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Selected AbstractsMutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function,,HUMAN MUTATION, Issue 4 2008Saima Riazuddin Abstract Recessive mutations of MYO7A, encoding unconventional myosin VIIA, can cause either a deaf-blindness syndrome (type 1 Usher syndrome; USH1B) or nonsyndromic deafness (DFNB2). In our study, deafness segregating as a recessive trait in 24 consanguineous families showed linkage to markers for the DFNB2/USH1B locus on chromosome 11q13.5. A total of 23 of these families segregate USH1 due to 17 homozygous mutant MYO7A alleles, of which 14 are novel. One family segregated nonsyndromic hearing loss DFNB2 due to a novel three-nucleotide deletion in an exon of MYO7A (p.E1716del) encoding a region of the tail domain. We hypothesized that DFNB2 alleles of MYO7A have residual myosin VIIA. To address this question we investigated the effects of several mutant alleles by making green fluorescent protein (GFP) tagged cDNA expression constructs containing engineered mutations of mouse Myo7a at codons equivalent to pathogenic USH1B and DFNB2 alleles of human MYO7A. We show that in transfected mouse hair cells an USH1B mutant GFP-myosin VIIa does not localize properly to inner ear hair cell stereocilia. However, a GFP-myosin VIIa protein engineered to have an equivalent DFNB2 mutation to p.E1716del localizes correctly in transfected mouse hair cells. This finding is consistent with the hypothesis that p.E1716del causes a less severe phenotype (DFNB2) than the USH1B -associated alleles because the resulting protein retains some degree of normal function. Hum Mutat 29(4), 502,511, 2008. Published 2008 Wiley-Liss, Inc. [source] MicroRNAs, the epigenetic memory and climatic adaptation in Norway spruceNEW PHYTOLOGIST, Issue 4 2010Igor A. Yakovlev Summary ,Norway spruce expresses a temperature-dependent epigenetic memory from the time of embryo development, which thereafter influences the timing bud phenology. MicroRNAs (miRNAs)are endogenous small RNAs, exerting epigenetic gene regulatory impacts. We have tested for their presence and differential expression. ,We prepared concatemerized small RNA libraries from seedlings of two full-sib families, originated from seeds developed in a cold and warm environment. One family expressed distinct epigenetic effects while the other not. We used available plant miRNA query sequences to search for conserved miRNAs and from the sequencing we found novel ones; the miRNAs were monitored using relative real time-PCR. ,Sequencing identified 24 novel and four conserved miRNAs. Further screening of the conserved miRNAs confirmed the presence of 16 additional miRNAs. Most of the miRNAs were targeted to unknown genes. The expression of seven conserved and nine novel miRNAs showed significant differences in transcript levels in the full-sib family showing distinct epigenetic difference in bud set, but not in the nonresponding full-sib family. Putative miRNA targets were studied. ,Norway spruce contains a set of conserved miRNAs as well as a large proportion of novel nonconserved miRNAs. The differentially expression of specific miRNAs indicate their putative participation in the epigenetic regulation. [source] Fibonacci grids: A novel approach to global modellingTHE QUARTERLY JOURNAL OF THE ROYAL METEOROLOGICAL SOCIETY, Issue 619 2006Richard Swinbank Abstract Recent years have seen a resurgence of interest in a variety of non-standard computational grids for global numerical prediction. The motivation has been to reduce problems associated with the converging meridians and the polar singularities of conventional regular latitude,longitude grids. A further impetus has come from the adoption of massively parallel computers, for which it is necessary to distribute work equitably across the processors; this is more practicable for some non-standard grids. Desirable attributes of a grid for high-order spatial finite differencing are: (i) geometrical regularity; (ii) a homogeneous and approximately isotropic spatial resolution; (iii) a low proportion of the grid points where the numerical procedures require special customization (such as near coordinate singularities or grid edges); (iv) ease of parallelization. One family of grid arrangements which, to our knowledge, has never before been applied to numerical weather prediction, but which appears to offer several technical advantages, are what we shall refer to as ,Fibonacci grids'. These grids possess virtually uniform and isotropic resolution, with an equal area for each grid point. There are only two compact singular regions on a sphere that require customized numerics. We demonstrate the practicality of this type of grid in shallow-water simulations, and discuss the prospects for efficiently using these frameworks in three-dimensional weather