmed, Waqas; Khan, Yar Muhammad; den Hollander, Anneke I.; Haer-Wigman, Lonneke; Collin, Rob W. J.; Khan, Muhammad Imran; Qamar, Raheel; Cremers, Frans P. M.

    2015-01-01

    Background Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as inherited retinal disease (IRD). Methods We genetically screened 13 families from a cohort of 81 Pakistani IRD families diagnosed with Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), congenital stationary night blindness (CSNB), or cone dystrophy (CD). We employed genome-wide single nucleotide polymorphism (SNP) array analysis to identify homozygous regions shared by affected individuals and performed Sanger sequencing of IRD-associated genes located in the sizeable homozygous regions. In addition, based on population specific mutation data we performed targeted Sanger sequencing (TSS) of frequent variants in AIPL1, CEP290, CRB1, GUCY2D, LCA5, RPGRIP1 and TULP1, in probands from 28 LCA families. Results Homozygosity mapping and Sanger sequencing of IRD-associated genes revealed the underlying mutations in 10 families. TSS revealed causative variants in three families. In these 13 families four novel mutations were identified in CNGA1, CNGB1, GUCY2D, and RPGRIP1. Conclusions Homozygosity mapping and TSS revealed the underlying genetic cause in 13 IRD families, which is useful for genetic counseling as well as therapeutic interventions that are likely to become available in the near future. PMID:25775262

  1. Resolving the Debate over Birth Order, Family Size, and Intelligence.

    ERIC Educational Resources Information Center

    Rodgers, Joseph Lee; Cleveland, H. Harrington; van den Oord, Edwin; Rowe, David C.

    2000-01-01

    Investigated the relationship between birth order, family size, and intelligence quotient (IQ), evaluating sibling data from the National Longitudinal Survey of Youth and comparing results with those from other studies using within-family data. Results indicated that although low IQ parents were making large families, large families were not…

  2. Familial hypercholesterolemia.

    PubMed

    Bouhairie, Victoria Enchia; Goldberg, Anne Carol

    2015-05-01

    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 low-density lipoprotein (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 familial hypercholesterolemia. It is important to increase awareness of this disorder in physicians and patients to reduce the burden of this disorder. PMID:25939291

  3. Family Child Care Licensing Study, 2000.

    ERIC Educational Resources Information Center

    Kelly, Nia, Comp.

    This report presents the findings of the 2000 national survey of state child care regulatory agencies to update and expand family child care regulatory information published in the 1999 study. Data on small family child care homes and group or large family child care homes are organized in 23 categories: (1) number of regulated homes; (2)…

  4. Family Child Care Licensing Study, 2003.

    ERIC Educational Resources Information Center

    Hollestelle, Kay; Koch, Pauline D.

    This report presents the findings of the 2003 national survey of state child care regulatory agencies to update and expand family child care regulatory information published in the 2002 study. Data on small family child care homes and group or large family child care homes are organized into the following 23 categories: (1) number of regulated…

  5. The Family Child Care Licensing Study, 1999.

    ERIC Educational Resources Information Center

    Children's Foundation, Washington, DC.

    This report presents the findings of the 1999 national survey of state child care regulatory agencies to update and expand family child care regulatory information published in the 1998 study. Data on small family child care homes and group or large family child care homes are organized in 22 categories: (1) number of regulated homes; (2)…

  6. Family Child Care Licensing Study, 2001.

    ERIC Educational Resources Information Center

    Children's Foundation, Washington, DC.

    This report presents the findings of the 2001 national survey of state child care regulatory agencies to update and expand family child care regulatory information published in the 2000 study. Data on small family child care homes and group or large family child care homes are organized into the following 23 categories: (1) number of regulated…

  7. Family Child Care Licensing Study, 2002.

    ERIC Educational Resources Information Center

    Children's Foundation, Washington, DC.

    This report presents the findings of the 2002 national survey of state child care regulatory agencies to update and expand family child care regulatory information published in the 2001 study. Data on small family child care homes and group or large family child care homes are organized into the following 23 categories: (1) number of regulated…

  8. The case of the missing Ceres family

    NASA Astrophysics Data System (ADS)

    Rivkin, Andrew S.; Asphaug, Erik; Bottke, William F.

    2014-11-01

    Ceres is unusual among large (>250 km) asteroids in lacking a dynamical family. We explore possible explanations, noting that its particularly large size and the ubiquity of families associated with other large asteroids makes avoidance of a sufficiently-sized collision by chance exceedingly unlikely. Current models of Ceres' thermal history and interior structure favor a differentiated object with an icy near-surface covered by an ?0.1-1 km lag deposit, which could result in a collisional family of diverse, predominately icy bodies. We predict that sublimation of an icy Ceres family would occur on timescales of hundreds of millions of years, much shorter than the history of the Solar System. Sublimation on a Ceres family body would be aided by a low non-ice fraction and a high average temperature, both of which would inhibit lag deposit development. Because there seems to be no likely mechanism for removing a rocky Ceres family, and because the formation of a Ceres family of some kind seems nearly statistically inevitable, the lack of a Ceres family is indirect but independent evidence for Ceres' differentiation. All of the other large asteroids lacking dynamical families (704 Interamnia, 52 Europa, and 65 Cybele) have spectral properties similar to Ceres, or otherwise suggesting ice at their surfaces. While other large asteroids with similar spectral properties do have families (24 Themis, 10 Hygiea, 31 Euphrosyne), their families are not well understood, particularly Hygiea.

  9. Serving Families.

    ERIC Educational Resources Information Center

    Link, Geoffrey; Beggs, Marjorie; Seiderman, Ethel

    Parent Services Project (PSP), the first comprehensive program of resources and mental health activities for parents offered at child care centers in the San Francisco Bay Area (California), has expanded to centers in six states, serving over 19,000 families. This report describes the program's history, aims, and achievements, along with specific…

  10. Family Hypnotherapy.

    ERIC Educational Resources Information Center

    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. Family Structure and Family Processes in Mexican American Families

    PubMed Central

    Zeiders, Katharine H.; Roosa, Mark W.; Tein, Jenn-Yun

    2010-01-01

    Despite increases in single-parent families among Mexican Americans (MA), few studies have examined the association of family structure and family adjustment. Utilizing a diverse sample of 738 Mexican American families (21.7% single parent), the current study examined differences across family structure on early adolescent outcomes, family functioning, and parent-child relationship variables. Results revealed that early adolescents in single parent families reported greater school misconduct, CD/ODD and MDD symptoms, and greater parent-child conflict than their counterparts in two parent families. Single parent mothers reported greater economic hardship, depression and family stress. Family stress and parent-child conflict emerged as significant mediators of the association between family structure and early adolescent outcomes, suggesting important processes linking MA single parent families and adolescent adjustment. PMID:21361925

  12. Juvenile familial endocrinopathy

    PubMed Central

    Drury, M. I.; Keelan, Deborah M.; Timoney, F. J.; Irvine, W. J.

    1970-01-01

    A case of primary hypothyroidism, idiopathic Addison's disease, idiopathic hypoparathyroidism (with preceding moniliasis), Addisonian pernicious anaemia and primary ovarian failure is described. She died at the age of 24 years following an illness compatible with adrenal crisis. At post-mortem there was no recognizable adrenal or ovarian tissue; there was only a minute portion of probable parathyroid tissue and the uterus was infantile. Her serum contained antibodies reactive with adrenal cortex, steroid-producing cells in the gonads, placental trophoblasts and thyroid epithelial cytoplasm and intrinsic factor. Her brother, who was known to have gluten enteropathy, died aged 11 years following an illness compatible with adrenal crisis. His adrenal glands were grossly atrophic at autopsy. The parents were consanguinous and both showed either clinical or serological evidence of organ specific autoimmune disease. PMID:5202743

  13. A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis

    PubMed Central

    Walsh, D. M.; Shah, S. H.; Simpson, M. A.; Morgan, N. V.; Khaliq, S.; Trembath, R. C.; Mehdi, S. Q.; Maher, E. R.

    2012-01-01

    Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin. There are six genes currently known to be associated with the disease. Exome sequencing data for two affected individuals with ichthyosis from two apparently unrelated consanguineous Pakistani families was analysed. Potential candidate mutations were analysed in additional family members to determine if the putative mutation segregated with disease status. A novel mutation (c.G4676T, p.Gly1559Val) in ABCA12 occurred at a highly conserved residue, segregated with disease status in both families, and was not detected in 143 control chromosomes. Genotyping with microsatellite markers demonstrated a partial common haplotype in the two families, and a common founder mutation could not be excluded. Comparison to previously reported cases was consistent with the hypothesis that severe loss of function ABCA12 mutations are associated with Harlequin Ichthyosis and missense mutations are preferentially associated with milder phenotypes. In addition to identifying a possible founder mutation, this paper illustrates how advances in genome sequencing technologies could be utilised to rapidly elucidate the molecular basis of inherited skin diseases which can be caused by mutations in multiple disease genes. PMID:24278723

  14. A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis.

    PubMed

    Walsh, D M; Shah, S H; Simpson, M A; Morgan, N V; Khaliq, S; Trembath, R C; Mehdi, S Q; Maher, E R

    2012-01-01

    Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin. There are six genes currently known to be associated with the disease. Exome sequencing data for two affected individuals with ichthyosis from two apparently unrelated consanguineous Pakistani families was analysed. Potential candidate mutations were analysed in additional family members to determine if the putative mutation segregated with disease status. A novel mutation (c.G4676T, p.Gly1559Val) in ABCA12 occurred at a highly conserved residue, segregated with disease status in both families, and was not detected in 143 control chromosomes. Genotyping with microsatellite markers demonstrated a partial common haplotype in the two families, and a common founder mutation could not be excluded. Comparison to previously reported cases was consistent with the hypothesis that severe loss of function ABCA12 mutations are associated with Harlequin Ichthyosis and missense mutations are preferentially associated with milder phenotypes. In addition to identifying a possible founder mutation, this paper illustrates how advances in genome sequencing technologies could be utilised to rapidly elucidate the molecular basis of inherited skin diseases which can be caused by mutations in multiple disease genes. PMID:24278723

  15. Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers

    PubMed Central

    Zaki, Maha S; Sattar, Shifteh; Massoudi, Rustin A; Gleeson, Joseph G

    2011-01-01

    Disorders within the “ciliopathy” spectrum include Joubert (JS), Bardet–Biedl syndromes (BBS), and nephronophthisis (NPHP). Although mutations in single ciliopathy genes can lead to these different syndromes between families, there have been no reports of phenotypic discordance within a single family. We report on two consanguineous families with discordant ciliopathies in sibling. In Ciliopathy-672, the older child displayed dialysis-dependent NPHP whereas the younger displayed the pathognomonic molar tooth MRI sign (MTS) of JS. A second branch displayed two additional children with NPHP. In Ciliopathy-1491, the oldest child displayed classical features of BBS whereas the two younger children displayed the MTS. Importantly, the children with BBS and NPHP lacked MTS, whereas children with JS lacked obesity or NPHP, and the child with BBS lacked MTS and NPHP. Features common to all three disorders included intellectual disability, postaxial polydactyly, and visual reduction. The variable phenotypic expressivity in this family suggests that genetic modifiers may determine specific clinical features within the ciliopathy spectrum. © 2011 Wiley Periodicals, Inc. PMID:22002901

  16. [Unverricht-Lündborg disease: clinical and electrophysiologic study of 19 Maghreb families].

    PubMed

    Gouider, R; Ibrahim, S; Fredj, M; Gargouri, A; Saïdi, H; Ouezzani, R; Malafosse, A; Yahiaoui, M; Grid, D; Mrabet, A

    1998-07-01

    We describe clinical, electrophysiological and genetic features in 44 patients with Unverricht-Lündborg disease from 19 families living in North African countries (Tunisia, Algeria and Morocco). The mean age of patients was 25.3 years; mean age was at onset 11.3 years. The disease began more frequently with seizures (91 per cent) or myoclonus (80 p. 100) than ataxia (16 p. 100). Subsequently myoclonus and generalized seizures were present in all patients, cerebellar signs were absent in four cases. EEG findings included normal background activity (90 p. 100), spontaneous fast generalized spikes (93 p. 100) and photosensitivity (70 p. 100). Antiepileptic polytherapy (clonazepam and/or phenobarbital and/or valporic acid) was used in 84 per cent of cases. Antiepileptic drugs were more effective in controlling epileptic seizures (less than one seizure/month in 60 p. 100) than myocloni which persisted daily in 64 p. 100 of cases. Mean duration of the disease was 13.5 years. One patient died of status epilepticus. Consanguinity was noted in 17 families (first degree in 15 families). Linkage to chromosome 21q 22.3 was confirmed in 11 families. We noted an inter and intrafamilial variability of clinical signs and disease course. PMID:9773083

  17. Family medicine curriculum

    PubMed Central

    Klein, Douglas; Schipper, Shirley

    2008-01-01

    PROBLEM ADDRESSED The Family Medicine Residency Program at the University of Alberta has used academic sessions and clinical-based teaching to prepare residents for private practice. Before the new curriculum, academic sessions were large group lectures given by specialists. These sessions lacked consistent quality, structured topics, and organization. OBJECTIVE OF PROGRAM The program was designed to improve the quality and consistency of academic sessions by creating a new curriculum. The goals for the new curriculum included improved organizational structure, improved satisfaction from the participants, improved resident knowledge and confidence in key areas of family medicine, and improved performance on licensing examinations. PROGRAM DESCRIPTION The new curriculum is faculty guided but resident organized. Twenty-three core topics in family medicine are covered during a 2-year rotating curriculum. Several small group activities, including problem-based learning modules, journal club, and examination preparation sessions, complement larger didactic sessions. A multiple-source evaluation process is an essential component of this new program. CONCLUSION The new academic curriculum for family medicine residents is based on a variety of learning styles and is consistent with the principles of adult learning theory. This structured curriculum provides a good basis for further development. Other programs across the country might want to incorporate these ideas into their current programming. PMID:18272637

  18. Family Nutrition In Action Family Nutrition Program Vol. 6 No. 6

    E-print Network

    Florida, University of

    Family Nutrition In Action Family Nutrition Program Vol. 6 No. 6 November/December 2001 and Families and USDA Food and Nutrition Services, in collaboration with state, county, and local agencies teaspoon . . . . . . . . . poultry seasoning 1. Preheat oven to 350 degrees. 2. Meanwhile, heat a large

  19. Homozygosity and severity of phenotypic presentation in a CADASIL family.

    PubMed

    Vinciguerra, Claudia; Rufa, Alessandra; Bianchi, Silvia; Sperduto, Antonio; De Santis, Monica; Malandrini, Alessandro; Dotti, Maria Teresa; Federico, Antonio

    2014-01-01

    Most of causative mutations of the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are missense point mutations either creating or deleting one cysteine residue, inherited in a heterozygous state. Only few homozygous patients are reported to date and some of them showed phenotypic peculiarities. We here describe a CADASIL family in which a member showed homozygous mutation and compare its clinical profile with five subjects throughout three generation of the pedigree, carrying the same mutation in heterozygosity. The index patient was a 44-year-old Italian man, born from consanguineous parents (first cousins). Symptoms started at 23 years and progressing with recurrent ischemic stroke episode. Diffuse leukoencephalopathy and a severe cognitive impairment were evident, GOMs were detected in skin specimens and a homozygous p.Cys183Ser mutation of the NOTCH3 gene was found. Among the other five heterozygous relatives for the same mutation, both parents developed stroke in advanced age and all the others were clinically asymptomatic. We discuss these findings in relationship to previous data from the literature in CADASIL and in other dominant neurological disorders. PMID:24277202

  20. Transforming Training. Families Matter.

    ERIC Educational Resources Information Center

    Morgan, Gwen

    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…

  1. Familial disseminated comedones without dyskeratosis: report of an affected family and review of the literature.

    PubMed

    Cheng, Mao-Jie; Chen, Wen-Chieh; Happle, Rudolf; Song, Zhi-Qiang

    2014-01-01

    Familial dyskeratotic comedones is a well-known genodermatosis with autosomal dominant inheritance, characterized by numerous comedones with dyskeratosis in histology and scar formation in consequence. In contrast, cases of familial disseminated comedones without dyskeratosis appear to be extremely rare. So far, only three reports could be found in the literature. Here we describe a large family affected with disseminated comedones superimposed by moderate to severe acne. Remarkably, no signs of dyskeratosis were found in the histology taken from 2 of the 15 affected family members. We propose the diagnostic term 'familial disseminated comedones without dyskeratosis' to underline its familial and disseminated characteristics and discuss the differentiation with other similar entities. PMID:24819025

  2. Family to Family: Reconstructing Foster Care.

    ERIC Educational Resources Information Center

    Annie E. Casey Foundation, Greenwich, CT.

    Family foster care, the mainstay of public child welfare systems, is in critical need of reform. Following a discussion of the efforts of the Annie E. Casey Foundation to assist communities and agencies in confronting this crisis, this paper describes the Family to Family Initiative, a system founded on the view that family foster care reform must…

  3. Homolog of the polymorphic 4q35 FSHD locus (p13E-11; D4F104S1) maps to 10qter; exclusion as a second FSHD locus in a large Danish family

    SciTech Connect

    Frants, R.R.; Bakker, E.; Vossen, R.H.A.M. [and others

    1994-09-01

    Facioscapulohumeral muscular dystrophy (FSHD) has been mapped to 4q35 and shown to be associated with deletions that are detectable using probe p13E-11 (D4104S1). These deletions reside within highly polymorphic restriction fragments (20-300 kb) which can normally only be resolved completely using pulsed-field gel electrophoresis (PFGE). Family studies showed that p13E-11 detects two non-allelic loci, only one of which originates from 4q35 origin. In 20 CEPH families, 8 individuals were identified showing a `small` EcoRI fragment detectable by conventional Southern blotting. Linkage analysis allowed assignment of these fragments to 10qter (D10S212 and D10S180) in all families tested. Since FSHD shows genetic heterogeneity, this second p13E-11 locus on 10qter became an interesting candidate as a second FSHD family did not provide evidence for linkage on chromosome 10qter.

  4. Genetic homogeneity in Sjoegren-Larsson syndrome: Linkage to chromosome 17p in families of different non-Swedish ethnic origins

    SciTech Connect

    Rogers, G.R.; Lee, M.; Compton, J.G. [and others

    1995-11-01

    Sjoegren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder that is characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. Three United States families, three Egyptian families, and one Israeli Arab family were investigated for linkage of the SLS gene to a region of chromosome 17. Pairwise and multipoint linkage analysis with nine markers mapped the SLS gene to the same region of the genome as that reported in Swedish SLS pedigrees. Examination of recombinants by haplotype analysis showed that the gene lies in the region containing the markers D17S953, D17S805, D17S689, and D17S842. D17S805 is pericentromeric on 17p. Patients in two consanguineous Egyptian families were homozygous at the nine marker loci tested, and another patient from a third family was homozygous for eight of the nine, suggesting that within each of these families the region of chromosome 17 carrying the SLS gene is identical by descent. Linkage of the SLS gene to chromosome 17p in families of Arabic, mixed European, Native American, and Swedish descent provides evidence for a single SLS locus and should prove useful for diagnosis and carrier detection in worldwide cases. 25 refs., 4 figs., 1 tab.

  5. Career Compass Advisory Committees by Field and Family Field Family

    E-print Network

    Jacobs, Lucia

    Experience Design IT Advisory Committee #2 Systems/Infra-Structure Administration Communications & Network Communications Electronic Communications * Due to large number of IT families, each IT Advisory Committee Technology IT Security Business/Technical Support IT Advisory Committee #3 Information Systems Business

  6. ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

    PubMed

    Mitui, M; Bernatowska, E; Pietrucha, B; Piotrowska-Jastrzebska, J; Eng, L; Nahas, S; Teraoka, S; Sholty, G; Purayidom, A; Concannon, P; Gatti, R A

    2005-11-01

    Ataxia-telangiectasia (A-T) is an early onset autosomal recessive ataxia associated with characteristic chromosomal aberrations, cell cycle checkpoint defects, cancer susceptibility, and sensitivity to ionizing radiation. We utilized the protein truncation test (PTT), and single strand conformation polymorphism (SSCP) on cDNA, as well as denaturing high performance liquid chromatography (dHPLC) on genomic DNA (gDNA) to screen for mutations in 24 Polish A-T families. Twenty-six distinct Short Tandem Repeat (STR) haplotypes were identified. Three founder mutations accounted for 58% of the alleles. Three-quarters of the families had at least one recurring (shared) mutation, which was somewhat surprising given the low frequency of consanguinity in Poland. STR haplotyping greatly improved the efficiency of mutation detection. We identified 44 of the expected 48 mutations (92%): sixty-nine percent were nonsense mutations, 23% caused aberrant splicing, and 5% were missense mutations. Four mutations have not been previously described. Two of the Polish mutations have been observed previously in Amish and Mennonite A-T patients; this is compatible with historical records. Shared mutations shared the same Single Nucleotide Polymorphism (SNP) and STR haplotypes, indicating common ancestries. The Mennonite mutation, 5932 G>T, is common in Russian A-T families, and the STR haplovariants are the same in both Poland and Russia. Attempts to correlate phenotypes with genotypes were inconclusive due to the limited numbers of patients with identical mutations. PMID:16266405

  7. [Extreme degree familial hypobetalipoproteinemia caused by hypothetic double heterozygosity in a subject with severe mental deficiency].

