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Sample records for recessive consanguineous pakistani

  1. Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH)

    PubMed Central

    Abbas, Seyyedha; Naveed, Abdul Khaliq; Khan, Shakir; Yousaf, Muhammad Jawad; Azeem, Zahid; Razak, Suhail; Qaiser, Fatima

    2014-01-01

    Objective(s): Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. Materials and Methods: Genomic DNA extraction had been done from peripheral blood samples. Extracted DNA was then subjected to PCR (polymerase chain reaction) for amplification. Linkage analysis was performed using 8% polyacrylamide gel. Candidate gene was sequenced after gene linkage supported at highly polymorphic microsatellite markers of the diseased region. Results: Both families were initially tested for linkage to known genes, which were involved in human hereditary hypotrichosis, by genotyping Highly polymorphic microsatellite markers. Family B showed partial linkage at P2RY5 gene on chromosome 13q14.11-q21.32; hence, all exonic regions and their introns boundaries were subjected to DNA sequencing for any pathogenic mutation. Conclusion: Both families were tested for linkage by genotyping polymorphic microsatellite markers linked to known alopecia loci. Family A excluded all known diseased regions that is suggestive of some novel chromosomal disorder. However, sequencing of P2RY5 gene in family B showed no pathogenic mutation. PMID:25429336

  2. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

    PubMed

    Riazuddin, S; Hussain, M; Razzaq, A; Iqbal, Z; Shahzad, M; Polla, D L; Song, Y; van Beusekom, E; Khan, A A; Tomas-Roca, L; Rashid, M; Zahoor, M Y; Wissink-Lindhout, W M; Basra, M A R; Ansar, M; Agha, Z; van Heeswijk, K; Rasheed, F; Van de Vorst, M; Veltman, J A; Gilissen, C; Akram, J; Kleefstra, T; Assir, M Z; Grozeva, D; Carss, K; Raymond, F L; O'Connor, T D; Riazuddin, S A; Khan, S N; Ahmed, Z M; de Brouwer, A P M; van Bokhoven, H; Riazuddin, S

    2016-07-26

    Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1-3% of the general population. Although research into the genetic causes of ID has recently gained momentum, identification of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behind, predominantly due to non-availability of sizeable families. Here we present the results of exome sequencing in 121 large consanguineous Pakistani ID families. In 60 families, we identified homozygous or compound heterozygous DNA variants in a single gene, 30 affecting reported ID genes and 30 affecting novel candidate ID genes. Potential pathogenicity of these alleles was supported by co-segregation with the phenotype, low frequency in control populations and the application of stringent bioinformatics analyses. In another eight families segregation of multiple pathogenic variants was observed, affecting 19 genes that were either known or are novel candidates for ID. Transcriptome profiles of normal human brain tissues showed that the novel candidate ID genes formed a network significantly enriched for transcriptional co-expression (P<0.0001) in the frontal cortex during fetal development and in the temporal-parietal and sub-cortex during infancy through adulthood. In addition, proteins encoded by 12 novel ID genes directly interact with previously reported ID proteins in six known pathways essential for cognitive function (P<0.0001). These results suggest that disruptions of temporal parietal and sub-cortical neurogenesis during infancy are critical to the pathophysiology of ID. These findings further expand the existing repertoire of genes involved in ARID, and provide new insights into the molecular mechanisms and the transcriptome map of ID.Molecular Psychiatry advance online publication, 26 July 2016; doi:10.1038/mp.2016.109.

  3. Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

    PubMed Central

    Naeem, Muhammad Asif; Gottsch, Alexander D. H.; Ullah, Inayat; Khan, Shaheen N.; Husnain, Tayyab; Butt, Nadeem H.; Qazi, Zaheeruddin A.; Akram, Javed; Riazuddin, Sheikh; Ayyagari, Radha; Hejtmancik, J. Fielding

    2015-01-01

    Purpose This study was undertaken to investigate the causal mutations responsible for autosomal recessive congenital stationary night blindness (CSNB) in consanguineous Pakistani families. Methods Two consanguineous families with multiple individuals manifesting symptoms of stationary night blindness were recruited. Affected individuals underwent a detailed ophthalmological examination, including fundus examination and electroretinography. Blood samples were collected and genomic DNA was extracted. Exclusion analyses were completed by genotyping closely spaced microsatellite markers, and two-point logarithm of odds (LOD) scores were calculated. All coding exons, along with the exon–intron boundaries of GRM6, were sequenced bidirectionally. Results According to the medical history available to us, affected individuals in both families had experienced night blindness from the early years of their lives. Fundus photographs of affected individuals in both the families appeared normal, with no signs of attenuated arteries or bone spicule pigmentation. The scotopic electroretinogram (ERG) response were absent in all of the affected individuals, while the photopic measurements show reduced b-waves. During exclusion analyses, both families localized to a region on chromosome 5q that harbors GRM6, a gene previously associated with autosomal recessive CSNB. Bidirectional sequencing of GRM6 identified homozygous single base pair changes, specifically c.1336C>T (p.R446X) and c.2267G>A (p.G756D) in families PKRP170 and PKRP172, respectively. Conclusions We identified a novel nonsense and a previously reported missense mutation in GRM6 that were responsible for autosomal recessive CSNB in patients of Pakistani decent. PMID:26628857

  4. CONSANGUINITY, GENETICS AND DEFINITIONS OF KINSHIP IN THE UK PAKISTANI POPULATION.

    PubMed

    Bittles, A H; Small, N A

    2016-11-01

    Consanguineous marriage is a controversial topic in many Western societies, with attention mainly focused on the health of immigrant communities from Asia and Africa. In the UK consanguinity is especially prevalent in the Pakistani community, which now numbers over 1.1 million. Less attention has been paid to the influence of hereditary population stratification within Pakistani communities, in particular biraderi (literally brotherhood) membership, which denotes male lineages that largely govern marriage partner choice and hence the transmission of disease genes. The various roles played by biraderi and their relationship to other socio-occupational and kinship terms, such as caste, quom and zat, are often overlooked in health-based studies. The interchangeable use of these different kinship terms without rigorous definition can create identity uncertainty and hinders inter-study comparisons. Where feasible, standardization of terminology would be both desirable and beneficial, with biraderi the preferred default term to identify specific social and genetic relationships within the Pakistani diaspora.

  5. The effect of reproductive compensation on recessive disorders within consanguineous human populations.

    PubMed

    Overall, A D J; Ahmad, M; Nichols, R A

    2002-06-01

    We investigate the effects of consanguinity and population substructure on genetic health using the UK Asian population as an example. We review and expand upon previous treatments dealing with the deleterious effects of consanguinity on recessive disorders and consider how other factors, such as population substructure, may be of equal importance. For illustration, we quantify the relative risks of recessive lethal disorders by presenting some simple calculations that demonstrate the effect 'reproductive compensation' has on the maintenance of recessive alleles. The results show how reproductive compensation can effectively counteract the purging of deleterious alleles within consanguineous populations. Whereas inbreeding does not elevate the equilibrium frequency of affected individuals, reproductive compensation does. We suggest this effect must be built into interpretations of the incidence of genetic disease within populations such as the UK Asians. Information of this nature will benefit health care workers who inform such communities.

  6. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

    PubMed

    Harripaul, R; Vasli, N; Mikhailov, A; Rafiq, M A; Mittal, K; Windpassinger, C; Sheikh, T I; Noor, A; Mahmood, H; Downey, S; Johnson, M; Vleuten, K; Bell, L; Ilyas, M; Khan, F S; Khan, V; Moradi, M; Ayaz, M; Naeem, F; Heidari, A; Ahmed, I; Ghadami, S; Agha, Z; Zeinali, S; Qamar, R; Mozhdehipanah, H; John, P; Mir, A; Ansar, M; French, L; Ayub, M; Vincent, J B

    2017-04-11

    Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular diagnosis. Previous studies have indicated high levels of genetic heterogeneity, with estimates of more than 2500 autosomal ID genes, the majority of which are autosomal recessive (AR). Here, we combined microarray genotyping, homozygosity-by-descent (HBD) mapping, copy number variation (CNV) analysis, and whole exome sequencing (WES) to identify disease genes/mutations in 192 multiplex Pakistani and Iranian consanguineous families with non-syndromic ID. We identified definite or candidate mutations (or CNVs) in 51% of families in 72 different genes, including 26 not previously reported for ARID. The new ARID genes include nine with loss-of-function mutations (ABI2, MAPK8, MPDZ, PIDD1, SLAIN1, TBC1D23, TRAPPC6B, UBA7 and USP44), and missense mutations include the first reports of variants in BDNF or TET1 associated with ID. The genes identified also showed overlap with de novo gene sets for other neuropsychiatric disorders. Transcriptional studies showed prominent expression in the prenatal brain. The high yield of AR mutations for ID indicated that this approach has excellent clinical potential and should inform clinical diagnostics, including clinical whole exome and genome sequencing, for populations in which consanguinity is common. As with other AR disorders, the relevance will also apply to outbred populations.Molecular Psychiatry advance online publication, 11 April 2017; doi:10.1038/mp.2017.60.

  7. Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.

    PubMed

    Aziz, Abdul; Raza, Syed I; Ali, Salman; Ahmad, Wasim

    2016-01-01

    Ellis-van Creveld syndrome (EVC) is a rare developmental disorder characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, teeth, oral and cardiac abnormalities. It is caused by biallelic mutations in the EVC or EVC2 gene, separated by 2.6 kb of genomic sequence on chromosome 4p16. In the present study, we have investigated two consanguineous families of Pakistani origin, segregating EVC in autosomal recessive manner. Linkage in the families was established to chromosome 4p16. Subsequently, sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families. This further expands the mutations in the EVC or EVC2 genes resulting in the EVC syndrome.

  8. Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib

    PubMed Central

    Turan, Serap; Akin, Leyla; Akcay, Teoman; Adal, Erdal; Sarikaya, Sevil; Bastepe, Murat; Jüppner, Harald

    2010-01-01

    Hypocalcemia and hyperphosphatemia with low/normal parathyroid hormone (PTH) levels can be observed in hypoparathyroidism (HP), a disorder that may follow an autosomal dominant (AD) or autosomal recessive (AR) mode of inheritance. Similar biochemical changes are also observed in pseudohypoparathyroidism (PHP) type Ia and Ib, but affected patients usually show elevated PTH levels indicative of hormonal resistance. Features of Albright’s hereditary osteodystrophy (AHO) are typically not observed in patients affected by familial forms of PHP-Ib, which are most frequently caused by maternally inherited, heterozygous microdeletions within STX16 and are associated with isolated loss of methylation at GNAS exon A/B. We established the molecular defect in two children of consanguineous Turkish parents, who presented with hypocalcemia, hyperphosphatemia, and low 25-OH vitamin D levels, but initially normal or only mildly elevated PTH levels, i.e. findings that do not readily exclude HP. After normalizing serum magnesium levels, hypocalcemia and hyperphosphatemia persisted, and PTH levels increased, suggesting PTH-resistance rather than PTH-deficiency. Because of the absence of AHO and parental consanguinity, an AR form of PHP-Ib appeared plausible, which had previously been suggested for sporadic cases. However, loss of GNAS methylation was restricted to exon A/B, which led to the identification of the 3-kb STX16 microdeletion. The same mutation was also detected in the healthy mother, who did not show any GNAS methylation abnormality, indicating that her deletion resides on the paternal allele. Our findings emphasize the importance of considering a parentally imprinted, autosomal dominant disorder even if consanguinity suggests an autosomal recessive mode of inheritance. PMID:20538864

  9. Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family.

    PubMed

    Chograni, M; Alkuraya, F S; Ourteni, I; Maazoul, F; Lariani, I; Chaabouni, H B

    2015-09-01

    The aim of this study is to investigate the genetic basis of autosomal recessive congenital cataract and intellectual disability phenotype in a consanguineous Tunisian family. The whole genome scan of the studied family was performed with single nucleotide polymorphisms (SNPs). The resulted runs of homozygosity (ROH) were analyzed through the integrated Systems Tool for Eye gene discovery (iSyTE) in order to prioritize candidate genes associated with congenital cataract. Selected genes were amplified and sequenced. Bioinformatic analysis was conducted to predict the function of the mutant gene. We identified a new specific lens gene named syntaxin 3 linked to the studied phenotype. The direct sequencing of this gene revealed a novel missense mutation c.122A>G which results in p.E41G. Bioinformatic analysis suggested a deleterious effect of this mutation on protein structure and function. Here, we report for the first time a missense mutation of a novel lens specific gene STX3 in a phenotype associating autosomal recessive congenital cataract and intellectual disability.

  10. Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families.

    PubMed

    Aziz, Abdul; Irfanullah; Khan, Saadullah; Zimri, Faridullah Khan; Muhammad, Noor; Rashid, Sajid; Ahmad, Wasim

    2014-01-25

    Split-hand/split-foot malformation (SHFM), representing variable degree of median clefts of hands and feet, is a genetically heterogeneous group of limb malformations with seven loci mapped on different human chromosomes. However, only 3 genes (TP63, WNT10B, DLX5) for the seven loci have been identified. The study, presented here, described three consanguineous Pakistani families segregating SHFM in autosomal recessive manner. Linkage in the families was searched by genotyping microsatellite markers and mutation screening of candidate gene was performed by Sanger DNA sequencing. Clinical features of affected members of these families exhibited SHFM phenotype with involvement of hands and feet. Genotyping using microsatellite markers mapped the families to WNT10B gene at SHFM6 on chromosome 12q13.11-q13. Subsequently, sequence analysis of WNT10B gene revealed a novel 4-bp deletion mutation (c.1165_1168delAAGT) in one family and 7-bp duplication (c.300_306dupAGGGCGG) in two other families. Structure-based analysis showed a significant conformational shift in the active binding site of mutated WNT10B (p.Lys388Glufs*36), influencing binding with Fzd8. The mutations identified in the WNT10B gene extend the body of evidence implicating it in the pathogenesis of SHFM.

  11. Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study

    PubMed Central

    2010-01-01

    Background The offspring of consanguineous relations have an increased risk of congenital/genetic disorders and early mortality. Consanguineous couples and their offspring account for approximately 10% of the global population. The increased risk for congenital/genetic disorders is most marked for autosomal recessive disorders and depends on the degree of relatedness of the parents. For children of first cousins the increased risk is 2-4%. For individual couples, however, the extra risk can vary from zero to 25% or higher, with only a minority of these couples having an increased risk of at least 25%. It is currently not possible to differentiate between high-and low-risk couples. The quantity of DNA identical-by-descent between couples with the same degree of relatedness shows a remarkable variation. Here we hypothesize that consanguineous partners with children affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related partners who have only healthy children. The aim of the study is thus to establish whether the amount of DNA identical-by-descent in consanguineous parents of children with an autosomal recessive disease is indeed different from its proportion in consanguineous parents who have healthy children only. Methods/Design This project is designed as a case-control study. Cases are defined as consanguineous couples with one or more children with an autosomal recessive disorder and controls as consanguineous couples with at least three healthy children and no affected child. We aim to include 100 case couples and 100 control couples. Control couples are matched by restricting the search to the same family, clan or ethnic origin as the case couple. Genome-wide SNP arrays will be used to test our hypothesis. Discussion This study contains a new approach to risk assessment in consanguineous couples. There is no previous study on the amount of DNA identical-by-descent in consanguineous parents of affected children

  12. [Consanguinity and congenital abnormalities].

    PubMed

    Søgaard, Marie; Vedsted-Jakobsen, Agnete

    2003-04-28

    Knowledge of consanguinity is relevant for employees in the Danish national health service, since about 7.5% of the Danish population has another ethnic background than Danish and the majority comes from cultures where consanguineous marriages are not unusual. In the literature it is found that consanguineous couples have a higher risk of having children with congenital malformations. The risk is increased by a factor 2 to 2 1/2. The average risk in Denmark is about 3%. Primarily, the autosomal recessive diseases are expressed in children with consanguineous parents. In order to advise and diagnose it is essential to clarify the consanguinity state. In case of pregnancy with consanguineous parents, we recommend: 1) Counselling to estimate the risk of foetal illness and information about possible examination possibilities. 2) An ultrasound scan at the gestational age of 11-14 weeks in order to measure nuchal translucency and an early malformation scan. 3) An ultrasound scan for malformations at the gestational age of 18-20 weeks. 4) An ultrasound scan especially in order to detect foetal heart malformations at the gestational age of 20-24 weeks.

  13. Consanguinity and reproductive health among Arabs

    PubMed Central

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

    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 first cousin marriages which may reach 25-30% of all marriages. In some countries like Qatar, Yemen, and UAE, consanguinity rates are increasing in the current generation. Research among Arabs and worldwide has indicated that consanguinity could have an effect on some reproductive health parameters such as postnatal mortality and rates of congenital malformations. The association of consanguinity with other reproductive health parameters, such as fertility and fetal wastage, is controversial. The main impact of consanguinity, however, is an increase in the rate of homozygotes for autosomal recessive genetic disorders. Worldwide, known dominant disorders are more numerous than known recessive disorders. However, data on genetic disorders in Arab populations as extracted from the Catalogue of Transmission Genetics in Arabs (CTGA) database indicate a relative abundance of recessive disorders in the region that is clearly associated with the practice of consanguinity. PMID:19811666

  14. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.

    PubMed

    Kakar, Naseebullah; Ahmad, Jamil; Morris-Rosendahl, Deborah J; Altmüller, Janine; Friedrich, Katrin; Barbi, Gotthold; Nürnberg, Peter; Kubisch, Christian; Dobyns, William B; Borck, Guntram

    2015-01-01

    Holoprosencephaly is a clinically and genetically heterogeneous midline brain malformation associated with neurologic manifestations including developmental delay, intellectual disability and seizures. Although mutations in the sonic hedgehog gene SHH and more than 10 other genes are known to cause holoprosencephaly, many patients remain without a molecular diagnosis. Here we show that a homozygous truncating mutation of STIL not only causes severe autosomal recessive microcephaly, but also lobar holoprosencephaly in an extended consanguineous Pakistani family. STIL mutations have previously been linked to centrosomal defects in primary microcephaly at the MCPH7 locus. Our results thus expand the clinical phenotypes associated with biallellic STIL mutations to include holoprosencephaly.

  15. Autozygosity mapping of autosomal recessive non-syndromic sensorineural hearing loss (ARNSSNHL)

    SciTech Connect

    Brown, K.A.; Nobel, A.; Markham, A.F.

    1994-09-01

    Congenital deafness affects about 1 in 2000 persons and is of genetic origin in approximately half these cases. The majority of congenital deafness is non-syndromic and over 75% of cases are compatible with autosomal recessive inheritance. Mapping of the loci responsible for ARNSSNHL will be complicated by genetic heterogeneity. Our approach to isolating genes involved in ARNSSNHL is by autozygosity mapping which involves the genetic analysis of children resulting from consanguineous marriages with the aim of identifying regions of homozygosity unique to the genomes of affected individuals which have been inherited from a common ancestor. The population employed in this study is the Pakistani community of Leeds, Bradford and Manchester in the UK which originated from the Mirpur region of Pakistan. Microsatellite analysis of the genome with markers spaced, on average, 10 cM apart is in progress and the investigation of 15 consanguineous families has identified one family which shows linkage to human chromosome 13q. This family appears to be linked to the same autosomal recessive deafness locus as two Tunisian families recently described and confirms that this chromosome 13q locus is also responsible, although as a minor contributor, to the deafness observed in the Pakistani population.

  16. Consanguinity and deafness in Omani children.

    PubMed

    Khabori, Mazin Al; Patton, Michael A

    2008-01-01

    This study was based on a national retrospective analysis of 1400 questionnaires on the causes of deafness in Omani children, collected from 1986 to 2000. It was found that 70% of the deaf children were from parents of consanguineous marriages, and 30% from non-consanguineous unions. In those with consanguineous families 70.16% were first cousin marriages, 17.54% were second cousins, and 10.86% were from the same tribe. The proportion arising from first cousin marriages was higher than the background rate of first cousin marriages in Oman. In the total cohort, 45% had other family members with hearing loss. There was a greater chance of other relatives being affected in the consanguineous group as opposed to the non-consanguineous group (29.7% versus 15.3%). In most cases the affected relative was a deaf sibling (67.8%). We have demonstrated a higher rate of consanguinity amongst parents of deaf children in Oman and suggest this is associated with a higher frequency of autosomal recessive deafness in this paediatric population.

  17. Association studies in consanguineous populations

    SciTech Connect

    Genin, E.; Clerget-Darpous, F.

    1996-04-01

    To study the genetic determinism of multifactorial diseases in large panmictic populations, a strategy consists in looking for an association with markers closely linked to candidate genes. A distribution of marker genotypes different in patients and controls may indicate that the candidate gene is involved in the disease. In panmictic populations, the power to detect the role of a candidate gene depends on the gametic disequilibrium with the marker locus. In consanguineous populations, we show that it depends on the inbreeding coefficient F as well. Inbreeding increases the power to detect the role of a recessive or quasi-recessive disease-susceptibility factor. The gain in power turns out to be greater for small values of the gametic disequilibrium. Moreover, even in the absence of gametic disequilibrium, the presence of inbreeding may allow to detect the role of a recessive factor. Ignoring inbreeding when it exists may lead to reject falsely a recessive model if the mode of inheritance is inferred on the distribution of genotypes among patients. 5 refs., 6 figs., 1 tab.

  18. Consanguinity, human evolution, and complex diseases

    PubMed Central

    Bittles, A. H.; Black, M. L.

    2010-01-01

    There is little information on inbreeding during the critical early years of human existence. However, given the small founding group sizes and restricted mate choices it seems inevitable that intrafamilial reproduction occurred and the resultant levels of inbreeding would have been substantial. Currently, couples related as second cousins or closer (F ≥ 0.0156) and their progeny account for an estimated 10.4% of the global population. The highest rates of consanguineous marriage occur in north and sub-Saharan Africa, the Middle East, and west, central, and south Asia. In these regions even couples who regard themselves as unrelated may exhibit high levels of homozygosity, because marriage within clan, tribe, caste, or biraderi boundaries has been a long-established tradition. Mortality in first-cousin progeny is ≈3.5% higher than in nonconsanguineous offspring, although demographic, social, and economic factors can significantly influence the outcome. Improving socioeconomic conditions and better access to health care will impact the effects of consanguinity, with a shift from infant and childhood mortality to extended morbidity. At the same time, a range of primarily social factors, including urbanization, improved female education, and smaller family sizes indicate that the global prevalence of consanguineous unions will decline. This shift in marriage patterns will initially result in decreased homozygosity, accompanied by a reduction in the expression of recessive single-gene disorders. Although the roles of common and rare gene variants in the etiology of complex disease remain contentious, it would be expected that declining consanguinity would also be reflected in reduced prevalence of complex diseases, especially in population isolates. PMID:19805052

  19. First steps in exploring prospective exome sequencing of consanguineous couples.

    PubMed

    Teeuw, Marieke; Waisfisz, Quinten; Zwijnenburg, Petra J G; Sistermans, Erik A; Weiss, Marjan M; Henneman, Lidewij; ten Kate, Leo P; Cornel, Martina C; Meijers-Heijboer, Hanne

    2014-01-01

    Consanguinity is one of the most frequent risk factors for congenital disorders. In theory, prospective exome sequencing of consanguineous couples could identify couples who both are carriers of autosomal recessive diseases, and empower such couples to make informed reproductive decisions. To investigate this, we sent blood samples to our laboratory of four pairs of consanguineous parents having one or more children affected by an autosomal recessive disorder, without revealing any diagnostic information. The study was restricted to find identical, previously described, or evidently pathogenic mutations in both parents of each couple, in over 400 genes known to result in severe autosomal recessive disorders. Out of the six autosomal recessive disorders known to the four couples studied, two were correctly identified. Carrier status of one not previously known autosomal recessive disorder was discovered. As expected, given the pipeline used, large deletions, mutations in genes not present in the gene list, mutations outside the exons and consensus splice sites, and mutations that were not evidently pathogenic and previously not reported, were not identified. The restriction to detecting only couples with identical mutations diminishes the risk of revealing unsolicited findings and shortens the time needed for analysis, but also results in missing couples with different mutations in the same gene. In addition to the proposed pipeline, couples should be offered testing for carrier status of frequent disorders that can present themselves by large deletions, non-exonic mutations or compound heterozygous mutations (e.g. thalassemia, spinal muscular atrophy, cystic fibrosis). Even though sensitivity is reduced, offering exome sequencing prospectively will increase reproductive options for consanguineous couples.

  20. Compound heterozygosity for three common MEFV mutations in a highly consanguineous family with familial Mediterranean fever.

    PubMed

    Seidel, H; Steinlein, O K

    2008-07-01

    Consanguinity is not the only factor influencing the occurrence of autosomal recessive disorders such as familial Mediterranean fever (FMF). The extended, multiple consanguineous Turkish pedigree presented here demonstrates that the population frequency of certain mutations (so-called "ancient" mutations) can be at least equally important. In high-risk populations different combinations of mutations can occur within the same family, increasing not only the intrafamilial clinical variability, but also causing considerable recurrence risks even in marriages with unrelated spouses.

  1. Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

    PubMed Central

    Santos-Cortez, Regie Lyn P.; Faridi, Rabia; Rehman, Atteeq U.; Lee, Kwanghyuk; Ansar, Muhammad; Wang, Xin; Morell, Robert J.; Isaacson, Rivka; Belyantseva, Inna A.; Dai, Hang; Acharya, Anushree; Qaiser, Tanveer A.; Muhammad, Dost; Ali, Rana Amjad; Shams, Sulaiman; Hassan, Muhammad Jawad; Shahzad, Shaheen; Raza, Syed Irfan; Bashir, Zil-e-Huma; Smith, Joshua D.; Nickerson, Deborah A.; Bamshad, Michael J.; Riazuddin, Sheikh; Ahmad, Wasim; Friedman, Thomas B.; Leal, Suzanne M.

    2016-01-01

    The sphingosine-1-phosphate receptors (S1PRs) are a well-studied class of transmembrane G protein-coupled sphingolipid receptors that mediate multiple cellular processes. However, S1PRs have not been previously reported to be involved in the genetic etiology of human traits. S1PR2 lies within the autosomal-recessive nonsyndromic hearing impairment (ARNSHI) locus DFNB68 on 19p13.2. From exome sequence data we identified two pathogenic S1PR2 variants, c.323G>C (p.Arg108Pro) and c.419A>G (p.Tyr140Cys). Each of these variants co-segregates with congenital profound hearing impairment in consanguineous Pakistani families with maximum LOD scores of 6.4 for family DEM4154 and 3.3 for family PKDF1400. Neither S1PR2 missense variant was reported among ∼120,000 chromosomes in the Exome Aggregation Consortium database, in 76 unrelated Pakistani exomes, or in 720 Pakistani control chromosomes. Both DNA variants affect highly conserved residues of S1PR2 and are predicted to be damaging by multiple bioinformatics tools. Molecular modeling predicts that these variants affect binding of sphingosine-1-phosphate (p.Arg108Pro) and G protein docking (p.Tyr140Cys). In the previously reported S1pr2−/− mice, stria vascularis abnormalities, organ of Corti degeneration, and profound hearing loss were observed. Additionally, hair cell defects were seen in both knockout mice and morphant zebrafish. Family PKDF1400 presents with ARNSHI, which is consistent with the lack of gross malformations in S1pr2−/− mice, whereas family DEM4154 has lower limb malformations in addition to hearing loss. Our findings suggest the possibility of developing therapies against hair cell damage (e.g., from ototoxic drugs) through targeted stimulation of S1PR2. PMID:26805784

  2. [Scattered papules in three Togolese children from a consanguineous marrige: epidermodysplasia verruciformis].

    PubMed

    Saka, B; Mouhari-Touré, A; Kombaté, K; Pitché, P; Tchangaï-Walla, K

    2009-06-01

    Epidermodysplasia verruciformis (EV) is a rare condition characterized by diffuse flat wart-like lesions. It is an autosomal recessive genodermatosis associated with susceptibility to infection by specific human papillomavirus genotypes and a high risk of skin cancer. In this report we describe three cases of EV after a consanguineous marriage in a family with no history of EV.

  3. Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

    PubMed

    El-Sayed, Walid; Parry, David A; Shore, Roger C; Ahmed, Mushtaq; Jafri, Hussain; Rashid, Yasmin; Al-Bahlani, Suhaila; Al Harasi, Sharifa; Kirkham, Jennifer; Inglehearn, Chris F; Mighell, Alan J

    2009-11-01

    Healthy dental enamel is the hardest and most highly mineralized human tissue. Though acellular, nonvital, and without capacity for turnover or repair, it can nevertheless last a lifetime. Amelogenesis imperfecta (AI) is a collective term for failure of normal enamel development, covering diverse clinical phenotypes that typically show Mendelian inheritance patterns. One subset, known as hypomaturation AI, is characterised by near-normal volumes of organic enamel matrix but with weak, creamy-brown opaque enamel that fails prematurely after tooth eruption. Mutations in genes critical to enamel matrix formation have been documented, but current understanding of other key events in enamel biomineralization is limited. We investigated autosomal-recessive hypomaturation AI in a consanguineous Pakistani family. A whole-genome SNP autozygosity screen identified a locus on chromosome 15q21.3. Sequencing candidate genes revealed a point mutation in the poorly characterized WDR72 gene. Screening of WDR72 in a panel of nine additional hypomaturation AI families revealed the same mutation in a second, apparently unrelated, Pakistani family and two further nonsense mutations in Omani families. Immunohistochemistry confirmed intracellular localization in maturation-stage ameloblasts. WDR72 function is unknown, but as a putative beta propeller is expected to be a scaffold for protein-protein interactions. The nearest homolog, WDR7, is involved in vesicle mobilization and Ca2+-dependent exocytosis at synapses. Vesicle trafficking is important in maturation-stage ameloblasts with respect to secretion into immature enamel and removal of cleaved enamel matrix proteins via endocytosis. This raises the intriguing possibility that WDR72 is critical to ameloblast vesicle turnover during enamel maturation.

  4. Bleeding disorders in the tribe: result of consanguineous in breeding

    PubMed Central

    2010-01-01

    Objective To determine the frequency and clinical features of bleeding disorders in the tribe as a result of consanguineous marriages. Design Cross Sectional Study Introduction Countries in which consanguinity is a normal practice, these rare autosomal recessive disorders run in close families and tribes. Here we describe a family, living in village Ali Murad Chandio, District Badin, labeled as haemophilia. Patients & Methods Our team visited the village & developed the pedigree of the whole extended family, up to seven generations. Performa was filled by incorporating patients, family history of bleeding, signs & symptoms, and bleeding from any site. From them 144 individuals were screened with CBC, bleeding time, platelet aggregation studies & RiCoF. While for PT, APTT, VWF assay and Factor VIII assay, samples were kept frozen at -70 degrees C until tested. Results The family tree of the seven generations comprises of 533 individuals, 63 subjects died over a period of 20 years and 470 were alive. Out of all those 144 subjects were selected on the basis of the bleeding history. Among them 98(68.1%) were diagnosed to have a bleeding disorder; 44.9% patients were male and 55.1% patients were female. Median age of all the patients was 20.81, range (4 months- 80 yrs). The results of bleeding have shown that majority had gum bleeding, epistaxis and menorrhagia. Most common bleeding disorder was Von Willebrand disease and Platelet functional disorders. Conclusion Consanguineous marriages keep all the beneficial and adversely affecting recessive genes within the family; in homozygous states. These genes express themselves and result in life threatening diseases. Awareness, education & genetic counseling will be needed to prevent the spread of such common occurrence of these bleeding disorders in the community. PMID:20822539

  5. A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

    PubMed Central

    Ansar, Muhammad; Raza, Syed Irfan; Lee, Kwanghyuk; Irfanullah; Shahi, Shamim; Acharya, Anushree; Dai, Hang; Smith, Joshua D; Shendure, Jay; Bamshad, Michael J; Nickerson, Deborah A; Santos-Cortez, Regie Lyn P; Ahmad, Wasim; Leal, Suzanne M

    2016-01-01

    Background Woolly hair (WH) is a hair abnormality that is primarily characterised by tightly curled hair with abnormal growth. Methods In two unrelated consanguineous Pakistani families with non-syndromic autosomal recessive (AR) WH, homozygosity mapping and linkage analysis identified a locus within 17q21.1–q22, which contains the type I keratin gene cluster. A DNA sample from an affected individual from each family underwent exome sequencing. Results A homozygous missense variant c.950T>C (p.(Leu317Pro)) within KRT25 segregated with ARWH in both families, and has a combined maximum two-point LOD score of 7.9 at ϴ=0. The KRT25 variant is predicted to result in disruption of the second α-helical rod domain and the entire protein structure, thus possibly interfering with heterodimerisation of K25 with type II keratins within the inner root sheath (IRS) of the hair follicle and the medulla of the hair shaft. Conclusions Our findings implicate a novel gene involved in human hair abnormality, and are consistent with the curled, fragile hair found in mice with Krt25 mutations, and further support the role of IRS-specific type I keratins in hair follicle development and maintenance of hair texture. PMID:26160856

  6. Frequency of consanguineous marriages among parents and grandparents of Down patients.

    PubMed

    Devoto, M; Prosperi, L; Bricarelli, F D; Coviello, D A; Croci, G; Zelante, L; Ferranti, G; Tenconi, R; Stomeo, C; Romeo, G

    1985-01-01

    The existence of a rare autosomal gene which in the homozygous state would cause mitotic nondisjunction in the Down zygote has been hypothesized in the past by Alfi et al. (1980). This hypothesis can be supported or contradicted by the study of the frequency of consanguineous marriages among parents of affected children. Our study on 242 children affected with Down syndrome does not show any increase in the frequency of consanguineous marriages among their parents with respect to the general population, and therefore does not support the hypothesis of an autosomal gene controlling mitotic nondisjunction. Our data do not show any increase in the frequency of consanguineous marriages even among paternal and maternal grandparents of the affected children, thus not supporting the other possible explanation of an autosomal recessive condition in one of the patient's parents which would cause meiotic nondisjunction.

  7. Organ donation consanguinity or universality.

    PubMed

    Kishore, R R

    1996-01-01

    1. Neither the "Diseased Persons" nor the "Genetic Relations" provide an answer to "trading" in human body parts. 2. Live human body constitutes a vital source of supply of organs and tissues and the possibilities of optimum utilisation should be explored. 3. There is no scope for dogmatic postures and open-mindedness should be the approach while dealing with the issue of Organ Transplantation. 4. Society owes a duty to save the file of a dying man and in the event of failure to do so, it is absolutely immoral to interfere with his own arrangements by making unrealistic laws. No immorality is involved if an individual disposes of his spare body parts for a valid consideration to a needy person. 5. The scarcity needs to be urgently overcome otherwise unwarranted trade and crime are liable to thrive. 6. Families are not unconnected or antagonistic fragments of humanity. After thousands of years of continuous efforts the individuals on this earth have attained the stage of organic and functional integration. Atomisation of society on the basis of consanguineous proximities amounts to reversing this holistic trend. Organ transplantation is a functional expression of a highly evolved pursuit with inherent and intimate interaction in the form of organic exchange at the individual level, independent of consanguineous inducements or motivations. As such there is absolutely no scope for restricting organ donations by strangers. 7. Commercialisation should be curbed by making the enforcement agencies more efficient and not by depriving a needy person of his genuine requirements. Legislative craftsmanship lies in providing an answer without curtailing the freedom of the people.

  8. Congenital vocal cord paralysis with possible autosomal recessive inheritance: Case report and review of the literature

    SciTech Connect

    Koppel, R.; Friedman, S.; Fallet, S.

    1996-08-23

    We describe an infant with congenital vocal cord paralysis born to consanguineous parents. While autosomal dominant and X-linked inheritance have been previously reported in this condition, we conclude that the degree of parental consanguinity in this case strongly suggests autosomal recessive inheritance. Although we cannot exclude X-linked inheritance, evidence from animal studies demonstrates autosomal recessive inheritance and provides a possible molecular basis for congenital vocal cord paralysis. 14 refs., 1 fig.

  9. Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western society

    PubMed Central

    Teeuw, Marieke E; Loukili, Ghariba; Bartels, Edien AC; ten Kate, Leo P; Cornel, Martina C; Henneman, Lidewij

    2014-01-01

    Consanguineous couples should be adequately informed about their increased reproductive risk and possibilities for genetic counselling. Information may only be effective if it meets the needs of the target group. This study aimed to gain more insight into: (1) attitudes of people belonging to ethnic groups in Western society towards consanguinity and their understanding of risk for offspring; and (2) their attitudes regarding reproductive information targeted at consanguineous couples. Dutch Moroccans and Turks were invited to complete an online questionnaire by snowball sampling and by placing a link on two popular Dutch Moroccan/Turkish forum websites between September and October 2011. The questionnaire was completed by 201 individuals who were, on average, neither positive nor negative towards consanguinity. Respondents with a consanguineous partner were more positive, estimated the risk for the offspring lower and were less positive about the provision of risk information to consanguineous couples when compared with respondents without a consanguineous partner. Participants of Turkish origin had a more negative attitude towards consanguinity and estimated the reproductive risk higher than Moroccan participants. More than half of the respondents thought that information should be given before marriage, whereas only 10% thought it should never be provided. The general practitioner was most often mentioned (54%) as the designated professional to inform people. Information about genetic risks related to consanguinity should be offered early, preferably before marriage. The diversity of the target population requires various strategies to disseminate information and reach consanguineous couples with the offer of genetic counselling. PMID:23921534

  10. Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western society.

    PubMed

    Teeuw, Marieke E; Loukili, Ghariba; Bartels, Edien Ac; ten Kate, Leo P; Cornel, Martina C; Henneman, Lidewij

    2014-04-01

    Consanguineous couples should be adequately informed about their increased reproductive risk and possibilities for genetic counselling. Information may only be effective if it meets the needs of the target group. This study aimed to gain more insight into: (1) attitudes of people belonging to ethnic groups in Western society towards consanguinity and their understanding of risk for offspring; and (2) their attitudes regarding reproductive information targeted at consanguineous couples. Dutch Moroccans and Turks were invited to complete an online questionnaire by snowball sampling and by placing a link on two popular Dutch Moroccan/Turkish forum websites between September and October 2011. The questionnaire was completed by 201 individuals who were, on average, neither positive nor negative towards consanguinity. Respondents with a consanguineous partner were more positive, estimated the risk for the offspring lower and were less positive about the provision of risk information to consanguineous couples when compared with respondents without a consanguineous partner. Participants of Turkish origin had a more negative attitude towards consanguinity and estimated the reproductive risk higher than Moroccan participants. More than half of the respondents thought that information should be given before marriage, whereas only 10% thought it should never be provided. The general practitioner was most often mentioned (54%) as the designated professional to inform people. Information about genetic risks related to consanguinity should be offered early, preferably before marriage. The diversity of the target population requires various strategies to disseminate information and reach consanguineous couples with the offer of genetic counselling.

  11. A community genetics perspective on consanguineous marriage.

    PubMed

    Bittles, A H

    2008-01-01

    Consanguineous marriage has long been a controversial topic, with particular attention focused on adverse health outcomes. Unfortunately, the studies that have been conducted on consanguinity to date have usually lacked control for important sociodemographic variables, such as maternal age and birth intervals, and in estimating specific disease gene frequency, they have ignored the influence of population sub-division. Inadequate attention has also been paid to the social benefits associated with intra-familial marriage, resulting in a biased overall cost-benefit assessment. Worldwide, some 1,000 million people live in countries where 20 to more than 50% of marriages are consanguineous, and large migrant communities from these regions are now resident in Western Europe, North America and Oceania. The need for comprehensive and more balanced investigations into all aspects of consanguineous marriage is pressing and merits a substantial international collaborative research effort.

  12. Consanguinity Among Parents of Iranian Deaf Children

    PubMed Central

    Ajallouyan, Mohammad; Radfar, Shokofeh; Nouhi, Sima; Tavallaie, Seid Abbas; Amirsalari, Susan; Yousefi, Jaleh; Hasanali Fard, Mahdieh

    2016-01-01

    Background It seems that there is a relationship between consanguinity and profound hearing loss but there is little data about the association of consanguinity and hearing loss in Iran. Objectives The aim of this study is to demonstrate the causes of profound bilateral sensorineural hearing loss among Iranian samples who are candidates for cochlear implantation. Methods This study was retrospective, analytical, and designed to collect information about profound hearing impaired cases referred to the Baqiyatallah Cochlear implantation center using enumeration. A total of 310 children with profound hearing impairments participated in this study. They were aged from 6 months to 4 years old. The study was done between January 2007 and April 2009. Chi-square tests were used to show whether there was any statistical difference between the incidence of marital consanguinity of their parents and the normal population. Results Sixty-five percent of those 310 children had parents who had married with their relatives. Of the 203 (65%) parents that had consanguineous marriages, 132 were first cousins, which includes the children of two brothers (37 [11.8%] patrilateral parallel cousins), the children of two sisters (38 [12.2%] multi-lateral parallel cousins), or the children of a brother and a sister (57 [18.3%] cross cousins). Fifty-four (17.4%) of the parents were second cousins and 17 (5.2%) were beyond second cousins. Also, hearing loss etiology was obvious in 237 (76.3%) of the patients with profound hearing loss but was unknown in 73 (23.7%). Hereditary was identified as the most common cause in 33% of the cases. Conclusions Our data demonstrated a 65% occurrence of consanguineous marriage among the parents of deaf children, which is statistically different from the percentage of consanguineous marriage among Iranian population (38%). This indicates an obvious relationship between severe hearing loss and consanguineous marriage. PMID:28191326

  13. Autosomal recessive

    MedlinePlus

    ... and the other gene comes from the father. Recessive inheritance means both genes in a pair must be abnormal to cause ... born to parents who carry the same autosomal recessive change ... abnormal gene from both parents and developing the disease. You ...

  14. Consanguinity and disorders of sex development.

    PubMed

    Bashamboo, Anu; McElreavey, Ken

    2014-01-01

    Disorders of sex development (DSD) are defined as 'congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical' [Lee et al., Pediatrics 2006;118:e488-e500]. Studies conducted in Western countries, with low rates of consanguinity, show that truly ambiguous genitalia have an estimated incidence of 1:5,000 births. There are indications that the prevalence of DSD is higher in endogamous communities. The incidence of ambiguous genitalia in Saudi Arabia has been estimated at 1:2,500 live births; whilst in Egypt, it has been estimated at 1:3,000 live births. This may be due in part to an increase in disorders of androgen synthesis associated with 46,XX DSD. There is clearly a need for further studies to address the frequency of DSD in communities with high levels of consanguinity. This will be challenging, as an accurate diagnosis is difficult and expensive even in specialized centres. In developing countries with high levels of consanguinity, these limitations can be compounded by cultural, social and religious factors. Overall there is an indication that consanguinity may lead to an increase in incidences of both 46,XY and 46,XX DSD, and a co-ordinated study of populations with higher incidences of consanguinity/endogamy is needed to resolve this.

  15. Effect of consanguinity on birth weight for gestational age in a developing country.

    PubMed

    Mumtaz, Ghina; Tamim, Hala; Kanaan, Mona; Khawaja, Marwan; Khogali, Mustafa; Wakim, Gerard; Yunis, Khalid A

    2007-04-01

    Consanguinity, the marriage between relatives, has been associated with adverse child health outcomes because it increases homozygosity of recessive alleles. The objective of this study was to assess the effect of consanguinity on the birth weight of newborns in Greater Beirut, Lebanon. Cross-sectional data were collected on 10,289 consecutive liveborn singleton newborns admitted to eight hospitals belonging to the National Collaborative Perinatal Neonatal Network during the years 2000 and 2001. Birth weight was modeled by use of the fetal growth ratio, defined as the ratio of the observed birth weight to the median birth weight for gestational age. A mixed-effect multiple linear regression model was used to predict the net effect of first- and second-cousin marriage on the birth weight for gestational age, accounting for within-hospital clustering of data. After controlling for medical and sociodemographic covariates, the authors found a statistically significant negative association between consanguinity and birth weight at each gestational age. No significant difference was observed in the decrease in birth weight between the first- and second-cousin marriages. Overall, consanguinity was associated with a decrease in birth weight for gestational age by 1.8% (beta = -0.018, 95% confidence interval: -0.027, -0.008). The largest effects on fetal growth were seen with lower parity and smoking during pregnancy.

  16. Consanguinity and genetic diseases in North Africa and immigrants to Europe.

    PubMed

    Anwar, Wagida A; Khyatti, Meriem; Hemminki, Kari

    2014-08-01

    Endemic diseases are caused by environmental and genetic factors. While in this special issue several chapters deal with environmental factors, including infections, the present focus is on genetic causes of disease clustering due to inbreeding and recessive disease mechanisms. Consanguinity is implying sharing of genetic heritage because of marriage between close relatives originating from a common ancestor. With limited natural selection, recessive genes may become more frequent in an inbred compared with an outbred population. Consanguinity is common in North Africa (NA), and the estimates range from 40 to 49% of all marriages in Tunisia and 29-33% in Morocco. As a consequence, recessive disorders are common in the NA region, and we give some examples. Thalassaemia and sickle cell disease/anaemia constitute the most common inherited recessive disorders globally and they are common in NA, but with immigration they have spread to Europe and to other parts of the world. Another example is familial Mediterranean fever, which is common in the Eastern Mediterranean area. With immigrantion from that area to Sweden, it has become the most common hereditary autoinflammatory disease in that country, and there is no evidence that any native Swede would have been diagnosed with this disease. The examples discussed in this chapter show that the historic movement of populations and current immigration are influencing the concept of 'endemic' disease.

  17. The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

    PubMed

    Yan, Denise; Kannan-Sundhari, Abhiraami; Vishwanath, Subramanian; Qing, Jie; Mittal, Rahul; Kameswaran, Mohan; Liu, Xue Zhong

    2015-09-01

    Deafness encompasses a series of etiologically heterogeneous disorders with mutations in more than 400 independent genes. However, several studies indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in the racially diverse Indian and Pakistani populations are caused by defects in just a few genes. In these countries, there is a strong cultural preference for consanguineous marriage and an associated relatively high prevalence of genetic disorders. The current Indian population is approximately 1.2 billion and it is estimated that 30,000 infants are born with congenital sensorineural hearing loss (HL) each year. The estimated rate of profound bilateral HL is 1.6 per 1000 in Pakistan and 70% of this HL arises in consanguineous families. Knowledge of the genetic cause of deafness within a distinct population is important for accurate genetic counseling and early diagnosis for timely intervention and treatment options. Many sources and technologies are now available for the testing of hearing efficiency. Population-based screening has been proposed as one of the major strategies for translating genetic and genomic advances into population health gains. This review of the genetics of deafness in Indian and Pakistani populations deals with the major causes of deafness in these countries and prospectives for reducing the incidence of inherited deafness.

  18. The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations

    PubMed Central

    Yan, Denise; Kannan-Sundhari, Abhiraami; Vishwanath, Subramanian; Qing, Jie; Mittal, Rahul; Kameswaran, Mohan

    2015-01-01

    Deafness encompasses a series of etiologically heterogeneous disorders with mutations in more than 400 independent genes. However, several studies indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in the racially diverse Indian and Pakistani populations are caused by defects in just a few genes. In these countries, there is a strong cultural preference for consanguineous marriage and an associated relatively high prevalence of genetic disorders. The current Indian population is approximately 1.2 billion and it is estimated that 30,000 infants are born with congenital sensorineural hearing loss (HL) each year. The estimated rate of profound bilateral HL is 1.6 per 1000 in Pakistan and 70% of this HL arises in consanguineous families. Knowledge of the genetic cause of deafness within a distinct population is important for accurate genetic counseling and early diagnosis for timely intervention and treatment options. Many sources and technologies are now available for the testing of hearing efficiency. Population-based screening has been proposed as one of the major strategies for translating genetic and genomic advances into population health gains. This review of the genetics of deafness in Indian and Pakistani populations deals with the major causes of deafness in these countries and prospectives for reducing the incidence of inherited deafness. PMID:26186295

  19. Axial mesodermal dysplasia complex: a new case with parental consanguinity.

    PubMed

    Mota, C R; Azevedo, M; Rocha, G; Manuela, F; Coelho, R; Lima, M R

    2000-01-01

    A female is described with axial mesodermal dysplasia complex (AMDC) born to a consanguineous couple. This is thought to be the first description of a patient with AMDC born to consanguineous parents.

  20. Genomic runs of homozygosity record population history and consanguinity.

    PubMed

    Kirin, Mirna; McQuillan, Ruth; Franklin, Christopher S; Campbell, Harry; McKeigue, Paul M; Wilson, James F

    2010-11-15

    The human genome is characterised by many runs of homozygous genotypes, where identical haplotypes were inherited from each parent. The length of each run is determined partly by the number of generations since the common ancestor: offspring of cousin marriages have long runs of homozygosity (ROH), while the numerous shorter tracts relate to shared ancestry tens and hundreds of generations ago. Human populations have experienced a wide range of demographic histories and hold diverse cultural attitudes to consanguinity. In a global population dataset, genome-wide analysis of long and shorter ROH allows categorisation of the mainly indigenous populations sampled here into four major groups in which the majority of the population are inferred to have: (a) recent parental relatedness (south and west Asians); (b) shared parental ancestry arising hundreds to thousands of years ago through long term isolation and restricted effective population size (N(e)), but little recent inbreeding (Oceanians); (c) both ancient and recent parental relatedness (Native Americans); and (d) only the background level of shared ancestry relating to continental N(e) (predominantly urban Europeans and East Asians; lowest of all in sub-Saharan African agriculturalists), and the occasional cryptically inbred individual. Moreover, individuals can be positioned along axes representing this demographic historic space. Long runs of homozygosity are therefore a globally widespread and under-appreciated characteristic of our genomes, which record past consanguinity and population isolation and provide a distinctive record of the demographic history of an individual's ancestors. Individual ROH measures will also allow quantification of the disease risk arising from polygenic recessive effects.

  1. Attitude of Saudi Arabian adults towards consanguineous marriage

    PubMed Central

    Alharbi, Omar A.; Al-Shaia, Walaa A.; Al-Hamam, Abdulaziz A.; Al-Marzoug, Hala M.; Ahmed, Anwar E.; Bagha, Muhammed

    2015-01-01

    Background: Research on the attitudes of Saudi adults towards consanguinity is scarce. The study aimed to explore the attitudes towards consanguinity and its associations with socio-demographic characteristics in a sample of Saudi adults. Methods: A cross-sectional study was conducted using a self-administered questionnaire. A total of 386 outpatient waiting-area attendees at King Abdul-Aziz Medical City-Riyadh were included. Participants were asked about their socio-demographic characteristics, attitude towards consanguinity and the reasons behind this. Results: The positive attitude towards consanguinity among the study respondents was 48.1% with 95% confidence interval (42.91–53.33%). Social and traditional culture (59.9%) were found to be the predominant reasons for favoring consanguinity in Saudi Arabia. Evidence against a positive attitude towards consanguinity was noted in respondents who received medical information about consanguinity versus those who had not received medical information (42.3% vs. 57%, p-value = 0.008). According to the multivariate logistic model, the odds of a positive attitude towards consanguinity were 2 times higher for males (adjusted odds ratio [aOR]: 2.2; 95% CI: 1.147, 4.290) and 4.1 times higher in respondents in consanguineous marriages (aOR: 4.1; 95% CI: 2.350, 7.156). The odds of a positive attitude towards consanguinity were 50% less in respondents who received health information on consanguinity compared to those who had not received health information about consanguinity (aOR: 0.50; 95% CI: 0.253, 0.863). Conclusion: One in every two Saudi adults favors consanguinity however, Saudi men and women differ in their attitudes towards consanguinity. Receiving health information on consanguinity was associated with a negative attitude towards this practice. PMID:26835408

  2. The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23.

    PubMed

    Ali, G; Santos, R L P; John, P; Wambangco, M A L; Lee, K; Ahmad, W; Leal, Sm

    2006-05-01

    Autosomal recessive non-syndromic hearing impairment (ARNSHI) is the most common form of prelingual inherited hearing impairment (HI). Here is described the mapping of a novel ARNSHI locus in a consanguineous Pakistani family with profound congenital HI. Two-point and multipoint linkage analyses were performed for the genome scan and fine mapping markers. Haplotypes were constructed to determine the region of homozygosity. At theta = 0, the maximum two-point LOD score of 4.0 was obtained at marker AAC040. A maximum multipoint LOD score of 5.3 was derived at marker D12S320, with the three-unit support interval demarcated by D12S89 and D12S1042. The region of homozygosity is flanked by markers D12S358 and D12S1042, which corresponds to 22.4 cM according to the Rutgers combined linkage-physical map of the human genome and spans 15.0 Mb on the sequence-based physical map. A novel ARNSHI locus DFNB62 was mapped to chromosome 12p13.2-p11.23. DFNB62 represents the second ARNSHI locus to map to chromosome 12.

  3. Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.

    PubMed

    Rasool, Mahmood; Nawaz, Sadia; Azhar, Aysha; Wajid, Muhammad; Westermark, Per; Baig, Shahid M; Klar, Joakim; Dahl, Niklas

    2010-01-01

    Hair-nail ectodermal dysplasia (HNED; OMIM 602032) constitutes a rare subgroup of ectodermal dysplasias characterised by onychodystrophy, hypotrichosis and brittle hair. We identified a large consanguineous Pakistani family with four siblings affected by a congenital autosomal recessive form of the disease. Based on previous genetic findings in HNED we performed linkage analysis in the family using chromosome 12 markers. A genetic linkage analysis revealed a lod score of 2.92 ( = 0.0) at locus D12S368, indicating the disease gene to be located on chromosome 12. Candidate genes on chromosome 12, including the KRTHB5 gene and four additional keratin II genes, were sequenced in affected family members. Sequence analysis of the coding regions of keratin KRTHB5 gene, previously associated with a distinct clinical form of hair-nail dysplasia, revealed normal coding regions. Our study confirms linkage of a variant clinical form of hair-nail ectodermal dysplasia to chromosome 12 without any mutation in the coding sequences of the KRTHB5 gene. The results suggest this family to have either a non-coding mutation in the KRTHB5 gene, or a mutation in a yet unknown gene within the linked region on chromosome 12.

  4. Drivers of Cousin Marriage among British Pakistanis

    PubMed Central

    Shaw, Alison

    2014-01-01

    Background/Aim Why has the apparently high rate of cousin marriage among Bradford Pakistanis been sustained, 50 years since Pakistani migration to Britain began? Methods A review of the anthropological literature on Pakistani migration and settlement, British Pakistani marriage patterns and the phenomenon of transnational marriage. Results British Pakistanis are diverse in regional origins and social class characteristics, with many Bradford Pakistanis originating from the Mirpur district and northern Punjab. British Pakistani marriages often involve a partner from Pakistan who joins a spouse in the UK. Transnational marriage of first cousins offers relatives in Pakistan opportunities for a ‘better’ life in the West and are important for British Pakistanis for economic, social, cultural and emotional reasons. These processes are also differentially influenced by region of origin and class characteristics in Pakistan as well as by education, employment and locality in Britain. The pattern observed in Bradford may not be applicable nationally. Conclusion Further research examining marital decisions over several generations in families differing by social class, region of origin in Pakistan and locality in Britain is necessary to contextualise the findings from Bradford. PMID:25060267

  5. Recession Rebound

    ERIC Educational Resources Information Center

    Weinstein, Margery

    2011-01-01

    A return to normal after a crisis is a good thing. Who doesn't want back what once seemed lost? The problem is it usually isn't a simple task figuring out how to patch together a scaled-back training program. When the recession hit in fall 2008, trainers were asked to scale down programming and make do with fewer resources. With a recovery in full…

  6. Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness.

    PubMed

    Ben Arab, Saida; Masmoudi, Saber; Beltaief, Najeh; Hachicha, Slah; Ayadi, Hammadi

    2004-07-01

    Deafness is an important health problem in the Tunisian population, especially in isolates where the prevalence ranges from 2 to 8%. To evaluate the effect of inbred unions on deafness, a study was conducted on 5,020 individuals (160 are deaf) between 2000 and 2002 in the North of Tunisia. The coefficient of inbreeding for all individuals and the levels of inbreeding in ten districts were computed. The higher levels were obtained in the rural districts. Our study revealed that geographic isolation, social traditions, and parental involvement in mode selection all contribute to increase consanguinity in these regions. The mean inbreeding seems to be similar to those estimated in highly inbred isolates in the world. The relative risk of the 35delG mutation, the single most frequent allele for non-syndromic recessive deafness in Tunisia, was estimated from the observed inbreeding coefficient and found to be 10.76 (SD 7.74) for first-cousin marriages, which are the most common form of consanguineous marriage encountered. Our knowledge of the risk rate of deafness and our understanding of consanguinity is required for the prevention of genetic deafness in the Tunisian population.

  7. 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 (α) 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 (α) 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 < 0.001). Patients with non-accommodative acquired esotropia had the highest mean of inbreeding coefficient (α) (0.0288). It seems that recessive form of inheritance plays an important role in the etiology of comitant strabismus. Modified screening programs may be needed for earlier detection of strabismus in the offspring of consanguineous couples.

  8. Gastrocnemius recession.

    PubMed

    Anderson, John G; Bohay, Donald R; Eller, Erik B; Witt, Bryan L

    2014-12-01

    The Grand Rapids Arch Collapse classifications create a novel system for categorizing and correlating numerous common foot and ankle conditions related to a falling arch. The algorithm for treating these conditions is exceptionally replicable and has excellent outcomes. Gastrocnemius equinus diagnosis plays a crucial role in the pathology of arch collapse. A contracture of the gastrocnemius muscle is increasingly recognized as the cause of several foot and ankle conditions. The authors have expanded their indications for gastrocnemius recession to include arch pain without radiographic abnormality, calcaneus apophysitis, plantar fasciitis/fibromas, Achilles tendonosis, early-onset diabetic Charcot arthropathy, and neuropathic forefoot ulcers.

  9. Consanguinity trends and correlates in the Palestinian Territories.

    PubMed

    Assaf, Shireen; Khawaja, Marwan

    2009-01-01

    Secondary analysis of the trends and correlates of consanguinity in the Palestinian Territories was conducted using data from two separate surveys in 1995 and 2004. The analysis was conducted on ever-married women aged 15-54 who were asked about their relation to their husband in both surveys. A total of 16,197 women in 1995 and 4971 women in 2004 were successfully interviewed. Consanguinity was found to be widely practised in the Palestinian Territories with rates of total consanguinity reaching 45% of all marriages in 2004. Analysis was conducted with the data from the two surveys combined and this indicated that consanguinity was significantly decreasing with time after controlling for other variables. Age of the women, their age at marriage, region and locality type they lived in and their standard of living were all found to be significant predictors of consanguinity. The education level of the women was not found to be significant. After controlling for the survey year, women's labour force status was also found to be a non-significant predictor of consanguinity. Although consanguinity was found to be significantly decreasing slowly with time after controlling for other variables, the future trends of consanguinity are not known due to the unstable political situation in the territories, which could have a direct effect on marriage patterns.

  10. Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.

    PubMed

    Lezirovitz, Karina; Pardono, Eliete; de Mello Auricchio, Maria T B; de Carvalho E Silva, Fernando L; Lopes, Juliana J; Abreu-Silva, Ronaldo S; Romanos, Jihane; Batissoco, Ana C; Mingroni-Netto, Regina C

    2008-01-01

    Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To date, 52 loci responsible for autosomal recessive deafness have been mapped and 24 genes identified. Here, we report a large inbred Brazilian pedigree with 26 subjects affected by prelingual deafness. Given the extensive consanguinity found in this pedigree, the most probable pattern of inheritance is autosomal recessive. However, our linkage and mutational analysis revealed, instead of an expected homozygous mutation in a single gene, two different mutant alleles and a possible third undetected mutant allele in the MYO15A gene (DFNB3 locus), as well as evidence for other causes for deafness in the same pedigree. Among the 26 affected subjects, 15 were homozygous for the novel c.10573delA mutation in the MYO15A gene, 5 were compound heterozygous for the mutation c.10573delA and the novel deletion c.9957_9960delTGAC and one inherited only a single c.10573delA mutant allele, while the other one could not be identified. Given the extensive consanguinity of the pedigree, there might be at least one more deafness locus segregating to explain the condition in some of the subjects whose deafness is not clearly associated with MYO15A mutations, although overlooked environmental causes could not be ruled out. Our findings illustrate a high level of etiological heterogeneity for deafness in the family and highlight some of the pitfalls of genetic analysis of large genes in extended pedigrees, when homozygosity for a single mutant allele is expected.

  11. Obstetric Outcomes of First- and Second-Generation Pakistani Immigrants: A Comparison Study at a Low-Risk Maternity Ward in Norway.

    PubMed

    Bakken, Kjersti S; Skjeldal, Ola H; Stray-Pedersen, Babill

    2017-02-01

    This population-based study compares obstetric outcomes of first- and second-generation Pakistani immigrants and ethnic Norwegians who gave birth at the low-risk maternity ward in Baerum Hospital in Norway from 2006 to 2013. We hypothesized that second-generation Pakistani immigrants are more similar to the ethnic Norwegians because of increased acculturation. Outcome measures were labor onset, epidural analgesia, labor dystocia, episiotomy, vaginal/operative delivery, postpartum hemorrhage, preterm birth, birth weight, transfer to a neonatal intensive care unit, and neonatal jaundice. Compared to first-generation Pakistani immigrants, the second-generation reported more health issues before pregnancy, and they had a higher proportion of preterm births compared to Norwegians. Newborns of first-generation immigrants were more often transferred to a neonatal intensive care compared to Norwegian newborns. Few intergenerational differences in the obstetric outcomes were found between the two generations. A high prevalence of consanguinity in second-generation immigrants suggests the maintenance of a traditional Pakistani marriage pattern.