prediction or climate models. © Crown copyright, 2006. Royal Meteorological Society [source] A region on equine chromosome 13 is linked to recurrent airway obstruction in horsesEQUINE VETERINARY JOURNAL, Issue 3 2007U. JOST Summary Reasons for study: Equine recurrent airway obstruction (RAO) is probably dependent on a complex interaction of genetic and environmental factors and shares many characteristic features with human asthma. Interleukin 4 receptor , chain (IL4RA) is a candidate gene because of its role in the development of human asthma, confirmation of this association is therefore required. Methods: The equine BAC clone containing the IL4RA gene was localised to ECA13q13 by the FISH method. Microsatellite markers in this region were investigated for possible association and linkage with RAO in 2 large Warmblood halfsib families. Based on a history of clinical signs (coughing, nasal discharge, abnormal breathing and poor performance), horses were classified in a horse owner assessed respiratory signs index (HOARSI 1,4: from healthy, mild, moderate to severe signs). Four microsatellite markers (AHT133, LEX041, VHL47, ASB037) were analysed in the offspring of Sire 1 (48 unaffected HOARSI 1 vs. 59 affected HOARSI 2,4) and Sire 2 (35 HOARSI 1 vs. 50 HOARSI 2,4), age ,7 years. Results: For both sires haplotypes could be established in the order AHT133-LEX047-VHL47-ASB37. The distances in this order were estimated to be 2.9, 0.9 and 2.3 centiMorgans, respectively. Haplotype association with mild to severe clinical signs of chronic lower airway disease (HOARSI 2,4) was significant in the offspring of Sire 1 (P = 0.026) but not significant for the offspring of Sire 2 (P = 0.32). Linkage analysis showed the ECA13q13 region containing IL4RA to be linked to equine chronic lower airway disease in one family (P<0.01), but not in the second family. Conclusions: This supports a genetic background for equine RAO and indicates that IL4RA is a candidate gene with possible locus heterogeneity for this disease. Potential relevance: Identification of major genes for RAO may provide a basis for breeding and individual prevention for this important disease. [source] Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type IIEUROPEAN JOURNAL OF ORAL SCIENCES, Issue 5 2006Heidi Holappa Dentinogenesis imperfecta (DGI) type II (OMIM # 125490) is an inherited disorder affecting dentin. Defective dentin formation results in discolored teeth that are prone to attrition and fracture. To date, several mutations have been described in the dentin sialophosphoprotein (DSPP) gene, causing DGI types II and III and dentin dysplasia type II. DSPP encodes two proteins: dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). Here, we describe a mutational analysis of DSPP in seven Finnish families with DGI type II. We report two mutations and five single nucleotide polymorphisms. In one family we found a mutation that has been described earlier in families with different ethnicity, while in six families we found a novel g.1194C>A (IVS2-3) transversion. Bioinformatic analysis of known DSPP mutations suggests that DGI type II is usually caused by aberration of normal splicing. [source] Tales Full of Sound and Fury: A Cultural Approach to Family Therapeutic Work and Research in Rural Scandinavia,FAMILY PROCESS, Issue 3 2000Michael R. Seltzer Ph.D. The concept of "culture" figured prominently in the development of family therapy. Recent conceptualizations, however, have tended to focus primarily on the ideational dimensions of culture. While not disputing that meanings and other ideas constitute significant features of group lifeways, this article proposes a return to earlier anthropological framings that incorporate material and ideational dimensions of cultures. To illustrate how his expanded concept may serve as a guide for therapeutic work, the article describes therapy with one family at a clinic in rural Scandinavia. We especially focus on the place of key symbols as historical links between the ideational and material dimensions of cultures. The perspective developed here is one of seeing cultures as sets of interpenetrating actions and ideas shaped by as well as shaping their practitioners. [source] The chitinolytic system of Lactococcus lactis ssp. lactis comprises a nonprocessive chitinase and a chitin-binding protein that promotes the degradation of ,- and ,-chitinFEBS JOURNAL, Issue 8 2009Gustav Vaaje-Kolstad It has recently been shown that the Gram-negative bacterium Serratia marcescens produces an accessory nonhydrolytic chitin-binding protein that acts in synergy with chitinases. This provided the first example of the production of dedicated helper proteins for the turnover of recalcitrant polysaccharides. Chitin-binding proteins belong to family 33 of the carbohydrate-binding modules, and genes putatively