    PubMed

    Acocella, M; Cossio, M; Barucci, M; Ciardetti, A; Archi, G; Rossini, R; Bassini, E; Lusetti, W

    1984-01-01

    We described the case of an adult male patient, seriously mentally deficient, hospitalised in Psychiatric Hospital for a period of many years, suffering from a familial hypobetalipoproteinemia with extremely low levels of plasmatic betalipoproteins. The patient has been followed and tested several times over a period of six years. Numerous members of his family, which is part of a restricted ethnic nucleus in a locality (Iolo) of the Comune of Prato in the Provincia of Florence, were examined and tested too. Consanguinity between his parents is not demonstrable. The diagnosis of homozygous hypobetalipoproteinemia is discarded, but it does not seem that the heterozygous one is to be accepted as weel. On the ground of the existence of two syndromes which are quite unlike each other, but both explainable as form of familial heterozygous hypobetalipoproteinemia, one of them present in his father, the other one in his mother and in the maternal relatives as in the patient's brother respectively, a hypothesis of a double heterozygosis could be formulated. Extant is the support of the recent literature data, depending on them the possibility of making the hypothesis of a multiplicity of the genes regulating the apolipoprotein B synthesis. We do not exclude that the peculiarity of the event of a double heterozygosis can also be directly responsible of the patient's serious mental deficiency, being at the same time more supportable the hypothesis of a encephalopathy in his early childhood. PMID:6545600

  8. Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.

    PubMed

    Levy, E N; Shen, Y; Kupelian, A; Kruglyak, L; Aksentijevich, I; Pras, E; Balow, J E; Linzer, B; Chen, X; Shelton, D A; Gumucio, D; Pras, M; Shohat, M; Rotter, J I; Fischel-Ghodsian, N; Richards, R I; Kastner, D L

    1996-03-01

    This report presents refined genetic mapping data for the gene causing familial Mediterranean fever (FMF), a recessively inherited disorder of inflammation. We sampled 65 Jewish, Armenian, and Arab families and typed them for eight markers from chromosome 16p. Using a new algorithm that permits multipoint calculations for a dense map of markers in consanguineous families, we obtained a maximal LOD score of 49.2 at a location 1.6 cM centromeric to D16S246. A specific haplotype at D16S283-D16S94-D16S246 was found in 76% of Moroccan and 32% of non-Moroccan Jewish carrier chromosomes, but this haplotype was not overrepresented in Armenian or Arab FMF carriers. Moreover, the 2.5-kb allele at D16S246 was significantly associated with FMF in Moroccan and non-Moroccan Jews but not in Armenians or Arabs. Since the Moroccan Jewish community represents a relatively recently established and genetically isolated founder population, we analyzed the Moroccan linkage-disequilibrium data by using Luria-Delbrück formulas and simulations based on a Poisson branching process. These methods place the FMF susceptibility gene within 0.305 cM of D16S246 (2-LOD-unit range 0.02-0.64 cM). PMID:8644712

  9. Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246

    SciTech Connect

    Levy, E. N.; Aksentijevich, I.; Pras, E. [National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD (United States)] [and others

    1996-03-01

    This report presents refined genetic mapping data for the gene causing familial Mediterranean fever (FMF), a recessively inherited disorder of inflammation. We sampled 65 Jewish, Armenian, and Arab families and typed them for eight markers from chromosome 16p. Using a new algorithm that permits multipoint calculations for a dense map of markers in consanguineous families, we obtained a maximal LOD score of 49.2 at a location 1.6 cM centromeric to D16S246. A specific haplotype at D16S283-D16S94-D16S246 was found in 76% of Moroccan and 32% of non-Moroccan Jewish carrier chromosomes, but this haplotype was not overrepresented in Armenian or Arab FMF carriers. Moreover, the 2.5-kb allele at D16S246 was significantly associated with FMF in Moroccan and non-Moroccan Jews but not in Armenians or Arabs. Since the Moroccan Jewish community represents a relatively recently established and genetically isolated founder population, we analyzed the Moroccan linkage-disequilibrium data by using Luria-Delbruck formulas and simulations based on a Poisson branching process. These methods place the FMF susceptibility gene within 0.305 cM of D16S246 (2-LOD-unit range 0.02-0.64 cM). 41 refs., 3 figs., 5 tabs.

  10. Familial Hypercholesterolaemia

    PubMed Central

    Marais, A David

    2004-01-01

    Familial hypercholesterolaemia (FH), defined as the heritable occurrence of severe hypercholesterolaemia with cholesterol deposits in tendons and premature heart disease, is caused by at least four genes in sterol and lipoprotein pathways and displays varying gene-dose effects. The genes are the low-density lipoprotein (LDL) receptor, apolipoprotein (apo) B, proprotein convertase subtilisin/kexin 9, and the autosomal recessive hypercholesterolaemia (ARH) adaptor protein. All of these disorders have in common defective clearance of LDL within a complex system of lipid and lipoprotein metabolism and regulation. Normal cellular cholesterol and lipoprotein metabolism is reviewed before describing the disorders, their metabolic derangements and their clinical effects. FH is classified as two simplified phenotypes of disease according to the severity of the metabolic derangement. The dominantly inherited heterozygous phenotype comprises defects in the LDL receptor, apoB100, and neural apoptosis regulatory cleavage protein. The homozygous phenotype is co-dominant in defects of the LDL receptor, and occurs also as the ARH of adapter protein mutations. Defective binding of apoB100 does not result in a significant gene dose effect, but enhances the severity of heterozygotes for LDL receptor mutations. The genetic diagnosis of FH has provided greater accuracy in definition and detection of disease and exposes information about migration of populations. All of these disorders pose a high risk of atherosclerosis, especially in the homozygous phenotype. Studies of influences on the phenotype and responses to treatment are also discussed in the context of the metabolic derangements. PMID:18516203

  11. Bounding CKM Mixing with a Fourth Family

    SciTech Connect

    Chanowitz, Michael S.

    2009-04-22

    CKM mixing between third family quarks and a possible fourth family is constrained by global fits to the precision electroweak data. The dominant constraint is from nondecoupling oblique corrections rather than the vertex correction to Z {yields} {bar b}b used in previous analyses. The possibility of large mixing suggested by some recent analyses of FCNC processes is excluded, but 3-4 mixing of the same order as the Cabbibo mixing of the first two families is allowed.

  12. Collisional Formation and Modeling of Asteroid Families

    E-print Network

    Michel, Patrick; Durda, Daniel D; Jutzi, Martin; Asphaug, Erik

    2015-01-01

    In the last decade, thanks to the development of sophisticated numerical codes, major breakthroughs have been achieved in our understanding of the formation of asteroid families by catastrophic disruption of large parent bodies. In this review, we describe numerical simulations of asteroid collisions that reproduced the main properties of families, accounting for both the fragmentation of an asteroid at the time of impact and the subsequent gravitational interactions of the generated fragments. The simulations demonstrate that the catastrophic disruption of bodies larger than a few hundred meters in diameter leads to the formation of large aggregates due to gravitational reaccumulation of smaller fragments, which helps explain the presence of large members within asteroid families. Thus, for the first time, numerical simulations successfully reproduced the sizes and ejection velocities of members of representative families. Moreover, the simulations provide constraints on the family dynamical histories and on...

  13. The Changing Family Structure.

    ERIC Educational Resources Information Center

    Bernard van Leer Foundation Newsletter, 1993

    1993-01-01

    This newsletter issue contains feature articles and short reports on how and why family structures are undergoing substantial change in many parts of the world. These articles include: (1) "The Changing Family Structure," a review of how families are changing and why; (2) "Peru: Families in the Andes"; (3) "Thailand: Families of the Garbage Dump";…

  14. Boston University Family Medicine

    E-print Network

    Spence, Harlan Ernest

    Boston University Family Medicine Global Health CollaborativeFamily Medicine As part of the Department of Family Medicine at Boston University, the Collaborative is committed to introducing and improving Family Medicine programs around the world. Family Medicine is a holistic specialty that attends

  15. Family Reading Night

    ERIC Educational Resources Information Center

    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…

  16. Choosing a Family Doctor

    MedlinePLUS

    ... who takes care of the whole family. Family doctors create caring relationships with patients and their families. They really get know their patients. They listen to them and help them make the right health care decisions. What do family doctors do? Family doctors take care of the physical, ...

  17. Families with Gifted Adolescents

    ERIC Educational Resources Information Center

    Schilling, Susanne R.; Sparfeldt, Jorn; Rost, Detlef H.

    2006-01-01

    Studies of families with gifted adolescents have revealed conflicting results. Adolescents, mothers, and fathers of 84 families with a gifted adolescent and of 95 families with a non-gifted adolescent evaluated their family system independently. Dependent variables were cohesion, democratic family style (adaptability), organisation, achievement…

  18. Family boundary characteristics, work-family conflict and life satisfaction: A moderated mediation model.

    PubMed

    Qiu, Lin; Fan, Jinyan

    2014-10-21

    Although work-family border and boundary theory suggest individuals' boundary characteristics influence their work-family relationship, it is largely unknown how boundary flexibility and permeability mutually influence work-family conflict and subsequent employee outcomes. Moreover, the existing work-family conflict research has been mainly conducted in the United States and other Western countries. To address these gaps in the work-family literature, the present study examines a moderated mediation model regarding how family boundary characteristics may influence individuals' work-family conflict and life satisfaction with a sample of 278 Chinese full-time employees. Results showed that employees' family flexibility negatively related to their perceived work interference with family (WIF) and family interference with work (FIW), and both these two relationships were augmented by individuals' family permeability. In addition, WIF mediated the relationship between family flexibility and life satisfaction; the indirect effect of family flexibility on life satisfaction via WIF was stronger for individuals with higher family permeability. The theoretical and managerial implications of these findings are discussed. PMID:25331584

  19. Effects of family connection and family individuation.

    PubMed

    Bell, Linda G; Bell, David C

    2009-09-01

    This prospective longitudinal study explores the differential effects of family connection and family individuation measured during adolescence on later midlife well-being. Home interviews were held in the 1970s with 99 families of 245 adolescents. Connection and individuation in the family system were measured by self-report, a projective exercise, and coding of taped family interactions. Twenty-five years later, telephone interviews were conducted with 54 men and 120 women (representing 82 families) who had been adolescents in the 1970s interviews. Family connection (measured during adolescence) was associated with self-acceptance and positive relationships at midlife partially mediated by marriage. Family individuation (measured during adolescence) was associated with personal autonomy at midlife. PMID:19946806

  20. Family members' influence on family meal vegetable choices

    PubMed Central

    Wenrich, Tionni R.; Brown, J. Lynne; Miller-Day, Michelle; Kelley, Kevin J.; Lengerich, Eugene J.

    2010-01-01

    Objective Characterize the process of family vegetable selection (especially cruciferous, deep orange, and dark green leafy vegetables); demonstrate the usefulness of Exchange Theory (how family norms and past experiences interact with rewards and costs) for interpreting the data. Design Eight focus groups, two with each segment (men/women vegetable-likers/dislikers based on a screening form). Participants completed a vegetable intake form. Setting Rural Appalachian Pennsylvania. Participants 61 low-income, married/cohabiting men (n=28) and women (n=33). Analysis Thematic analysis within Exchange Theory framework for qualitative data. Descriptive analysis, t-tests and chi-square tests for quantitative data. Results Exchange Theory proved useful for understanding that regardless of sex or vegetable-liker/disliker status, meal preparers see more costs than rewards to serving vegetables. Past experience plus expectations of food preparer role and of deference to family member preferences supported a family norm of serving only vegetables acceptable to everyone. Emphasized vegetables are largely ignored due to unfamiliarity; family norms prevented experimentation and learning through exposure. Conclusions and Implications Interventions to increase vegetable consumption of this audience could 1) alter family norms about vegetables served, 2) change perceptions of past experiences, 3) reduce social and personal costs of serving vegetables and 4) increase tangible and social rewards of serving vegetables. PMID:20452288

  1. Family Child Care Licensing Study, 1997.

    ERIC Educational Resources Information Center

    Children's Foundation, Washington, DC.

    This report details the findings of an annual survey of state child care regulatory agencies. The survey gathered data on both small family child care homes and group or large family child care homes in each of the 50 states, the District of Columbia, Puerto Rico and the Virgin Islands. The report's introduction lists the survey categories and…

  2. Resources for the Family Day Care Provider.

    ERIC Educational Resources Information Center

    Brown, Jeanne, Ed.; And Others

    The 34 brief articles in this sourcebook for family day care providers are presented mainly in two large sections: (1) management of family day care business, and (2) interaction with children. Many of these articles pose and provide answers to questions that are likely to occur to child caregivers, such as "Does the IRS really expect me to keep…

  3. Characterization of familial breast cancer in Saudi Arabia

    PubMed Central

    2015-01-01

    Background The contribution of genetic factors to the development of breast cancer in the admixed and consanguineous population of the western region of Saudi Arabia is thought to be significant as the disease is early onset. The current protocols of continuous clinical follow-up of relatives of such patients are costly and cause a burden on the usually over-stretched medical resources. Discovering the significant contribution of BRCA1/2 mutations to breast cancer susceptibility allowed for the design of genetic tests that allows the medical practitioner to focus the care for those who need it most. However, BRCA1/2 mutations do not account for all breast cancer susceptibility genes and there are other genetic factors, known and unknown that may play a role in the development of such disease. The advent of whole-exome sequencing is offering a unique opportunity to identify the breast cancer susceptibility genes in each family of sufferers. The polymorphisms/mutations identified will then allow for personalizing the genetic screening tests accordingly. To this end, we have performed whole-exome sequencing of seven breast cancer patients with positive family history of the disease using the Agilent SureSelect™ Whole-Exome Enrichment kit and sequencing on the SOLiD™ platform. Results We have identified several coding single nucleotide variations that were either novel or rare affecting genes controlling DNA repair in the BRCA1/2 pathway. Conclusion The disruption of DNA repair pathways is very likely to contribute to breast cancer susceptibility in the Saudi population. PMID:25923920

  4. Transient familial hyperbilirubinemia

    MedlinePLUS

    Transient familial hyperbilirubinemia is a metabolic disorder that is passed down through families. Babies with this disorder ... Transient familial hyperbilirubinemia is an inherited disorder. It occurs when the body does not properly break down ( ...

  5. Family Reunion Health Guide

    MedlinePLUS

    ... HEALTH GUIDE 1. Send a Kidney Health Message Hi Family, I came across this information and thought ... mails to family members. Before the Reunion 1. Hi family! Taking care of your kidneys is important. ...

  6. Familial lipoprotein lipase deficiency

    MedlinePLUS

    Familial lipoprotein lipase deficiency is a group of rare genetic disorders in which a person lacks a protein needed ... Familial lipoprotein lipase deficiency is caused by a defective gene that is passed down through families. Persons with this ...

  7. Family Activities for Fitness

    ERIC Educational Resources Information Center

    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.

  8. Understanding Fragile Families

    MedlinePLUS

    ... of life for fragile families living in major cities today. The overall aims of Fragile Family are ... 000 couples in 20 of the nation’s largest cities. Of the families that participated in the study, ...

  9. Distribution of Mycorrhizal Types among Alpine Vascular Plant Families on the Beartooth Plateau, Rocky Mountains, U.S.A., in Reference to Large-Scale Patterns in Arctic–Alpine Habitats

    Microsoft Academic Search

    Cathy L. Cripps; Leslie H. Eddington

    2005-01-01

    Mycorrhizal symbiosis is critical to plant establishment and survival, influences plant community structure and function, and could be particularly important in harsh environments such as the alpine tundra. An examination of 53 vascular plant species in 21 families from alpine areas of the Beartooth Plateau (Rocky Mountains) revealed most were mycorrhizal (68%) and four distinct types of symbioses were present.

  10. Incidence of Wife Abuse in Incestuous Families.

    ERIC Educational Resources Information Center

    Truesdell, Donna L.; And Others

    1986-01-01

    Investigates a largely uncharted dynamic in the literature--the incidence of wife abuse among incestuous families--and suggests that professional caregivers reevaluate conventional treatment modalities that are based on certain assumptions regarding the mother's role in incest. (Author)

  11. Solanaceae (Nightshade family) Horsenettle

    E-print Network

    Solanaceae (Nightshade family) Horsenettle Solanum carolinense L. Life cycle Spreading to erect to identifying Christmas tree weeds. #12;Solanaceae (Nightshade family) Horsenettle continued Flowers and fruit

  12. Family assessment in the medical setting.

    PubMed

    Keitner, Gabor I

    2012-01-01

    Acute and chronic illness exists in a social context. A biopsychosocial assessment should include an evaluation of the patient's social situation, the nature of the patient's interpersonal connections, and his/her family's functioning. Families can influence health by direct biological pathways, health behavior pathways, and psychophysiological pathways. There are a large number of family-based risks factors as well as many protective relational factors that influence the onset and course of illness. A family assessment is the first step in determining both the need for further intervention and the specific areas of family life that might need to be addressed. A family assessment provides information about the social substrate for the evolution of the presenting complaint as well as information to better understand the patient's problems. There are many ways to assess families, and there are a variety of family assessment instruments to help with the assessments. Clinician will be best served by becoming familiar and comfortable with at least one assessment model that is consistent, structured, and evaluates a wide range of family functions. Such an assessment can be incorporated into routine clinical care. A good family assessment can be therapeutic in and of itself even if the decision is made that no further family intervention is indicated. PMID:22056906

  13. A Conceptual and Empirical Basis for Including Medical Family Therapy Services in Cancer Care Settings

    Microsoft Academic Search

    Jennifer L. Hodgson; Susan L. McCammon; Ryan J. Anderson

    2011-01-01

    Psychosocial interventions in oncology settings have largely been individually and group-based despite evidence that a family-based approach fills a treatment gap in the cancer care experience. Medical Family Therapists are trained to address the family as the unit of treatment and provide services that consider family dynamics, reorganization of couple and family roles, and broader systemic issues. This article describes

  14. Effects of Consanguinity, Exposure to Pregnant

    E-print Network

    Galef Jr., Bennett G.

    ; paternal behavior; Mongolian gerbils; exposure effects; induction Male Mongolian gerbils (Meriones unguiculatus) in our laboratory respond positively to conspeci®c young 2 to 20 days of age by licking

  15. Familial hypercholesterolemia in Brazil.

    PubMed

    Dos Santos, J E; Zago, M A

    2003-11-01

    The Brazilian population has heterogeneous ethnic origins and is unevenly distributed in a country of continental dimensions. In addition to the Portuguese colonists until the end of the World War II Brazil received almost 5 million immigrants who settled mainly in the south and southeast. This features of the Brazilian population have two important consequences for the inherited diseases that are associated with an ethnic background: their frequencies are different in various regions of the country reflecting a variety of ethnic origins and variable degrees of admixtures. There was no report about the molecular basis of hypercholesterolemia in Brazil until our report in 1996 that the Lebanese allele is the most common cause of the disease in our country: 10 out of the 30 families were of Arab origin, and the Lebanese allele was detected in 9 of the 10 unrelated families of Arab origin. In addition, the abnormal gene is associated with the same haplotype at the LDL-R locus in all but one family, suggesting single origin for this mutation. Recently we described seven mutations in exons 4, 7, 12 and 14 and a new mutation in exon 15. In another region of our state, eight mutation already described and seven new mutations were described and interesting no common mutations were find. We can conclude that the complex history and structure of the Brazilian population, which was formed by the contribution of a large number of ethnic components that are in a state of increasing miscegenation, is reflected in the frequency and regional distribution of the more common hereditary diseases. PMID:14615271

  16. Predictors of postbereavement depressive symptomatology among family caregivers of cancer patients.

    PubMed

    Kurtz, M E; Kurtz, J C; Given, C W; Given, B

    1997-01-01

    The present study investigated two aspects of the sequelae of recent bereavement among family caregivers following the death of their cancer patient: (1) the extent to which depressive symptomatology among family caregivers measured following the death of their patient could be predicted by their levels of depressive symptomatology in the months prior to death, their physical health, the setting in which the patient's death occurred, patient age, gender of the caregiver, consanguinity, financial stress, social support from family and friends during the terminal stage, impact of caregiving activities on caregiver's daily schedule, caregiver optimism, perceived esteem attributed to caregiving, the time between the prebereavement assessment and death, and the time between death and the postbereavement assessment; and (2) whether these same explanatory variables could successfully differentiate those bereaved caregivers whose psychological health improved during the first 3 months following bereavement from those who did not improve. A sample of 114 family caregivers of cancer patients were surveyed for approximately 3 months before and 3 months after the death of their patient. A multivariate analysis of variance using the regression approach was undertaken to determine the primary predictors of postbereavement depressive symptomatology. In addition, a logistic regression analysis was used to attempt to predict those caregivers whose depressive symptomatology would improve during the postbereavement period. Critical factors in determining levels of postbereavement depressive symptomatology were caregiver optimism, prebereavement depressive symptomatology, and levels of social support from friends. Caregiver optimism and prebereavement depressive symptomatology were important in predicting whether caregivers' depressive symptomatology would improve or not. Physicians must be aware that if the social history of a patient reveals that he/ she is anticipating or has recently experienced the loss of a family member for whom they were the primary caregiver, this information may be critical in determining whether the illness behavior exhibited by the patient has medical or psychosocial origins. PMID:9010990

  17. Black Families. Third Edition.

    ERIC Educational Resources Information Center

    McAdoo, Harriette Pipes, Ed.