  12. Consanguineous marriages in the province of Antalya, Turkey.

    PubMed

    Alper, O M; Erengin, H; Manguoğlu, A E; Bilgen, T; Cetin, Z; Dedeoğlu, N; Lüleci, G

    2004-01-01

    To assess the trends in the frequency and the medical effects of consanguinity in the south coast of Turkish population using local and national data in the last 11 years. This cross-sectional study was carried out in Manavgat province, which is a major tourism center on the Mediterranean coast of Turkey. The authors studied consanguineous marriages in rural and urban population in the Mediterranean coast, Manavgat province, Turkey, via a 1500 random survey sample of married couples. There has been a significant increase in the incidence of consanguineous marriages in rural areas (40.7%) since 1989 in the southern population of Turkey. The results showed that the most frequent type of marriage was between the first cousins. It is found that there is no statistically significant difference between the consanguineous and non-consanguineous marriages in the different age groups. The results were discussed on the basis of educational status, reasons for having consanguineous marriages and the general medical effects as well as with the relation of congenital malformations. The custom of consanguineous unions in the Mediterranean population of Turkey is still extremely high, and preventive measures should be done to decrease its frequency and associated complications.

  13. Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases

    PubMed Central

    Kabir, Firoz; Ullah, Inayat; Ali, Shahbaz; Gottsch, Alexander D.H.; Naeem, Muhammad Asif; Assir, Muhammad Zaman; Khan, Shaheen N.; Akram, Javed; Riazuddin, Sheikh; Ayyagari, Radha; Hejtmancik, J. Fielding

    2016-01-01

    Purpose This study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families. Methods Large consanguineous families were ascertained from the Punjab province of Pakistan. An ophthalmic examination consisting of a fundus evaluation and electroretinography (ERG) was completed, and small aliquots of blood were collected from all participating individuals. Genomic DNA was extracted from white blood cells, and a genome-wide linkage or a locus-specific exclusion analysis was completed with polymorphic short tandem repeats (STRs). Two-point logarithm of odds (LOD) scores were calculated, and all coding exons and exon–intron boundaries of RP1 were sequenced to identify the causal mutation. Results The ophthalmic examination showed that affected individuals in all families manifest cardinal symptoms of RP. Genome-wide scans localized the disease phenotype to chromosome 8q, a region harboring RP1, a gene previously implicated in the pathogenesis of RP. Sanger sequencing identified a homozygous single base deletion in exon 4: c.3697delT (p.S1233Pfs22*), a single base substitution in intron 3: c.787+1G>A (p.I263Nfs8*), a 2 bp duplication in exon 2: c.551_552dupTA (p.Q185Yfs4*) and an 11,117 bp deletion that removes all three coding exons of RP1. These variations segregated with the disease phenotype within the respective families and were not present in ethnically matched control samples. Conclusions These results strongly suggest that these mutations in RP1 are responsible for the retinal phenotype in affected individuals of all four consanguineous families. PMID:27307693

  14. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

    PubMed

    Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease.

  15. Journalism Education in the Pakistani Borderlands

    ERIC Educational Resources Information Center

    Pintak, Lawrence

    2012-01-01

    Students brave roadside bombs and Taliban threats while on class assignments. Professors are kidnapped and killed. Campus radio stations get regular visits from military intelligence. Welcome to journalism education in Pakistan's tribal areas. The region is off-limits to most outsiders, so students find themselves reporting for Pakistani and…

  16. The Religification of Pakistani-American Youth

    ERIC Educational Resources Information Center

    Ghaffar-Kucher, Ameena

    2012-01-01

    This article describes a cultural production process called religification, in which religious affiliation, rather than race or ethnicity, has become the core category of identity for working-class Pakistani-American youth in the United States. In this dialectical process, triggered by political changes following the September 11 terrorist…

  17. Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

    PubMed Central

    Liu, Yo-Tsen; Hersheson, Joshua; Plagnol, Vincent; Fawcett, Katherine; Duberley, Kate E C; Preza, Elisavet; Hargreaves, Iain P; Chalasani, Annapurna; Laurá, Matilde; Wood, Nick W; Reilly, Mary M; Houlden, Henry

    2014-01-01

    Background The autosomal-recessive cerebellar ataxias (ARCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders. The large number of ARCA genes leads to delay and difficulties obtaining an exact diagnosis in many patients and families. Ubiquinone (CoQ10) deficiency is one of the potentially treatable causes of ARCAs as some patients respond to CoQ10 supplementation. The AarF domain containing kinase 3 gene (ADCK3) is one of several genes associated with CoQ10 deficiency. ADCK3 encodes a mitochondrial protein which functions as an electron-transfer membrane protein complex in the mitochondrial respiratory chain (MRC). Methods We report two siblings from a consanguineous Pakistani family who presented with cerebellar ataxia and severe myoclonus from adolescence. Whole exome sequencing and biochemical assessment of fibroblasts were performed in the index patient. Results A novel homozygous frameshift mutation in ADCK3 (p.Ser616Leufs*114), was identified in both siblings. This frameshift mutation results in the loss of the stop codon, extending the coding protein by 81 amino acids. Significant CoQ10 deficiency and reduced MRC enzyme activities in the index patient's fibroblasts suggested that the mutant protein may reduce the efficiency of mitochondrial electron transfer. CoQ10 supplementation was initiated following these genetic and biochemical analyses. She gained substantial improvement in myoclonic movements, ataxic gait and dysarthric speech after treatment. Conclusion This study highlights the importance of diagnosing ADCK3 mutations and the potential benefit of treatment for patients. The identification of this new mutation broadens the phenotypic spectrum associated with ADCK3 mutations and provides further understanding of their pathogenic mechanism. PMID:24218524

  18. [Gingival recessions and orthodontics].

    PubMed

    Renkema, A M; Padmos, J A D; de Quincey, G de

    2015-11-01

    Gingival recessions represent the most visible periodontal disease. The prevalence of gingival recessions is high. The root surface is literally exposed to negative influences such as erosion, abrasion, discoloration and decay. Moreover, gingival recessions can affect the quality of life by increased thermal sensitivity and reduced dento-gingival aesthetics. The aetiology of gingival recessions is complex and considered to be multifactorial. In order to prevent the development of gingival recessions during and after orthodontic treatment, several factors should be taken into account, among which maintenance of optimal oral hygiene and respect for the 'biological envelope' are decisive. Once gingival recessions have developed, orthodontic therapy can play a positive role in their treatment.

  19. Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population

    PubMed Central

    Mumtaz, Sara; Riaz, Hafiza Fizzah; Touseef, Mohammad; Basit, Sulman; Haque, Muhammad Faiyaz Ul; Malik, Sajid

    2015-01-01

    Grebe syndrome (OMIM-200700) is a very rare type of acromesomelic dysplasia with autosomal recessive inheritance. We studied a Pakistani family with two affected individuals having typical features of Grebe chondrodysplasia. Patients were observed with short and deformed limbs having a proximo-distal gradient of severity. Hind-limbs were more severely affected than fore-limbs. Digits on autopods were very short and nonfunctional. Index subject also had nearsightedness. However, symptoms in the craniofacial and axial skeleton were minimal. Genetic analysis revealed four base pair insertion mutation (c.1114insGAGT) in gene coding cartilage-derived morphogenetic protein-1 (CDMP1). This mutation was predicted to cause premature stop codon. The clinical presentation in this study broadens the range of phenotypes associated with CDMP1 mutation in Pakistani population. PMID:26870132

  20. Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant.

    PubMed

    Mahdieh, Nejat; Rabbani, Bahareh; Shirkavand, Atefeh; Bagherian, Hamideh; Movahed, Zahra Shahab; Fouladi, Paanti; Rahiminejad, Faezeh; Masoudifard, Masoumeh; Akbari, Mohammad Taghi; Zeinali, Sirous

    2011-01-01

    Mutations in GJB2 and GJB6 genes are the main causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations. Here, we investigated GJB2 and GJB6 mutations in 114 patients from 77 affected ARNSHL families including 54 consanguineous marriages and 23 nonrelative marriages in the Iranian population. Clinical studies and genetic counseling were performed for all families. GJB2 and GJB6 genes were directly sequenced. Three known GJB6 large deletions [del(GJB6-D13S1830), del(GJB6-D13S1854), and a 920 kb deletion] were also checked by quantification of a common deleted region within the GJB6 gene. The frequency of consanguinity was 70.13% among the studied families. Biallelic GJB2 mutations were 16.67% in consanguineous marriages and 4.35% in nonrelative marriages. Mutations found were 35delG, delE120, R127H, M163V, W24X, V37I, G12D, V84A, 313-326del14, and E110K. The latter was a novel variant. Neither point mutation nor a large deletion in the GJB6 gene was found in the population. Mean frequency of GJB2 mutations was 17.92%. GJB2 mutations (and not GJB6 mutations) are the major causes of hearing loss in Iran. The role of consanguineous marriages is also highlighted in occurrence of GJB2-related hearing loss. We suggest that other genes may be involved in the population.

  1. Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.

    PubMed

    Gurgel-Giannetti, Juliana; Senkevics, Adriano S; Zilbersztajn-Gotlieb, Dinorah; Yamamoto, Lydia U; Muniz, Viviane P; Pavanello, Rita C M; Oliveira, Acary B; Zatz, Mayana; Vainzof, Mariz

    2012-02-01

    We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myotonia phenotype. They carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X). None of the 6 heterozygote carriers show any sign of myotonia on clinical evaluation or electromyography. These findings confirm the autosomal recessive inheritance of the novel mutation in this family, as well as the occurrence of phenotypic variability in the autosomal recessive forms of myotonia.

  2. [Frequency of consanguineous unions in the Tlemcen area (West Algeria)].

    PubMed

    Zaoui, Salah; Biémont, Christian

    2002-01-01

    In order to describe consanguineous unions and their effects in a sample of the Algerian population, we interviewed 3,983 couples in a hospital and from urban and rural areas near Tlemcen. We observed that unions between cousins represented 34.0% of the marriages. The frequency of unions between relatives was lower in the urban (30.6%) than in the rural areas (40.5%). This difference can be explained by changing custom and family relationships in urban areas, and is evidenced by social and anthropologic factors and the attitude towards consanguineous unions.

  3. The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

    PubMed Central

    Keser, Vafa; Khan, Ayesha; Siddiqui, Sorath; Lopez, Irma; Ren, Huanan; Qamar, Raheel; Nadaf, Javad; Majewski, Jacek; Chen, Rui; Koenekoop, Robert K.

    2017-01-01

    Purpose To evaluate consanguineous pedigrees from Pakistan with a clinical diagnosis of nonsyndromic congenital retinal nonattachment (NCRNA) and identify genes responsible for the disease as currently only one NCRNA gene is known (atonal basic helix-loop-helix transcription factor 7: ATOH7). Methods We implemented a three-step genotyping platform: single nucleotide polymorphism genotyping to identify loss of heterozygosity regions in patients, Retinal Information Network panel screening for mutations in currently known retinal genes. Negative patients were then subjected to whole exome sequencing. Results We evaluated 21 consanguineous NCRNA pedigrees and identified the causal mutations in known retinal genes in 13 out of our 21 families. We found mutations in ATOH7 in three families. Surprisingly, we then found mutations in familial exudative vitreoretinopathy (FEVR) genes; low-density lipoprotein receptor-related protein 5 mutations (six families), tetraspanin 12 mutations (two families), and NDP mutations (two families). Thus, 62% of the patients were successfully genotyped in our study with seven novel and six previously reported mutations in known retinal genes. Conclusions Although the clinical diagnosis of all children was NCRNA with severe congenital fibrotic retinal detachments, the molecular diagnosis determined that the disease process was in fact a very severe form of FEVR in 10 families. Because severe congenital retinal detachment has not been previously associated with all the FEVR genes, we have thus expanded the phenotypic spectrum of FEVR, a highly variable retinal detachment phenotype that has clinical overlap with NCRNA. We identified seven novel mutations. We also established for the first time genetic overlap between the Iranian and Pakistani populations. We identified eight NCRNA families that do not harbor mutations in any known retinal genes, suggesting novel causal genes in these families. PMID:28192794

  4. Acoustic Analysis of /?/ and /ð/ Sounds in Pakistani English

    ERIC Educational Resources Information Center

    Mahmood, Muhammad Asim; Asghar, Muhammad; Jabeen, Farhat

    2011-01-01

    This paper aims at discovering the nature and extent of deviation in the articulation of consonants in Pakistani English due to the impact of mother tongue. A detailed experiment has been carried out with the help of Praat to analyze the acoustic properties of /?/ and /ð/ sounds spoken by Pakistani speakers. The research reveals that Pakistani…

  5. Moral Reasoning of Nigerian and Pakistani Muslim Adolescents

    ERIC Educational Resources Information Center

    Maqsud, M.

    1977-01-01

    Two studies were conducted to test the universality of Piaget's and Kohlberg's stages of development of moral judgment in Nigerian and Pakistani cultures. Results show that the moral reasoning of Nigerian and Pakistani Muslim adolescents are greatly affected by their cultural values. (Editor/RK)

  6. An Investigation of Generic Structures of Pakistani Doctoral Thesis Acknowledgements

    ERIC Educational Resources Information Center

    Rofess, Sakander; Mahmood, Muhammad Asim

    2015-01-01

    This paper investigates Pakistani doctoral thesis acknowledgements from genre analysis perspective. A corpus of 235 PhD thesis acknowledgements written in English was taken from Pakistani doctoral theses collected from eight different disciplines. HEC Research Repository of Pakistan was used as a data sources. The theses written by Pakistani…

  7. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinsm (OCA)

    SciTech Connect

    Tripathi, R.K.; Droetto, S.; Strunk, K.M.; Holmes, S.A.; Spritz, R.A. ); Bundey, S.; Musarella, M.A.

    1993-12-01

    Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from mutations of the tyrosinase gene (TYR gene) encoding tyrosinase, the enzyme that catalyzes the first two steps of melanin biosynthesis. Mutations of the TYR gene have been identified in a large number of patients, most of Caucasian ethnic origin, with various forms of type I OCA. The authors present an analysis of the TYR gene in eight Indo-Pakistani patients with type I OCA. The authors describe four novel TYR gene mutations and a fifth mutation previously observed in a Caucasian patient. 16 refs., 6 figs.

  8. Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population

    PubMed Central

    2011-01-01

    Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate. MPS I patients have a wide range of clinical presentations, that makes it difficult to predict patient phenotype which is needed for genetic counseling and also impedes the selection and evaluation of patients undergoing therapy bone marrow transplantation. Aim of the study consanguinity rates have been determined among 14 families with mucopolysaccharidosis type I, seen in the pediatric departments of different geographic areas of Tunisia (Central and Southern areas) for the period August 2004 - August 2011 in order to investigate the relation between consanguinity and this disorder. Patients and methods Clinical and molecular analyses confirmed the diagnosis for MPS type I in the studied families. Results Most of the Tunisian MPS I patients have been identified at the homozygous status: p.P533R mutation (7 homozygous and one double heterozygous p.L578Q/p.P533R patients; 41.66% of all the investigated MPSI patients), p.F177S (1 homozygous patient; 5.55%), p.L530fs (1 patient; 5.55%), p.Y581X (2 patients; 11.11%), p.F602X (3 patients; 16.66%), p.R628X (1 patient; 5.55%). Another mutation: p.L578Q has been identified at the heterozygous status in the only double heterozygous p.L578Q/p.P533R case. Part of the mutations was the result of a founder effect. These described points are the consequences of the high rate of consanguinity. Conclusion The high frequency of p.P533R mutation could be explained by the high degree of inbreeding. This is due to the richness of the genetic background of the studied population. A multidisciplinary approach is essential to develop adequate preventive program adapted to the social, cultural, and economic context. PMID:22074387

  9. Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

    PubMed Central

    Lal, Dennis; Neubauer, Bernd A.; Toliat, Mohammad R.; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Kamrath, Clemens; Schänzer, Anne; Sander, Thomas; Hahn, Andreas; Nothnagel, Michael

    2016-01-01

    Massively parallel sequencing of whole genomes and exomes has facilitated a direct assessment of causative genetic variation, now enabling the identification of genetic factors involved in rare diseases (RD) with Mendelian inheritance patterns on an almost routine basis. Here, we describe the illustrative case of a single consanguineous family where this strategy suffered from the difficulty to distinguish between two etiologically distinct disorders, namely the co-occurrence of hereditary hypophosphatemic rickets (HRR) and congenital myopathies (CM), by their phenotypic manifestation alone. We used parametric linkage analysis, homozygosity mapping and whole exome-sequencing to identify mutations underlying HRR and CM. We also present an approximate approach for assessing the probability of co-occurrence of two unlinked recessive RD in a single family as a function of the degree of consanguinity and the frequency of the disease-causing alleles. Linkage analysis and homozygosity mapping yielded elusive results when assuming a single RD, but whole-exome sequencing helped to identify two mutations in two genes, namely SLC34A3 and SEPN1, that segregated independently in this family and that have previously been linked to two etiologically different diseases. We assess the increase in chance co-occurrence of rare diseases due to consanguinity, i.e. under circumstances that generally favor linkage mapping of recessive disease, and show that this probability can increase by several orders of magnitudes. We conclude that such potential co-occurrence represents an underestimated risk when analyzing rare or undefined diseases in consanguineous families and should be given more consideration in the clinical and genetic evaluation. PMID:26789268

  10. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

    PubMed Central

    Naz, S; Griffith, A; Riazuddin, S; Hampton, L; Battey, J; Khan, S; Riazuddin, S; Wilcox, E; Friedman, T

    2004-01-01

    We mapped a human deafness locus DFNB36 to chromosome 1p36.3 in two consanguineous families segregating recessively inherited deafness and vestibular areflexia. This phenotype co-segregates with either of two frameshift mutations, 1988delAGAG and 2469delGTCA, in ESPN, which encodes a calcium-insensitive actin-bundling protein called espin. A recessive mutation of ESPN is known to cause hearing loss and vestibular dysfunction in the jerker mouse. Our results establish espin as an essential protein for hearing and vestibular function in humans. The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of non-syndromic deafness. PMID:15286153

  11. Recess Makes Kids Smarter

    ERIC Educational Resources Information Center

    Adams, Caralee

    2011-01-01

    Recess has been scaled back or cut altogether in a number of schools around the country. The trend can be traced back to the late eighties and was accelerated under No Child Left Behind. Districts under pressure to show academic progress began to squeeze as much instruction into the day as possible. Others eliminated recess because of concerns…

  12. Starving for Recess

    ERIC Educational Resources Information Center

    Patt, Mary Johnson

    2011-01-01

    Every weekday, millions of American schoolchildren throw away their half-eaten cafeteria lunches so that they can run outside to play. The traditional placement of lunch before recess, coupled with the recent decline in overall recess time to meet academic time constraints, forces children to choose between two essential needs: (1) food; and (2)…

  13. Recess--It's Indispensable!

    ERIC Educational Resources Information Center

    Jarrett, Olga; Waite-Stupiansky, Sandra

    2009-01-01

    The demise of recess in many elementary schools--and of outdoor play in general--is an issue of great concern to many members of the Play, Policy, and Practice Interest Forum. Most people remember recess as an important part of the school day. It was a time to be outdoors; to organize games; to play on the swings, slides, and other playground…

  14. More Recess Time, Please!

    ERIC Educational Resources Information Center

    Chang, Rong; Coward, Fanni Liu

    2015-01-01

    Students in Shanghai, China, get much more recess time than their U.S. counterparts throughout their education. As U.S. education reform efforts seek ways of raising achievement, they have begun replacing recess with academic time. The lesson from Shanghai is that this may not be the best strategy. But whether the Shanghai system of more and…

  15. 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

  16. Mutation of ATF6 causes autosomal recessive achromatopsia.

    PubMed

    Ansar, Muhammad; Santos-Cortez, Regie Lyn P; Saqib, Muhammad Arif Nadeem; Zulfiqar, Fareeha; Lee, Kwanghyuk; Ashraf, Naeem Mahmood; Ullah, Ehsan; Wang, Xin; Sajid, Sundus; Khan, Falak Sher; Amin-ud-Din, Muhammad; Smith, Joshua D; Shendure, Jay; Bamshad, Michael J; Nickerson, Deborah A; Hameed, Abdul; Riazuddin, Saima; Ahmed, Zubair M; Ahmad, Wasim; Leal, Suzanne M

    2015-09-01

    Achromatopsia (ACHM) is an early-onset retinal dystrophy characterized by photophobia, nystagmus, color blindness and severely reduced visual acuity. Currently mutations in five genes CNGA3, CNGB3, GNAT2, PDE6C and PDE6H have been implicated in ACHM. We performed homozygosity mapping and linkage analysis in a consanguineous Pakistani ACHM family and mapped the locus to a 15.12-Mb region on chromosome 1q23.1-q24.3 with a maximum LOD score of 3.6. A DNA sample from an affected family member underwent exome sequencing. Within the ATF6 gene, a single-base insertion variant c.355_356dupG (p.Glu119Glyfs*8) was identified, which completely segregates with the ACHM phenotype within the family. The frameshift variant was absent in public variant databases, in 130 exomes from unrelated Pakistani individuals, and in 235 ethnically matched controls. The variant is predicted to result in a truncated protein that lacks the DNA binding and transmembrane domains and therefore affects the function of ATF6 as a transcription factor that initiates the unfolded protein response during endoplasmic reticulum (ER) stress. Immunolabeling with anti-ATF6 antibodies showed localization throughout the mouse neuronal retina, including retinal pigment epithelium, photoreceptor cells, inner nuclear layer, inner and outer plexiform layers, with a more prominent signal in retinal ganglion cells. In contrast to cytoplasmic expression of wild-type protein, in heterologous cells ATF6 protein with the p.Glu119Glyfs*8 variant is mainly confined to the nucleus. Our results imply that response to ER stress as mediated by the ATF6 pathway is essential for color vision in humans.

  17. 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

  18. Consanguinity and late fertility: spatial analysis reveals positive association patterns.

    PubMed

    Lisa, Antonella; Astolfi, Paola; Zei, Gianna; Tentoni, Stefania

    2015-01-01

    The role of consanguinity on human complex traits is an important and controversial issue. In this work we focused on the Sardinian population and examined the effect of consanguineous unions on late female fertility. During the last century the island has been characterized by a high incidence of marriages between relatives, favoured by socio economic conditions and geographical isolation, and by high fertility despite a widespread tendency to delay reproduction. Through spatial analysis techniques, we explored the geographical heterogeneity of consanguinity and late fertility, and identified in Central-Eastern Sardinia a common area with an excess of both traits, where the traits are positively associated. We found that their association did not significantly affect women's fertility in the area, despite the expected negative role of both traits. Intriguingly, this critical zone corresponds well to areas reported by previous studies as being peculiar for a high frequency of centenarians and for lower risk in pregnancy outcome. The proposed approach can be generally exploited to identify target populations on which socioeconomic, biodemographic and genetic data can be collected at the individual level, and deeper analyses carried out to disentangle the determinants of complex biological traits and to investigate their association.

  19. Bloom syndrome: An analysis of consanguineous families assigns the locus mutated to chromosome band 15q26. 1

    SciTech Connect

    German, J.; Roe, A.M.; Ellis, N.A. ); Leppert, M.F. )

    1994-07-05

    By the principle of identity by descent, parental consanguinity in individuals with rare recessively transmitted disorders dictates homozygosity not just at the mutated disease-associated locus but also at sequences that flank that locus closely. In 25 of 26 individuals with Bloom syndrome examined whose parents were related, a polymorphic tetranucleotide repeat in an intron of the protooncogene FES was homozygous far more often than expected (P < 0.0001 by x[sup 2]). Therefore, BLM, the gene that when mutated gives rise to Bloom syndrome, is tightly linked to FES, a gene whose chromosome position is known to be 15q26.1. This successful approach to the assignment of the Bloom syndrome locus to one short segment of the human genome simultaneously (i) demonstrates the power of homozygosity mapping and (ii) becomes the first step in a [open quotes]reverse[close quotes] genetics definition of the primary defect in Bloom syndrome.

  20. [Autosomal recessive cerebellar ataxias].

    PubMed

    Tranchant, Christine; Anheim, Mathieu

    2009-12-01

    Friedreich ataxia is the most frequent recessive cerebral ataxia d should always be researched first. Ataxia with isolated vitamin E deficiency and abetalipoproteinemia have a specific treatment. Associated neurological signs such polyneuroapthy, ophtalmologic or oculomotor signs, pyramidal signs, and cerebellar MRI can lead to the etiological diagnosis. Biological tests should be: vitamin E, cholesterol, alpha-fetoprotein levels, acanthocytes, than phytanic acid, cholestanol, lysosomal enzymes. Numerous autosomal recessive cerebellar ataxia remain without etiology.

  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. Acceptability of GM foods among Pakistani consumers.

    PubMed

    Ali, Akhter; Rahut, Dil Bahadur; Imtiaz, Muhammad

    2016-04-02

    In Pakistan majority of the consumers do not have information about genetically modified (GM) foods. In developing countries particularly in Pakistan few studies have focused on consumers' acceptability about GM foods. Using comprehensive primary dataset collected from 320 consumers in 2013 from Pakistan, this study analyzes the determinants of consumers' acceptability of GM foods. The data was analyzed by employing the bivariate probit model and censored least absolute deviation (CLAD) models. The empirical results indicated that urban consumers are more aware of GM foods compared to rural consumers. The acceptance of GM foods was more among females' consumers as compared to male consumers. In addition, the older consumers were more willing to accept GM food compared to young consumers. The acceptability of GM foods was also higher among wealthier households. Low price is the key factor leading to the acceptability of GM foods. The acceptability of the GM foods also reduces the risks among Pakistani consumers.

  3. Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.

    PubMed

    Mehmood, Sabba; Jan, Abid; Muhammad, Dost; Ahmad, Farooq; Mir, Hina; Younus, Muhammad; Ali, Ghazanfar; Ayub, Muhammad; Ansar, Muhammad; Ahmad, Wasim

    2015-08-01

    Hypotrichosis is characterised by sparse scalp hair, sparse to absent eyebrows and eyelashes, or absence of hair from other parts of the body. In few cases, the condition is associated with tightly curled woolly scalp hair. The present study searched for disease-causing sequence variants in the genes in four Pakistani lineal consanguineous families exhibiting features of hypotrichosis or woolly hair. A haplotype analysis established links in all four families to the LIPH gene located on chromosome 3q27.2. Subsequently, sequencing LIPH identified a novel non-sense mutation (c.328C>T; p.Arg110*) in one and a previously reported 2-bp deletion mutation (c.659_660delTA, p.Ile220ArgfsX29) in three other families.

  4. 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.

  5. Effect of consanguinity on Argentinean Angus beef DNA traceability.

    PubMed

    Baldo, A; Rogberg-Muñoz, A; Prando, A; Mello Cesar, A S; Lirón, J P; Sorarrain, N; Ramelli, P; Posik, D M; Pofcher, E; Ripoli, M V; Beretta, E; Peral-García, P; Vaca, R; Mariani, P; Giovambattista, G

    2010-08-01

    Since the 1990s several authors have envisaged the use of DNA to certify meat origin. Two major parameters must be assessed before a DNA based traceability protocol can be implemented in the food chain: (i) the information content of a DNA marker set in a specific livestock breed or group of breeds; (ii) the minimum number of DNA markers needed to obtain a statistically acceptable match probability. The objective of the present work was to establish the effect of different levels of inbreeding in the matching efficiency, and the minimum number of microsatellite markers needed, in a DNA based meat traceability program, starting from an 11-microsatellite marker panel. Samples were obtained from beef production farms in South America, where animals are typically bred under pasture-based extensive conditions. Three groups of animals with different consanguinity rates were sampled. Exclusion power (Q) was higher than 0.999998 and match probability lower than 3.01E-08, for the whole set of markers within each group. Both values were affected by consanguinity. To reach a two mismatch criteria exclusion power (Q(2)) of 99.99, six markers were needed in unrelated animals whereas seven markers were needed in related animals. To reach Q(2)=99.9999, 8 and 10 microsatellite markers, respectively, were needed. In general, one or two more microsatellite markers were needed to identify consanguineous animals. This study proved the DNA marker set used to be suitable for the identification of the meat from all slaughtered animals in Argentina, per week, month, and year.

  6. Exploring Identity in Muslim Moroccan and Pakistani Immigrant Women

    PubMed Central

    Giuliani, Cristina; Tagliabue, Semira

    2015-01-01

    This study presents a qualitative investigation of how Muslim Moroccan and Pakistani female immigrants living in Italy conceptualize their cultural identity. Ten Moroccan and 10 Pakistani (adolescent and adult) women were interviewed through in-depth semi-structured interviews. The interviewees expressed a strong attachment to their culture of origin: their religion is a crucial aspect of their identity, along with certain cultural rules and traditional values. At the same time, both Moroccan and Pakistani participants were ambivalent toward and experienced difficulties in developing a connection to the host country, although the two groups exhibit their lack of connection to their host country in different ways: Moroccans’ self-representation is marked by a sense of foreignness and by a lack of an emotional connection with places where they are living while Pakistanis tend to express cultural distance and conflict with the host culture’s values. For both the Moroccan and Pakistani groups, the challenge of integration and biculturalism seems demanding in the Italian context and is marked by a deep feeling of emptiness, a lack of an emotional bond with the new country, and a strong cultural ambivalence. Finally, narrative themes are articulated across four interrelated dimensions (cultural, religious, gendered, spatial), revealing interesting differences based on national origin and generation. PMID:27247642

  7. The Recess Renaissance

    ERIC Educational Resources Information Center

    Keeler, Rusty

    2015-01-01

    The author tells of his work around the country and world on transforming how schools do recess, free play, and outside time by transforming their outdoor spaces to match. Instead of a playground of fixed structures like traditional school grounds, newer spaces are filled with loose materials that children can use to build forts, dens, and tree…

  8. Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

    SciTech Connect

    Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M.

    1995-12-04

    The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. 35 refs., 2 figs., 2 tabs.

  9. Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

    PubMed Central

    Borck, Guntram; Rehman, Atteeq Ur; Lee, Kwanghyuk; Pogoda, Hans-Martin; Kakar, Naseebullah; von Ameln, Simon; Grillet, Nicolas; Hildebrand, Michael S.; Ahmed, Zubair M.; Nürnberg, Gudrun; Ansar, Muhammad; Basit, Sulman; Javed, Qamar; Morell, Robert J.; Nasreen, Nabilah; Shearer, A. Eliot; Ahmad, Adeel; Kahrizi, Kimia; Shaikh, Rehan S.; Ali, Rana A.; Khan, Shaheen N.; Goebel, Ingrid; Meyer, Nicole C.; Kimberling, William J.; Webster, Jennifer A.; Stephan, Dietrich A.; Schiller, Martin R.; Bahlo, Melanie; Najmabadi, Hossein; Gillespie, Peter G.; Nürnberg, Peter; Wollnik, Bernd; Riazuddin, Saima; Smith, Richard J.H.; Ahmad, Wasim; Müller, Ulrich; Hammerschmidt, Matthias; Friedman, Thomas B.; Riazuddin, Sheikh; Leal, Suzanne M.; Ahmad, Jamil; Kubisch, Christian

    2011-01-01

    By using homozygosity mapping in a consanguineous Pakistani family, we detected linkage of nonsyndromic hearing loss to a 7.6 Mb region on chromosome 3q13.31-q21.1 within the previously reported DFNB42 locus. Subsequent candidate gene sequencing identified a homozygous nonsense mutation (c.1135G>T [p.Glu379X]) in ILDR1 as the cause of hearing impairment. By analyzing additional consanguineous families with homozygosity at this locus, we detected ILDR1 mutations in the affected individuals of 10 more families from Pakistan and Iran. The identified ILDR1 variants include missense, nonsense, frameshift, and splice-site mutations as well as a start codon mutation in the family that originally defined the DFNB42 locus. ILDR1 encodes the evolutionarily conserved immunoglobulin-like domain containing receptor 1, a putative transmembrane receptor of unknown function. In situ hybridization detected expression of Ildr1, the murine ortholog, early in development in the vestibule and in hair cells and supporting cells of the cochlea. Expression in hair cell- and supporting cell-containing neurosensory organs is conserved in the zebrafish, in which the ildr1 ortholog is prominently expressed in the developing ear and neuromasts of the lateral line. These data identify loss-of-function mutations of ILDR1, a gene with a conserved expression pattern pointing to a conserved function in hearing in vertebrates, as underlying nonsyndromic prelingual sensorineural hearing impairment. PMID:21255762

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

    PubMed Central

    Teebi, A S

    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 isolates and semi-isolates in some extended families and Bedouin tribes. Genetic services have been available in Kuwait for over a decade. During this time it has become clear that Arabs have a high frequency of genetic disorders, and in particular autosomal recessive traits. Their pattern is unique and some disorders are relatively common. Examples are Bardet-Biedl and Meckel syndromes, phenylketonuria, and familial Mediterranean fever. A relatively large number of new syndromes and variants have been delineated in Kuwait's population, many being the result of homozygosity for autosomal recessive genes that occurred because of inbreeding. Some of these syndromes have subsequently been found in other parts of the world, negating the concept of the private syndrome. This paper provides an overview of autosomal recessive disorders among the Arabs in Kuwait from a personal perspective and published studies, and highlights the need for genetic services in Arab countries with the goal of prevention and treatment of genetic disorders. PMID:8014972

  11. The prevalence and correlates of consanguineous marriages in Yemen: similarities and contrasts with other Arab countries.

    PubMed

    Jurdi, Rozzet; Saxena, Prem C

    2003-01-01

    Using data on 9762 women from the 1997 Yemen Demographic and Maternal and Child Health Survey, this paper examines the prevalence and socioeconomic correlates of consanguineous marriages in Yemen. The results indicate that 40% of marriages are consanguineous, over 85% of which are between first cousins. The prevalence of consanguineous marriages appears to have increased over time, particularly for the last marriage cohort. As for socioeconomic correlates, the study confirms the inverse association between consanguineous marriages and women's education and occupation, age at marriage and economic status. However, no statistically significant difference in the prevalence of consanguinity has been found by place of residence and geographical region. Somewhat unexpected results have been obtained by husband's background characteristics, with higher educated men and those working in the modern sector of the economy being more likely to be married to cousins.

  12. What Is a Recessive Allele?

    ERIC Educational Resources Information Center

    American Biology Teacher, 1991

    1991-01-01

    Presents four misconceptions students have concerning the concepts of recessive and dominant alleles. Discusses the spectrum of dominant-recessive relationships, different levels of analysis between phenotype and genotype, possible causes of dominance, and an example involving wrinkled peas. (MDH)

  13. Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases

    PubMed Central

    Ullah, Inayat; Kabir, Firoz; Iqbal, Muhammad; Gottsch, Clare Brooks S.; Naeem, Muhammad Asif; Assir, Muhammad Zaman; Khan, Shaheen N.; Akram, Javed; Riazuddin, Sheikh; Ayyagari, Radha; Hejtmancik, J. Fielding

    2016-01-01

    Purpose To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous familial cases. Methods Seven large familial cases with multiple individuals diagnosed with retinitis pigmentosa were included in the study. Affected individuals in these families underwent ophthalmic examinations to document the symptoms and confirm the initial diagnosis. Blood samples were collected from all participating members, and genomic DNA was extracted. An exclusion analysis with microsatellite markers spanning the TULP1 locus on chromosome 6p was performed, and two-point logarithm of odds (LOD) scores were calculated. All coding exons along with the exon–intron boundaries of TULP1 were sequenced bidirectionally. We constructed a single nucleotide polymorphism (SNP) haplotype for the four familial cases harboring the K489R allele and estimated the likelihood of a founder effect. Results The ophthalmic examinations of the affected individuals in these familial cases were suggestive of RP. Exclusion analyses confirmed linkage to chromosome 6p harboring TULP1 with positive two-point LOD scores. Subsequent Sanger sequencing identified the single base pair substitution in exon14, c.1466A>G (p.K489R), in four families. Additionally, we identified a two-base deletion in exon 4, c.286_287delGA (p.E96Gfs77*); a homozygous splice site variant in intron 14, c.1495+4A>C; and a novel missense variation in exon 15, c.1561C>T (p.P521S). All mutations segregated with the disease phenotype in the respective families and were absent in ethnically matched control chromosomes. Haplotype analysis suggested (p<10−6) that affected individuals inherited the causal mutation from a common ancestor. Conclusions Pathogenic mutations in TULP1 are responsible for the RP phenotype in seven familial cases with a common ancestral mutation responsible for the disease phenotype in four of the seven families. PMID:27440997

  14. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

    PubMed

    Akawi, Nadia; McRae, Jeremy; Ansari, Morad; Balasubramanian, Meena; Blyth, Moira; Brady, Angela F; Clayton, Stephen; Cole, Trevor; Deshpande, Charu; Fitzgerald, Tomas W; Foulds, Nicola; Francis, Richard; Gabriel, George; Gerety, Sebastian S; Goodship, Judith; Hobson, Emma; Jones, Wendy D; Joss, Shelagh; King, Daniel; Klena, Nikolai; Kumar, Ajith; Lees, Melissa; Lelliott, Chris; Lord, Jenny; McMullan, Dominic; O'Regan, Mary; Osio, Deborah; Piombo, Virginia; Prigmore, Elena; Rajan, Diana; Rosser, Elisabeth; Sifrim, Alejandro; Smith, Audrey; Swaminathan, Ganesh J; Turnpenny, Peter; Whitworth, James; Wright, Caroline F; Firth, Helen V; Barrett, Jeffrey C; Lo, Cecilia W; FitzPatrick, David R; Hurles, Matthew E

    2015-11-01

    Discovery of most autosomal recessive disease-associated genes has involved analysis of large, often consanguineous multiplex families or small cohorts of unrelated individuals with a well-defined clinical condition. Discovery of new dominant causes of rare, genetically heterogeneous developmental disorders has been revolutionized by exome analysis of large cohorts of phenotypically diverse parent-offspring trios. Here we analyzed 4,125 families with diverse, rare and genetically heterogeneous developmental disorders and identified four new autosomal recessive disorders. These four disorders were identified by integrating Mendelian filtering (selecting probands with rare, biallelic and putatively damaging variants in the same gene) with statistical assessments of (i) the likelihood of sampling the observed genotypes from the general population and (ii) the phenotypic similarity of patients with recessive variants in the same candidate gene. This new paradigm promises to catalyze the discovery of novel recessive disorders, especially those with less consistent or nonspecific clinical presentations and those caused predominantly by compound heterozygous genotypes.

  15. Domestic violence and consanguineous marriages - perspective from Rawalpindi, Pakistan.

    PubMed

    Shaikh, M Ali; Kayani, A; Shaikh, I Ali

    2014-01-09

    Domestic violence is globally endemic and adversely impacts the health and economic well-being of women and society. This study used the standardized and validated assessment instrument "Woman Abuse Screening Tool" to study the prevalence of various forms of domestic violence among married women. The relationship between domestic violence and consanguineous marriage was studied using the chi-squared test. Cumulatively, 1010 married women were interviewed. Emotional abuse was the most commonly reported abuse, reported by 721 (71.4%) women as either often or sometimes, followed by sexual abuse and physical abuse, reported by 527 (52.2%) and 511 (50.6%) respectively. Being married to one's cousin did not protect married women from being abused either emotionally or physically by their husbands; thsi was statistically significant. There is a need for better understanding of the magnitude and scale of domestic violence in Pakistan by using standardized assessment tools for meaningful comparisons across different parts of the country over time.

  16. School Recess and Social Development.

    ERIC Educational Resources Information Center

    Jambor, Tom

    1994-01-01

    Discusses the role of school recess periods in children's social development and academic achievement. Also examines changing attitudes toward the use of recess periods in the United States and other nations, and presents strategies for classroom teachers to use in advocating school recess periods in their schools and communities. (MDM)

  17. Attitudes of Pakistani and Pakistani heritage medical students regarding professionalism at a medical college in Karachi, Pakistan

    PubMed Central

    2014-01-01

    Background An increased interest in professionalism has been reported in the field of medical education due to concerns regarding deterioration of humanism and professional values in the teaching and practice of medicine. The primary aim of this study was to assess attitudes of Pakistani and Pakistani heritage students at a medical college in Pakistan about important elements of professionalism that an ideal medical doctor should possess. A further objective of the study was to determine students’ preferred ways of learning professionalism. Methods A written survey was distributed to undergraduate medical students at a public sector medical college at Karachi, Pakistan in 2011. Using the Penn State College of Medicine (PSCOM) Professionalism Questionnaire, attitudes of medical students of semester 1, 5, and 8 regarding professionalism were assessed anonymously. Results The mean age of the students was 21.11 ± 2.72 years. Forty-three percent of the respondents were male. Forty percent of the students held Pakistani citizenship. Thirty-five percent students were US citizens with Pakistani parents and twenty-five percent were Pakistani heritage students that had dual citizenships. No significant differences in the elements of professionalism (Accountability, Altruism, Duty, Excellence, Honesty & Integrity and Respect) mean scores or in the overall mean score of professionalism among the various classes were found. The total overall Cronbach alpha value for all elements of the professionalism in the selected classes was above 0.9. The most preferred methods for learning professionalism were role modeling by faculty, case based scenarios and role plays. Conclusion The students rated all the attributes of professionalism as important and there was no difference across the study years. The overall internal consistency of each element of professionalism was high in different classes. Faculty role models, case based scenarios and role plays may be used to teach

  18. Young Pakistani Muslim Women's Reflections on Difference, Future, and Family

    ERIC Educational Resources Information Center

    Zaidi, Sara M.

    2012-01-01

    This dissertation employs data collected from multiple sites in Southern California over a period of nine months. Several in-depth ethnographic interviews and participant observations were conducted with Pakistani Muslim women (age 17-22) and their parents in an effort to better understand the influence that parents and ethno-religious communities…

  19. Entrepreneurial Attributes among Postgraduate Students of a Pakistani University

    ERIC Educational Resources Information Center

    Ali, Akhtar; Topping, Keith J.; Tariq, Riaz H.

    2010-01-01

    This paper explores entrepreneurial attributes among the students of The Islamia University of Bahawalpur, a public sector Pakistani university. Multistage sampling was employed to maximize the representation. Five hundred and twenty one master's level students from thirty departments returned completed questionnaires. Three factors emerged: self…

  20. Autosomal recessive cerebellar ataxias

    PubMed Central

    Palau, Francesc; Espinós, Carmen

    2006-01-01

    Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (estimated prevalence 2–4/100,000), ataxia-telangiectasia (1–2.5/100,000) and early onset cerebellar ataxia with retained tendon reflexes (1/100,000). Other forms ARCA are much less common. Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorder), ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias, and ataxia associated with other features. These diseases are due to mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, α-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor apraxia (AOA1), and senataxin in ataxia with oculomotor apraxia (AOA2). Clinical diagnosis is confirmed by ancillary tests such as neuroimaging (magnetic resonance imaging, scanning), electrophysiological examination, and mutation analysis when the causative gene is identified. Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. Due to autosomal recessive inheritance, previous familial history of affected individuals is unlikely. For most ARCA there is no specific drug treatment except for coenzyme Q10 deficiency and abetalipoproteinemia. PMID:17112370

  1. Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy.

    PubMed

    Nooraine, Javeria; Vasudha, Kemmanu; Natesh, Sribhargava; Iyer, Rajesh B; Raghavendra, Seetharam

    2013-10-01

    Polymicrogyria is a type of cortical dysplasia with cortical organizational defect. Bilateral polymicrogyria are distinct with genetic basis in a subset. We hereby report a case of bilateral frontal polymicrogyria (BFP) in association with chorioretinal dystrophy and ectopia lentis (EL) in a 26-year-old lady born of a consanguineous parentage. Her male sibling also had chorioretinal dystrophy and EL. This combination of autosomal recessive inheritance has not been reported earlier in the literature and suggests a role of connective tissue genes in BFP.

  2. A 5-year survey of biopsy proven kidney diseases in Lebanon: significant variation in prevalence of primary glomerular diseases by age, population structure and consanguinity

    PubMed Central

    Karnib, Hussein H.; Gharavi, Ali G.; Aftimos, Georges; Mahfoud, Ziyad; Saad, Reem; Gemayel, Elias; Masri, Badiaa; Assaad, Shafika; Badr, Kamal F.; Ziyadeh, Fuad N.

    2010-01-01

    Background. Differences in epidemiology of kidney disease across the Middle East may arise from variations in indication for biopsy, environmental exposure and socio-economic status. The Lebanese population is composed of different ethnicities, with distinct ancestry and religion, enabling comparison of their effect on the prevalence of kidney disease within a confined geographic setting and uniform practices. Here we report 5 years’ detailed epidemiology of renal diseases, based on histological diagnosis, in a sample from three large pathology centres in Lebanon. Methods. Records of renal biopsies analysed at the American University of Beirut Medical Center, Hotel Dieu de France Hospital and the Institut National de Pathologie from January 2003 till December 2007 were retrospectively examined. We recorded the following data for each patient: age, gender, indication for renal biopsy and histopathological diagnosis. Religious affiliation and parents’ consanguinity were recorded when feasible. Results. The mean age at renal biopsy was 36.76 ± 20 years (range 1–84). The most common diagnosis was mesangioproliferative glomerulonephritis (GN; 20%), followed by focal segmental glomerulosclerosis (13.2%). While there were no differences in age, gender or indications for biopsy among different religious affiliations, mesangioproliferative GN was significantly more frequent among Muslims (P = 0.039) and offspring of consanguineous unions (P = 0.036). On the other hand, focal segmental glomerulosclerosis was most prevalent in Christians (P < 0.001). Conclusions. Variation in the distribution of diagnoses between Muslim and Christian groups likely reflects differences in population structure and ancestry. In particular, the increased prevalence of mesangioproliferative GN among offspring of consanguineous unions in Muslims suggests a recessive genetic component to this disease which may be identified via homozygosity mapping. These findings have important

  3. New autosomal recessive faciodigitogenital syndrome.

    PubMed Central

    Teebi, A S; Naguib, K K; Al-Awadi, S; Al-Saleh, Q A

    1988-01-01

    Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short stature and hair abnormalities is suggested and discussed. Images PMID:3398008

  4. CT of the pericardial recesses

    SciTech Connect

    Levy-Ravetch, M.; Auh, Y.H.; Rubenstein, W.A.; Whalen, J.P.; Kazam, E.

    1985-04-01

    Within the pericardial cavity there are several recesses where fluid can collect in close contiguity to the major bronchi and lymph nodes. These include the transverse sinus, behind the ascending aorta and pulmonary trunk; the oblique sinus, behind the left atrium; and the left pulmonic recess, between the left pulmonary artery and the left superior pulmonary vein. There are also smaller pericardial recesses between the superior and inferior pulmonary veins, posterolateral to the superior vena cava, and between the inferior vena cava and coronary sinus. An understanding of sectional anatomy is valuable for differentiation of fluid within these recesses from mediastinal masses or enlarged lymph nodes on computed tomographic scans.

  5. Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

    PubMed

    Najmabadi, Hossein; Hu, Hao; Garshasbi, Masoud; Zemojtel, Tomasz; Abedini, Seyedeh Sedigheh; Chen, Wei; Hosseini, Masoumeh; Behjati, Farkhondeh; Haas, Stefan; Jamali, Payman; Zecha, Agnes; Mohseni, Marzieh; Püttmann, Lucia; Vahid, Leyla Nouri; Jensen, Corinna; Moheb, Lia Abbasi; Bienek, Melanie; Larti, Farzaneh; Mueller, Ines; Weissmann, Robert; Darvish, Hossein; Wrogemann, Klaus; Hadavi, Valeh; Lipkowitz, Bettina; Esmaeeli-Nieh, Sahar; Wieczorek, Dagmar; Kariminejad, Roxana; Firouzabadi, Saghar Ghasemi; Cohen, Monika; Fattahi, Zohreh; Rost, Imma; Mojahedi, Faezeh; Hertzberg, Christoph; Dehghan, Atefeh; Rajab, Anna; Banavandi, Mohammad Javad Soltani; Hoffer, Julia; Falah, Masoumeh; Musante, Luciana; Kalscheuer, Vera; Ullmann, Reinhard; Kuss, Andreas Walter; Tzschach, Andreas; Kahrizi, Kimia; Ropers, H Hilger

    2011-09-21

    Common diseases are often complex because they are genetically heterogeneous, with many different genetic defects giving rise to clinically indistinguishable phenotypes. This has been amply documented for early-onset cognitive impairment, or intellectual disability, one of the most complex disorders known and a very important health care problem worldwide. More than 90 different gene defects have been identified for X-chromosome-linked intellectual disability alone, but research into the more frequent autosomal forms of intellectual disability is still in its infancy. To expedite the molecular elucidation of autosomal-recessive intellectual disability, we have now performed homozygosity mapping, exon enrichment and next-generation sequencing in 136 consanguineous families with autosomal-recessive intellectual disability from Iran and elsewhere. This study, the largest published so far, has revealed additional mutations in 23 genes previously implicated in intellectual disability or related neurological disorders, as well as single, probably disease-causing variants in 50 novel candidate genes. Proteins encoded by several of these genes interact directly with products of known intellectual disability genes, and many are involved in fundamental cellular processes such as transcription and translation, cell-cycle control, energy metabolism and fatty-acid synthesis, which seem to be pivotal for normal brain development and function.

  6. Consanguineous marriage in PR China: a study in rural Man (Manchu) communities.

    PubMed

    Wang, W; Qian, Cong; Bittles, A H

    2002-01-01

    Although there is a long history of consanguineous marriage in China, information on its prevalence is very limited. The Man (Qing) dynasty ruled China for over 250 years, but no consanguinity studies have been reported on this important population. The objective of the present investigation was to determine the present-day level of consanguineous marriage in the Man community, and to compare the data with existing consanguinity information on other Chinese populations. The study was conducted in a group of 11 rural Man communities in the north-eastern Chinese province of Liaoning. Household-based interviews were conducted by local staff on 513 couples, 418 of whom were Man with another 95 Man-Han inter-ethnic marriages. Basic pedigrees were constructed to determine the biological relationship between each set of spouses. Thirty of the 418 couples were in a consanguineous union, with a mean coefficient of inbreeding alpha = 0.0012. The small population sizes of the study may have contributed to the spatial variation in the patterns of inbreeding. Across generations there was a reduction in consanguineous marriages and an increase in inter-ethnic unions, which paralleled changes in civil marriage regulations.

  7. An Estimate of the Average Number of Recessive Lethal Mutations Carried by Humans

    PubMed Central

    Gao, Ziyue; Waggoner, Darrel; Stephens, Matthew; Ober, Carole; Przeworski, Molly

    2015-01-01

    The effects of inbreeding on human health depend critically on the number and severity of recessive, deleterious mutations carried by individuals. In humans, existing estimates of these quantities are based on comparisons between consanguineous and nonconsanguineous couples, an approach that confounds socioeconomic and genetic effects of inbreeding. To overcome this limitation, we focused on a founder population that practices a communal lifestyle, for which there is almost complete Mendelian disease ascertainment and a known pedigree. Focusing on recessive lethal diseases and simulating allele transmissions, we estimated that each haploid set of human autosomes carries on average 0.29 (95% credible interval [0.10, 0.84]) recessive alleles that lead to complete sterility or death by reproductive age when homozygous. Comparison to existing estimates in humans suggests that a substantial fraction of the total burden imposed by recessive deleterious variants is due to single mutations that lead to sterility or death between birth and reproductive age. In turn, comparison to estimates from other eukaryotes points to a surprising constancy of the average number of recessive lethal mutations across organisms with markedly different genome sizes. PMID:25697177

  8. An estimate of the average number of recessive lethal mutations carried by humans.

    PubMed

    Gao, Ziyue; Waggoner, Darrel; Stephens, Matthew; Ober, Carole; Przeworski, Molly

    2015-04-01

    The effects of inbreeding on human health depend critically on the number and severity of recessive, deleterious mutations carried by individuals. In humans, existing estimates of these quantities are based on comparisons between consanguineous and nonconsanguineous couples, an approach that confounds socioeconomic and genetic effects of inbreeding. To overcome this limitation, we focused on a founder population that practices a communal lifestyle, for which there is almost complete Mendelian disease ascertainment and a known pedigree. Focusing on recessive lethal diseases and simulating allele transmissions, we estimated that each haploid set of human autosomes carries on average 0.29 (95% credible interval [0.10, 0.84]) recessive alleles that lead to complete sterility or death by reproductive age when homozygous. Comparison to existing estimates in humans suggests that a substantial fraction of the total burden imposed by recessive deleterious variants is due to single mutations that lead to sterility or death between birth and reproductive age. In turn, comparison to estimates from other eukaryotes points to a surprising constancy of the average number of recessive lethal mutations across organisms with markedly different genome sizes.

  9. A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.

    PubMed

    Naseer, Muhammad Imran; Rasool, Mahmood; Jan, Mohammed M; Chaudhary, Adeel G; Pushparaj, Peter Natesan; Abuzenadah, Adel M; Al-Qahtani, Mohammad H

    2016-12-15

    PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol (GPI)-anchor maturation. At the surface of the cell this gene is required for proper expression of GPI-anchored proteins. Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation. Mutations in the PGAP2 gene cause hyperphosphatasia mental retardation syndrome-3. We have identified a large consanguineous family from Saudi origin segregating developmental delay, intellectual disability, epilepsy and microcephaly. Whole exome sequencing with 100× coverage was performed on two affected siblings of the family. Data analysis in the patient revealed a novel missense mutation c.191C>T in PGAP2 gene resulting in Alanine to Valine substitution (Ala64Val). The mutation was reconfirmed and validated by subsequent Sanger sequencing method. The mutation was ruled out in 100 unrelated healthy controls. We suggest that this pathogenic mutation disrupts the proper function of the gene proteins resulting in the disease state.

  10. Novel homozygous PANK2 mutation identified in a consanguineous Chinese pedigree with pantothenate kinase-associated neurodegeneration.

    PubMed

    Li, Yan-Fang; Li, Hong-Fu; Zhang, Yan-Bin; Wu, Ji-Min

    2016-08-01

    Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive neurodegenerative disorder resulting from pantothenate kinase 2 (PANK2) gene mutations. It is clinically characterized by early onset of extrapyramidal symptoms, with or without pigmentary retinopathy, optic atrophy and acanthocytosis. The specific radiographic appearance of PKAN is the eye-of-the-tiger sign. However, there are few studies regarding PKAN patients of Chinese Han ancestry. In the present study, a Chinese 20-year-old female with an 8-year history of unsteady walking and involuntary movements is described. Brain magnetic resonance imaging revealed eye-of-the-tiger sign. Following sequencing of PANK2, a novel homozygous c.863C>T (p.P288L) mutation was identified in the patient and heterozygous c.863C>T was identified in her consanguineous parents. The absence of this mutation in the 1000 Genomes database, The Exome Aggregation Consortium, and 200 controls demonstrated that this mutation was probably pathogenic for PKAN in this family. In addition, the PANK2 c.863C>T mutation was predicted to be deleterious by SIFT, disease causing by Mutation Taster and probably damaging by PolyPhen2.

  11. Novel homozygous PANK2 mutation identified in a consanguineous Chinese pedigree with pantothenate kinase-associated neurodegeneration

    PubMed Central

    Li, Yan-Fang; Li, Hong-Fu; Zhang, Yan-Bin; Wu, Ji-Min

    2016-01-01

    Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive neurodegenerative disorder resulting from pantothenate kinase 2 (PANK2) gene mutations. It is clinically characterized by early onset of extrapyramidal symptoms, with or without pigmentary retinopathy, optic atrophy and acanthocytosis. The specific radiographic appearance of PKAN is the eye-of-the-tiger sign. However, there are few studies regarding PKAN patients of Chinese Han ancestry. In the present study, a Chinese 20-year-old female with an 8-year history of unsteady walking and involuntary movements is described. Brain magnetic resonance imaging revealed eye-of-the-tiger sign. Following sequencing of PANK2, a novel homozygous c.863C>T (p.P288L) mutation was identified in the patient and heterozygous c.863C>T was identified in her consanguineous parents. The absence of this mutation in the 1000 Genomes database, The Exome Aggregation Consortium, and 200 controls demonstrated that this mutation was probably pathogenic for PKAN in this family. In addition, the PANK2 c.863C>T mutation was predicted to be deleterious by SIFT, disease causing by Mutation Taster and probably damaging by PolyPhen2. PMID:27446545

  12. Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome

    PubMed Central

    Hoveyda, N.; Shield, J.; Garrett, C.; Chong, W; Beardsall, K.; Bentsi-Enchill, E.; Mallya, H.; Thompson, M.

    1999-01-01

    Classical neonatal diabetes mellitus is defined as hyperglycaemia occurring within the first six weeks of life in term infants. Cerebellar agenesis is rare. We report three cases of neonatal diabetes mellitus, cerebellar hypoplasia/agenesis, and dysmorphism occurring within a highly consanguineous family. This constellation of abnormalities has not previously been described. Two of these cases are sisters and the third case is a female first cousin. The pattern of inheritance suggests this is a previously undescribed autosomal recessive disorder. Prenatal diagnosis of the condition in this family was possible by demonstration of the absence of the cerebellum and severe IUGR.


Keywords: cerebellar agenesis/hypoplasia; neonatal diabetes mellitus; dysmorphic features; autosomal recessive PMID:10507728

  13. Comparative study of combustion product emissions of Pakistani coal briquettes and traditional Pakistani domestic fuels

    SciTech Connect

    Wachter, E.A.; Gammage, R.B.; Haas, J.W. III; Wilson, D.L. ); DePriest, J.C.; Wade, J. ); Ahmad, N.; Sibtain, F.; Zahid Raza, M. )

    1992-10-01

    A comparative emissions study was conducted on combustion products of various solid domestic cooking fuels; the objective was to compare relative levels of organic and inorganic toxic emissions from traditional Pakistani fuels (wood, wood charcoal, and dried animal dung) with manufactured low-rank coal briquettes (Lakhra and Sor- Range coals) under conditions simulating domestic cooking. A small combustion shed 12 m[sup 3] internal volume, air exchange rate 14 h[sup [minus]1] was used to simulate south Asian cooking rooms. 200-g charges of the various fuels were ignited in an Angethi stove located inside the shed, then combusted to completion; effluents from this combustion were monitored as a function of time. Measurements were made of respirable particulates, volatile and semi-volatile organics, CO, SO[sub 2], and NO[sub x]. Overall it appears that emissions from coal briquettes containing combustion amendments (slaked lime, clay, and potassium nitrate oxidizer) are no greater than emissions from traditional fuels, and in some cases are significantly lower; generally, emissions are highest for all fuels in the early stages of combustion.

  14. Comparative study of combustion product emissions of Pakistani coal briquettes and traditional Pakistani domestic fuels

    SciTech Connect

    Wachter, E.A.; Gammage, R.B.; Haas, J.W. III; Wilson, D.L.; DePriest, J.C.; Wade, J.; Ahmad, N.; Sibtain, F.; Zahid Raza, M.

    1992-10-01

    A comparative emissions study was conducted on combustion products of various solid domestic cooking fuels; the objective was to compare relative levels of organic and inorganic toxic emissions from traditional Pakistani fuels (wood, wood charcoal, and dried animal dung) with manufactured low-rank coal briquettes (Lakhra and Sor- Range coals) under conditions simulating domestic cooking. A small combustion shed 12 m{sup 3} internal volume, air exchange rate 14 h{sup {minus}1} was used to simulate south Asian cooking rooms. 200-g charges of the various fuels were ignited in an Angethi stove located inside the shed, then combusted to completion; effluents from this combustion were monitored as a function of time. Measurements were made of respirable particulates, volatile and semi-volatile organics, CO, SO{sub 2}, and NO{sub x}. Overall it appears that emissions from coal briquettes containing combustion amendments (slaked lime, clay, and potassium nitrate oxidizer) are no greater than emissions from traditional fuels, and in some cases are significantly lower; generally, emissions are highest for all fuels in the early stages of combustion.

  15. Endoscopic Gastrocnemius Intramuscular Aponeurotic Recession

    PubMed Central

    Lui, Tun Hing

    2015-01-01

    Gastrocnemius aponeurotic recession is the surgical treatment for symptomatic gastrocnemius contracture. Endoscopic gastrocnemius recession procedures has been developed recently and reported to have fewer complications and better cosmetic outcomes. Classically, this is performed at the aponeurosis distal to the gastrocnemius muscle attachment. We describe an alternative endoscopic approach in which the intramuscular portion of the aponeurosis is released. PMID:26900563

  16. Fort Play Children Recreate Recess

    ERIC Educational Resources Information Center

    Powell, Mark

    2007-01-01

    Recess beckons well before it actually arrives. Its allure can be heard in children's lunchtime conversations as they discuss imaginary roles, plans, alliances and teams, with an obvious appetite for play and its unbounded possibility. For some children, recess provides the most important reasons to come to school. In team sports, games of chase…

  17. Endoscopic Gastrocnemius Intramuscular Aponeurotic Recession.

    PubMed

    Lui, Tun Hing

    2015-10-01

    Gastrocnemius aponeurotic recession is the surgical treatment for symptomatic gastrocnemius contracture. Endoscopic gastrocnemius recession procedures has been developed recently and reported to have fewer complications and better cosmetic outcomes. Classically, this is performed at the aponeurosis distal to the gastrocnemius muscle attachment. We describe an alternative endoscopic approach in which the intramuscular portion of the aponeurosis is released.