encoding these proteins occur in many microorganisms. To obtain an impression of the functional conservation of these proteins, we studied the chitinolytic system of the Gram-positive Lactococcus lactis ssp. lactis IL1403. The genome of this lactic acid bacterium harbours a simple chitinolytic machinery, consisting of one family 18 chitinase (named LlChi18A), one family 33 chitin-binding protein (named LlCBP33A) and one family 20 N -acetylhexosaminidase. We cloned, overexpressed and characterized LlChi18A and LlCBP33A. Sequence alignments and structural modelling indicated that LlChi18A has a shallow substrate-binding groove characteristic of nonprocessive endochitinases. Enzymology showed that LlChi18A was able to hydrolyse both chitin oligomers and artificial substrates, with no sign of processivity. Although the chitin-binding protein from S. marcescens only bound to ,-chitin, LlCBP33A was found to bind to both ,- and ,-chitin. LlCBP33A increased the hydrolytic efficiency of LlChi18A to both ,- and ,-chitin. These results show the general importance of chitin-binding proteins in chitin turnover, and provide the first example of a family 33 chitin-binding protein that increases chitinase efficiency towards ,-chitin. [source] Gene structure of an antimicrobial peptide from mandarin fish, Siniperca chuatsi (Basilewsky), suggests that moronecidins and pleurocidins belong in one family: the piscidinsJOURNAL OF FISH DISEASES, Issue 6 2007B J Sun Abstract The gene of piscidin, an antimicrobial peptide, has been cloned from the mandarin fish, Siniperca chuatsi. From the first transcription initiation site, the mandarin fish piscidin gene extends 1693 nucleotides to the end of the 3, untranslated region and contains four exons and three introns. A predicted 79-residue prepropeptide consists of three domains: a signal peptide (22 aa), a mature peptide (22 aa) and a C-terminal prodomain (35 aa). The shortage of XQQ motif in the prodomain of mandarin fish piscidin and the similar gene structure between moronecidins (piscidins) and pleurocidins may indicate that they are derived from the same ancestor gene. We thus suggest that piscidin should be used as a terminology for these antimicrobial peptides in the future. The mandarin fish piscidin mRNA was abundant in intestine, spleen, pronephros and kidney analysed by real-time polymerase chain reaction. After stimulation with lipopoly saccharides (LPS), a marked increase in transcripts was observed in most tissues, indicating that piscidin is not only a constitutively expressed molecule, but also has an increased response to bacterial infection. The synthetic, amidated mandarin fish piscidin exhibited different antimicrobial activity against different fish bacterial pathogens, especially against species of Aeromonas, which may to certain extent reflect the pathogenicity of these bacteria. [source] The external gills of anuran amphibians: Comparative morphology and ultrastructureJOURNAL OF MORPHOLOGY, Issue 10 2008M. Nokhbatolfoghahai Abstract The external gills of anuran amphibians are transient structures, covered by the development of the operculum and regressing soon afterwards. Their functional role has been regarded as equivocal. However, detailed morphological analysis has been limited. Analysis of 21 species from six families using scanning and transmission electron microscopy revealed diversity at the anatomical and cellular levels in extent and length of gill filaments, numbers of surface ciliated cells, width of water-blood barrier distance, and evidence of gill motility. The most highly developed external gills were found in species with delayed hatching, such as Phyllomedusa trinitatis, or in species in which hatchlings hang from the surface film of temporary ponds, such as Phrynohyas venulosa in which gills added 26,38% to body surface area. In one family, the bufonids, all four species examined had poorly developed gills, but in other families where we examined several species, the hylids and leptodactylids, there was considerable diversity of external gills, suggesting flexible adaptation to incubation and hatching environment. J. Morphol., 2008. © 2008 Wiley-Liss, Inc. [source] Neonatal hemochromatosis , medical treatment vs.LIVER TRANSPLANTATION, Issue 11 2005Transplantation: The king's experience The aim of our study was to compare the outcome of medical treatment vs. liver transplantation in infants with neonatal hemochromatosis (NH) referred to King's College Hospital from 1990-2002. We conducted a retrospective review of 19 children from 14 families. Fifteen children presented at birth and 4 during the first week of life. One child was diagnosed by cordocentesis at 30 weeks of gestation. NH recurred in 7 of 9 families with further children. In one family, 2 children from different fathers were affected. All patients had