    The chapters of this collection explore the experiences of black families in the United States and Africa, today and in the past. They are: (1) "African American Families: A Historical Note" (John Hope Franklin); (2) "African American Families and Family Values" (Niara Sudarkasa); (3) "Old-Time Religion: Benches Can't Say 'Amen'" (William Harrison…

  18. Traceability for system families

    Microsoft Academic Search

    Detlef Streitferdt

    2001-01-01

    System families are an idea of software reuse in a specific problem domain. Existing methods have little requirements engineering support for system family development. This short paper proposes a requirements metamodel for system family development. Traceability throughout model elements is a necessary precondition for preserving the consistency of the complete family model during development and is a main issue in

  19. FAMILY MEDICINE* Definition Of

    E-print Network

    Finley Jr., Russell L.

    FAMILY MEDICINE* Definition Of Family medicine is the medical specialty which provides continuing the biological, clinical and behavioral sciences. The scope of family medicine encompasses all ages, both sexes, each organ system and every disease entity. (1986) (2003) Quality Healthcare In Family Medicine Quality

  20. Family Participation in Policymaking.

    ERIC Educational Resources Information Center

    Caplan, Elizabeth, Ed.; Blankenship, Kelly, Ed.; McManus, Marilyn, Ed.

    1998-01-01

    This bulletin focuses on family participation in mental health policymaking and highlights state efforts to increase family involvement. Articles include: (1) "Promoting Family Member Involvement in Children's Mental Health Policy Making Bodies," which describes how different states are promoting family member involvement in various statutory and…

  1. Families in Transition .

    ERIC Educational Resources Information Center

    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…

  2. Family Allowances and Fertility: Socioeconomic Differences

    PubMed Central

    SCHELLEKENS, JONA

    2009-01-01

    This article explores socioeconomic differences in the effect of family allowances on fertility. Although several studies have examined the relationship between cash benefits and fertility, few studies have addressed the possible differential effects of cash benefits on families of different income or education levels. I reconstructed the birth histories of women in the past two Israeli censuses of 1983 and 1995 to study socioeconomic differences in the effect of family allowances up to the seventh parity. The results indicate that family allowances have a significant effect at every parity. Using female education as an indicator of socioeconomic status, I find that socioeconomic status is a significant modifier of the effect of family allowances. Family allowances seem to have a relatively large impact on more-educated women. PMID:19771939

  3. Familial colorectal cancer.

    PubMed

    Lung, M S; Trainer, A H; Campbell, I; Lipton, L

    2015-05-01

    Identifying individuals with a genetic predisposition to developing familial colorectal cancer (CRC) is crucial to the management of the affected individual and their family. In order to do so, the physician requires an understanding of the different gene mutations and clinical manifestations of familial CRC. This review summarises the genetics, clinical manifestations and management of the known familial CRC syndromes, specifically Lynch syndrome, familial adenomatous polyposis, MUTYH-associated neoplasia, juvenile polyposis syndrome and Peutz-Jeghers syndrome. An individual suspected of having a familial CRC with an underlying genetic predisposition should be referred to a familial cancer centre to enable pre-test counselling and appropriate follow up. PMID:25955461

  4. La maladie de Wilson: à propos d'un cas familial

    PubMed Central

    Mouzari, Yassine; Abdelkhalek, Ryme; El Asri, Fouad; Reda, Karim; Oubaaz, Abedelbarre

    2014-01-01

    La maladie de Wilson est une maladie rare autosomique récessive due à une diminution de l’élimination du cuivre dans la bile et son accumulation toxique dans les organes en particulier le cerveau, le foie, la cornée et le rein d'où son hétérogénéité clinique. Les manifestations ophtalmologiques représentent des critères diagnostiques importants. Le traitement précoce permet une réversibilité des déficits; non traitée la maladie de Wilson est létale. Nous rapportons un cas familial de la maladie de Wilson: deux membres d'une fratrie issus d'un mariage consanguin étaient atteints de la maladie de Wilson dans ses trois formes cliniques: hépatique, neurologique et psychiatrique. Les manifestations ophtalmologiques de la maladie de Wilson sont l'anneau de Keyser Fleischer et la cataracte en tournesol, l'atteinte hépatique se manifeste par une hépatite chronique et une cirrhose, la symptomatologie neurologique et psychiatrique est variée; on retrouve à l'IRM une atteinte prédominante aux noyaux gris centraux. Le diagnostic positif de la maladie de Wilson est fait sur la triade: présence de l'anneau de Keyser Fleischer, céruloplasmine sanguine basse et augmentation de la cuprurie de 24 heures. Le traitement précoce basé sur les chélateurs de cuivre permet la réversibilité des lésions. Le pronostic dépend de la sévérité de la maladie lors du diagonstic et de la qualité de la prise en charge. Ce cas familial de la maladie de Wilson démontre l'importance du dépistage des membres pré symptomatique par un examen ophtalmologique et général rigoureux. PMID:25426217

  5. Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

    PubMed Central

    Moldenhauer Minillo, Renata; Sobreira, Nara; de Fatima de Faria Soares, Maria; Jurgens, Julie; Ling, Hua; Hetrick, Kurt N.; Doheny, Kimberly F.; Valle, David; Brunoni, Decio; Alvarez Perez, Ana B.

    2014-01-01

    Autosomal recessive osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, and WNT1) are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by SERPINF1, currently associated with OI type VI (MIM 172860). Here, we report a consanguineous Brazilian family in which multiple individuals from at least 4 generations are affected with a severe form of OI, and we also report an unrelated individual from the same small city in Brazil with a similar but more severe phenotype. In both families the same homozygous SERPINF1 19-bp deletion was identified which is not known in the literature yet. We described intra- and interfamilial clinical and radiological phenotypic variability of OI type VI caused by the same homozygous SERPINF1 19-bp deletion and suggest a founder effect. Furthermore, the SERPINF1 genotypes/phenotypes reported so far in the literature are reviewed. PMID:25565926

  6. Singing about family planning.

    PubMed

    Emah, E

    1993-01-01

    The Nigerian Family Health services project teamed up with the Johns Hopkins University's Population Communication Services to produce songs called "Choices" and "Wait for Me." The songs, which were about sexual responsibility, were performed by popular music stars King Sunny Ade and Onyeka Onwenu and appeared under King Sonny Ade's long playing albums in 1989. Teaching sexual responsibility through song was suggested in focus group discussions. Findings indicated that young people were responsive to messages about sexual responsibility, postponing sex or saying "no," male sexual responsibility, and children by informed choice and not chance among married couples. An impact assessment of the songs was conducted in February, 1991. Survey findings revealed that 64% of urban and 22% of rural respondents recalled having heard the songs and seen the videos. 48% of urban youth discussed the songs with friends, and 27% discussed the songs with sexual partners. 90% of respondents reported agreement with the message that couples should have only the number of children that they can care for, and that couples should practice family planning. The target population that was affected most by the songs was aged less than 35 years. The strategy of using songs to teach youth responsible parenting appears to be a reliable strategy for mass education and mobilization. There is mass support from among members of the National Council for Women's Societies, the Planned Parenthood Federation of Nigeria, and Coca Cola Corporation, as well as the public at large. PMID:12318626

  7. FamilySearch

    NSDL National Science Digital Library

    1999-01-01

    Although still in beta phase, this impressive new genealogical resource from the Church of Jesus Christ of Latter-Day Saints (the Mormons) has immediately received the attention and praise of genealogical researchers. The providers have not publicly stated whether the site will offer access to the entirety of their 2 billion name genealogical record repository, but it already contains over 300 million names in two indexes, searchable by ancestor name. Users may also search a host of other genealogy Websites and the site's own SourceGuide of research outlines by keyword. In addition, the site offers a large collection of browseable and searchable categories of genealogical research sites, such as Census and Lists, Land and Property, Migration, Military, Vital Records, and others. Registered users can collaborate with others working on similar projects, add Websites, and have their research preserved in The Pedigree Resource File. While the Internet already holds a multitude of family research sites, when it is complete, FamilySearch will almost certainly be regarded as the first and most comprehensive place to begin a search for one's ancestors.

  8. Paucity of family planning.

    PubMed

    Hawkins, C

    1988-04-01

    A wall chart compiled by the Population Crisis Committee of Washington D.C. called "World Access to Birth Control" is described. The chart compares developing countries and developed countries with respect to need of effective contraception, using data from the World Fertility Surveys. Up to 250 million women need contraception; a substantial percentage want no more children, over half in several large countries. The chart ranks the United Kingdom as 1st in providing family planning services, information, education and advertising. All of the developed countries were considered good except Russia and Romania, although some had deficiencies, such as Japan for lacking sterilization services. The U.S. ranked 7th, failing to provide women the full range of contraceptive methods, to provide adequate sex education and services to adolescents, and to publish information and adequate advertising about birth control. The USSR was placed 14th on the list of 15 because of poor quality and erratic supplies. Among the developing countries, Libya, Kampuchea and Laos were cited as having no services whatsoever. In contrast, several Asian national family planning programs, notably China, Taiwan, Singapore, South Korea and Hong Kong, had such excellent programs that fertility had declined over 30% in 15 years. In China, fertility has fallen 50% in that time. PMID:12179876

  9. Linkage Analysis in Families with Joubert Syndrome Plus Oculo-Renal Involvement Identifies the CORS2 Locus on Chromosome 11p12-q13.3

    PubMed Central

    Keeler, Lesley C.; Marsh, Sarah E.; Leeflang, Esther P.; Woods, Christopher G.; Sztriha, László; Al-Gazali, Lihadh; Gururaj, Aithala; Gleeson, Joseph G.

    2003-01-01

    Joubert syndrome (JS) is an autosomal recessive developmental brain condition characterized by hypoplasia/dysplasia of the cerebellar vermis and by ataxia, hypotonia, oculomotor apraxia, and neonatal breathing dysregulation. A form of JS that includes retinal dysplasia and cystic dysplastic kidneys has been differentiated from other forms of JS, called either “JS type B” or “cerebello-oculo-renal syndrome” (CORS), but the genetic basis of this condition is unknown. Here, we describe three consanguineous families that display CORS. Linkage analysis defines a novel locus on chromosome 11p12-q13.3, with a maximum two-point LOD score of Z=5.2 at the marker D11S1915. Therefore, the cerebello-oculo-renal form of JS is a distinct genetic entity from the Joubert syndrome 1 (JBTS1) locus described elsewhere, in which there is minimal involvement of retina or kidney. We suggest the term “CORS2” for this new locus. PMID:12917796

  10. Portuguese immigrant families: the impact of acculturation.

    PubMed

    Morrison, Marie; James, Susan

    2009-03-01

    Portuguese immigrants to North America represent a large ethnic group with unique family therapy needs. The present study investigates acculturation and the family lives of Portuguese (Azorean) immigrants in Canada. Methods of analytic induction and constant comparison from grounded theory were used to examine transcripts of interviews with 21 Azorean immigrant women and 28 Azorean immigrant men. A model emerged wherein (a) immigration and acculturation act as stressors on the family unit, as described by the categories Process of Change and Family Relationships; (b) family members adopt generation- and gender-specific acculturative strategies, as illustrated by the categories Duas Culturas (Two Cultures) and Falando Portuges (Speaking Portuguese); and (c) as family members acculturate, discords arise and are resolved according to the cultural traits different members have adopted. The categories Discord Resolution and Preocupação (Preoccupations) illustrate this last dynamic. Implications for family therapy with immigrant families include an indication for community-level interventions, emphasis on confidentiality, awareness of acculturation stress and different acculturative strategies within the family, and aiding the family in the negotiation and integration of a new bicultural reality. PMID:19378651

  11. Families: It's About Time! = Les familles ont besoin de temps!

    ERIC Educational Resources Information Center

    McCloskey, Donna, Ed.

    1997-01-01

    This document presents a broad view of the Great Canadian Family--all of Canada's families, large and small, "traditional" and otherwise. The issue also examines the challenges of family life at the end of the twentieth century, in two major articles. The first article, "Of Wings and Roots" (Alan Mirabelli and Robert Glossop), presents an overview…

  12. Familial adenomatous polyposis

    PubMed Central

    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, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. When the APC mutation in the family has been identified, genetic testing of all first-degree relatives should be performed. Presymptomatic and prenatal (amniocentesis and chorionic villous sampling), and even preimplantation genetic testing is possible. Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome). Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. Duodenal cancer and desmoids are the two main causes of mortality after total colectomy, they need to be identified early and treated. Upper endoscopy is necessary for surveillance to reduce the risk of ampullary and duodenal cancer. Patients with progressive tumors and unresectable disease may respond or stabilize with a combination of cytotoxic chemotherapy and surgery (when possible to perform). Adjunctive therapy with celecoxib has been approved by the US Food and Drug Administration and the European Medicines Agency in patients with FAP. Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program. PMID:19822006

  13. Liberal Values and a Liberal Education: The Effect of a Family Sociology Course on Undergraduate Students' Family Values.

    ERIC Educational Resources Information Center

    Magdol, Lynn

    2003-01-01

    Describes undergraduate family values surveys conducted at the beginning and end of a family sociology course at a large public university. States surveys were used to assess change in family values and the implications of the change. Focuses on issues such as diversity, student employment, liberal education, and socialization processes. (KDR)

  14. Family Focused. Stories from Family Resource Centers in Jefferson County, Kentucky.

    ERIC Educational Resources Information Center

    Chandler, Betsy; And Others

    In 1990 the Kentucky General Assembly passed one of the most sweeping educational reform measures in the nation's history. Among the provisions of the Kentucky Education Reform Act (KERA) was the creation of family resource and youth services centers in or near schools with large numbers of at-risk students. Family resource centers are primarily…

  15. Nontraditional family romance.

    PubMed

    Corbett, K

    2001-07-01

    Family stories lie at the heart of psychoanalytic developmental theory and psychoanalytic clinical technique, but whose family? Increasingly, lesbian and gay families, multiparent families, and single-parent families are relying on modern reproductive technologies to form families. The contemplation of these nontraditional families and the vicissitudes of contemporary reproduction lead to an unknowing of what families are, including the ways in which psychoanalysts configure the family within developmental theory. This article focuses on the stories that families tell in order to account for their formation--stories that include narratives about parental union, parental sexuality, and conception. The author addresses three constructs that inform family stories and that require rethinking in light of the category crises posed by and for the nontraditional family: (1) normative logic, (2) family reverie and the construction of a family romance, and (3) the primal scene. These constructs are examined in tandem with detailed clinical material taken from the psychotherapy of a seven-year-old boy and his two mothers. PMID:11491437

  16. Family assessment: Centripetal and centrifugal family systems

    Microsoft Academic Search

    Martha Kelsey-smith; W. Robert Beavers M. D

    1981-01-01

    A consideration of interactional style is useful to both researchers and clinicians interested in family assessment. This paper offers data and process evaluation scales designed to determine family interactional style, conceptualized as a continuum ranging from centripetal (CP) to centrifugal (CF), and containing at the midpoint a mixed area in which facets of both the CP and the CF styles

  17. Family Literacy for Family-Oriented People.

    ERIC Educational Resources Information Center

    Mountainbird, Pauline

    A Massachusetts family literacy project, the Northampton Family Literacy Project, is described, in which adult English-as-a-Second-Language (ESL) learners enrolled in a community educational center in order to learn English as their children enrolled in a child care program at the local library. Both groups were involved in language activities,…

  18. Invest in Family*

    PubMed Central

    Shah, Nilesh; De Sousa, Avinash

    2015-01-01

    The family is an integral part of one's life. It is very essential that every individual employed or unemployed invests time therein. The family is a source of support and growth for an individual, and the lack of family support or loneliness may be a causative factor in the genesis of psychiatric disorders, especially depression. In India, family plays a paramount role when it comes to mental health of the individual. Tips on how one should invest time in one's family along with the role of a family in one's personal and social structure are discussed. PMID:25838732

  19. Family psychology and family therapy: Comparisons and contrasts

    Microsoft Academic Search

    Luciano Labate

    1992-01-01

    This paper distinguishes between family psychology as a still nonexistent academic discipline and family therapy as a profession and as a method of intervention. Family psychology is interested in the whole functionality-dysfunctionality continuum, while family therapy is mainly concerned with dysfunctionalities. While family psychology focuses reductionistically on the relationship of the individual within the family, family therapy focuses holistically on

  20. Gender, Marriage, and Family in Postindustrial Society: An International Perspective

    Microsoft Academic Search

    Ryan Sheppard

    \\u000a The family retains a central position across societies, despite massive changes wrought largely by globalization and other\\u000a macrosocial forces. As a basic social unit and institution, the family performs many functions for both its members and the\\u000a larger society, including reproduction, socialization of children, economic support, and care for the young, the ill, and\\u000a the aged. The family’s relative ability

  1. Organizational Work–Family Resources as Predictors of Job Performance and Attitudes: The Process of Work–Family Conflict and Enrichment

    Microsoft Academic Search

    Heather N. Odle-Dusseau; Thomas W. Britt; Tiffany M. Greene-Shortridge

    2012-01-01

    The goal of the current study was to test a model where organizational resources (aimed at managing work and family responsibilities) predict job attitudes and supervisor ratings of performance through the mechanisms of work–family conflict and work–family enrichment. Employees (n = 174) at a large metropolitan hospital were surveyed at two time periods regarding perceptions of family supportive supervisor behaviors

  2. Yarkovsky/YORP chronology of asteroid families

    NASA Astrophysics Data System (ADS)

    Vokrouhlický, D.; Brož, M.; Bottke, W. F.; Nesvorný, D.; Morbidelli, A.

    2006-05-01

    Asteroid families are the byproducts of catastrophic collisions whose fragments form clusters in proper semimajor axis, eccentricity, and inclination space. Although many families have been observed in the main asteroid belt, only two very young families, Karin and Veritas, have well-determined ages. The ages of other families are needed, however, if we hope to infer information about their ejection velocity fields, space weathering processes, etc. In this paper, we developed a method that allows us to estimate the ages of moderately young asteroid families (approximately in between 0.1 and 1 Gyr). We apply it to four suitable cases—Erigone, Massalia, Merxia, and Astrid—and derive their likely ages and approximate ejection velocity fields. We find that Erigone and Merxia were produced by large catastrophic disruption events (i.e., parent body ?100 km) that occurred approximately 280 and 330 Myr ago, respectively. The Massalia family was likely produced by a cratering event on Asteroid (20) Massalia less than 200 Myr ago. Finally, the Astrid family, which was produced by the disruption of a 60-70 km asteroid, is 100-200 Myr old, though there is considerable uncertainty in this result. We estimate that the initial ejection velocities for these families were only a few tens of meters per second, consistent with numerical hydrocode models of asteroid impacts. Our results help to verify that asteroid families are constantly undergoing dynamical orbital evolution from thermal (Yarkovsky) forces and spin vector evolution from thermal (YORP) torques.

  3. Dual-Earner Families.

    ERIC Educational Resources Information Center

    Aldous, Joan, Ed.