  18. Understanding the Influence of the Pakistani Government in South Asia

    DTIC Science & Technology

    2010-11-01

    Bangladesh. 5 state in the world.9 The man who would eventually make this partition a reality was Mohammed Ali Jinnah . His vision was “one nation, one...Constructing Pakistan. He quotes Mohammad Ali Jinnah , the man 3 Dennis Kux, The United States...Balochis, and the myriad of refugees flooding into the state from India…To argue after Partition , as Jinnah did, that Pakistanis were neither Muslim nor

  19. Gingival Recession: Review and Strategies in Treatment of Recession

    PubMed Central

    Pradeep, Koppolu; Rajababu, Palaparthy; Satyanarayana, Durvasula; Sagar, Vidya

    2012-01-01

    One of the most common esthetic concerns associated with the periodontal tissues is gingival recession. Gingival recession is the exposure of root surfaces due to apical migration of the gingival tissue margins; gingival margin migrates apical to the cementoenamel junction. Although it rarely results in tooth loss, marginal tissue recession is associated with thermal and tactile sensitivity, esthetic complaints, and a tendency toward root caries. This paper reviews etiology, consequences, and the available surgical procedures for the coverage of exposed root surfaces, including three case reports. PMID:23082256

  20. Inbreeding in Gredos mountain range (Spain): contribution of multiple consanguinity and intervalley variation.

    PubMed

    Fuster, V; Jiménez, A M; Colantonio, S E

    2001-04-01

    The present paper examines consanguineous marriages occurring between 1874 and 1975 in three valleys (Tormes, Alberche, and Tiétar) in the Sierra de Gredos mountain range, Avila province, Spain. Information was obtained from parish registers of 42 localities, corresponding to a total of 41,696 weddings. Consanguineous marriages were defined as those up to the third degree of consanguinity (second cousins). From 1874 to 1975 the percentage of related mates was 4.45% and the inbreeding coefficient was 0.0011868 (for 1874 to 1917 corresponding figures up to the fourth degree were 16.44% and 0.00 19085, respectively). In order to ascertain the characteristics and evolution of mating patterns in Gredos, the contribution of each degree of kinship was analyzed as a whole and then for each valley separately. Regarding total consanguineous marriages in Gredos, there is a low frequency of uncle-niece matings (0.21%) and a first-second cousin mating ratio (C22/C33) of 0.23 (up to the third degree of consanguinity). Before 1918 multiple matings (i.e., those involving more than a single relationship) accounted for 19.16% of consanguineous marriages (up to the fourth degree). The observed frequencies of multiple consanguineous marriages was, on average, about twice that expected at random, and the proportion of such marriages to total inbreeding was 34.65%. The temporal change of the Gredos inbreeding pattern was characterized by a recent decrease; the highest inbreeding levels correspond to the period from 1915 to 1944. Finally, intervalley differences (maximum inbreeding coefficient in the Tormes, minimum in the Tiétar) are interpreted considering the geography, population size, and population mobility for each valley

  1. Autosomal recessive hypercholesterolemia.

    PubMed

    Soutar, Anne K; Naoumova, Rossitza P

    2004-08-01

    Autosomal recessive hypercholesterolemia (ARH) presents with a clinical phenotype similar to that of classical homozygous familial hypercholesterolemia (FH) caused by defects in the low-density lipoprotein (LDL) receptor gene but is more variable, generally less severe, and more responsive to lipid-lowering therapy than homozygous FH; furthermore, FH is inherited with a dominant pattern. The approximately 50 known affected ARH individuals are mostly of Sardinian or Middle Eastern origin, but rare cases of ARH have occurred worldwide. The physiological defect in ARH is a failure of some, but not all, cell types to mediate LDL receptor-dependent internalization of LDL and is caused by mutations in the gene for a putative adaptor protein called ARH. In affected cells, the LDL receptor gene is normal but LDL receptor protein accumulates at the cell surface; this also occurs in livers of recombinant mice lacking ARH, providing an explanation for the failure of clearance of LDL from plasma in ARH patients. The structural features of the ARH protein and its capacity to interact with the internalization sequence of the LDL receptor, plasma membrane phospholipids, and the clathrin endocytic machinery suggest that it plays a key role in the LDL receptor pathway.

  2. Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme

    PubMed Central

    Kumar, Ravindra; Arya, Vandana; Agarwal, Sarita

    2015-01-01

    Mutation spectrum varies significantly in different parts and different ethnic groups of India. Social factors such as preference to marry within the community and among 1st degree relatives (consanguinity) play an important role in impeding the gene pool of the disease within the community and so in society by and large. The present paper discusses the role of consanguinity in profiling of beta thalassemia mutation, and thus the approach for prenatal screening and prevention based awareness programme. Clinically diagnosed 516 cases of beta thalassemia were screened at molecular level. A detailed clinical Proforma was recorded with the information of origin of the family, ethnicity, and consanguinity. The present study reports that subjects originating from Uttar Pradesh, Uttarakhand, Bihar, and Jharkhand have c.92+5G>C and c.124_127delTTCT mutation as the commonest mutation compared to the subjects hailing from Madhya Pradesh and Chhattisgarh and Nepal where sickle mutation was found more common. In 40 consanguineous unions more common and specific beta mutations with higher rate of homozygosity have been reported. This consanguinity-based data helps not only in deciding target oriented prenatal diagnostic strategies but also in objective based awareness programmes in prevention of thalassemia major birth. PMID:26576156

  3. Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions

    PubMed Central

    Shihab, Hashem A.; Rodriguez, Santiago; Gaunt, Tom R.; Day, Ian N.M.

    2016-01-01

    Summary Consanguineous offspring have elevated levels of homozygosity. Autozygous stretches within their genome are likely to harbour loss of function (LoF) mutations which will lead to complete inactivation or dysfunction of genes. Studying consanguineous offspring with clinical phenotypes has been very useful for identifying disease causal mutations. However, at present, most of the genes in the human genome have no disorder associated with them or have unknown function. This is presumably mostly due to the fact that homozygous LoF variants are not observed in outbred populations which are the main focus of large sequencing projects. However, another reason may be that many genes in the genome—even when completely “knocked out,” do not cause a distinct or defined phenotype. Here, we discuss the benefits and implications of studying consanguineous populations, as opposed to the traditional approach of analysing a subset of consanguineous families or individuals with disease. We suggest that studying consanguineous populations “as a whole” can speed up the characterisation of novel gene functions as well as indicating nonessential genes and/or regions in the human genome. We also suggest designing a single nucleotide variant (SNV) array to make the process more efficient. PMID:27000383

  4. Consanguinity and its sociodemographic differentials in Bhimber District, Azad Jammu and Kashmir, Pakistan.

    PubMed

    Jabeen, Nazish; Malik, Sajid

    2014-06-01

    Kashmiri population in the northeast of Pakistan has strong historical, cultural and linguistic affinities with the neighbouring populations of upper Punjab and Potohar region of Pakistan. However, the study of consanguineous unions, which are customarily practised in many populations of Pakistan, revealed marked differences between the Kashmiris and other populations of northern Pakistan with respect to the distribution of marriage types and inbreeding coefficient (F). The current descriptive epidemiological study carried out in Bhimber district of Mirpur division, Azad Jammu and Kashmir, Pakistan, demonstrated that consanguineous marriages were 62% of the total marriages (F=0.0348). First-cousin unions were the predominant type of marriages and constituted 50.13% of total marital unions. The estimates of inbreeding coefficient were higher in the literate subjects, and consanguinity was witnessed to be rising with increasing literacy level. Additionally, consanguinity was observed to be associated with ethnicity, family structure, language, and marriage arrangements. Based upon these data, a distinct sociobiological structure, with increased stratification and higher genomic homozygosity, is expected for this Kashmiri population. In this communication, we present detailed distribution of the types of marital unions and the incidences of consanguinity and inbreeding coefficient (F) across various sociodemographic strata of Bhimber/Mirpuri population. The results of this study would have implication not only for other endogamous populations of Pakistan but also for the sizeable Kashmiri community immigrated to Europe.

  5. Challenges in the care for consanguineous couples: an exploratory interview study among general practitioners and midwives

    PubMed Central

    2012-01-01

    Background It is often suggested that an effort must be made to increase awareness among consanguineous couples of their reproductive risk, and to refer them for genetic counseling if needed. Primary care professionals are considered most appropriate for addressing the subject and identifying couples at risk during consultations in their practice. This Dutch study aims to explore the experiences, attitudes and beliefs of such professionals regarding their care for consanguineous couples. Methods Sixteen semi-structured interviews were conducted with midwives and general practitioners. Results Although most primary care professionals considered it their task to inform couples about the risks of consanguinity, during consultations the topic was generally only briefly touched upon and quickly abandoned. Important reasons for this were professionals’ beliefs about religious and social values of couples, their low perception of the couples’ reproductive risk and expected limited feasibility of referral. Feelings of embarrassment regarding addressing consanguinity did not seem to play a significant role. Conclusions Primary care professional beliefs about their clients’ religious and social values, their attitudes toward the risk, and perceived limited options for referral seem to conflict with the professional norm to address the topic of consanguinity. PMID:23102514

  6. Pakistani Students' Perceptions about Use of the Internet in Their Academic Activities

    ERIC Educational Resources Information Center

    Ali, Zarqa S.

    2014-01-01

    The aim of the study is to explore Pakistani university students' use of the Internet in their studies and their perceptions of online academic life. Findings show that Internet use for academic purposes has both positive and negative aspects. There is a gender difference in Pakistani students' perceptions about the use of the Internet in their…

  7. The Study of Workplace Learning and Performance Competencies among Pakistani Practitioners

    ERIC Educational Resources Information Center

    Sherwani, Naseem Saeed

    2010-01-01

    The purpose of this study was to investigate Pakistani Workplace Learning and Performance (WLP) practitioners' perceptions of the importance of WLP competencies at the present time and in the next five years. The goals were to: (1) identify and characterize a profile of Pakistani WLP practitioners; (2) analyze perceptions of the current and future…

  8. Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.

    PubMed

    Greene, V Bennouna; Stoetzel, C; Pelletier, V; Perdomo-Trujillo, Y; Liebermann, L; Marion, V; De Korvin, H; Boileau, C; Dufier, J L; Dollfus, H

    2010-03-01

    Ectopia lentis (EL) is a zonular disease where alteration of the zonular fibers leads progressively to lens dislocation. It is most often associated with systemic diseases such as Marfan syndrome, Weill-Marchesani syndrome or homocystinuria. Isolated non syndromic ectopia lentis (IEL) is reported in families with autosomal inheritance, with dominant forms being more common than recessive. LTBP2 truncating mutations have been described as a cause of autosomal recessive ectopia lentis as a primary or secondary feature in patients showing ocular (eg, glaucoma) or extraocular manifestations (eg, Marfanoid habitus). Recently, ADAMTSL4 has been shown to be responsible for isolated autosomal recessive ectopia lentis in an inbred family. Herein we show a consanguineous family that carries a novel homozygous splice mutation IVS4-1G>A/IVS4-1G>A in ADAMTSL4 responsible for isolated autosomal recessive EL, thus confirming the involvement of this gene in this condition and underlining the major role of ADAMTS proteases in zonular fibers homeostasis.

  9. An empirical analysis of the effects of consanguineous marriages on economic development.

    PubMed

    Bildirici, Melike; Kökdener, Meltem; Ersin, Oezgür ömer

    2010-01-01

    In this study, development experiences toward economic development are investigated to provide an alternative analysis of economic development, human capital, and genetic inheritance in the light of consanguineous marriages. The countries analyzed in the study are discussed in accordance with consanguineous marriage practices and classified by their per capita gross domestic product (GDP) growth. A broad range of countries are analyzed in the study. Arab countries that experienced high rates of growth in their gross national income during the twentieth century but failed to fulfill adequate development measures as reflected in the growth in national income, countries undergoing transition from tight government regulation to free market democracy, and African nations that have experienced complications in the process of development show important differences in the process of economic development. It is shown that the countries that have reached high average development within the context of per capita GDP have overcome problems integral to consanguineous marriage.

  10. Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

    PubMed

    Cauwels, R G E C; De Coster, P J; Mortier, G R; Marks, L A M; Martens, L C

    2005-08-01

    The follow-up history and oral findings in two brothers from consanguineous parents suggest that the association of dentinogenesis imperfecta (DI), delayed tooth eruption, mild mental retardation, proportionate short stature, sensorineural hearing loss and dysmorphic facies may represent a new syndrome with autosomal recessive inheritance. Histological examination of the dentin matrix of a permanent molar from one of the siblings reveals morphological similarities with defective dentinogenesis as presenting in patients affected with Osteogenesis Imperfecta (OI), a condition caused by deficiency of type I collagen. A number of radiographic and histological characteristics, however, are inconsistent with classical features of DI. These findings suggest that DI may imply greater genetical heterogeneity than currently assumed.

  11. Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: A newly described autosomal recessive disorder

    SciTech Connect

    Chudley, A.E.; McCullough, C.; McCullough, D.W.

    1997-01-31

    We identified a Canadian-Mennonite family in which a brother and sister have hydrocephalus due to obstruction at the foramen of Monro and profound bilateral sensorineural deafness. This appears to be a unique combination of anomalies and, to our knowledge, has not been reported previously. Both parents and a brother are phenotypically normal. The parents are second cousins. Thus, on the basis of consanguinity, affected sibs of both sexes, and in the absence of evidence for intrauterine infections or other adverse perinatal events, this syndrome is likely inherited in an autosomal recessive fashion. 37 refs., 5 figs.

  12. U.S.-Pakistani Nuclear Relations: A Strategic Survey

    DTIC Science & Technology

    2014-04-01

    partition ,  with   three  Indo-­‐Pakistani  wars  (1947,  1965,  and  1971... Jinnah  Institute  roundtable,  "Interrupted  &  Interruptible:  Does  Track  II  Work   in  the  Indo-­‐Pakistan...unresolved   ideological  disagreement  of  the  1947   partition .    India  has  always  opposed  the  “two  nation  

  13. Mutations in the hairless gene underlie APL in three families of Pakistani origin

    PubMed Central

    Kraemer, Liv; Wajid, Muhammad; Shimomura, Yutaka; Christiano, Angela M.

    2009-01-01

    Summary Background Atrichia with papular lesions (APL) (OMIM#209500) is a rare autosomal recessively inherited form of irreversible alopecia characterized by papular lesions of keratin-filled cysts on various regions of the body. Males and females are equally affected and present with a distinct pattern of total hair loss on scalp, axilla and body. It begins shortly after birth with the development of hair loss, and patients are normally devoid of eyelashes and eyebrows. Mutations in the hairless (HR) gene have been previously shown to be responsible for APL. Objective In this study, we studied the molecular basis of APL in three unrelated families of Pakistani origin. Method Molecular analysis of the HR genes was performed on genomic DNA from probands and family members. Results DNA sequencing of the HR gene in family A revealed a novel homozygous 2 bp deletion in exon 6 leading to a frameshift and a downstream premature termination codon in exon 8 (1782-83delAG). In family B, we identified a novel homozygous deletion of a G nucleotide at the exon 15–intron 15 boundary, termed 3097delG. Family C carries a previously reported missense mutation consisting of an A-to-G transition at nucleotide 276 resulting in the mutation N970S in exon 14. Conclusion Two mutations identified in this study are novel mutations in the HR gene and extend the body of evidence implicating the hairless gene family in the pathogenesis of human skin disorders. The one previously reported mutation suggests it may represent a recurrent mutation, or alternatively, an allele that is widely dispersed around the world. PMID:18164595

  14. Mutations of the tyrosinase gene produce autosomal recessive ocular albinism

    SciTech Connect

    King, R.A.; Summers, C.G.; Oetting, W.S.

    1994-09-01

    Albinism has historically been divided into ocular (OA) and oculocutaneous (OCA) types based on the presence or absence of clinically apparent skin and hair involvement in an individual with the ocular features of albinism. The major genes for OCA include the tyrosinase gene in OCA1 and the P gene in OCA2. X-linked and autosomal recessive OA have been described and the responsible genes have not been identified. We now present six Caucasian individuals who have the phenotype of autosomal recessive OA but who have OCA1 as shown by the presence of mutations of the tyrosinase. They had white or very light hair and white skin at birth, and cutaneous pigment developed in the first decade of life. At ages ranging from 1.5-23 years, hair color was dark blond to light brown. The skin had generalized pigment and well developed tan was present on the exposed arm and face skin of four. Iris pigment was present and iris translucency varied. Molecular analysis of the tyrosinase gene, using PCR amplification and direct di-deoxy sequencing showed the following mutations: E398Z/E398Q, P406S/g346a, R402E/T373K, ?/D383N, and H211N/T373K. The homozygous individual was not from a known consanguineous mating. T373K is the most common tyrosinase gene mutation in our laboratory. Three of these mutations are associated with a total loss of tyrosinase activity (g346a splice-site, T373K, and D383N), while four are associated with residual enzyme activity (H211N, R402E, E398Q, and P406S). These studies show that mutations of the tyrosinase gene can produce the phenotype of autosomal recessive OA in an individual who has normal amounts of cutaneous pigment and the ability to tan after birth. This extends the phenotypic range of OCA1 to normal cutaneous pigment after early childhood, and suggest that mutations of the tyrosinase gene account for a significant number of individuals with autosomal recessive OA.

  15. Objective hydrograph baseflow recession analysis

    NASA Astrophysics Data System (ADS)

    Thomas, Brian F.; Vogel, Richard M.; Famiglietti, James S.

    2015-06-01

    A streamflow hydrograph recession curve expresses the theoretical relationship between aquifer structure and groundwater outflow to a stream channel. That theoretical relationship is often portrayed empirically using a recession plot defined as a plot of ln(-dQ/dt) versus ln(Q), where Q is streamflow discharge. Such hydrograph recession plots are commonly used to estimate recession parameters, aquifer properties and for evaluating alternative hydrologic hypotheses. We introduce a comprehensive and objective approach to analyze baseflow recessions with innovations including the use of quantile regression, efficient and objective numerical estimation of dQ/dt, inclusion of groundwater withdrawals, and incorporation of seasonal effects. We document that these innovations when all combined, lead to significant improvements, over previous studies, in our ability to discern the theoretical behavior of stream aquifer systems. A case study reveals that our methodology enables us to reject the simple linear reservoir hypothesis of stream aquifer interactions for watersheds in New Jersey and results in improved correlations between low flow statistics and aquifer properties for those same watersheds.

  16. Consanguinity and the sib-pair method: An approach using identity by descent between and within individuals

    SciTech Connect

    Genin, E.; Clerget-Darpoux, F.

    1996-11-01

    To test for linkage between a trait and a marker, one can consider identical marker alleles in related individuals, for instance, sibs. For recessive diseases, it has been shown that some information may be gained from the identity by descent (IBD) of the two alleles of an affected inbred individual at the marker locus. The aim of this paper is to extend the sib-pair method of linkage analysis to the situation of sib pairs sampled from consanguineous populations. This extension takes maximum advantage of the information provided by both the IBD pattern between sibs and allelic identity within each sib of the pair. This is possible through the use of the condensed identity coefficients. Here, we propose a new test of linkage based on a {Chi}{sup 2}. We compare the performance of this test with that of the classical {Chi}{sup 2} test based on the distribution of sib pairs sharing 0, 1, or 2 alleles IBD. For sib pairs from first-cousin matings, the proposed test can better detect the role of a disease-susceptibility (DS) locus. Its power is shown to be greater than that of the classical test, especially for models where the DS allele may be common and incompletely penetrant; that is to say for situations that may be encountered in multifactorial diseases. A study of the impact of inbreeding on the expected proportions of sib pairs sharing 0, 1, or 2 alleles IBD is also performed here. Ignoring inbreeding, when in fact inbreeding exists, increases the rate of type I errors in tests of linkage. 21 refs., 8 figs., 9 tabs.

  17. An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

    PubMed

    Ellard, Sian; Kivuva, Emma; Turnpenny, Peter; Stals, Karen; Johnson, Matthew; Xie, Weijia; Caswell, Richard; Lango Allen, Hana

    2015-03-01

    Rare disorders resulting in prenatal or neonatal death are genetically heterogeneous. For some conditions, affected fetuses can be diagnosed by ultrasound scan, but this is not usually possible until mid-gestation. There is often limited fetal DNA available for investigation. We investigated a strategy for diagnosing autosomal recessive lethal disorders in non-consanguineous pedigrees with multiple affected fetuses. Exome sequencing was performed to identify genes where each parent is heterozygous for a rare non-synonymous-coding or splicing variant. Putative pathogenic variants were tested for cosegregation in affected fetuses and unaffected siblings. In eight couples of European ancestry, we found on average 1.75 genes (range 0-4) where both parents were heterozygous for rare potentially deleterious variants. A proof-of-principle study detected heterozygous DYNC2H1 variants in a couple whose five fetuses had short-rib polydactyly. Prospective analysis of two couples with multiple pregnancy terminations for fetal akinesia syndrome was performed and a diagnosis was obtained in both the families. The first couple were each heterozygous for a previously reported GLE1 variant, p.Arg569His or p.Val617Met; both were inherited by their two affected fetuses. The second couple were each heterozygous for a novel RYR1 variant, c.14130-2A>G or p.Ser3074Phe; both were inherited by their three affected fetuses but not by their unaffected child. Biallelic GLE1 and RYR1 disease-causing variants have been described in other cases with fetal akinesia syndrome. We conclude that exome sequencing of parental samples can be an effective tool for diagnosing lethal recessive disorders in outbred couples. This permits early prenatal diagnosis in future pregnancies.

  18. An exome sequencing strategy to diagnose lethal autosomal recessive disorders

    PubMed Central

    Ellard, Sian; Kivuva, Emma; Turnpenny, Peter; Stals, Karen; Johnson, Matthew; Xie, Weijia; Caswell, Richard; Lango Allen, Hana

    2015-01-01

    Rare disorders resulting in prenatal or neonatal death are genetically heterogeneous. For some conditions, affected fetuses can be diagnosed by ultrasound scan, but this is not usually possible until mid-gestation. There is often limited fetal DNA available for investigation. We investigated a strategy for diagnosing autosomal recessive lethal disorders in non-consanguineous pedigrees with multiple affected fetuses. Exome sequencing was performed to identify genes where each parent is heterozygous for a rare non-synonymous-coding or splicing variant. Putative pathogenic variants were tested for cosegregation in affected fetuses and unaffected siblings. In eight couples of European ancestry, we found on average 1.75 genes (range 0–4) where both parents were heterozygous for rare potentially deleterious variants. A proof-of-principle study detected heterozygous DYNC2H1 variants in a couple whose five fetuses had short-rib polydactyly. Prospective analysis of two couples with multiple pregnancy terminations for fetal akinesia syndrome was performed and a diagnosis was obtained in both the families. The first couple were each heterozygous for a previously reported GLE1 variant, p.Arg569His or p.Val617Met; both were inherited by their two affected fetuses. The second couple were each heterozygous for a novel RYR1 variant, c.14130-2A>G or p.Ser3074Phe; both were inherited by their three affected fetuses but not by their unaffected child. Biallelic GLE1 and RYR1 disease-causing variants have been described in other cases with fetal akinesia syndrome. We conclude that exome sequencing of parental samples can be an effective tool for diagnosing lethal recessive disorders in outbred couples. This permits early prenatal diagnosis in future pregnancies. PMID:24961629

  19. Sickness, dreams and moral selfhood among migrant Pakistani Muslims.

    PubMed

    Qureshi, Kaveri

    2010-12-01

    This paper draws from two years of fieldwork investigating the social course of illness among Pakistani Muslims in East London, exploring how chronic illness is communicated and negotiated in local worlds disrupted by migrancy. It examines episodic short stories about dreams, premonitions and uncanny coincidences that were prominent within the illness narratives of migrant Pakistani Muslims, recalling and throwing light on complex questions concerning subjective constructions of misfortune, the personal and social meanings of illness and the relationships between narrative and selfhood. The ethnography identifies a strong normative context of communication about ill health and bad news, within which revelation through the mode of the supernatural takes on added significance. Recurrent motifs in the dreams emphasize the connectedness between family members scattered across migratory contexts, and the reawakening of moral obligations in families. Whilst medical anthropology has understood descriptions of dreams and other uncanny experiences as 'subjunctivising tactics' serving to maintain alternative plots about the source and outcome of illness, in the Islamic context the narrating of supernatural encounters can have transformative effects, re-organising praxis and conferring legitimacy to certain forms of moral selfhood. The paper therefore argues that the notion of the 'subjunctive mode' imposes the analysts' own system of logic and that there is a need to understand the interpretive frameworks present in the illness narratives in their own terms.

  20. Algebra, Home Mortgages, and Recessions

    ERIC Educational Resources Information Center

    Mariner, Jean A. Miller; Miller, Richard A.

    2009-01-01

    The current financial crisis and recession in the United States present an opportunity to discuss relevant applications of some topics in typical first-and second-year algebra and precalculus courses. Real-world applications of percent change, exponential functions, and sums of finite geometric sequences can help students understand the problems…

  1. Firms Still Training Despite Recession

    ERIC Educational Resources Information Center

    Felstead, Alan; Green, Francis; Jewson, Nick

    2011-01-01

    It is commonly assumed that company training is one of the first casualties in times of recession. Falling recruitment, pressures to cut costs and a focus on short-term survival force businesses to put training on the backburner. Expecting the worst, the UK Commission for Employment and Skills (UKCES), the Confederation of British Industry (CBI)…

  2. 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.

  3. Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient.

    PubMed

    Orrico, A; Galli, L; Zappella, M; Orsi, A; Hayek, G

    2001-02-01

    In this report, we present a 14-year-old girl, born to consanguineous parents, who presented with severe mental retardation, hypotonia, short stature, and congenital joint contractures. The craniofacial features were scaphocephaly, thin/long and immobile face, marked hypoplasia of the midface, temporal narrowness, blepharophimosis, palpebral ptosis, and strabismus. The combination of such a distinctive craniofacial appearance and psychomotor retardation allows us to recognize a new case of the Marden-Walker syndrome. Our patient represents one of the rare cases in which consanguineous mating supports the autosomal-recessive pattern of inheritance of this condition. Furthermore, through refining the phenotype of a surviving patient, this report may contribute to a better recognition of this disorder in older affected children.

  4. Mardini-Nyhan association (lung agenesis, congenital heart, and thumb anomalies): three new cases and possible recurrence in a sib-is there a distinct recessive syndrome?

    PubMed

    Hastings, Rob; Harding, David; Donaldson, Alan; Liebling, Rachel; Hayes, Alison; Kraus, Alison; Joss, Shelagh; Narayanaswamy, Shuba; Turnpenny, Peter; Smithson, Sarah

    2009-12-01

    In 1985, Mardini and Nyhan described three patients from consanguineous families with unilateral complete/partial lung agenesis, congenital cardiac defects, and ipsilateral thumb anomalies. Although there have been many reports of lung agenesis with other malformations, especially hemifacial microsomia and radial ray anomalies, very few demonstrate this triad of defects. We describe three patients with the Mardini-Nyhan association which may represent a distinct entity, although this remains uncertain at present. A fourth patient is also described, the sister of one of the other patients, with complex congenital cardiac disease and bilateral lung lobation abnormalities. This is the first reported incidence of a possible recurrence within a family and suggests, together with the consanguinity observed by Mardini and Nyhan, that recessive inheritance should be considered in genetic counseling for this disorder.

  5. Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

    PubMed Central

    Hammer, Monia B.; Eleuch-Fayache, Ghada; Schottlaender, Lucia V.; Nehdi, Houda; Gibbs, J. Raphael; Arepalli, Sampath K.; Chong, Sean B.; Hernandez, Dena G.; Sailer, Anna; Liu, Guoxiang; Mistry, Pramod K.; Cai, Huaibin; Shrader, Ginamarie; Sassi, Celeste; Bouhlal, Yosr; Houlden, Henry; Hentati, Fayçal; Amouri, Rim; Singleton, Andrew B.

    2013-01-01

    Autosomal-recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders with more than 20 different forms currently recognized, many of which are also associated with increased tone and some of which have limb spasticity. Gaucher disease is a lysosomal storage disease resulting from a defect in the enzyme acid β-glucosidase 1. β-glucosidase 2 is an enzyme with similar glucosylceramidase activity but to date has not been associated with a monogenic disorder. We studied four unrelated consanguineous families of Tunisian decent diagnosed with cerebellar ataxia of unknown origin. We performed homozygosity mapping and whole-exome sequencing in an attempt to identify the genetic origin of their disorder. We were able to identify mutations responsible for autosomal-recessive ataxia in these families within the gene encoding β-glucosidase 2, GBA2. Two nonsense mutations (c.363C>A [p.Tyr121∗] and c.1018C>T [p.Arg340∗]) and a substitution (c.2618G>A [p.Arg873His]) were identified, probably resulting in nonfunctional enzyme. This study suggests GBA2 mutations are a cause of recessive spastic ataxia and responsible for a form of glucosylceramide storage disease in humans. PMID:23332917

  6. Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.

    PubMed

    Nayak, Gowri; Varga, Lukas; Trincot, Claire; Shahzad, Mohsin; Friedman, Penelope L; Klimes, Iwar; Greinwald, John H; Riazuddin, S Amer; Masindova, Ivica; Profant, Milan; Khan, Shaheen N; Friedman, Thomas B; Ahmed, Zubair M; Gasperikova, Daniela; Riazuddin, Sheikh; Riazuddin, Saima

    2015-04-01

    Pathogenic mutations of MARVELD2, encoding tricellulin, a tricelluar tight junction protein, cause autosomal recessive non-syndromic hearing loss (DFNB49) in families of Pakistan and Czech Roma origin. In fact, they are a significant cause of prelingual hearing loss in the Czech Roma, second only to GJB2 variants. Previously, we reported that mice homozygous for p.Arg497* variant of Marveld2 had a broad phenotypic spectrum, where defects were observed in the inner ear, heart, mandibular salivary gland, thyroid gland and olfactory epithelium. The current study describes the types and frequencies of MARVELD2 alleles and clinically reexamines members of DFNB49 families. We found that MARVELD2 variants are responsible for about 1.5 % (95 % CI 0.8-2.6) of non-syndromic hearing loss in our cohort of 800 Pakistani families. The c.1331+2T>C allele is recurrent. In addition, we identified a novel large deletion in a single family, which appears to have resulted from non-allelic homologous recombination between two similar Alu short interspersed elements. Finally, we observed no other clinical manifestations co-segregating with hearing loss in DFNB49 human families, and hypothesize that the additional abnormalities in the Marveld2 mutant mouse indicates a critical non-redundant function for tricellulin in other organ systems.

  7. Chance for India to stop the Pakistani bomb

    SciTech Connect

    Spector, L.S.

    1987-11-01

    India would be far better off it, by adopting cautious restraints on its own nuclear activities, it could obtain firm limits on Pakistan's. Moreover, since the US has been long seeking such restraints from India, New Delhi might be able to strike a bargain under which the United States, in return for India's gesture, would withhold the sale of certain conventional weapon systems to Pakistan that India finds threatening. Thus India could improve its position on both the nuclear and conventional fronts. In November 1986, Brazil invited Argentine nuclear technicians to visit a key classified nuclear installation in Sao Paulo. This July, Argentina reciprocated by permitting Brazilian President Jose Sarney to visit its most sensitive nuclear facility. These events demonstrate that, with far-sighted statesmanship, regional nuclear rivalries need not be irreversible. Indo-Pakistani nuclear tensions could be greatly eased if Prime Minister Gandhi and President Zia seize the opportunity now at hand.

  8. Antipyretic studies on some indigenous Pakistani medicinal plants: II.

    PubMed

    Ikram, M; Khattak, S G; Gilani, S N

    1987-01-01

    Eight Pakistani medicinal plants were investigated for antipyretic activity in rabbits receiving subcutaneous yeast injections. Hexane- and chloroform-soluble extracts of Aconitum napellus stems, Corchorus depressus whole plant and Gmelina asiatica roots exhibited prominent oral antipyretic activity while insignificant antipyretic effects were found in the hexane- and chloroform-soluble portions of Melia azadirachta seeds, Tinospora cordifolia stems and Vitex trifolia seeds. No antipyretic actions whatsoever were produced by extracts of A. heterophyllum roots and Hedysarum alhagi aerial parts. Toxicity studies revealed no noteworthy toxic or adverse effects for any of the above plant extracts up to the highest oral doses of 1.6 g/kg except in the case of A. napellus.

  9. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping

    SciTech Connect

    Kruglyak, L.; Daly, M.J.; Lander, E.S. |

    1995-02-01

    Homozygosity mapping is a powerful strategy for mapping rare recessive traits in children of consanguineous marriages. Practical applications of this strategy are currently limited by the inability of conventional linkage analysis software to compute, in reasonable time, multipoint LOD scores for pedigrees with inbreeding loops. We have developed a new algorithm for rapid multipoint likelihood calculations in small pedigrees, including those with inbreeding loops. The running time of the algorithm grows, at most, linearly with the number of loci considered simultaneously. The running time is not sensitive to the presence of inbreeding loops, missing genotype information, and highly polymorphic loci. We have incorporated this algorithm into a software package, MAPMAKER/HOMOZ, that allows very rapid multipoint mapping of disease genes in nuclear families, including homozygosity mapping. Multipoint analysis with dozens of markers can be carried out in minutes on a personal workstation. 23 refs., 4 figs., 1 tab.

  10. New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect

    PubMed Central

    Zaki, Maha S; Salam, Ghada M H Abdel; Saleem, Sahar N; Dobyns, William B; Issa, Mahmoud Y; Sattar, Shifteh; Gleeson, Joseph G

    2011-01-01

    We identified a two-branch consanguineous family in which four affected members (three females and one male) presented with constitutive growth delay, severe psychomotor retardation, microcephaly, cerebellar hypoplasia, and second-degree heart block. They also shared distinct facial features and similar appearance of their hands and feet. Childhood-onset insulin-dependent diabetes mellitus developed in one affected child around the age of 9 years. Molecular analysis excluded mutations in potentially related genes such as PTF1A, EIF2AK3, EOMES, and WDR62. This condition appears to be unique of other known conditions, suggesting a unique clinical entity of autosomal recessive mode of inheritance. © 2011 Wiley Periodicals, Inc. PMID:22002884

  11. Autosomal recessive peripheral sensory neuropathy in 3 non-Ashkenazi Jewish families.

    PubMed Central

    Tamari, I; Goodman, R M; Sarova, I; Hertz, M; Adar, R; Zvibach, T

    1980-01-01

    Three unrelated Oriental Jewish families with a total of eight subjects with progressive hereditary sensory neuropathy are reported. The parents were all unaffected and because of parental consanguinity in each of the three families it is postulated that this rare neurological disorder is transmitted in an autosomal recessive manner. In one family both parents showed an abnormal response to pain stimulation with normal motor and sensory nerve conduction velocity. This response may be an expression of the carrier state for this hereditary disease. Only five other families (non-Jewish) have been reported as having this form of peripheral hereditary sensory neuropathy. These observations suggest that one type, the progressive form, of peripheral hereditary sensory neuropathy may be more common in Oriental Jews. Images PMID:6937618

  12. Differences in Physical Activity during School Recess

    ERIC Educational Resources Information Center

    Ridgers, Nicola D.; Saint-Maurice, Pedro F.; Welk, Gregory J.; Siahpush, Mohammad; Huberty, Jennifer

    2011-01-01

    Background: School recess provides a daily opportunity for physical activity engagement. The purpose of this study was to examine physical activity levels during recess by gender, ethnicity, and grade, and establish the contribution of recess to daily school physical activity levels. Methods: Two hundred and ten children (45% boys) from grades 3…

  13. 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.

  14. Institutional Protocol to Manage Consanguinity Detected by Genetic Testing in Pregnancy in a Minor

    PubMed Central

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

    2015-01-01

    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

  15. Rate of Parental Consanguineous Marriage among Patients with Visual Impairments in Turkey

    PubMed Central

    AKKAYA, Sezen

    2016-01-01

    We aimed to describe the causes, characteristics, and rate of parental consanguineous marriage associated with patients with visual impairments in Turkey. This study involved 236 patients with visual impairments. The 10th revision of the International Classification of Diseases was used to categorize the causes of visual impairments (based on the main cause in both eyes). The mean age of the patients was 38.5 ± 24.2 years (range, 6–95 years), and most were in the 15–30-year age group (35.6%). There were more male patients (65%) than female patients. Blindness, severe visual impairment, and mild to moderate visual impairment were observed in 30 (12.7%), 84 (35.6%), and 122 (51.6%) patients, respectively. Choroidal and retinal diseases were identified as the main underlying cause of visual impairment (62.7%), followed by nystagmus (23.7%), optic tract and nerve diseases (11.0%), congenital cataracts (0.8%), and glaucoma (1.7%). Parental consanguinity was present for 26.3% of the patients, and it was significantly more common in the 15–30-year age group (50%) compared to the other age groups. In Turkey, the main cause of visual impairment was choroid and retinal diseases in all the age groups above 14 years, while nystagmus was the most common cause in the age group below 15 years. Parental consanguinity was significantly higher among the patients with macular dystrophy and those with retinitis pigmentosa than with retinopathy of prematurity, optic nerve diseases, age-related macular degeneration, and diabetic retinopathy. Genetic factors are known to be involved in the development of these diseases, indicating that the issue of consanguineous marriage remains a problem in Turkey. PMID:28293658

  16. Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin

    PubMed Central

    Kim, Hyunmi; Wajid, Muhammad; Kraemer, Liv; Shimomura, Yutaka; Christiano, Angela M.

    2012-01-01

    (1) Background Atrichia with papular lesions (APL) is a rare autosomal recessive form of inherited alopecia. Affected individuals present with a distinct pattern of total hair loss on the scalp, axilla and body shortly after birth and are essentially devoid of eyelashes and eyebrows. This form of hair loss is irreversible and the histology is consistent with an absence of mature hair follicles. In addition to total atrichia, APL patients also present with papules and follicular cysts filled with cornified material. Mutations in the Hairless (HR) gene have been shown to underlie APL. (2) Objective Here, we studied five unrelated large Pakistani families with clinical manifestations of APL. (3) Methods Based on previous reports of HR mutations in APL, we performed direct DNA sequencing analysis. (4) Results DNA sequencing of the HR gene in APL patients revealed three novel nonsense mutations in five unrelated families. All affected individuals were homozygous for a nonsense mutation due to C-to-T transitions at different positions in the amino acid sequence. Two families carry the mutation Q323X (CAG-TAG) in exon 3, two families harbor the mutation Q502X (CAG-TAG) in exon 6, and one family had a mutation at R940X (CGA-TGA) in exon 14. Haplotype analysis revealed that all affected individuals of both APL1 and APL16 families were homozygous for the same haplotype, and likewise, the mutation in families APL2 and APL19 was on the the same haplotype. (5) Conclusions We report three novel nonsense mutations in the HR gene in APL. Two of the newly identified mutations, Q323X and Q502X, were found to be shared between unrelated families and marker analysis confirmed an identical homozygous haplotype for APL1 and APL16, and for APL2 and APL19. These findings suggest that Q323X and Q502X did not arise independently, but instead appear to have been propagated in the population. Collectively, these findings contribute further evidence for the involvement of hairless mutations in

  17. Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.

    PubMed

    Abiri, Maryam; Talebi, Saeed; Uitto, Jouni; Youssefian, Leila; Vahidnezhad, Hassan; Shirzad, Tina; Salehpour, Shadab; Zeinali, Sirous

    2016-10-01

    Most inborn errors of metabolism (IEMs) are inherited in an autosomal recessive manner. IEMs are one of the major concerns in Iran due to its extensive consanguineous marriages. Herein, we report two patients with two co-existent IEMs: a girl affected by classic phenylketonuria (PKU) and maple syrup urine disease (MSUD) and a male patient affected with Sandhoff disease and PKU, where Sandhoff disease was suspected due to the presence of a cherry-red spot in the eyes at 6 months which is unrelated to PKU. Sequencing of candidate genes in the first patient revealed one novel and three recurrent compound heterozygous mutations of p.Ser231Pro and p.Ala300Ser in the PAH gene and p.Glu330Lys and p.Arg170Cys mutations in the BCKDHB gene. Genetic testing results in the second patient showed previously reported homozygous mutations of p.Arg261Gln in the PAH and p.Arg533Cys mutation in the HEXB gene. Genetic testing confirmed the clinical diagnosis of both diseases in both patients. To the best of our knowledge; this is the first report of the co-existence of two distinct genetic disorders in two individuals from Iran. Co-existent different IEMs in patients complicated the clinical diagnosis and management of the diseases.

  18. Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.

    PubMed

    Tanner, Stephan M; Li, Zhongyuan; Bisson, Ryan; Acar, Ceren; Oner, Cihan; Oner, Reyhan; Cetin, Mualla; Abdelaal, Mohamed A; Ismail, Essam A; Lissens, Willy; Krahe, Ralf; Broch, Harald; Gräsbeck, Ralph; de la Chapelle, Albert

    2004-04-01

    Selective intestinal malabsorption of vitamin B(12) causing juvenile megaloblastic anemia (MGA; MIM# 261100) is a recessively inherited disorder that is believed to be rare except for notable clusters of cases in Finland, Norway, and the Eastern Mediterranean region. The disease can be caused by mutations in either the cubilin (CUBN; MGA1; MIM# 602997) or the amnionless (AMN; MIM# 605799) gene. To explain the peculiar geographical distribution, we hypothesized that mutations in one of the genes would mainly be responsible for the disease in Scandinavia, and mutations in the other gene in the Mediterranean region. We studied 42 sibships and found all cases in Finland to be due to CUBN (three different mutations) and all cases in Norway to be due to AMN (two different mutations), while in Turkey, Israel, and Saudi Arabia, there were two different AMN mutations and three different CUBN mutations. Haplotype evidence excluded both CUBN and AMN conclusively in five families and tentatively in three families, suggesting the presence of at least one more gene locus that can cause MGA. We conclude that the Scandinavian cases are typical examples of enrichment by founder effects, while in the Mediterranean region high degrees of consanguinity expose rare mutations in both genes. We suggest that in both regions, physician awareness of this disease causes it to be more readily diagnosed than elsewhere; thus, it may well be more common worldwide than previously thought.

  19. Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.

    PubMed

    Lofrano-Porto, Adriana; Barra, Gustavo B; Nascimento, Paula P; Costa, Patrícia G G; Garcia, Erica C; Vaz, Rodrigo F; Batista, Ana R T; Freitas, Ana C R de; Cherulli, Bruno L B; Bahmad, Fayez; Figueiredo, Larissa G; Neves, Francisco A R; Casulari, Luiz Augusto

    2008-11-01

    Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct (EVA) to a typical coclear dysplasia. Mutations in the gene that encodes pendrin (SLC26A4), a chloride/iodide transporter, have been shown to be associated with PS. We describe the clinical and molecular characteristics of a large consanguineous family harboring a mutation in the SLC26A4 gene. The proband was a 26-year-old deaf Brazilian woman who presented a bulky multinodular goiter and hypothyroidism since puberty. Five other siblings were deaf: one brother had a similar phenotype, three siblings also had goiters but normal thyroid function tests, and one brother had only a subtle thyroid enlargement. Other 4 siblings had no thyroid or hearing disorder. Parents were first degree cousins and had normal hearing. The mother was healthy, except for subclinical hypothyroidism; the father was deceased. A perchlorate test in the proband showed a discharge of 21% of the incorporated iodide 2h after the administration of 1g of KClO4. Audiological examinations showed profound hearing loss in all deaf subjects; CT and MRI of the temporal bones showed EVA in all of them. Genomic DNA was isolated from whole blood, from the 6 affected and 4 unaffected siblings, the mother and control. The coding region of the PDS gene (exons 2-21), including exon/intron boundaries, were amplified by PCR and sequenced. A single base-pair (T) deletion at position 1197 of exon 10 was detected in homozygous state in the 6 deaf siblings. The mother and 2 unaffected siblings were heterozygous for this mutation, which has been described by Everett et al. The 1197delT mutation is predicted to result in a frameshift and a truncated protein. The existence of PS phenocopies and intrafamilial phenotypic variability are well documented. The definite

  20. Pakistani and Bangladeshi Young Men: Re-Racialization, Class and Masculinity within the Neo-Liberal School

    ERIC Educational Resources Information Center

    Mac an Ghaill, Mairtin; Haywood, Chris

    2014-01-01

    This article explores Pakistani and Bangladeshi young men's experiences of schooling to examine what inclusion/exclusion means to them. Qualitative research was undertaken with 48 Pakistani and Bangladeshi young men living in areas of the West Midlands, England. The young men highlighted three key areas: the emergence of a schooling regime…

  1. Does gingival recession require surgical treatment?

    PubMed Central

    Chan, Hsun-Liang; Chun, Yong-Hee Patricia; MacEachern, Mark

    2016-01-01

    Gingival recession represents a clinical condition in adults frequently encountered in the general dental practice. It is estimated that 23% of adults in the US have one or more tooth surfaces with ≥ 3 mm gingival recession. Clinicians often time face dilemmas of whether or not to treat such a condition surgically. Therefore, we were charged by the editorial board to answer this critical question: “Does gingival recession require surgical treatment?” An initial condensed literature search was performed using a combination of gingival recession and surgery controlled terms and keywords. An analysis of the search results highlights our limited understanding of the factors that often guide the treatment of gingival recession. Understanding the etiology, prognosis and treatment of gingival recession continues to offer many unanswered questions and challenges in the field of periodontics as we strive to provide the best care possible for our patients. PMID:26427577

  2. Effects of consanguinity on pre-reproductive mortality: does demographic transition matter?

    PubMed

    Alfonso-Sánchez, Miguel A; Peña, José A

    2005-01-01

    The aim of this study was to investigate whether there is an increase on premature deaths due to genetically determined factors at the beginning of a demographic transition. We also analyzed the effects of parental consanguinity on offspring mortality from an epidemiological viewpoint, using parish records for family reconstitution in a Basque population (1800-1990). Among the offspring of unrelated parents, 13.1% died before their first year of life (infant mortality), and 22.8% died before the age of 16 (pre-reproductive mortality). Significant increases in both infant (23.6%) and pre-reproductive (38.5%) deaths were found among the progeny of first cousins or closer relatives, 1C (F > or = 0.0625). The corresponding relative risks of mortality were 1.79 (95% confidence limits: 1.37-2.28) and 1.68 (1.38-2.01), respectively. Estimates of the population attributable risks indicate that 4% of pre-reproductive mortality is ascribable to consanguineous unions, although kinships other than 1C produced only slight increases in offspring mortality. Evidence on the relationship between the demographic transition and the increase in premature deaths due to genetic factors was obtained through a principal component analysis (95.1% of variance accounted for). During the initial stages of the demographic transition, the population experienced substantial elevations in mean family size, natural increase of the population, frequency of close consanguineous matings (1C), and death rate due to congenital anomalies and perinatal diseases. These findings are of interest for the health services of many developing societies in Asia, Africa, and Latin America, which are nowadays immersed in the demographic transition process.

  3. Nutritional and radiological impact of dietary potassium on the Pakistani population.

    PubMed

    Akhter, P; Ashraf, N; Mohammad, D; Orfi, S D; Ahmad, N

    2003-04-01

    The nutritional status of dietary potassium and the radiological impact of its isotope (40)K were estimated for the Pakistani population. Potassium concentration was determined in dietary samples by atomic absorption spectrometry. An average potassium concentration was 4.54+/-0.89 mg/g, which leads to potassium dietary intake of 2.69+/-0.54 g/day and the radiological hazard due to (40)K activity was 79.94 Bq/day. The annual and lifetime effective doses calculated for the reference Pakistani man weighing 64 kg due to measured activity of (40)K were found to be 1.65 x 10(-4) Sv y(-1) and 8.27 x 10(-3) Sv, respectively. Measured data showed that the potassium concentration in the Pakistani diet is adequate and safe according to international standards.

  4. Exploring Relationship Between Spiritual Intelligence, Religiosity and Life Satisfaction Among Elderly Pakistani Muslims.

    PubMed

    Munawar, Khadeeja; Tariq, Omama

    2017-01-21

    This study is an effort to explore the relationship between spiritual intelligence, religiosity and life satisfaction in elderly Pakistani Muslims. A non-probability purposive sampling technique is utilized in order to recruit a sample of 100 elderly people (n = 50 men; n = 50 = women). Standardized questionnaires were used for collecting data. Data analysis was carried out using Pearson product-moment correlation analysis and independent sample t test. Findings revealed a significant correlation between spiritual intelligence, religiosity and life satisfaction among Pakistani elderly Muslim people. Gender differences were considered while conducting the study, and findings are valid for both male and female elderly Pakistani Muslims. Some findings of this study endorse findings of some previous studies, and it adds latest insights to the existing body of knowledge on the subject.

  5. Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

    PubMed

    Renaud, Mathilde; Guissart, Claire; Mallaret, Martial; Ferdinandusse, Sacha; Cheillan, David; Drouot, Nathalie; Muller, Jean; Claustres, Mireille; Tranchant, Christine; Anheim, Mathieu; Koenig, Michel

    2016-08-01

    Peroxisomal biogenesis disorders (PBDs) consist of a heterogeneous group of autosomal recessive diseases, in which peroxisome assembly and proliferation are impaired leading to severe multisystem disease and early death. PBDs include Zellweger spectrum disorders (ZSDs) with a relatively mild clinical phenotype caused by PEX1, (MIM# 602136), PEX2 (MIM# 170993), PEX6 (MIM# 601498), PEX10 (MIM# 602859), PEX12 (MIM# 601758), and PEX16 (MIM# 603360) mutations. Three adult patients are reported belonging to a non-consanguineous French family affected with slowly progressive cerebellar ataxia, axonal neuropathy, and pyramidal signs. Mental retardation and diabetes mellitus were optional. The age at onset was in childhood or in adolescence (3-15 years). Brain MRI showed marked cerebellar atrophy. Biochemical blood analyses suggested a mild peroxisomal defect. With whole exome sequencing, two mutations in PEX10 were found in the three patients: c.827G>T (novel) causing the missense change p.Cys276Phe and c.932G>A causing the missense change p.Arg311Gln. The phenotypic spectrum related to PEX10 mutations includes slowly progressive, syndromic recessive ataxia.

  6. A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis

    PubMed Central

    Habbout, Karima; Poulin, Hugo; Rivier, François; Giuliano, Serena; Sternberg, Damien; Fontaine, Bertrand; Eymard, Bruno; Morales, Raul Juntas; Echenne, Bernard; King, Louise; Hanna, Michael G.; Männikkö, Roope; Chahine, Mohamed; Nicole, Sophie

    2016-01-01

    Objective: To determine the molecular basis of a complex phenotype of congenital muscle weakness observed in an isolated but consanguineous patient. Methods: The proband was evaluated clinically and neurophysiologically over a period of 15 years. Genetic testing of candidate genes was performed. Functional characterization of the candidate mutation was done in mammalian cell background using whole cell patch clamp technique. Results: The proband had fatigable muscle weakness characteristic of congenital myasthenic syndrome with acute and reversible attacks of most severe muscle weakness as observed in periodic paralysis. We identified a novel homozygous SCN4A mutation (p.R1454W) linked to this recessively inherited phenotype. The p.R1454W substitution induced an important enhancement of fast and slow inactivation, a slower recovery for these inactivated states, and a frequency-dependent regulation of Nav1.4 channels in the heterologous expression system. Conclusion: We identified a novel loss-of-function mutation of Nav1.4 that leads to a recessive phenotype combining clinical symptoms and signs of congenital myasthenic syndrome and periodic paralysis, probably by decreasing channel availability for muscle action potential genesis at the neuromuscular junction and propagation along the sarcolemma. PMID:26659129

  7. Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

    PubMed Central

    Morava, Eva; Riemersma, Moniek; Schuurs-Hoeijmakers, Janneke H. M.; Absmanner, Birgit; Verrijp, Kiek; van den Akker, Willem M. R.; Huijben, Karin; Steenbergen, Gerry; van Reeuwijk, Jeroen; Jozwiak, Adam; Zucker, Nili; Lorber, Avraham; Lammens, Martin; Knopf, Carlos; van Bokhoven, Hans; Grünewald, Stephanie; Lehle, Ludwig; Kapusta, Livia; Mandel, Hanna; Wevers, Ron A.

    2011-01-01

    Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM) are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children. Here, we describe 11 young patients (5–13 years) with a predominant presentation of dilated cardiomyopathy (DCM). Metabolic investigations showed deficient protein N-glycosylation, leading to a diagnosis of Congenital Disorders of Glycosylation (CDG). Homozygosity mapping in the consanguineous families showed a locus with two known genes in the N-glycosylation pathway. In all individuals, pathogenic mutations were identified in DOLK, encoding the dolichol kinase responsible for formation of dolichol-phosphate. Enzyme analysis in patients' fibroblasts confirmed a dolichol kinase deficiency in all families. In comparison with the generally multisystem presentation in CDG, the nonsyndromic DCM in several individuals was remarkable. Investigation of other dolichol-phosphate dependent glycosylation pathways in biopsied heart tissue indicated reduced O-mannosylation of alpha-dystroglycan with concomitant functional loss of its laminin-binding capacity, which has been linked to DCM. We thus identified a combined deficiency of protein N-glycosylation and alpha-dystroglycan O-mannosylation in patients with nonsyndromic DCM due to autosomal recessive DOLK mutations. PMID:22242004

  8. A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors

    SciTech Connect

    Brune, W.; Saul, M.; Becker, C.M.

    1996-05-01

    Dominant missense mutations in the human glycine receptor (GlyR) {alpha}1 subunit gene (GLRA1) give rise to hereditary hyperekplexia. These mutations impair agonist affinities and change conductance states of expressed mutant channels, resulting in a partial loss of function. In a recessive case of hyperekplexia, we found a deletion of exons 1-6 of the GLRA1 gene. Born to consanguineous parents, the affected child is homozygous for this GLRA1{sup null} allele consistent with a complete loss of gene function. The child displayed exaggerated startle responses and pronounced head-retraction jerks reflecting a disinhibition of vestigial brain-stem reflexes. In contrast, proprio- and exteroceptive inhibition of muscle activity previously correlated to glycinergic mechanisms were not affected. This case demonstrates that, in contrast to the lethal effect of a null allele in the recessive mouse mutant oscillator (Glra1{sup spd-ot}), the loss of the GlyR {alpha}1 subunit is effectively compensated in man. 38 refs.

  9. [Successful treatment of Norwegian scabies with ivermectin in a patient with recessive dystrophic epidermolysis bullosa].

    PubMed

    Angelo, C; Pedicelli, C; Provini, A; Annessi, G; Zambruno, G; Paradisi, M

    2004-06-01

    A 14 year-old female born from consanguineous healthy parents was admitted to our institute for the presence of a generalized bullous eruption started at birth. The bullae were asymmetrically distributed all over the cutaneous surface and, over time, evolved into erosions that resolved with scarring areas. On the basis of the clinical picture and the ultrastructural and antigenic studies, a diagnosis of recessive dystrophic epidermolysis bullosa was made. In the following months, the patient began to complain a severe pruritus and the bullae and erosions were accompanied with diffuse erythematous patches and plaques covered by thick scale-crusts situated mostly on the arms. Microscopic examination of the scales revealed the presence of many mites and ova. Since the conventional topical therapies for scabies were uneffective, the patient was treated with a single dose (200 mcg/hg) of ivermectin. Although there was an initial improvement, scabies recurred within 2 months from discontinuation of the therapy. Finally, a further single administration of ivermectin at the same dosage led to the complete and permanent resolution of scabies. The association of recessive dystrophic epidermolysis bullosa and norwegian scabies has been already reported in literature. The case presented suggests that ivermectin represents an effective drug for severe forms of scabies occurring in patients affected by other dermatoses that prevent the use of topical treatments.

  10. Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors.

    PubMed

    Bennett, Robin L; Motulsky, Arno G; Bittles, Alan; Hudgins, Louanne; Uhrich, Stefanie; Doyle, Debra Lochner; Silvey, Kerry; Scott, C Ronald; Cheng, Edith; McGillivray, Barbara; Steiner, Robert D; Olson, Debra

    2002-04-01

    The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. respecting psychosocial and multicultural issues.The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow-up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal-fetal serum marker screening and high-resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.

  11. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

    PubMed

    Aglan, Mona; Amr, Khalda; Ismail, Samira; Ashour, Adel; Otaify, Ghada A; Mehrez, Mennat Allah I; Aboul-Ezz, Eman H A; El-Ruby, Mona; Mazen, Inas; Abdel-Hamid, Mohamed S; Temtamy, Samia A

    2015-12-01

    Robinow syndrome (RS) is a rare genetic disorder characterized by limb shortening, genital hypoplasia, and craniofacial/orodental abnormalities. The syndrome follows both autosomal dominant and recessive patterns of inheritance with similar phenotypic presentation and overlapping features. Autosomal recessive Robinow syndrome (ARRS) is caused by mutations in the ROR2 gene. Here, we present the clinical, radiological and molecular findings of 11 Egyptian patients from 7 unrelated consanguineous families with clinical features of ARRS. Mutation analyses of ROR2 gene identified five pathogenic mutations distributed all over the gene. The identified mutations included four novel (G326A, D166H, S677F, and R528Q) and one previously reported (Y192D). Our results extend the number of ROR2 mutations identified so far, suggest a founder effect in the Egyptian population, and emphasize the important role of genetic testing in proper counseling and patients' management.

  12. Recess for Elementary School Students. Position Statement

    ERIC Educational Resources Information Center

    National Association for Sport and Physical Education, 2006

    2006-01-01

    It is the position of the National Association for Sport and Physical Education (NASPE) that all elementary school children should be provided with at least one daily period of recess of at least 20 minutes in length. Recess is an essential component of a comprehensive school physical activity program and of the total education experience for…

  13. The Crucial Role of Recess in Schools

    ERIC Educational Resources Information Center

    Ramstetter, Catherine L.; Murray, Robert; Garner, Andrew S.

    2010-01-01

    Background: Recess is at the heart of a vigorous debate over the role of schools in promoting optimal child development and well-being. Reallocating time to accentuate academic concerns is a growing trend and has put recess at risk. Conversely, pressure to increase activity in school has come from efforts to combat childhood obesity. The purpose…

  14. Strategies for Supporting Recess in Elementary Schools

    ERIC Educational Resources Information Center

    Centers for Disease Control and Prevention, 2014

    2014-01-01

    Recess provides students with a needed break from their structured school day. It can improve children's physical, social, and emotional well-being, and enhance learning. Recess helps children meet the goal of 60 minutes of physical activity (PA) each day, as recommended by the US Department of Health and Human Services. National…

  15. The crucial role of recess in school.

    PubMed

    Murray, Robert; Ramstetter, Catherine

    2013-01-01

    Recess is at the heart of a vigorous debate over the role of schools in promoting the optimal development of the whole child. A growing trend toward reallocating time in school to accentuate the more academic subjects has put this important facet of a child's school day at risk. Recess serves as a necessary break from the rigors of concentrated, academic challenges in the classroom. But equally important is the fact that safe and well-supervised recess offers cognitive, social, emotional, and physical benefits that may not be fully appreciated when a decision is made to diminish it. Recess is unique from, and a complement to, physical education--not a substitute for it. The American Academy of Pediatrics believes that recess is a crucial and necessary component of a child's development and, as such, it should not be withheld for punitive or academic reasons.

  16. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.

    PubMed

    Karaca, Ender; Yuregir, Ozge O; Bozdogan, Sevcan T; Aslan, Huseyin; Pehlivan, Davut; Jhangiani, Shalini N; Akdemir, Zeynep C; Gambin, Tomasz; Bayram, Yavuz; Atik, Mehmed M; Erdin, Serkan; Muzny, Donna; Gibbs, Richard A; Lupski, James R

    2015-11-01

    Klippel-Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and recessive inheritance patterns were reported in families with Klippel-Feil. Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel-Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways. Heterotaxy arises from defects in proteins that function in the development of left-right asymmetry of the developing embryo. We describe a consanguineous family with a male proband who presents with classical Klippel-Feil syndrome together with heterotaxy (situs inversus totalis). The present patient also had Sprengel's deformity, deformity of the sternum, and a solitary kidney. Using exome sequencing, we identified a homozygous frameshift mutation (c.299delT; p.L100fs) in RIPPLY2, a gene shown to play a crucial role in somitogenesis and participate in the Notch signaling pathway via negatively regulating Tbx6. Our data confirm RIPPLY2 as a novel gene for autosomal recessive Klippel-Feil syndrome, and in addition-from a mechanistic standpoint-suggest the possibility that mutations in RIPPLY2 could also lead to heterotaxy. © 2015 Wiley Periodicals, Inc.

  17. Rare Variants in the Notch Signaling Pathway Describe a Novel Type of Autosomal Recessive Klippel–Feil Syndrome

    PubMed Central

    Karaca, Ender; Yuregir, Ozge O.; Bozdogan, Sevcan T.; Aslan, Huseyin; Pehlivan, Davut; Jhangiani, Shalini N.; Akdemir, Zeynep C.; Gambin, Tomasz; Bayram, Yavuz; Atik, Mehmed M.; Erdin, Serkan; Muzny, Donna; Gibbs, Richard A.; Lupski, James R.