elevated ferritin levels, hypoalbuminemia, and coagulopathy. Liver histology showed parenchymal collapse, diffuse fibrosis, and moderate to severe hepatocyte hemosiderin deposition. Extrahepatic siderosis was demonstrated by magnetic resonance in 2 patients, lip biopsy in 3, and autopsy in 10. Ten patients received a chelation-antioxidant cocktail: 1 survived, 4 died, and 5 required liver transplantation, of whom 2 died. One of the 9 infants who did not receive the cocktail survived with medical support, 3 died, and 5 required transplantation, of whom 3 died. Seven children are alive, 5 after transplantation, at a median follow-up of 5.6 years, with excellent quality of life and no recurrence of the disease. In conclusion, chelation-antioxidant treatment does not appear to modify the prognosis of NH, at least in severe cases. Liver transplantation, with 50% long-term survival, remains the treatment of choice and should be promptly offered to those infants who do not improve with supportive medical treatment. (Liver Transpl 2005;11:1417,1424.) [source] Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia,MOVEMENT DISORDERS, Issue 9 2010Alessandro Brussino MD Abstract SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia. The disease is caused by an expansion of ,51 CAGs in the 5, region of the brain- specific phosphatase 2 regulatory subunit B-beta isoform (PPP2R2B) gene. SCA12 is very rare, except for a single ethnic group in India. We screened 159 Italian ataxic patients for SCA12 and identified two families that segregated an expanded allele of 57 to 58 CAGs, sharing a common haplotype. The age at onset, phenotype, and variability of symptoms were compatible with known cases. In one family, the disease was apparently sporadic due to possible incomplete penetrance and/or late age at onset. Our data indicate that SCA12 is also present in Italian patients, and its genetic testing should be applied to both sporadic and familial ataxias. © 2010 Movement Disorder Society [source] Familial cases of Henoch-Schönlein purpura in eight familiesPEDIATRICS INTERNATIONAL, Issue 6 2005Osamu Motoyama AbstractBackground:,Familial cases of Henoch-Schönlein purpura (HSP) have rarely been reported. Methods:,Familial cases of HSP were reviewed by medical records of 418 children with HSP. Results:,Two members developed HSP in eight families. HSP occurred in a mother and her daughter in one family and in siblings, including one pair of twin sisters, in seven other families. Four pairs of patients developed HSP at the same age. Three pairs presented HSP within 1 month of each other and the other pairs presented HSP between 9 months and 5 years. Seven patients had a history of allergic diseases. The clinical courses of 12 patients were reviewed. Upper respiratory tract infection preceded HSP in 10 patients, two of whom had elevated antistreptolysin-O titers. No pairs of patients in a family received the same drugs before the onset of HSP. Abdominal pain was noted in eight patients, arthralgia in six and nephritis in four. Severity of skin lesions, presence of abdominal pain and nephritis, and serum IgA levels at the acute stage varied among family members of HSP. Conclusions:,The incidence of HSP in family members of children with HSP seems to be high. Onset at the same age and onset of HSP within 1 month in siblings have not previously been reported. There were no characteristic or similar findings between two patients of the same family. No trigger or genetic factor causing HSP was identified. [source] Familial myeloma and monoclonal gammopathy: A report of eight African American families,AMERICAN JOURNAL OF HEMATOLOGY, Issue 1 2009Maneesh Jain Previous descriptions of familial myeloma have been mainly of Caucasian families. We report here eight African American families with familial multiple myeloma and monoclonal gammopathy identified over a 30 year period. Six patients with multiple myeloma (MM) and two with monoclonal gammopathy of unknown significance (MGUS) reported a family history of MM or had family members with MGUS found on screening. A pedigree compiled for each family included a history of other cancers. In the eight families, 21 of 58 first degree relatives had a plasma cell dyscrasia including 12 MM, eight MGUS, and one amyloidosis patient(s). The age of the MM patients ranged from 50 to 78 years (median 61 years). Four families had two members with MM, including one mother,son and three sibling pairs. Two MM families each had two additional first degree relatives with MGUS, with three generations involved in one family. Anticipation was suggested in two families with parent,child pairs with monoclonal gammopathy. The eight pedigrees had 66 members, 21 of whom had a diagnosis of cancer, including non-Hodgkin lymphoma and Hodgkin disease, or a clonal myeloproliferative disorder other than MM. Although the mode of genetic transmission and anticipation cannot be confirmed due to the small sample size, the increased number of MM and MGUS family members suggests underlying genetic susceptibility factors for plasma cell dyscrasias and possibly for other cancers in these families. Am. J. Hematol., 2009. © 2008 Wiley-Liss, Inc. [source] Prenatal RHD gene determination and dosage analysis by PCR: clinical evaluationPRENATAL DIAGNOSIS, Issue 4 2001F.