    1981-01-01

    Presents eight articles focused on dual-earner families in terms of career choices, family adjustment problems, role conflicts, marital relationships, housework activities, and preschool children's sex role identities. (HLM)

  4. Contacting My Donor Family

    MedlinePLUS

    ... Donor Family Newsroom Minorities Contacting My Donor Family Writing anything can be a challenge. Staring at a ... can take to get started. The process of writing your letter may take some time, but at ...

  5. About Familial Pulmonary Fibrosis

    MedlinePLUS

    ... or sibling) have the diagnosis of an Idiopathic Interstitial Pneumonia (IIP) and at least one of the family members has the most common form of IIP, Idiopathic Pulmonary Fibrosis (IPF). However, family members can be second degree ...

  6. Autosomal recessive disorders among Arabs: an overview from Kuwait

    Microsoft Academic Search

    A S Teebi

    1994-01-01

    Kuwait has a cosmopolitan population of 1.7 million, mostly Arabs. This population is a mosaic of large and small minorities representing most Arab communities. In general, Kuwait's population is characterized by a rapid rate of growth, large family size, high rates of consanguineous marriages within the Arab communities with low frequency of intermarriage between them, and the presence of genetic

  7. Family Issues for the Nineties.

    ERIC Educational Resources Information Center

    Mirabelli, Alan

    This presentation reviews the characteristics of the Canadian family at present. Discussion focuses on divorce, family structure, reproductive technology, fertility, family size, family mobility, family support, government role, women's participation in the labor force, daily family routines, television viewing, work and the family, the need for…

  8. Gender in family therapy supervision

    Microsoft Academic Search

    Thorana S. Nelson

    1991-01-01

    While gender has taken its place as a fundamental construct in family therapy theory, little has been written about gender in family therapy supervision. This paper attempts to redefine gender as it pertains to families, family therapy, and family therapy supervision; call attention to aspects of gender as they apply to training in family therapy and family therapy supervision; and

  9. Collisions and Gravitational Reaccumulation: Forming Asteroid Families and Satellites

    Microsoft Academic Search

    Patrick Michel; Willy Benz; Paolo Tanga; Derek C. Richardson

    2001-01-01

    Numerical simulations of the collisional disruption of large asteroids show that although the parent body is totally shattered, subsequent gravitational reaccumulation leads to the formation of an entire family of large and small objects with dynamical properties similar to those of the parent body. Simulations were performed in two different collisional regimes representative of asteroid families such as Eunomia and

  10. Restorying family therapy

    Microsoft Academic Search

    Shlomo Ariel

    1996-01-01

    This article describes a multi-systemic model of therapy developed by the author over the past decade and summarizes the main products of this project: Explication of key family systems notions, strategic family play therapy, multi-systemic therapy, and culturally-competent family therapy. The model incorporates beyond the family system, culture, wider ecosystems, psychodynamics, and the individual's neuropsychological, cognitive, and socio-emotional development. The

  11. Family Systems Theory

    Microsoft Academic Search

    Stephen M. Gavazzi

    \\u000a Family systems theory provides users with a holistic framework that centers attention on the interactive and bidirectional\\u000a nature of relationships within families with adolescents. The family systems framework enjoys widespread use in the family\\u000a intervention literature, as well as having been increasingly employed within the child and adolescent developmental literatures.\\u000a In the present chapter, attention is paid to a number

  12. Family Outcomes: Policy & Practice

    E-print Network

    Zuna, Nina

    2005-05-05

    Government Performance and Results Act (1993) APR Program goal: Enhance the development of infants and toddlers (0-3) with disabilities and support their families in meeting their special needs 1 Family Indicator: The percentage of families participating... Kansas Division of Early Childhood February 24, 2005 Family Outcomes: Policy & Practice Jean Ann Summers PhD, Beach Center on Disability Nina Zuna Doctoral Student, Beach Center on Disability Kerry Lida Doctoral Student, Beach Center...

  13. Research in family planning: 1.

    PubMed

    1982-01-01

    This article illustrates the main trends of the activities of the World Health Organization's Special Programme of Research, Development and Research Training in Human Reproduction during the years 1980-81. In 1981, 80 countries, including 54 developing countries, were involved in the program. The Special Programme explores how to involve the community in family planning. 2 factors which clearly emerged from some of the studies were the conflict between the high esteem in which fertility is held, and the realization of the economic constraint of a large family; another factor is the widespread acceptance in many developing countries of extramarital or relatives' children within a family. Obviously, the community, rather than the family or the individual, should be the target for education and information. Protocols for studies, training manuals, mechanics for supervision and evaluation were prepared by the program. The very good results of 2 pilot studies, in Thailand and in Turkey, training midwives and nurses to provide medical services, have prompted the extension of these services at a national level with highly satisfactory results. Projects to integrate fertility regulation services into the primary health care system of a country have been developed in several countries; the most advanced of these projects, tested in Sri Lanka, was so successful that its inclusion on a national scale was recommended. Studies on the cost of illegally induced abortion on national health services have prompted changes in family planning legislation in many countries. Other studies have shown the effects on maternal and child health of the timing, spacing, and number of pregnancies. Shortage of trained manpower is still a great constraint on the development of services and research in family planning. PMID:7147930

  14. Graduate School INTERNATIONAL FAMILY

    E-print Network

    Stuart, Steven J.

    to generate, diffuse, and apply knowledge needed to strengthen communities' capacity for family support graduates as (1) scholars in interdisciplinary institutes or academic departments on child and family rights as applied to children and families around the world, the program builds a comparative

  15. The Family Leukemia Association

    ERIC Educational Resources Information Center

    Pollitt, Eleanor

    1976-01-01

    An association of families of children with leukemia, the Family Leukemia Association (FLA), was recently established in Toronto. This paper discusses (a) philosophy of the FLA; (b) formative years of this organization; (c) problems encountered by leukemic children and their families; and (d) the FLA's past and future educational and social…

  16. The Family Farm Project

    NSDL National Science Digital Library

    1996-01-01

    Kenyon College's Family Farm Project, "a three-year study exploring family farming and community life in Knox County, Ohio," presents an intimate multimedia view of the daily life of the family farm, which some consider a vanishing institution in America.

  17. Fatherhood and Family Support.

    ERIC Educational Resources Information Center

    Goetz, Kathy, Ed.

    1996-01-01

    On the assumption that fathers have been relatively absent from family support programs, this publication of the Family Resource Coalition addresses the role of fathers in family support programs, examines the impact of fathers on their children, and describes programs involving fathers successfully. Articles include: (1) "What's Behind the…

  18. Families for All Children.

    ERIC Educational Resources Information Center

    Shoultz, Bonnie, Ed.; Kalyanpur, Maya, Ed.

    This bulletin reflects the commitment of Syracuse University's Center on Human Policy to the idea that children belong with families. The bulletin contains a policy statement which recommends; that all children, regardless of disability, belong with families and need enduring relationships with adults; that families with severely disabled children…

  19. Family Counseling Psychology.

    ERIC Educational Resources Information Center

    Levant, Ronald F., ed.

    1983-01-01

    Describes programs for family counseling which use psychological-educational and skills training methods to remediate individual and family problems or enhance family life. The six articles discuss client-centered skills training, behavioral approaches, cognitive behavioral marital therapy, Adlerian parent education, and couple communication. (JAC)

  20. Families and Fragile Syndrome

    E-print Network

    Rau, Don C.

    Health and Human Development (NICHD) family album about Fragile X syndrome. As a health research agency is designed to give you and your family some general information about Fragile X syndrome, its causes, its or actors. They are individuals with Fragile X syndrome and their families. Through these images, you'll see

  1. Valuing Families. Activity Guide.

    ERIC Educational Resources Information Center

    Glashagel, Jerry; Glashagel, Char

    Developed as a resource for family life education, this activity guide can be used to lead experiential learning situations for intergenerational groups by a counselor, in a course, in a family organization like the YMCA, or in the home. The goals of this guide are to increase the self-esteem of each person and to strengthen the family as a human…

  2. Explorations in Family Policy

    ERIC Educational Resources Information Center

    Kamerman, Sheila B.; Kahn, Alfred J.

    1976-01-01

    Despite a national ideology that the formulation of a family policy would represent unacceptable government intervention, recognition is growing that no modern industrial society can avoid policies that affect the family. The real choice is between a deliberate, coherent family policy and one of inconsistency and mischance. (Author)

  3. Employment Characteristics of Families

    NSDL National Science Digital Library

    The Bureau of Labor Statistics site offers data on the employment characteristics of American families. The statistics include data on employment and unemployment in families by race, relationship, sex, marital status, presence of children in the family, and presence of children under three, among others. The data can be accessed from a table of contents or reviewed in an extensive news release.

  4. Year of the Family.

    ERIC Educational Resources Information Center

    California Agriculture, 1994

    1994-01-01

    This special issue focuses on problems and challenges confronting the California family and on research and extension efforts to provide at least partial answers. Research briefs by staff include "Challenges Confront the California Family" (state trends in poverty, divorce, single-parent families, child abuse, delinquency, teen births, limited…

  5. Familial aggregation and childhood blood pressure.

    PubMed

    Wang, Xiaoling; Xu, Xiaojing; Su, Shaoyong; Snieder, Harold

    2015-01-01

    There is growing concern about elevated blood pressure (BP) in children. The evidence for familial aggregation of childhood BP is substantial. Twin studies have shown that a large part of the familial aggregation of childhood BP is due to genes. The first part of this review provides the latest progress in gene finding for childhood BP, focusing on the combined effects of multiple loci identified from the genome-wide association studies on adult BP. We further review the evidence on the contribution of the genetic components of other family risk factors to the familial aggregation of childhood BP including obesity, birth weight, sleep quality, sodium intake, parental smoking, and socioeconomic status. At the end, we emphasize the promise of using genomic-relatedness-matrix restricted maximum likelihood (GREML) analysis, a method that uses genome-wide data from unrelated individuals, in answering a number of unsolved questions in the familial aggregation of childhood BP. PMID:25432901

  6. Familial Aggregation and Childhood Blood Pressure

    PubMed Central

    Xu, Xiaojing; Su, Shaoyong; Snieder, Harold

    2015-01-01

    There is growing concern about elevated blood pressure (BP) in children. The evidence for familial aggregation of childhood BP is substantial. Twin studies have shown that a large part of the familial aggregation of childhood BP is due to genes. The first part of this review provides the latest progress in gene finding for childhood BP, focusing on the combined effects of multiple loci identified from the genome-wide association studies on adult BP. We further review the evidence on the contribution of the genetic components of other family risk factors to the familial aggregation of childhood BP including obesity, birth weight, sleep quality, sodium intake, parental smoking, and socioeconomic status. At the end, we emphasize the promise of using genomic-relatedness-matrix restricted maximum likelihood (GREML) analysis, a method that uses genome-wide data from unrelated individuals, in answering a number of unsolved questions in the familial aggregation of childhood BP. PMID:25432901

  7. Family Instability and Child Well-Being*

    PubMed Central

    Fomby, Paula; Cherlin, Andrew J.

    2011-01-01

    Past research suggests that children who experience multiple transitions in family structure may face worse developmental outcomes than children raised in stable two-parent families and perhaps even children raised in stable, single-parent families. However, multiple transitions and negative child outcomes may be associated because of common causal factors such as parents’ antecedent behaviors and attributes. Using a nationally-representative, two-generation longitudinal survey that includes detailed information on children’s behavioral and cognitive development, family history, and mother’s attributes prior to the child’s birth, we examine these alternative hypotheses. Our results suggest that, for white children, the association between the number of family structure transitions and cognitive outcomes is largely explained by mother’s prior characteristics but that the association between the number of transitions and behavioral outcomes may be causal in part. We find no robust effects of number of transitions for black children. PMID:21918579

  8. Improving Youth Mental Health through Family-Based Prevention In Family Homeless Shelters.

    PubMed

    Lynn, Cynthia J; Acri, Mary C; Goldstein, Leah; Bannon, William; Beharie, Nisha; McKay, Mary M

    2014-09-01

    This exploratory study examines changes in suicidal ideation among a sample (N = 28) of homeless youth, ages 11-14, residing within family shelters in a large metropolitan area. Changes in suicidal ideation from pretest to posttest are compared across two group approaches to delivering HIV prevention. Youth and their families participating in the HOPE Family Program, incorporating a family strengthening approach, are compared to those receiving a traditional health education-only approach. Multivariate analyses reveal that youth in the HOPE Family Program were 13 times more likely to report a decrease of suicidal ideation. These findings indicate that health education programs integrating a family strengthening approach hold promise for positively impacting mental health outcomes for vulnerable youth. PMID:25157200

  9. Family planning and married fulfillment.

    PubMed

    Burke, C

    1989-01-01

    Large numbers of children typified the Catholic family until the 60s when there was a general societal change towards smaller families. This change, which even affected Catholics, is thought to derive from 3 sources. The population explosion and its complimentary disadvantages, a change towards more egocentric values, and an increase in the importance of material values. The Western world is aging fast and fertility rates are falling to the point that an overall effect of population reduction is occurring. Children have become only an optional, instead of necessary as in previous generations, part of most couples' lifestyles in West. Careers, social status, gadgets, vacations, ease, and comfort are now commonly seen as more self- fulfilling than children. The Catholic church believes that the only reasons for family planning are natural methods used out of necessity. Vatican II clearly states that the purpose of marriage is the raising of children. It has become the opinion of many that marriage and children are only accidentally connected and that the 2 are not bound inseparably. It is the authors contention that this dualistic view of marriage and children is false. The author feels that through a marriage people can draw each other out of themselves and towards their children. Sacrificing oneself for one's children is the natural end to marriage. The author admits that family planning has been a great good to the world for the couples that need it to survive, but that couples that can have children should do so. PMID:12179688

  10. Asteroid family ages

    E-print Network

    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...

  11. The importance of the family system in family business

    Microsoft Academic Search

    Ramona K. Zachary

    2011-01-01

    Purpose – Most researchers overlook the family system in the pursuit of family business studies and research. They mistakenly have assumed that the study of only the family business is sufficient to understand the influence and effect of the family itself. The importance the family system is documented as well as the evolution of family business as a field of

  12. Intimacy and Family Consent: A Confucian Ideal.

    PubMed

    Lee, Shui Chuen

    2015-08-01

    In the West, mainstream bioethicists tend to appreciate intimate relationships as a hindrance to individual autonomy. Scholars have even argued against approaching a mother to donate a kidney to save the life of her child; the request, they claim, is too manipulative and, thereby, violates her autonomy. For Chinese bioethicists, such a moral analysis is absurd. The intimate relationship between mother and child establishes strong mutual obligations. It creates mutual moral responsibilities that often require sacrifices for each other. This paper argues that while aiding others is a moral duty, helping one's family is a much stronger duty and poses no threat to one's autonomy. For Confucianism, empathetic intimate feelings, the heart and mind of ren, rest at the root of morality. It requires that we, as moral beings, assume duties to relieve the suffering of others. The more intimate the relationship the stronger the obligation to assist. The family is a closely knitted moral community. Family members often share living resources, mutual experiences, and a sense of identity. Family members act as a social unit, and, ordinarily, mutual obligations among members have priority over duties to those outside of the family. For Confucian bioethics, family-based consent to medical treatment is regarded as natural and reasonable. Family-based decision making is a taken-for-granted norm of social life. While close family members have priority, Confucianism extends such obligations outward toward members of the extended family and the society at large. There is a general principle of gradation of love, which reflects different degrees of personal intimacy and, therefore, of moral obligation. In this fashion, Confucianism seeks to treat the whole of society as one extended family. Hence, in bioethics, mutual responsibility and family-based consent are regarded as basic principles. Through a series of case discussions, this paper illustrates that atomistic individual-based autonomy offers but a poor response to bioethical issues. PMID:26142440

  13. The case for family medicine in Pakistan.

    PubMed

    Sabzwari, Saniya Raghib

    2015-06-01

    The specialty of Family Medicine enjoys a special position in the medical practice of the West, serving as one of the key primary care specialties. Family physicians act as providers of first contact catering to the medical needs of the entire family in all aspects of preventive, curative and rehabilitative stages of illness and to health maintenance. The growth of this specialty, however, has lagged behind in Pakistan for various reasons. Having both a high burden of communicable and non-communicable diseases in Pakistan; family physicians should form the frontline force in dealing with these health issues. Several success stories of Family Medicine forming the base of medical services have been noted, validating its presence and propagation. The World Health Organisation also supported this in its 2008 report that discusses primary care for all. Growth of family practice needs to be encouraged at both undergraduate and postgraduate levels to ensure adequate training and provision of quality of medical care to our society. The need of the hour is that both medical institutions and the government develop policies to strengthen Family Medicine and incentivise family practice in rural and urban settings to cater to the needs of society at large. PMID:26060167

  14. FA (Fanconi Anemia) Family Newsletter

    MedlinePLUS

    ... our mailing list form . View our current newsletter: Spring 2015 - Family Newsletter #57 Past newsletters: Fall 2014 - Family Newsletter #56 Spring 2014 - Family Newsletter #55 Fall 2013 - Family Newsletter # ...

  15. Family Literacy Schools, teachers and

    E-print Network

    Ellis, Randy

    1 Family Literacy Schools, teachers and family literacy . . . . . . . . . . . . . . 4 A snapshot of National Family Literacy . . . . . . . . . . . . . 6 A representative community organization . . . 7 Supporting regional cooperation . . . . . . . . . . . . . . . 8 Family Literacy: Programming that Works

  16. FAMILIES FIRST: Keys to Successful Family Functioning Family Roles

    E-print Network

    Liskiewicz, Maciej

    develop- ment of children and adults. Examples of this role are a parent helping a child make it through, par- ents are expected to teach, discipline, and provide for their children. And children are expected to cooperate and respect their parents. As family members age, they take on additional roles, such as becoming

  17. The Fungal Defensin Family Enlarged

    PubMed Central

    Wu, Jiajia; Gao, Bin; Zhu, Shunyi

    2014-01-01

    Fungi are an emerging source of peptide antibiotics. With the availability of a large number of model fungal genome sequences, we can expect that more and more fungal defensin-like peptides (fDLPs) will be discovered by sequence similarity search. Here, we report a total of 69 new fDLPs encoded by 63 genes, in which a group of fDLPs derived from dermatophytes are defined as a new family (fDEF8) according to sequence and phylogenetic analyses. In the oleaginous fungus Mortierella alpine, fDLPs have undergone extensive gene expansion. Our work further enlarges the fungal defensin family and will help characterize new peptide antibiotics with therapeutic potential. PMID:25230677

  18. [Treatment of homozygous familial hypercholesterolemia with LDL-apheresis on a 4-year-old child].

    PubMed

    Lefort, B; Giraud, C; Saulnier, J-P; Bott, L; Gambert, C; Sosner, P; Hankard, R

    2009-12-01

    Homozygous familial hypercholesterolemia (HFH) is a rare genetic disease associated with increased atherosclerosis, resulting in premature death near the age of 20 years. Treatment requires the LDL-apheresis system. M, born from a consanguineous union, suffers from HFH (total-cholesterol=12.29 g/l, LDL-cholesterol=9.65 g/l). Diet and drug treatment was not associated with decreased LDL-cholesterol. At the age of 4.5 years (body weight: 16.7 kg), M began treatment with LDL-apheresis. Apheresis treatment was given every 2 weeks using the Direct Adsorption of LIpoprotein (DALI system, a process that involves total-blood filtration. During the first 26 sessions, the mean reduction in LDL-cholesterol was 67+/-12%, while HDL-cholesterol decreased by only 17+/-11%. Mean LDL-cholesterol concentration decreased from 6.54+/-0.93 g/l (before apheresis) to 2.21+/-0.95 g/l (after apheresis). Apart from iron deficiency anemia, no major side effects were observed. LDL-apheresis using the DALI system is associated with significant reductions in LDL-cholesterol (similar to reports from the literature) without major side effects, even in a child weighing less than 20 kg. A long term, multinational (European) study is needed to confirm these results. PMID:19766469

  19. Refined mapping of the gene causing Familial Mediterranean fever, by linkage and homozygosity studies

    SciTech Connect

    Aksentijevich, I.; Pras, E.; Gruberg, L.; Helling, S.; Prosen, L.; Pras, M.; Kastner, D.L. (National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD (United States)); Shen, Y.; Holman, K.; Sutherland, G.R.; Richards, R.I. (Adelaide Children's Hospital (Australia)); Ramsburg, M.; Dean, M. (Laboratory of Viral Carcinogenesis, Frederick, MD (United States)); Amos, C.I. (Laboratory of Skin Biology, Bethesda, MD (United States))

    1993-08-01

    Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by attacks of fever and serosal inflammation; the biochemical basis is unknown. The authors recently reported linkage of the gene causing FMF (designated [open quotes]MEF[close quotes]) to two markers on chromosome 16p. To map MEF more precisely, they have now tested nine 16p markers. Two-point and multipoint linkage analysis, as well as a study of recombinant haplotypes, placed MEF between D16S94 and D16S80, a genetic interval of about 9 cM. They also examined rates of homozygosity for markers in this region, among offspring of consanguineous marriages. For eight of nine markers, the rate of homozygosity among 26 affected inbred individuals was higher than that among their 20 unaffected sibs. Localizing MEF more precisely on the basis of homozygosity rates alone would be difficult, for two reasons: First, the FMF carrier frequency increases the chance that inbred offspring could have the disease without being homozygous by descent at MEF. Second, several of the markers in this region are relatively nonpolymorphic, with a high rate of homozygosity, regardless of their chromosomal location. 30 refs., 6 figs., 2 tabs.