    2016-01-01

    Klippel–Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and recessive inheritance patterns were reported in families with Klippel–Feil. Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel–Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways. Heterotaxy arises from defects in proteins that function in the development of left–right asymmetry of the developing embryo. We describe a consanguineous family with a male proband who presents with classical Klippel–Feil syndrome together with heterotaxy (situs inversus totalis). The present patient also had Sprengel’s deformity, deformity of the sternum, and a solitary kidney. Using exome sequencing, we identified a homozygous frameshift mutation (c.299delT; p.L100fs) in RIPPLY2, a gene shown to play a crucial role in somitogenesis and participate in the Notch signaling pathway via negatively regulating Tbx6. Our data confirm RIPPLY2 as a novel gene for autosomal recessive Klippel–Feil syndrome, and in addition—from a mechanistic standpoint—suggest the possibility that mutations in RIPPLY2 could also lead to heterotaxy. PMID:26238661

  18. The Effect of Consanguineous Marriage on Mental Health among the Students of the Shahrekord University of Medical Sciences

    PubMed Central

    Hosseinpour, Maryam; Deris, Fatemeh; Solati-Dehkordi, Kamal; Heidari-Soreshjani, Sheida; Karimi, Negar; Teimori, Hossein

    2016-01-01

    Introduction In Iran, after unintentional accidents, mental health problems are the second leading burden of disease. Consanguineous marriage is very common in Iran and the association between parental consanguinity and mental health is an important issue that has not yet been studied sufficiently in Iran. Aim To investigate the effect of consanguinity and the degree of relationship on different levels of mental health. Materials and Methods In this cross-sectional study, conducted in the Shahrekord University of Medical Sciences, two groups of students were enrolled. The first group consisted of 156 students that had consanguineous parent (case group) and the second group was 156 students whose parents had non-blood relationship (control group). The students were evaluated using General Health Questionnaire (GHQ-28). Statistical analysis was conducted by Pearson’s correlation coefficient, independent t-test and the one-way analysis of variance. Odd ratio was used to estimate the relative risk. Results Over 30% of the individuals were suffering from mental health problems. The most and least common mental health problems in both groups were social dysfunction (54.5% in the case group and the control group 50%) and depression (15.4% in the case group and 17.3% in the control group), respectively. No statistically significant difference was observed in the frequency of overall mental health and its subscales between student with non-consanguineous parent (control group) and the students that had consanguineous parent (case group) (p>0.05) and the status of mental health was not significantly different among student with different degree of kinship (p>0.05). Conclusion The study revealed that social dysfunction was very common among the study students and also there were no relationship between parental consanguineous marriage and mental health. Parental consanguinity and genetic factors may not be the major causes of high prevalence of mental health problems in

  19. Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.

    PubMed

    Gardner, Olivia K; Haynes, Karla; Schweitzer, Daniela; Johns, Alexis; Magee, William P; Urata, Mark M; Sanchez-Lara, Pedro A

    2016-06-29

    We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. We discuss the diagnostic approach of craniofacial disorders born to consanguineous parents and highlight a literature search and reference a helpful dysmorphology solution powered by FDNA (Facial Dysmorphology Novel Analysis) technology.

  20. A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.

    PubMed

    Miura, Shiroh; Morikawa, Takuya; Fujioka, Ryuta; Kosaka, Kengo; Yamada, Kohei; Hattori, Gohsuke; Motomura, Manabu; Taniwaki, Takayuki; Shibata, Hiroki

    2016-08-01

    Spastic paraplegia (SPG) type 28 is an autosomal recessive SPG caused by mutations in the DDHD1 gene. We examined a Japanese 54-years-old male patient with autosomal recessive SPG. His parents were consanguineous. He needed a wheelchair for transfer due to spastic paraplegia. There was a history of operations for bilateral hallux valgus, thoracic ossification of the yellow ligament, bilateral carpal tunnel syndrome, bilateral ankle contracture, and lumbar spinal canal stenosis. He noticed gait disturbance at age 14. He used a cane for walking in his 40s. On neurological examination, he showed hyperreflexia, spasticity, and weakness in the lower extremities and bilateral Babinski reflexes. Urinary dysfunctions and impaired vibration sense in the lower limbs were observed. By exome sequencing analysis using Agilent SureSelect and Illumina MiSeq, we identified 17,248 homozygous nucleotide variants in the patient. Through the examination of 48 candidate genes known to be responsible for autosomal recessive SPG, we identified a novel homozygous 4-bp deletion, c.914_917delGTAA, p.Ser305Ilefs*2 in exon2 of the DDHD1 gene encoding phosphatidic acid-preferring phospholipase A1 (PA-PLA1). The mutation is expected to cause a frameshift generating a premature stop codon 3-bp downstream from the deletion. In consequence, the DDHD domain that is known to be critical for PLA1 activity is completely depleted in the mutated DDHD1 protein, predicted to be a functionally null mutation of the DDHD1 gene. By Sanger sequencing, we confirmed that both parents are heterozygous for the mutation. This variation was not detected in 474 Japanese control subjects as well as the data of the 1,000G Project. We conclude that the novel mutation in DDHD1 is the causative variant for the SPG28 patient that is the first record of the disease in Japanese population.

  1. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

    PubMed Central

    Mallaret, Martial; Synofzik, Matthis; Lee, Jaeho; Sagum, Cari A.; Mahajnah, Muhammad; Sharkia, Rajech; Drouot, Nathalie; Renaud, Mathilde; Klein, Fabrice A. C.; Anheim, Mathieu; Tranchant, Christine; Mignot, Cyril; Mandel, Jean-Louis; Bedford, Mark; Bauer, Peter; Salih, Mustafa A.; Schüle, Rebecca; Schöls, Ludger; Aldaz, C. Marcelo

    2014-01-01

    We previously localized a new form of recessive ataxia with generalized tonic-clonic epilepsy and mental retardation to a 19 Mb interval in 16q21-q23 by homozygosity mapping of a large consanguineous Saudi Arabian family. We now report the identification by whole exome sequencing of the missense mutation changing proline 47 into threonine in the first WW domain of the WW domain containing oxidoreductase gene, WWOX, located in the linkage interval. Proline 47 is a highly conserved residue that is part of the WW motif consensus sequence and is part of the hydrophobic core that stabilizes the WW fold. We demonstrate that proline 47 is a key amino acid essential for maintaining the WWOX protein fully functional, with its mutation into a threonine resulting in a loss of peptide interaction for the first WW domain. We also identified another highly conserved homozygous WWOX mutation changing glycine 372 to arginine in a second consanguineous family. The phenotype closely resembled the index family, presenting with generalized tonic-clonic epilepsy, mental retardation and ataxia, but also included prominent upper motor neuron disease. Moreover, we observed that the short-lived Wwox knock-out mouse display spontaneous and audiogenic seizures, a phenotype previously observed in the spontaneous Wwox mutant rat presenting with ataxia and epilepsy, indicating that homozygous WWOX mutations in different species causes cerebellar ataxia associated with epilepsy. PMID:24369382

  2. Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

    PubMed Central

    Irum, Bushra; Khan, Shahid Y.; Ali, Muhammad; Daud, Muhammad; Kabir, Firoz; Rauf, Bushra; Fatima, Fareeha; Iqbal, Hira; Khan, Arif O.; Al Obaisi, Saif; Naeem, Muhammad Asif; Nasir, Idrees A.; Khan, Shaheen N.; Husnain, Tayyab; Riazuddin, Sheikh; Akram, Javed; Eghrari, Allen O.; Riazuddin, S. Amer

    2016-01-01

    Purpose The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree. Methods All participating individuals underwent a detailed ophthalmic examination. Each patient’s medical history, particularly of cataracts and other ocular abnormalities, was compiled from available medical records and interviews with family elders. Blood samples were donated by all participating family members and used to extract genomic DNA. Genetic analysis was performed to rule out linkage to known arCC loci and genes. Whole-exome sequencing libraries were prepared and paired-end sequenced. A large deletion was found that segregated with arCC in the family, and chromosome walking was conducted to estimate the proximal and distal boundaries of the deletion mutation. Results Exclusion and linkage analysis suggested linkage to a region of chromosome 6p24 harboring GCNT2 (glucosaminyl (N-acetyl) transferase 2) with a two-point logarithm of odds score of 5.78. PCR amplifications of the coding exons of GCNT2 failed in individuals with arCC, and whole-exome data analysis revealed a large deletion on chromosome 6p in the region harboring GCNT2. Chromosomal walking using multiple primer pairs delineated the extent of the deletion to approximately 190 kb. Interestingly, a failure to amplify a junctional fragment of the deletion break strongly suggests an insertion in addition to the large deletion. Conclusion Here, we report a novel insertion/deletion mutation at the GCNT2 locus that is responsible for congenital cataracts in a large consanguineous family. PMID:27936067

  3. Role of ICT in Shaping the Future of Pakistani Higher Education System

    ERIC Educational Resources Information Center

    Shaikh, Zaffar Ahmed; Khoja, Shakeel Ahmed

    2011-01-01

    This study examined the challenges faced by the Pakistani higher education system (HES) in integrating information and communication technology (ICT); it aimed at understanding ICT needs, measuring the increase in ICT demand, determining the relationship between ICT and HES performance, and understanding how the HES copes with the challenges of…

  4. Pakistani Government Secondary Schools Students' Attitudes towards Communicative Language Teaching and Grammar Translation in Quetta, Balochistan

    ERIC Educational Resources Information Center

    Muhammad, Zeeshan

    2016-01-01

    Students' attitudes towards an English language teaching approach play an important role for its implementation success or failure. This study measured Pakistani government school students' attitudes towards Communicative Language Teaching (CLT) and Grammar Translation (GT). A survey instrument was used to assess students' attitudes. Data were…

  5. Comparative Study of Suicide Potential among Pakistani and American Psychiatric Patients

    ERIC Educational Resources Information Center

    Farooqi, Yasmin Nilofer

    2004-01-01

    This study compared suicide potential and suicide attempts in 50 Pakistani and 50 American psychiatric patients all of whom reported a positive history of suicide attempts during the past 1-5 years. It further explored the role of nationality, gender, diagnosis, and marital status in respondents' potential for suicide and suicide attempts. The…

  6. Attitudes of Pakistani Medical Students Towards Psychiatry as a Prospective Career: A Survey

    ERIC Educational Resources Information Center

    Syed, Ehsan Ullah; Siddiqi, Mohammad Naim; Dogar, Imtiaz; Hamrani, Mohammad Munir; Yousafzai, Abdul Wahab; Zuberi, Saman

    2008-01-01

    Objective: Pakistan is facing a shortage of psychiatrists; there are about 350 psychiatrists in a country of 150 million. Medical specialty choice surveys of medical students have approached this issue from various angles. The authors' objective is to explore the attitudes of Pakistani medical students toward psychiatry as their future career.…

  7. Working of Ideology in the TV Commercials of Cold Drinks in Pakistani Media

    ERIC Educational Resources Information Center

    Ahmad, Madiha; Ahmad, Sofia; Ijaz, Nida; Batool, Sumera; Abid, Maratab

    2015-01-01

    The article aims at the analysis of the TV commercials of three carbonated cold drinks from Pakistani media. The analysis will be carried out using the three dimensional framework presented by Fairclough. Through the analysis, the ideological framing of the commercials will be brought to light. To achieve this purpose different techniques used by…

  8. The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective.

    PubMed

    Shafique, Maeirah; Muzaffar, Waqar; Ishaq, Mazhar

    2016-02-01

    Non-traumatic ectopia lentis has been associated with genetic diseases in a European population; however, no data are present in regards to this in a Pakistani demographic. In third world countries such as Pakistan, due to the lack of screening tests, this disease has the potential to remain undiagnosed till a later age, at which point the eye through the finding of ectopia lentis has potential to lead to the right diagnosis. Our purpose was to investigate Pakistani patients presenting with ectopia lentis who have underlying homocystinuria and establish a relationship between the two. Additionally, we elicited various systemic and ophthalmic features in these settings. Ten Pakistani patients presenting with decreased vision and ectopia lentis with concomitant homocystinuria were included in the study. Assessment of systemic and ophthalmic features was performed. All patients presented with visual deterioration. All 20 (100 %) eyes had ectopia lentis, of which, 15 (75 %) eyes had inferior subluxation, whereas five (25 %) eyes had anterior subluxation of the crystalline lens. Ectopia lentis and homocystinuria appear to have a strong correlation in Pakistani population. Ectopia lentis has the potential to serve as an important clue to its diagnosis, which may in turn lead to decreased morbidity if diagnosed in a timely fashion.

  9. Pakistani English Newspaper Paid Obituary Announcements: A Descriptive Analysis of the Transliterated Vocabulary

    ERIC Educational Resources Information Center

    Chaudhry, Sajid M.; Christopher, Anne A.; Krishnasamy, Hariharan A/L N.

    2016-01-01

    The study, qualitative and descriptive in nature, examines the use of transliteration in the paid Pakistani obituary announcements authored in the English language. Primarily, it identifies the frequently used transliterated vocabulary in these linguistic messages and reconnoiters the functional relationship that emerges in and between the textual…

  10. Attitudes of Pakistani Community Members and Staff toward People with Intellectual Disability

    ERIC Educational Resources Information Center

    Patka, Mazna; Keys, Christopher B.; Henry, David B.; McDonald, Katherine E.

    2013-01-01

    The acceptance and inclusion of persons with intellectual disability can vary across cultures, and understanding attitudes can provide insight into such variation. To our knowledge, no previous study has explored attitudes toward people with intellectual disability among Pakistani community members and disability service providers. We administered…

  11. The Impact of Educational Change on School Leaders: Experiences of Pakistani School Leaders

    ERIC Educational Resources Information Center

    Razzaq, Jamila; Forde, Christine

    2013-01-01

    The Pakistani education system, like many other countries across the world, is going through a phase of concerted change in the first decade of the 21st century and school leaders are expected to play a crucial role in the management of this change programme. This article considers the impact of educational change on a group of school leaders who…

  12. Willingness to Communicate in English as a Second Language: A Case Study of Pakistani Undergraduates

    ERIC Educational Resources Information Center

    Bukhari, Syeda Farzana; Cheng, Xiaoguang; Khan, Salman Ali

    2015-01-01

    Willingness to communicate (WTC) construct plays an important role in second language (L2) teaching and learning. Almost any second language learner is likely to respond to a direct question, but many will not continue or initiate communication. The present study investigates Pakistani undergraduate students' perception of their willingness to…

  13. Continuing Bonds in Bereaved Pakistani Muslims: Effects of Culture and Religion

    ERIC Educational Resources Information Center

    Suhail, Kausar; Jamil, Naila; Oyebode, Jan; Ajmal, Mohammad Asir

    2011-01-01

    This study explores the bereavement process and continuing bond in Pakistani Muslims with the focus on how culture and religion influence these processes. Ten participants were interviewed and their transcribed interviews were analyzed using a grounded theory approach. Three main domains were identified from the narratives expressed by the…

  14. Obesity and Minority--Changing Meanings of Big Bodies among Young Pakistani Obesity Patients in Norway

    ERIC Educational Resources Information Center

    Wathne, Kjetil; Mburu, Christina Brux; Middelthon, Anne-Lise

    2015-01-01

    Globally, paediatric obesity causes widespread concern, and the role of ethnicity is an important focus. Investigating how culture can mediate health-related behaviour through ideas about bodies, food and physical activity, while addressing a notion that the Pakistani community in Norway is particularly conservative and slow to change, this…

  15. She stands alone: Pakistani woman film director, Shireen Pasha.

    PubMed

    Mustafa, A

    1995-01-01

    This article describes the activities of film director Shireen Pasha in promoting truth in the mass media in Pakistan. Pasha is described as one who finds it inexcusable in a state-subsidized system that national problems of poverty are not aired openly. Pasha has pursued the goal of exposing the real lives of Pakistanis on film in contrast to the publicly aired segments of "pretty girls in nice drawing rooms." Foreign channels available through satellite communications technology are viewed by Pasha as inappropriate with regard to people's needs and uncreative. Pakistan began with one channel, PTV, which recently refused to air her documentary on living conditions in Pakistan's rural areas "The Travelogue Pakistan." "The Walled City of Lahore" was her film about life in the old city. Both films poetically depicted the honor of humans and their struggle to stay alive. Some of her documentaries are made to show the value of indigenous skills, centuries old know-how, and traditions, regardless of the poverty. Pasha is described as fighting with PTV management over use of resources. Pasha desires to invest in training people to do documentaries or be more field-oriented rather than investing in equipment. Pasha joined PTV in 1975 and left in 1990. Pasha is recognized for her isolation as a woman in the business world, her commitment to exposing remote cultures and truth, and the odds she must confront in attaining her goals. Pasha is committed to doing extensive research, usually conducted during the summer months, in order to construct a credible story line that is produced usually during the winter months. One model of film story line is defined as one where women are portrayed as starting from an indigenous skill or knowledge and shifting to a greater position of power and control over their lives. Pasha believes that people who make films have the responsibility to evoke a reaction in people and to offer solutions. Two acclaimed films, which were supported by

  16. Syndrome Keratitis-Ichtyosis-Deafness (KID) chez un enfant togolais issu d'un mariage consanguin

    PubMed Central

    Kombaté, Koussak; Saka, Bayaki; Landoh, Dadja Essoya; Mouhari-Toure, Abass; Akakpo, Séfako; Belei, Eric; Gnassingbé, Wanguena; Djibril, Mohaman Awalou; Tchangaï-Walla, Kissem; Pitché, Palokinam

    2015-01-01

    Le syndrome KID est une affection génétique rare associant kératite, ichtyose et surdité. Nous rapportons un cas dont la surdité s'est compliquée de mutisme chez un enfant togolais issu d'un mariage consanguin.Il s'agissait d'une fillette de 9 ans admise en dermatologie pour une peau sèche et une kératodermie palmoplantaire évoluant depuis l'enfance, une surdité sévère et un mutisme total évoluant depuis la naissance. Il n'y avait pas d'histoire familiale connue de syndrome KID. Les parents de cet enfant sont des cousins germains. A l'examen, on notait une kératodermie palmoplantaire typique en cuir grossier, une peau sèche ichtyosiforme finement squameuse avec un aspect pachydermique aux genoux et un aspect arlequin aux jambes. L'examen ophtalmologique avait noté une blépharo-conjonctivite, une xérophtalmie, une photophobie et une absence de sourcils. L'examen ORL avait objectivé une hypotrophie des pavillons des oreilles, une surdité sévère et un mutisme total. La particularité de cette observation réside dans la sévérité de l'atteinte auditive qui s'est compliquée de mutisme. Notre enfant étant née de parents consanguins sains, sans histoire familiale de KID, nous pensons que le mode de transmission est probablement sporadique. Une étude moléculaire du cas index et de ses parents, non réalisée à cause de notre plateau technique limité aurait pu le confirmer. PMID:26664520

  17. Graduated recession of the superior oblique muscle.

    PubMed Central

    Caldeira, J A

    1975-01-01

    Recession of the superior oblique was performed bilaterally in 12 patients with the A phenomenon and unilaterally in four patients with vertical imbalance. The results are discussed. Images PMID:1191613

  18. Have Employment Patterns in Recessions Changed?.

    ERIC Educational Resources Information Center

    Bowers, Norman

    1981-01-01

    A survey of postwar recessions shows that the increasing proportion of service sector jobs has moderated overall employment declines and that women in nontraditional jobs, Blacks, and youths bear a disproportionate share of job losses. (LRA)

  19. Systematic review of suicide in economic recession

    PubMed Central

    Oyesanya, Mayowa; Lopez-Morinigo, Javier; Dutta, Rina

    2015-01-01

    AIM: To provide a systematic update of the evidence concerning the relationship between economic recession and suicide. METHODS: A keyword search of Ovid Medline, Embase, Embase Classic, PsycINFO and PsycARTICLES was performed to identify studies that had investigated the association between economic recession and suicide. RESULTS: Thirty-eight studies met predetermined selection criteria and 31 of them found a positive association between economic recession and increased suicide rates. Two studies reported a negative association, two articles failed to find such an association, and three studies were inconclusive. CONCLUSION: Economic recession periods appear to increase overall suicide rates, although further research is warranted in this area, particularly in low income countries. PMID:26110126

  20. Genetics Home Reference: autosomal recessive primary microcephaly

    MedlinePlus

    ... This Page Cox J, Jackson AP, Bond J, Woods CG. What primary microcephaly can tell us about ... Mannon J, Rashid Y, Crow Y, Bond J, Woods CG. Autosomal recessive primary microcephaly: an analysis of ...

  1. Genetics Home Reference: autosomal recessive congenital methemoglobinemia

    MedlinePlus

    ... it alters a molecule within these cells called hemoglobin . Hemoglobin carries oxygen to cells and tissues throughout the ... autosomal recessive congenital methemoglobinemia , some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, ...

  2. Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis

    SciTech Connect

    Chung, E.; Hanukoglu, A.; Rees, M.; Thompson, R.; Gardiner, R.M.

    1995-10-01

    Pseudohypoaldosteronism type 1 (PHA1) is an uncommon inherited disorder characterized by salt-wasting in infancy arising from target organ unresponsiveness to mineralocorticoids. Clinical expression of the disease varies from severely affected infants who may die to apparently asymptomatic individuals. Inheritance is Mendelian and may be either autosomal dominant or autosomal recessive. A defect in the mineralocortiocoid receptor has been implicated as a likely cause of PHA1. The gene for human mineralocorticoid receptor (MLR) has been cloned and physically mapped to human chromosome 4q31.1-31.2. The etiological role of MLR in autosomal recessive PHA1 was investigated by performing linkage analysis between PHA1 and three simple sequence length polymorphisms (D4S192, D4S1548, and D4S413) on chromosome 4q in 10 consanguineous families. Linkage analysis was carried out assuming autosomal recessive inheritance with full penetrance and zero phenocopy rate using the MLINK program for two-point analysis and the HOMOZ program for multipoint analysis. Lod scores of less than -2 were obtained over the whole region from D4S192 to D4S413 encompassing MLR. This provides evidence against MLR as the site of mutations causing PHA1 in the majority of autosomal recessive families. 34 refs., 3 figs., 2 tabs.

  3. HYDRORECESSION: A toolbox for streamflow recession analysis

    NASA Astrophysics Data System (ADS)

    Arciniega, S.

    2015-12-01

    Streamflow recession curves are hydrological signatures allowing to study the relationship between groundwater storage and baseflow and/or low flows at the catchment scale. Recent studies have showed that streamflow recession analysis can be quite sensitive to the combination of different models, extraction techniques and parameter estimation methods. In order to better characterize streamflow recession curves, new methodologies combining multiple approaches have been recommended. The HYDRORECESSION toolbox, presented here, is a Matlab graphical user interface developed to analyse streamflow recession time series with the support of different tools allowing to parameterize linear and nonlinear storage-outflow relationships through four of the most useful recession models (Maillet, Boussinesq, Coutagne and Wittenberg). The toolbox includes four parameter-fitting techniques (linear regression, lower envelope, data binning and mean squared error) and three different methods to extract hydrograph recessions segments (Vogel, Brutsaert and Aksoy). In addition, the toolbox has a module that separates the baseflow component from the observed hydrograph using the inverse reservoir algorithm. Potential applications provided by HYDRORECESSION include model parameter analysis, hydrological regionalization and classification, baseflow index estimates, catchment-scale recharge and low-flows modelling, among others. HYDRORECESSION is freely available for non-commercial and academic purposes.

  4. Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry.

    PubMed

    Saha, Bidisha; Lessel, Davor; Nampoothiri, Sheela; Rao, Anuradha S; Hisama, Fuki M; Peter, Dincy; Bennett, Chris; Nürnberg, Gudrun; Nürnberg, Peter; Martin, George M; Kubisch, Christian; Oshima, Junko

    2013-05-01

    Werner syndrome is a rare autosomal recessive disorder characterized by multiple features consistent with accelerated aging. It is caused by mutations in the WRN gene, which encodes a RecQ type helicase. To date, more than 70 disease-causing mutations have been reported. While founder mutations and a corresponding relatively high incidence of WS have been reported in Japan and Sardinia, such mutations have not been previously described among patients of South Asian descent. Here we report two novel WRN mutations in three pedigrees. A homozygous c.561A>G mutation in exon 6 was identified both in a pedigree from Kerala, India and in a British patient of Pakistani ancestry. Although c.561A>G does not alter the corresponding amino acid (p.K187K), it creates a cryptic splice site resulting in a 98bp deletion at the mRNA level (r.557-654del98) followed by a frameshift (p.K187fs). These two cases shared the same haplotype across the WRN gene, and were distinct from another Indian Werner patient with a homozygous stop codon mutation, c.2855 C>A (p.S952*) in exon 24. As the Indian population increases and the awareness of Werner syndrome grows, we anticipate that more cases will be identified with these founder mutations among South Asian Werner syndrome patients.

  5. Ethnic-specific WRN mutations in South Asian Werner syndrome patients: potential founder effect in patients with Indian or Pakistani ancestry

    PubMed Central

    Saha, Bidisha; Lessel, Davor; Nampoothiri, Sheela; Rao, Anuradha S; Hisama, Fuki M; Peter, Dincy; Bennett, Chris; Nürnberg, Gudrun; Nürnberg, Peter; Martin, George M; Kubisch, Christian; Oshima, Junko

    2013-01-01

    Werner syndrome (WS) is a rare autosomal recessive disorder characterized by multiple features consistent with accelerated aging. It is caused by mutations in the WRN gene, which encodes a RecQ type helicase. To date, more than 70 disease-causing mutations have been reported. While founder mutations and a corresponding relatively high incidence of WS have been reported in Japan and Sardinia, such mutations have not been previously described among patients of South Asian descent. Here, we report two novel WRN mutations in three pedigrees. A homozygous c.561A>G mutation in exon 6 was identified both in a pedigree from Kerala, India and in a British patient of Pakistani ancestry. Although c.561A>G does not alter the corresponding amino acid (p.Lys187), it creates a cryptic splice site resulting in a 98 bp deletion at the mRNA level (r.557_654del98) followed by a frameshift (p.Lys187Trpfs*13). These two cases shared the same haplotype across the WRN gene, and were distinct from another Indian Werner patient with a homozygous stop codon mutation, c.2855 C > A (p.Ser952*), in exon 24. As the Indian population increases and the awareness of WS grows, we anticipate that more cases will be identified with these founder mutations among South Asian WS patients. PMID:23936869

  6. The fate of 12 recessive mutations in a single village.

    PubMed

    Zlotogora, J; Hujerat, Y; Barges, S; Shalev, S A; Chakravarti, A

    2007-03-01

    In a Muslim Arab village, relatively isolated because of the preference of consanguineous marriages, we studied the fate of 12 mutations in 5 different genes. The study was based on carriers detected among relatives of affected patients and of carriers discovered in a random sample of 424 adults. Most of the mutations have been introduced by a carrier(s) originating from another village, but a few have been de novo events. Mutations that are very frequent in the entire village were introduced soon after the foundation of the village. Examples of such mutations are [GBJ2, 35Gdel] and [MEFV, M680I], with a carrier frequency of 7.8% and 6.2%, respectively. Many of the other mutations that are rare were introduced recently into the village and are frequent only among the descendants of the first couple carrying the mutation. For instance all the carriers of [ARSA, Q190H], responsible for metachromatic leukodystrophy, were found among the 218 descendants of a couple who were living in the village 4 generations ago. Since the village is typical for the region this study allows for some general conclusions to be drawn. In a population with a high degree of inbreeding the diagnosis of a single family with a patient(s) affected with a recessive disorder points to a recent event, while the finding of a rare disease in several families from an inbred population points to an older mutation. Mutations are often "exported" from one population to another by marriage. In the new inbred population this novel mutation will either be lost or will become frequent as the result of a founder effect. These observations are important for genetic counselling in the case of a recent mutation, since only the descendants of the founder couple are at risk, while in the case of older mutations the risk may be for the entire village. In the case of those frequent ancient mutations, the risk for a relative of an affected individual will be similar whether he marries a close relative or any random

  7. Access to Power: Governance and Development in the Pakistani Electrical Power Sector

    NASA Astrophysics Data System (ADS)

    Naqvi, Ijlal

    This dissertation explores governance in Pakistan through a study of the state-run electrical power sector. At both the micro and macro level, the Pakistani power sector provides a lens into the heart of the Pakistani state and its governance institutions. This ethnographic and historical study offers an in-depth look at state operations in a developing country, situates the current Pakistani power crisis in a larger context of continuity through periods of dictatorship and democracy, and suggests how efforts to make state service delivery more responsive to citizens might be reconceived. A historical review of the Pakistani power sector establishes first and foremost that the current crisis is the product of longer-term processes for which the policy solutions currently being proposed (with the support of international donors and multilateral lenders) are inadequate. Depoliticized attempts at power sector reform have little to offer in light of the pervasively informal and negotiated nature of the fragmented Pakistani state. The institutions of power sector governance are mutually constituted by the formal rules and the informal---personal relationships, language, violence, money, and power. These rules of the game are as relevant to relations within and between public sector organizations as they are to the engagement of citizens with their state. The same rules apply at the margins of the state---informal squatter settlements---as at the core, though the resources brought to bear and the resultant outcomes are different. The internal incoherence of this state underscores the limitations of formal rules in determining outcomes, and the poor prospects for reform efforts that focus exclusively on the formal aspects of governance. To proactively engage with the question of political will leads away from top-down policy perspectives and counter to the depoliticizing tendencies that currently shape policy reforms. Instead, an energized and informed local participation

  8. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.

    PubMed

    Jain, P K; Lalwani, A K; Li, X C; Singleton, T L; Smith, T N; Chen, A; Deshmukh, D; Verma, I C; Smith, R J; Wilcox, E R

    1998-06-01

    Autosomal recessive nonsyndromic sensorineural deafness segregating in a large consanguineous Indian family was mapped to chromosome 11p14-p15.1 defining a new locus, DFNB18. A maximum lod score of 4.4 at theta = 0 was obtained for the polymorphic micro-satellite marker D11S1888. Haplotype analysis localizes this gene between markers D11S1307 and D11S2368, which is approximately 1.6 cM and encompasses the region of Usher syndrome type 1C (USH1C). We postulate that DFNB18 and USH1C are allelic variants of the same gene.

  9. [How to understand the excessive lateral rectus muscle recession].

    PubMed

    Kang, Xiaoli; Wei, Yan

    2014-07-01

    Surgical treatments of intermittent exotropia include symmetric bilateral lateral rectus recession, symmetric bilateral medial rectus resection, asymmetric monocular lateral rectus recession and/or medial rectus resection, in which lateral rectus recession is the most common method. The maximum amount of lateral rectus recession, however, is still controversial. Bilateral lateral rectus recession 7-8 mm for 35(Δ)-40(Δ) exotropia and unilateral lateral rectus recession and medial rectus resection for exotropia larger than 40(Δ) are suggested by most doctor usually. But some other doctors advocated augmented bilateral lateral rectus recession (9-14 mm ) for exotropia larger than 50(Δ) or augmented unilateral lateral rectus recession for moderate angle exotropia (30(Δ)-35(Δ)), which brought confusion in practical clinical work. In this paper, we'll focus on the amount of lateral rectus recession, and discuss several common issues related to augmented lateral rectus recession, in order to provide references for the majority of clinicians.

  10. Attitudes of Pakistani community members and staff toward people with intellectual disability.

    PubMed

    Patka, Mazna; Keys, Christopher B; Henry, David B; McDonald, Katherine E

    2013-01-01

    The acceptance and inclusion of persons with intellectual disability can vary across cultures, and understanding attitudes can provide insight into such variation. To our knowledge, no previous study has explored attitudes toward people with intellectual disability among Pakistani community members and disability service providers. We administered the Community Living Attitudes Scale (Henry et al., 1996), a measure of attitudes toward people with intellectual disability developed in the United States, to 262 community members and 190 disability service providers in Pakistan. Confirmatory factor analysis found a 4-factor solution (empowerment, similarity, exclusion, and sheltering) fit the Pakistani sample. More positive attitudes were observed in staff serving people with intellectual disability, females, Christians, Hindus, Sunnis, and people with greater education. We discuss implications for research, theory, and practice.

  11. An overview of the predictors of depression among adult Pakistani women.

    PubMed

    Zahidie, Aysha; Jamali, Tanzil

    2013-08-01

    Diseases of women that are due to their gender specific roles and responsibilities result from cultural and social factors prevalent in the environs. World Health Organization has put special emphasis on research need regarding gender related factors for diseases disproportionately affecting women in developing countries. The objective of this write up was to determine the prevalence of depression and the associated risk factors among adult women in Pakistan. PubMed was searched using key words depression, risk factors, women and Pakistan. Out of 20 initially retrieved articles, 12 were directly related to depression and its risk factors among Pakistani women within Pakistani geographical context. Women in Pakistan are vulnerable to poor mental health due to marriage related issues, domestic violence, verbal or physical abuse by in-laws, stressful life and poor social conditions. Women in their perinatal period are more at risk of depression due to pregnancy related concerns.

  12. Experiences of outreach workers in promoting smoking cessation to Bangladeshi and Pakistani men: longitudinal qualitative evaluation

    PubMed Central

    2011-01-01

    Background Despite having high smoking rates, there have been few tailored cessation programmes for male Bangladeshi and Pakistani smokers in the UK. We report on a qualitative evaluation of a community-based, outreach worker delivered, intervention that aimed to increase uptake of NHS smoking cessation services and tailor services to meet the needs of Bangladeshi and Pakistani men. Methods This was a longitudinal, qualitative study, nested within a phase II cluster randomised controlled trial of a complex intervention. We explored the perspectives and experiences of five outreach workers, two stop smoking service managers and a specialist stop smoking advisor. Data were collected through focus group discussions, weekly diaries, observations of management meetings, shadowing of outreach workers, and one-to-one interviews with outreach workers and their managers. Analysis was undertaken using a modified Framework approach. Results Outreach workers promoted cessation services by word of mouth on the streets, in health service premises, in local businesses and at a wide range of community events. They emphasised the reasons for cessation, especially health effects, financial implications, and the impact of smoking on the family. Many smokers agreed to be referred to cessation services, but few attended, this in part being explained by concerns about the relative inflexibility of existing service provision. Although outreach workers successfully expanded service reach, they faced the challenges of perceived lack of awareness of the health risks associated with smoking in older smokers and apathy in younger smokers. These were compounded by perceptions of "lip service" being given to their role by community organisations and tensions both amongst the outreach workers and with the wider management team. Conclusions Outreach workers expanded reach of the service through taking it to diverse locations of relevance to Pakistani and Bangladeshi communities. The optimum

  13. The Indo-Pakistani Nuclear Issue: A U.S. Policy Perspective

    DTIC Science & Technology

    1992-06-01

    from Jinnah to Zia have sought help from the USA, which has ’used’ Pakistan for purposes related to its own global objectives and concerns. In...under IAEA safeguards. In his essay in Nuclear Proliferation in South Asia, Akhtar Ali speculated that India may have been able to import additional...further partition of Pakistan and the creation of Bangladesh. Pakistanis extracted three bitter lessons from that defeat. They concluded that: 1

  14. Family structure and the mental health of Pakistani Muslim mothers and their children living in Britain.

    PubMed

    Shah, Q; Sonuga-Barke, E

    1995-02-01

    The relationship between family structure and mental health was examined in a British Pakistani Muslim community. Mothers completed an inventory of psychological symptoms of depression and anxiety while a teacher rated their children's behavioural adjustment. Mothers living in extended families reported feeling more depressed and anxious than those in nuclear families; their children, however, were better adjusted. The significance and reasons for the different patterns of association between family structure and psychological well-being for mothers and children are discussed.

  15. Genetic link of type 1 diabetes susceptibility loci with rheumatoid arthritis in Pakistani patients.

    PubMed

    Kiani, Aysha Karim; Jahangir, Sidrah; Jahngir, Sidrah; John, Peter; Bhatti, Attya; Zia, Asima; Wang, Xingbin; Demirci, F Yesim; Kamboh, M Ilyas

    2015-06-01

    Rheumatoid arthritis (RA) and type 1 diabetes (T1D) are two autoimmune disorders that have been reported to co-occur in the same subjects or in different subjects from the same family. This suggests the sharing of disease susceptibility loci between RA and T1D. This study was aimed to find out such susceptibility loci that are common in both T1D and RA in Pakistani population. A total of 366 Pakistanis comprising related and unrelated RA cases and controls were recruited. Blood samples were collected from all patients followed by DNA isolation. Thirty-one single-nucleotide polymorphisms (SNPs) previously reported to be associated with T1D were genotyped in RA cases and controls using TaqMan SNP genotyping assays. Data was analyzed using FamCC software. We have identified seven SNP associations that survived multiple testing corrections using false discovery rate: SKAP2/rs7804356 (p = 2.47E-04), GLIS3/rs7020673 (p = 2.86E-04), GSDMB/rs2290400 (p = 23.48E-04), BACH2/rs11755527 (p = 9.16E-04), C6orf173/ rs9388489 (p = 3.11E-03), PRKCQ/DKFZp667F0711/ rs947474 (p = 4.53E-03), and DLK1/ rs941576 (p = 9.51E-03). Our results support the presence of overlapping loci between RA and T1D in Pakistani patients.

  16. Identities in the third space? Solidity, elasticity and resilience amongst young British Pakistani Muslims.

    PubMed

    Mythen, Gabe

    2012-09-01

    Over the last decade the issue of identity has been prevalent in discussions about British Muslims, with the events of 9/11 serving as a touchstone for media debates about religious, national and cultural affiliations. The 7/7 terrorist attacks in the UK led to young British Pakistanis being subjected to intense public and institutional scrutiny and wider political concerns being expressed about the failure of multiculturalism. Young British Pakistanis have thus had to negotiate and maintain their identities in an environment in which they have been defined as a threat to national security whilst simultaneously being pressurized to align with 'core British values'. Within this context, we convey the findings of a qualitative study involving British Pakistanis living in the North-west of England. In presenting the experiences and perspectives of participants, three interconnected processes salient to the maintenance of identity are delineated: solidity, elasticity and resilience. Having unpacked these processes, we draw upon Bhabha's third space thesis to explore the political potentiality of and the limits to hybridic identities.

  17. Factors associated with the process of adaptation among Pakistani adolescent females living in United States.

    PubMed

    Khuwaja, Salma A; Selwyn, Beatrice J; Mgbere, Osaro; Khuwaja, Alam; Kapadia, Asha; McCurdy, Sheryl; Hsu, Chiehwen E

    2013-04-01

    This study explored post-migration experiences of recently migrated Pakistani Muslim adolescent females residing in the United States. In-depth, semi-structured interviews were conducted with thirty Pakistani Muslim adolescent females between the ages of 15 and 18 years living with their families in Houston, Texas. Data obtained from the interviews were evaluated using discourse analysis to identify major reoccurring themes. Participants discussed factors associated with the process of adaptation to the American culture. The results revealed that the main factors associated with adaptation process included positive motivation for migration, family bonding, social support networks, inter-familial communication, aspiration of adolescents to learn other cultures, availability of English-as-second-language programs, participation in community rebuilding activities, and faith practices, English proficiency, peer pressure, and inter-generational conflicts. This study provided much needed information on factors associated with adaptation process of Pakistani Muslim adolescent females in the United States. The results have important implications for improving the adaptation process of this group and offer potential directions for intervention and counseling services.

  18. Comparative metal distribution in scalp hair of Pakistani and Irish referents and hypertensive patients.

    PubMed

    Afridi, Hassan Imran; Brabazon, Dermot; Kazi, Tasneem Gul; Naher, Sumsun; Nesterenko, Ekaterina

    2011-12-01

    The abnormal metabolism of metal ions plays an important role in health and disease conditions, and studies about them have been attracting significant interest. The aim of our study was to assess the heavy metals (cadmium (Cd), nickel (Ni), lead (Pb), and zinc (Zn)) in scalp hair samples of 50 Irish and 78 Pakistani hypertensive patients of an urban population together with 50 Irish and 96 Pakistani non-hypertensive male subjects in the age group of 30-50 years. The concentrations of trace and toxic elements were measured by inductively coupled plasma-atomic emission spectrophotometer and atomic absorption spectrophotometer before microwave-assisted acid digestion. The validity and accuracy of the methodology were checked using certified reference materials, and by the conventional wet acid digestion method on the same certified reference materials and on real samples. The recovery of all the studied elements was found to be in the range of 97.5-99.7% in certified reference material. The results of this study showed that the mean values of cadmium, nickel, and lead were significantly higher in scalp hair samples of both Pakistani and Irish hypertensive patients than in referents (p < 0.001); whereas, the concentration of zinc was lower in the scalp hair samples of hypertensive patients of both genders. The deficiency of zinc and the high exposure of trace and toxic metals may be the risk factors associated with hypertension.

  19. Missense mutation (E150K) of rhodopsin in autosomal recessive retinitis pigmentosa

    SciTech Connect

    Orth, U.; Oehlmann, R.; Gal, A.

    1994-09-01

    Missense or nonsense mutations of the rhodopsin gene have been implied in the pathogenesis of at least 3 different traits; autosomal dominant retinitis pigmentosa (adRP), congenital stationary night blindness (CSNB), and autosomal recessive retinitis pigmentosa (arRP). For the latter, a single patient has been reported with a nonsense mutation at codon 249 on both alleles. Heterozygous carriers of missense mutations of rhodopsin develop either adRP or CSNB depending on the particular amino acid substitution. Four of the 9 siblings from a consanguineous marriage in southern India were reported the have arRP. Mutational screening and sequencing of the rhodopsin gene revealed a G-to-A transition of the first nucleotide at codon 150 in exon II, which alters glutamate to lysine. The E150K mutation was present in the 4 patients in homozygous form, whereas the parents and 2 of the siblings were heterozygotes. Two-point analysis produced a Zmax=3.46 at theta=0.00. Two unaffected siblings who are heterozygotes for the E150K mutation underwent a thorough ophthalmological and psychophysical examination. No clinical abnormalities were found although these individuals were over forty, whereas the onset of RP in their affected siblings was in the second decade. Collectively, both the genetic and clinical findings strongly suggest that the E150K mutation of rhodopsin is recessive in this family. Glu150 forms part of the CD cytoplasmic loop of rhodopsin, which has been implicated in the binding and activation of transducin. We speculate that E150K leads to RP because the mutant protein may be incapable of activating transducin. It is tempting to speculate that, in addition to mutations in the genes for rhodopsin and the {beta}-subunit of PDE, mutations in the genes for transducin may also result in arRP.

  20. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.

    PubMed

    Camacho Vanegas, O; Bertini, E; Zhang, R Z; Petrini, S; Minosse, C; Sabatelli, P; Giusti, B; Chu, M L; Pepe, G

    2001-06-19

    Ullrich syndrome is a recessive congenital muscular dystrophy affecting connective tissue and muscle. The molecular basis is unknown. Reverse transcription-PCR amplification performed on RNA extracted from fibroblasts or muscle of three Ullrich patients followed by heteroduplex analysis displayed heteroduplexes in one of the three genes coding for collagen type VI (COL6). In patient A, we detected a homozygous insertion of a C leading to a premature termination codon in the triple-helical domain of COL6A2 mRNA. Both healthy consanguineous parents were carriers. In patient B, we found a deletion of 28 nucleotides because of an A --> G substitution at nucleotide -2 of intron 17 causing the activation of a cryptic acceptor site inside exon 18. The second mutation was an exon skipping because of a G --> A substitution at nucleotide -1 of intron 23. Both mutations are present in an affected brother. The first mutation is also present in the healthy mother, whereas the second mutation is carried by their healthy father. In patient C, we found only one mutation so far-the same deletion of 28 nucleotides found in patient B. In this case, it was a de novo mutation, as it is absent in her parents. mRNA and protein analysis of patient B showed very low amounts of COL6A2 mRNA and of COL6. A near total absence of COL6 was demonstrated by immunofluorescence in fibroblasts and muscle. Our results demonstrate that Ullrich syndrome is caused by recessive mutations leading to a severe reduction of COL6.

  1. Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

    PubMed Central

    Kwasniewska, Alexandra; Sadighi Akha, Elham; Parolin Schnekenberg, Ricardo; Suminaite, Daumante; Hope, Jilly; Baker, Ian; Gregory, Lorna; Green, Angie; Allan, Chris; Lamble, Sarah; Jayawant, Sandeep; Quaghebeur, Gerardine; Cader, M. Zameel; Hughes, Sarah; Armstrong, Richard J. E.; Kanapin, Alexander; Rimmer, Andrew; Lunter, Gerton; Mathieson, Iain; Cazier, Jean-Baptiste; Buck, David; Taylor, Jenny C.; Bentley, David; McVean, Gilean; Donnelly, Peter; Knight, Samantha J. L.; Jackson, Mandy; Ragoussis, Jiannis; Németh, Andrea H.

    2012-01-01

    β-III spectrin is present in the brain and is known to be important in the function of the cerebellum. Heterozygous mutations in SPTBN2, the gene encoding β-III spectrin, cause Spinocerebellar Ataxia Type 5 (SCA5), an adult-onset, slowly progressive, autosomal-dominant pure cerebellar ataxia. SCA5 is sometimes known as “Lincoln ataxia,” because the largest known family is descended from relatives of the United States President Abraham Lincoln. Using targeted capture and next-generation sequencing, we identified a homozygous stop codon in SPTBN2 in a consanguineous family in which childhood developmental ataxia co-segregates with cognitive impairment. The cognitive impairment could result from mutations in a second gene, but further analysis using whole-genome sequencing combined with SNP array analysis did not reveal any evidence of other mutations. We also examined a mouse knockout of β-III spectrin in which ataxia and progressive degeneration of cerebellar Purkinje cells has been previously reported and found morphological abnormalities in neurons from prefrontal cortex and deficits in object recognition tasks, consistent with the human cognitive phenotype. These data provide the first evidence that β-III spectrin plays an important role in cortical brain development and cognition, in addition to its function in the cerebellum; and we conclude that cognitive impairment is an integral part of this novel recessive ataxic syndrome, Spectrin-associated Autosomal Recessive Cerebellar Ataxia type 1 (SPARCA1). In addition, the identification of SPARCA1 and normal heterozygous carriers of the stop codon in SPTBN2 provides insights into the mechanism of molecular dominance in SCA5 and demonstrates that the cell-specific repertoire of spectrin subunits underlies a novel group of disorders, the neuronal spectrinopathies, which includes SCA5, SPARCA1, and a form of West syndrome. PMID:23236289

  2. The rate of consanguineous marriages among parents of schizophrenic patients in the Arab Bedouin population in Southern Israel.

    PubMed

    Dobrusin, Michael; Weitzman, Dahlia; Levine, Joseph; Kremer, Ilana; Rietschel, Marcella; Maier, Wolfgang; Belmaker, Robert H

    2009-01-01

    Consanguinity may contribute to the incidence of schizophrenia in offspring despite the usually accepted polygenic model of schizophrenia inheritance. Bedouin Arab families in southern Israel have a high rate of cousin marriages as do families throughout most Arab societies. We studied consanguinity in the parents of schizophrenic patients admitted in a defined catchment area of southern Israel, compared to a control group of parents of all infants born to Bedouin mothers in this catchment area. There was a small but significant increase in the rate of cousin marriages among the parents of schizophrenia patients compared to parents of infant controls. These results are consistent with claims that inbreeding can contribute to the incidence of schizophrenia even as a polygenic illness. However, the absence of a better matched control group limits confidence in the results.

  3. Large bimedial rectus recessions in congenital esotropia.

    PubMed Central

    Szmyd, S. M.; Nelson, L. B.; Calhoun, J. H.; Spratt, C.

    1985-01-01

    The success rate of large (6 and 7 mm) bimedial rectus recessions in 45 congenital esotropes with deviations of 50 prism dioptres or greater was found to be 91%. Judgment of final alignment was made six weeks postoperatively, with an average follow-up of 13 months. Large bimedial rectus recessions are an effective surgical treatment for congenital esotropia. This procedure does not significantly alter adduction, and leaves other muscles available should further surgery be necessary. These findings show that initial surgery on three or more muscles is unnecessary in congenital esotropia. PMID:3994944

  4. Glacier recession in Iceland and Austria

    SciTech Connect

    Hall, D.K.; Williams, R.S. Jr.; Bayr, K.J. USGS, Reston, VA Keene State College, NH )

    1992-03-01

    It has been possible to measure glacier recession on the basis of Landsat data, in conjunction with comparisons of the magnitude of recession of a glacier margin with in situ measurements at fixed points along the same margin. Attention is presently given to the cases of Vatnajokull ice cap, in Iceland, and the Pasterze Glacier, in Austria, on the basis of satellite data from 1973-1987 and 1984-1990, respectively. Indications of a trend toward negative mass balance are noted. Nevertheless, while most of the world's small glaciers have been receding, some are advancing either due to local climate or the tidewater glacier cycle. 21 refs.

  5. Glacier recession in Iceland and Austria

    NASA Technical Reports Server (NTRS)

    Hall, Dorothy K.; Williams, Richard S., Jr.; Bayr, Klaus J.

    1992-01-01

    It has been possible to measure glacier recession on the basis of Landsat data, in conjunction with comparisons of the magnitude of recession of a glacier margin with in situ measurements at fixed points along the same margin. Attention is presently given to the cases of Vatnajokull ice cap, in Iceland, and the Pasterze Glacier, in Austria, on the basis of satellite data from 1973-1987 and 1984-1990, respectively. Indications of a trend toward negative mass balance are noted. Nevertheless, while most of the world's small glaciers have been receding, some are advancing either due to local climate or the tidewater glacier cycle.

  6. 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

  7. Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.

    PubMed

    Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S; El-Khayat, Hamed A; Eid, Ola M; Saba, Soliman; Farag, Mona K; Saleem, Sahar N; Gaber, Khaled R

    2015-05-01

    The term fetal brain disruption sequence (FBDS) was coined to describe a number of sporadic conditions caused by numerous external disruptive events presenting with variable imaging findings. However, rare familial occurrences have been reported. We describe five patients (two sib pairs and one sporadic) with congenital severe microcephaly, seizures, and profound intellectual disability. Brain magnetic resonance imaging (MRI) revealed unique and uniform picture of underdeveloped cerebral hemispheres with increased extraxial CSF, abnormal gyral pattern (polymicrogyria-like lesions in two sibs and lissencephaly in the others), loss of white matter, dysplastic ventricles, hypogenesis of corpus callosum, and hypoplasia of the brainstem, but hypoplastic cerebellum in one. Fetal magnetic resonance imaging (FMRI) of two patients showed the same developmental brain malformations in utero. These imaging findings are in accordance with arrested brain development rather than disruption. Molecular analysis excluded mutations in potentially related genes such as NDE1, MKL2, OCLN, and JAM3. These unique clinical and imaging findings were described before among familial reports with FBDS. However, our patients represent a recognizable phenotype of developmental brain malformations, that is, apparently distinguishable from either familial microhydranencephaly or microlissencephaly that were collectively termed FBDS. Thus, the use of the umbrella term FBDS is no longer helpful. Accordingly, we propose the term fetal brain arrest to distinguish them from other familial patients diagnosed as FBDS. The presence of five affected patients from three unrelated consanguineous families suggests an autosomal-recessive mode of inheritance. The spectrum of fetal brain disruption sequence is reviewed.

  8. Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

    PubMed Central

    Iqbal, Zafar; Püttmann, Lucia; Musante, Luciana; Razzaq, Attia; Zahoor, Muhammad Yasir; Hu, Hao; Wienker, Thomas F; Garshasbi, Masoud; Fattahi, Zohreh; Gilissen, Christian; Vissers, Lisenka ELM; de Brouwer, Arjan PM; Veltman, Joris A; Pfundt, Rolph; Najmabadi, Hossein; Ropers, Hans-Hilger; Riazuddin, Sheikh; Kahrizi, Kimia; van Bokhoven, Hans

    2016-01-01

    AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins, which catalyze the ligation of amino acids to their cognate tRNA isoacceptors for use in protein translation. To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative disorder. Here, we present two consanguineous families from Pakistan and Iran, presenting with moderate to severe intellectual disability, global developmental delay, and speech impairment without neurodegeneration. By the combination of homozygosity mapping and next generation sequencing, we identified two homozygous missense variants, p.(Gly299Arg) and p.(Val176Gly), in the gene AIMP1 that co-segregated with the phenotype in the respective families. Molecular modeling of the variants revealed deleterious effects on the protein structure that are predicted to result in reduced AIMP1 function. Our findings indicate that the clinical spectrum for AIMP1 defects is broader than witnessed so far. PMID:26173967

  9. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

    PubMed

    Thomas, Anna C; Williams, Hywel; Setó-Salvia, Núria; Bacchelli, Chiara; Jenkins, Dagan; O'Sullivan, Mary; Mengrelis, Konstantinos; Ishida, Miho; Ocaka, Louise; Chanudet, Estelle; James, Chela; Lescai, Francesco; Anderson, Glenn; Morrogh, Deborah; Ryten, Mina; Duncan, Andrew J; Pai, Yun Jin; Saraiva, Jorge M; Ramos, Fabiana; Farren, Bernadette; Saunders, Dawn; Vernay, Bertrand; Gissen, Paul; Straatmaan-Iwanowska, Anna; Baas, Frank; Wood, Nicholas W; Hersheson, Joshua; Houlden, Henry; Hurst, Jane; Scott, Richard; Bitner-Glindzicz, Maria; Moore, Gudrun E; Sousa, Sérgio B; Stanier, Philip

    2014-11-06

    Intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected individuals from three unrelated consanguineous families who presented with recessively inherited moderate-severe intellectual disability, cerebellar ataxia, early-onset cerebellar atrophy, sensorineural hearing loss, and the distinctive association of progressively coarsening facial features, relative macrocephaly, and the absence of seizures. We used homozygosity mapping and whole-exome sequencing to identify a homozygous nonsense mutation and an in-frame multiexon deletion in two families. A homozygous splice site mutation was identified by Sanger sequencing of SNX14 in a third family, selected purely by phenotypic similarity. This discovery confirms that these characteristic features represent a distinct and recognizable syndrome. SNX14 encodes a cellular protein containing Phox (PX) and regulator of G protein signaling (RGS) domains. Weighted gene coexpression network analysis predicts that SNX14 is highly coexpressed with genes involved in cellular protein metabolism and vesicle-mediated transport. All three mutations either directly affected the PX domain or diminished SNX14 levels, implicating a loss of normal cellular function. This manifested as increased cytoplasmic vacuolation as observed in cultured fibroblasts. Our findings indicate an essential role for SNX14 in neural development and function, particularly in development and maturation of the cerebellum.

  10. A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.

    PubMed

    Ghafouri-Fard, Soudeh; Fardaei, Majid; Gholami, Milad; Miryounesi, Mohammad

    2015-10-15

    Autosomal Recessive Primary Microcephaly (MCPH-MIM 251200) is distinguished by congenital decrease in occipito-frontal head circumference (OFC) of at least 2 standard deviations (SD) below population average in addition to non-progressive mental retardation, without any prominent neurological disorder. Mutations in MCPH1, which encodes the protein microcephalin have been detected in this disorder. Here we report a consanguineous Iranian family with 2 children affected with microcephaly. Despite the severe mental retardation observed in the male patient, the female patient had normal intelligent with no delay in motor milestones or speech. A novel splice-acceptor site homozygous mutation has been detected in intron 4 of MCPH1 gene (c.322-2A>T) which results in an RNA processing defect with a 15-nucleotide deletion in exon 5 of the mRNA transcript (r.322_336del15, p.R108_Q112del5). This novel mutation has resulted in different phenotypes in affected male and female patients of this family. The sex-specific variations in gene regulation during brain development may partially explain such difference in phenotypes probably in addition to other mechanisms such as modifier genes.

  11. Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

    PubMed

    Iqbal, Zafar; Püttmann, Lucia; Musante, Luciana; Razzaq, Attia; Zahoor, Muhammad Yasir; Hu, Hao; Wienker, Thomas F; Garshasbi, Masoud; Fattahi, Zohreh; Gilissen, Christian; Vissers, Lisenka E L M; de Brouwer, Arjan P M; Veltman, Joris A; Pfundt, Rolph; Najmabadi, Hossein; Ropers, Hans-Hilger; Riazuddin, Sheikh; Kahrizi, Kimia; van Bokhoven, Hans

    2016-03-01

    AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins, which catalyze the ligation of amino acids to their cognate tRNA isoacceptors for use in protein translation. To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative disorder. Here, we present two consanguineous families from Pakistan and Iran, presenting with moderate to severe intellectual disability, global developmental delay, and speech impairment without neurodegeneration. By the combination of homozygosity mapping and next generation sequencing, we identified two homozygous missense variants, p.(Gly299Arg) and p.(Val176Gly), in the gene AIMP1 that co-segregated with the phenotype in the respective families. Molecular modeling of the variants revealed deleterious effects on the protein structure that are predicted to result in reduced AIMP1 function. Our findings indicate that the clinical spectrum for AIMP1 defects is broader than witnessed so far.

  12. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

    PubMed Central

    Marrone, Anna; Walne, Amanda; Tamary, Hannah; Masunari, Yuka; Kirwan, Michael; Beswick, Richard; Vulliamy, Tom; Dokal, Inderjeet

    2010-01-01

    Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and an increased predisposition to malignancy. X-linked DC is due to mutations in DKC1, while heterozygous mutations in TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) have been found in autosomal dominant DC. Many patients with DC remain uncharacterized, particularly families displaying autosomal recessive (AR) inheritance. We have now identified novel homozygous TERT mutations in 2 unrelated consanguineous families, where the index cases presented with classical DC or the more severe variant, Hoyeraal-Hreidarsson (HH) syndrome. These TERT mutations resulted in reduced telomerase activity and extremely short telomeres. As these mutations are homozygous, these patients are predicted to have significantly reduced telomerase activity in vivo. Interestingly, in contrast to patients with heterozygous TERT mutations or hemizygous DKC1 mutations, these 2 homozygous TERT patients were observed to have higher-than-expected TERC levels compared with controls. Collectively, the findings from this study demonstrate that homozygous TERT mutations, resulting in a pure but severe telomerase deficiency, produce a phenotype of classical AR-DC and its severe variant, the HH syndrome. PMID:17785587

  13. Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.

    PubMed

    Pavithra, Amritkumar; Chandru, Jayasankaran; Jeffrey, Justin Margret; Karthikeyen, N P; Srisailapathy, C R Srikumari

    2017-01-01

    Connexin 26 (Cx-26), a gap junction protein coded by GJB2 gene, plays a very important role in recycling of potassium ions, one of the vital steps in the mechanotransduction process of hearing. Mutations in the GJB2 gene have been associated with both autosomal recessive as well as dominant nonsyndromic hearing loss. As Cx-26 is linked with skin homeostasis, mutations in this gene are sometimes associated with syndromic forms of hearing loss showing skin anomalies. We report here a non consanguineous assortatively mating hearing impaired family with one of the hearing impaired partners, their hearing impaired sibling and hearing impaired offspring showing compound heterozygosity in the GJB2 gene, involving a dominant mutation p.R184Q and two recessive mutations p.Q124X and c.IVS 1+1G>A in a unique triallelic combination. To the best of our knowledge, this is the first report from India on p.R184Q mutation in the GJB2 gene associated with rare compound heterozygosity showing nonsyndromic presentation.

  14. [Periodontology and esthetics: the gingival recession].

    PubMed

    Corba, N H

    1991-06-01

    Gingival recessions are regarded by many people as an esthetical problem. Successively the etiology, the significance and the indications for therapy are discussed. Different kinds of therapy such as oral hygiene instruction, the free gingival graft and various pedicle grafts are explained. Finally it is advocated that surgical kinds of therapy have to be applied with reservedness.

  15. Weathering the Recession in College Health

    ERIC Educational Resources Information Center

    Christmas, William A.

    2010-01-01

    The current global recession has increased personal stress levels throughout our society. With dwindling resources, institutions of higher learning are especially prone to budgetary cutbacks during such periods. Based on 22 years of experience as a health service director, the author offers some personal insights in the hope that they will help…

  16. The Global Picture. Recession to Recovery

    ERIC Educational Resources Information Center

    Universities UK, 2010

    2010-01-01

    The objectives of this study were to: (1) document government and HE (higher education) sector responses to the recession within a select number of key countries which compete with the UK; and (2) compare these responses and analyse them by theme to draw out any common patterns. The focus of the work was to find, where possible, an evidence base…

  17. Gender Differences during Recess in Elementary Schools.

    ERIC Educational Resources Information Center

    Twarek, Linda S.; George, Halley S.

    A study examined the differences in what boys and girls choose, or are free to choose, to do on the playground during recess. Given the apparent problem that boys dominate the playground area, leaving girls on the perimeter, it was hypothesized that girls engage in passive, non-competitive, small group activities, whereas boys engage in…

  18. Recession curbs gas pipeline construction costs

    SciTech Connect

    Morgan, J.M.

    1983-01-24

    This paper shows how after 5 yrs. of inflation, gas pipeline construction costs have finally felt the effects of a severe building recession. First quarter (1982) construction activity, compressor equipment and drive units, and high-pressure gas-station piping are discussed. Graphs of OGJ-Morgan composite gas pipeline cost, and gas pipeline cost component indexes are presented.

  19. Naval stores markets on hold during recession

    SciTech Connect

    Layman, P.

    1982-03-22

    A review of the current state of the market and level of inventory stocks of turpentine and tall oil and its derivatives. It is concluded that pricing is soft as major markets suffer through recession, but that recovery may be quick in some areas where inventory stocks are low.

  20. Reclaiming Recess: Learning the Language of Persuasion

    ERIC Educational Resources Information Center

    Gebhard, Meg; Harman, Ruth; Seger, Wendy

    2007-01-01

    Using a case study approach, the authors describe how a teacher used the tools of systemic functional linguistics (SFL) to teach her fifth grade English Language Learners how to use academic language to challenge school policies regarding recess. In reflecting on these data, we discuss the potential of SFL to support teachers in responding to…

  1. Nevada, the Great Recession, and Education

    ERIC Educational Resources Information Center

    Verstegen, Deborah A.