-Y. Chan Abstract Background , Use of the polymerase chain reaction (PCR) for detection of the RHD gene can measure the RHD gene status for unborn babies at risk for hemolytic disease of the newborn (HDN). The occurrence of D gene variants has led to errors in prenatal typing. Previous reports have highlighted the danger of assigning a positive fetus as negative, resulting in intrauterine fetal deaths. Objective , To evaluate the effectiveness of a testing strategy whereby PCR was not only performed to determine the presence/absence of the RHD gene, but also used to assess the D gene copy number (zero, one or two RHD genes) in family studies for at risk pregnancies. Methods , Samples comprising maternal (57) and paternal (42) peripheral blood samples, amniotic fluid (64), and matching cord blood (64) were collected. Rhesus (Rh) serotyping was performed on all blood samples. For RHD genotyping, DNA was extracted from all samples except for 28 cord samples, where only serotyping was performed (total 199 DNA genotyping). RHD gene PCR amplified exon 4 and exon 7 regions of the RHD gene. The dosage of RHD gene was determined by comparing the intensity of the RHD gene to that of the RHCE gene. Results , A total of 197/199 samples showed concordance between exon 4 and exon 7 PCR results. Two discrepant results occurred in one family: the father carried one normal D gene and one D gene variant where PCR was tested to be positive using exon 4 but negative using exon 7. One of a pair of dizygotic twins inherited this abnormal D gene and was mildly affected by HDN. This was correctly identified antenatally and the pregnancy successfully managed. The concordance rate between serotypes and genotypes for 135 blood samples was 100%. Amongst the family groups, 8/14 heterozygous fathers transmitted the D gene and 26/26 homozygous fathers transmitted the D gene to the babies. The concordance rate between RHD genotypes from amniotic fluid and Rh D serotypes from cord blood was also 100%. Conclusion , The present study demonstrates the effectiveness of using PCR in a clinical setting. It verifies the importance of testing more than one region of the gene, and also the need for a testing strategy where both maternal and paternal testing for RHD gene dosages are performed. Copyright © 2001 John Wiley & Sons, Ltd. [source] Response to cutting of Larrea divaricata and L. cuneifolia in ArgentinaAPPLIED VEGETATION SCIENCE, Issue 1 2002E. Martinez Carretero Abstract. The response of Larrea divaricata and L. cuneifolia to cutting stems 0,20 cm above the ground was studied in the arid piedmont area west of Mendoza, Argentina. The species occur at different elevations and in vegetation zones: L. cuneifolia < 1250 m; L. divaricata between 1250 and 2500 m. Four treatments with 10 replicates were analysed in randomly chosen plants: cut at ground level with lopping shears; cut at ground level with a pick; cut at 10 cm with lopping shears; and cut at 20 cm with lopping shears. The initial and final height, volume, and dry matter (above- and below-ground) were determined. The relation between volume and initial and final dry matter and height was analysed through a factorial MANOVA (p < 0,05), and the functional relation between volume, dry matter and height was estimated by adjusting a regression model. In both species, maximum recovery was reached when cut with shears, and predicted recovery (turnover) was 17-18 yr. In the two last treatments height was a useful predictor of dry matter. L. divaricata -dominated plots have a lower biomass, growth rate, and allocation to stems and root than L. cuneifolia -dominated plots. Regrowth following clipping on an area of 3,10 ha, is sufficient to support the annual needs (cooking and heating) of one family. [source] Loose anagen syndrome: A prospective study of three familiesAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 2 2002Alvin H Chong SUMMARY Loose anagen syndrome (LAS) is an autosomal dominant, age-related disorder characterized by the ability to easily and painlessly extract unsheathed anagen hairs from the scalp with a gentle hair pull. The phenotype is heterogeneous with three distinct clinical presentations. To further characterize the phenotype of loose anagen syndrome and its fluctuations over time, a prospective study of eight cases from three families was conducted over a period of 18 months. Patients