  20. A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family

    PubMed Central

    Alasti, Fatemeh; Sadeghi, Abdorrahim; Sanati, Mohammad Hossein; Farhadi, Mohammad; Stollar, Elliot; Somers, Thomas; Van Camp, Guy

    2008-01-01

    Microtia, a congenital deformity manifesting as an abnormally shaped or absent external ear, occurs in one out of 8,000–10,000 births. We ascertained a consanguineous Iranian family segregating with autosomal-recessive bilateral microtia, mixed symmetrical severe to profound hearing impairment, and partial cleft palate. Genome-wide linkage analysis localized the responsible gene to chromosome 7p14.3-p15.3 with a maximum multi-point LOD score of 4.17. In this region, homeobox genes from the HOXA cluster were the most interesting candidates. Subsequent DNA sequence analysis of the HOXA1 and HOXA2 homeobox genes from the candidate region identified an interesting HOXA2 homeodomain variant: a change in a highly conserved amino acid (p.Q186K). The variant was not found in 231 Iranian and 109 Belgian control samples. The critical contribution of HoxA2 for auditory-system development has already been shown in mouse models. We built a homology model to predict the effect of this mutation on the structure and DNA-binding activity of the homeodomain by using the program Modeler 8v2. In the model of the mutant homeodomain, the position of the mutant lysine side chain is consistently farther away from a nearby phosphate group; this altered position results in the loss of a hydrogen bond and affects the DNA-binding activity. PMID:18394579

  1. The Growth of a Family

    PubMed Central

    Carroll, June C.; Biringer, Anne

    1991-01-01

    Caring for a family during pregnancy and birth is an ideal opportunity for family physicians to assess family functioning and help the family adjust to the birth of a new child. Stress and support systems can influence the course of pregnancy, including obstetric and perinatal outcomes. A family-centered approach can help patients during this critical stage of family development. PMID:21229107

  2. Family dynamics and family psychotherapy of psychosomatic.

    PubMed

    Wirsching, M; Stierlin, H

    1979-01-01

    Family therapy of psychosomatic disorders is oftern difficult and comparable to the therapy of psychotic patients. Nonetheless, the results published today by authors such as Minuchin and Selvini and our own experiences are promising indeed. We have found that what seemed to be a deep-rooted psychic structure changed rapidly and enduringly if the relationship field changed. Amelioration of symptoms is in many cases easily attained if they are understood in their function within a relational system. Also, we regard the system or family approach as a chance for medical practice. The general practioner who usually deals with family systems has, in our view, an ideal position to bring about change if he uses his authority and trust properly. He has to obtain a positive, not pathology-oriented view and should use family and social resources in spite of engaging in an often fruitless and endless contact with the designated patient, which only serves to maintain and even to increase the homeostatic lock of the family system. PMID:550166

  3. Robertsonian translocation between chromosomes (no.21/14) in relation to the history of spontaneous abortion in a family

    PubMed Central

    Hasanzadeh-NazarAbadi, Mohammad; Baghbani, Fatemeh; Namazi, Iman; Mirzaee, Salmeh

    2014-01-01

    Background: Approximately 205 million pregnancies occur each year in the worldwide. On the other hand, Spontaneous abortion has been reported in 15-20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation carriers specially 21-14 are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. In order to search for balanced chromosomal rearrangement and cytogenetic disorders, 10 members of related family with consanguinity marriage with the history of recurrent miscarriage were assessed. Case: Cytogenetic evaluation on the basis G-banding technique at high resolution was performed in 3 couples and their related family with the history of idiopathic RSA in order to postulate any balanced chromosomal rearrangement. Conclusion: six members of them appeared with robertsonian balanced translocation between chromosome No.21 to No. 14 with the karyotype of 45, XX, t (14, 21) and 45, XY, t (14, 21), which this results are in agreement with several similar works which claimed that the risk of spontaneous abortion in couples with balanced chromosomal rearrangements is higher compared with general population. Considering to results of present study, it seems as if the cytogenetic analysis of couples with the history of recurrent abortions should be suggested compulsory to estimate the probable presence of any chromosomal rearrangement. This offer wills valuable information for genetic consulting. PMID:25408709

  4. State of family planning.

    PubMed

    Schreiber, Courtney A; Traxler, Sarah

    2015-06-01

    Family planning and reproductive health services are uniquely impacted by policy and politics in the United States. Recent years have witnessed an unprecedented number of abortion restrictions, and research funding has decreased in related areas. Despite this, both the science and the implementation of improved family planning and abortion methods have progressed in the past decade. This article reviews the current state of family planning, as well as technologies and patient care opportunities for the future. PMID:25860324

  5. Juvenile Delinquency and Number of Children in a Family: Some Empirical and Theoretical Updates.

    ERIC Educational Resources Information Center

    Tygart, C. E.

    1991-01-01

    Responses to a questionnaire completed by 800 male and female high school students in southern California supported the hypothesis that increased family size contributes to delinquent behavior, especially for females. Parental influence in large families is often diluted. Children of large families are more influenced by peers. (DM)

  6. The family and schizophrenia.

    PubMed

    Reiss, D

    1976-02-01

    The author discusses the role of the family in the etiology of schizophrenia and suggests how this research might be integrated with our growing knowledge of the biology of schizophrenia. Abnormalities of family interaction-particularly communication deviances-are frequently associated with schizophrenia and may play a causal, rather than epiphenomenal, role in its pathogenesis. Communication processes in family life affect the child's development of attentional and perceptual capacities, which also have strong biologic roots. The author suggests that the study of normal and abnormal perceptual development might be a meeting ground for researchers in the areas of the biological and familial theories of schizophrenia. PMID:1082721

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

    ERIC Educational Resources Information Center

    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…

  8. Datura family: the 2009 update

    NASA Astrophysics Data System (ADS)

    Vokrouhlický, D.; Durech, J.; Micha?owski, T.; Krugly, Yu. N.; Gaftonyuk, N. M.; Kryszczy?ska, A.; Colas, F.; Lecacheux, J.; Molotov, I.; Slyusarev, I.; Poli?ska, M.; Nesvorný, D.; Beshore, E.

    2009-11-01

    Context: Research of asteroid families has been recently refreshed by the discovery of very young ones. These families are of great interest because they represent the product of their parent body fragmentation before orbital and physical evolutionary processes can change them. A cluster of seven objects around the largest body (1270) Datura is of particular interest because it has enough known members and resides in the inner part of the main asteroid belt, facilitating observations. Aims: We carried out photometric observations of the two largest members of the Datura family - asteroids (1270) Datura and (90265) 2003 CL5 - with the goal of inferring their physical parameters. We also used numerous astrometric observations of Datura-family members in the past few years to revisit the age of this cluster. Methods: We performed numerous photometric observations of (1270) Datura over several oppositions. We then used the lightcurve inversion method to determine the spin state and shape of this asteroid. In the case of (90265) 2003 CL5, for which only limited lightcurve data have been acquired so far, we used Fourier analysis to determine the synodic rotation period during the 2008 apparition. We also used backward numerical integration of the improved orbits of Datura family members to reduce uncertainty in its age. Results: We determined the rotation state of (1270) Datura, the largest member of its own family. Its major properties are a short rotation period of ~3.36 h and small obliquity, which, however, exhibits ~±15° excursions because of a forced Cassini state of the proper nodal frequency. Any possible initial non-principal rotation state has probably been damped and the asteroid rotates about the shortest axis of the inertia tensor. Its global shape, although convex in our representation, may reflect regions related to the excavation of the family members from the parent body surface. Interestingly, the second largest member of the Datura family - (90265) 2003 CL5 - appears to be very slow rotator with the rotation period ~24 h. The large amplitude of its rotation curve suggests that its shape is extremely elongated, possibly bi-lobed. Improved orbits of the family members allow us to re-determine the possible age of this family. We find an age that is slightly older than previously reported. Using a conservative approach, we obtain an age in the 450 to 600 kyr range. With strengthened, but plausible, conditions, we find that the current data may support an age of 530±20 kyr. Further astrometric and photometric observations of the Datura cluster members are needed to determine its age more accurately. Photometric data is only available in electronic form at the CDS via anonymous ftp to cdsarc.u-strasbg.fr (130.79.128.5) or via http://cdsweb.u-strasbg.fr/cgi-bin/qcat?J/A+A/507/495

  9. The potential impact of family history of metabolic syndrome and risk of type 2 diabetes mellitus: In a highly endogamous population

    PubMed Central

    Bener, Abdulbari; Darwish, Sarah; Al-Hamaq, Abdulla O. A.; Yousafzai, Mohammad T.; Nasralla, Eman A.

    2014-01-01

    Aim: This study aims to determine the potential impact of positive family history of Metabolic Syndrome (MetS) among two generations, on developing Type 2 Diabetes Mellitus (T2DM) and the potential relation of consanguineous marriage among patients with MetS to the risk of developing T2DM among a sample of Qataris. Design: A cross-sectional study. Setting: Primary healthcare (PHC) centers. Materials and Methods: The survey and measurement were conducted from April 2011 to December 2012 among Qatari nationals above 20 years of age. Of the 2,182 subjects, who were approached to participate in the study, 1,552 (71%) gave their consent. Face-to-face interviews were conducted using a structured questionnaire followed by anthropometric measurements and laboratory tests. Metabolic syndrome was defined using the National Cholesterol Education Program-Third Adult Treatment Panel (ATP III) as well as International Diabetes Federation (IDF). Results: Overall, the prevalence of MetS was 26.2% according to ATP III and 36.9% according to IDF (P < 0.0001). The mean age of MetS patients with T2DM was significantly higher than those without T2DM (Mean 48 ± 9.9 vs. 42.5 ± 9.2; P < 0.001). The proportion of females was higher among MetS patients with T2DM as compared to those without T2DM (61% vs. 51%; P = 0.053). In addition, there were significant differences between MetS patients with and without DM in terms of co-morbidities of hypertension, coronary heart disease, and high cholesterol. The proportion of MetS patients with positive family history for MetS was significantly higher in MetS patients with T2DM as compared to those without T2DM (46.7% vs. 33.8%; P = 0.009). The proportion of positive family history of MetS among fathers (35% vs. 21.9%; P = 0.005), mothers (30.5% vs. 18.8%; P = 0.008), maternal aunt (18.3% vs. 11.2%; P = 0.055), and maternal grand father (19.5% vs. 10%; P = 0.010) were significantly higher in MetS patients with T2DM as compared to the counterpart. The proportion of consanguineous marriages was almost two times higher among MetS patients with T2DM as compared to those without T2DM (80.9% vs. 41.9%; P < 0.001). The proportion of MetS patients with T2DM was lower than MetS patients without DM below 45 years, but after 45 years, the proportion of MetS patients with T2DM remained higher than their counterparts. Conclusion: Family history of MetS among parents, maternal aunt, maternal grandfather, and consanguineous marriages among patients of MetS are significantly associated with the development of T2DM in Qatar. These results support the necessity of earlier screening for T2DM among MetS patients with positive family history of MetS. PMID:24741517

  10. Assessment of Troubled Families.

    ERIC Educational Resources Information Center

    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)

  11. The Family Constellation Scale.

    ERIC Educational Resources Information Center

    Lemire, David

    The Family Constellation Scale (FC Scale) is an instrument that assesses perceived birth order in families. It can be used in counseling to help initiate conversations about various traits and assumptions that tend to characterize first-born, middle-born children, youngest-born, and only children. It provides both counselors and clients insights…

  12. Family-Friendly Art

    ERIC Educational Resources Information Center

    Williams, Patterson; Garcia, Maria

    2004-01-01

    In the late 1980s, the Denver Art Museum initiated efforts to make the museum a destination for families. From 1997 to 2001, with a generous grant from The Pew Charitable Trusts, these efforts came to fruition. From the moment they walk through the doors, families' needs are anticipated. For example, they can pick up a welcoming brochure, Free…

  13. Family History Resources.

    ERIC Educational Resources Information Center

    Bookmark, 1991

    1991-01-01

    The 12 articles in this issue focus on the theme of family history resources: (1) "Introduction: Family History Resources" (Joseph F. Shubert); (2) "Work, Credentials, and Expectations of a Professional Genealogist" (Coreen P. Hallenbeck and Lewis W. Hallenbeck); (3) "Computers and Genealogy" (Theresa C. Strasser); (4) "Finding Historical Records…

  14. Black Families. Interdisciplinary Perspectives.

    ERIC Educational Resources Information Center

    Cheatham, Harold E., Ed.; Stewart, James B., Ed.

    Since the early 1960s, the black family has been characterized as pathological. This six-part collection of 18 research studies presents alternative approaches to understanding the special characteristics of black families. Part I, "Theoretical and Methodological Perspectives," comprises a comparison of the pioneering work of W. E. B. Du Bois and…

  15. Marinating the Family.

    ERIC Educational Resources Information Center

    Hensel, Karen A.

    1982-01-01

    Describes the New York Aquarium's program specifically designed for family learning and teaching. The program's goal is to create an environment where child-parent roles are dropped and where the philosophy that no one of us is as smart as all of us prevails. Strategies for family involvement are outlined. (MH)

  16. Explaining Family Interactions.

    ERIC Educational Resources Information Center

    Fitzpatrick, Mary Anne, Ed.; Vangelisti, Anita L., Ed.

    A detailed review of current research and state-of-the-art ideas concerning both communication processes and family functioning is presented in this collection of articles. The volume is organized around three sections. Part 1, "The Development of Family Communication Patterns," contains: (1) "Communication in Infancy" (Marguerite Stevenson…

  17. Golden Matrix Families

    ERIC Educational Resources Information Center

    Fontaine, Anne; Hurley, Susan

    2011-01-01

    This student research project explores the properties of a family of matrices of zeros and ones that arises from the study of the diagonal lengths in a regular polygon. There is one family for each n greater than 2. A series of exercises guides the student to discover the eigenvalues and eigenvectors of the matrices, which leads in turn to…

  18. Family Support and Education

    ERIC Educational Resources Information Center

    Goldstein, Lou Ann

    2013-01-01

    Family involvement is essential to the developmental outcome of infants born into Neonatal Intensive Care Unit (NICU). In this article, evidence has been presented on the parent's perspective of having an infant in the NICU and the context of family. Key points to an educational assessment are also reviewed. Throughout, the parent's concerns and…

  19. [Inclusive Recreation and Families.

    ERIC Educational Resources Information Center

    Heyne, Linda A., Ed.; And Others

    1996-01-01

    This feature issue focuses on inclusive recreation for persons with developmental disabilities and their families. The articles provide information about the benefits of inclusive recreation for individuals and families, the challenges in attempting to create or access community recreation services that offer inclusive programs, and strategies…

  20. Familial Gestational Trophoblastic Disease

    Microsoft Academic Search

    M. Fallahian

    2003-01-01

    Familial molar pregnancies and gestational trophoblastic disease are exceedingly rare. In this case report, a family including four sisters and their cousin had molar pregnancies. Eldest sister had repeated molar pregnancies. Second sister had early abortion at her first pregnancy and partial molar pregnancy following blighted ovum by intrauterine insemination at her second pregnancy. Third sister had two molar pregnancies

  1. IGSF9 family proteins.

    PubMed

    Hansen, Maria; Walmod, Peter Schledermann

    2013-06-01

    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, whereas vertebrates contain two to four genes. In cnidarians, the gene appears to encode a secreted protein, but transmembrane isoforms of the protein have also evolved, and in many species, alternative splicing facilitates the expression of both transmembrane and secreted isoforms. In most species, 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 and mammalian IGSF9 proteins are contradictory. PMID:23417431

  2. Alcoholism and Family Interaction.

    ERIC Educational Resources Information Center

    Jacob, Theodore

    Historically, alcoholism has been defined as an individual problem, and as a result, family factors have received little attention. During the past decade, however, a new theoretical-methodological perspective has been introduced which draws upon general systems theory for rationale, family theory for substance, and behavioral psychology for…

  3. Family/Individual Health.

    ERIC Educational Resources Information Center

    Texas Tech Univ., Lubbock. Home Economics Curriculum Center.

    This document contains teacher's materials for a six-unit secondary education vocational home economics course on personal and family health. The units cover: (1) personal health and wellness (including the decisions and other factors that influence health, principles of personal health, and stress management); (2) family health (including coping…

  4. Ontogeny in the Family

    Microsoft Academic Search

    Mathias Kölliker

    2005-01-01

    When ontogeny takes place in a family, and parents provide essential resources for development, the parents become an environmental component to the development of a wide range of offspring traits. Because differences among parents may partly reflect genetic variation, this environmental component contains genes and may itself evolve. Also, when offspring play an active role in family interactions, offspring become

  5. Adlerian Family Therapy.

    ERIC Educational Resources Information Center

    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

  6. Democratization of the Family.

    ERIC Educational Resources Information Center

    Beck, Ulrich

    1997-01-01

    Discusses several issues related to a modern approach in the interpretation of civil freedom and its relationship to the notion of family. First, presents some definitions and distinctions regarding the sociology of political freedom, which it suggests should become the sociology of citizenship. Then, applies those ideas to families, particularly…

  7. The Nkosi Family.

    ERIC Educational Resources Information Center

    Lyster, Elda

    This book for beginning readers presents the story of the South African Nkosi family. The seven members of the family share their feelings, likes and dislikes, and hopes and dreams. Readers are encouraged to figure out what the characters like, want, feel, and dream and to share their own likes, desires, feelings, and dreams. The book is written…

  8. Child And Family Studies Department Of Child And Family Studies

    E-print Network

    Mather, Patrick T.

    Child And Family Studies Department Of Child And Family Studies Robert P. Moreno, Chair, 315 of Child and Family Studies (CFS) is involved in the scientific investigation of children and families of specialization: (a) Early Child Development, (b) Youth and Family Development, (c) Early Childhood Education (4

  9. Families First: Keys to Successful Family Functioning An Introduction

    E-print Network

    Liskiewicz, Maciej

    families promote the emotional, physical and social welfare of individual family members. Among the many unit. Unlike any other social group, families are able to provide the close emotional support needed, physical, and social development of individual family members Healthy families are able to cope

  10. Engaging Families in In-Home Family Intervention

    ERIC Educational Resources Information Center

    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

  11. Family Learning Forum

    NSDL National Science Digital Library

    How do families learn together when they come to a museum? It's a little-explored question, and one that staff members at the USS Constitution Museum in Boston were interested in exploring. In 2004, they started the Family Learning Project with support via a grant from the Institute of Museum and Library Services to explore this matter, along with looking at effective, low-cost exhibit techniques. The museum studied their own "Sailors Speak" exhibition, in order to answer questions that included: "What kinds of historical text could engage families most effectively?" A basic overview of their mission can be found in the "About" area, and then visitors will want to look over their findings in sections like "10 Steps to Encourage Family Learning" and "Developing Content to Engage Families".