    2013-01-01

    The impact of the Great Recession and its aftermath has been devastating in Nevada, especially for public education. This article discusses the budget shortfalls and the impact of the economic crisis in Nevada using case study methodology. It provides a review of documents, including Governor Gibbon's proposals for the public K-12 education system…

  2. Gender Discrimination in Death Reportage: Reconnoitering Disparities through a Comparative Analysis of Male and Female Paid Obituaries of Pakistani English Newspapers

    ERIC Educational Resources Information Center

    Chaudhry, Sajid M.; Christopher, Anne A.; Krishnasamy, Hariharan A/L N.

    2014-01-01

    The study examines the issue of gender discrimination in the post death scenario of obituarial discourse. It aims to identify the way Pakistani newspaper obituaries recognize and project males and females after their deaths. A total of 601 paid obituaries published in a year's time span in Pakistani English newspapers were evaluated for the…

  3. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

    PubMed Central

    Lesage, Suzanne; Drouet, Valérie; Majounie, Elisa; Deramecourt, Vincent; Jacoupy, Maxime; Nicolas, Aude; Cormier-Dequaire, Florence; Hassoun, Sidi Mohamed; Pujol, Claire; Ciura, Sorana; Erpapazoglou, Zoi; Usenko, Tatiana; Maurage, Claude-Alain; Sahbatou, Mourad; Liebau, Stefan; Ding, Jinhui; Bilgic, Basar; Emre, Murat; Erginel-Unaltuna, Nihan; Guven, Gamze; Tison, François; Tranchant, Christine; Vidailhet, Marie; Corvol, Jean-Christophe; Krack, Paul; Leutenegger, Anne-Louise; Nalls, Michael A.; Hernandez, Dena G.; Heutink, Peter; Gibbs, J. Raphael; Hardy, John; Wood, Nicholas W.; Gasser, Thomas; Durr, Alexandra; Deleuze, Jean-François; Tazir, Meriem; Destée, Alain; Lohmann, Ebba; Kabashi, Edor; Singleton, Andrew; Corti, Olga; Brice, Alexis; Lesage, Suzanne; Tison, François; Vidailhet, Marie; Corvol, Jean-Christophe; Agid, Yves; Anheim, Mathieu; Bonnet, Anne-Marie; Borg, Michel; Broussolle, Emmanuel; Damier, Philippe; Destée, Alain; Dürr, Alexandra; Durif, Franck; Krack, Paul; Klebe, Stephan; Lohmann, Ebba; Martinez, Maria; Pollak, Pierre; Rascol, Olivier; Tranchant, Christine; Vérin, Marc; Viallet, François; Brice, Alexis; Lesage, Suzanne; Majounie, Elisa; Tison, François; Vidailhet, Marie; Corvol, Jean Christophe; Nalls, Michael A.; Hernandez, Dena G.; Gibbs, J. Raphael; Dürr, Alexandra; Arepalli, Sampath; Barker, Roger A.; Ben-Shlomo, Yoav; Berg, Daniela; Bettella, Francesco; Bhatia, Kailash; de Bie, Rob M.A.; Biffi, Alessandro; Bloem, Bastiaan R.; Bochdanovits, Zoltan; Bonin, Michael; Lesage, Suzanne; Tison, François; Vidailhet, Marie; Corvol, Jean-Christophe; Agid, Yves; Anheim, Mathieu; Bonnet, Anne-Marie; Borg, Michel; Broussolle, Emmanuel; Damier, Philippe; Destée, Alain; Dürr, Alexandra; Durif, Franck; Krack, Paul; Klebe, Stephan; Lohmann, Ebba; Martinez, Maria; Pollak, Pierre; Rascol, Olivier; Tranchant, Christine; Vérin, Marc; Bras, Jose M.; Brockmann, Kathrin; Brooks, Janet; Burn, David J.; Charlesworth, Gavin; Chen, Honglei; Chinnery, Patrick F.; Chong, Sean; Clarke, Carl E.; Cookson, Mark R.; Counsell, Carl; Damier, Philippe; Dartigues, Jean-François; Deloukas, Panos; Deuschl, Günther; Dexter, David T.; van Dijk, Karin D.; Dillman, Allissa; Dong, Jing; Durif, Frank; Edkins, Sarah; Escott-Price, Valentina; Evans, Jonathan R.; Foltynie, Thomas; Gao, Jianjun; Gardner, Michelle; Goate, Alison; Gray, Emma; Guerreiro, Rita; Harris, Clare; van Hilten, Jacobus J.; Hofman, Albert; Hollenbeck, Albert; Holmans, Peter; Holton, Janice; Hu, Michèle; Huang, Xuemei; Huber, Heiko; Hudson, Gavin; Hunt, Sarah E.; Huttenlocher, Johanna; Illig, Thomas; Jónsson, Pálmi V.; Kilarski, Laura L.; Jansen, Iris E.; Lambert, Jean-Charles; Langford, Cordelia; Lees, Andrew; Lichtner, Peter; Limousin, Patricia; Lopez, Grisel; Lorenz, Delia; Lubbe, Steven; Lungu, Codrin; Martinez, María; Mätzler, Walter; McNeill, Alisdair; Moorby, Catriona; Moore, Matthew; Morrison, Karen E.; Mudanohwo, Ese; O’Sullivan, Sean S.; Owen, Michael J.; Pearson, Justin; Perlmutter, Joel S.; Pétursson, Hjörvar; Plagnol, Vincent; Pollak, Pierre; Post, Bart; Potter, Simon; Ravina, Bernard; Revesz, Tamas; Riess, Olaf; Rivadeneira, Fernando; Rizzu, Patrizia; Ryten, Mina; Saad, Mohamad; Simón-Sánchez, Javier; Sawcer, Stephen; Schapira, Anthony; Scheffer, Hans; Schulte, Claudia; Sharma, Manu; Shaw, Karen; Sheerin, Una-Marie; Shoulson, Ira; Shulman, Joshua; Sidransky, Ellen; Spencer, Chris C.A.; Stefánsson, Hreinn; Stefánsson, Kári; Stockton, Joanna D.; Strange, Amy; Talbot, Kevin; Tanner, Carlie M.; Tashakkori-Ghanbaria, Avazeh; Trabzuni, Daniah; Traynor, Bryan J.; Uitterlinden, André G.; Velseboer, Daan; Walker, Robert; van de Warrenburg, Bart; Wickremaratchi, Mirdhu; Williams-Gray, Caroline H.; Winder-Rhodes, Sophie; Wurster, Isabel; Williams, Nigel; Morris, Huw R.; Heutink, Peter; Hardy, John; Wood, Nicholas W.; Gasser, Thomas; Singleton, Andrew B.; Brice, Alexis

    2016-01-01

    Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in vacuolar protein sorting 13C (VPS13C). VPS13C mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. In cell models, VPS13C partly localized to the outer membrane of mitochondria. Silencing of VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 in response to mitochondrial damage. This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression. PMID:26942284

  4. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

    PubMed

    Lesage, Suzanne; Drouet, Valérie; Majounie, Elisa; Deramecourt, Vincent; Jacoupy, Maxime; Nicolas, Aude; Cormier-Dequaire, Florence; Hassoun, Sidi Mohamed; Pujol, Claire; Ciura, Sorana; Erpapazoglou, Zoi; Usenko, Tatiana; Maurage, Claude-Alain; Sahbatou, Mourad; Liebau, Stefan; Ding, Jinhui; Bilgic, Basar; Emre, Murat; Erginel-Unaltuna, Nihan; Guven, Gamze; Tison, François; Tranchant, Christine; Vidailhet, Marie; Corvol, Jean-Christophe; Krack, Paul; Leutenegger, Anne-Louise; Nalls, Michael A; Hernandez, Dena G; Heutink, Peter; Gibbs, J Raphael; Hardy, John; Wood, Nicholas W; Gasser, Thomas; Durr, Alexandra; Deleuze, Jean-François; Tazir, Meriem; Destée, Alain; Lohmann, Ebba; Kabashi, Edor; Singleton, Andrew; Corti, Olga; Brice, Alexis

    2016-03-03

    Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in vacuolar protein sorting 13C (VPS13C). VPS13C mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. In cell models, VPS13C partly localized to the outer membrane of mitochondria. Silencing of VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 in response to mitochondrial damage. This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression.

  5. A systematic search for linkage with nonsyndromic recessive deafness in two large Middle Eastern inbred kindreds excludes more than 30% of the genome

    SciTech Connect

    Weiss, S.; Korostishevsky, M.; Frydman, M.

    1994-09-01

    It has been estimated that as many as 35 loci may individually cause autosomal recessive non-syndromic deafness. The extreme genetic heterogeneity, limited clinical differentiation and phenotypic assortative mating in many western countries make many families unsuitable for genetic linkage studies. Recently the first of those loci was mapped (to 13q) in two consanguineous families from northern Tunisia. We are studying two large highly consanguineous Middle Eastern kindreds (a total of 26 deaf in 98 sampled individuals). Examination in each family showed no evidence of clinical heterogeneity and indicated an uncomplicated profound bilateral sensorineural deafness. We have been able to exclude the 13q locus as the cause of deafness in each kindred and have also excluded such `candidate` loci as regions as those causing Usher`s syndrome type 1 (11q13)(11p), Usher`s syndrome type II (1q32-q41), Waardenburg syndrome type I (2q37), branchio-oto-renal syndrome (8q12-q13), Monge`s deafness (5q31), and Treacher Collins syndrome (5q31.3-q33.3). To date, no lod scores greater than 1 have been obtained in either kindred using 150 RFLT`s, VNTR`s and highly polymorphic microsatellite markers (CA repeats and tetranucleotides). By Morton`s criterion a minimum of 30% of the autosomal genome can be excluded for each kindred separately.

  6. Cognitive-behavioral treatment of a second-generation child of Pakistani descent: ethnocultural and clinical considerations.

    PubMed

    Mahr, Fauzia; McLachlan, Niel; Friedberg, Robert D; Mahr, Safia; Pearl, Amanda M

    2015-01-01

    Ethnocultural variables in cognitive behavioral therapy (CBT) are gaining an increasing amount of attention. This is a welcome development since cultural responsiveness is a core element in ethical and effective CBT practice. However, the literature is sparse and generally silent regarding CBT with children of Pakistani descent. Accordingly, this case based article attempts to close the knowledge gap by reviewing the extant literature pertaining to the role of religion, help seeking behavior, and emotional expression in Pakistani families. The literature review is followed by a case discussion of an 11 year old second generation Pakistani male living in the United Kingdom who is struggling with posttraumatic stress disorder (PTSD). The case presentation highlights the importance of culturally informed case conceptualization and individually tailored interventions. The case illustrates the way cognitive behavioral psychotherapy balanced empirically based procedures with a sensitive appreciation of cultural context.

  7. Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

    PubMed

    Law, Rosalind; Dixon-Salazar, Tracy; Jerber, Julie; Cai, Na; Abbasi, Ansar A; Zaki, Maha S; Mittal, Kirti; Gabriel, Stacey B; Rafiq, Muhammad Arshad; Khan, Valeed; Nguyen, Maria; Ali, Ghazanfar; Copeland, Brett; Scott, Eric; Vasli, Nasim; Mikhailov, Anna; Khan, Muhammad Nasim; Andrade, Danielle M; Ayaz, Muhammad; Ansar, Muhammad; Ayub, Muhammad; Vincent, John B; Gleeson, Joseph G

    2014-12-04

    Dendritic spines represent the major site of neuronal activity in the brain; they serve as the receiving point for neurotransmitters and undergo rapid activity-dependent morphological changes that correlate with learning and memory. Using a combination of homozygosity mapping and next-generation sequencing in two consanguineous families affected by nonsyndromic autosomal-recessive intellectual disability, we identified truncating mutations in formin 2 (FMN2), encoding a protein that belongs to the formin family of actin cytoskeleton nucleation factors and is highly expressed in the maturing brain. We found that FMN2 localizes to punctae along dendrites and that germline inactivation of mouse Fmn2 resulted in animals with decreased spine density; such mice were previously demonstrated to have a conditioned fear-learning defect. Furthermore, patient neural cells derived from induced pluripotent stem cells showed correlated decreased synaptic density. Thus, FMN2 mutations link intellectual disability either directly or indirectly to the regulation of actin-mediated synaptic spine density.

  8. Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation

    ERIC Educational Resources Information Center

    Zaki, Maha S.; Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic "butterfly"-like contour of the…

  9. Perceptions of the causes of childhood disability among Pakistani families living in the UK.

    PubMed

    Croot, E J; Grant, G; Cooper, C L; Mathers, N

    2008-12-01

    It has been well documented that South Asian families caring for a child with a disability experience discrimination and disadvantage in accessing health and social care services. This gives increasing cause for concern as the number of South Asian people with severe learning impairments in the UK continues to rise. Mainstream services are ill-equipped to provide individual services to parents who choose to define and address disability differently, and whose concerns and solutions may differ from the majority population, despite the fact that these parents possess many strengths and may present alternative ways of addressing their needs. This study aimed to provide a detailed account of the ways that Pakistani parents living in a northern city in the UK and caring for a child with a disability, account for and understand their child's disability. Sixteen in-depth interviews were carried out between October 2002 and July 2003, with Pakistani parents and one grandparent of children with a disability. All final transcripts were in English, and a thematic analysis was undertaken. Results include a detailed account of parents' understanding of the causes of their child's disability. All parents made reference to theological explanations as to why they had a child with a disability; however, most parents also gave biomedical or other explanations. The relationship between theological and biomedical explanations was explored along with the consequences of the different beliefs for individuals and families. Parents also spoke vividly about the impact of negative and stigmatizing beliefs about causes of disability which they felt were prevalent in the Pakistani community, and they used a biomedical discourse to refute these ideas. The authors suggest that knowledge of individual and family beliefs, and awareness of the impact of these beliefs, can provide a valuable conceptual lens for health and social care practitioners to use when working in family-centred, culturally

  10. Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis

    PubMed Central

    Wasim, Muhammad; Afzal, Sibtain; Shahzad, Muhammad Saqib; Ramzan, Shaiqa; Awan, Ali Raza; Anjum, Aftab Ahmed; Ramzan, Khushnooda

    2015-01-01

    Purpose Retinoblastoma (RB) is a rare intraocular malignant tumor of the developing retina with an estimated incidence of 1:20,000 live births in children under the age of 5 years. In addition to the abnormal whitish appearance of the pupil or leukocoria, strabismus has also been reported as a clinical symptom of the disease. RB1 is the first cloned tumor suppressor gene, and mutational inactivation of this gene is responsible for the development of RB during early childhood. The purpose of this study was to identify mutational alterations in the RB1 gene in Pakistani patients with RB. Methods During this study, 70 clinically evaluated patients with RB were recruited from different regions of Pakistan. The cases included 23 sporadic bilateral (32.9%), 34 sporadic unilateral (48.6%), nine familial bilateral (12.8%), and four familial unilateral (5.7%) cases. Constitutional causative mutations in the RB1 gene were screened via direct sequencing of all RB1 exons and their flanking regions. Results In this report, genetic testing resulted in the identification of 18 mutations in 25 patients with RB including six novel RB1 mutations. Of the total mutations identified, 13 (72.22%) were found to be null mutations caused by nine nonsense, three deletions, and one insertion. Two (11.11%) missense, two (11.11%) splice site mutations, and one (5.55%) base substitution in the promoter region were also found. Moreover, ten intronic variants were identified, one of which is novel. Conclusions Molecular screening and identification of these mutations in Pakistani patients with RB provide the mutational variants of the RB1 gene in the Pakistani population. The detection of oncogenic mutations in patients with RB and genetically predisposed individuals is a major step in clinical management, prognosis, follow-up care, accurate genetic counseling, and presymptomatic diagnosis of RB. PMID:26396485

  11. Dietary patterns of Pakistani adults and their associations with sociodemographic, anthropometric and life-style factors.

    PubMed

    Safdar, Nilofer F; Bertone-Johnson, Elizabeth; Cordeiro, Lorraine; Jafar, Tazeen H; Cohen, Nancy L

    2013-01-01

    Dietary pattern analysis is an epidemiological method designed to consider the complexity of food preferences and diet patterns of populations. Few studies from South Asia have used this methodology to describe population food intake. Our objective was to identify dietary patterns and understand their associations with sociodemographic, anthropometric and life-style factors among low-income Pakistani urban adults. Dietary information was collected by a thirty-three-item FFQ and dietary patterns were derived by principal component analyses in 5491 subjects enrolled in the Control of Blood Pressure and Risk Attenuation (COBRA) study. Three dietary patterns were identified: a fat and sweet pattern characterised by fried snacks/foods, desserts, organ meats, bakery products, Pakistani bread and food purchased from outside the home; a fruit and vegetable pattern including fruits, juices, raw and cooked vegetables, lean meat and low-fat milk; and a seafood and yogurt pattern identified by prawns, fish, potatoes and yogurt. The fat and sweet pattern scores were low among older subjects, those with high BMI and waist circumference but high among females and physically active participants. The fruit and vegetable pattern was associated with younger age, high BMI, education and non-tobacco use. The seafood and yogurt pattern was associated with high BMI, increased physical activity and non-tobacco use. In conclusion, distinct dietary patterns exist for the Pakistani population that may be related to some of the population characteristics and thus may have importance in suggesting dietary and life-style interventions in the prevention of chronic diseases.

  12. Association analysis of GWAS and candidate gene loci in a Pakistani population with psoriasis.

    PubMed

    Munir, Saeeda; ber Rahman, Simeen; Rehman, Sadia; Saba, Nusrat; Ahmad, Wasim; Nilsson, Staffan; Mazhar, Kehkashan; Naluai, Åsa Torinsson

    2015-03-01

    Psoriasis is a common inflammatory and hyper proliferative condition of the skin and a serious chronic systemic autoimmune disease. We undertook an association study to investigate the genetic etiology of psoriasis in a Pakistani population by genotyping single-nucleotide polymorphisms (SNPs) previously reported to be associated in genome-wide association (GWAS) or in candidate gene studies of psoriasis. Fifty seven single-nucleotide polymorphisms (SNPs) from 42 loci were genotyped in 533 psoriasis patients and 373 controls. Our results showed genome wide significant association of the MHC region (rs1265181 being the most significant from five SNPs used with overall OR=3.38; p=2.97E-18), as well as nominally significant associations at ten other loci (p<0.05) in the Pakistani population (LCE3B, REL, IL13/IL4, TNIP1, IL12B, TRAF3IP2, ZC3H12C, NOS2 and RNF114 from GWAS and PRR9 from a previous candidate gene study). Overall, only nine SNPs out of the 42 GWAS loci, displayed an odds ratio in the opposite allelic direction and only three did not reach similar odds ratio within 95% confidence interval as previously reported (SLC45A1/TNFRSF9, ELMO1 and IL28RA). This indicates similar genetic risk factors and molecular mechanisms behind disease in Pakistani psoriasis patients as in other populations. In addition, we show that the MHC and TNIP1 regions are significantly different in patients with psoriasis onset before the age of 40 (type I) compared to after 40 years of age (type II). MHC being associated mainly with type I while TNIP1 with type II patients.

  13. Autosomal recessive nonsyndromic deafness genes: a review.

    PubMed

    Duman, Duygu; Tekin, Mustafa

    2012-06-01

    More than 50 Percent of prelingual hearing loss is genetic in origin, and of these up to 93 Percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be recognized by their associated syndromic features, but in most cases, hearing loss is the only finding and is referred to as nonsyndromic deafness. To date, more than 700 different mutations have been identified in one of 42 genes in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL). Reported mutations in GJB2, encoding connexin 26, makes this gene the most common cause of hearing loss in many populations. Other relatively common deafness genes include SLC26A4, MYO15A, OTOF, TMC1, CDH23, and TMPRSS3. In this report we summarize genes and mutations reported in families with ARNSHL. Founder effects were demonstrated for some recurrent mutations but the most significant findings are the extreme locus and allelic heterogeneity and different spectrum of genes and mutations in each population.

  14. Semiconductor structure and recess formation etch technique

    DOEpatents

    Lu, Bin; Sun, Min; Palacios, Tomas Apostol

    2017-02-14

    A semiconductor structure has a first layer that includes a first semiconductor material and a second layer that includes a second semiconductor material. The first semiconductor material is selectively etchable over the second semiconductor material using a first etching process. The first layer is disposed over the second layer. A recess is disposed at least in the first layer. Also described is a method of forming a semiconductor structure that includes a recess. The method includes etching a region in a first layer using a first etching process. The first layer includes a first semiconductor material. The first etching process stops at a second layer beneath the first layer. The second layer includes a second semiconductor material.

  15. Pakistanis living in Oslo have lower serum 1,25-dihydroxyvitamin D levels but higher serum ionized calcium levels compared with ethnic Norwegians. The Oslo Health Study

    PubMed Central

    Holvik, Kristin; Meyer, Haakon E; Søgaard, Anne Johanne; Haug, Egil; Falch, Jan A

    2007-01-01

    Background Persons of Pakistani origin living in Oslo have a much higher prevalence of vitamin D deficiency and secondary hyperparathyroidism but similar bone mineral density compared with ethnic Norwegians. Our objective was to investigate whether Pakistani immigrants living in Oslo have an altered vitamin D metabolism by means of compensatory higher serum levels of 1,25-dihydroxyvitamin D (s-1,25(OH)2D) compared with ethnic Norwegians; and whether serum levels of ionized calcium (s-Ca2+) differ between Pakistanis and Norwegians. Methods In a cross-sectional, population-based study venous serum samples were drawn from 94 Pakistani men and 67 Pakistani women aged 30–60 years, and 290 Norwegian men and 270 Norwegian women aged 45–60 years; in total 721 subjects. Results Pakistanis had lower s-1,25(OH)2D compared with Norwegians (p < 0.001). Age- and gender adjusted mean (95% CI) levels were 93 (86, 99) pmol/l in Pakistanis and 123 (120, 126) pmol/l in Norwegians, p < 0.001. The difference persisted after controlling for body mass index. There was a positive relation between serum 25-hydroxyvitamin D (s-25(OH)D) and s-1,25(OH)2D in both groups. S-Ca2+ was higher in Pakistanis; age-adjusted mean (95% CI) levels were 1.28 (1.27, 1.28) mmol/l in Pakistanis and 1.26 (1.26, 1.26) mmol/l in Norwegians, p < 0.001. In both groups, s-Ca2+ was inversely correlated to serum intact parathyroid hormone levels (s-iPTH). For any s-iPTH, s-Ca2+ was higher in Pakistanis, also when controlling for age. Conclusion Community-dwelling Pakistanis in Oslo with low vitamin D status and secondary hyperparathyroidism have lower s-1,25(OH)2D compared with ethnic Norwegians. However, the Pakistanis have higher s-Ca2+. The cause of the higher s-Ca2+ in Pakistanis in spite of their higher iPTH remains unclear. PMID:17945003

  16. Cutting Symmetrical Recesses In Soft Ceramic Tiles

    NASA Technical Reports Server (NTRS)

    Nesotas, Tony C.; Tyler, Brent

    1989-01-01

    Simple tool cuts hemispherical recesses in soft ceramic tiles. Designed to expose wires of thermocouples embedded in tiles without damaging leads. Creates neat, precise holes around wires. End mill includes axial hole to accommodate thermocouple wires embedded in material to be cut. Wires pass into hole without being bent or broken. Dimensions in inches. Used in place of such tools as dental picks, tweezers, spatulas, and putty knives.

  17. Recession trims third-quarter building costs

    SciTech Connect

    Morgan, J.M.

    1983-05-09

    The composite cost index for building oil pipelines during the third quarter of 1982 showed a decrease of 0.96%. This decrease was due to a steady drop in the rate of inflation for most pipeline construction materials during the first 9 months of the year. The major thrust behind the pipeline materials decline was a sharp 5.3% drop in the average price of steel line pipe. However, the pipeline construction recession has failed to deter escalating pipeline labor rates.

  18. Semiconductor devices having a recessed electrode structure

    DOEpatents

    Palacios, Tomas Apostol; Lu, Bin; Matioli, Elison de Nazareth

    2015-05-26

    An electrode structure is described in which conductive regions are recessed into a semiconductor region. Trenches may be formed in a semiconductor region, such that conductive regions can be formed in the trenches. The electrode structure may be used in semiconductor devices such as field effect transistors or diodes. Nitride-based power semiconductor devices are described including such an electrode structure, which can reduce leakage current and otherwise improve performance.

  19. Posterior peritoneal recesses: assessment using CT

    SciTech Connect

    Rubenstein, W.A.; Auh, Y.H.; Zirinsky, K.; Kneeland, J.B.; Whalen, J.P.; Kazam, E.

    1985-08-01

    Intraperitoneal compartments may extend posteriorly to the level of known retroperitoneal structures at several locations within the abdomen. These locations include the posterior subhepatic or hepatorenal space, the splenorenal space, the retropancreatic recess, the paracolic gutters, and the pararectal fossae. Because of their posterior location, fluid collections within these compartments may be mistaken radiologically for retroperitoneal masses. The sectional anatomy of these spaces and particularly their appearance on computed tomographic scans, are illustrated in this paper.

  20. The politics of combating the organ trade: lessons from the Israeli and Pakistani experience.

    PubMed

    Efrat, A

    2013-07-01

    Israel and Pakistan--two major participants in the global organ trade--enacted legislative prohibitions on the trade at roughly the same time. The article highlights three influences that brought about this change of policy in both countries: advocacy by local physicians coupled with media coverage and reinforced by the international medical community. The analysis also explains why the two countries have differed with respect to the enforcement of the organ-trade prohibition. The insights from the Israeli and Pakistani cases will be of use for the transplant community's efforts against organ trafficking.

  1. Non-syndromic, autosomal-recessive deafness.

    PubMed

    Petersen, M B; Willems, P J

    2006-05-01

    Non-syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear disease genes reported so far. Autosomal-recessive genes are responsible for about 80% of the cases of hereditary non-syndromic deafness of pre-lingual onset with 23 different genes identified to date. In the present article, we review these 23 genes, their function, and their contribution to genetic deafness in different populations. The wide range of functions of these DFNB genes reflects the heterogeneity of the genes involved in hearing and hearing loss. Several of these genes are involved in both recessive and dominant deafness, or in both non-syndromic and syndromic deafness. Mutations in the GJB2 gene encoding connexin 26 are responsible for as much as 50% of pre-lingual, recessive deafness. By contrast, mutations in most of the other DFNB genes have so far been detected in only a small number of families, and their contribution to deafness on a population scale might therefore be limited. Identification of all genes involved in hereditary hearing loss will help in our understanding of the basic mechanisms underlying normal hearing, in early diagnosis and therapy.

  2. Etiology and occurrence of gingival recession - An epidemiological study

    PubMed Central

    Mythri, Sarpangala; Arunkumar, Suryanarayan Maiya; Hegde, Shashikanth; Rajesh, Shanker Kashyap; Munaz, Mohamed; Ashwin, Devasya

    2015-01-01

    Objectives: Gingival recession is the term used to characterize the apical shift of the marginal gingiva from its normal position on the crown of the tooth. It is frequently observed in adult subjects. The occurrence and severity of the gingival recession present considerable differences between populations. To prevent gingival recession from occurring, it is essential to detect the underlying etiology. The aim of the present study was to determine the occurrence of gingival recession and to identify the most common factor associated with the cause of gingival recession. Methods: A total of 710 subjects aged between 15 years to 60 years were selected. Data were collected by an interview with the help of a proforma and then the dental examination was carried out. The presence of gingival recession was recorded using Miller's classification of gingival recession. The Silness and Loe Plaque Index, Loe and Silness gingival index, community periodontal index were recorded. The data thus obtained were subjected to statistical analysis using Chi-square test and Student's unpaired t-test. Results: Of 710 subjects examined, 291 (40.98%) subjects exhibited gingival recession. The frequency of gingival recession was found to increase with age. High frequency of gingival recession was seen in males (60.5%) compared to females (39.5%). Gingival recession was commonly seen in mandibular incisors (43.0%). Miller's class I gingival recession was more commonly seen. The most common cause for gingival recession was dental plaque accumulation (44.1%) followed by faulty toothbrushing (42.7%). Conclusion: Approximately half of the subjects examined exhibited gingival recession. The etiology of gingival recession is multifactorial, and its appearance is always the result of more than one factor acting together. PMID:26941519

  3. Pakistani women's use of mental health services and the role of social networks: a systematic review of quantitative and qualitative research.

    PubMed

    Kapadia, Dharmi; Brooks, Helen Louise; Nazroo, James; Tranmer, Mark

    2015-11-22

    Pakistani women in the UK are an at-risk group with high levels of mental health problems, but low levels of mental health service use. However, the rates of service use for Pakistani women are unclear, partly because research with South Asian women has been incorrectly generalised to Pakistani women. Further, this research has been largely undertaken within an individualistic paradigm, with little consideration of patients' social networks, and how these may drive decisions to seek help. This systematic review aimed to clarify usage rates, and describe the nature of Pakistani women's social networks and how they may influence mental health service use. Ten journal databases (ASSIA, CINAHL Plus, EMBASE, HMIC, IBSS, MEDLINE, PsycINFO, Social Sciences Abstracts, Social Science Citation Index and Sociological Abstracts) and six sources of grey literature were searched for studies published between 1960 and the end of March 2014. Twenty-one studies met inclusion criteria. Ten studies (quantitative) reported on inpatient or outpatient service use between ethnic groups. Seven studies (four quantitative, three qualitative) investigated the nature of social networks, and four studies (qualitative) commented on how social networks were involved in accessing mental health services. Pakistani women were less likely than white (British) women to use most specialist mental health services. No difference was found between Pakistani and white women for the consultation of general practitioners for mental health problems. Pakistani women's networks displayed high levels of stigmatising attitudes towards mental health problems and mental health services, which acted as a deterrent to seeking help. No studies were found which compared stigma in networks between Pakistani women and women of other ethnic groups. Pakistani women are at a considerable disadvantage in gaining access to and using statutory mental health services, compared with white women; this, in part, is due to

  4. Event-scale power law recession analysis: quantifying methodological uncertainty

    NASA Astrophysics Data System (ADS)

    Dralle, David N.; Karst, Nathaniel J.; Charalampous, Kyriakos; Veenstra, Andrew; Thompson, Sally E.

    2017-01-01

    The study of single streamflow recession events is receiving increasing attention following the presentation of novel theoretical explanations for the emergence of power law forms of the recession relationship, and drivers of its variability. Individually characterizing streamflow recessions often involves describing the similarities and differences between model parameters fitted to each recession time series. Significant methodological sensitivity has been identified in the fitting and parameterization of models that describe populations of many recessions, but the dependence of estimated model parameters on methodological choices has not been evaluated for event-by-event forms of analysis. Here, we use daily streamflow data from 16 catchments in northern California and southern Oregon to investigate how combinations of commonly used streamflow recession definitions and fitting techniques impact parameter estimates of a widely used power law recession model. Results are relevant to watersheds that are relatively steep, forested, and rain-dominated. The highly seasonal mediterranean climate of northern California and southern Oregon ensures study catchments explore a wide range of recession behaviors and wetness states, ideal for a sensitivity analysis. In such catchments, we show the following: (i) methodological decisions, including ones that have received little attention in the literature, can impact parameter value estimates and model goodness of fit; (ii) the central tendencies of event-scale recession parameter probability distributions are largely robust to methodological choices, in the sense that differing methods rank catchments similarly according to the medians of these distributions; (iii) recession parameter distributions are method-dependent, but roughly catchment-independent, such that changing the choices made about a particular method affects a given parameter in similar ways across most catchments; and (iv) the observed correlative relationship

  5. What mainly controls recession flows in river basins?

    NASA Astrophysics Data System (ADS)

    Biswal, Basudev; Nagesh Kumar, D.

    2014-03-01

    The ubiquity of the power law relationship between dQ/dt and Q for recession periods (-dQ/dt=kQα,Q being discharge at the basin outlet at time t) clearly hints at the existence of a dominant recession flow process that is common to all real basins. It is commonly assumed that a basin, during recession events, functions as a single phreatic aquifer resting on a impermeable horizontal bed or the Dupuit-Boussinesq (DB) aquifer, and with time different aquifer geometric conditions arise that give different values of α and k. The recently proposed alternative model, geomorphological recession flow model, however, suggests that recession flows are controlled primarily by the dynamics of the active drainage network (ADN). In this study we use data for several basins and compare the above two contrasting recession flow models in order to understand which of the above two factors dominates during recession periods in steep basins. Particularly, we do the comparison by selecting three key recession flow properties: (1) power law exponent α, (2) dynamic dQ/dt-Q relationship (characterized by k) and (3) recession timescale (time period for which a recession event lasts). Our observations suggest that neither drainage from phreatic aquifers nor evapotranspiration significantly controls recession flows. Results show that the value of α and recession timescale are not modeled well by DB aquifer model. However, the above mentioned three recession curve properties can be captured satisfactorily by considering the dynamics of the ADN as described by geomorphological recession flow model, possibly indicating that the ADN represents not just phreatic aquifers but the organization of various sub-surface storage systems within the basin.

  6. Health status of the Pakistani population: a health profile and comparison with the United States.

    PubMed Central

    Pappas, G; Akhtar, T; Gergen, P J; Hadden, W C; Khan, A Q

    2001-01-01

    OBJECTIVES: The health status of the Pakistani population was compared with that of the US population to provide a better understanding of the health problems in a developing nation and shed light on the dynamics of selected diseases. METHODS: Results from the National Health Survey of Pakistan (n = 18,315) and the US National Health and Nutrition Examination Survey (n = 31,311) were compared. Standardized and comparable methods were used in both surveys. RESULTS: Indicators of undernutrition among children were high throughout Pakistan. Among adults, there were urban-rural differences and economic gradients in indicators of undernutrition and risk factors for heart disease and cancer. In comparison with the US population, the Pakistani population has a higher rate of undernutrition, a lower rate of high cholesterol, and an approximately equal rate of high blood pressure. CONCLUSIONS: There are major inequalities in health within Pakistan and between Pakistan and the United States. Standardized national health examination survey methodology can be used to monitor health status and plan health transition policy in developing countries. PMID:11189831

  7. Q192R paraoxonase1 polymorphism is a risk factor for cataract in Pakistani population.

    PubMed

    Baig, Amena; Zohaib, Muhammad; Rehman, Ata-ur; Zarina, Shamshad

    2016-05-01

    Cataract, the lens opacity, is among major causes of blindness in Pakistani population. In recent past, oxidative stress is suggested to play crucial role in loss of transparency. Along with other antioxidants, Paraoxonase 1 (PON1) has also shown decreased activity in patients suffering from cataract. The aim of current study was to examine the possible association of PON polymorphism with predisposition of cataract formation in local population. The study was conducted on 51 cataract patients and 50 control subjects considering all ethical issues. DNA was extracted from whole blood and PON1 polymorphism was identified using tetra primer ARMS-PCR method for both positions L55M and Q192R. Tetra primer ARMS-PCR results revealed that association between L55M polymorphism and cataract was insignificant while 192R genotype PON1 frequency was higher among the people suffering from cataract (78.4%) as compared to control subjects (56%), (odds ratio=2.857, confidence interval=1.197-6.820). Hence, R allele is likely to be a risk factor for cataract with allele frequency (82.3%) and (odds ratio=4.552, confidence interval=1.716-12.073, p-value=0.002). PON1 Q192R polymorphism is likely to be a risk factor for cataract development in Pakistani population while PON1 L55M was not found to be associated with cataract.

  8. Molecular phylogeny of Pakistani riverine buffalo based on genetic variability of mitochondrial cytochrome b gene.

    PubMed

    Saif, Rashid; Wasim, Muhammad; Babar, Masroor Ellahi

    2012-10-01

    Mitochondrial cytochrome b gene is considered to be one of the best markers for breed characterization as well as studying the ancestry in the vertebrates due to its exclusive maternal inheritance. DNA fingerprinting by single nucleotide polymorphism is most reliable and widely used molecular technique in modern forensics and is being considered in this study. Partial sequencing of 1,061 bp of aforementioned gene from 14580 to 15643 was conducted in two famous Pakistani buffalo breeds named Nili-Ravi and Kundi. In which we explore seven haplotypes within earlier and none in the latter breed. Nili-Ravi is polymorphic at four codons of this gene, and the protein translation is also different from the reference sample while monomorphic at three codons with no amino acid replacement. Haplotypes frequency distribution of these four haplotypes named NR3, NR4, NR5, NR7 revealed that the prevalence of each haplotype is 0.04 % in the Pakistani buffalo population of this Nili-Ravi breed while complete homoplasmy was observed in the Kundi breed population. Nili-Ravi breed of buffalo is genetically more variable than the Kundi breed as far as the gene in subject is concerned. It means later breed has spent more time to propagate its wild type haplotype which make this breed more ancestral as compare to Nili-Ravi. Secondly both breeds share their common ancestors with regional water buffalo rather than the swamp one.

  9. Dental health behavior in a migrant perspective: use of dental services of Pakistani immigrants in Norway.

    PubMed

    Selikowitz, H S; Holst, D

    1986-12-01

    The purpose of the present study was to assess the utilization pattern of dental services in a group of Pakistani immigrants in Norway. Use was related to sociodemographic characteristics, level of urbanization in Pakistan, knowledge and belief about dental diseases and evaluated and perceived dental health. A total of 160 immigrants were clinically examined and interviewed by a structured questionnaire. The effect change analysis was performed, and separate analyses were performed for men and women. Altogether 60% had visited the dentist during the last 3 yr. While 69% coming from the cities had been to the dentist in Norway, this was the case for only 38% of those from the villages of Pakistan. Pain was given as the main reason for dental visits, and the data indicated insufficient ability to perform self-assessment of own dental health. The independent variables could explain more of the variance in use of dental services among the Pakistani men (R2 = 40%) than among the women (R2 = 21%). While number of decayed teeth and level of urbanization were among the strongest predictors among the men, dental behavior in Pakistan and number of years in Norway were of importance among the women. The latter variable indicated that the women in terms of dental behavior had a higher degree of acculturation than the men, leading to a change in traditional health behavior.

  10. Docking Studies of Pakistani HCV NS3 Helicase: A Possible Antiviral Drug Target

    PubMed Central

    Fatima, Kaneez; Mathew, Shilu; Suhail, Mohd; Ali, Ashraf; Damanhouri, Ghazi; Azhar, Esam; Qadri, Ishtiaq

    2014-01-01

    The nonstructural protein 3 (NS3) of hepatitis C virus (HCV) helicase is believed to be essential for viral replication and has become an attractive target for the development of antiviral drugs. The study of helicase is useful for elucidating its involvement in positive sense single-stranded RNA virus replication and to serve as templates for the design of novel antiviral drugs. In recent years, several models have been proposed on the conformational change leading to protein movement and RNA unwinding. Some compounds have been recently reported to inhibit the helicase and these include small molecules, RNA aptamers and antibodies. The current study is designed to help gain insights for the consideration of potential inhibitors for Pakistani HCV NS3 helicase protein. We have cloned, expressed and purified HCV NS3 helicase from Pakistani HCV serum samples and determined its 3D structure and employed it further in computational docking analysis to identify inhibitors against HCV genotype 3a (GT3a),including six antiviral key molecules such as quercetin, beta-carotene, resveratrol, catechins, lycopene and lutein. The conformation obtained after docking showed good hydrogen bond (HBond) interactions with best docking energy for quercetin and catechins followed by resveratrol and lutein. These anti-helicase key molecules will offer an alternative attraction to target the viral helicase, due to the current limitation with the interferon resistance treatment and presences of high rate of resistance in anti-protease inhibitor classes. PMID:25188400

  11. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.

    PubMed

    Akiyama, Masashi

    2010-10-01

    Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). HI shows the most severe phenotype. CIE and LI are clinically characterized by fine, whitish scales on a background of erythematous skin, and large, thick, dark scales over the entire body without serious background erythroderma, respectively. To date, a total of 56 ABCA12 mutations have been reported in 66 ARCI families including 48 HI, 10 LI, and 8 CIE families of African, European, Pakistani/Indian, and Japanese origin (online database: http://www.derm-hokudai.jp/ABCA12/). A total of 62.5% of reported ABCA12 mutations are expected to lead to truncated proteins. Most mutations in HI are truncation mutations and homozygous or compound heterozygous truncation mutations always results in HI phenotype. In CIE families, at least one mutation on each allele is typically a missense mutation. Combinations of missense mutations in the first ATP-binding cassette of ABCA12 underlie the LI phenotype. ABCA12 is a keratinocyte lipid transporter associated with lipid transport in lamellar granules, and loss of ABCA12 function leads to a defective lipid barrier in the stratum corneum, resulting in an ichthyotic phenotype. Recent work using mouse models confirmed ABCA12 roles in skin barrier formation.

  12. Scholars' Satisfaction with Digital Library Collection and Gaps in the Provision of Effective Information Resources and Services: A Pakistani Perspective

    ERIC Educational Resources Information Center

    Khan, Amjid; Ahmed, Shamshad; Masrek, Mohamad Noorman

    2014-01-01

    The study aims to explore the researchers' satisfaction with digital library resources and services and how they improved the research culture in Pakistani universities. A descriptive survey method was employed to achieve objectives of this study. Using stratified random sampling, for this survey we selected 14 public sector universities of Khyber…

  13. A Transnational Community of Pakistani Muslim Women: Narratives of Rights, Honor, and Wisdom in a Women's Education Project

    ERIC Educational Resources Information Center

    Khurshid, Ayesha

    2012-01-01

    Using ethnographic data, this article explores how Muslim women teachers from low-income Pakistani communities employ the notion of "wisdom" to construct and perform their educated subjectivity in a transnational women's education project. Through Butler's performativity framework, I demonstrate how local and global discourses overlap to…

  14. Factorial Complexity and Validity of the Sahin-Francis Attitude toward Islam Scale among Pakistani University Students

    ERIC Educational Resources Information Center

    Khan, Ziasma Haneef; Watson, P. J.

    2006-01-01

    English-speaking Pakistani university students responded to the Sahin-Francis Attitude toward Islam Scale, along with other religious measures and a social desirability scale. This scale was multidimensional. Correlations with religious measures confirmed its validity and were not explained by a social desirability response set. These data…

  15. "Narrow-Minded and Oppressive" or a "Superior Culture"? Implications of Divergent Representations of Islam for Pakistani-American Youth

    ERIC Educational Resources Information Center

    Ghaffar-Kucher, Ameena

    2015-01-01

    Drawing on ethnographic data, this article examines the complex terrain that working-class Pakistani-American youth must negotiate in their daily lives. Specifically, the article illustrates how particular views of Islam and Americanization manifest in particular sites and within educational discourses, and the resulting dissonance that youth…

  16. Influences of Religion and Culture on Continuing Bonds in a Sample of British Muslims of Pakistani Origin

    ERIC Educational Resources Information Center

    Hussein, Hanan; Oyebode, Jan R.

    2009-01-01

    This study considered the nature of continuing bonds with deceased relatives in a sample of Pakistani Muslims living in the United Kingdom. Ten participants were interviewed following a cultural psychology approach and transcripts were analyzed using grounded theory methodology. Dreaming, talking with others about the deceased, following the…

  17. Provision of Human Capital by Business Schools of Pakistan: A Need for the Sustainability of the Pakistani Banking Sector

    ERIC Educational Resources Information Center

    Nauman, Sarwat; Hussain, Nasreen

    2017-01-01

    Economic growth of Pakistan through the banking sector relies heavily on the human capital dispensed to them by the Pakistani business schools. A conceptual model of the continuous improvement cycle for building human capital is developed through a literature review, with the aim of helping to generate human capital. Six semistructured interviews…

  18. Genetic variants in FGFR2 and TNRC9 genes are associated with breast cancer risk in Pakistani women.

    PubMed

    Mazhar, Ayesha; Jamil, Farrukh; Bashir, Qamar; Ahmad, Munawar Saleem; Masood, Misbah; Tanvir, Imrana; Rashid, Naeem; Waheed, Abdul; Afzal, Muhammad Naveed; Tariq, Muhammad Akram

    2016-10-01

    Single nucleotide polymorphisms (SNPs) lead to genetic differences in breast cancer (BC) susceptibility among women from different ethnicities. The present study aimed at investigating the involvement of SNPs of three genes, including fibroblast growth factor receptor 2 (FGFR2), trinucleotide-repeat-containing 9 (TNRC9) and mitogen-activated protein kinase kinase kinase 1 (MAP3K1), as risk factors for the development of BC. A case‑control study (90‑100 cases; 90‑100 controls) was performed to evaluate five genetic variants of three genes, including FGFR2 (SNPs: rs1219648, rs2981582), TNRC9 (SNPs: rs8051542, rs3803662) and MAP3K1 (SNP: rs889312) as BC risk factors in Pakistani women. Significant associations were observed between BC risk and two SNPs of FGFR2 [rs2981582 (P=0.005), rs1219648 (P=9.08e‑006)] and one SNP of TNRC9 [rs3803662) (P=0.012)] in Pakistani women. On examining the different interactions of these SNPs with various clinicopathological characteristics, all three associated genetic variants, rs2981582 rs1219648 and rs3803662, exhibited a greater predisposition to sporadic, in comparison to familial, BC. Furthermore, there was an increased effect of BC risk between haplotype combinations of the two SNPs of FGFR2 (rs2981582 and rs1219648) in Pakistani women. The results of the present study suggest that variants of FGFR2 and TNRC9 may contribute to the genetic susceptibility of BC in Pakistani women.

  19. Validation of molecular markers for resistance among Pakistani chickpea germplasm to races of Fusarium oxysporum f. sp. ciceris

    Technology Transfer Automated Retrieval System (TEKTRAN)

    DNA markers in chickpea have been identified against different races of Fusarium oxysporum f.sp. ciceris (Foc), but validation of these markers is essential for their effective use in resistant breeding. In view of this, different simple sequence repeats (SSR) markers were analysed in Pakistani ger...

  20. Oculocutaneous albinism and consanguineous marriage among Spanish Gitanos or Calé--a study of 83 cases.

    PubMed

    Gamella, Juan F; Carrasco-Muñoz, Elisa Martín; Núñez Negrillo, Ana María

    2013-09-01

    This paper studies 83 cases of oculocutaneous albinism (OCA) in family networks of Gitanos in southeastern Spain, and analyzes their sustained inbreeding patterns and complex genealogical relationships. It is based in the family and genealogy reconstitution of the Gitano population of 22 contiguous localities using ethnographic and historical demography methods. The study found a prevalence of OCA among Gitanos in the area of about 1: 1,200. Most of the cases belong to three extended kin networks in which consanguineous marriages have been common for generations. In these networks there are other cases of visual and auditive congenital anomalies, and other birth defects such as brachydactily, polydactily, neurological defects, Potter Sequence, etc. In 61 OCA cases it was possible to trace inbreeding links with a depth of three to nine generations. For these cases the estimated alpha (average of the inbreeding coefficient, F) is 0.0222. Relationships between the parents of people affected are of three types: close, as between first or second cousins; distant, as between third or fourth cousins, and non-existent, as in mixed marriages. In most cases, however, persons with albinism are linked by multiple consanguineous links. Albinism seems to be a visible example of a high prevalence of birth defects in this minority, associated with founder effects, sustained inbreeding and high fertility rates. These conditions derive from Gitano's marriage preferences and pronatalist strategies. In turn, these strategies have to be related to the exclusion, persecution and segregation that Spanish Gypsies have suffered for centuries.

  1. CFLs in Recessed Downlights: Technical Challenges

    SciTech Connect

    Ledbetter, Marc R.; McCullough, Jeffrey J.; Dillon, Heather E.; Sandahl, Linda J.; Gordon, Kelly L.

    2005-05-09

    Recessed downlights are the most popular residential lighting fixture in the United States representing about 12 percent of installed residential lighting fixtures and 15 percent of total lighting energy use nationwide. We estimate 400 million recessed downlights are currently installed in American homes, almost all using incandescent light sources. In the year 2000, only 0.44 percent of recessed cans sold were hard-wired for using pin-based CFLs. Recessed downlights consume energy in three ways. First, their incandescent light sources use energy directly, drawing 65 to 150 watts. Second, they consume energy indirectly by adding heat from their light sources to air-conditioning loads. Third, since most are not airtight, they also consume energy indirectly by allowing conditioned air to escape into unconditioned areas above the downlights, such as attics. PNNL calculated potential energy savings and found that if a 65W incandescent non-airtight downlight is replaced with a 26W CFL ICAT downlight operated at 3 hrs per day savings will be 126 kWh/yr. Early reflector CFLs have had high return rates primarily because of failure due to thermal related stress. A PNNL laboratory test of ten commercially available R-CFLs selected from retail store shelves showed almost all operated above their manufacturer rated maximum operating temperatures when they were installed and tested in ICAT downlights in a simulated insulated ceiling apparatus. DOE asked PNNL to investigate the development and introduction of both pin-based and screw-based CFLs for use in ICAT fixtures. PNNL invited manufacturers to submit lamps to a procurement program. PNNL conducted short- and long-term thermal testing of the lamps to measure performance parameters affected by elevated temperatures. 8 out of 10 R-CFLs (secrew-based lamps) failed the long-tem testing. Five out of nine CFL-ICAT (pin-based CFL) fixtures passed the long-term test, surviving a full year of operation in a simulated insulated

  2. CONSANGUINITY AND INBREEDING COEFFICIENT IN TRIBAL PASHTUNS INHABITING THE TURBULENT AND WAR-AFFECTED TERRITORY OF BAJAUR AGENCY, NORTH-WEST PAKISTAN.

    PubMed

    Ahmad, Bashir; Rehman, Atta Ur; Malik, Sajid

    2016-01-01

    The north-western populations of Pakistan in the Federally Administered Tribal Areas (FATA) adjoining the Pakistan-Afghanistan border are an amalgamation of native and migrated Pashtun tribes. These tribal populations are in transition due to war conditions and geo-political turmoil on both sides of the border since the Soviet invasion in 1979. Bio-demographic and epidemiological data for these tribes are scarce. A prospective cross-sectional sample of 967 males was selected from a representative Pashtun population of Bajaur Agency, and information obtained on bio-demographic variables and marital union types. Analysis of these data revealed that consanguinity was 22.34% and the inbreeding coefficient F was calculated to be 0.0134. The inbreeding coefficient was observed to be higher in subjects who were illiterate, had unskilled jobs and who belonged to younger age categories, extended families and the Tarkalani tribe. Further analyses with respect to temporal variables like subject's age, year of marriage and age at marriage revealed that after a transition in marital union types in the early 80s, there has been a declining trend in the rate of consanguineous unions. Further, consanguineous unions in the parental generation were only 5%, but parental marriage types were predictors of subjects' marital union types. The data further establish that, contrary to a general notion about a high consanguinity rate in Pakistan, consanguineous unions are not common in Bajaur Agency and first cousin marriage is not the preferred type. Furthermore, this research shows that there is a great regional variation in the pattern of consanguinity in Pakistan that needs to be documented in order to draw a more comprehensive picture of the inbreeding coefficient in the country.

  3. Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

    PubMed Central

    Irum, Bushra; Khan, Shahid Y.; Ali, Muhammad; Kaul, Haiba; Kabir, Firoz; Rauf, Bushra; Fatima, Fareeha; Nadeem, Raheela; Khan, Arif O.; Al Obaisi, Saif; Naeem, Muhammad Asif; Nasir, Idrees A.; Khan, Shaheen N.; Husnain, Tayyab; Riazuddin, Sheikh; Akram, Javed; Eghrari, Allen O.; Riazuddin, S. Amer

    2016-01-01

    Purpose To identify the molecular basis of non-syndromic autosomal recessive congenital cataracts (arCC) in a consanguineous family. Methods All family members participating in the study received a comprehensive ophthalmic examination to determine their ocular phenotype and contributed a blood sample, from which genomic DNA was extracted. Available medical records and interviews with the family were used to compile the medical history of the family. The symptomatic history of the individuals exhibiting cataracts was confirmed by slit-lamp biomicroscopy. A genome-wide linkage analysis was performed to localize the disease interval. The candidate gene, LIM2 (lens intrinsic membrane protein 2), was sequenced bi-directionally to identify the disease-causing mutation. The physical changes caused by the mutation were analyzed in silico through homology modeling, mutation and bioinformatic algorithms, and evolutionary conservation databases. The physiological importance of LIM2 to ocular development was assessed in vivo by real-time expression analysis of Lim2 in a mouse model. Results Ophthalmic examination confirmed the diagnosis of nuclear cataracts in the affected members of the family; the inheritance pattern and cataract development in early infancy indicated arCC. Genome-wide linkage analysis localized the critical interval to chromosome 19q with a two-point logarithm of odds (LOD) score of 3.25. Bidirectional sequencing identified a novel missense mutation, c.233G>A (p.G78D) in LIM2. This mutation segregated with the disease phenotype and was absent in 192 ethnically matched control chromosomes. In silico analysis predicted lower hydropathicity and hydrophobicity but higher polarity of the mutant LIM2-encoded protein (MP19) compared to the wild-type. Moreover, these analyses predicted that the mutation would disrupt the secondary structure of a transmembrane domain of MP19. The expression of Lim2, which was detected in the mouse lens as early as embryonic day 15

  4. Prediction of the start of next recession using latent factors

    NASA Astrophysics Data System (ADS)

    Pooi, Ah-Hin; Soo, Huei-Ching; Pan, Wei-Yeing

    2016-10-01

    The data on the binary recession variable and the latent factors extracted from a large set of economic variables are fitted with a multivariate power-normal distribution. A conditional distribution for the recession variable is obtained from the fitted multivariate distribution. The results based on the US economic data show that the 2.5% point of the conditional distribution provides a good indicator for the start of the next recession.

  5. A visual basic spreadsheet macro for recession curve analysis.

    PubMed

    Posavec, Kristijan; Bacani, Andrea; Nakić, Zoran

    2006-01-01

    A Visual Basic program for an Excel spreadsheet was written to construct a master recession curve (MRC), using the adapted matching strip method, for recession analysis of ground water level time series. The program uses five different linear/nonlinear regression models to adjust individual recession segments to their proper positions in the MRC. The program can also be used to analyze the recession segments of other time series, such as daily stream discharge or stage. Some examples of field data from Croatia are used to illustrate the usefulness of its application.

  6. ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

    PubMed Central

    Lagier-Tourenne, Clotilde; Tazir, Meriem; López, Luis Carlos; Quinzii, Catarina M.; Assoum, Mirna; Drouot, Nathalie; Busso, Cleverson; Makri, Samira; Ali-Pacha, Lamia; Benhassine, Traki; Anheim, Mathieu; Lynch, David R.; Thibault, Christelle; Plewniak, Frédéric; Bianchetti, Laurent; Tranchant, Christine; Poch, Olivier; DiMauro, Salvatore; Mandel, Jean-Louis; Barros, Mario H.; Hirano, Michio; Koenig, Michel

    2008-01-01

    Muscle coenzyme Q10 (CoQ10 or ubiquinone) deficiency has been identified in more than 20 patients with presumed autosomal-recessive ataxia. However, mutations in genes required for CoQ10 biosynthetic pathway have been identified only in patients with infantile-onset multisystemic diseases or isolated nephropathy. Our SNP-based genome-wide scan in a large consanguineous family revealed a locus for autosomal-recessive ataxia at chromosome 1q41. The causative mutation is a homozygous splice-site mutation in the aarF-domain-containing kinase 3 gene (ADCK3). Five additional mutations in ADCK3 were found in three patients with sporadic ataxia, including one known to have CoQ10 deficiency in muscle. All of the patients have childhood-onset cerebellar ataxia with slow progression, and three of six have mildly elevated lactate levels. ADCK3 is a mitochondrial protein homologous to the yeast COQ8 and the bacterial UbiB proteins, which are required for CoQ biosynthesis. Three out of four patients tested showed a low endogenous pool of CoQ10 in their fibroblasts or lymphoblasts, and two out of three patients showed impaired ubiquinone synthesis, strongly suggesting that ADCK3 is also involved in CoQ10 biosynthesis. The deleterious nature of the three identified missense changes was confirmed by the introduction of them at the corresponding positions of the yeast COQ8 gene. Finally, a phylogenetic analysis shows that ADCK3 belongs to the family of atypical kinases, which includes phosphoinositide and choline kinases, suggesting that ADCK3 plays an indirect regulatory role in ubiquinone biosynthesis possibly as part of a feedback loop that regulates ATP production. PMID:18319074

  7. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.

    PubMed

    Attali, Ruben; Warwar, Nasim; Israel, Ariel; Gurt, Irina; McNally, Elizabeth; Puckelwartz, Megan; Glick, Benjamin; Nevo, Yoram; Ben-Neriah, Ziva; Melki, Judith

    2009-09-15

    Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital joint contractures caused by reduced fetal movements. AMC has an incidence of 1 in 3000 newborns and is genetically heterogeneous. We describe an autosomal recessive form of myogenic AMC in a large consanguineous family. The disease is characterized by bilateral clubfoot, decreased fetal movements, delay in motor milestones, then progressive motor decline after the first decade. Genome-wide linkage analysis revealed a single locus on chromosome 6q25 with Z(max) = 3.55 at theta = 0.0 and homozygosity of the polymorphic markers at this locus in patients. Homozygous A to G nucleotide substitution of the conserved AG splice acceptor site at the junction of intron 136 and exon 137 of the SYNE-1 gene was found in patients. This mutation results in an aberrant retention of intron 136 of SYNE-1 RNA leading to premature stop codons and the lack of the C-terminal transmembrane domain KASH of nesprin-1, the SYNE-1 gene product. Mice lacking the KASH domain of nesprin-1 display a myopathic phenotype similar to that observed in patients. Altogether, these data strongly suggest that the splice site mutation of SYNE-1 gene found in the family is responsible for AMC. Recent reports have shown that mutations of the SYNE-1 gene might be responsible for autosomal recessive adult onset cerebellar ataxia. These data indicate that mutations of nesprin-1 which interacts with lamin A/C may lead to at least two distinct human disease phenotypes, myopathic or neurological, a feature similar to that found in laminopathies.

  8. Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

    PubMed Central

    Magen, Daniella; Georgopoulos, Costa; Bross, Peter; Ang, Debbie; Segev, Yardena; Goldsher, Dorit; Nemirovski, Alexandra; Shahar, Eli; Ravid, Sarit; Luder, Anthony; Heno, Bayan; Gershoni-Baruch, Ruth; Skorecki, Karl; Mandel, Hanna

    2008-01-01

    Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation. The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher disease (PMD) caused by mutations in PLP1. Recently, homozygous mutations in GJA12 encoding connexin 47 were found in patients with autosomal-recessive Pelizaeus-Merzbacher-like disease (PMLD). However, many patients of both genders with PMLD carry neither PLP1 nor GJA12 mutations. We report a consanguineous Israeli Bedouin kindred with clinical and radiological findings compatible with PMLD, in which linkage to PLP1 and GJA12 was excluded. Using homozygosity mapping and mutation analysis, we have identified a homozygous missense mutation (D29G) not previously described in HSPD1, encoding the mitochondrial heat-shock protein 60 (Hsp60) in all affected individuals. The D29G mutation completely segregates with the disease-associated phenotype. The pathogenic effect of D29G on Hsp60-chaperonin activity was verified by an in vivo E. coli complementation assay, which demonstrated compromised ability of the D29G-Hsp60 mutant protein to support E. coli survival, especially at high temperatures. The disorder, which we have termed MitCHAP-60 disease, can be distinguished from spastic paraplegia 13 (SPG13), another Hsp60-associated autosomal-dominant neurodegenerative disorder, by its autosomal-recessive inheritance pattern, as well as by its early-onset, profound cerebral involvement and lethality. Our findings suggest that Hsp60 defects can cause neurodegenerative pathologies of varying severity, not previously suspected on the basis of the SPG13 phenotype. These findings should help to clarify the important role of Hsp60 in myelinogenesis and neurodegeneration. PMID:18571143

  9. Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

    PubMed

    Heidari, Abolfazl; Tongsook, Chanakan; Najafipour, Reza; Musante, Luciana; Vasli, Nasim; Garshasbi, Masoud; Hu, Hao; Mittal, Kirti; McNaughton, Amy J M; Sritharan, Kumudesh; Hudson, Melissa; Stehr, Henning; Talebi, Saeid; Moradi, Mohammad; Darvish, Hossein; Arshad Rafiq, Muhammad; Mozhdehipanah, Hossein; Rashidinejad, Ali; Samiei, Shahram; Ghadami, Mohsen; Windpassinger, Christian; Gillessen-Kaesbach, Gabriele; Tzschach, Andreas; Ahmed, Iltaf; Mikhailov, Anna; Stavropoulos, D James; Carter, Melissa T; Keshavarz, Soraya; Ayub, Muhammad; Najmabadi, Hossein; Liu, Xudong; Ropers, Hans Hilger; Macheroux, Peter; Vincent, John B

    2015-10-15

    Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid secretion and neuromodulation. The enzyme histamine N-methyltransferase (HNMT) inactivates HA by transferring a methyl group from S-adenosyl-l-methionine to HA, and is the only well-known pathway for termination of neurotransmission actions of HA in mammalian central nervous system. We performed autozygosity mapping followed by targeted exome sequencing and identified two homozygous HNMT alterations, p.Gly60Asp and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability from two unrelated consanguineous families of Turkish and Kurdish ancestry, respectively. We verified the complete absence of a functional HNMT in patients using in vitro toxicology assay. Using mutant and wild-type DNA constructs as well as in silico protein modeling, we confirmed that p.Gly60Asp disrupts the enzymatic activity of the protein, and that p.Leu208Pro results in reduced protein stability, resulting in decreased HA inactivation. Our results highlight the importance of inclusion of HNMT for genetic testing of individuals presenting with intellectual disability.

  10. Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta

    PubMed Central

    Martínez-Glez, Víctor; Valencia, Maria; Caparrós-Martín, José A.; Aglan, Mona; Temtamy, Samia; Tenorio, Jair; Pulido, Veronica; Lindert, Uschi; Rohrbach, Marianne; Eyre, David; Giunta, Cecilia; Lapunzina, Pablo; Ruiz-Perez, Victor L.