were examined using standardized hair-pull and hair-pluck protocols. Each of the three different phenotypes of LAS were found to be present in one family. This implies that these phenotypes are variants of a single genotype, modified by environmental or age-related factors. The hair-pluck trichogram from LAS cases consistently showed a high proportion of loose anagen (LA) hairs. In contrast the hair-pull test was found to vary over time with regards to the number of LA hairs that could be extracted. Periods where no hairs could be obtained on hair pull were found. These findings have important implications in the diagnosis of LAS. A single negative hair-pull test does not exclude the diagnosis. If LAS is suspected on clinical grounds, then either a hair-pluck trichogram or serial re-examination by hair pull would be required to exclude the diagnosis. [source] Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductaseBRITISH JOURNAL OF HAEMATOLOGY, Issue 6 2005M. J. Percy Summary Type I recessive congenital methaemoglobinaemia (RCM), caused by the reduced form of nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase (cytb5r) deficiency, manifests clinically as cyanosis without neurological dysfunction. Two mutations, E255- and G291D, have been identified in the NADH-binding lobe of cytb5r in previously reported patients, and we have detected a further novel mutation, D239G, in this lobe in two unrelated Irish families. Although one family belongs to the genetically isolated Traveller Community, which separated from the general Irish population during the 1845,48 famine, the D239G mutation was present on the same haplotype in both families. Three known cytb5r mutations were also identified, including the R159- mutation, which causes loss of the entire NADH-binding lobe and had previously been reported in an individual with type II RCM. Characterization of the three NADH-binding lobe mutants using a heterologous expression system revealed that all three variants retained stoichiometric levels of flavin adenine dinucleotide with spectroscopic and thermodynamic properties comparable with those of native cytb5r. In contrast to the E255- and G291D variants, the novel D239G mutation had no adverse impact on protein thermostability. The D239G mutation perturbed substrate binding, causing both decreased specificity for NADH and increased specificity for NADPH. Thus cytb5r deficient patients who are heterozygous for an NADH-binding lobe mutation can exhibit the clinically less severe type I phenotype, even in association with heterozygous deletion of the NADH-binding lobe. [source] Refinement of the chromosome 16 locus for benign familial infantile convulsionsCLINICAL GENETICS, Issue 6 2005PMC Callenbach Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy syndrome of early childhood with remission before the age of 3 years. The syndrome has been linked to loci on chromosomes 1q23, 2q24, 16p12-q12, and 19q in various families. The aim of this study was to identify the responsible locus in four unrelated Dutch families with BFIC. Two of the tested families had pure BFIC; in one family, affected individuals had BFIC followed by paroxysmal kinesigenic dyskinesias at later age, and in one family, BFIC was accompanied by later-onset focal epilepsy in older generations. Linkage analysis was performed for the known loci on chromosomes 1q23, 2q24, 16p12-q12, and 19q. The two families with pure BFIC were linked to chromosome 16p12-q12. Using recombinants from these and other published families, the chromosome 16-candidate gene region was reduced from 21.4 Mb (4.3 cm) to 2.7 Mb (0.0 cm). For the other two families, linkage to any of the known loci was unlikely. In conclusion, we confirm the linkage of pure BFIC to chromosome 16p12-q12, with further refinement of the locus. Furthermore, the lack of involvement of the known loci in two of the families indicates further genetic heterogeneity for BFIC. [source] Female Adolescents and Their Sexuality: Notions of Honour, Shame, Purity and Pollution during the FloodsDISASTERS, Issue 1 2000Sabina Faiz Rashid This paper explores the experiences of female adolescents during the 1998 floods in Bangladesh, focusing on the implications of socio-cultural norms related to notions of honour, shame, purity and pollution. These cultural notions are reinforced with greater emphasis as girls enter their adolescence, regulating their sexuality and gender relationships. In Bangladeshi society, adolescent girls are expected to maintain their virginity until marriage. Contact is limited to one's families and extended relations. Particularly among poorer families, adolescent girls tend to have limited mobility to safeguard their ,purity'. This is to ensure that the girl's reputation does not suffer, thus making it difficult for the girl to get married. For female