  12. Family Involvement Questionnaire: A Multivariate Assessment of Family Participation in Early Childhood Education

    Microsoft Academic Search

    John Fantuzzo; Erin Tighe; Stephanie Childs

    2000-01-01

    The study developed and evaluated the Family Involvement Questionnaire (FIQ), a multidimensional scale of family involvement in early childhood education. The FIQ was guided by theory and coconstructed with parents and teachers in preschool, kindergarten, and 1st-grade programs in a large urban school district. Demographic and FIQ data were collected from 641 parents. Factor analyses revealed 3 involvement constructs: school-based

  13. Family planning in Italy.

    PubMed

    Spinelli, A; Grandolfo, M; Donati, S; Medda, E

    1993-06-01

    In the past 5 years, four knowledge, attitude and practice (KAP) surveys on family planning have been organized by the Unit of Population Survey Methodology of the Istituto Superiore di Sanita' (National Institute of Health). These surveys show that during the past 20 years, use of reliable contraceptives in Italy has increased, particularly in the North, encouraged by the more open attitude toward sexual behavior, following legalization of the provision of information on contraception and abortion upon request, and other social and cultural changes. In 1989 and 1991, 25% of women in Central and Southern Italy were using the pill or an IUD. However, the percentage of women not using contraceptives was still high (26% in 1989, and 19% in 1991) and withdrawal was the most widely used method (31% and 33%). The data show large regional differences. The main reasons for not using contraception, in the 1989 study, were fear of side-effects and ignorance, especially in the youngest and oldest women. Those least likely to use modern contraception were the young, the ill-educated and the nulliparous women. Lack of information seems to be the main problem in Italy. In fact, the 5044 women interviewed showed a medium level of knowledge of contraception, with only 63% who could identify correctly the fecund period in the menstrual cycle. However, their attitude toward the use of modern contraception was positive; 65% of the women interviewed said they would recommend the Pill or an IUD to a friend, and 10% of them would recommend condoms.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8237568

  14. Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis.

    PubMed

    Nasir, Muhammad; Rahman, Simeen Ber; Sieber, Christian M K; Mir, Asif; Latif, Amir; Ahmad, Nafees; Malik, Salman Akbar; Hameed, Abdul

    2014-01-01

    Lipoid proteinosis (LP) is one of the rare, recessive autosomal disorders clinically characterized by widespread deposition of hyaline-like material in the skin, mucosa and viscera. Classical features include beaded eyelid papules, laryngeal infiltration and hoarseness of voice caused by pathogenic mutations in the ECM1 gene located on 1q21.2. In present study ethnically different, three consanguineous Pakistani families with typical cutaneous features of LP were analysed to investigate the underlying molecular basis. PCR based linkage analysis using microsatellite markers localized the families to locus 1q21.2, harboring ECM1 gene. To identify the mutation in the candidate gene (ECM1), Sanger sequencing was carried out. All the families were found to carry c.742 G>T nonsense mutation in exon 7 of the ECM1 gene that resulted in a truncated ECM1 protein containing 247 amino acids instead of 540 (p.E248X). To further investigate the impact and importance of mutation in LP pathogenesis we applied different bioinformatics tools. In silico studies has predicted lack of functional domains and 65 % shorter ECM1 mutant protein. It is the first report of recurrence mutation from Pakistan as c.742G>T nonsense mutation was found in three ethnically different Pakistani families with LP. Study strengthens the conclusion that c.742G>T mutation is the pathological cause of LP. Furthermore, data also support the fact that exon 7 is one of the most common hot spots of pathological mutations in ECM1. The absence of functional domains and truncated sequence most likely contribute to the lack of ECM1 function and thereby influence several aspects of dermal homeostasis that leads to LP pathogenesis. PMID:24413997

  15. Economic conditions of military families.

    PubMed

    Hosek, James; Wadsworth, Shelley MacDermid

    2013-01-01

    For military children and their families, the economic news is mostly good. After a period of steady pay increases, James Hosek and Shelley MacDermid Wadsworth write, service members typically earn more than civilians with a comparable level of education. Moreover, they receive many other benefits that civilians often do not, including housing allowances, subsidized child care, tuition assistance, and top-of-the-line comprehensive health care. Of course, service members tend to work longer hours than civilians do, and they are exposed to hazards that civilians rarely, if ever, face. The extra pay they receive when they are deployed to combat zones helps their families cope financially but cannot alleviate the stress. Though service members are relatively well paid, the military lifestyle takes a toll on the earnings of their spouses. Chiefly because the military requires service members to move frequently, spouses' careers are regularly interrupted, and employers are hesitant to offer them jobs that require a large investment in training or a long learning curve. More military spouses than comparable civilian spouses are either unemployed or work fewer hours than they would like, and military spouses overall tend to earn less than their civilian counterparts. Despite the military's relatively high pay, some service members and their families--particularly among the junior enlisted ranks--report financial distress, and a handful even qualify for food stamps. Moreover, precisely because military pay tends to be higher than civilian pay, families may see a drop in income when a service member leaves the armed forces. Finally, the pay increases of recent years have slowed, and force cutbacks are coming; both of these factors will alter the financial picture for service members, possibly for the worse. PMID:25518691

  16. Family structure, Afro-Euro inequality and economic justice

    Microsoft Academic Search

    Steven Shulman

    2001-01-01

    The dramatic increase in the fraction of all Afro-American families headed by single women accounts for approximately two-fifths of the Afro-Euro family income gap. Examines the empirical objections to the conclusion that family structure is a major factor behind ethnic inequality and found to be largely without merit. Also critically examines the more normative and more important objection that the

  17. Horizontal versus Familial Transmission of Helicobacter pylori

    Microsoft Academic Search

    Sandra Schwarz; Giovanna Morelli; Barica Kusecek; Andrea Manica; Francois Balloux; Robert J. Owen; David Y. Graham; Schalk van der Merwe; Mark Achtman; Sebastian Suerbaum

    2008-01-01

    Transmission of Helicobacter pylori is thought to occur mainly during childhood, and predominantly within families. However, due to the difficulty of obtaining H. pylori isolates from large population samples and to the extensive genetic diversity between isolates, the transmission and spread of H. pylori remain poorly understood. We studied the genetic relationships of H. pylori isolated from 52 individuals of

  18. Gene Family Evolution across 12 Drosophila Genomes

    Microsoft Academic Search

    Matthew W Hahn; Mira V Han; Sang-Gook Han

    2007-01-01

    Comparison of whole genomes has revealed large and frequent changes in the size of gene families. These changes occur because of high rates of both gene gain (via duplication) and loss (via deletion or pseudogenization), as well as the evolution of entirely new genes. Here we use the genomes of 12 fully sequenced Drosophila species to study the gain and

  19. Family and Consumer Sciences and STEM Integration

    ERIC Educational Resources Information Center

    Carter, Vinson; Beachner, Maggie; Daugherty, Michael K.

    2015-01-01

    Family and consumer sciences (FCS) education has traditionally attracted a large percentage of female students (Vincenti, 1997; Werhan, 2013). Werhan (2013) reported that slightly less than 3.5 million students are engaged in FCS courses, and at the high school level, approximately 65% of them are female. This skewed representation of female…

  20. Sibling Family Practices: Guidelines for Healthy Boundaries

    ERIC Educational Resources Information Center

    Johnson, Toni Cavanagh; Huang, Bevan Emma; Simpson, Pippa M.

    2009-01-01

    A questionnaire was given to 500 mental health and child welfare professionals asking for maximum acceptable ages for siblings to engage jointly in certain family practices related to hygiene, affection, and privacy. A large proportion of respondents felt it was never acceptable for siblings to take showers together (40%), kiss on the mouth (37%),…

  1. Canadian Families (Les Familles Canadiennes).

    ERIC Educational Resources Information Center

    Vanier Inst. of the Family, Ottawa (Ontario).

    Structural changes that have taken place in Canadian families in recent decades are described in this booklet. Topical sections are as follows: (1) What Counts in Canadian Families (importance of (importance of family); (2) The Family--Variations on a Theme origins, family structure, seniors aged 60 and over, how lives are spent, religion); (3)…

  2. Family Day Care Training Curriculum.

    ERIC Educational Resources Information Center

    Nakatsu, Gail

    California's Family Day Care Training Program was designed to recruit and train in 7 weeks, Lao, Vietnamese, and Chinese refugees to establish their own state-licensed, family day care homes. Topics in the program's curriculum include an introduction to family day care, state licenses for family day care, state licensing requirements for family

  3. Does Addiction Run in Families?

    MedlinePLUS

    Listen to this page Does Addiction Run in Families? Addiction can run in families. If people in your family have addictions, you are more likely to become ... En español "Heart disease runs in some families. Addiction runs in ours." Matt's family has a history ...

  4. Lights, Camera--Families--Action!

    ERIC Educational Resources Information Center

    Press, Doreen

    2000-01-01

    Discusses the family night concert as a way to involve family members in music education, where they can participate in the orchestra or as part of a family act. Describes how to create the family concert. Includes a sample invitation and a program to a family night performance. (CMK)

  5. Family Oriented Geographic Field Experience.

    ERIC Educational Resources Information Center

    Williams, Karen Ann Lalk

    This paper describes a program of geographic education through field experience trips for family groups. Developed at Delta College in Michigan, the approach is unique because it emphasizes learning experiences for families rather than for individual students. The family is interpreted to include nuclear families, single-parent families with…

  6. Trends Impacting Public Policy Support for Caregiving Families

    ERIC Educational Resources Information Center

    Singer, George H. S.; Biegel, David E.; Ethridge, Brandy L.

    2010-01-01

    Public policy aimed at supporting the caregiving capacity of families has risen to prominence on the public agenda in the United States. Initiatives at the state and federal levels have created some initial services. Three trends that are pushing the issue of family caregiving to the surface are discussed, including large-scale social,…

  7. Building Family Capacity for Native Hawaiian Women with Breast Cancer

    ERIC Educational Resources Information Center

    Mokuau, Noreen; Braun, Kathryn L.; Daniggelis, Ephrosine

    2012-01-01

    Native Hawaiian women have the highest breast cancer incidence and mortality rates when compared with other large ethnic groups in Hawai'i. Like other women, they rely on the support of their families as co-survivors. This project explored the feasibility and effects of a culturally tailored educational intervention designed to build family

  8. Studies in Family Planning, Volume 3 Number 2.

    ERIC Educational Resources Information Center

    Population Council, New York, NY.

    A new design for government family planning programs is proposed in "Family Planning Programs: An Economic Approach," the principal article in this monthly publication of The Population Council. The design is intended primarily for low-income countries that seek large and rapid reductions in fertility. Thirteen elements of the proposed system of…

  9. Attenuated familial adenomatous polyposis (AFAP): a review of the literature

    Microsoft Academic Search

    Anne Lyster Knudsen; Marie Luise Bisgaard; Steffen Bülow

    2003-01-01

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

  10. DYNAMICAL EVOLUTION OF THE ADEONA AND GEFION ASTEROID FAMILIES

    E-print Network

    Nesvorny, David

    DYNAMICAL EVOLUTION OF THE ADEONA AND GEFION ASTEROID FAMILIES V. CARRUBA and J. A. BURNS Cornell, U.S.A. Abstract. In this work we investigate the degree to which large asteroid family fragments could be scattered by close encounters with the four most massive asteroids in the Main Belt (1 Ceres, 2

  11. Family, Religion, and Work among Arab American Women

    ERIC Educational Resources Information Center

    Ghazal Read, Jen'nan

    2004-01-01

    Using data from a national survey of 501 Arab American women, this study examines the extent to which family behavior mediates the influence of religion on women's labor force activity. Prior research on families has largely overlooked the role of religion in influencing women's labor force decisions, particularly at different stages of the life…

  12. Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.

    PubMed

    Takeichi, T; Nanda, A; Aristodemou, S; McMillan, J R; Lee, J; Akiyama, M; Al-Ajmi, H; Simpson, M A; McGrath, J A

    2015-05-01

    Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous disorder for which subtyping through molecular analysis can help determine the eventual phenotype and prognosis. We used whole-exome sequencing to identify a new homozygous splice-site mutation in ST14 (IVS5+1G>A), encoding matriptase, in a 4-year-old girl with ARCI from a consanguineous Kuwaiti family. Clinically, she also had hypotrichosis, which supported a diagnosis of ARCI type 11. Only four previous examples of pathogenic mutations in ST14 have been reported, and our findings expand the genotype-phenotype correlation for this subtype of ARCI. Our patient was the second child born to these parents; the first (deceased) and third children had congenital brain and eye abnormalities, of uncertain aetiology and with no precise diagnosis. Further analysis of our patient's exome dataset revealed heterozygosity for a splice-site mutation in POMT1 (IVS4+1G>T), encoding the protein O-mannosyltransferase, a gene implicated in Walker-Warburg syndrome. DNA sequencing in the third child showed homozygosity for this mutation in POMT1. The first-cousin parents were both heterozygous for the splice-site mutations in ST14 and POMT1. In this family, whole-exome sequencing provided accurate subtyping of a form of ARCI in one child and provide an explanation for an undiagnosed developmental disorder in two other children, findings that improve the prospects for diagnostic accuracy and genetic counselling, and demonstrate the impact of next-generation sequencing technologies on clinical genetics. PMID:25308318

  13. Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.

    PubMed

    Duncan, Jacque L; Biswas, Pooja; Kozak, Igor; Navani, Mili; Syed, Reema; Soudry, Shiri; Menghini, Moreno; Caruso, Rafael C; Jeffrey, Brett G; Heckenlively, John R; Reddy, G Bhanuprakash; Lee, Pauline; Roorda, Austin; Ayyagari, Radha

    2014-07-01

    Abstract Background: Characterization of retinal degeneration (RD) using high-resolution retinal imaging and exome sequencing may identify phenotypic features that correspond with specific genetic defects. Materials and Methods: Six members from a non-consanguineous Indian family (three affected siblings, their asymptomatic parents and an asymptomatic child) were characterized clinically, using visual acuity, perimetry, full-field electroretinography (ERG), optical coherence tomography and cone structure as outcome measures. Cone photoreceptors were imaged in the proband using adaptive optics scanning laser ophthalmoscopy. The exome was captured using Nimblegen SeqCap EZ V3.0 probes and sequenced using lllumina HiSeq. Reads were mapped to reference hg19. Confirmation of variants and segregation analysis was performed using dideoxy sequencing. Results: Analysis of exome variants using exomeSuite identified five homozygous variants in four genes known to be associated with RD. Further analysis revealed a homozygous nonsense mutation, c.1105 C?>?T, p.Arg335Ter, in the FAM161A gene segregating with RD. Three additional variants were found to occur at high frequency. Affected members showed a range of disease severity beginning at different ages, but all developed severe visual field and outer retinal loss. Conclusions: Exome analysis revealed a nonsense homozygous mutation in FAM161A segregating with RD with severe vision loss and a range of disease onset and progression. Loss of outer retinal structures demonstrated with high-resolution retinal imaging suggests FAM161A is important for normal photoreceptor structure and survival. Exome sequencing may identify causative genetic variants in autosomal recessive RD families when other genetic test strategies fail to identify a mutation. PMID:25007332

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

    ERIC Educational Resources Information Center

    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…

  15. Creating a Family Health History

    MedlinePLUS

    ... Why Create a Family Health History? In This Topic Why Create a Family Health History? Family History ... for More Information National Institute on Aging Related Topics Talking With Your Doctor The information in this ...

  16. Welfare Policies and Black Families.

    ERIC Educational Resources Information Center

    Trader, Harriet Peat

    1979-01-01

    The family is an important resource for minority persons, and many minority families depend on public welfare for their survival. This article offers a compact analysis of how welfare policies often work to the disadvantage of poor Black families. (Author)

  17. ABC Foundation Adler Family Foundation

    E-print Network

    Napier, Terrence

    of Allentown Baer-Kaelin Foundation Dexter F. and Dorothy H. Baker Foundation The David M. and Barbara Baldwin. Keller Family Foundation Robert P. Kelly Family Foundation Letha J. Kemper Family Trust Philip I. Kent

  18. Families and Fragile X Syndrome

    MedlinePLUS

    ... Publications Scientific Research Planning Scientific Resources Research Families & Fragile X Syndrome: Index Skip sharing on social media links Share ... Health and Human Development (NICHD) family album about Fragile X syndrome. As a health research agency, the NICHD family ...

  19. Family Health and Medical Record.

    E-print Network

    Shirer, Mary Ann

    1982-01-01

    ,,, "' Family member Date Type of injury Doctor r {\\ ............. Family member Cause of sensitivity/allergic reaction Office/clinic/ hospital ,--.... Instructions/ medication 13 I 14 15 Medical and oEJntal Checkups I Family member Date Type...

  20. Strengthening Our Military Families

    MedlinePLUS

    ... PSD-9. With the involvement of the National Economic Council, Office of the First Lady, and the ... goal of the program is to mitigate the economic hardship of deployed members and their families. The ...

  1. Media Time Family Pledge

    MedlinePLUS

    ... Listen Español Text Size Email Print Share Media Time Family Pledge Article Body At the beginning and end ... them. Kids learn best with small lessons over time as opposed to one big lecture or sit- ...

  2. Helping Friends and Family

    MedlinePLUS

    ... counselor specializing in treating families dealing with a chronic illness. Notify school social workers and teachers about your ... professional who has experience working with people facing chronic disease can help one or both of you deal ...

  3. Veterans and their families 

    E-print Network

    McKie, Linda; Morrison, Zoe; Thomson, Fionagh; Alstead, Allan

    This briefing paper reports on the outcomes of a range of activities undertaken with a number of veterans, veterans’ families, and third and public sector organisations located in Scotland. Our aim was to explore the resettlement experiences...

  4. Families with Kids

    MedlinePLUS

    ... Traumatic Brain Injury Life Stress Health & Wellness Anger Stigma Suicide Prevention Families with Kids Alcohol and Drugs ... Resilience Satisfaction with Life Sexual Truama Sleep Spirituality Stigma Stress Work Adjustment Worry Videos Post-Traumatic Stress ...

  5. My Fact Family

    NSDL National Science Digital Library

    Elizabeth Gehron

    2012-08-15

    Students will use cut out people shapes and number cards to create two addition problems and two subtraction problems using the same three numbers of a fact family to explore the commutative property.

  6. Importance of Family Routines

    MedlinePLUS

    ... You might go shopping as a family, visit museums and zoos, do chores that everyone participates in, go on hikes or bike rides, or attend religious services. On weekends children in the middle years can usually be allowed ...

  7. Familial Mediterranean fever

    MedlinePLUS

    ... Recurrent polyserositis; Benign paroxysmal peritonitis; Periodic disease; Periodic fever; FMF ... Familial Mediterranean fever is most often caused by a mutation in the MEFV gene. This gene creates proteins involved in inflammation. ...

  8. Family Adjustment to Aphasia

    MedlinePLUS

    ... this time. Seek additional counseling services as necessary. Communication Skills Family members also can help the person ... aphasia develop new skills to compensate for the communication problems. Some suggestion include: Continue to talk to ...

  9. Contextual study of singing in the Fisher family 

    E-print Network

    Smith, Stephanie Deborah Ladd

    1988-01-01

    This ethnographic study of a Scottish singing family, the Fishers of Glasgow, is based largely on fieldwork conducted over a period of three years. The Fishers were chosen because of their early involvement in, and their ...

  10. Optical excitations in electroluminescent polymers: poly(para-phenylenevinylene) family

    E-print Network

    Harigaya, Kikuo

    Optical excitations in electroluminescent polymers: poly(para-phenylenevinylene) family (Running with large spatial extent is investigated for optical absorption spectra of the electroluminescent conjugated electroluminescent properties of the polymer poly(para-phenyl- enevinylene) (PPV) 1] has attracted physical

  11. [Orem's family evaluation].

    PubMed

    Dumas, L; de Montigny, F

    1993-11-01

    Nurses are beginning to realize that clients' deficits influence family members and, conversely, that family members play an important role in the development and resolution of these deficits. The authors attempted to find published literature describing a family nursing evaluation based upon Orem's conceptual framework. Previous nursing research has described how Orem's model is applied to nursing interventions with individual clients, but none has addressed the application of nursing interventions to multiperson units within a family situation. The authors developed their own concept from their personal and family experiences and a theoretical background of Orem's model. They chose to integrate systemic and communication theory, and developmental and functional approaches with Orem's concept of nursing care of multiperson units. According to the authors, this approach is consistent with Orem's model and represents a holistic vision of the family. Orem emphasizes that the nurse intervening with multiperson units should understand the structure and function of groups and be able to identify the actual ongoing process. Although Orem's theoretical framework is not based upon a systemic approach, the authors believe that it is possible to blend the systemic theory concepts with Orem's model. This article reviews the three basic concepts found within Orem's conceptual framework: self-care; self-care deficit, and nursing systems. The authors also outline their theoretical assumptions for the use of this approach with family nursing interventions, based upon six functional dimensions of the family as described by Epstein et al. and Guttman. In addition, the article provides a concrete example of how nursing evaluation can be structured within this scheme of reference. PMID:8261376

  12. [Systemic family therapy].