    2013-01-01

    Herein, we have studied a consanguineous Egyptian family with two children diagnosed with severe autosomal recessive osteogenesis imperfecta (AR-OI) and a large umbilical hernia. Homozygosity mapping in this family showed lack of linkage to any of the previously known AR-OI genes, but revealed a 10.27 MB homozygous region on chromosome 8p in the two affected sibs, which comprised the procollagen I C-terminal propeptide (PICP) endopeptidase gene BMP1. Mutation analysis identified both patients with a Phe249Leu homozygous missense change within the BMP1 protease domain involving a residue, which is conserved in all members of the astacin group of metalloproteases. Type I procollagen analysis in supernatants from cultured fibroblasts demonstrated abnormal PICP processing in patient-derived cells consistent with the mutation causing decreased BMP1 function. This was further confirmed by overexpressing wild type and mutant BMP1 longer isoform (mammalian Tolloid protein [mTLD]) in NIH3T3 fibroblasts and human primary fibroblasts. While overproduction of normal mTLD resulted in a large proportion of proα1(I) in the culture media being C-terminally processed, proα1(I) cleavage was not enhanced by an excess of the mutant protein, proving that the Phe249Leu mutation leads to a BMP1/mTLD protein with deficient PICP proteolytic activity. We conclude that BMP1 is an additional gene mutated in AR-OI. PMID:22052668

  11. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

    PubMed

    Kalay, Ersan; Li, Yun; Uzumcu, Abdullah; Uyguner, Oya; Collin, Rob W; Caylan, Refik; Ulubil-Emiroglu, Melike; Kersten, Ferry F J; Hafiz, Gunter; van Wijk, Erwin; Kayserili, Hulya; Rohmann, Edyta; Wagenstaller, Janine; Hoefsloot, Lies H; Strom, Tim M; Nürnberg, Gudrun; Baserer, Nermin; den Hollander, Anneke I; Cremers, Frans P M; Cremers, Cor W R J; Becker, Christian; Brunner, Han G; Nürnberg, Peter; Karaguzel, Ahmet; Basaran, Seher; Kubisch, Christian; Kremer, Hannie; Wollnik, Bernd

    2006-07-01

    In two large Turkish consanguineous families, a locus for autosomal recessive nonsyndromic hearing loss (ARNSHL) was mapped to chromosome 6p21.3 by genome-wide linkage analysis in an interval overlapping with the loci DFNB53 (COL11A2), DFNB66, and DFNB67. Fine mapping excluded DFNB53 and subsequently homozygous mutations were identified in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene, also named tetraspan membrane protein of hair cell stereocilia (TMHS) gene, which was recently shown to be mutated in the "hurry scurry" mouse and in two DFNB67-linked families from Pakistan. In one family, we found a homozygous one-base pair deletion, c.649delG (p.Glu216ArgfsX26) and in the other family we identified a homozygous transition c.494C>T (p.Thr165Met). Further screening of index patients from 96 Turkish ARNSHL families and 90 Dutch ARNSHL patients identified one additional Turkish family carrying the c.649delG mutation. Haplotype analysis revealed that the c.649delG mutation was located on a common haplotype in both families. Mutation screening of the LHFPL5 homologs LHFPL3 and LHFPL4 did not reveal any disease causing mutation. Our findings indicate that LHFPL5 is essential for normal function of the human cochlea.

  12. Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

    PubMed Central

    Xia, Hong; Huang, Xiangjun; Guo, Yi; Hu, Pengzhi; He, Guangxiang; Deng, Xiong; Xu, Hongbo; Yang, Zhijian; Deng, Hao

    2015-01-01

    Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestations. The aim of this study is to identify the pathogenic gene in a four-generation consanguineous Chinese family with ARNSHL. A novel homozygous variant, c.9316dupC (p.H3106Pfs*2), in the myoxin XVa gene (MYO15A) was identified by exome sequencing and Sanger sequencing. The homozygous MYO15A c.9316dupC variant co-segregated with the phenotypes in the ARNSHL family and was absent in two hundred normal controls. The variant was predicted to interfere with the formation of the Myosin XVa-whirlin-Eps8 complex at the tip of stereocilia, which is indispensable for stereocilia elongation. Our data suggest that the homozygous MYO15A c.9316dupC variant might be the pathogenic mutation, and exome sequencing is a powerful molecular diagnostic strategy for ARNSHL, an extremely heterogeneous disorder. Our findings extend the mutation spectrum of the MYO15A gene and have important implications for genetic counseling for the family. PMID:26308726

  13. Ethnomedicinal and phytochemical review of Pakistani medicinal plants used as antibacterial agents against Escherichia coli

    PubMed Central

    2014-01-01

    Medicinal plants have always been part of human culture and have the potential to cure different diseases caused by microorganisms. In Pakistan, biologists are mainly focusing on plants’ antimicrobial activities against Escherichia coli due to its increasing resistance to antibiotics. In total, extracts from 34 ethnomedicinally valuable Pakistani plants were reported for in-vitro anti-E. coli activities. Mostly methanolic extracts of medicinal plants were used in different studies, which have shown comparatively higher inhibitory activities against E. coli than n-hexane and aqueous extracts. It has been found that increasing concentration (mg/ml) of methanolic extract can significantly increase (p < 0.01) anti-E. coli activities. Not all medicinal plants are extracted in solvents others than above, which should also be tested against E. coli. Moreover, medicinal plant species must be fully explored phytochemically, which may lead to the development of new drugs. PMID:25135359

  14. Cultural adaptation of preschool PATHS (Promoting Alternative Thinking Strategies) curriculum for Pakistani children.

    PubMed

    Inam, Ayesha; Tariq, Pervaiz N; Zaman, Sahira

    2015-06-01

    Cultural adaptation of evidence-based programmes has gained importance primarily owing to its perceived impact on the established effectiveness of a programme. To date, many researchers have proposed different frameworks for systematic adaptation process. This article presents the cultural adaptation of preschool Promoting Alternative Thinking Strategies (PATHS) curriculum for Pakistani children using the heuristic framework of adaptation (Barrera & Castro, 2006). The study was completed in four steps: information gathering, preliminary adaptation design, preliminary adaptation test and adaptation refinement. Feedbacks on programme content suggested universality of the core programme components. Suggested changes were mostly surface structure: language, presentation of materials, conceptual equivalence of concepts, training needs of implementation staff and frequency of programme delivery. In-depth analysis was done to acquire cultural equivalence. Pilot testing of the outcome measures showed strong internal consistency. The results were further discussed with reference to similar work undertaken in other cultures.

  15. A Rare Haemoglobin Variant Identified as K Woolwich in a Pakistani Male.

    PubMed

    Ali, Sidra Asad; Ali, Natasha

    2015-10-01

    Haemoglobin (Hb) K Woolwich is a rare Hb variant which was first described in a family from West Indies and its occurrence was later reported mainly in Black families from many African countries. We report a case of a young male who came for evaluation of anemia. His complete blood count showed hypochromic, microcytic anemia and his serum ferritin was low. Hb electrophoresis done as part of initial workup showed an abnormal band which moved faster than HbA. For further evaluation, Hb analysis by high performance liquid chromatography was subsequently performed and revealed Hb K Woolwich. This is a rare Hb variant recognized in Pakistani population for the first time through careful interpretation of the chromatographic behavior of the Hb.

  16. Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

    PubMed Central

    Bork, Julie M.; Peters, Linda M.; Riazuddin, Saima; Bernstein, Steve L.; Ahmed, Zubair M.; Ness, Seth L.; Polomeno, Robert; Ramesh, Arabandi; Schloss, Melvin; Srisailpathy, C. R. Srikumari; Wayne, Sigrid; Bellman, Susan; Desmukh, Dilip; Ahmed, Zahoor; Khan, Shaheen N.; Kaloustian, Vazken M. Der; Li, X. Cindy; Lalwani, Anil; Riazuddin, Sheikh; Bitner-Glindzicz, Maria; Nance, Walter E.; Liu, Xue-Zhong; Wistow, Graeme; Smith, Richard J. H.; Griffith, Andrew J.; Wilcox, Edward R.; Friedman, Thomas B.; Morell, Robert J.

    2001-01-01

    Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously mapped to overlapping regions of chromosome 10q21-q22. Seven highly consanguineous families segregating nonsyndromic autosomal recessive deafness were analyzed to refine the DFNB12 locus. In a single family, a critical region was defined between D10S1694 and D10S1737, ∼0.55 cM apart. Eighteen candidate genes in the region were sequenced. Mutations in a novel cadherin-like gene, CDH23, were found both in families with DFNB12 and in families with USH1D. Six missense mutations were found in five families with DFNB12, and two nonsense and two frameshift mutations were found in four families with USH1D. A northern blot analysis of CDH23 showed a 9.5-kb transcript expressed primarily in the retina. CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA. PMID:11090341

  17. Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

    PubMed Central

    Thevenon, Julien; Milh, Mathieu; Feillet, François; St-Onge, Judith; Duffourd, Yannis; Jugé, Clara; Roubertie, Agathe; Héron, Delphine; Mignot, Cyril; Raffo, Emmanuel; Isidor, Bertrand; Wahlen, Sandra; Sanlaville, Damien; Villeneuve, Nathalie; Darmency-Stamboul, Véronique; Toutain, Annick; Lefebvre, Mathilde; Chouchane, Mondher; Huet, Frédéric; Lafon, Arnaud; de Saint Martin, Anne; Lesca, Gaetan; El Chehadeh, Salima; Thauvin-Robinet, Christel; Masurel-Paulet, Alice; Odent, Sylvie; Villard, Laurent; Philippe, Christophe; Faivre, Laurence; Rivière, Jean-Baptiste

    2014-01-01

    Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by seizures, abnormal interictal electro-encephalogram, psychomotor delay, and/or cognitive deterioration. We ascertained two multiplex families (including one consanguineous family) consistent with an autosomal-recessive inheritance pattern of EE. All seven affected individuals developed subclinical seizures as early as the first day of life, severe epileptic disease, and profound developmental delay with no facial dysmorphism. Given the similarity in clinical presentation in the two families, we hypothesized that the observed phenotype was due to mutations in the same gene, and we performed exome sequencing in three affected individuals. Analysis of rare variants in genes consistent with an autosomal-recessive mode of inheritance led to identification of mutations in SLC13A5, which encodes the cytoplasmic sodium-dependent citrate carrier, notably expressed in neurons. Disease association was confirmed by cosegregation analysis in additional family members. Screening of 68 additional unrelated individuals with early-onset epileptic encephalopathy for SLC13A5 mutations led to identification of one additional subject with compound heterozygous mutations of SLC13A5 and a similar clinical presentation as the index subjects. Mutations affected key residues for sodium binding, which is critical for citrate transport. These findings underline the value of careful clinical characterization for genetic investigations in highly heterogeneous conditions such as EE and further highlight the role of citrate metabolism in epilepsy. PMID:24995870

  18. Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

    PubMed

    Thevenon, Julien; Milh, Mathieu; Feillet, François; St-Onge, Judith; Duffourd, Yannis; Jugé, Clara; Roubertie, Agathe; Héron, Delphine; Mignot, Cyril; Raffo, Emmanuel; Isidor, Bertrand; Wahlen, Sandra; Sanlaville, Damien; Villeneuve, Nathalie; Darmency-Stamboul, Véronique; Toutain, Annick; Lefebvre, Mathilde; Chouchane, Mondher; Huet, Frédéric; Lafon, Arnaud; de Saint Martin, Anne; Lesca, Gaetan; El Chehadeh, Salima; Thauvin-Robinet, Christel; Masurel-Paulet, Alice; Odent, Sylvie; Villard, Laurent; Philippe, Christophe; Faivre, Laurence; Rivière, Jean-Baptiste

    2014-07-03

    Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by seizures, abnormal interictal electro-encephalogram, psychomotor delay, and/or cognitive deterioration. We ascertained two multiplex families (including one consanguineous family) consistent with an autosomal-recessive inheritance pattern of EE. All seven affected individuals developed subclinical seizures as early as the first day of life, severe epileptic disease, and profound developmental delay with no facial dysmorphism. Given the similarity in clinical presentation in the two families, we hypothesized that the observed phenotype was due to mutations in the same gene, and we performed exome sequencing in three affected individuals. Analysis of rare variants in genes consistent with an autosomal-recessive mode of inheritance led to identification of mutations in SLC13A5, which encodes the cytoplasmic sodium-dependent citrate carrier, notably expressed in neurons. Disease association was confirmed by cosegregation analysis in additional family members. Screening of 68 additional unrelated individuals with early-onset epileptic encephalopathy for SLC13A5 mutations led to identification of one additional subject with compound heterozygous mutations of SLC13A5 and a similar clinical presentation as the index subjects. Mutations affected key residues for sodium binding, which is critical for citrate transport. These findings underline the value of careful clinical characterization for genetic investigations in highly heterogeneous conditions such as EE and further highlight the role of citrate metabolism in epilepsy.

  19. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.

    PubMed

    Çalışkan, Minal; Chong, Jessica X; Uricchio, Lawrence; Anderson, Rebecca; Chen, Peixian; Sougnez, Carrie; Garimella, Kiran; Gabriel, Stacey B; dePristo, Mark A; Shakir, Khalid; Matern, Dietrich; Das, Soma; Waggoner, Darrel; Nicolae, Dan L; Ober, Carole

    2011-04-01

    Exome sequencing is a powerful tool for discovery of the Mendelian disease genes. Previously, we reported a novel locus for autosomal recessive non-syndromic mental retardation (NSMR) in a consanguineous family [Nolan, D.K., Chen, P., Das, S., Ober, C. and Waggoner, D. (2008) Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13. Am. J. Med. Genet. A, 146A, 1414-1422]. Using linkage and homozygosity mapping, we previously localized the gene to chromosome 19p13. The parents of this sibship were recently included in an exome sequencing project. Using a series of filters, we narrowed the putative causal mutation to a single variant site that segregated with NSMR: the mutation was homozygous in five affected siblings but in none of eight unaffected siblings. This mutation causes a substitution of a leucine for a highly conserved proline at amino acid 182 in TECR (trans-2,3-enoyl-CoA reductase), a synaptic glycoprotein. Our results reveal the value of massively parallel sequencing for identification of novel disease genes that could not be found using traditional approaches and identifies only the seventh causal mutation for autosomal recessive NSMR.

  20. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.

    PubMed

    Zhou, Yu; Saikia, Bibhuti B; Jiang, Zhilin; Zhu, Xiong; Liu, Yuqing; Huang, Lulin; Kim, Ramasamy; Yang, Yin; Qu, Chao; Hao, Fang; Gong, Bo; Tai, Zhengfu; Niu, Lihong; Yang, Zhenglin; Sundaresan, Periasamy; Zhu, Xianjun

    2015-10-01

    Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 50 genes. To identify genetic mutations underlying autosomal recessive RP (arRP), we performed whole-exome sequencing study on two consanguineous marriage Indian families (RP-252 and RP-182) and 100 sporadic RP patients. Here we reported novel mutation in FAM161A in RP-252 and RP-182 with two patients affected with RP in each family. The FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP. By whole-exome sequencing we identified several homozygous genomic regions, one of which included the recently identified FAM161A gene mutated in RP28-linked arRP. Sequencing analysis revealed the presence of a novel homozygous frameshift mutation p.R592FsX2 in both patients of family RP-252 and family RP-182. In 100 sporadic Indian RP patients, this novel homozygous frameshift mutation p.R592FsX2 was identified in one sporadic patient ARRP-S-I-46 by whole-exome sequencing and validated by Sanger sequencing. Meanwhile, this homozygous frameshift mutation was absent in 1000 ethnicity-matched control samples screened by direct Sanger sequencing. In conclusion, we identified a novel homozygous frameshift mutations of RP28-linked RP gene FAM161A in Indian population.

  1. Characterization of High-Value Bioactives in Some Selected Varieties of Pakistani Rice (Oryza sativa L.)

    PubMed Central

    Zubair, Muhammad; Anwar, Farooq; Ashraf, Muhammad; Uddin, Md. Kamal

    2012-01-01

    The present study reports the composition and variation of fatty acids, sterols, tocopherols and γ-oryzanol among selected varieties namely Basmati Super, Basmati 515, Basmati 198, Basmati 385, Basmati 2000, Basmati 370, Basmati Pak, KSK-139, KS-282 and Irri-6 of Pakistani rice (Oryza sativa L). Oil content extracted with n-hexane from different varieties of brown rice seed (unpolished rice) ranged from 1.92% to 2.72%. Total fatty acid contents among rice varieties tested varied between 18240 and 25840 mg/kg brown rice seed. The rice tested mainly contained oleic (6841–10952 mg/kg) linoleic (5453–7874 mg/kg) and palmitic acid (3613–5489 mg/kg). The amounts of total phytosterols (GC and GC-MS analysis), with main contribution from β-sitosterol (445–656 mg/kg), campesterol (116–242 mg/kg), Δ5-avenasterol (89–178 mg/kg) and stigmasterol (75–180 mg/kg) were established to be 739.4 to 1330.4 mg/kg rice seed. The content of α-, γ- and δ-tocopherols as analyzed by HPLC varied from 39.0–76.1, 21.6–28.1 and 6.5–16.5 mg/kg rice seed, respectively. The amounts of different γ-oryzanol components (HPLC data), identified as cycloartenyl ferulate, 24-methylene cycloartanyl ferulate, campesteryl ferulate and β-sitosteryl ferulate, were in the range of 65.5–103.6, 140.2–183.1, 29.8–45.5 and 8.6–10.4 mg/kg rice seed, respectively. Overall, the concentration of these bioactives was higher in the Basmati rice cultivars showing their functional food superiority. In conclusion, the tested varieties of Pakistani rice, especially the Basmati cultivars, can provide best ingredients for functional foods. PMID:22605998

  2. Public stigma associated with mental illnesses in Pakistani university students: a cross sectional survey

    PubMed Central

    Zubair, Muhammad; Ghulam, Hamzah; Wajih Ullah, Muhammad; Zubair Tariq, Muhammad

    2014-01-01

    Background. The objectives of the study were to explore the knowledge and attitudes of Pakistani university students toward mental illnesses. People with mental illnesses are challenged not only by their symptoms but also by the prejudices associated with their illness. Acknowledging the stigma of mental illness should be the first essential step toward devising an appropriate treatment plan. Methods. A cross-sectional survey was conducted at the University of Punjab, Lahore, CMH Lahore Medical and Dental College, Lahore, and University of Sargodha, Sub-campus Lahore, from February to May 2014. The self-administered questionnaire consisted of three sections: demographics, general knowledge of psychiatric illnesses, and Community Attitudes towards Mental Illnesses (CAMI) Scale. The questionnaire was distributed to 650 participants enrolled in different disciplines (Social Sciences, Medicine and Formal Sciences). Results. Response rate was 81% (527/650 respondents). Mean age was 20.98 years. Most of the students (331, 62.8%) had an urban background and studied Social Sciences (238, 45.2%). Four hundred and eighteen respondents (79.3%) considered religion very important and most respondents considered psychiatrists (334, 63.4%) and spiritual leaders (72, 13.7%) to be best able to treat mental illnesses. One hundred and sixty nine respondents (32.1%) considered black magic to be a cause of mental illness. Only 215 (41%) respondents had ever read an article on mental illnesses. Multiple regression analysis revealed study discipline, exposure, perceived causes of mental illnesses and superstitions to be significantly associated with attitudes towards mental illnesses (p < .05). Conclusion. Although low awareness and exposure were found in this sample of Pakistani university students, their attitude towards mental illnesses was generally positive. Most respondents gave supernatural explanations for mental illnesses but only a few believed that spiritual leaders can play a

  3. To Assess Sleep Quality among Pakistani Junior Physicians (House Officers): A Cross-sectional Study

    PubMed Central

    Surani, AA; Surani, A; Zahid, S; Ali, S; Farhan, R; Surani, S

    2015-01-01

    Background: Sleep deprivation among junior physicians (house officers) is of growing concern. In developed countries, duty hours are now mandated, but in developing countries, junior physicians are highly susceptible to develop sleep impairment due to long working hours, on-call duties and shift work schedule. Aim: We undertook the study to assess sleep quality among Pakistani junior physicians. Subjects and Methods: A cross-sectional study was conducted at private and public hospitals in Karachi, Pakistan, from June 2012 to January 2013. The study population comprised of junior doctors (house physicians and house surgeons). A consecutive sample of 350 physicians was drawn from the above-mentioned study setting. The subject underwent two validated self-administered questionnaires, that is, Pittsburgh Sleep Quality Index (PSQI) and Epworth Sleepiness Scale (ESS). Results: A total of 334 physicians completely filled out the questionnaire with a response rate of 95.4% (334/350). Of 334 physicians, 36.8% (123/334) were classified as “poor sleepers” (global PSQI score > 5). Poor sleep quality was associated with female gender (P = 0.01), excessive daytime sleepiness (P < 0.01), lower total sleep time (P < 0.001), increased sleep onset latency (P < 0.001), and increased frequency of sleep disturbances (P < 0.001). Abnormal ESS scores (ESS > 10) were more prevalent among poor sleepers (P < 0.01) signifying increased level of daytime hypersomnolence. Conclusion: Sleep quality among Pakistani junior physicians is significantly poor. Efforts must be directed towards proper sleep hygiene education. Regulations regarding duty hour limitations need to be considered. PMID:26500789

  4. Stroke radiology and distinguishing characteristics of intracranial atherosclerotic disease in native South Asian Pakistanis

    PubMed Central

    Khan, Maria; Rasheed, Asif; Hashmi, Saman; Zaidi, Moazzam; Murtaza, Muhammad; Akhtar, Saba; Bansari, Lajpat; Shah, Nabi; Samuel, Maria; Raza, Sadaf; Khan, Umer Rais; Ahmed, Bilal; Ahmed, Bilawal; Ahmed, Naveeduddin; Ara, Jamal; Ahsan, Tasnim; Munir, S. M.; Ali, Shoukat; Mehmood, Khalid; Maki, Karim Ullah; Ahmed, Muhammad Masroor; Sheikh, Niaz; Memon, Abdul Rauf; Frossard, Philippe M.; Kamal, Ayeesha Kamran

    2012-01-01

    Background There are no descriptions of stroke mechanisms from intracranial atherosclerotic disease (ICAD) in native South Asian Pakistanis. Methods Men and women aged >/= 18 years with acute stroke presenting to four tertiary care hospitals in Karachi, Pakistan were screened using Magnetic Resonance Angiography/Transcranial Doppler scans. TOAST criteria were applied to identify strokes from ICAD. Results 245 patients with acute stroke due to ICAD were studied. 230 scans were reviewed. 206 /230(89.0%) showed acute ischemia. The most frequent presentation was with cortically based strokes in 42.2% (87/206) followed by border zone infarcts (52/206, 25.2%).Increasing degrees of stenosis correlated with the development of both cortical and border zone strokes (p=.002). Important associated findings were frequent atrophy (166/230, 72.2%) silent brain infarcts (66/230, 28%) and a marked lack of severe leukoaraiosis identified in only 68 /230 (29.6 %). A total of 1870 arteries were studied individually. MCA was the symptomatic stroke vessel in half, presenting with complete occlusion in 66%. Evidence of biological disease, symptomatic or asymptomatic was identified in 753 (40.2%) vessels of which 543 (72%) were significantly (>50%) stenosed at presentation. Conclusion ICAD is a diffuse process in Pakistani South Asians, with involvement of multiple vessels in addition to the symptomatic vessel. The MCA is the most frequent symptomatic vessel presenting with cortical embolic infarcts. There is a relative lack of leukoaraiosis. Concomitant atrophy, silent brain infarcts and recent ischemia in the symptomatic territory are all frequently associated findings. PMID:23013556

  5. Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family

    PubMed Central

    Dias, Miguel de Sousa; Hamel, Christian P.; Meunier, Isabelle; Varin, Juliette; Blanchard, Steven; Boyard, Fiona; Sahel, José-Alain

    2017-01-01

    Purpose To report the clinical and genetic findings of one family with autosomal recessive cone dystrophy (CD) and to identify the causative mutation. Methods An institutional study of three family members from two generations. The clinical examination included best-corrected Snellen visual acuity measurement, fundoscopy, the Farnsworth D-15 color vision test, a full-field electroretinogram (ERG) that incorporated the International Society for Clinical Electrophysiology of Vision standards and methodology, fundus autofluorescence (FAF) and infrared (IR), and spectral-domain optical coherence tomography (SD-OCT). Genetic findings were achieved with DNA analysis using whole exome sequencing (WES) and Sanger sequencing. Results The proband, a 9-year-old boy, presented with a condition that appeared to be congenital and stationary. The clinical presentation initially reflected incomplete congenital stationary night blindness (icCSNB) because of myopia, a decrease in visual acuity, abnormal oscillatory potentials, and reduced amplitudes on the 30 Hz flicker ERG but was atypical because there were no clear electronegative responses. However, no disease-causing mutations in the genes underlying icCSNB were identified. Following WES analysis of family members, a homozygous splice-site mutation in intron 3 of TTLL5 (c.182–3_182–1delinsAA) was found cosegregating within the phenotype in the family. Conclusions The distinction between icCSNB and CD phenotypes is not always straightforward in young patients. The patient was quite young, which most likely explains why the progression of the CD was not obvious. WES analysis provided prompt diagnosis for this family; thus, the use of this technique to refine the diagnosis is highlighted in this study. PMID:28356705

  6. Intimate Partner Violence in the Great Recession

    PubMed Central

    Schneider, Daniel; Harknett, Kristen; McLanahan, Sara

    2016-01-01

    In the United States, the Great Recession was marked by severe negative shocks to labor market conditions. In this study, we combine longitudinal data from the Fragile Families and Child Wellbeing Study with U.S. Bureau of Labor Statistics data on local area unemployment rates to examine the relationship between adverse labor market conditions and mothers' experiences of abusive behavior between 2001 and 2010. Unemployment and economic hardship at the household level were positively related to abusive behavior. Further, rapid increases in the unemployment rate increased men's controlling behavior toward romantic partners even after we adjust for unemployment and economic distress at the household level. We interpret these findings as demonstrating that the uncertainty and anticipatory anxiety that go along with sudden macroeconomic downturns have negative effects on relationship quality, above and beyond the effects of job loss and material hardship. PMID:27003136

  7. Did the Great Recession influence retirement plans?

    PubMed

    Szinovacz, Maximiliane E; Davey, Adam; Martin, Lauren

    2015-04-01

    The recent recession constitutes one of the macro forces that may have influenced workers' retirement plans. We evaluate a multilevel model that addresses the influence of macro-, meso-, and micro-level factors on retirement plans, changes in these plans, and expected retirement age. Using data from Waves 8 and 9 of the Health and Retirement Study (N=2,618), we find that individuals with defined benefit plans are more prone to change toward plans to stop work before the stock market declined, whereas the opposite trend holds for those without pensions. Debts, ability to reduce work hours, and firm unionization also influenced retirement plans. Findings suggest retirement planning education may be particularly important for workers without defined pensions, especially in times of economic volatility.

  8. Statistical tests for recessive lethal-carriers.

    PubMed

    Hamilton, M A; Haseman, J K

    1979-08-01

    This paper presents a statistical method for testing whether a male mouse is a recessive lethal-carrier. The analysis is based on a back-cross experiment in which the male mouse is mated with some of his daughters. The numbers of total implantations and intrauterine deaths in each litter are recorded. It is assumed that, conditional on the number of total implantations, the number of intrauterine deaths follows a binomial distribution. Using computer-simulated experimentation it is shown that the proposed statistical method, which is sensitive to the pattern of intrauterine death rates, is more powerful than a test based only on the total number of implant deaths. The proposed test requires relatively simple calculations and can be used for a wide range of values of total implantations and background implant mortality rates. For computer-simulated experiments, there was no practical difference between the empirical error rate and the nominal error rate.

  9. The relationship between periodontal status and peripheral levels of neutrophils in two consanguineous siblings with severe congenital neutropenia: case reports.

    PubMed

    Tözüm, Tolga Fikret; Berker, Ezel; Ersoy, Fügen; Tezcan, Iihan; Sanal, Ozden

    2003-03-01

    Congenital neutropenia is characterized by a severe reduction in absolute neutrophil counts, resulting in an almost total absence of neutrophils. It is well known that severe neutropenia affects periodontal status. Oral manifestations include ulcerations, gingival desquamation, gingival inflammation, attachment loss, and alveolar bone loss which may result in tooth loss. Treatment with granulocyte-colony stimulating factor (G-CSF) may improve this periodontal condition. This article reports the relationship between periodontal disease status and peripheral neutrophil levels in two consanguineous siblings with severe congenital neutropenia who did not receive routine G-CSF for 2 years prior to examination. Both siblings were given scaling, root planing, and periodontal prophylaxis in regular follow-up visits. This report demonstrates that periodontal therapy supported by adequate oral hygiene may result in restoration of neutrophil counts in siblings with congenital neutropenia.

  10. Return to physical activity after gastrocnemius recession

    PubMed Central

    Tang Qian Ying, Camelia; Lai Wei Hong, Sean; Lee, Bing Howe; Thevendran, Gowreeson

    2016-01-01

    AIM To prospectively investigate the time taken and patients’ ability to resume preoperative level of physical activity after gastrocnemius recession. METHODS Endoscopic gastrocnemius recession (EGR) was performed on 48 feet in 46 consecutive sportspersons, with a minimum follow-up of 24 mo. The Halasi Ankle Activity Score was used to quantify the level of physical activity. Time taken to return to work and physical activity was recorded. Functional outcomes were evaluated using the short form 36 (SF-36), American Orthopedic Foot and Ankle Society (AOFAS) Hindfoot score and modified Olerud and Molander (O and M) scores respectively. Patient’s satisfaction and pain experienced were assessed using a modified Likert scale and visual analogue scales. P-value < 0.05 was considered statistically significant. RESULTS Ninety-one percent (n = 42) of all patients returned to their preoperative level of physical activity after EGR. The mean time for return to physical activity was 7.5 (2-24) mo. Ninety-eight percent (n = 45) of all patients were able to return to their preoperative employment status, with a mean time of 3.6 (1-12) mo. Ninety-six percent (n = 23) of all patients with an activity score > 2 were able to resume their preoperative level of physical activity in mean time of 8.8 mo, as compared to 86% (n = 19) of patients whose activity score was ≤ 2, with mean time of 6.1 mo. Significant improvements were noted in SF-36, AOFAS hindfoot and modified O and M scores. Ninety percent of all patients rated good or very good outcomes on the Likert scale. CONCLUSION The majority of patients were able to return to their pre-operative level of sporting activity after EGR. PMID:27900272

  11. Age-standardized Incidence Rates for Leukemia Associated with Consanguineous Marriages in 68 Countries, an Ecological Study

    PubMed Central

    Saadat, Mostafa

    2015-01-01

    Consanguineous marriage that defines as a union between biologically related persons has a variety of known deleterious correlations with factors that affect public health within human populations. To investigate the association between the mean of inbreeding coefficient (α) and incidence of leukemia, the present ecological study on 68 countries was carried out. Statistical analysis showed that the age-standardized incidence rate of leukemia positively correlated with log10GNI per capita (r=0.699, df=66, P<0.001) and negatively correlated with log10α (r=−0.609, df=66, P<0.001). Controlling log10GNI per capita, a significant negative correlation between log10α and the age-standardized incidence rate of leukemia was observed (r=−0.392, df=65, P=0.001). The countries were stratified according to their annual GNI per capita, low and high-income countries with GNI per capita less than and more than 10,000$, respectively. Statistical analysis showed that in high-income countries, after controlling for log10GNI per capita, the correlation between the age-standardized incidence rate of leukemia and log10α was still significant (r=−0.600, df=36, P<0.001). It should be noted that there was no significant association between the age-standardized mortality rate due to leukemia and log10α (P>0.05). The present finding indicates that the rate of leukemia, age-standardized for incidence, is lower in countries with a high prevalence of consanguineous marriages. PMID:25960855

  12. Consanguinity rate and delay in diagnosis in Turkish patients with combined immunodeficiencies: a single-center study.

    PubMed

    Azarsiz, Elif; Gulez, Nesrin; Edeer Karaca, Neslihan; Aksu, Guzide; Kutukculer, Necil

    2011-02-01

    Combined immunodeficiency diseases comprise a group of disorders with different molecular basis. Clinical and immunological phenotypes for each group are extremely heterogenous. The frequency of combined immunodeficiencies may vary in different countries. The most frequent forms of combined immunodeficiency show inherited defects in development of T and/or B lymphocytes. These defects are classified according to immunologic phenotype and are categorized into T-B+ or T-B- including forms with or without natural killer lymphocytes. We report here twenty-three patients (female/male: 12/11) with combined immunodeficiency showing different immunological and clinical phenotypes, majority of whom were admitted because of severe upper and lower respiratory tract infections. Mean age of the study group, mean age at onset of the symptoms, and diagnosis were 47.5 ± 42.2, 11.2 ± 17.3, and 19.5 ± 23.8 months, respectively. There was nearly 8 months time delay between beginning of symptoms and diagnosis. Within the combined immunodeficiency phenotypes, T-B-NK+ category was the most frequent phenotype. Consanguinity was positive in 73.9% (n = 17) of patients while it was about 80.0% (n = 8) in deceased ten children. Bone marrow or umblical cord stem cell transplantation was applied to 11 of them. Three patients deceased after transplantation and seven patients deceased without transplantation. Twelve patients are being followed by prophylactic treatment. In conclusion; combined immunodeficiencies are frequent in our country because of high rate of consanguinity. T-B- combined immunodeficiencies are more often observed, and infants presenting severe infections beginning in the first 3 months of life have to be examined for combined immunodeficiencies. Shortening of time delay in diagnosis will increase success of life-saving treatment.

  13. Children's Recess Physical Activity: Movement Patterns and Preferences

    ERIC Educational Resources Information Center

    Woods, Amelia Mays; Graber, Kim C.; Daum, David Newman

    2012-01-01

    The benefits of recess can be reaped by all students regardless of socioeconomic status, race, or gender and at relatively little cost. The purpose of this study was to examine physical activity (PA) variables related to the recess PA patterns of third and fourth grade children and the social preferences and individuals influencing their PA…

  14. Recess Physical Activity Packs in Elementary Schools: A Qualitative Investigation

    ERIC Educational Resources Information Center

    Elliott, Steven; Combs, Sue; Boyce, Robert

    2011-01-01

    To supplement the present weekly allotment of 30 minutes of physical education, a school district in southeastern North Carolina identified recess time as part of the state mandated (HSP-S-000) 150 minutes of physical activity (PA) per week and have purchased fitness equipment (recess packs) for the children to use. Twelve participants were…

  15. Physical Education and Recess Contributions to Sixth Graders' Physical Activity

    ERIC Educational Resources Information Center

    Gutierrez, Ashley A.; Williams, Skip M.; Coleman, Margaret M.; Garrahy, Deborah A.; Laurson, Kelly R.

    2016-01-01

    Background: The purpose of this study was twofold: (a) to examine the percentage of the daily threshold (12,000 steps) that physical education (PE) class and recess contribute to 6th grade students' overall daily physical activity (PA) and (b) to examine the relationships between gender, PA outside of school, BMI, and steps during both recess and…

  16. Children's Physical Activity Levels during Indoor Recess Dance Videos

    ERIC Educational Resources Information Center

    Erwin, Heather; Koufoudakis, Ryann; Beighle, Aaron

    2013-01-01

    Background: Children's physical activity (PA) levels remain low, and schools are being asked to assume a leadership role in PA promotion. Research suggests outdoor recess contributes to children's overall PA levels. However, similar research is not available for indoor recess, which occurs frequently due to a variety of factors. The purpose of…

  17. Withholding Recess from Elementary School Students: Policies Matter

    ERIC Educational Resources Information Center

    Turner, Lindsey; Chriqui, Jamie F.; Chaloupka, Frank J.

    2013-01-01

    Background: Recess is a key aspect of a healthy elementary school environment and helps to keep students physically active during the school day. Although national organizations recommend that students not be withheld from recess, this practice occurs in schools. This study examined whether district policies were associated with school practices…

  18. Who Suffers during Recessions? NBER Working Paper No. 17951

    ERIC Educational Resources Information Center

    Hoynes, Hilary W.; Miller, Douglas L.; Schaller, Jessamyn

    2012-01-01

    In this paper we examine how business cycles affect labor market outcomes in the United States. We conduct a detailed analysis of how cycles affect outcomes differentially across persons of differing age, education, race, and gender, and we compare the cyclical sensitivity during the Great Recession to that in the early 1980s recession. We present…

  19. American undergraduate students' value development during the Great Recession.

    PubMed

    Park, Heejung; Twenge, Jean M; Greenfield, Patricia M

    2017-02-01

    The Great Recession's influence on American undergraduate students' values was examined, testing Greenfield's and Kasser's theories concerning value development during economic downturns. Study 1 utilised aggregate-level data to investigate (a) population-level value changes between the pre-recession (2004-2006: n = 824,603) and recession freshman cohort (2008-2010: n = 662,262) and (b) overall associations of population-level values with national economic climates over long-term periods by correlating unemployment rates and concurrent aggregate-level values across 1966-2015 (n = 10 million). Study 2 examined individual-level longitudinal value development from freshman to senior year, and whether the developmental trajectories differed between those who completed undergraduate education before the Great Recession (freshmen in 2002, n = 12,792) versus those who encountered the Great Recession during undergraduate years (freshmen in 2006, n = 13,358). Results suggest American undergraduate students' increased communitarianism (supporting Greenfield) and materialism (supporting Kasser) during the Great Recession. The recession also appears to have slowed university students' development of positive self-views. Results contribute to the limited literature on the Great Recession's influence on young people's values. They also offer theoretical and practical implications, as values of this privileged group of young adults are important shapers of societal values, decisions, and policies.

  20. The Impact of the Recession on College Students

    ERIC Educational Resources Information Center

    Berg-Cross, Linda; Green, Rodney

    2010-01-01

    This article had three goals: (a) to provide a brief economic review of the relationship between recessionary times, institutional reactions, and the life trajectory of recession-era college students; (b) to discuss the recession-related psychosocial stressors facing today's college students; and (c) to discuss how counseling centers can help…

  1. Intervention effects on physical activity and insulin levels in men of Pakistani origin living in Oslo: a randomised controlled trial.

    PubMed

    Andersen, Eivind; Høstmark, Arne T; Holme, Ingar; Anderssen, Sigmund A

    2013-02-01

    High prevalence of type 2 diabetes (T2D) is seen in some immigrant groups in Western countries, particularly in those from the Indian subcontinent. Our aims were to increase the physical activity (PA) level in a group of Pakistani immigrant men, and to see whether any increase was associated with reduced serum glucose and insulin concentrations. The intervention was developed in collaboration with the Pakistani community. It used a social cognitive theory framework and consisted of structured supervised group exercises, group lectures, individual counselling and telephone follow-up. One- hundred and fifty physically inactive Pakistani immigrant men living in Oslo, Norway, were randomised to either a control group or an intervention group. The 5-month intervention focused on increasing levels of PA, which were assessed by use of accelerometer (Actigraph MTI 7164) recordings. Risk of diabetes was assessed by serum glucose and insulin concentrations determined in a fasted state, and after an oral glucose tolerance test (OGTT). ANCOVA was used to assess differences between groups. There was a mean difference in PA between the two groups of 49 counts per minute per day, representing a 15 % (95 % CI = 8.7-21.2; P = 0.01) higher increase in total PA level in the intervention group than in the control group. Insulin values taken 2 h after an OGTT were reduced in the intervention group by 27 % (95 % CI = 18.9-35.0; P = 0.02) more than those in the control group. There were no differences in fasting or postprandial glucose values between the groups at the follow-up test. This type of intervention can increase PA and reduce serum insulin in Pakistani immigrant men, thereby presumably reducing their risk of T2D.

  2. Determination of Asymptomatic Malaria among Afghani and Pakistani Immigrants and Native Population in South of Kerman Province, Iran

    PubMed Central

    AMIRSHEKARI, Mohammad Bagher; NATEGHPOUR, Mehdi; RAEISI, Ahmad; MOTEVALLI HAGHI, Afsaneh; FARIVAR, Leila; EDRISSIAN, Gholamhosein

    2016-01-01

    Background: This study was proposed to monitor the situation of asymptomatic malaria among the native population and Afghani and Pakistani immigrants in Kahnooj and Ghale-Ganj districts from Kerman Province, Southeastern Iran. Methods: A number of 180 and 120 individuals from Kahnooj and Ghale-Ganj respectively were registered and considered based on a cross-sectional surveillance method. From 300 registered cases, 200 individuals (66.7%) were selected among Afghani and Pakistani immigrants and the rest (33.3%) were native resident individuals. All samples were processed with employing microscopical examination, Rapid Diagnostic Tests (RDTs) and Semi- nested Multiplex PCR techniques. Results: None of the samples collected from native residents showed any malaria parasite, but among Afghani immigrants, one asymptomatic vivax malaria was detected in a 12 yr old girl with 280 parasites per microliter of blood. Moreover, one symptomatic vivax malaria was detected from a Pakistani immigrant with 47560 parasites per microliter of blood. All results obtained via microscopical method, confirmed by RDTs and PCR techniques. Conclusion: To achieve the malaria elimination program different studies are needed that to be performed. Monitoring the asymptomatic malaria in all over the malaria endemic areas especially among the immigrant individuals is the most crucial necessity. PMID:28096860

  3. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

    PubMed

    Vermeer, Sascha; Hoischen, Alexander; Meijer, Rowdy P P; Gilissen, Christian; Neveling, Kornelia; Wieskamp, Nienke; de Brouwer, Arjan; Koenig, Michel; Anheim, Mathieu; Assoum, Mirna; Drouot, Nathalie; Todorovic, Slobodanka; Milic-Rasic, Vedrana; Lochmüller, Hanns; Stevanin, Giovanni; Goizet, Cyril; David, Albert; Durr, Alexandra; Brice, Alexis; Kremer, Berry; van de Warrenburg, Bart P C; Schijvenaars, Mascha M V A P; Heister, Angelien; Kwint, Michael; Arts, Peer; van der Wijst, Jenny; Veltman, Joris; Kamsteeg, Erik-Jan; Scheffer, Hans; Knoers, Nine

    2010-12-10

    Autosomal-recessive cerebellar ataxias comprise a clinically and genetically heterogeneous group of neurodegenerative disorders. In contrast to their dominant counterparts, unraveling the molecular background of these ataxias has proven to be more complicated and the currently known mutations provide incomplete coverage for genotyping of patients. By combining SNP array-based linkage analysis and targeted resequencing of relevant sequences in the linkage interval with the use of next-generation sequencing technology, we identified a mutation in a gene and have shown its association with autosomal-recessive cerebellar ataxia. In a Dutch consanguineous family with three affected siblings a homozygous 12.5 Mb region on chromosome 3 was targeted by array-based sequence capture. Prioritization of all detected sequence variants led to four candidate genes, one of which contained a variant with a high base pair conservation score (phyloP score: 5.26). This variant was a leucine-to-arginine substitution in the DUF 590 domain of a 16K transmembrane protein, a putative calcium-activated chloride channel encoded by anoctamin 10 (ANO10). The analysis of ANO10 by Sanger sequencing revealed three additional mutations: a homozygous mutation (c.1150_1151del [p.Leu384fs]) in a Serbian family and a compound-heterozygous splice-site mutation (c.1476+1G>T) and a frameshift mutation (c.1604del [p.Leu535X]) in a French family. This illustrates the power of using initial homozygosity mapping with next-generation sequencing technology to identify genes involved in autosomal-recessive diseases. Moreover, identifying a putative calcium-dependent chloride channel involved in cerebellar ataxia adds another pathway to the list of pathophysiological mechanisms that may cause cerebellar ataxia.

  4. PREFACE: 3rd Italian-Pakistani Workshop on Relativistic Astrophysics (IPWRA2011)

    NASA Astrophysics Data System (ADS)

    De Paolis, Francesco; Siddiqui, Azad A.

    2012-03-01

    The Third Italian-Pakistani Workshop on Relativistic Astrophysics was held at the Rectorate of the University of Salento in Lecce on June 20-22, 2011. It follows the first two editions of this Workshop held at the Department of Physics of the University of Salento on 20-22 June 2007 and at ICRA (International Center for Relativistic Astrophysics) in Pescara on 8-10 July 2009. The Proceedings of the first two editions of this Workshop have been published in two special issues of Nuovo Cimento B [1] and General Relativity and Gravitation [2], respectively. The workshop series, whose aim is that of discussing the different aspects (both theoretical and observational) of Relativistic Astrophysics, follows the signature, in 2006, of an agreement between the University of Salento, Italy and the National University of Sciences and Technology (NUST), Pakistan, and aims at promoting scientific and academic cooperation between the parties. The organizing committee of this Workshop has decided to dedicate the present workshop's edition to the celebration of the 65th birthday of the founder of this series of meetings, Prof. Asghar Qadir, one of the greatest Pakistani scientists of any time and a renowned world expert in the theory of general relativity. Many of the Workshop's participants have either been students or collaborators of Asghar Qadir, or both. In Pakistan the words Relativity and Asghar Qadir are synonymous. It would not be entirely wrong to say that anybody who has anything to do with relativity in Pakistan is either his student or a student of one of his students. Asghar Qadir has inspired generations of researchers and teachers, and continues to be a source of inspiration for hard work and dedication. He is a mentor of Pakistani scientists and the equivalent in Pakistan of what John Archibald Wheeler has been in the US. Qadir and Wheeler An autographed picture of John Archibald Wheeler with a young Asghar Qadir Asghar had the rare privilege of being introduced

  5. Economic recession and mental health: an overview.

    PubMed

    Cooper, Brian

    2011-01-01

    Effects of the current global economic downturn on population mental health will emerge in the years ahead. Judging from earlier experience of financial crises in various parts of the world, stresses associated with rising unemployment, poverty and social insecurity will lead to upward trends in many national suicide rates, as well as to less readily charted increase in the prevalence of psychiatric illness, alcohol-related disorders and illicit drug use. At the same time, mental health services are being cut back as part of government austerity programs. Budget cuts will thus affect psychiatric services adversely just when economic stressors are raising the levels of need and demand in affected populations. Proactive fiscal and social policies could, however, help to mitigate the health consequences of recession. Evidence- based preventive measures include active labor market and family support programs, regulation of alcohol prices and availability, community care for known high-risk groups, and debt relief projects. Economic mental health care could best be achieved, not by decimating services but by planning and deploying these to meet the needs of defined area populations.

  6. Calibration apparatus for recess mounted pressure transducers

    NASA Astrophysics Data System (ADS)

    Marcolini, Michael A.; Miller, William T., Jr.; Baals, Robert A.; Martin, Ruth M.

    1992-04-01

    Measurement of surface pressure fluctuations is important in aerodynamic studies and is conventionally accomplished via thin surface mounted transducers. These transducers contaminate the airflow, leading to the use of transducers located beneath the surface and communicating thereto via a pipette. This solution creates its own problem of transducer calibration due to the structure of the pipette. A calibration apparatus and method for calibrating a pressure transducer are provided. The pressure transducer is located within a test structure having a pipette leading from an outer structure surface to the pressure transducer. The calibration apparatus defines an acoustic cavity. A first end of the acoustic cavity is adapted to fluidly communicate with the pipette leading to the pressure transducer, wherein a channel is formed from the acoustic cavity to the transducer. An acoustic driver is provided for acoustically exciting fluid in the acoustic cavity to generate pressure waves which propagate to the pressure transducer. A pressure sensing microphone is provided for sensing the pressure fluctuations in the cavity near the cavity end, whereby this sensed pressure is compared with a simultaneously pressure sensed by the pressure transducer to permit calibration of the pressure transducer sensings. Novel aspects of the present invention include its use of a calibration apparatus to permit in-situ calibration of recess mounted pressure transducers.

  7. Recessions, Job Loss, and Mortality Among Older US Adults

    PubMed Central

    Beckfield, Jason

    2014-01-01

    Objectives. We analyzed how recessions and job loss jointly shape mortality risks among older US adults. Methods. We used data for 50 states from the Health and Retirement Study and selected individuals who were employed at ages 45 to 66 years during 1992 to 2011. We assessed whether job loss affects mortality risks, whether recessions moderate the effect of job loss on mortality, and whether individuals who do and do not experience job loss are differentially affected by recessions. Results. Compared with individuals not experiencing job loss, mortality risks among individuals losing their job in a recession were strongly elevated (hazard ratio = 1.6; 95% confidence interval = 1.1, 2.3). Job loss during normal times or booms is not associated with mortality. For employed workers, we found a reduction in mortality risks if local labor market conditions were depressed, but this result was not consistent across different model specifications. Conclusions. Recessions increase mortality risks among older US adults who experience job loss. Health professionals and policymakers should target resources to this group during recessions. Future research should clarify which health conditions are affected by job loss during recessions and whether access to health care following job loss moderates this relation. PMID:25211731

  8. Obstruction of adaptation in diploids by recessive, strongly deleterious alleles.

    PubMed

    Assaf, Zoe June; Petrov, Dmitri A; Blundell, Jamie R

    2015-05-19

    Recessive deleterious mutations are common, causing many genetic disorders in humans and producing inbreeding depression in the majority of sexually reproducing diploids. The abundance of recessive deleterious mutations in natural populations suggests they are likely to be present on a chromosome when a new adaptive mutation occurs, yet the dynamics of recessive deleterious hitchhikers and their impact on adaptation remains poorly understood. Here we model how a recessive deleterious mutation impacts the fate of a genetically linked dominant beneficial mutation. The frequency trajectory of the adaptive mutation in this case is dramatically altered and results in what we have termed a "staggered sweep." It is named for its three-phased trajectory: (i) Initially, the two linked mutations have a selective advantage while rare and will increase in frequency together, then (ii), at higher frequencies, the recessive hitchhiker is exposed to selection and can cause a balanced state via heterozygote advantage (the staggered phase), and (iii) finally, if recombination unlinks the two mutations, then the beneficial mutation can complete the sweep to fixation. Using both analytics and simulations, we show that strongly deleterious recessive mutations can substantially decrease the probability of fixation for nearby beneficial mutations, thus creating zones in the genome where adaptation is suppressed. These mutations can also significantly prolong the number of generations a beneficial mutation takes to sweep to fixation, and cause the genomic signature of selection to resemble that of soft or partial sweeps. We show that recessive deleterious variation could impact adaptation in humans and Drosophila.

  9. A general geomorphological recession flow model for river basins

    NASA Astrophysics Data System (ADS)

    Biswal, Basudev; Nagesh Kumar, D.

    2013-08-01

    Recession flows in a basin are controlled by the temporal evolution of its active drainage network (ADN). The geomorphological recession flow model (GRFM) assumes that both the rate of flow generation per unit ADN length (q) and the speed at which ADN heads move downstream (c) remain constant during a recession event. Thereby, it connects the power law exponent of -dQ/dt versus Q (discharge at the outlet at time t) curve, α, with the structure of the drainage network, a fixed entity. In this study, we first reformulate the GRFM for Horton-Strahler networks and show that the geomorphic α (αg) is equal to D/>(D-1>), where D is the fractal dimension of the drainage network. We then propose a more general recession flow model by expressing both q and c as functions of Horton-Strahler stream order. We show that it is possible to have α =α g for a recession event even when q and c do not remain constant. The modified GRFM suggests that α is controlled by the spatial distribution of subsurface storage within the basin. By analyzing streamflow data from 39 U.S. Geological Survey basins, we show that α is having a power law relationship with recession curve peak, which indicates that the spatial distribution of subsurface storage varies across recession events.

  10. New method for calculating a mathematical expression for streamflow recession

    USGS Publications Warehouse

    Rutledge, Albert T.

    1991-01-01

    An empirical method has been devised to calculate the master recession curve, which is a mathematical expression for streamflow recession during times of negligible direct runoff. The method is based on the assumption that the storage-delay factor, which is the time per log cycle of streamflow recession, varies linearly with the logarithm of streamflow. The resulting master recession curve can be nonlinear. The method can be executed by a computer program that reads a data file of daily mean streamflow, then allows the user to select several near-linear segments of streamflow recession. The storage-delay factor for each segment is one of the coefficients of the equation that results from linear least-squares regression. Using results for each recession segment, a mathematical expression of the storage-delay factor as a function of the log of streamflow is determined by linear least-squares regression. The master recession curve, which is a second-order polynomial expression for time as a function of log of streamflow, is then derived using the coefficients of this function.

  11. Surgical management of gingival recession: A clinical update

    PubMed Central

    Alghamdi, Hamdan; Babay, Nadir; Sukumaran, Anil

    2009-01-01

    Gingival recession is defined as the apical migration of the junctional epithelium with exposure of root surfaces. It is a common condition seen in both dentally aware populations and those with limited access to dental care. The etiology of the condition is multifactorial but is commonly associated with underlying alveolar morphology, tooth brushing, mechanical trauma and periodontal disease. Given the high rate of gingival recession defects among the general population, it is imperative that dental practitioners have an understanding of the etiology, complications and the management of the condition. The following review describes the surgical techniques to treat gingival recession. PMID:23960465

  12. The nonuniform recession of the south polar cap of Mars

    NASA Technical Reports Server (NTRS)

    Veverka, J.; Goguen, J.

    1973-01-01

    The nature of the irregular springtime recession of the Martian polar caps is investigated, with particular reference to the southern polar cap. Our current knowledge about the composition of the caps is outlined, and the historical record of their springtime recession is reviewed. An attempt is made to correlate the irregularities of the recession pattern of the southern polar cap with the features of the terrain revealed by Mariner 9 photography at a time when the southern cap was at its minimum extent. The results are interpreted in terms of the physical and meteorological processes active in the polar regions.

  13. Increasing physical activity of children during school recess.

    PubMed

    Hayes, Lynda B; Van Camp, Carole M

    2015-09-01

    Physical activity is crucial for children's health. Fitbit accelerometers were used to measure steps of 6 elementary students during recess. The intervention included reinforcement, self-monitoring, goal setting, and feedback. Steps taken during the intervention phase (M = 1,956 steps) were 47% higher than in baseline (M = 1,326 steps), and the percentage of recess spent in moderate-to-vigorous physical activity was higher during intervention (M = 25%) than in baseline (M = 4%). These methods successfully increased steps during recess and could be used to increase steps in other settings.

  14. Polymorphisms in MTHFR, MS and CBS Genes and Homocysteine Levels in a Pakistani Population

    PubMed Central

    Yakub, Mohsin; Moti, Naushad; Parveen, Siddiqa; Chaudhry, Bushra; Azam, Iqbal; Iqbal, Mohammad Perwaiz

    2012-01-01

    Background Hyperhomocysteinemia (>15 µmol/L) is highly prevalent in South Asian populations including Pakistan. In order to investigate the genetic determinants of this condition, we studied 6 polymorphisms in genes of 3 enzymes - methylenetetrahydrofolate reductase (MTHFR; C677T; A1298C), methionine synthase (MS; A2756G), cystathionine-β-synthase (CBS; T833C/844ins68, G919A) involved in homocysteine metabolism and investigated their interactions with nutritional and environmental factors in a Pakistani population. Methodology/Principal Findings In a cross-sectional survey, 872 healthy adults (355 males and 517 females; age 18–60 years) were recruited from a low-income urban population in Karachi. Fasting venous blood was obtained and assessed for plasma/serum homocysteine; folate, vitamin B12, pyridoxal phosphate and blood lead. DNA was isolated and genotyping was performed by PCR-RFLP (restriction-fragment-length- polymorphism) based assays. The average changes in homocysteine levels for MTHFR 677CT and TT genotypes were positive [β(SE β), 2.01(0.63) and 16.19(1.8) µmol/L, respectively]. Contrary to MTHFR C677T polymorphism, the average changes in plasma homocysteine levels for MS 2756AG and GG variants were negative [β(SE β), −0.56(0.58) and −0.83(0.99) µmol/L, respectively]. The average change occurring for CBS 844ins68 heterozygous genotype (ancestral/insertion) was −1.88(0.81) µmol/L. The combined effect of MTHFR C677T, MS A2756G and CBS 844ins68 genotypes for plasma homocysteine levels was additive (p value <0.001). Odds of having hyperhomocysteinemia with MTHFR 677TT genotype was 10-fold compared to MTHFR 677CC genotype [OR (95%CI); 10.17(3.6–28.67)]. Protective effect towards hyperhomocysteinemia was observed with heterozygous (ancestral/insertion) genotype of CBS 844ins68 compared to homozygous ancestral type [OR (95% CI); 0.58 (0.34–0.99)]. Individuals with MTHFR 677CT or TT genotypes were at a greater risk of hyperhomocysteinemia in

  15. A comparison of physical activity and sedentary behaviour in 9–11 year old British Pakistani and White British girls: a mixed methods study

    PubMed Central

    2014-01-01

    Background Previous studies suggest that British children of South Asian origin are less active and more sedentary than White British children. However, little is known about the behaviours underlying low activity levels, nor the familial contexts of active and sedentary behaviours in these groups. Our aim was to test hypotheses about differences between British Pakistani and White British girls using accelerometry and self-reports of key active and sedentary behaviours, and to obtain an understanding of factors affecting these behaviours using parental interviews. Methods Participants were 145 girls (70 White British and 75 British Pakistani) aged 9–11 years and parents of 19 of the girls. Accelerometry data were collected over 4 days and girls provided 24-hour physical activity interviews on 3 of these days. Multilevel linear regression models and generalised linear mixed models tested for ethnic differences in activity, sedentary time, and behaviours. Semi-structured interviews were conducted with parents. Results Compared to White British girls, British Pakistani girls accumulated 102 (95% CI 59, 145) fewer counts per minute and 14 minutes (95% CI 8, 20) less time in moderate to vigorous physical activity per day. British Pakistani girls spent more time (28 minutes per day, 95% CI 14, 42) sedentary. Fewer British Pakistani than White British girls reported participation in organised sports and exercise (OR 0.22 95% CI 0.08, 0.64) or in outdoor play (OR 0.42 95% CI 0.20, 0.91). Fewer British Pakistani girls travelled actively to school (OR 0.26 95% CI 0.10, 0.71). There was no significant difference in reported screen time (OR 0.88 95% CI 0.45, 1.73). Parental interviews suggested that structural constraints (e.g. busy family schedules) and parental concerns about safety were important influences on activity levels. Conclusions British Pakistani girls were less active than White British girls and were less likely to participate in key active behaviours

  16. Molecular mechanisms of autosomal recessive hypercholesterolemia.

    PubMed

    Wilund, Kenneth R; Yi, Ming; Campagna, Filomena; Arca, Marcello; Zuliani, Giovanni; Fellin, Renato; Ho, Yiu-Kee; Garcia, J Victor; Hobbs, Helen H; Cohen, Jonathan C

    2002-11-15

    Mutations in the phosphotyrosine-binding domain protein ARH cause autosomal recessive hypercholesterolemia (ARH), an inherited form of hypercholesterolemia due to a tissue-specific defect in the removal of low density lipoproteins (LDL) from the circulation. LDL uptake by the LDL receptor (LDLR) is markedly reduced in the liver but is normal or only moderately impaired in cultured fibroblasts of ARH patients. To define the molecular mechanism underlying ARH we examined ARH mRNA and protein in fibroblasts and lymphocytes from six probands with different ARH mutations. None of the probands had detectable full-length ARH protein in fibroblasts or lymphoblasts. Five probands were homozygous for mutations that introduced premature termination codons. No relationship was apparent between the site of the mutation in ARH and the amount of mRNA. The only mutation identified in the remaining proband was a SINE VNTR Alu (SVA) retroposon insertion in intron 1, which was associated with no detectable ARH mRNA. (125)I-LDL degradation was normal in ARH fibroblasts, as previously reported. In contrast, LDLR function was markedly reduced in ARH lymphoblasts, despite a 2-fold increase in LDL cell surface binding in these cells. These data indicate that all ARH mutations characterized to date preclude the synthesis of full-length ARH and that ARH is required for normal LDLR function in lymphocytes and hepatocytes, but not in fibroblasts. Residual LDLR function in cells that do not require ARH may explain why ARH patients have lower plasma LDL levels than do patients with homozygous familial hypercholesterolemia who have no functional LDLRs.

  17. Quantitative Fundus Autofluorescence in Recessive Stargardt Disease

    PubMed Central

    Burke, Tomas R.; Duncker, Tobias; Woods, Russell L.; Greenberg, Jonathan P.; Zernant, Jana; Tsang, Stephen H.; Smith, R. Theodore; Allikmets, Rando; Sparrow, Janet R.; Delori, François C.

    2014-01-01

    Purpose. To quantify fundus autofluorescence (qAF) in patients with recessive Stargardt disease (STGD1). Methods. A total of 42 STGD1 patients (ages: 7–52 years) with at least one confirmed disease-associated ABCA4 mutation were studied. Fundus AF images (488-nm excitation) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for variable laser power and detector sensitivity. The gray levels (GLs) of each image were calibrated to the reference, zero GL, magnification, and normative optical media density to yield qAF. Texture factor (TF) was calculated to characterize inhomogeneities in the AF image and patients were assigned to the phenotypes of Fishman I through III. Results. Quantified fundus autofluorescence in 36 of 42 patients and TF in 27 of 42 patients were above normal limits for age. Young patients exhibited the relatively highest qAF, with levels up to 8-fold higher than healthy eyes. Quantified fundus autofluorescence and TF were higher in Fishman II and III than Fishman I, who had higher qAF and TF than healthy eyes. Patients carrying the G1916E mutation had lower qAF and TF than most other patients, even in the presence of a second allele associated with severe disease. Conclusions. Quantified fundus autofluorescence is an indirect approach to measuring RPE lipofuscin in vivo. We report that ABCA4 mutations cause significantly elevated qAF, consistent with previous reports indicating that increased RPE lipofuscin is a hallmark of STGD1. Even when qualitative differences in fundus AF images are not evident, qAF can elucidate phenotypic variation. Quantified fundus autofluorescence will serve to establish genotype-phenotype correlations and as an outcome measure in clinical trials. PMID:24677105

  18. Miniature paint-spray gun for recessed areas

    NASA Technical Reports Server (NTRS)

    Vanasse, M. A.