adolescents in Bangladesh, a disaster situation is a uniquely vulnerable time. Exposure to the unfamiliar environment of flood shelters and relief camps, and unable to maintain their ,space' and privacy from male strangers, a number of the girls were vulnerable to sexual and mental harassment. With the floods, it became difficult for most of the girls to be appropriately `secluded'. Many were unable to sleep, bathe or get access to latrines in privacy because so many houses and latrines were underwater. Some of the girls who had begun menstruation were distressed at not being able to keep themselves clean. Strong social taboos associated with menstruation and the dirty water that surrounded them made it difficult for the girls to wash their menstrual cloths or change them frequently enough. Many of them became separated from their social network of relations, which caused them a great deal of anxiety and stress. Their difficulty in trying to follow social norms have had far-reaching implications on their health, identity, family and community relations. [source] Disentangling Value Similarities and Transmissions in Established Marriages: A Cross-Lagged Longitudinal StudyJOURNAL OF MARRIAGE AND FAMILY, Issue 5 2006Annette M. C. Roest This study examined spousal value similarity and transmission across a 5-year period on four value orientations: traditional family values, self-determination, social criticism, and hedonism. Participants were 685 Dutch couples in established marriages. Structural equation modeling results indicated that spouses were moderately similar on all value orientations. Over time, spousal similarity remained for traditional family values, self-determination, and social criticism and decreased for hedonism. Direct spousal transmission occurred on social criticism and hedonism with wives influencing their husbands. Multiple group analyses revealed that wives' value transmission to husbands occurred only within couples with similar social positions (in education and religion) and with higher degrees of marital satisfaction. Findings confirm that experiences in one's family of destination contribute to midlife value development. [source] Identity and Healing in Three Navajo Religious Traditions: Sa'ah Naagháí Bik'eh HózhoMEDICAL ANTHROPOLOGY QUARTERLY, Issue 4 2000Elizabeth L. Lewton In this article, we elucidate how the Navajo synthetic principle Saah Naagháí Bik'eh Hózho (SNBH) is understood, demonstrated, and elaborated in three different Navajo healing traditions. We conducted interviews with Navajo healers and their patients affiliated with Traditional Navajo religion, the Native American Church, and Pentecostal Christianity. Their narratives provide access to cultural themes of identity and healing that invoke elements of SNBH. SNBH specifies that the conditions for health and well-being are harmony within and connection to the physical/spiritual world. Specifically, each religious healing tradition encourages affective engagement, proper family relations, an understanding of one's cultural and spiritual histories, and the use of kinship terms to establish affective bonds with one's family and with the spiritual world. People's relationships within this common behavioral environment are integral to their self-orientations, to their identities as Navajos, and to the therapeutic process. The disruption and restoration of these relationships constitute an important affective dimension in Navajo distress and healing. [Navajos, identity, religion, healing, health] [source] Different core beliefs predict paternal and maternal attachment representations in young womenCLINICAL PSYCHOLOGY AND PSYCHOTHERAPY (AN INTERNATIONAL JOURNAL OF THEORY & PRACTICE), Issue 3 2006J. Blissett Core beliefs about the self are hypothesized to be rooted in early interpersonal experiences, particularly with one's family (Young, 1999). This study aimed to assess the relationship between reports of core beliefs and current parental attachment in young women. Two hundred and six young women completed self-report questionnaires to ascertain their cognitive representations of their current attachment to parents (Parental Attachment Questionnaire: Kenny, 1987) and core beliefs (Young Schema Questionnaire: Young, 1998). Regression analyses revealed different predictors of maternal and paternal attachment functioning. Disconnection and rejection beliefs predicted young women's current attachment to their father, whereas the quality of current maternal attachment was predicted by a wider range of dysfunctional beliefs, including disconnection and rejection, impaired autonomy and performance, and impaired limits. The implications of these findings for understanding the relationship between core beliefs and attachment are discussed.,Copyright © 2006 John Wiley & Sons, Ltd. [source] | ||||||||||||||||||||||