    PubMed

    Desmarouet, Jean; Goldziuk, Michel

    2014-01-01

    Systemic family therapy traces its roots to several disciplines and invites us to change our focus on the world. In the framework of therapy, it is based on a particular approach which aims not only to help the patient who is suffering, but also to support the other members of the family in order to find a new balance and a more flexible way of functioning. PMID:25095585

  13. COLLISIONALLY BORN FAMILY ABOUT 87 SYLVIA

    SciTech Connect

    Vokrouhlicky, David [Institute of Astronomy, Charles University, V Holesovickach 2, CZ-18000 Prague 8 (Czech Republic); Nesvorny, David; Bottke, William F. [Southwest Research Institute, 1050 Walnut Street, Suite 300, Boulder, CO 80302 (United States); Morbidelli, Alessandro, E-mail: vokrouhl@cesnet.c, E-mail: davidn@boulder.swri.ed, E-mail: bottke@boulder.swri.ed, E-mail: morby@obs-nice.f [Observatoire de la Cote d'Azur, Dept. Cassiopee, 06304 Nice Cedex 4 (France)

    2010-06-15

    There are currently more than 1000 multi-opposition objects known in the Cybele population, adjacent and exterior to the asteroid main belt, allowing a more detailed analysis than was previously possible. Searching for collisionally born clusters in this population, we find only one statistically robust case: a family of objects about (87) Sylvia. We use a numerical model to simulate the Sylvia family long-term evolution due to gravitational attraction from planets and thermal (Yarkovsky) effects and to explain its perturbed structure in the orbital element space. This allows us to conclude that the Sylvia family must be at least several hundreds of million years old, in agreement with evolutionary timescales of Sylvia's satellite system. We find it interesting that other large Cybele-zone asteroids with known satellites-(107) Camilla and (121) Hermione-do not have detectable families of collisional fragments about them (this is because we assume that binaries with large primary and small secondary components are necessarily impact generated). Our numerical simulations of synthetic clusters about these asteroids show they would suffer a substantial dynamical depletion by a combined effect of diffusion in numerous weak mean-motion resonances and Yarkovsky forces provided their age is close to {approx}4 billion years. However, we also believe that a complete effacement of these two families requires an additional component, very likely due to resonance sweeping or other perturbing effects associated with the late Jupiter's inward migration. We thus propose that both Camilla and Hermione originally had their collisional families, as in the Sylvia case, but they lost them in an evolution that lasted a billion years. Their satellites are the only witnesses of these effaced families.

  14. Poaceae (Grass family) Rhizomatous perennial.

    E-print Network

    Poaceae (Grass family) Life cycle Rhizomatous perennial. Leaves Bright green leaves are hairless. Patch of Johnsongrass. Back to identifying Christmas tree weeds. #12;Poaceae (Grass family) Johnsongrass

  15. Mandolin Family Instruments

    NASA Astrophysics Data System (ADS)

    Cohen, David J.; Rossing, Thomas D.

    The mandolin family of instruments consists of plucked chordophones, each having eight strings in four double courses. With the exception of the mandobass, the courses are tuned in intervals of fifths, as are the strings in violin family instruments. The soprano member of the family is the mandolin, tuned G3-D4-A4-E5. The alto member of the family is the mandola, tuned C3-G3-D4-A4. The mandola is usually referred to simply as the mandola in the USA, but is called the tenor mandola in Europe. The tenor member of the family is the octave mandolin, tuned G2-D3-A3-E4. It is referred to as the octave mandolin in the USA, and as the octave mandola in Europe. The baritone member of the family is the mandocello, or mandoloncello, tuned C2-G2-D3-A3. A variant of the mandocello not common in the USA is the five-course liuto moderno, or simply liuto, designed for solo repertoire. Its courses are tuned C2-G2-D3-A3-E4. A mandobass was also made by more than one manufacturer during the early twentieth century, though none are manufactured today. They were fretted instruments with single string courses tuned E1-A1-D2-G2. There are currently a few luthiers making piccolo mandolins, tuned C4-G4-D5-A5.

  16. Sensemaking in a High-Risk Lifestyle: The Relationship Between Work and Family for Public Safety Families 

    E-print Network

    Bochantin, Jaime Elizabeth

    2011-10-21

    Past research concerning work and family has largely been from traditional, white-collar settings and has only taken into consideration the perceptions of the employees' experiences with regard to the relationship between ...

  17. Spatiotemporal Model of Family Engagement: A Qualitative Study of Family-Driven Perspectives on Family Engagement

    Microsoft Academic Search

    Claudette V Fette; Cynthia R Glimpse; Staci Lee Rodarmel; Aurelia Carter; Patti Derr; Helene Fallon; Kim Miller

    2009-01-01

    The Family-School-Community Partnerships Practice Group of the National Community of Practice on Collaborative School Behavioral Health conducted a survey of 30 families across the United States in an effort to develop a family-driven definition of family engagement. Literature on family engagement is reviewed, qualitative methods using a grounded theory approach are described and a model of family engagement is presented.

  18. Spontaneous Family Symmetry Breaking And Fermion Mixing

    E-print Network

    Zhijian Tao

    1994-12-03

    We propose a theory to describe fermion mixing. The theory respects the maximal abelian family symmetries which are spontaneously broken down at a large scale. We find that quark mixing can be well described in this theory. Some concrete models are constructed. The crucial point for model building is to introduce some new particles which are SU(2) gauge singlets and carry -1/3 electric charge. The approximate family symmetries in our low energy effective theory are naturally achieved. Some interesting phenomena in the effective theory, especially with two Higgs-doublets, are discussed.

  19. Family Functioning and Low Vision: A Systematic Review

    PubMed Central

    Bambara, Jennifer K.; Wadley, Virginia; Owsley, Cynthia; Martin, Roy C.; Porter, Chebon; Dreer, Laura E.

    2009-01-01

    This review highlights the literature on the function and adjustment process of family members of persons with adult-onset vision loss. The majority of the literature has focused on the unique role that the family plays in providing both instrumental and emotional support to adults with low vision. In contrast, the impact of low vision on the psychosocial adjustment of the family has been largely understudied. The review concludes with a discussion of the implications for clinical practice, along with directions for future research on the family within the context of low vision rehabilitation. PMID:20046836

  20. Fostering Families' and Children's Rights to Family Connections

    ERIC Educational Resources Information Center

    Landsman, Miriam J.; Boel-Studt, Shamra

    2011-01-01

    Recent federal legislation strengthens children's and families' rights to family-centered practice by increasing the responsibility of child welfare agencies to identify and engage extended family members in providing care and support to children placed out of the home. Preliminary results from an experimental study of a federally funded family

  1. The centrality of values in families and family therapy

    Microsoft Academic Search

    James P. Trotzer

    1981-01-01

    Values are discussed in terms of development, nature, and implications for family therapy. Clinical examples are used to demonstrate concepts and a model is presented which depicts how the various leverages utilized in family therapy relate to family values. Individual development, cultural heritage (legacy), the nuclear family system, and the contemporary context are described as factors which interact to form

  2. Selfobject functions of the family: Implications for family therapy

    Microsoft Academic Search

    Michael T. Ungar; Judith E. Levene

    1994-01-01

    The application of Self-Psychology theory to family functioning adds to our models of understanding and intervention in family therapy. This article develops a theory of the family as a supraordinate selfobject and explores diverse clinical applications of the theory. The family as a selfobject matrix enhances the self development of the child by the provision of continuity through the maintenance

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

    ERIC Educational Resources Information Center

    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)

  4. Child And Family Studies Department Of Child And Family Studies

    E-print Network

    McConnell, Terry

    Child And Family Studies Department Of Child And Family Studies Ambika Krishnakumar, Chair, 315 Irene Kehres, Director of Undergraduate Studies, 315-443-9634 The Department of Child and Family Studies healthy family and child development. Students are involved in learning both in class and field

  5. Child And Family Studies Department Of Child And Family Studies

    E-print Network

    Raina, Ramesh

    Child And Family Studies Department Of Child And Family Studies Robert P. Moreno, Chair, 315-443-1715 The Department of Child and Family Studies (CFS) is involved in the scientific investigation of children of four tracks of specialization: (a) Early Child Development, (b) Youth and Family Development, (c) Early

  6. Child And Family Studies Department Of Child And Family Studies

    E-print Network

    Raina, Ramesh

    Child And Family Studies Department Of Child And Family Studies Robert P. Moreno, Chair, 315 UNDERGRADUATE Robert P. Moreno, Undergraduate Program Director, 315-443-1715 The Department of Child and Family.S. degree program pursue interests in one of four tracks of specialization: (a) Early Child Development, (b

  7. Child And Family Studies Department Of Child And Family Studies

    E-print Network

    Raina, Ramesh

    Child And Family Studies Department Of Child And Family Studies Robert Moreno, Chair, 315 Carter, Undergraduate Program Director, 315-443-1715 The Department of Child and Family Studies (CFS family and child development. Students are involved in learning both in class and field experiences so

  8. We Are Family: Using Diverse Family Structure Literature with Children

    ERIC Educational Resources Information Center

    Gilmore, Deanna Peterschick; Bell, Kari

    2006-01-01

    The structure of the American family has changed over the years. Although the traditional father, mother, child structure still dominates, other family patterns are emerging. In this article the authors present: (1) current statistics relating to diverse family structures; (2) reasons for using diverse family structure literature with children;…

  9. Family Systems Consultation: Opportunities for Teaching in Family Medicine

    Microsoft Academic Search

    Susan H. McDaniel; Thomas Campbell; Lyman C. Wynne; Timothy Weber

    1988-01-01

    Family-systems consultation offers opportunities to teach residents basic concepts and relevant skills for working with families in family medicine. The application of systems theory to the consultation process helps clarify the role of the consultant-teacher in relation to the patient or family and the consultee-practitioner. Residents are able to gain experience interviewing and assessing families from their own practices with

  10. Family Complexity among Children in the United States

    PubMed Central

    MANNING, WENDY D.; BROWN, SUSAN L.; STYKES, J. BART

    2014-01-01

    Researchers largely have relied on a measure of family structure to describe children’s living arrangements, but this approach captures only the child’s relationship to the parent(s), ignoring the presence and composition of siblings. We develop a measure of family complexity that merges family structure and sibling composition to distinguish between simple two-biological-parent families, families with complex-sibling (half or stepsiblings) arrangements, and complex-parent (stepparent, single-parent) families. Using the Survey of Income and Program Participation (SIPP), we provide a descriptive profile of changes in children’s living arrangements over a 13-year span (1996–2009). SIPP sample sizes are sufficiently large to permit an evaluation of changes in the distribution of children in various (married, cohabiting, and single-parent) simple and complex families according to race/ethnicity and parental education. The article concludes by showing that we have reached a plateau in family complexity and that complexity is concentrated among the most disadvantaged families. PMID:25332509

  11. No Pain, No Gain? A Resource-Based Model of Work-to-Family Enrichment and Conflict

    ERIC Educational Resources Information Center

    Chen, Zheng; Powell, Gary N.

    2012-01-01

    Work-family scholars tend to work in two largely disconnected research streams, focusing on either work-family enrichment--the positive side of the work-family interface--or work-family conflict--the negative side of this interface. The purpose of this study is to suggest a reconciliation of the two research streams by proposing and testing a…

  12. Attitudes toward family planning.

    PubMed

    Gille, H

    1984-06-01

    Many of the 135 countries participating in the 1974 UN World Population Conference were far from accepting the basic human right to decide freely and responsibly the number and spacing of their children and to have the information, education, and means to do so. Considerable progress has been made since then, and the number of developing countries that provide direct government support for family planning has increased to over 60%. Many have liberalized laws and regulations which restricted access to modern contraceptive methods, and a growing number provide family planning services within their health care programs. A few have recognized the practice of family planning as a constitutional right. In late 1983 at the Second African Population Conference, recognition of family as a human right was strongly contested by several governments, particularly those of West Africa. in developed countries most of the women at risk of unwanted pregnancy are using contraceptives. Of the major developing regions the highest use level is in Latin America, wherein most countries 1/3 to 1/2 of married women are users. Levels in Asian countries range from up to 10% in Afghanistan, Nepal, and Pakistan to up to 40% in the southeastern countries. China, a special case, now probably exceeds an overall use level of 2/3 of married women. Contraceptive use is lowest in Africa. There is room for improvement even among many of the successful family planning programs, as access to contraceptives usually is not sufficient to overcome limiting factors. To ensure the individual's free choice and strengthen the acceptability and practice of family planning, all available methods should be provided in service programs and inluded in information and education activities. Family planning programs should engage local community groups, including voluntary organizations, in all aspects of planning, management, and allocation of resources. At the government level a clear political commitment to family planning and population policies is essential as is administrative support. All government agencies concerned with socioeconomic benefit to the family and the community need to be involved in the coordinated planning and implementation. PMID:12339637

  13. Ten adaptive strategies for family and work balance: advice from successful families.

    PubMed

    Haddock, S A; Zimmerman, T S; Ziemba, S J; Current, L R

    2001-10-01

    Despite negative media images and social dynamics insensitive to the lives of many dual-career couples, research shows that these families are largely healthy and thriving. In this study, we investigated the adaptive strategies of middle-class, dual-earner couples (N = 47) with children that are successfully managing family and work. Guided by grounded-theory methodology, analysis of interview data revealed that these successful couples structured their lives around 10 major strategies: Valuing family, striving for partnership, deriving meaning from work, maintaining work boundaries, focusing and producing at work, taking pride in dual earning, prioritizing family fun, living simply, making decisions proactively, and valuing time. Each adaptive strategy is defined and illustrated through the participants' own words. Clinical applications for therapists working with dual-earner couples are offered. PMID:11594013

  14. Effect of Family Structure and Behavioral and Eyesight Problems on Caries Severity in Pupils by Using an Ordinal Logistic Model

    PubMed Central

    JAHANI, Yunes; ESHRAGHIAN, Mohammad Reza; Rahimi FOROUSHANI, Abbas; NOURIJELYANI, Keramat; MOHAMMAD, Kazem; SHAHRAVAN, Arash; ALAM, Mahin

    2013-01-01

    Background: Dental caries is one of the most preventable yet prevalent chronic diseases worldwide. Our objective was to evaluate the effect of family structure and behavioral and eyesight problems as they relate to caries severity in schoolchildren. Methods: This research was carried out on 845 primary schoolchildren aged 9 yr in Kerman, Iran, in 2012. Ten variables, including health records, family structure information and a dmft/DMFT index, were collected. Children were categorized into three groups based on the WHO caries severity classification. Low caries level was defined as dmft/DMFT<2.6, moderate as dmft/DMFT of 2.7–4.4 and high as dmft/DMFT>4.4. The Cochran–Armitage test and ordinal logistic regression were employed for data analysis. Results: Almost half of pupils had moderate or high caries severity. The odds of being in a higher caries severity category in pupils with behavioral problems (OR=2.37, 95% CI: 1.29–4.38) and girls (OR=1.6, 95% CI: 1.22–2.06) were higher than in other categories. In addition, pupils with eyesight problems (OR=0.58, 95% CI: 0.37–0.90) and overweight pupils (OR=0.46, 95% CI: 0.31–0.71) had lower caries severity than others. The effects of parents’ education, birth rank, living with parents and consanguineous relationship between parents were not significant on caries severity (P>0.05). Conclusions: Female pupils with behavioral problems were at a higher risk of caries severity than other pupils. These pupils need to be educated and coached on proper dental care. In addition, overweight pupils and those with eyesight problems had less caries severity than others. Family structure in this study did not have an effect on the severity of dental caries.

  15. A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome.

    PubMed

    Doubaj, Yassamine; Pingault, Véronique; Elalaoui, Siham C; Ratbi, Ilham; Azouz, Mohamed; Zerhouni, Hicham; Ettayebi, Fouad; Sefiani, Abdelaziz

    2015-02-01

    Waardenburg syndrome (WS) is a neurocristopathy disorder combining sensorineural deafness and pigmentary abnormalities. The presence of additional signs defines the 4 subtypes. WS type IV, also called Shah-Waardenburg syndrome (SWS), is characterized by the association with congenital aganglionic megacolon (Hirschsprung disease). To date, 3 causative genes have been related to this congenital disorder. Mutations in the EDNRB and EDN3 genes are responsible for the autosomal recessive form of SWS, whereas SOX10 mutations are inherited in an autosomal dominant manner. We report here the case of a 3-month-old Morrocan girl with WS type IV, born to consanguineous parents. The patient had 3 cousins who died in infancy with the same symptoms. Molecular analysis by Sanger sequencing revealed the presence of a novel homozygous missense mutation c.1133A>G (p.Asn378Ser) in the EDNRB gene. The proband's parents as well as the parents of the deceased cousins are heterozygous carriers of this likely pathogenic mutation. This molecular diagnosis allows us to provide genetic counseling to the family and eventually propose prenatal diagnosis to prevent recurrence of the disease in subsequent pregnancies. PMID:25852447

  16. Assessment of fertility and infertility in boron-exposed Turkish subpopulations: 3. Evaluation of fertility among sibs and in "borate families".

    PubMed

    Sayli, B S

    2001-09-01

    As a part of a work to reveal the health effects of boron and its compounds, fertility and infertility states of sibs of probands, contacted and interviewed in the field, and of their spouses were given. The purposes were to prevent duplications seemingly inevitable in a relatively small community with prevailing consanguinity while analyzing marriages over respective generations and to reveal if there occurred an aggregation of infertile couples. Any family without offspring after about the second year of marriage was considered primary infertile as adopted throughout the study and such families were ascertained through the individual pedigree charts set up according to the instructions of the proband, he (she) himself (herself) being excluded. The rates of childless families of this type were 0.0-3.4% among male and 0.9-3.8% among female sibs of the participant, and 2.3-10.0% among male and 0.0-5.6% among female sibs of his (her) spouse with averages of 2.3% of 1589, 2.6% of 1589, 4.0% of 1314, and 3.3% of 1436 instances, respectively. The differences were insignificant and the rates were not different from those concerning probands themselves and that of a comparable segment of the Turkish population. "Borate families/kindreds" with two or more members engaged in the borate industry were also assessed in order to detect if there was a significant clustering of infertiles within the kindred. Although it was difficult to compare with a matched group, few couples were examples of familial concentration of infertility. These results provided further support that boron exposure does not affect human reproduction primarily and most probably secondarily. PMID:11575682

  17. The Economy, Families and Schools

    ERIC Educational Resources Information Center

    Williamson, Ronald

    2010-01-01

    The recession has impacted American families and the schools their children attend like nothing in recent memory. Many families continue to struggle with the impact of joblessness. The number of homeless children and youth is staggering. Families struggle with access to health care, growing hunger and greater instability in the family unit.…

  18. Stable Black Families. Final Report.

    ERIC Educational Resources Information Center

    Gary, Lawrence E.; And Others

    This document is the final report of a study conducted to determine what factors contribute to strong Black family life and how these strong families solve problems, in order to add to the knowledge base on stable families so as to enhance practical intervention with families in need, and to identify models of self-help strategies used by stable…

  19. BOUNDING FAMILIES OF RULED SURFACES

    Microsoft Academic Search

    FRANCISCO JAVIER GALLEGO; LUIS GIRALDO; IGNACIO SOLS

    In this paper we provide a sharp bound for the dimension of a family of ruled surfaces of degree d in P3 K. We also nd the families with maximal dimension: the family of ruled surfaces containing two unisecant skew lines, when d 9 and the family of rational ruled surfaces, when d 9. The rst tool we use is

  20. The Power of Family Literacy.

    ERIC Educational Resources Information Center

    National Center for Family Literacy, Louisville, KY.

    This report presents the early findings from the analysis of a family literacy demonstration project under the direction of the National Center for Family Literacy. The data in this report are based upon the experiences of over 300 families who participated in the Toyota Families for Learning Program during the 1992-1993 school year. The first…

  1. The Crises in Family Therapy

    Microsoft Academic Search

    Peter R. Gross

    1992-01-01

    This article critically examines the theoretical base of family therapy. It is argued that family therapy lacks a unified theoretical base. The “theories” underlying family therapy are seen as practical guidelines rather than comprehensive models of family functioning, hence, there is not a close link between theory and practice in this field. Furthermore, those theories do not specify the processes

  2. Family Health and Medical Record. 

    E-print Network

    Shirer, Mary Ann

    1982-01-01

    .................................... . ............................... 12 Accidental Injury Record ........... . ..... .... .......... .... . . .. . .. . ... . ..................... 13 Allergy/Sensitivity Record ................................................. .. ................ 14 Medical and Dental Checkups... about your family's health, a system of record keeping is helpful, if not necf 'ry. This Family Health and Medical Record booklet pre es a way for you to ~ 3p track of heaiL .. . nforn.ation about your family. If families used only one doctor and one...