    1968-01-01

    Miniature spray gun regulates paints and other liquids to spray at close range, facilitating spraying of remote or recessed areas. Individual valves for regulating air pressure and paint maximizes atomization for low pressure spraying.

  19. Fibrous Tendon Hypertrophy after Gastrocnemius Recession: A Case Report.

    PubMed

    Jastifer, James R; Coughlin, Michael J

    2016-01-01

    Surgical complications after gastrocnemius recession have been rare in published studies. We report a case of symptomatic fibrous tendon hypertrophy requiring revision surgery. Additionally, we have provided a review of the published data on the complications related to this procedure.

  20. Dropped-head in recessive oculopharyngeal muscular dystrophy.

    PubMed

    Garibaldi, Matteo; Pennisi, Elena Maria; Bruttini, Mirella; Bizzarri, Veronica; Bucci, Elisabetta; Morino, Stefania; Talerico, Caterina; Stoppacciaro, Antonella; Renieri, Alessandra; Antonini, Giovanni

    2015-11-01

    A 69-year-old woman presented a dropped head, caused by severe neck extensor weakness that had started two years before. She had also developed a mild degree of dysphagia, rhinolalia, eyelid ptosis and proximal limb weakness during the last months. EMG revealed myopathic changes. Muscle MRI detected fatty infiltration in the posterior neck muscles and tongue. Muscle biopsy revealed fiber size variations, sporadic rimmed vacuoles, small scattered angulated fibers and a patchy myofibrillar network. Genetic analysis revealed homozygous (GCN)11 expansions in the PABPN1 gene that were consistent with recessive oculopharyngeal muscular dystrophy (OPMD). There are a few reports of the recessive form, which has a later disease onset with milder symptoms and higher clinical variability than the typical dominantly inherited form. This patient, who is the first Italian and the eighth worldwide reported case of recessive OPMD, is also the first case of OPMD with dropped-head syndrome, which thus expands the clinical phenotype of recessive OPMD.

  1. HYDRORECESSION: A Matlab toolbox for streamflow recession analysis

    NASA Astrophysics Data System (ADS)

    Arciniega-Esparza, Saúl; Breña-Naranjo, José Agustín; Pedrozo-Acuña, Adrián; Appendini, Christian Mario

    2017-01-01

    Streamflow recession analysis from observed hydrographs allows to extract information about the storage-discharge relationship of a catchment and some of their groundwater hydraulic properties. The HYDRORECESSION toolbox, presented in this paper, is a graphical user interface for Matlab and it was developed to analyse streamflow recession curves with the support of different tools. The software extracts hydrograph recessions segments with three different methods (Vogel, Brutsaert and Aksoy) that are later analysed with four of the most common models to simulate recession curves (Maillet, Boussinesq, Coutagne and Wittenberg) and it includes four parameter-fitting techniques (linear regression, lower envelope, data binning and mean squared error). HYDRORECESSION offers tools to parameterize linear and nonlinear storage-outflow relationships and it is useful for regionalization purposes, catchment classification, baseflow separation, hydrological modeling and low flows prediction. HYDRORECESSION is freely available for non-commercial and academic purposes and is available at Matlab File Exchange (http://www.mathworks.com/matlabcentral/fileexchange/51332-hydroecession).

  2. Chemical-mechanical polishing of recessed microelectromechanical devices

    DOEpatents

    Barron, Carole C.; Hetherington, Dale L.; Montague, Stephen

    1999-01-01

    A method is disclosed for micromachining recessed layers (e.g. sacrificial layers) of a microelectromechanical system (MEMS) device formed in a cavity etched into a semiconductor substrate. The method uses chemical-mechanical polishing (CMP) with a resilient polishing pad to locally planarize one or more of the recessed layers within the substrate cavity. Such local planarization using the method of the present invention is advantageous for improving the patterning of subsequently deposited layers, for eliminating mechanical interferences between functional elements (e.g. linkages) of the MEMS device, and for eliminating the formation of stringers. After the local planarization of one or more of the recessed layers, another CMP step can be provided for globally planarizing the semiconductor substrate to form a recessed MEMS device which can be integrated with electronic circuitry (e.g. CMOS, BiCMOS or bipolar circuitry) formed on the surface of the substrate.

  3. Chemical-mechanical polishing of recessed microelectromechanical devices

    DOEpatents

    Barron, C.C.; Hetherington, D.L.; Montague, S.

    1999-07-06

    A method is disclosed for micromachining recessed layers (e.g. sacrificial layers) of a microelectromechanical system (MEMS) device formed in a cavity etched into a semiconductor substrate. The method uses chemical-mechanical polishing (CMP) with a resilient polishing pad to locally planarize one or more of the recessed layers within the substrate cavity. Such local planarization using the method of the present invention is advantageous for improving the patterning of subsequently deposited layers, for eliminating mechanical interferences between functional elements (e.g. linkages) of the MEMS device, and for eliminating the formation of stringers. After the local planarization of one or more of the recessed layers, another CMP step can be provided for globally planarizing the semiconductor substrate to form a recessed MEMS device which can be integrated with electronic circuitry (e.g., CMOS, BiCMOS or bipolar circuitry) formed on the surface of the substrate. 23 figs.

  4. Chemical composition of particles from traditional burning of Pakistani wood species

    NASA Astrophysics Data System (ADS)

    Shahid, Imran; Kistler, Magdalena; Mukhtar, Azam; Ramirez-Santa Cruz, Carlos; Bauer, Heidi; Puxbaum, Hans

    2015-11-01

    Total particulate matter (TPM) emitted during burning of three types of Pakistani wood (eucalyptus camaldulensis, local name Safeeda; acacia nilotica, local name Kikar, Babul; dalbergia sissoo, Shisham, Tali) in a traditional brick stove were collected and analyzed for anhydrosugars, sugar alcohols, trace metals, soluble ions and carbonaceous species. This is a first study reporting anhydrosugars in wood smoke particles emitted during traditional burning of common wood types in Pakistan. Carbonaceous species showed the highest contribution to the particulate matter. Although the total carbon (TC) contribution was similar for all burnings (64.8-70.2%), the EC/OC ratio varied significantly, from 0.2 to 0.3 for Accacia and Dalbergia to 0.7-0.8 for Eucalyptus and Wood-mix. Among inorganic constituents potassium chloride and silicon were found at levels higher than 1%. The levoglucosan concentrations ranged from 3.0 to 6.6% (average 5.6%) with the highest value for Accacia and lowest value for the wood-mix. The high levoglucosan/mannosan ratios of 20-28 were typical for hardwood. The ratio between levoglucosan and galactosan varied stronger and was found to be around 13-20 for Accacia, Eucalyptus and Wood mix, and 43 for Dalbergia. The determined levoglucosan concentrations allowed assessing the conversion factor for calculation of biomass smoke contribution to ambient particulate matter levels in Pakistan.

  5. A study into the genetic basis of aspirin resistance in Pakistani patients with coronary artery disease.

    PubMed

    Mukarram, Osama; Akhtar, Naveed; Junaid, Ayesha; Mohyuddin, Aisha

    2016-07-01

    Aspirin is a key player in the management and prevention of stroke and myocardial infarction in patients with atherothrombosis. About 12% of Pakistanis suffering from coronary artery disease are resistant to aspirin's effects. Clinical, biochemical and genetic factors are known to be responsible for this phenomenon. We conducted this study to investigate whether previously studied polymorphisms in COX-1, GPIIIa, GPIa and P2RYI genes could be the cause of aspirin resistance in our population. Blood samples were collected from 29 aspirin non-responders and 60 ethnically matched responders. Aspirin response assay was performed on IMPACT-R and DNA prepared from blood using the phenol: chloroform method. Genotyping was carried out for four SNPS including COX-1 C50T (rs3842787), GPIIIA PIA1/A2 polymorphism (rs5918), GPIA C807T (rs1126643) and p2RY1 C893T (rs1065776). No statistically significant differences were observed in the allele or genotype frequencies between the aspirin non responders and responders indicating the possible involvement of different genetic determinants of aspirin resistance in our population. This study paves the way for further research into the field of aspirin resistance in Pakistan.

  6. Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases.

    PubMed

    Malik, S; Ullah, S; Afzal, M; Lal, K; Haque, S

    2014-05-01

    Polydactyly, a common hereditary condition with additional digits in hands and/or feet, is a very attractive model to appreciate clinical and genetic heterogeneity. In order to get an insight into its phenotypic manifestations, we ascertained a cohort of 313 independent families with polydactyly from Pakistan; 35% cases turned out to be familial while 65% were sporadic. In majority of the index cases, polydactyly was presented as an isolated digit defect. Preaxial polydactyly types were 48.24% and postaxial were 51.8%. Familial polydactylies mainly had bilateral and symmetrical presentations, whereas sporadic cases were mostly unilateral and less often symmetrical. In the 313 index subjects a total of 508 limbs with additional digits were recorded. Variable expression was evident as the involvement of upper limbs was more common than the lower, right hand than the left, and left foot than the right. The present cohort establishes interesting epidemiological attributes of polydactyly in the Pakistani population and highlights its extraordinary clinical heterogeneity. Molecular analyses of this cohort are anticipated to elucidate novel genetic factors involved in the origin of additional digits in the growing limb and may provide clues to the role of stochastic factors in the etiology of phenotypic variability in polydactyly.

  7. Iron status of the Pakistani population-current issues and strategies.

    PubMed

    Akhtar, Saeed; Ahmed, Anwaar; Ahmad, Asif; Ali, Zulfiqar; Riaz, Muhammad; Ismail, Tariq

    2013-01-01

    The present review aims to highlight the magnitude of iron status of Pakistani population and possible remedies to address iron deficiency among vulnerable groups. A computer-based search was carried out on "PubMed", "Google Search" and "Sciencedirect.com" to retrieve relevant scientific literature published in the last two decades. The search yielded 193 articles, of which 64 were culled and further screening was performed based on the type of vulnerable population groups, age, sex and pregnancy. A thorough review of current literature reveals that iron deficiency (ID) and iron deficiency anemia (IDA) widely persist in Pakistan and necessitate immediate remedial actions. Females of reproductive age and children under 5 years have been shown to be the most IDA affected population segment. Fortification of wheat flour has been suggested as the most viable approach aptly matching Pakistan's needs for combating IDA. The present review further stresses the need for global involvement to scale up efforts for mitigating ID and IDA to achieve Millennium Development Goals (MDGs) that are fundamentally based upon improving nutritional wellbeing of populations in developing economies by 2015.

  8. Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

    PubMed Central

    Shahzad, Mohsin; Yousaf, Sairah; Waryah, Yar M.; Gul, Hadia; Kausar, Tasleem; Tariq, Nabeela; Mahmood, Umair; Ali, Muhammad; Khan, Muzammil A.; Waryah, Ali M.; Shaikh, Rehan S.; Riazuddin, Saima; Ahmed, Zubair M.; Bamshad, Michael J.; Shendure, Jay; Nickerson, Deborah A.; Abecasis, Gonçalo R.; Anderson, Peter; Marchani Blue, Elizabeth; Annable, Marcus; Browning, Brian L.; Buckingham, Kati J.; Chen, Christina; Chin, Jennifer; Chong, Jessica X.; Cooper, Gregory M.; Davis, Colleen P.; Frazar, Christopher; Harrell, Tanya M.; He, Zongxiao; Jain, Preti; Jarvik, Gail P.; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A.; Krumm, Niklas; Leal, Suzanne M.; Luksic, Daniel; Marvin, Colby T.; McGee, Sean; Patterson, Karynne; Perez, Marcos; Phillips, Sam W.; Pijoan, Jessica; Poel, Christa; Ragan, Seamus; Reinier, Frederic; Robertson, Peggy D.; Santos-Cortez, Regie; Shankar, Aditi; Slattery, Krystal; Shephard, Cindy; Shively, Kathryn M.; Siegel, Deborah L.; Smith, Joshua D.; Tabor, Holly K.; Tackett, Monica; Wegener, Marc; Wang, Gao; Wheeler, Marsha M.; Wright, Amber; Yi, Qian

    2017-01-01

    Nonsyndromic oculocutaneous Albinism (nsOCA) is clinically characterized by the loss of pigmentation in the skin, hair, and iris. OCA is amongst the most common causes of vision impairment in children. To date, pathogenic variants in six genes have been identified in individuals with nsOCA. Here, we determined the identities, frequencies, and clinical consequences of OCA alleles in 94 previously unreported Pakistani families. Combination of Sanger and Exome sequencing revealed 38 alleles, including 22 novel variants, segregating with nsOCA phenotype in 80 families. Variants of TYR and OCA2 genes were the most common cause of nsOCA, occurring in 43 and 30 families, respectively. Twenty-two novel variants include nine missense, four splice site, two non-sense, one insertion and six gross deletions. In vitro studies revealed retention of OCA proteins harboring novel missense alleles in the endoplasmic reticulum (ER) of transfected cells. Exon-trapping assays with constructs containing splice site alleles revealed errors in splicing. As eight alleles account for approximately 56% (95% CI: 46.52–65.24%) of nsOCA cases, primarily enrolled from Punjab province of Pakistan, hierarchical strategies for variant detection would be feasible and cost-efficient genetic tests for OCA in families with similar origin. Thus, we developed Tetra-primer ARMS assays for rapid, reliable, reproducible and economical screening of most of these common alleles. PMID:28266639

  9. Validation Study of the Mini-Mental State Examination in Urdu Language for Pakistani Population

    PubMed Central

    Awan, Safia; Shahbaz, Naila; Akhtar, Syed Wasim; Ahmad, Arsalan; Iqbal, Sadaf; Ahmed, Sellal; Naqvi, Haider; Wasay, Mohammad

    2015-01-01

    Validation study of the Mini-Mental State Examination in Urdu language for Pakistani population Objective: This study was conducted primarily to validate and determine the optimal cutoff score in the diagnosis of dementia among Pakistani’s and study the effects of gender and education on the MMSE performance in our population. Methods: Four hundred participants took part in the study. Patient with dementia recruited from five major hospitals from Pakistan. The MMSE was translated into Urdu. Results: There were 61 men and 39 women in dementia group and 225 men and 75 women in the control group. The mean score of Urdu MMSE were lower in patients with dementia 18.5 ± 5.6 (range 0-30) as compared to the controls 26.8 ± 2.6 (range 7-30). This difference between groups was statistically significant (p<0.001). Educational based MMSE score below 15 yielded perfect sensitivity and specificity for the diagnosis of dementia. Conclusions: These finding confirm the influence of level of education on MMSE score and education stratified cutoff scores should be used while screening for cognitive impairment in this population. PMID:26191094

  10. Indo-Pakistani nuclear issue: A US policy perspective. Master's thesis

    SciTech Connect

    Wolf, J.L.

    1992-06-01

    This thesis examines U.S. nonproliferation policy and the problem of nuclear proliferation in India and Pakistan. Its central hypothesis is that the end of the Cold War has created an opportunity to advance U.S. nonproliferation interests and work with both India and Pakistan to reduce the threat of a nuclear confrontation on the Indian Subcontinent. The thesis assesses both the motives for and the current status of the nuclear weapons programs in India and Pakistan. It also presents some plausible scenarios concerning future courses those programs could take. Finally, it presents a set of policy recommendations directed toward reducing Indo-Pakistani nuclear tensions and laying the foundations to make a future South Asian nuclear nonproliferation regime possible. Ultimately, this approach would create safer, more stable security arrangements for India and Pakistan and further reduce the threat from nuclear weapons in the post-Cold War world. United States, India, Pakistan, U.S.-Indian Relations, U.S.-Pakistan Relations, Nuclear Weapons, Nonproliferation, U.S. Foreign Policy.

  11. Causes of short stature in Pakistani children found at an Endocrine Center

    PubMed Central

    Jawa, Ali; Riaz, Syed Hunain; Khan Assir, Muhammad Zaman; Afreen, Bahjat; Riaz, Amna; Akram, Javed

    2016-01-01

    Background and Objective: Short stature is defined as height below 3rd centile. Causes of short stature can range from familial, endocrine disorders, chronic diseases to chromosomal disorders. Most common cause in literature being idiopathic short stature. Early detection and management of remedial disorders like malnutrition and vitamin D deficiency, Endocrine disorders like growth hormone deficiency & hypothyroidism can lead to attainment of expected height. Pakistani data shows idiopathic short stature as the most common cause of short stature. Our study aimed at detecting causes of short stature in children/adolescents at an Endocrine referral center. Methods: A retrospective study was conducted at WILCARE Center for Diabetes, Endocrinology & Metabolism, Lahore on 70 well-nourished children/adolescents. The patients had been evaluated clinically, biochemically and radiologically as needed. Biochemical testing included hormonal testing as well to detect endocrine causes. Data was entered and analyzed in SPSS 20.0. Results: Leading cause of short stature in our population was Growth Hormone (GH) deficiency seen in 48 out of 70 (69%) patients. Second most common endocrine abnormality seen in these patients was Vitamin D deficiency [44 out of 70 patients (63%)]. Primary hypothyroidism; pan-hypopituitarism & adrenal insufficiency were other endocrine causes. The weight for age was below 3rd percentile in 57 (81%) patients, with no association with other major causes. Conclusion: Growth hormone and Vitamin D deficiency constitute one of the major causes of short stature among well-nourished children with short stature in Pakistan. PMID:28083018

  12. Determination of Serum Trace Elements (Zn, Cu, and Fe) in Pakistani Patients with Rheumatoid Arthritis.

    PubMed

    Ullah, Zia; Ullah, Muhammad Ikram; Hussain, Shabbir; Kaul, Haiba; Lone, Khalid P

    2017-01-01

    Rheumatoid arthritis (RA) is a chronic autoimmune inflammatory disease, which mainly involves the joints. RA is prevalent worldwide with increasing prevalence in elderly people. The mechanism of RA pathogenesis is still undefined, and it is interplaying between genetic susceptibility and environmental factors. Although risk factors for RA are not fully established, various studies have focused on the role of trace elements in association with RA. Trace elements act as co-factors for most of the enzymes, and their deficiency is associated with many untoward effects on human health. The homeostatic alterations in the metabolism of trace elements may partly be due to inflammatory response in RA. The objective of the present study was to determine the serum concentrations and correlation of zinc, copper, and iron in RA patients and healthy controls. The study comprised of 61 RA patients and 61 age- and sex-related healthy individuals of Pakistani population. Serum levels of Zn, Cu, and Fe were measured in all the participants by atomic absorption spectrophotometer. Serum Zn and Fe were significantly reduced in the RA patients than those in the healthy controls. Serum Cu concentrations were found elevated in the RA patients. Correlation studies of trace elements determine that there was negative correlation between Zn and Cu in the RA patients and no correlation in the control group. It is very important to explore the deficiency of essential trace metals in biological samples of the RA patients in different populations which may be helpful for diagnosis and supplementary management of rheumatoid arthritis patients.

  13. Pharmacokinetic differences of some generic tablet gliclazide 80 mg on Pakistani population.

    PubMed

    Obaid, Roohi; Ali, Obaid; Saify, Zafar Saied; Kamil, Noor; Khan, Masood Hameed; Ahmed, T; Ahmed, Syed Waseemuddin

    2004-01-01

    The goal of rational drug therapy is to produce a desired pharmacological response in an acceptable and predictable manner while minimizing the occurrence of undesired events. The Pharmacokinetics of different generics of tablet gliclazide 80 mg was investigated on healthy (10 x 2), Pakistani subjects. For this exploration an open-label, randomized, two-period crossover (Balanced in Complete Block Design) study, was conducted The out come of the said study suggests that all generics were found analogous regarding pharmacokinetic behavior in-spite of having different excipients, concentration of excipients, sources of raw material, manufacturing process, machinery, resources and also inter individual variation of the study. Results of the study also undoubtedly advocate that generics manufactured in different manufacturing units of Pakistan are near to the standard formulation and produce comparable results. No significant differences in pharmacokinetics parameters were observed, however, minor differences might narrate with inter individual variation in human volunteers and in different generic as well as different pharmaceutical unit.

  14. Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating.

    PubMed

    Tekin, Mustafa; Duman, Türker; Boğoçlu, Gönül; Incesulu, Armağan; Comak, Elif; Ilhan, Inci; Akar, Nejat

    2003-05-01

    Considerable differences exist for the spectrum of GJB2 mutations in different populations. Screening for the c.35delG mutation in 256 independent probands, 154 multiplex (familial) and 102 simplex (sporadic), coming from different regions of Turkey revealed 37 (14.5%) homozygotes. The allele frequency of c.35delG ranged from 5% to 53% in different cities. Parental consanguinity was noted in 34% of c.35delG homozygotes, yet it was 55% in c.35delG negatives (p=0.034). Further screening for GJB2 mutations in multiplex families demonstrated the presence of c.167delT and L90P mutations as well as a novel complex mutation, c.236_239delTGCAinsAGATCCG, in single alleles, leading to compound heterozygosity with c.35delG. The homozygous E120del mutation was found in another case. The V27I polymorphism was detected in five alleles, one of which was associated with the E114G change. Assortative mating was a significant factor predicting to detect biallelic mutations in the GJB2 gene. These results confirm the overwhelming majority of c.35delG in the Turkish deaf individuals as well as the presence of other changes detected in Caucasian and Asian populations.

  15. Remote Recession Sensing of Ablative Heat Shield Materials

    NASA Technical Reports Server (NTRS)

    Winter, Michael W.; Stackpoole, Margaret; Nawaz, Anuscheh; Gonzales, Gregory Lewis; Ho, Thanh

    2014-01-01

    Material recession and charring are two major processes determining the performance of ablative heat shield materials. Even in ground testing, the characterization of these two mechanisms relies on measurements of material thickness before and after testing, thus providing only information integrated over the test time. For recession measurements, optical methods such as imaging the sample surface during testing are under investigation but require high alignment and instrument effort, therefore being not established as a standard measurement method. For char depth measurements, the most common method so far consists in investigation of sectioned samples after testing or in the case of Stardust where core extractions were performed to determine char information. In flight, no reliable recession measurements are available, except total recession after recovering the heat shield on ground. Developments of mechanical recession sensors have been started but require substantial on board instrumentation adding mass and complexity. In this work, preliminary experiments to evaluate the feasibility of remote sensing of material recession and possibly char depth through optically observing the emission signatures of seeding materials in the post shock plasma is investigated. It is shown that this method can provide time resolved recession measurements without the necessity of accurate alignment procedures of the optical set-up and without any instrumentation on board of a spacecraft. Furthermore, recession data can be obtained without recovering flight hardware which would be a huge benefit for inexpensive heat shield material testing on board of small re-entry probes, e.g. on new micro-satellite re-entry probes as a possible future application of Cubesats or RBR

  16. Children's Physical Activity during Recess and Outside of School

    ERIC Educational Resources Information Center

    Beighle, Aaron; Morgan, Charles F.; Le Masurier, Guy; Pangrazi, Robert P.

    2006-01-01

    The purpose of this study was to examine children's physical activity during recess and outside of school. Third-, fourth-, and fifth-grade students (N = 270; 121 boys, age = 9.5 plus or minus 0.9 years; 150 girls, age = 9.6 plus or minus 0.9 years) wore sealed pedometers during a 15-minute recess period and outside of school for 4 consecutive…

  17. Gas insulated transmission line with insulators having field controlling recesses

    DOEpatents

    Cookson, Alan H.; Pederson, Bjorn O.

    1984-01-01

    A gas insulated transmission line having a novel insulator for supporting an inner conductor concentrically within an outer sheath. The insulator has a recess contiguous with the periphery of one of the outer and inner conductors. The recess is disposed to a depth equal to an optimum gap for the dielectric insulating fluid used for the high voltage insulation or alternately disposed to a large depth so as to reduce the field at the critical conductor/insulator interface.

  18. Breast cancer histology and receptor status characterization in Asian Indian and Pakistani women in the U.S. - a SEER analysis

    PubMed Central

    2010-01-01

    Background Recent reports suggest increase in estrogen receptor (ER), progesterone receptor (PR) negative breast cancer yet little is known about histology or receptor status of breast cancer in Indian/Pakistani women.in the U.S. Methods We examined the United States National Cancer Institute's Surveillance Epidemiology and End Results (SEER) Cancer program to assess: a) frequency of breast cancer by age, b) histologic subtypes, c) receptor status of breast cancer and, d) survival in Indians/Pakistanis compared to Caucasians. There were 360,933 breast cancer cases diagnosed 1988-2006. Chi-Square analyses and Cox proportional hazards models, to estimate relative risks for breast cancer mortality after adjusting for confounders, were performed using Statistical Analysis Software 9.2. Results Among Asian Indian/Pakistani breast cancer patients, 16.2% were < 40 yrs. old compared to 6.23% in Caucasians (p < 0.0001). Asian Indian women had more invasive ductal carcinoma (69.1 vs. 65.7%, p < 0.0001), inflammatory cancer (1.4% vs. 0.8, p < 0.0001) and less invasive lobular carcinoma (4.2% vs. 8.1%, p < 0.0001) than Caucasians. Asian Indian/Pakistani women had more ER/PR negative breast cancer (30.6% vs. 21.8%, p = 0.0095) than Caucasians. Adjusting for stage at diagnosis, age, tumor grade, nodal status, and histology, Asian Indian/Pakistani women's survival was similar to Caucasians, while African Americans' was worse. Conclusions Asian Indian/Pakistani women have higher frequency of breast cancer (particularly in age < 40), ER/PR negative invasive ductal and inflammatory cancer than Caucasians. PMID:20459777

  19. Gingival recession in postmenopausal women with and without osteoporosis

    PubMed Central

    DUNCEA, IOANA; POP, DAN; GEORGESCU, CARMEN

    2013-01-01

    Background The periodontal disease is a complex chronic progressive inflammatory and destructive process of the tooth attachment apparatus: gingiva, alveolar bone, desmodontium, cementum. Systemic osteoporosis has a potential influence on both the periodontal and gingival inflammation indices, on the gingival recession (GR) and teeth mobility. The aim of this study was to investigate the possible relationship between the menopause osteoporosis and gingival recession, by studying the correlations between osteoporosis and gingival recession, and between the bone mineral density (BMD) at the level of L1–L4, femur, hip, mandible and gum recession. Materials and methods The present study included a total of 97 postmenopausal patients. The diagnosis of osteoporosis was made based on the WHO definition. The results were expressed as absolute BMD values in g/cm2 and as T score form. We used dual x-ray absortiometry (DXA) measurements in assessing the lumbar column, proximal femur and mandible and we calculated the T scores. The gingival recession, which is an indicator of ligament tissue lysis and apical migration of the periodontal tissue, was measured as the distance between the anatomical tooth neck and the gumline. For the statistical analysis the Medcalc program version 12.3 was used. Results We found statistically significant differences between the two groups of women, with and without osteoporosis, in terms of the distribution of the cases of GR (p=0.003). The only parameter with statistical significance of the differences between the three categories of gingival recessions (absent, moderate, major), was p=0.034 for the femoral neck BMD. There were significant differences between the mean values of lumbar column L1–L4 BMD according to the presence or absence of recession signs. Conclusions 1) The prevalence of moderate and major gingival recession was statistically significantly higher in the group of postmenopausal women with osteoporosis. 2) In postmenopausal

  20. Recession curve analysis for groundwater levels: case study in Latvia

    NASA Astrophysics Data System (ADS)

    Gailuma, A.; VÄ«tola, I.; Abramenko, K.; Lauva, D.; Vircavs, V.; Veinbergs, A.; Dimanta, Z.

    2012-04-01

    Recession curve analysis is powerful and effective analysis technique in many research areas related with hydrogeology where observations have to be made, such as water filtration and absorption of moisture, irrigation and drainage, planning of hydroelectric power production and chemical leaching (elution of chemical substances) as well as in other areas. The analysis of the surface runoff hydrograph`s recession curves, which is performed to conceive the after-effects of interaction of precipitation and surface runoff, has approved in practice. The same method for analysis of hydrograph`s recession curves can be applied for the observations of the groundwater levels. There are manually prepared hydrograph for analysis of recession curves for observation wells (MG2, BG2 and AG1) in agricultural monitoring sites in Latvia. Within this study from the available monitoring data of groundwater levels were extracted data of declining periods, splitted by month. The drop-down curves were manually (by changing the date) moved together, until to find the best match, thereby obtaining monthly drop-down curves, representing each month separately. Monthly curves were combined and manually joined, for obtaining characterizing drop-down curves of the year for each well. Within the process of decreased recession curve analysis, from the initial curve was cut out upward areas, leaving only the drops of the curve, consequently, the curve is transformed more closely to the groundwater flow, trying to take out the impact of rain or drought periods from the curve. Respectively, the drop-down curve is part of the data, collected with hydrograph, where data with the discharge dominates, without considering impact of precipitation. Using the recession curve analysis theory, ready tool "A Visual Basic Spreadsheet Macro for Recession Curve Analysis" was used for selection of data and logarithmic functions matching (K. Posavec et.al., GROUND WATER 44, no. 5: 764-767, 2006), as well as

  1. Management of the Spring Snowmelt Recession in Regulated Systems

    NASA Astrophysics Data System (ADS)

    Yarnell, S. M.; Lind, A.; Epke, G.; Viers, J. H.

    2013-12-01

    In unregulated rivers in the Sierra Nevada mountains of California, the spring snowmelt recession links high winter flows to low summer baseflow and is a consistent and predictable portion of the annual hydrograph. Consequently, it is an important resource to both riverine ecosystems and California's water supply. In regulated river systems where the spring snowmelt recession is often captured behind dams or diverted for hydropower, restoration of a more natural spring flow regime can provide distinct ecological benefits, such as breeding and migration cues for native species, increased habitat availability, and greater hydraulic habitat diversity. However, knowledge of how to create and manage an ecologically beneficial spring snowmelt recession in a regulated river system has been lacking. This study defined a methodology by which spring flow regimes can be modeled in regulated systems from the quantifiable characteristics of spring snowmelt recessions in unregulated rivers. Using fundamental flow components such as magnitude, timing, and rate of change, the spring snowmelt recession in eight unregulated rivers across the Sierra Nevada range was quantified to gain a better understanding of the predictability and variability across watersheds. The analysis found that unregulated Sierran systems behaved similarly with respect to seasonal patterns and flow recession shape (i.e., recession limb curvature), and thus flows could be modeled in a manner that mimics those predictable characteristics. Using this methodology that quantifies spring recession flows in terms of a daily percent decrease in flow, a series of flow recession scenarios were then created for application on a regulated Sierran river. Four scenarios, ranging from a slow natural recession to a short fast recession typically observed in regulated rivers following cessation of high flow spills, were evaluated within a 2D hydrodynamic model. The effects of the flows on suitable habitat for Foothill yellow

  2. Precarious Slopes? The Great Recession, Federal Stimulus, and New Jersey Schools. Working Paper #02-12

    ERIC Educational Resources Information Center

    Chakrabarti, Rajashri; Sutherland, Sarah

    2012-01-01

    While sparse literature exists investigating the impact of the Great Recession on various sectors of the economy, there is virtually no research that studies the effect of the Great Recession, or past recessions, on schools. This paper starts to fill the void. Studying school funding during the recession is of paramount importance because schools…

  3. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

    PubMed

    Abou Jamra, Rami; Philippe, Orianne; Raas-Rothschild, Annick; Eck, Sebastian H; Graf, Elisabeth; Buchert, Rebecca; Borck, Guntram; Ekici, Arif; Brockschmidt, Felix F; Nöthen, Markus M; Munnich, Arnold; Strom, Tim M; Reis, Andre; Colleaux, Laurence

    2011-06-10

    Intellectual disability inherited in an autosomal-recessive fashion represents an important fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these conditions markedly hampers gene identification. Here, we report on eight affected individuals who were from three consanguineous families and presented with severe intellectual disability, absent speech, shy character, stereotypic laughter, muscular hypotonia that progressed to spastic paraplegia, microcephaly, foot deformity, decreased muscle mass of the lower limbs, inability to walk, and growth retardation. Using a combination of autozygosity mapping and either Sanger sequencing of candidate genes or next-generation exome sequencing, we identified one mutation in each of three genes encoding adaptor protein complex 4 (AP4) subunits: a nonsense mutation in AP4S1 (NM_007077.3: c.124C>T, p.Arg42(∗)), a frameshift mutation in AP4B1 (NM_006594.2: c.487_488insTAT, p.Glu163_Ser739delinsVal), and a splice mutation in AP4E1 (NM_007347.3: c.542+1_542+4delGTAA, r.421_542del, p.Glu181Glyfs(∗)20). Adaptor protein complexes (AP1-4) are ubiquitously expressed, evolutionarily conserved heterotetrameric complexes that mediate different types of vesicle formation and the selection of cargo molecules for inclusion into these vesicles. Interestingly, two mutations affecting AP4M1 and AP4E1 have recently been found to cause cerebral palsy associated with severe intellectual disability. Combined with previous observations, these results support the hypothesis that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning and demonstrate the existence of a clinically recognizable syndrome due to deficiency of the AP4 complex.

  4. Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

    PubMed Central

    Hansen, Lars; Tawamie, Hasan; Murakami, Yoshiko; Mang, Yuan; ur Rehman, Shoaib; Buchert, Rebecca; Schaffer, Stefanie; Muhammad, Safia; Bak, Mads; Nöthen, Markus M.; Bennett, Eric P.; Maeda, Yusuke; Aigner, Michael; Reis, André; Kinoshita, Taroh; Tommerup, Niels; Baig, Shahid Mahmood; Abou Jamra, Rami

    2013-01-01

    PGAP2 encodes a protein involved in remodeling the glycosylphosphatidylinositol (GPI) anchor in the Golgi apparatus. After synthesis in the endoplasmic reticulum (ER), GPI anchors are transferred to the proteins and are remodeled while transported through the Golgi to the cell membrane. Germline mutations in six genes (PIGA, PIGL, PIGM, PIGV, PIGN, and PIGO) in the ER-located part of the GPI-anchor-biosynthesis pathway have been reported, and all are associated with phenotypes extending from malformation and lethality to severe intellectual disability, epilepsy, minor dysmorphisms, and elevated alkaline phosphatase (ALP). We performed autozygosity mapping and ultra-deep sequencing followed by stringent filtering and identified two homozygous PGAP2 alterations, p.Tyr99Cys and p.Arg177Pro, in seven offspring with nonspecific autosomal-recessive intellectual disability from two consanguineous families. Rescue experiments with the altered proteins in PGAP2-deficient Chinese hamster ovary cell lines showed less expression of cell-surface GPI-anchored proteins DAF and CD59 than of the wild-type protein, substantiating the pathogenicity of the identified alterations. Furthermore, we observed a full rescue when we used strong promoters before the mutant cDNAs, suggesting a hypomorphic effect of the mutations. We report on alterations in the Golgi-located part of the GPI-anchor-biosynthesis pathway and extend the phenotypic spectrum of the GPI-anchor deficiencies to isolated intellectual disability with elevated ALP. GPI-anchor deficiencies can be interpreted within the concept of a disease family, and we propose that the severity of the phenotype is dependent on the location of the altered protein in the biosynthesis chain. PMID:23561846

  5. A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate

    PubMed Central

    Yamazaki, Kiyohiro; Yoshino, Yuta; Mori, Yoko; Ochi, Shinichiro; Yoshida, Taku; Ishimaru, Takashi; Ueno, Shu-ichi

    2015-01-01

    Nasu-Hakola disease (NHD) is a rare autosomal recessive neuropsychiatric disorder characterized by bone cysts, fractures, and cognitive impairment. Two genes are responsible for the development of NHD; TYROBP and TREM2. Although it presents with typical signs and symptoms, diagnosing this disease remains difficult. This case report describes a male with NHD with no family or past history of bone fractures who was diagnosed using exome sequencing. His frontal lobe psychiatric symptoms recovered partially following treatment with sodium valproate, but not with an antipsychotic. PMID:26598595

  6. Perceived Stress, Sources and Severity of Stress among medical undergraduates in a Pakistani Medical School

    PubMed Central

    2010-01-01

    Background Recently there is a growing concern about stress during undergraduate medical training. However, studies about the same are lacking from Pakistani medical schools. The objectives of our study were to assess perceived stress, sources of stress and their severity and to assess the determinants of stressed cases. Methods A cross-sectional, questionnaire-based survey was carried out among undergraduate medical students of CMH Lahore Medical College, Pakistan during January to March 2009. Perceived stress was assessed using the perceived stress scale. A 33-item questionnaire was used to assess sources of stress and their severity. Results The overall response rate was 80.5% (161 out of 200 students). The overall mean perceived stress was 30.84 (SD = 7.01) and was significantly higher among female students. By logistic regression analysis, stressed cases were associated with occurrence of psychosocial (OR 5.01, 95% CI 2.44-10.29) and academic related stressors (OR 3.17 95% CI 1.52-6.68). The most common sources of stress were related to academic and psychosocial concerns. 'High parental expectations', 'frequency of examinations', 'vastness of academic curriculum', 'sleeping difficulties', 'worrying about the future', 'loneliness', 'becoming a doctor', 'performance in periodic examinations' were the most frequently and severely occurring sources of stress. There was a negative but insignificant correlation between perceived stress and academic performance (r = -0.099, p > 0.05). Conclusion A higher level of perceived stress was reported by the students. The main stressors were related to academic and psychosocial domains. Further studies are required to test the association between stressed cases and gender, academic stressors and psychosocial stressors. PMID:20078853

  7. Is social exclusion pushing the Pakistani Hijras (Transgenders) towards commercial sex work? a qualitative study

    PubMed Central

    2012-01-01

    Background The Hijra is a distinct type of gender role in South Asia where men act like women. This group of people is socially excluded by the general community, in terms of attainment of an opportunity for a socially productive life. Often this sort of deprivation forces these individuals towards professions like sex trade, in pursuit of sustenance, which as a consequence places them as a key block in the puzzle of an impending generalized HIV epidemic in Pakistan. Methods This study is a qualitative study, which involved 8 in-depth interviews and four focus group discussions, conducted in Rawalpindi and Islamabad (Pakistan) from February to April 2012. The data was audio taped and transcribed. Key themes were identified and built upon. The respondents were contacted through a gate keeper Hijra who was a member of the hijra community. Multiple interview sessions were conducted with each respondent. Results Two key categories of the Hijras were identified as Khusrapan and Zananapan, during the in-depth interview sessions. This initial information paved way for the four focus group discussions. The data was presented using key themes which were identified. The study participants explained their life histories to us which made it obvious that they had been socially excluded at many stages of their lives from performing normal social functions. This lack of occupational and educational opportunities pushed them towards entering the risky business of selling sex. Conclusion The transgender community is socially excluded by the Pakistani society which is leading them to indulge in commercial sex and putting their lives at risk. Prudent measures are needed to form community based organizations managed and led by hijra community and addressing their social exclusion and risky behaviors. PMID:23163979

  8. Detecting depression in pregnancy: validation of EPDS in British Pakistani mothers.

    PubMed

    Husain, Nusrat; Rahman, Atif; Husain, Meher; Khan, Sarah Marium; Vyas, Avni; Tomenson, Barbara; Cruickshank, Kennedy J

    2014-12-01

    Recent reports suggest that antenatal depression is as prevalent as postnatal depression. The Edinburgh Postnatal Depression Scale (EPDS) is the most widely used tool to detect postnatal depression, which can also detect depression during the antenatal period. Mothers of Pakistani origin have the highest birth rate in the UK. The validity of EPDS has not been assessed in this group. A prospective cohort of 714 women in their third trimester of pregnancy completed the EPDS while waiting for their antenatal visit. Women scoring 12 or more on the EPDS, and a random sample of low scores were assessed with the Schedule for Clinical Assessment in Neuropsychiatry to establish psychiatric diagnosis. A cut-off point of 8 showed the best discrimination with sensitivity = 89.6% and specificity 54.7%. Positive predictive value was 29.4 and negative predictive value was 96.2. The area under the curve (AUC) was 0.72 (0.66-0.78). When language is taken into account the area under the ROC curve for subjects who preferred the Urdu or Punjabi language is slightly higher at 0.79 than those who preferred English (0.61). We have not been able to find a single clear cut-off is a result of the AUCs not being particularly large, and confirms that the EPDS should only be used as a screen and not for diagnostic purposes. The larger AUC for the Urdu/Punjabi speakers than for the English speakers suggests that the EPDS is as good a screen for this group as for the indigenous English population.

  9. Facial soft tissue thickness among various vertical facial patterns in adult Pakistani subjects.

    PubMed

    Jeelani, Waqar; Fida, Mubassar; Shaikh, Attiya

    2015-12-01

    Facial reconstruction techniques are used to obtain an approximation of an individual's appearance thus helping identification of unidentified decedents from their dried skeletal remains. Many of these techniques rely on the sets of average facial soft tissue thickness (FST) values at different anatomical landmarks provided by the previous studies. FST is influenced by the age, sex, ethnicity and the body mass index of the individual. Recent literature has shown that the anthropological variations of the skull may also affect FST at certain points. This study was designed to evaluate the effect of such variations in vertical skull morphology on FST as around one third of different population groups have either a long or short facial pattern as compared to the average facial pattern. Moreover, this study also provides a FST database for the adult Pakistani subjects that may have potential implications in the facial reconstruction of the local subjects. A retrospective analysis of 276 lateral cephalograms of adult subjects having normal sagittal facial pattern was performed. Subjects were categorized into three vertical facial patterns (long face=95, average face=102, short face=79) according to the vertical dimensions of the skull and the FST was measured at 11 midline points. To compare the FST between males and females Mann-Whitney U test was used. Kruskal-Wallis test was applied to compare FST among three vertical facial patterns. The results of our study revealed significant differences in FST at nine landmarks between males and females. These sex-based differences were more pronounced in the long and short facial patterns as compared to the average facial pattern. FST at stomion, pogonion, gnathion and menton was significantly greater in the short facial pattern as compared to the long facial pattern in both the sexes. The results of the present study highlight the importance of anthropological analysis of the skull and taking the vertical skeletal dimension

  10. The Great Recession, somatic symptomatology and alcohol use and abuse.

    PubMed

    Vijayasiri, Ganga; Richman, Judith A; Rospenda, Kathleen M

    2012-09-01

    While most research has examined the long-term effects of alcohol consumption on health, the current study examines how health status impacts on drinking behavior. Using data from a national study conducted between 2010 and 2011 to assess the impact of the recession on drinking behavior, this study examines how economic hardships linked to the recent economic recession affect physical health, and how physical health may in turn affect alcohol use. Structural equation models were used to test the predicted associations. The data demonstrate that many of the economic stressors linked to the recession are associated with increased somatic symptoms. Somatic symptoms are also associated with increased drinking for men, but not for women. These findings suggest that men may use alcohol to self medicate somatic symptomatology. The current findings are consistent with gender role-based explanations that account for gender disparities in the utilization of medical care.

  11. The Great Recession and the risk for child maltreatment.

    PubMed

    Brooks-Gunn, Jeanne; Schneider, William; Waldfogel, Jane

    2013-10-01

    This study draws on the Fragile Families and Child Wellbeing Study (N=2,032), a birth cohort study of families with children from 20 U.S. cities. Interviews occurred between August 2007, and February 2010, when the children were approximately 9 years old. Macro-economic indicators of the Great Recession such as the Consumer Sentiment Index and unemployment and home foreclosure rates were matched to the data to estimate the links between different measures of the Great Recession and high frequency maternal spanking. We find that the large decline in consumer confidence during the Great Recession, as measured by the Consumer Sentiment Index, was associated with worse parenting behavior. In particular, lower levels of consumer confidence were associated with increased levels of high frequency spanking, a parenting behavior that is associated with greater likelihood of being contacted by child protective services.

  12. The Great Recession and the Risk for Child Maltreatment

    PubMed Central

    Brooks-Gunn, Jeanne; Schneider, William; Waldfogel, Jane

    2013-01-01

    This study draws on the Fragile Families and Child Wellbeing Study (N = 2,032), a birth cohort study of families with children from 20 U.S. cities. Interviews occurred between August 2007, and February 2010, when the children were approximately 9 years old. Macro-economic indicators of the Great Recession such as the Consumer Sentiment Index and unemployment and home foreclosure rates were matched to the data to estimate the links between different measures of the Great Recession and high frequency maternal spanking. We find that the large decline in consumer confidence during the Great Recession, as measured by the Consumer Sentiment Index, was associated with worse parenting behavior. In particular, lower levels of consumer confidence were associated with increased levels of high frequency spanking, a parenting behavior that is associated with greater likelihood of being contacted by child protective services. PMID:24045057

  13. The Great Recession, Somatic Symptomatology and Alcohol Use and Abuse

    PubMed Central

    Vijayasiri, Ganga; Richman, Judith A.; Rospenda, Kathleen M.

    2012-01-01

    While most research has examined the long-term effects of alcohol consumption on health, the current study examines how health status impacts on drinking behavior. Using data from a national study conducted between 2010 and 2011 to assess the impact of the recession on drinking behavior, this study examines how economic hardships linked to the recent economic recession affect physical health, and how physical health may in turn affect alcohol use. Structural equation models were used to test the predicted associations. The data demonstrate that many of the economic stressors linked to the recession are associated with increased somatic symptoms. Somatic symptoms are also associated with increased drinking for men, but not for women. These findings suggest that men may use alcohol to self medicate somatic symptomatology. The current findings are consistent with gender role-based explanations that account for gender disparities in the utilization of medical care. PMID:22632797

  14. Cooperative Monitoring Center Occasional Paper/6: Pakistani Perceptions and Prospects of Reducing the Nuclear Danger in South Asia

    SciTech Connect

    Kamal, N.

    1999-01-01

    The Indian and Pakistani nuclear tests in May 1998 triggered a full-blown nuclear debate. For the first time, hard-liners, moderates, and pacifists engaged in an extensive public discussion that helped to make the people of Pakistan more sensitive to the dangers of nuclear competition. Pakistan's concerns about its conventional military inferiority, both in the present and future, and the belief that nuclear capability would deter India from exerting its superior military strength, constituted the bedrock of its perception on the nuclear issue. Ofilcial Pakistani statements, both immediately after the nuclear tests and later, have advocated restraint on the issue of nuclearization, indicating cognizance of the importance of avoiding a regional nuclear arms competition, both for security and economic reasons. This paper suggests a variety of nonweaponization and nondeployment options that would serve the security interests of India and Pakistan. Besides preventing a hair-trigger situation, these options could reduce the financial and logistical burden of ensuring the safety and security of nuclear weapons as well as lower strategic threat-perceptions.

  15. Dietary education must fit into everyday life: a qualitative study of people with a Pakistani background and type 2 diabetes

    PubMed Central

    Hempler, Nana F; Nicic, Sara; Ewers, Bettina; Willaing, Ingrid

    2015-01-01

    Background The high prevalence of diabetes among South Asian populations in European countries partially derives from unhealthy changes in dietary patterns. Limited studies address perspectives of South Asian populations with respect to utility of diabetes education in everyday life. This study explores perspectives on dietary diabetes education and healthy food choices of people living in Denmark who have a Pakistani background and type 2 diabetes. Methods In-depth interviews were conducted between October 2012 and December 2013 with 12 participants with type 2 diabetes who had received dietary diabetes education. Data analysis was systematic and was based on grounded theory principles. Results Participants described the process of integrating and utilizing dietary education in everyday life as challenging. Perceived barriers of the integration and utilization included a lack of a connection between the content of the education and life conditions, a lack of support from their social networks for dietary change, difficulty integrating the education into everyday life, and failure to include the participants’ taste preferences in the educational setting. Conclusion Dietary education that is sensitive to the attitudes, wishes, and preferences of the participants and that aims at establishing a connection to the everyday life of the participants might facilitate successful changes in dietary practices among people with a Pakistani background and type 2 diabetes. The findings suggest that more focus should be placed on collaborative processes in the dietary educational setting in order to achieve appropriate education and to improve communication between this population and health care professionals. PMID:25750523

  16. Association of the MTHFR C677T (rs1801133) polymorphism with idiopathic male infertility in a local Pakistani population

    PubMed Central

    Ismail, M; Azhar Beg, M; Shabbir, A; Rashid Kayani, A; Kaukab Raja, G

    2016-01-01

    Abstract The present study determined an association between idiopathic sperm disorders in a local Pakistani infertile male population and the MTHFR C677T polymorphism. After ruling out non genetic factors, a total of 437 idiopathic infertile men including 57 azoospermic, 66 oligospermic, 44 asthenozoospermic, 29 teratozoospermic, 20 oligoasthenospermic and 221 infertile normospermic men were recruited. Furthermore, 218 normospermic fertile men, who had two children (or more) were included as controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to determine MTHFR C677T (rs1801133) polymorphism. A significant association of the minor MTHFR 677T allele with male infertility was observed (p <0.05). In addition, men with MTHFR 677 CT and TT genotypes were at a greater risk [odds ratio (OR): 1.81, 95% confidence interval (95% CI): 1.17-2.80, p = 0.008 and OR: 9.24, 95% CI: 1.20-70.92, p = 0.032, respectively] of infertility. All the subgroups of male infertility (azoospermic, oligospermic, asthenospermic, oligoasthenoteratospermic (OAT) and normospermic infertile) had significantly (p <0.05) higher frequencies of CT and TT genotypes when compared to fertile men. The combined genotypes (CT + TT) were also found significantly (OR: 2.01, 95% CI: 1.31-3.08, p <0.001) associated with male infertility. The results suggest that the polymorphism might be a factor of male infertility in the Pakistani population. PMID:27785408

  17. Unilateral Autosomal Recessive Anophthalmia in a Patient with Cystic Craniopharyngioma

    PubMed Central

    Kumar, Amandeep; Bansal, Ankit; Garg, Ajay; Sharma, Bhawani S.

    2014-01-01

    Abstract Anophthalmia is a rare ocular malformation. It is a genetically determined disorder and is typically associated with syndromes. However, sporadic nonsyndromic familial as well as non-familial cases of anophthalmia have also been reported. Non-syndromic familial cases are usually bilateral and have been attributed to autosomal recessive, autosomal dominant, and X-linked inheritance patterns. The authors hereby report a rare case of autosomal recessive unilateral anophthalmia in a patient with no other associated congenital anomaly. Patient was operated for craniopharyngioma. The clinical, radiological and intraoperative findings are discussed. PMID:27928292

  18. Endoscopic gastrocnemius recession for the treatment of gastrocnemius equinus.

    PubMed

    DiDomenico, Lawrence A; Adams, Heiko B; Garchar, David

    2005-01-01

    A prospective analysis was conducted of the amount of correction obtained and number of complications resulting from 31 endoscopic gastrocnemius recessions in 28 patients. The average amount of increase in ankle dorsiflexion was 18 degrees. Few complications were encountered, with mild "soreness" and distal "bruising" being reported by four patients. The only other complaint was "weakness." The endoscopic gastrocnemius recession is a minimally invasive technique with a low rate of complications that offers a comparable amount of correction to that of traditional open procedures in the treatment of gastrocnemius equinus.

  19. Drinking in the age of the Great Recession.

    PubMed

    Richman, Judith A; Rospenda, Kathleen M; Johnson, Timothy P; Cho, Young Ilk; Vijayasira, Ganga; Cloninger, Lea; Wolff, Jennifer M

    2012-01-01

    The United States has been experiencing the most severe economic crisis since the Great Depression. This article presents the Life Change Consequences of the Great Recession (LCCGR), an instrument depicting work and personal life-related stressors reflecting the enduring effects of the Great Recession. A national sample of 663 respondents completed a mail survey including this instrument and measures of drinking outcomes. Multiple regression analyses addressed the links between the LCCGR and drinking. Economy-related stressors manifested significant effects on both male and female consumptions patterns, but most LCCGR subscales were more clearly related to problematic drinking patterns in men compared with women.

  20. Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.

    PubMed

    Cabral, Rita M; Kurban, Mazen; Wajid, Muhammad; Shimomura, Yutaka; Petukhova, Lynn; Christiano, Angela M

    2012-04-01

    Generalized peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by lifelong, continuous shedding of the upper epidermis. Using whole-genome homozygozity mapping and whole-exome sequencing, we identified a novel homozygous missense mutation (c.229C>T, R77W) within the CHST8 gene, in a large consanguineous family with non-inflammatory PSS type A. CHST8 encodes a Golgi transmembrane N-acetylgalactosamine-4-O-sulfotransferase (GalNAc4-ST1), which we show by immunofluorescence staining to be expressed throughout normal epidermis. A colorimetric assay for total sulfated glycosaminoglycan (GAG) quantification, comparing human keratinocytes (CCD1106 KERTr) expressing wild type and mutant recombinant GalNAc4-ST1, revealed decreased levels of total sulfated GAGs in cells expressing mutant GalNAc4-ST1, suggesting loss of function. Western blotting revealed lower expression levels of mutant recombinant GalNAc4-ST1 compared to wild type, suggesting that accelerated degradation may result in loss of function, leading to PSS type A. This is the first report describing a mutation as the cause of PSS type A.

  1. Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

    PubMed

    Delmaghani, Sedigheh; Aghaie, Asadollah; Bouyacoub, Yosra; El Hachmi, Hala; Bonnet, Crystel; Riahi, Zied; Chardenoux, Sebastien; Perfettini, Isabelle; Hardelin, Jean-Pierre; Houmeida, Ahmed; Herbomel, Philippe; Petit, Christine

    2016-06-02

    By genetic linkage analysis in a large consanguineous Iranian family with eleven individuals affected by severe to profound congenital deafness, we were able to define a 2.8 Mb critical interval (at chromosome 1p21.2-1p21.1) for an autosomal-recessive nonsyndromic deafness locus (DFNB). Whole-exome sequencing allowed us to identify a CDC14A biallelic nonsense mutation, c.1126C>T (p.Arg376(∗)), which was present in the eight clinically affected individuals still alive. Subsequent screening of 115 unrelated individuals affected by severe or profound congenital deafness of unknown genetic cause led us to identify another CDC14A biallelic nonsense mutation, c.1015C>T (p.Arg339(∗)), in an individual originating from Mauritania. CDC14A encodes a protein tyrosine phosphatase. Immunofluorescence analysis of the protein distribution in the mouse inner ear showed a strong labeling of the hair cells' kinocilia. By using a morpholino strategy to knockdown cdc14a in zebrafish larvae, we found that the length of the kinocilia was reduced in inner-ear hair cells. Therefore, deafness caused by loss-of-function mutations in CDC14A probably arises from a morphogenetic defect of the auditory sensory cells' hair bundles, whose differentiation critically depends on the proper growth of their kinocilium.

  2. Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).

    PubMed

    Hu, Hao; Hübner, Christoph; Lukacs, Zoltan; Musante, Luciana; Gill, Esther; Wienker, Thomas F; Ropers, Hans-Hilger; Knierim, Ellen; Schuelke, Markus

    2017-02-01

    Klüver-Bucy syndrome (KBS) comprises a set of neurobehavioral symptoms with psychic blindness, hypersexuality, disinhibition, hyperorality, and hypermetamorphosis that were originally observed after bilateral lobectomy in Rhesus monkeys. We investigated two siblings with KBS from a consanguineous family by whole-exome sequencing and autozygosity mapping. We detected a homozygous variant in the heparan-α-glucosaminidase-N-acetyltransferase gene (HGSNAT; c.518G>A, p.(G173D), NCBI ClinVar RCV000239404.1), which segregated with the phenotype. Disease-causing variants in this gene are known to be associated with autosomal recessive Mucopolysaccharidosis type IIIC (MPSIIIC, Sanfilippo C). This lysosomal storage disease is due to deficiency of the acetyl-CoA:α-glucosaminidase-N-acetyltransferase, which was shown to be reduced in patient fibroblasts. Our report extends the phenotype associated with MPSIIIC. Besides MPSIIIA and MPSIIIB, due to variants in SGSH and NAGLU, this is the third subtype of Sanfilippo disease to be associated with KBS. MPSIII should be included in the differential diagnosis of young patients with KBS.

  3. The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family

    PubMed Central

    Hilhorst-Hofstee, Yvonne; Rijlaarsdam, Marry EB; Scholte, Arthur JHA; Swart-van den Berg, Marietta; Versteegh, Michel IM; van der Schoot-van Velzen, Iris; Schäbitz, Hans-Joachim; Bijlsma, Emilia K; Baars, Marieke J; Kerstjens-Frederikse, Wilhelmina S; Giltay, Jacques C; Hamel, Ben C; Breuning, Martijn H; Pals, Gerard

    2010-01-01

    Marfan syndrome (MFS) is a dominant disorder with a recognizable phenotype. In most patients with the classical phenotype mutations are found in the fibrillin-1 gene (FBN1) on chromosome 15q21. It is thought that most mutations act in a dominant negative way or through haploinsufficiency. In 9 index cases referred for MFS we detected heterozygous missense mutations in FBN1 predicted to substitute the first aspartic acid of different calcium-binding Epidermal Growth Factor-like (cbEGF) fibrillin-1 domains. A similar mutation was found in homozygous state in 3 cases in a large consanguineous family. Heterozygous carriers of this mutation had no major skeletal, cardiovascular or ophthalmological features of MFS. In the literature 14 other heterozygous missense mutations are described leading to the substitution of the first aspartic acid of a cbEGF domain and resulting in a Marfan phenotype. Our data show that the phenotypic effect of aspartic acid substitutions in the first position of a cbEGF domain can range from asymptomatic to a severe neonatal phenotype. The recessive nature with reduced expression of FBN1 in one of the families suggests a threshold model combined with a mild functional defect of this specific mutation. © 2010 Wiley-Liss, Inc. PMID:20886638

  4. Parenting and Infant Temperament amongst Pakistani Women Living in the UK According to Country of Birth: Results from the Born in Bradford Cohort Study

    ERIC Educational Resources Information Center

    Prady, Stephanie L.; Kiernan, Kathleen; Fairley, Lesley; Wright, John

    2013-01-01

    Some parenting behaviours and child characteristics can result in future behavioural problems. Relatively little is known about parenting behaviours in Pakistani-origin women, and how the timing of migration to the United Kingdom might affect such behaviours. We analysed differences in parenting behaviours and six-month infant temperament by…

  5. Mother Tongue Learning: A Study of the Learning Needs of the Pakistani, Indian and Bangladeshi Communities in Edinburgh. Occasional Papers Series No. 5.