  3. PREPARING STUDENTS FOR FAMILY PRACTICE

    Microsoft Academic Search

    Kris Kissman; Kathleen Tunney

    2001-01-01

    This paper highlights the content of a course designed to prepare students for family practice, with emphasis on mothers as primary caregivers. A model is presented of relatively healthy family interactions characterized by co-parenting and equitable division of labor in the home. The strengths perspective is applied to family prac- tice with mother-headed families where noncustodial fathers share responsibilities for

  4. Phrase versus Phase: Family Engagement

    Microsoft Academic Search

    Margaret M. Ferrara

    2011-01-01

    A qualitative research design was developed to explore a simple question: Is “family engagement” simply a new phrase or is it a synonym for “family involvement?” This study explored to what degree school leaders gained an understanding of family engagement; more importantly, to what degree did the administrators and teachers implement” family engagement” by the end of the first year?

  5. Gendered Discourse about Family Business

    ERIC Educational Resources Information Center

    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…

  6. Family health in chronic illness

    Microsoft Academic Search

    Mona Lisa Newsome Wicks

    1992-01-01

    The purpose of this study was to examine the factors that influence family health in families coping with a member diagnosed with chronic obstructive pulmonary disease. The relationships between family health and four dependent variables (time since diagnosis, perception of symptom severity, concurrent family stressors, and caregiver burden) were tested. The study model incorporated concepts derived from King's conceptual framework

  7. Trends in Family Child Care

    ERIC Educational Resources Information Center

    Neugebauer, Roger

    2011-01-01

    The author presents insights from various readers of "ExchangeEveryDay" regarding trends in the world of family child care. Kathleen Reticker of Acre Family Child Care in Lowell, Massachusetts thinks an increasing trend in Family Child Care is the pressure to emulate a Center, instead of seeing family child care as a different model. Over the…

  8. The effect of pathological gambling on families, marriages, and children.

    PubMed

    Shaw, Martha C; Forbush, Kelsie T; Schlinder, Jessica; Rosenman, Eugene; Black, Donald W

    2007-08-01

    Pathological gambling (PG) is widely reported to have negative consequences on marriages, families, and children. Empirical evidence is only now accumulating but when put together with anecdotal information, the extent of these problems is clear. PG contributes to chaos and dysfunction within the family unit, disrupts marriages, leading to high rates of separation and divorce, and is associated with child abuse and neglect. Divorce rates are high, not surprising in light of reports that these marriages are often abusive. Research shows that the families of pathological gamblers are filled with members who gamble excessively, suffer from depressive or anxiety disorders, and misuse alcohol, drugs, or both. Families of persons with PG are also large, a variable independently related to family dysfunction. The authors review the evidence on the impact of PG on families, marriages, and offspring, and make recommendations for future research targeting these problems. PMID:17667890

  9. $?(27)$ family symmetry and neutrino mixing

    E-print Network

    Ivo de Medeiros Varzielas

    2015-07-01

    The observed neutrino mixing, having a near maximal atmospheric neutrino mixing angle and a large solar mixing angle, is close to tri-bi-maximal. This structure may be related to the existence of a discrete non-Abelian family symmetry. In this paper the family symmetry is the non-Abelian discrete group $\\Delta(27)$, a subgroup of $SU(3)$ with triplet and anti-triplet representations. Different frameworks are constructed in which the mixing follows from combining fermion mass terms with the vacuum structure enforced by the discrete symmetry. Mass terms for the fermions originate from familon triplets, anti-triplets or both. Vacuum alignment for the family symmetry breaking familons follows from simple invariants.

  10. Preventive Medicine and the Family

    PubMed Central

    Christie-Seely, Janet

    1981-01-01

    Studies have demonstrated the links between the family system and illness, emphasizing the importance of prevention on a family level for physical as well as psychological illness. Brief preventive counselling on routine visits is possible if the physician knows the family well and understands the principles of the family as a system. Periods of high risk when illness and family dysfunction increase in incidence are the normal “crises” of the family life cycle, medical crises of illness, hospitalization and death, and non-medical crises. High-risk families should be identified; secondary prevention is an important role for the family physician who sees family problems at a much earlier stage than the psychiatrist or marital or family therapist. PMID:21289689

  11. IRAS asteroid families

    NASA Technical Reports Server (NTRS)

    Veeder, G. J.; Williams, J. G.; Tedesco, E. F.; Matson, D. L.

    1991-01-01

    The Infrared Astronomical Satellite (IRAS) sampled the entire asteroid population at wavelengths from 12 to 100 microns during its 1983 all sky survey. The IRAS Minor Planet Survey (IMPS) includes updated results for more recently numbered as well as other additional asteroids with reliable orbital elements. Albedos and diameters were derived from the observed thermal emission and assumed absolute visual magnitudes and then entered into the IMPS database at the Infrared Processing and Analysis Center (IPAC) for members of the Themis, Eos, Koronis and Maria asteroid families and compared with their visual colors. The IMPS results for the small (down to about 20 km) asteroids within these major families confirm trends previously noted for their larger members. Each of these dynamical families which are defined by their similar proper elements appears to have homogeneous physical properties.

  12. Emotional Problems — A Family Affair

    PubMed Central

    Weston, W. W.

    1972-01-01

    It is important for the family physician to be able to utilize family treatment concepts to help him understand the families in his care. He should recognize how family dysfunction contributes to the problems of his individual patients. He should be able to help these families recognize and deal with many of their problems and should be aware of his own limitations and when consultation is indicated. PMID:20468782

  13. 1.OA Fact Families

    NSDL National Science Digital Library

    This is a task from the Illustrative Mathematics website that is one part of a complete illustration of the standard to which it is aligned. Each task has at least one solution and some commentary that addresses important asects of the task and its potential use. Here are the first few lines of the commentary for this task: Materials * Fact Family work sheets * Blank addition and subtraction frames (2 of each) * Numbers cards in fact-family sets Actions As a whole class, t...

  14. Familial Behçet's disease.

    PubMed

    Yilmaz, Sema; Cimen, Kadriye Akar

    2010-06-01

    Behçet's disease (BD) is a multisystemic vasculitis syndrome characterized by a course of remissions and exacerbations of unpredictable frequency and duration. The disease has a worldwide distribution, but the majority of cases cluster along the ancient Silk Road, which extends from eastern Asia to the Mediterranean basin. The etiopathogenesis of BD is still unknown, but familial aggregation and peculiar geographical distribution have been regarded as evidence supporting genetic influence on the pathogenesis of BD. In this article, we describe a patient with BD, who had four members of his family associated with BD. PMID:19575202

  15. Familial pancreatic lymphoma.

    PubMed Central

    James, J A; Milligan, D W; Morgan, G J; Crocker, J

    1998-01-01

    Non-Hodgkin's lymphoma is not commonly a familial condition. This is believed to be the first two cases of primary pancreatic lymphoma within a single family. The two cases, a brother and sister, both presented in their 60s and were diagnosed histologically as having high grade B cell lymphoma affecting the pancreas, an uncommon primary site. Both responded well to treatment with chemotherapy and were in remission at the time of writing. On further investigation it was found that their mother also presented with a malignant lymphoma of cervical nodes 30 years earlier and subsequently died of the disease. Images PMID:9577380

  16. Family Patterns Associated with Anorexia Nervosa.

    ERIC Educational Resources Information Center

    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…

  17. Family psychopathology: Cross training graduate marital and family therapy students in family assessment and psychiatric nosology

    Microsoft Academic Search

    A. Melton Strozier; Mary Anne Armour

    1993-01-01

    The structure of a course entitled Family Therapy with Major Psychopathology taught annually in the Mercer University Graduate Marriage and Family Therapy Program is presented. An epistemological presentation regarding the interface of psychiatric nosology and family systems assessment is discussed. Methods of diagnosing and assessing dysfunctional family systems are presented and training in individual psychiatric nosology is discussed, with particular

  18. Family Support Builds Stronger Families: The Roots of Family-Supportive Child Care

    ERIC Educational Resources Information Center

    Seiderman, Ethel

    2009-01-01

    Parent Services Project (PSP) is one model of family support that emerged from the heightened awareness of families' needs. Founded in 1980 to integrate family support into four San Francisco Bay Area early childhood programs, PSP since has spread to more than 800 organizations serving 30,000 families in Alaska, California, Delaware, Florida,…

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

    ERIC Educational Resources Information Center

    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…

  20. Family management after the sudden death of a family member.

    PubMed

    Wiegand, Debra L

    2012-02-01

    Although more is known about how individuals within families make decisions and manage more discrete issues when a family member is dying, less is known about how families as a unit manage after the sudden death of a family member. The article discusses an investigation that was conducted to better understand how families respond to the life-threatening illness or injury and eventual death of a family member. The purpose of the study was to define Family Management Styles (FMSs) and determine distinctive characteristics of each FMS used by families after the death of a family member who had life-sustaining therapy withdrawn as a result of an unexpected, life-threatening illness or injury. Interviews are conducted with 8 families (22 family members) 1 to 2 years after the death of their family members. A modified typology of FMSs based on a directed analysis that was then inductively modified includes: progressing, accommodating, maintaining, struggling, and floundering. Understanding FMSs and how FMSs may change over time, reflecting the changing focus of family work, will further aid in the development of family-focused interventions as well as develop FMSs within the context of end of life. PMID:22223496

  1. The Consequences of Witnessing Family Violence on Children and Implications for Family Counselors

    ERIC Educational Resources Information Center

    Adams, Christopher M.

    2006-01-01

    Although a large number of children are directly abused, an even larger number may indirectly experience the effects of abuse as witnesses of family violence. However, the effects on children who witness such violence have long been unaddressed, although a growing body of research indicates that these children are affected in various domains,…

  2. Elevated Rates of Schizophrenia in a Familial Sample with Mental Illness and Intellectual Disability

    ERIC Educational Resources Information Center

    Greenwood, C. M. T.; Husted, J.; Bomba, M. D.; Hodgkinson, K. A.; Bassett, A. S.

    2004-01-01

    It is unknown whether intellectual disability (ID) is more familially related to psychotic mood disorders or schizophrenia. L. S. Penrose's large sample of families with two or more members admitted to psychiatric hospitals provided a unique opportunity to investigate the familial relationship between mild ID, schizophrenia and psychotic affective…

  3. Meta-MEME: motif-based hidden Markov models of protein families

    Microsoft Academic Search

    William Noble Grundy; Timothy L. Bailey; Charles P. Elkan; Michael E. Baker

    1997-01-01

    Motivation: Modeling families of related biological sequences using Hidden Markov models (HMMs), although increasingly widespread, faces at least one major problem: because of the complexity of these mathematical models, they require a relatively large training set in order to accurately recognize a given family. For families in which there are few known sequences, a standard linear HMM contains too many

  4. Alcohol Involvement and Family Violence in a High Risk Sample: I. Spousal Violence.

    ERIC Educational Resources Information Center

    Reider, Eve E.; And Others

    This report presents cross-sectional data on the relationships of alcohol difficulties, antisocial behavior, family conflict, family violence, and, particularly, spousal violence. The data were derived from a large-scale, longitudinal study of causes of alcohol abuse and the development of patterns of family violence. Subjects in the part of the…

  5. An analysis of the Hygiea asteroid family orbital region

    NASA Astrophysics Data System (ADS)

    Carruba, V.

    2013-06-01

    (10) Hygiea is the fourth largest asteroid of the main belt, by volume and mass, and it is the largest member of its family, that is made mostly by low-albedo, C-type asteroids, typical of the outer main belt. Like many other large families, it is associated with a `halo' of objects, that extends far beyond the boundary of the core family, as detected by traditional hierarchical clustering methods (HCM) in proper element domains. Numerical simulations of the orbital evolution of family members may help in estimating the family and halo family age, and the original ejection velocity field. But, in order to minimize the errors associated with including too many interlopers, it is important to have good estimates of family membership that include available data on local asteroid taxonomy, geometrical albedo and local dynamics. For this purpose, we obtained synthetic proper elements and frequencies of asteroids in the Hygiea orbital region, with their errors. We revised the current knowledge on asteroid taxonomy, including Sloan Digital Sky Survey-Moving Object Catalog 4th release (SDSS-MOC 4) data, and geometric albedo data from Wide-field Infrared Survey Explorer (WISE) and Near-Earth Object WISE (NEOWISE). We identified asteroid family members using HCM in the domain of proper elements (a, e, sin (i)) and in the domains of proper frequencies most appropriate to study diffusion in the local web of secular resonances, and eliminated possible interlopers based on taxonomic and geometrical albedo considerations. To identify the family halo, we devised a new hierarchical clustering method in an extended domain that includes proper elements, principal components PC1, PC2 obtained based on SDSS photometric data and, for the first time, WISE and NEOWISE geometric albedo. Data on asteroid size distribution, light curves and rotations were also revised for the Hygiea family. The Hygiea family is the largest group in its region, with two smaller families in proper element domain and 18 families in various frequencies domains identified in this work for the first time. Frequency groups tend to extend vertically in the (a, sin (i)) plane and cross not only the Hygiea family but also the near C-type families of Themis and Veritas, causing a mixture of objects all of relatively low albedo in the Hygiea family area. A few high-albedo asteroids, most likely associated with the Eos family, are also present in the region. Finally, the new multidomains hierarchical clustering method allowed us to obtain a good and robust estimate of the membership of the Hygiea family halo, quite separated from other asteroids families halo in the region, and with a very limited (about 3 per cent) presence of likely interlopers.

  6. A familial syndromal form of omphalocele.

    PubMed

    Port-Lis, Marylin; Leroy, Camille; Manouvrier, Sylvie; Escande, Fabienne; Passemard, Sandrine; Perrin, Laurence; Capri, Yline; Gérard, Bénédicte; Verloes, Alain

    2011-01-01

    Omphalocele is a relatively common developmental anomaly of the abdominal wall. Isolated omphalocele is generally regarded as a sporadic malformation with a negligible recurrence risk, although rare familial occurrences have been reported, compatible with AD, AR and XLR inheritance. Omphaloceles occurring in a syndromal context are strongly correlated with various types of chromosomal anomalies. Few monogenic syndromes have a high frequency of omphalocele. We report a family with facial dysmorphism somewhat reminiscent of Robinow syndrome (flat face, very short, upturned nose, very long and unusually wide philtrum, and flattened maxillary arch), observed in 3 generations. Four sibs in the second generations had large omphaloceles. One child had ectrodactyly. Genomic rearrangements, and WNT5A or ROR2 mutations were excluded in this family. At this point, we feel reasonable to consider this family as expressing a "new" syndrome related but different from Robinow syndrome, associating facial dysmorphism and abdominal wall defect, and compatible with dominant inheritance with variable expressivity, although recessively inherited omphalocele occurring in a family showing independently some dominant craniofacial peculiarities cannot be ruled out. PMID:21333766

  7. Family Life Cycle: 1980.

    ERIC Educational Resources Information Center

    Norton, Arthur J.

    1983-01-01

    Used data from a 1980 national sample survey to show differences in the timing of major family life-cycle events according to age, social and economic characteristics, and marital history. Results suggest that age generational differences, more than any other factor, influence timing of life-cycle events. (Author/JAC)

  8. Family & Consumer Sciences

    Microsoft Academic Search

    Nancy Kay Murray; Knoxville Susan Rogers; R. D. San; Kay M. Wilder; Evans Hall

    PurposesTo instill a knowledge of the role and significance of social, economic, and political influences on human life; • To provide students with the understanding of the development of personal and interpersonal skills for successful personal, professional, and family life; multicultural relations; integrity, and high moral values; • To educate students in the comprehension of physical, emotional and social development

  9. UNH Veterans & Family weekend

    E-print Network

    New Hampshire, University of

    1st annual UNH Veterans & Family weekend Golf Tournament Friday, October 24, 2014 We're proud to announce the 1st annual UNH Veterans Golf Tournament. The University of New Hampshire Student Armed Forces Association (SAFA) is pleased to announce their first annual Veteran Charity Golf Tournament! New Hampshire

  10. Familial hypercholesterolaemia in Portugal

    Microsoft Academic Search

    M. Bourbon; A. C. Alves; A. M. Medeiros; S. Silva; A. K. Soutar

    2008-01-01

    Familial hypercholesterolaemia (FH) is characterised clinically by an increased level of circulating LDL cholesterol that leads to lipid accumulation in tendons and arteries, premature atherosclerosis and increased risk of coronary heart disease (CHD). Although Portugal should have about 20,000 cases, this disease is severely under-diagnosed in our country, this being the first presentation of Portuguese data on FH. A total

  11. All in the Family

    ERIC Educational Resources Information Center

    Lum, Lydia

    2010-01-01

    Even as a little girl, Dr. Nitasha Sharma aspired to become a college professor like her parents, whose careers let the family spend entire summers or longer in either her mother's native Brooklyn, New York, or her father's native India. She dreamed of long vacations as a grown-up and going home for lunch on weekdays. But during a stay in India…

  12. Not Your Family Farm

    ERIC Educational Resources Information Center

    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,…

  13. Supporting Family Choice

    ERIC Educational Resources Information Center

    Murray, Mary M.; Christensen, Kimberly A.; Umbarger, Gardner T.; Rade, Karin C.; Aldridge, Kathryn; Niemeyer, Judith A.

    2007-01-01

    Supporting family choice in the decision-making process is recommended practice in the field of early childhood and early childhood special education. These decisions may relate to the medical, educational, social, recreational, therapeutic/rehabilitative, and community aspects of the child's disability. Although this practice conveys the message…

  14. Family Science Day

    ERIC Educational Resources Information Center

    McCubbins, Sara; Thomas, Bethany; Vetere, Michael

    2014-01-01

    This article describes a family-friendly science day event that encourages scientific discovery through hands-on activities, while also providing an opportunity to learn about scientific careers from actual research scientists and science educators, thereby raising awareness of the importance of STEM in our society. The one-day event bought…

  15. MALAYSIAN FAMILY LIFE SURVEY

    EPA Science Inventory

    The Malaysian Family Life Surveys (MFLS) comprise a pair of surveys with partially overlapping samples, designed by RAND and administered in Peninsular Malaysia in 1976-77 (MFLS-1) and 1988-89 (MFLS-2). Each survey collected detailed current and retrospective information on famil...

  16. Order: Coleoptera Family: Chrysomelidae

    E-print Network

    Liskiewicz, Maciej

    Order: Coleoptera Family: Chrysomelidae Species: Cerotoma trifurcata (Forster) Size: Adults numbers of black spots (Fig. 1). Although some have no spots, most will have four black spots down characteristic is that all have a distinct black triangle behind the prothorax. Eggs are reddish orange ovals

  17. New Student & Family Programs

    E-print Network

    Staum, Jeremy

    Student & Family Programs (NSFP) Andrea Farnan, Grad Intern, NSFPDaniel MacKenzie, Assistant Director #12; Pay Tuition and Fees ­ Due September 1st Complete loan and financial aid to-do list in CAESAR (Ship to School Vendor) to arrive to NU no later than Sept. 10th · Boxes through that process

  18. Family First Considerations

    ERIC Educational Resources Information Center

    LaFee, Scott

    2012-01-01

    The typical superintendent these days is male (though the percentage of female superintendents is steadily rising, now accounting for one in four, according to AASA's 2010 decennial study of the superintendency), in his 40s and almost always married with children. When educators become superintendents, the issues of family dynamics and related…

  19. Benign familial hyperphosphatasemia

    SciTech Connect

    Siraganian, P.A.; Mulvihill, J.J.; Mulivor, R.A.; Miller, R.W. (National Institutes of Health, Bethesda, MD (USA))

    1989-03-03

    Elevated alkaline phosphatase activity in serum suggests bone or liver disease or a neoplasm but can also indicate pregnancy or another benign condition. A family with benign hyperphosphatasemia was studied to elucidate the genetics and enzyme defect. Serum total alkaline phosphatase activity was greater than the population mean in all six family members, and more than 7 SDs above the mean in two of four offspring. Monoclonal antibodies to three alkaline phosphatase isoenzymes, intestinal, placental, and tissue nonspecific demonstrated markedly increased intestinal alkaline phosphatase levels in all family members and significantly elevated liver/bone/kidney activity in the two offspring. Guanidine hydrochloride denaturation of the liver/bone/kidney component showed high alkaline phosphatase activity from liver in both siblings and from bone in one. The mode of inheritance in this family is obscure, but a complex regulation of the products of two different alkaline phosphatase genes seems likely. Steps toward diagnosis are suggested. Early recognition of this benign biochemical abnormality should help to avoid unnecessary diagnostic tests.

  20. Family Feathers. [Videotape Series].

    ERIC Educational Resources Information Center

    1999

    Family Feathers is a set of 18 videotapes for parents of preschool children, created by the Alaska Native Home Base Video Project of the Tlingit and Haida Head Start Program. This series offers culturally relevant solutions to the challenges of parenting, drawing on practical advice from Tlingit and Haida parents, wisdom from elders, and some of…