    ERIC Educational Resources Information Center

    Jiwa, Shainool

    Collectively, Pakistanis, Indians, and Bangladeshis form the largest ethnic minority group (4,129) in Edinburgh, Scotland (43% according to 1991 Census figures). Current local provision of education for adult members of the three communities was reviewed. Needs and preferences in terms of educational content, approach, and location were identified…

  6. Use of smokeless tobacco among groups of Pakistani medical students – a cross sectional study

    PubMed Central

    Imam, Sardar Z; Nawaz, Haq; Sepah, Yasir J; Pabaney, Aqueel H; Ilyas, Mahwish; Ghaffar, Shehzad

    2007-01-01

    Background Use of smokeless tobacco is common in South Asia. Tobacco is a major preventable cause of morbidity and mortality. Doctors make one of the best avenues to influence patients' tobacco use. However, medical students addicted to tobacco are likely to retain this habit as physicians and are unlikely to counsel patients against using tobacco. With this background, this study was conducted with the objective of determining the prevalence of smokeless tobacco among Pakistani medical students. Methods A cross sectional study was carried out in three medical colleges of Pakistan – one from the north and two from the southern region. 1025 students selected by convenient sampling completed a peer reviewed, pre-tested, self-administered questionnaire. Questions were asked regarding lifetime use (at least once or twice in their life), current use (at least once is the last 30 days), and established use (more than 100 times in their life) of smokeless tobacco. Chi square and logistic regression analyses were used. Results Two hundred and twenty (21.5%) students had used tobacco in some form (smoked or smokeless) in their lifetime. Sixty six (6.4%) students were lifetime users of smokeless tobacco. Thirteen (1.3%) were daily users while 18 (1.8%) fulfilled the criterion for established users. Niswar was the most commonly used form of smokeless tobacco followed by paan and nass. Most naswar users belonged to NWFP while most paan users studied in Karachi. On univariate analysis, lifetime use of smokeless tobacco showed significant associations with the use of cigarettes, student gender (M > F), student residence (boarders > day scholars) and location of the College (NWFP > Karachi). Multivariate analysis showed independent association of lifetime use of smokeless tobacco with concomitant cigarette smoking, student gender and location of the medical college. Conclusion The use of smokeless tobacco among medical students cannot be ignored. The governments should add the

  7. Health Impacts of the Great Recession: A Critical Review

    PubMed Central

    Goldman-Mellor, Sidra; Falconi, April; Downing, Janelle

    2016-01-01

    The severity, sudden onset, and multipronged nature of the Great Recession (2007–2009) provided a unique opportunity to examine the health impacts of macroeconomic downturn. We comprehensively review empirical literature examining the relationship between the Recession and mental and physical health outcomes in developed nations. Overall, studies reported detrimental impacts of the Recession on health, particularly mental health. Macro- and individual-level employment- and housing-related sequelae of the Recession were associated with declining fertility and self-rated health, and increasing morbidity, psychological distress, and suicide, although traffic fatalities and population-level alcohol consumption declined. Health impacts were stronger among men and racial/ethnic minorities. Importantly, strong social safety nets in some European countries appear to have buffered those populations from negative health effects. This literature, however, still faces multiple methodological challenges, and more time may be needed to observe the Recession’s full health impact. We conclude with suggestions for future work in this field. PMID:27239427

  8. Hard Times. The Recession Imperils School Reforms and Teachers' Jobs.

    ERIC Educational Resources Information Center

    Harp, Lonnie

    1991-01-01

    The current recession in the United States imperils teachers' jobs and school reform. States are prioritizing increased spending in such areas as health care and transportation rather than educational improvement. The article discusses specific educational hard times in several states and counties. (SM)

  9. Applications to One Business School Skyrocketed Despite Recession

    ERIC Educational Resources Information Center

    Tao, Sharon

    2010-01-01

    In the past two years, the global financial crisis has wreaked havoc on businesses in America and abroad. But the gloom and doom seems to have had the opposite effect on business schools. The reason is that a recession often signals the perfect time for proactive students to sharpen their skill sets, shift their career goals (whether toward a…

  10. College Costs, Prices and the Great Recession. Lumina Issue Papers

    ERIC Educational Resources Information Center

    Johnson, Nate

    2014-01-01

    As states and families begin to recover from the effects of the Great Recession, some of the urgency about college affordability may start to ease. The most recent "Trends in College Pricing" report shows tuition rising more slowly than in recent years (Baum and Ma 2013). Growth in Pell grant applications is also expected to slow as…

  11. Young School Children's Recess Physical Activity: Movement Patterns and Preferences

    ERIC Educational Resources Information Center

    Woods, Amelia M.; Graber, Kim C.; Daum, David N.; Gentry, Chris

    2015-01-01

    This study examined physical activity (PA) variables related to recess PA patterns of kindergarten, first and second grade children, and the social preferences and individuals influencing their PA. Data collected (N = 147) used the System of Observing Children's Activity and Relationships during Play (SOCARP) instrument. Children were interviewed.…

  12. 12. VIEW WEST, AREA SOUTH OF RECESS AREA, SHOWING CUT ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    12. VIEW WEST, AREA SOUTH OF RECESS AREA, SHOWING CUT STONE AND RUBBLESTONE CONSTRUCTION - Bald Eagle Cross-Cut Canal Lock, North of Water Street along West Branch of Susquehanna River South bank, 500 feet East of Jay Street Bridge, Lock Haven, Clinton County, PA

  13. 10. VIEW EAST, RECESS AREA WITH BOTTOM HORIZONTAL BEAM FOR ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    10. VIEW EAST, RECESS AREA WITH BOTTOM HORIZONTAL BEAM FOR EAST GATE - Bald Eagle Cross-Cut Canal Lock, North of Water Street along West Branch of Susquehanna River South bank, 500 feet East of Jay Street Bridge, Lock Haven, Clinton County, PA

  14. 11. VIEW WEST, RECESS AREA WITH PORTION OF MITER SILL ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    11. VIEW WEST, RECESS AREA WITH PORTION OF MITER SILL (Numbers painted on stones for reconstruction purposes) - Bald Eagle Cross-Cut Canal Lock, North of Water Street along West Branch of Susquehanna River South bank, 500 feet East of Jay Street Bridge, Lock Haven, Clinton County, PA

  15. 3. EXTERIOR OF FRONT ENTRY SHOWING GABLE OVER RECESSED PORCH ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    3. EXTERIOR OF FRONT ENTRY SHOWING GABLE OVER RECESSED PORCH WITH RUSTIC STYLE DECORATIVE TREATMENT. WELDED STEEL PORCH RAILING ADDED IN 1972 IS VISIBLE AT PHOTO CENTER. VIEW TO SOUTHWEST. - Rush Creek Hydroelectric System, Worker Cottage, Rush Creek, June Lake, Mono County, CA

  16. Impact of Summer Recess on Mathematics Learning Retention

    ERIC Educational Resources Information Center

    Hornack, David

    2016-01-01

    School administrators across the nation are actively searching for solutions to increase student achievement due in part to the significant amount of knowledge that is lost annually each summer. Mathematical computation skills are especially at-risk. This quantitative research study was designed to investigate the impact of summer recess also…

  17. Increasing Physical Activity of Children during School Recess

    ERIC Educational Resources Information Center

    Hayes, Lynda B.; Van Camp, Carole M.

    2015-01-01

    Physical activity is crucial for children's health. Fitbit accelerometers were used to measure steps of 6 elementary students during recess. The intervention included reinforcement, self-monitoring, goal setting, and feedback. Steps taken during the intervention phase (M?=?1,956 steps) were 47% higher than in baseline (M?=?1,326 steps), and the…

  18. Tag, Catch, and Other Unnatural Acts at Recess (Circa 2014)

    ERIC Educational Resources Information Center

    Sydnor, Synthia

    2014-01-01

    This commentary details a news event in which Carrie Weber Middle School in Port Washington, NY, supposedly banned students from using balls, playing tag, and doing cartwheels during recess. Public reaction in the form of news items, tweets, blogs, and commentary is sampled, and news releases from the Weber Middle School that were barely covered…

  19. 15. INTERIOR OF DINING ROOM SHOWING RECESSED TELEPHONE ALCOVE IN ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    15. INTERIOR OF DINING ROOM SHOWING RECESSED TELEPHONE ALCOVE IN PARTION WALL BETWEEN LIVING ROOM AND DINING ROOM AT PHOTO RIGHT CENTER. OPEN DOOR AT PHOTO LEFT CENTER LEADS TO BEDROOM NO.2. VIEW TO NORTH. - Bishop Creek Hydroelectric System, Plant 4, Worker Cottage, Bishop Creek, Bishop, Inyo County, CA

  20. Millennium-long recession of limestone facades in London

    NASA Astrophysics Data System (ADS)

    Brimblecombe, Peter; Grossi, Carlota M.

    2008-12-01

    Historical data on the temperature and precipitation data for London has been combined with output from the Hadley Model to estimate the climate of London for the period 1100-2100 CE. This has been converted to other parameters such as freeze-thaw frequency and snowfall relevant to the weathering of stone facades. The pollutant concentrations have been estimated for the same period, with the historical values taken from single box modelling and future values from changes likely given current policy within the metropolis. These values are used in the Lipfert model to show that the recession from karst weathering dominates across the period, while the contributions of sulphur deposition seem notable only across a shorter period 1700-2000 CE. Observations of the late seventeenth century suggest London architects witnessed a notable increase in the recession rate and attributed “fretting quality” to “smoaks of the sea-coal”. The recession rates measured in the late twentieth century lend some support to the estimates from the Lipfert model. The recession looks to increase only slightly, and frost shattering will decrease while salt weathering is likely to increase.

  1. Adjustable recessions in horizontal comitant strabismus: A pilot study

    PubMed Central

    Agrawal, Siddharth; Singh, Vinita; Singh, Priyanka

    2015-01-01

    Aim: To compare the surgical outcome of adjustable with the conventional recession in patients with horizontal comitant strabismus. Patients and Methods: A prospective comparative nonrandomized interventional pilot study was performed on patients with horizontal comitant strabismus. Fifty-four patients (27 in each group) were allocated into 2 groups to undergo either adjustable suture (AS) recession or non-AS (NAS) recession along with conventional resection. The patients were followed up for 6 months. A successful outcome was defined as deviation ±10 prism diopters at 6 months. The results were statistically analyzed by Chi-square test, Fisher's exact test, and Student's t-test. Results: A successful outcome was found in 24 (88.8%) patients in AS and 17 (62.9%) in NAS group (P = 0.02). The postoperative adjustment was done in 13 (48.1%) patients in AS group. There was one complication (tenon's cyst) in AS group. Conclusion: AS recession may be considered in all cooperative patients undergoing strabismus surgery for comitant deviations. PMID:26458480

  2. Gastrocnemius soleus recession: a simpler, more limited approach.

    PubMed

    Lamm, Bradley M; Paley, Dror; Herzenberg, John E

    2005-01-01

    Multiple surgical procedures have been described for the correction of equinus deformity. We present a review of the anatomy, biomechanics, and clinical assessment of equinus. In addition, we provide a detailed surgical technique for gastrocnemius soleus recession and introduce an anatomical guide for surgical treatment.

  3. The Post-Recession Employment Situation: A Comparative Perspective

    ERIC Educational Resources Information Center

    Couch, Kenneth A.

    2012-01-01

    Slow economic growth since the end of the U.S. recession in June of 2009 has not yet translated into increases in employment large enough to meaningfully reduce the rate of unemployment. Because expansionary macroeconomic policy has been pursued on both the fiscal and monetary fronts, it appears at first glance that the hands of government at this…

  4. 13. DETAIL VIEW, OF TAINTER GATE PIER, SHOWING RECESSES FOR ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    13. DETAIL VIEW, OF TAINTER GATE PIER, SHOWING RECESSES FOR EMERGENCY BULKHEADS AND DOGGING DEVICES, LOOKING SOUTHEAST (DOWN FACE). UPSTREAM FACE OF TAINTER GATE IS VISIBLE IN UPPER RIGHT CORNER - Upper Mississippi River 9-Foot Channel Project, Lock & Dam 26R, Alton, Madison County, IL

  5. Intrinsically Motivated, Free-Time Physical Activity: Considerations for Recess

    ERIC Educational Resources Information Center

    Stellino, Megan Babkes; Sinclair, Christina D.

    2008-01-01

    The current childhood obesity rates raise concern about youths' health and the role that a sedentary lifestyle plays in this growing trend. Focusing on how children choose to spend their free time is one approach that may yield ideas for reducing childhood obesity. Recess is a regularly occurring "free time" period in elementary schools. It is,…

  6. Recession Amnesia and the Prospects for New England's Institutions

    ERIC Educational Resources Information Center

    Halfond, Jay A.

    2010-01-01

    Among the little truly predictable, the author suggests three truths. First is the inevitability of recessions. Second is the belief that, in prosperity, these good times will just keep on rolling. Third is the fall. Bubbles will burst, myths shatter, plans unravel and pain sadly borne unjustly by those who didn't have a hand in the decisions that…

  7. School recess, social connectedness and health: a Canadian perspective.

    PubMed

    McNamara, Lauren; Colley, Paige; Franklin, Nicole

    2015-10-25

    Children need opportunities to establish positive social connections at school, yet many school playgrounds are challenged by social conflict that can undermine these connections. When children's social needs go unmet, the resultant feelings of loneliness, isolation and self-doubt can cumulatively lead to mental and physical illness. Because recess is typically the only time during the school day that children are free to socialize and play, we propose a more thoughtful way of thinking about it: from the lens of belongingness. Schools are, historically, designed for instruction. We argue, however, that we need to attend to children's social needs at school. We highlight current research from social neuroscience, belonging and social connectedness in order to delineate the pathways between daily school recess and developmental health trajectories. We then consolidate an array of research on play, social interaction and school change to suggest four areas that could benefit from consideration in research, practice and policy: (i) the culture of recess, (ii) the importance of healthy role models on the playground, (iii) the necessity of activities, options and variety during recess and (iv) the significance of space and spatial layout (indoor and outdoor). We bridge our discussion with the conception of health as described in the Ottawa Charter and emphasize the need to build alliances across sectors to assist schools in their efforts to support children's overall health needs.

  8. Employment of Ex-Offenders during the Recession

    ERIC Educational Resources Information Center

    Nally, John M.; Lockwood, Susan R.; Ho, Taiping

    2011-01-01

    Researchers have rarely examined post-release employment among offenders during a period of economic recession. However, studies on employment issues among post-release offenders have showed that released offenders would likely have a higher unemployment rate due to their inadequate education and job skills (Batiuk, 1997; Harlow, 2003; Vacca,…

  9. Endoscopic gastrocnemius recession: evaluation in a cadaver model.

    PubMed

    Tashjian, Robert Z; Appel, A Joshua; Banerjee, Rahul; DiGiovanni, Christopher W

    2003-08-01

    The purpose of this study was to describe a new method of gastrocnemius recession using an endoscopic approach and to determine the accuracy of incision placement during gastrocnemius recession. Fifteen fresh-frozen cadaveric limbs underwent an endoscopic gastrocnemius recession utilizing a two-portal technique. All limbs were anatomically dissected after the procedure and each was examined for injury to the sural nerve. The ability to visualize the sural nerve intraoperatively, improvement in ankle dorsiflexion, time requirement for the procedure, incision size, and appropriateness of placement to facilitate recession were recorded for each specimen. An average of 83% of the gastrocnemius aponeurosis was transected in all 15 cadavers. After modifications of the technique, the final eight cadavers were noted to have had the entire (100%) gastrocnemius aponeurosis transected. Sural nerve injury occurred in one specimen (7%) in which the aponeurosis and the sural nerve were not well visualized. The sural nerve was definitively visualized during the procedure in 5 of 15 specimens (33%). No Achilles tendon injury was noted in any specimen. There was a mean improvement in ankle dorsiflexion of 20 degrees (range, 10 degrees-30 degrees) during full knee extension. The average length of time to perform the procedure was 20 minutes (range, 10-35 minutes). The average medial and lateral incision lengths used in the two-portal technique were 18 mm (range, 14-22 mm) and 17 mm (range, 12-19 mm), respectively, and the average distance from the midpoint of the medial incision to the level of the gastrocnemius-soleus junction was 26 mm (range, 5-60 mm). These results indicate that a complete gastrocnemius aponeurosis transection may be obtained utilizing a modified endoscopic gastrocnemius recession, but visualization of the sural nerve is poor with possible risk of iatrogenic nerve injury.

  10. Identification of a novel mutation in FOXL2 gene that leads to blepharophimosis ptosis epicanthus inversus and telecanthus syndrome in a Tunisian consanguineous family.

    PubMed

    Chouchene, Ibtissem; Derouiche, Kaouthar; Chaabouni, Afif; Cherif, Lamia; Amouri, Ahlem; Largueche, Leila; Abdelhak, Sonia; El Matri, Leila

    2010-02-01

    Mutations in FOXL2 gene are responsible for blepharophimosis ptosis epicanthus inversus and telecanthus syndrome (BPES). The BPES syndrome is a rare autosomal dominant genetic disease characterized by eyelid malformations associated with premature ovarian failure (BPES type I) or not (BPES type II). The human FOXL2 protein (376 aa) contains a 100 amino-acid DNA-binding forkhead domain (residues 52-152) and a polyalanine tract (residues 221-234). In the present study, we report the molecular investigation of four affected members with BPES syndrome in a Tunisian consanguineous family. To identify the causative mutation, we performed a direct sequencing of the FOXL2 gene. The sequence analysis of the coding exon revealed a novel frameshift mutation g.1113 dup C, c.876 dup C, p.P292 Fs. The mutation is located downstream of the polyalanine tract and causes the protein extension to 532 aa. This study reports for the first time a novel frameshift mutation in two-generation consanguineous Tunisian family with BPES. Our results expand the spectrum of FOXL2 mutations.

  11. Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity.

    PubMed

    Sztriha, László; Johansen, Johan G

    2005-06-01

    We review 25 patients with a spectrum of hindbrain (cerebellum, pons, and medulla) malformations from a cohort of children with high parental consanguinity rate. Twenty-three of the 25 patients were born to consanguineous parents. The patients were classified in four groups. Eleven patients of 6 families had malformation of the hindbrain and midbrain with molar tooth sign (10 patients of 5 families with typical Joubert syndrome), 5 patients showed severe supratentorial anomalies in addition to the hindbrain malformations, 5 patients had pontocerebellar or cerebellar hypoplasia with anterior horn cell disease in the spinal cord (spinal muscular atrophy), and 4 patients showed malformations affecting predominantly the hindbrain without substantial involvement of other systems. A locus for Joubert syndrome was previously identified on chromosome 9q34.3 in two families, and a second locus on chromosome 11p12-q13.3 in another family. A third Joubert syndrome locus has been mapped at 6q23 and a mutation in the AHI1 gene at this site has been found recently in a further family from this cohort. Delineation of homogeneous subgroups of patients with hindbrain malformations and molecular genetic analysis of these groups may lead to identification of further loci, genes and mutations responsible for the malformations.

  12. Use of statistical tests and statistical software choice in 2014: tale from three Medline indexed Pakistani journals.

    PubMed

    Shaikh, Masood Ali

    2016-04-01

    Statistical tests help infer meaningful conclusions from studies conducted and data collected. This descriptive study analyzed the type of statistical tests used and the statistical software utilized for analysis reported in the original articles published in 2014 by the three Medline-indexed journals of Pakistan. Cumulatively, 466 original articles were published in 2014. The most frequently reported statistical tests for original articles by all three journals were bivariate parametric and non-parametric tests i.e. involving comparisons between two groups e.g. Chi-square test, t-test, and various types of correlations. Cumulatively, 201 (43.1%) articles used these tests. SPSS was the primary choice for statistical analysis, as it was exclusively used in 374 (80.3%) original articles. There has been a substantial increase in the number of articles published, and in the sophistication of statistical tests used in the articles published in the Pakistani Medline indexed journals in 2014, compared to 2007.

  13. Toxic metals signature in the human seminal plasma of Pakistani population and their potential role in male infertility.

    PubMed

    Zafar, Ambreen; Eqani, Syed Ali Musstjab Akber Shah; Bostan, Nazish; Cincinelli, Alessandra; Tahir, Faheem; Shah, Syed Tahir Abbas; Hussain, Alamdar; Alamdar, Ambreen; Huang, Qingyu; Peng, Siyuan; Shen, Heqing

    2015-06-01

    Aims of this study were to provide firsthand data on the incidence of trace metals in human seminal plasma and find possible correlations between levels of toxic metals and semen quality of Pakistani population. Human semen samples were collected from male partners of couples undergoing infertility assessment at the National Institute of Health Islamabad (Pakistan). We investigated seventy-five seminal plasma samples, which were further categorized into three groups (normozoospermia, oligozoospermia and azoospermia) according to WHO guidelines. The concentration of 17 different toxic metals in human seminal plasma was determined simultaneously by using Inductively coupled plasma mass spectrometry (ICP-MS). Out of 17 trace metals, Cd and Ni showed significant difference (p < 0.05) among three monitored groups. Ni and Cd concentrations in the seminal plasma were negatively correlated with sperm concentration (r = -0.26, -0.29) and motility (r = -0.33, -0.37), respectively. This study suggested that exposure of Ni and Cd is mainly related with the consumption of contaminated dietary items, including ghee (cooking oil), flour and other agri-products. In some semen samples, the concentrations of Sn, V, Cu, Pb, Cr and Hg exhibited high levels suggesting a recent human exposure to surrounding sources. In Pakistani human semen samples, the levels of trace metals were lower and/or comparable to that found in populations of other countries. The results show the first evidence of the effect of toxic metals on semen quality and male infertility in Pakistan.

  14. Proposed Strategy for Selection Against Recessive Genetic Defects Through a Combination of Inbreeding and DNA Markers

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Recessive genetic defects are currently on the minds of many cattle breeders. The relatively rapid development of diagnostic DNA tests for recessive defects appears to be a major recent technological advancement. However, the attitude of breeders and breed associations toward recessive defects seems...

  15. Non-Overweight and Overweight Children's Physical Activity during School Recess

    ERIC Educational Resources Information Center

    Ridgers, Nicola D.; Saint-Maurice, Pedro F.; Welk, Gregory J.; Siahpush, Mohammad; Huberty, Jennifer L.

    2014-01-01

    Objective: Little research has investigated children's physical activity levels during school recess and the contribution of recess to school day physical activity levels by weight status. The aims of this study were to examine non-overweight and overweight children's physical activity levels during school recess, and examine the contribution of…

  16. Ready for Recess: A Pilot Study to Increase Physical Activity in Elementary School Children

    ERIC Educational Resources Information Center

    Huberty, Jennifer L.; Siahpush, Mohammad; Beighle, Aaron; Fuhrmeister, Erin; Silva, Pedro; Welk, Greg

    2011-01-01

    Background: Creating an optimal environment at recess may be necessary to maximize physical activity (PA) participation in youth. The purpose of this study was to determine the initial effectiveness of an elementary school recess intervention on the amount of moderate PA (MPA) and vigorous PA (VPA) during recess and the school day. Methods: This…

  17. Elementary School Recess: Selected Readings, Games, and Activities for Teachers and Parents.

    ERIC Educational Resources Information Center

    Clements, Rhonda L., Ed.

    Based upon the principle that all children have a right to play and to experience the benefits of recess, this book assists elementary school teachers and parents in offering children in preschool through Grade 6 appropriate recess games and activities and provides a variety of readings that support the need for recess activities. The book is…

  18. Did Cuts in State Aid during the Great Recession Lead to Changes in Local Property Taxes?

    ERIC Educational Resources Information Center

    Chakrabarti, Rajashri; Livingston, Max; Roy, Joydeep

    2014-01-01

    The Great Recession led to marked declines in state revenue. In this paper we investigate whether (and how) local school districts modified their funding and taxing decisions in response to state aid declines in the post-recession period. Our results reveal school districts responded to state aid cuts in the post-recession period by countering…

  19. The Great Recession, Public Transfers, and Material Hardship

    PubMed Central

    Pilkauskas, Natasha V.; Currie, Janet; Garfinkel, Irwin

    2013-01-01

    Economic downturns lead to lost income and increased poverty. Although high unemployment almost certainly also increases material hardship, and government transfers likely decrease hardship, the first relationship has not yet been documented and the second is poorly understood. We use data from five waves of the Fragile Families and Child Well-being Study to study the relationships between unemployment, government transfers, and material hardship. The latest wave of data was collected during the Great Recession, the worst recession since the Great Depression, providing a unique opportunity to look at how high unemployment rates affect the well-being of low income families. We find that the unemployment rate is associated with increased overall material hardship, difficulty paying bills, having utilities disconnected, and with increased usage of TANF, SNAP, UI and Medicaid. If not for SNAP, food hardship might have increased by twice the amount actually observed. PMID:24379487

  20. Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder.

    PubMed Central

    Pagon, R A; Bird, T D; Detter, J C; Pierce, I

    1985-01-01

    We report two families in which a non-progressive spinocerebellar syndrome and a sideroblastic anaemia are segregating together in an X linked recessive fashion. Four males in two generations of one family and a fifth male from an unrelated family had both conditions. Both the sideroblastic anaemia and the spinocerebellar syndrome differ from those which have previously been reported to be inherited in an X linked recessive manner. The association of these two clinically distinct disorders in two unrelated families suggests that they are either two closely linked loci which have undergone simultaneous mutation or pleiotropic effects of an altered allele at a single locus. All the heterozygous women had normal neurological examinations and normal haematocrits and red cell indices. Some had ring sideroblasts on bone marrow examination, a dimorphic peripheral blood smear, and raised serum free erythrocyte protoporphyrin, suggesting that a proportion of heterozygotes can be detected by appropriate haematological studies. PMID:4045952

  1. Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder.

    PubMed

    Pagon, R A; Bird, T D; Detter, J C; Pierce, I

    1985-08-01

    We report two families in which a non-progressive spinocerebellar syndrome and a sideroblastic anaemia are segregating together in an X linked recessive fashion. Four males in two generations of one family and a fifth male from an unrelated family had both conditions. Both the sideroblastic anaemia and the spinocerebellar syndrome differ from those which have previously been reported to be inherited in an X linked recessive manner. The association of these two clinically distinct disorders in two unrelated families suggests that they are either two closely linked loci which have undergone simultaneous mutation or pleiotropic effects of an altered allele at a single locus. All the heterozygous women had normal neurological examinations and normal haematocrits and red cell indices. Some had ring sideroblasts on bone marrow examination, a dimorphic peripheral blood smear, and raised serum free erythrocyte protoporphyrin, suggesting that a proportion of heterozygotes can be detected by appropriate haematological studies.

  2. Alternative method of conservative esthetic treatment for gingival recession.

    PubMed

    Zalkind, M; Hochman, N

    1997-06-01

    The health and appearance of gingival tissue play an essential role in esthetics. The esthetic function of the tissue is enhanced when it frames the restoration. With gingival recession, the effect of natural gingiva is created with pink composites or ceramics on the cervical part of the crown, as described in this clinical report. This goal depends on the absence of adverse effects on the color, shape, and health of the surrounding tissue. The new composites are more color stable and wear resistant, and the latest generation of dental bonding agents allows the bonding of composites to dentin, various metals, and porcelain. The application of soft-tissue colored composite on dentin cementum, enamel, or porcelain is a good solution for correcting gingival recessions.

  3. The impact of economic recession on infection prevention and control.

    PubMed

    O'Riordan, M; Fitzpatrick, F

    2015-04-01

    The economic recession that began in 2007 led to austerity measures and public sector cutbacks in many European countries. Reduced resource allocation to infection prevention and control (IPC) programmes is impeding prevention and control of tuberculosis, HIV and vaccine-preventable infections. In addition, higher rates of infectious disease in the community have a significant impact on hospital services, although the extent of this has not been studied. With a focus on quick deficit reduction, preventive services such IPC may be regarded as non-essential. Where a prevention programme succeeds in reducing disease burden to a low level, its very success can undermine the perceived need for the programme. To mitigate the negative effects of recession, we need to: educate our political leaders about the economic benefits of IPC; better quantify the costs of healthcare-associated infection; and evaluate the effects of budget cuts on healthcare outcomes and IPC activities.

  4. Bone Marrow Transplantation for Recessive Dystrophic Epidermolysis Bullosa

    PubMed Central

    Wagner, John E.; Ishida-Yamamoto, Akemi; McGrath, John A.; Hordinsky, Maria; Keene, Douglas R.; Riddle, Megan J.; Osborn, Mark J.; Lund, Troy; Dolan, Michelle; Blazar, Bruce R.; Tolar, Jakub

    2010-01-01

    Background Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucocutaneous blistering disease caused by mutations in COL7A1, the gene encoding type VII collagen (C7). On the basis of preclinical data showing biochemical correction and prolonged survival in col7−/− mice, we hypothesized that allogeneic marrow contains stem cells capable of ameliorating the manifestations of recessive dystrophic epidermolysis bullosa in humans. Methods Between October 2007 and August 2009, we treated seven children who had recessive dystrophic epidermolysis bullosa with immunomyeloablative chemotherapy and allogeneic stem-cell transplantation. We assessed C7 expression by means of immunofluorescence staining and used transmission electron microscopy to visualize anchoring fibrils. We measured chimerism by means of competitive polymerase-chain-reaction assay, and documented blister formation and wound healing with the use of digital photography. Results One patient died of cardiomyopathy before transplantation. Of the remaining six patients, one had severe regimen-related cutaneous toxicity, with all having improved wound healing and a reduction in blister formation between 30 and 130 days after transplantation. We observed increased C7 deposition at the dermal–epidermal junction in five of the six recipients, albeit without normalization of anchoring fibrils. Five recipients were alive 130 to 799 days after transplantation; one died at 183 days as a consequence of graft rejection and infection. The six recipients had substantial proportions of donor cells in the skin, and none had detectable anti-C7 antibodies. Conclusions Increased C7 deposition and a sustained presence of donor cells were found in the skin of children with recessive dystrophic epidermolysis bullosa after allogeneic bone marrow transplantation. Further studies are needed to assess the long-term risks and benefits of such therapy in patients with this disorder. (Funded by the National

  5. The Great Recession and Health Risks in African American Youth

    PubMed Central

    Chen, Edith; Miller, Gregory E.; Yu, Tianyi; Brody, Gene H.

    2016-01-01

    In the present study, we investigated associations of macro-economic conditions - the Great Recession - with cellular epigenetic aging, allostatic load, and self-reported health, in a group that experiences significant health disparities, African Americans. A sample of 330 African American adolescents in Georgia was followed from pre-recession (2007, M age=16.6) to post-recession (2010, M age=19.3). Economic data were collected in both 2007 and 2010. Three groups were formed to represent economic trajectories across the period of the Great Recession (stable low economic hardship, downward mobility, and stable high economic hardship). At age 19, measures of cellular epigenetic aging (derived from leukocyte DNA methylation profiles, reflecting the disparity between a person’s biological and chronological age), allostatic load (composite of blood pressure, C reactive protein, cortisol, epinephrine, norepinephrine, and body mass index), and adolescent self-report of health were obtained. Linear trend analyses documented significant differences across all outcomes. The more time adolescents spent under economic hardship, the higher their epigenetic aging [estimate=1.421, se=0.466, p=.002] and allostatic load [estimate=1.151, se=0.375, p=.002] scores, and the worse their self-report of health [estimate=4.957, se=1.800, p=.006]. Specific group comparisons revealed that adolescents in the downward mobility group had higher levels of allostatic load than adolescents in the stable low hardship group [p<.05]. Overall, these findings suggest that the health profiles of African American youth may in part be shaped by environmental macro-economic societal conditions, and that effects on biological markers can be detected relatively early in life. PMID:26718449

  6. Anatomy of the pleura: reflection lines and recesses.

    PubMed

    Bertin, François; Deslauriers, Jean

    2011-05-01

    Knowledge of the anatomy of the lines of pleural reflection, triangular ligaments, and pleural recesses is important to thoracic surgeons because their anatomic areas are used daily for radiographic interpretation as well as for the performance of procedures such as chest tube insertion, thoracentesis, and pericardiocentesis. Their knowledge is also important for thoracic surgeons doing surgical procedures such as parietal pleurectomies, extrapleural mobilization and resection of the lungs, and pleuroneumonectomies for destroyed lungs or malignant pleural neoplasms.

  7. Job Loss and Infrastructure Job Creation Spending During the Recession

    DTIC Science & Technology

    2010-05-26

    MONITOR’S REPORT NUMBER(S) 12. DISTRIBUTION /AVAILABILITY STATEMENT Approved for public release; distribution unlimited 13. SUPPLEMENTARY NOTES 14...Depression period. (See CRS Report R41017, Job Creation Programs of the Great Depression: the WPA and the CCC.) To mitigate all but one recession since the...interrelationships between industries in the production process, showing how the dollar value of a sale is distributed across industries at a particular point in

  8. Synthesis of streamflow recession curves in dry environments

    NASA Astrophysics Data System (ADS)

    Arciniega, Saul; Breña-Naranjo, Agustín; Pedrozo-Acuña, Adrían

    2015-04-01

    The elucidation and predictability of hydrological systems can largely benefit by extracting observed patterns in processes, data and models. Such type of research framework in hydrology, also known as synthesis has gained significant attention over the last decade. For instance, hydrological synthesis implies that the identification of patterns in catchment behavior can enhance the extrapolation of hydrological signatures over large spatial and temporal scales. Hydrological signatures during dry periods such as streamflow recession curves (SRC) are of special interest in regions coping with water scarcity. Indeed, the study of SRCs from observed hydrographs allows to extract information about the storage-discharge relationship of a specific catchment and some of their groundwater hydraulic properties. This work aims at performing a synthesis work of SRCs in semi-arid & arid environments across Northern Mexico. Our dataset consisted in observed daily SRCs in 63 catchments with minima human interferences. Three streamflow recession extraction methods (Vogel, Brutsaert and Aksoy-Wittenberg) along with four recession models (Maillet, Boussinesq, Coutagne y Wittenberg) and three parameter estimation techniques (regressions, lower envelope y data binning) were used to determine the combination among different possible methods, processes and models that better describes SRCs in our study sites. Our results show that the extraction method proposed by Aksoy-Wittenberg along with Coutagne's nonlinear recession model provides a better approximation of SRCs across Northern Mexico, whereas regression was found to be the most adequate parameter estimation method. This study suggests that hydrological synthesis turned out to be an useful framework to identify similar patterns and model parameters during dry periods across Mexico's water-limited environments.

  9. A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.

    PubMed

    Lobo-Prada, Tanya; Sticht, Heinrich; Bogantes-Ledezma, Sixto; Ekici, Arif; Uebe, Steffen; Reis, André; Leal, Alejandro

    2017-01-28

    Intellectual disability is a highly heterogeneous disease that affects the central nervous system and impairs patients' ability to function independently. Despite multiples genes involved in the etiology of disease, most of the genetic background is yet to be discovered. We used runs of homozygosity and exome sequencing to study a large Costa Rican family with four individuals affected with severe intellectual disability and found a novel homozygous missense mutation, p. 96G>R, c. 286G>A, in all affected individuals. This gene encodes for a pyridoxal enzyme involved in the production of the neurotransmitter glutamate and is highly expressed in the white matter of brain and cerebellum. Protein modeling of GPT2 predicted that the mutation is located in a loop where the substrate binds to the active site of the enzyme, therefore, suggesting that the catalytic activity is impaired. With our report of a second mutation we fortify the importance of GPT2 as a novel cause of autosomal recessive nonsyndromic intellectual disability and support the premise that GPT2 is highly important for the neurodevelopment of the central nervous system.

  10. Recession and Divorce in the United States, 2008-2011

    PubMed Central

    Cohen, Philip N.

    2015-01-01

    Recession may increase divorce through a stress mechanism, or reduce divorce by exacerbating cost barriers or strengthening family bonds. After establishing an individual-level model predicting U.S. women's divorce, the paper tests period effects, and whether unemployment and foreclosures are associated with the odds of divorce using the 2008-2011 American Community Survey. Results show a downward spike in the divorce rate after 2008, almost recovering to the expected level by 2011, which suggests a negative recession effect. On the other hand, state foreclosure rates are positively associated with the odds of divorce with individual controls, although this effect is not significant when state fixed effects are introduced. State unemployment rates show no effect on odds of divorce. Future research will have to determine why national divorce odds fell during the recession while state-level economic indicators were not strongly associated with divorce. Exploratory analysis which shows unemployment decreasing divorce odds for those with college degrees, while foreclosures have the opposite effect, provides one possible avenue for such research. PMID:26023246

  11. A bird's eye view of a deleterious recessive allele.

    PubMed

    Ekblom, Robert

    2016-07-01

    In the endangered Scottish chough (Pyrrhocorax pyrrhocorax) population, a lethal blindness syndrome is found to be caused by a deleterious recessive allele. Photo: Gordon Yates. In Focus: Trask, A.E., Bignal, E.M., McCracken, D.I., Monaghan, P., Piertney, S.B. & Reid, J.M. (2016) Evidence of the phenotypic expression of a lethal recessive allele under inbreeding in a wild population of conservation concern. Journal of Animal Ecology, 85, 879-891. In this issue of Journal of Animal Ecology, Trask et al. () report on a strange, lethal, blindness that regularly affects chicks of an endangered bird population. The authors show that the inheritance mode of this blindness disease precisely matches the expectations of a recessive deleterious mutation. Intriguingly, there is also an indication that the disease-causing variant might be maintained in the population by balancing selection, due to a selective advantage for heterozygotes. Could this finding have consequences for conservation actions implemented for the population?

  12. Endoscopic gastrocnemius recession: preliminary report on 18 cases.

    PubMed

    Saxena, Amol; Widtfeldt, Arthur

    2004-01-01

    A technique of endoscopic gastrocnemius recession was evaluated. Fifteen patients undergoing 18 procedures were prospectively studied with a minimum follow-up of 1 year. There were 9 women and 6 men (mean age, 44.1 +/- 22.6 years). One patient had an isolated recession; the others had various adjunctive flatfoot or reconstructive procedures. Pre- and postoperative ankle dorsiflexion was evaluated, as was the amount of time before patients could perform a single-leg heel raise postoperatively. The mean preoperative ankle dorsiflexion with the knee extended was -8.7 degrees +/- 3.5 degrees , which improved from a mean 14.9 degrees at 3 months postoperatively to a mean 6.2 degrees +/- 2.6 degrees . At 12 months postoperatively, this value was 3.6 degrees +/- 1.8 degrees , a net postoperative improvement of 12.6 degrees (P < .00001). Patients were able to perform a single-leg heel raise on an average of 13.0 +/- 6.0 weeks. Complications were mostly related to lateral foot dysesthesia in the distribution of the sural nerve (N = 3). Furrowing of the medial leg was noted in 1 patient. No hematomas or neuromas associated with the portal sites were found. These results show endoscopic gastrocnemius recession to be an acceptable method of lengthening the gastrocnemius complex.

  13. ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

    PubMed Central

    Fares-Taie, Lucas; Gerber, Sylvie; Chassaing, Nicolas; Clayton-Smith, Jill; Hanein, Sylvain; Silva, Eduardo; Serey, Margaux; Serre, Valérie; Gérard, Xavier; Baumann, Clarisse; Plessis, Ghislaine; Demeer, Bénédicte; Brétillon, Lionel; Bole, Christine; Nitschke, Patrick; Munnich, Arnold; Lyonnet, Stanislas; Calvas, Patrick; Kaplan, Josseline; Ragge, Nicola; Rozet, Jean-Michel

    2013-01-01

    Anophthalmia and microphthalmia (A/M) are early-eye-development anomalies resulting in absent or small ocular globes, respectively. A/M anomalies occur in syndromic or nonsyndromic forms. They are genetically heterogeneous, some mutations in some genes being responsible for both anophthalmia and microphthalmia. Using a combination of homozygosity mapping, exome sequencing, and Sanger sequencing, we identified homozygosity for one splice-site and two missense mutations in the gene encoding the A3 isoform of the aldehyde dehydrogenase 1 (ALDH1A3) in three consanguineous families segregating A/M with occasional orbital cystic, neurological, and cardiac anomalies. ALDH1A3 is a key enzyme in the formation of a retinoic acid gradient along the dorso-ventral axis during early eye development. Transitory expression of mutant ALDH1A3 open reading frames showed that both missense mutations reduce the accumulation of the enzyme, potentially leading to altered retinoic acid synthesis. Although the role of retinoic acid signaling in eye development is well established, our findings provide genetic evidence of a direct link between retinoic-acid-synthesis dysfunction and early-eye-development anomalies in humans. PMID:23312594

  14. Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report

    PubMed Central

    Magaña, Jonathan J; Tapia-Guerrero, Yessica S; Velázquez-Pérez, Luis; Cruz-Mariño, Tania; Cerecedo-Zapata, Cesar M; Gómez, Rocío; Murillo-Melo, Nadia M; González-Piña, Rigoberto; Hernández-Hernández, Oscar; Cisneros, Bulmaro

    2014-01-01

    Spinocerebellar ataxia type 7 (SCA7) is a genetic disorder characterized by degeneration of the cerebellum, brainstem, and retina that is caused by abnormal expansion of a CAG repeat located in the ATXN7 gene encoding sequence on chromosome 3p21.1. Although SCA7 is an uncommon autosomal dominant ataxia, we previously found increased prevalence of the disease in a Southeastern Mexican population. In this study, we described to our knowledge for the first time a marriage of consanguineous SCA7 mutation carriers and their offspring effect. We characterized a severely affected infantile-onset female patient whose parents and two siblings exhibited no symptoms of the disease at time of diagnosis. A comprehensive clinical analysis of the proband showed a progressive cerebellar syndrome, including gait ataxia, movement disorders, and saccadic movements, as well as hyperreflexia, visual deterioration, urinary and cardiovascular dysfunction, and impaired nerve conduction. The SCA7 mutation was detected in the proband patient. Subsequently, genetic examination using four ATXN7 gene-linked markers (three centromeric microsatellite markers [D3S1228, D3S1287, and D3S3635] and an intragenic Single Nucleotide Polymorphism [SNP-3145G/A]) revealed that the proband descends from a couple of consanguineous SCA7 mutation carriers. Genotyping analysis demonstrated that all offspring inherited only one mutant allele, and that the severe infantile-onset phenotype is caused by germinal expansion (from 37 to 72 CAG repeats) of the paternal mutant allele. Interestingly, the couple also referred a miscarriage. Finally, we found no CAA interruptions in the ATXN7 gene CAG repeats tract in this family, which might explain, at least in part, the triplet instability in the proband. PMID:25664129

  15. Genetic heterogeneity and consanguinity lead to a “double hit”: Homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa

    PubMed Central

    Goldenberg-Cohen, Nitza; Banin, Eyal; Zalzstein, Yael; Cohen, Ben; Rotenstreich, Ygal; Rizel, Leah; Basel-Vanagaite, Lina

    2013-01-01

    Purpose Retinitis pigmentosa (RP), the most genetically heterogeneous disorder in humans, actually represents a group of pigmentary retinopathies characterized by night blindness followed by visual-field loss. RP can appear as either syndromic or nonsyndromic. One of the most common forms of syndromic RP is Usher syndrome, characterized by the combination of RP, hearing loss, and vestibular dysfunction. Methods The underlying cause of the appearance of syndromic and nonsyndromic RP in three siblings from a consanguineous Israeli Muslim Arab family was studied with whole-genome homozygosity mapping followed by whole exome sequencing. Results The family was found to segregate novel mutations of two different genes: myosin VIIA (MYO7A), which causes type 1 Usher syndrome, and phosphodiesterase 6B, cyclic guanosine monophosphate-specific, rod, beta (PDE6B), which causes nonsyndromic RP. One affected child was homozygous for both mutations. Since the retinal phenotype seen in this patient results from overlapping pathologies, one might expect to find severe retinal degeneration. Indeed, he was diagnosed with RP based on an abnormal electroretinogram (ERG) at a young age (9 months). However, this early diagnosis may be biased, as two of his older siblings had already been diagnosed, leading to increased awareness. At the age of 32 months, he had relatively good vision with normal visual fields. Further testing of visual function and structure at different ages in the three siblings is needed to determine whether the two RP-causing genes mutated in this youngest sibling confer increased disease severity. Conclusions This report further supports the genetic heterogeneity of RP, and demonstrates how consanguinity could increase intrafamilial clustering of multiple hereditary diseases. Moreover, this report provides a unique opportunity to study the clinical implications of the coexistence of pathogenic mutations in two RP-causative genes in a human patient. PMID:23882135

  16. Inbreeding coefficients for X-linked and autosomal genes in consanguineous marriages in Spanish populations: the case of Guipúzcoa (Basque Country).

    PubMed

    Calderón, R; Aresti, U; Ambrosio, B; González-Martín, A

    2009-03-01

    Inbreeding patterns over the past two centuries have been studied more extensively in Spain and Italy than anywhere else in Europe. Consanguinity studies in mainland Spain have shown that populations settled along the Cantabrian cornice share inbreeding patterns that distinguish them from other populations further south. A visual representation of spatial variations of two key inbreeding variables is presented here for the first time via contour maps. This paper also analyzes time trends of mean inbreeding coefficients for X-linked (F(x)) and autosomal genes (F) (1862-1995) together with variations in F(x)/F ratios in Guipúzcoa, the most autochthonous Spanish Basque province. Because close cousin marriages are a mark of identity of the study population, we evaluated the contribution of uncle-niece/aunt-nephew (M12) and first cousin (M22) marriages to F(x) and F values and compared the frequencies of M12 and M22 pedigree subtypes and their corresponding F(x)/F ratios to those found in other Spanish populations. The mean Fx and F inbreeding levels in Guipúzcoa for the 134-year period analyzed were 1.51 x 10(-3) and 1.04 x 10(-3), respectively, and the F(x)/F ratio was seen to be very stable over time. Our findings show that major similarities exist for close consanguineous marriage subtypes between Basque and non-Basque Spanish populations, despite significant geographic variability in terms of first cousin pedigrees. The distortion seems to be caused by Guipúzcoa. The F(x)/F ratios for first cousins in Spanish populations were higher than expected (1.25), with values ranging from 1.34 to 1.48. The findings of the present study may be useful for advancing knowledge on the effects of the interaction between biology and culture and for exploring associations between mating patterns and the prevalence of certain diseases.

  17. The Great Recession and Mother’s Health

    PubMed Central

    Currie, Janet; Duque, Valentina; Garfinkel, Irwin

    2016-01-01

    We use longitudinal data from the Fragile Families and Child Well-being Study to investigate the impacts of the Great Recession on the health of mothers. We focus on a wide range of physical and mental health outcomes, as well as health behaviors. We find that increases in the unemployment rate decrease self-reported health status and increase smoking and drug use. We also find evidence of heterogeneous impacts. Disadvantaged mothers—African-American, Hispanic, less educated, and unmarried–experience greater deterioration in their health than advantaged mothers—those who are white, married, and college educated. PMID:27212714

  18. The extended knee hemilithotomy position for gastrocnemius recession.

    PubMed

    Dayton, Paul; Wienke, Jeffrey

    2010-01-01

    The focus of this communication is to share an alternative positioning method that we have used over the past 3 years for gastrocnemius recession with the patient supine on the operating table. The technique uses a candy-cane leg holding system to situate the patient in the extended knee hemilithotomy position. We have found that this position provides excellent visualization of the surgical site, furnishes the anesthesiologist with optimal access to the patient, negates the need to turn the patient from prone to supine when adjunct procedures are to be undertaken, and allows the involved extremity to remain sterile throughout the operation, without an increase in complications or cost.

  19. Clinical importance of duodenal recesses with special reference to internal hernias

    PubMed Central

    Rana, Kum Kum; Kakar, Arun; Aggarwal, Satish; Aggrawal, Anil; Kakar, Smita; Borkar, Nitinkumar

    2016-01-01

    Introduction The detailed knowledge of the peritoneal recesses has great significance with respect to internal hernias. The recesses are usually related to rotation and adhesion of abdominal viscera to the posterior abdominal wall and/or the presence of retroperitoneal vessels which raises the serosal fold. The duodenal recesses are usually related to the 3rd and 4th parts of the duodenum. Internal hernias with respect to these recesses are difficult to diagnose clinically and usually noticed at the time of laparotomy. So, the knowledge of these recesses can be valuable to abdominal surgeons. Material and methods The present study was conducted in 100 cases including 10 cadavers, 45 post mortem cases and 45 cases undergoing laparotomy. Results We found superior and inferior duodenal recesses in 28% and 52% respectively, paraduodenal in 12%, mesentericoparietal in 3%, retroduodenal in 2% and duodenojejunal in 18% of cases. Two abnormal duodenojejunal recesses were found, one on the right (instead of the left) of the abdominal aorta, and in the other the opening was directed upwards instead of downwards. The incidence of internal hernias was 3%. Conclusions Thus it was observed that there is low incidence of superior and inferior duodenal recesses, and high incidence of paraduodenal recess. The abnormal recesses might be due to malrotation of the gut. In laparotomy cases, the internal hernia was noticed when the abdomen was opened for intestinal obstruction. The incidence of internal hernia was found to be high. PMID:28144266

  20. The M=7.6 Earthquake in the Pakistani-Administered Region of Kashmir on Oct. 8, 2005

    NASA Astrophysics Data System (ADS)

    Chaudhary, Q.; Nisar, A.; Mooney, W. D.; Loeffler, K.

    2006-12-01

    On October 8, 2005 a M=7.6 earthquake struck the northwestern portion of the Himalayan region. Damage was extensive in the Pakistani-administered region of Kashmir and the North West Frontier Province (NWFP) of Pakistan. The mainshock occurred at 03:50 (UTC/GMT), 8:50 AM local time with the epicenter located in the Kishenganga (Neelam) Valley, approximately 100 km north of Pakistan's capital city of Islamabad. The earthquake ruptured the Indus-Kohistan seismic zone, accompanied by rupture of the Balakot-Bagh fault that runs along the Jhelum River in the northwest direction and passes close to the city of Muzaffarabad (Capital of Pakistani-administered Kashmir), and Balakot. The tremors lasted for about 50 seconds. Approximately 200,000 houses collapsed and entire towns and villages were destroyed (Harp &Crone, 2006; Parsons et al., 2006). The northern regions of Mansehra and Muzaffarabad were the worst-affected areas, and the majority of deaths occurred in the town of Muzaffarabad where an estimated 80% of the buildings collapsed. The nearby town of Balakot was completely destroyed along with several mountain villages. It is estimated that approximately 87,000 people were killed, and 74,000 were injured (Parsons et al., 2006; Khattri, 1986, Rai & Murty, 2006). Within 24 hours of the mainshock, aftershocks were registered of which more than 20 were over M=5.0. Since Pakistan's formation in 1947, the population has increased from c. 32 Million to c. 165 Million today. The official average is 166 persons/km2, but the population-density varies significantly throughout the country. Islamabad, Karachi, and Lahore (up to 550 persons/km2) have some of the highest densities in the world. Because of the population increase in Pakistan, there are larger settlements and cities developing in earthquake-prone regions. This subjects more people to potential seismic hazards. As demonstrated during the recent earthquake, construction in the earthquake-prone areas is highly

  1. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

    PubMed

    Stover, E H; Borthwick, K J; Bavalia, C; Eady, N; Fritz, D M; Rungroj, N; Giersch, A B S; Morton, C C; Axon, P R; Akil, I; Al-Sabban, E A; Baguley, D M; Bianca, S; Bakkaloglu, A; Bircan, Z; Chauveau, D; Clermont, M-J; Guala, A; Hulton, S A; Kroes, H; Li Volti, G; Mir, S; Mocan, H; Nayir, A; Ozen, S; Rodriguez Soriano, J; Sanjad, S A; Tasic, V; Taylor, C M; Topaloglu, R; Smith, A N; Karet, F E

    2002-11-01

    Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased urinary calcium solubility, and impaired bone physiology and growth. Two types of rdRTA have been differentiated by the presence or absence of sensorineural hearing loss, but appear otherwise clinically similar. Recently, we identified mutations in genes encoding two different subunits of the renal alpha-intercalated cell's apical H(+)-ATPase that cause rdRTA. Defects in the B1 subunit gene ATP6V1B1, and the a4 subunit gene ATP6V0A4, cause rdRTA with deafness and with preserved hearing, respectively. We have investigated 26 new rdRTA kindreds, of which 23 are consanguineous. Linkage analysis of seven novel SNPs and five polymorphic markers in, and tightly linked to, ATP6V1B1 and ATP6V0A4 suggested that four families do not link to either locus, providing strong evidence for additional genetic heterogeneity. In ATP6V1B1, one novel and five previously reported mutations were found in 10 kindreds. In 12 ATP6V0A4 kindreds, seven of 10 mutations were novel. A further nine novel ATP6V0A4 mutations were found in "sporadic" cases. The previously reported association between ATP6V1B1 defects and severe hearing loss in childhood was maintained. However, several patients with ATP6V0A4 mutations have developed hearing loss, usually in young adulthood. We show here that ATP6V0A4 is expressed within the human inner ear. These findings provide further evidence for genetic heterogeneity in rdRTA, extend the spectrum of disease causing mutations in ATP6V1B1 and ATP6V0A4, and show ATP6V0A4 expression within the cochlea for the first time.

  2. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

    PubMed Central

    Stover, E; Borthwick, K; Bavalia, C; Eady, N; Fritz, D; Rungroj, N; Giersch, A; Morton, C; Axon, P; Akil, I; Al-Sabban, E; Baguley, D; Bianca, S; Bakkaloglu, A; Bircan, Z; Chauveau, D; Clermont, M; Guala, A; Hulton, S; Kroes, H; Li, V; Mir, S; Mocan, H; Nayir, A; Ozen, S; Rodriguez, S; Sanjad, S; Tasic, V; Taylor, C; Topaloglu, R; Smith, A; Karet, F

    2002-01-01

    Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased urinary calcium solubility, and impaired bone physiology and growth. Two types of rdRTA have been differentiated by the presence or absence of sensorineural hearing loss, but appear otherwise clinically similar. Recently, we identified mutations in genes encoding two different subunits of the renal α-intercalated cell's apical H+-ATPase that cause rdRTA. Defects in the B1 subunit gene ATP6V1B1, and the a4 subunit gene ATP6V0A4, cause rdRTA with deafness and with preserved hearing, respectively. We have investigated 26 new rdRTA kindreds, of which 23 are consanguineous. Linkage analysis of seven novel SNPs and five polymorphic markers in, and tightly linked to, ATP6V1B1 and ATP6V0A4 suggested that four families do not link to either locus, providing strong evidence for additional genetic heterogeneity. In ATP6V1B1, one novel and five previously reported mutations were found in 10 kindreds. In 12 ATP6V0A4 kindreds, seven of 10 mutations were novel. A further nine novel ATP6V0A4 mutations were found in "sporadic" cases. The previously reported association between ATP6V1B1 defects and severe hearing loss in childhood was maintained. However, several patients with ATP6V0A4 mutations have developed hearing loss, usually in young adulthood. We show here that ATP6V0A4 is expressed within the human inner ear. These findings provide further evidence for genetic heterogeneity in rdRTA, extend the spectrum of disease causing mutations in ATP6V1B1 and ATP6V0A4, and show ATP6V0A4 expression within the cochlea for the first time. PMID:12414817

  3. Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).

    PubMed

    Duggan, D J; Manchester, D; Stears, K P; Mathews, D J; Hart, C; Hoffman, E P

    1997-05-01

    The dystrophin-based membrane cytoskeleton of muscle fibers has emerged as a critical multi-protein complex which seems to impart structural integrity on the muscle fiber plasma membrane. Deficiency of dystrophin causes the most common types of muscular dystrophy, Duchenne and Becker muscular dystrophies. Muscular dystrophy patients showing normal dystrophin protein and gene analysis are generally isolated cases with a presumed autosomal recessive inheritance pattern (limb-girdle muscular dystrophy). Recently, linkage and candidate gene analyses have shown that some cases of limb-girdle muscular dystrophy can be caused by deficiency of other components of the dystrophin membrane cytoskeleton. The most recently identified component, delta-sarcoglycan, has been found to show mutations in a series of Brazilian muscular dystrophy patients. All patients were homozygous for a protein-truncating carboxy-terminal mutation, and showed a deficiency of the four sarcoglycan proteins. To determine if delta-sarcoglycan deficiency occurred in other world populations, to identify the range of mutations and clinical phenotypes, and to test for the biochemical consequences of delta-sarcoglycan gene mutations, we studied Duchenne-like and limb-girdle muscular dystrophy patients who we had previously shown not to exhibit gene mutations of dystrophin, alpha-, beta-, or gamma-sarcoglycan for delta-sarcoglycan mutations (n = 54). We identified two American patients with novel nonsense mutations of delta-sarcoglycan (W30X, R165X). One was apparently homozygous, and we show likely consanguinity through homozygosity for 13 microsatellite loci covering a 38 cM region of chromosome 5. The second was heterozygous. Both were girls who showed clinical symptoms consistent with Duchenne muscular dystrophy in males. Our data shows that delta-sarcoglycan deficiency occurs in other world populations, and that most or all patients show a deficiency of the entire sarcoglycan complex, adding support to

  4. Photogrammetric recession measurements of ablative materials in arcjets

    NASA Astrophysics Data System (ADS)

    Schairer, Edward T.; Heineck, James T.

    2010-02-01

    This paper describes an optical method for measuring the recession time histories of ablative thermal protection system (TPS) materials as they are tested in an arcjet facility. The method is non-intrusive and requires no external light source or modifications to the test article. It does require, first, a test article that exhibits texture as it ablates, and, second, high-resolution video images of the ablating surface from at least two directions. Software automatically reads the sequences of images and, by successive image cross correlation, tracks the deformation of a surface grid that conforms to the shape of the test article. Standard photogrammetric transformations are used to convert image-plane displacements of the surface grid to object-space displacements. The method yields a time history of the displacement of each node of the grid for the full time that the test article is exposed to the arcjet flow. Measurements have been made during many tests in the 60 MW arcjet at NASA Ames Research Center, including tests of TPS materials for the Orion Crew Exploration Vehicle and Mars Science Laboratory. The photogrammetric recession measurements have been in good agreement with post-test measurements of the change in thickness of the test articles.

  5. Tag, catch, and other unnatural acts at recess (Circa 2014).

    PubMed

    Sydnor, Synthia

    2014-03-01

    This commentary details a news event in which Carrie Weber Middle School in Port Washington, NY, supposedly banned students from using balls, playing tag, and doing cartwheels during recess. Public reaction in the form of news items, tweets, blogs, and commentary is sampled, and news releases from the Weber Middle School that were barely covered by the media and explain their decision to ban hardballs from 20-min recess are brought to light. The commentary then goes on to argue that such trending news events can be interpreted in terms of complex cultural histories, including in the case of Weber Middle School, much intellectual thought pioneered by human movement scholarship. Ideas about social nostalgia and memory, play, hegemony, invention of tradition, and cultural context are overviewed in light of their use in human movement studies and in interpreting the Weber Middle School issue. It is argued that current issues and initiatives surrounding obesity and sport for peace and development are, like the trending Weber Middle School news, sometimes not mapped or critiqued (terms coined by Markula-Denison and Silk in 2011) in the profound ways that cultural studies urge. The commentary ends in a call to scholars and practitioners of human movement studies for self-reflexivity and purposeful awareness of changing social definitions of the "unnatural."

  6. Gingival recession: its causes and types, and the importance of orthodontic treatment

    PubMed Central

    Jati, Ana Suzy; Furquim, Laurindo Zanco; Consolaro, Alberto

    2016-01-01

    abstract Gingival recession has direct causes and predisposing factors. Orthodontic treatment is able to prevent recession and even contribute to its treatment, with or without periodontal approach, depending on the type and severity of gingival tissue damage. There is no evidence on the fact that orthodontic treatment alone might induce gingival recession, although it might lead the affected teeth (usually mandibular incisors or maxillary canines) to be involved in situations that act as predisposing factors, allowing direct causes to act and, therefore, trigger recession, especially when the buccal bone plate is very thin or presents with dehiscence. Several aspects regarding the relationship between orthodontic treatment and gingival recession have been addressed, and so has the importance of the periosteum to the mechanism of gingival recession formation. Clinical as well as experimental trials on the subject would help to clarify this matter, of which understanding is not very deep in the related literature. PMID:27409650

  7. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

    PubMed

    Boone, Philip M; Campbell, Ian M; Baggett, Brett C; Soens, Zachry T; Rao, Mitchell M; Hixson, Patricia M; Patel, Ankita; Bi, Weimin; Cheung, Sau Wai; Lalani, Seema R; Beaudet, Arthur L; Stankiewicz, Pawel; Shaw, Chad A; Lupski, James R

    2013-09-01

    Over 1200 recessive disease genes have been described in humans. The prevalence, allelic architecture, and per-genome load of pathogenic alleles in these genes remain to be fully elucidated, as does the contribution of DNA copy-number variants (CNVs) to carrier status and recessive disease. We mined CNV data from 21,470 individuals obtained by array-comparative genomic hybridization in a clinical diagnostic setting to identify deletions encompassing or disrupting recessive disease genes. We identified 3212 heterozygous potential carrier deletions affecting 419 unique recessive disease genes. Deletion frequency of these genes ranged from one occurrence to 1.5%. When compared with recessive disease genes never deleted in our cohort, the 419 recessive disease genes affected by at least one carrier deletion were longer and located farther from known dominant disease genes, suggesting that the formation and/or prevalence of carrier CNVs may be affected by both local and adjacent genomic features and by selection. Some subjects had multiple carrier CNVs (307 subjects) and/or carrier deletions encompassing more than one recessive disease gene (206 deletions). Heterozygous deletions spanning multiple recessive disease genes may confer carrier status for multiple single-gene disorders, for complex syndromes resulting from the combination of two or more recessive conditions, or may potentially cause clinical phenotypes due to a multiply heterozygous state. In addition to carrier mutations, we identified homozygous and hemizygous deletions potentially causative for recessive disease. We provide further evidence that CNVs contribute to the allelic architecture of both carrier and recessive disease-causing mutations. Thus, a complete recessive carrier screening method or diagnostic test should detect CNV alleles.

  8. Identification and functional characterization of natural human melanocortin 1 receptor (MC1R) mutant alleles in Pakistani population

    PubMed Central

    Shahzad, Mohsin; Sires Campos, Julia; Tariq, Nabeela; Herraiz Serrano, Cecilia; Yousaf, Rizwan; Jiménez-Cervantes, Celia; Yousaf, Sairah; Waryah, Yar M.; Dad, Haseeb A.; Blue, Elizabeth M.; Sobreira, Nara; López-Giráldez, Francesc; Kausar, Tasleem; Ali, Muhammad; Waryah, Ali M.; Riazuddin, Saima; Shaikh, Rehan S.; García-Borrón, José Carlos; Ahmed, Zubair M.

    2015-01-01

    Summary Melanocortin 1 receptor (MC1R), a Gs protein-coupled receptor of the melanocyte’s plasma membrane, is a major determinant of skin pigmentation and phototype. Upon activation by α-melanocyte stimulating hormone, MC1R triggers the cAMP cascade to stimulate eumelanogenesis. We used whole exome sequencing to identify causative alleles in Pakistani families with skin and hair hypopigmentation. Six MC1R mutations segregated with the phenotype in seven families, including a p.Val174del in-frame deletion and a p.Tyr298* nonsense mutation that were analyzed for function in heterologous HEK293 cells. p.Tyr298* MC1R showed no agonist-induced signaling to the cAMP or ERK pathways, nor detectable agonist binding. Conversely, signaling was comparable for p.Val174del and wild-type in HEK cells overexpressing the proteins, but binding analysis suggested impaired cell surface expression. Flow cytometry and confocal imaging studies revealed reduced plasma membrane expression of p.Val174del and p.Tyr298*. Therefore p.Tyr298* was a total loss-of-function (LOF) allele, while p.Val174del displayed a partial LOF attribute. PMID:26197705

  9. Pakistani options for resolution of the Kashmir dispute. Master's thesis, 7 Aug 1998--4 Jun 1999

    SciTech Connect

    Hayat, A.M.

    1999-07-01

    The Kashmir problem is the oldest unresolved issue on the UN agenda. The present popular uprising in the Indian-held Kashmir has redeemed a forgotten cause; and the nuclear testing by both India and Pakistan sprung the issue back on the international scene, and without resolving this focal issue, a lasting peace in South Asia will remain elusive. This study deals with the issue from its origin to the present with an effort to analyze the problem impartially and dispassionately to provide an objective understanding of the dispute. However, the conclusions drawn and the options recommended are solely from a Pakistani perspective. The study explains the intricacies of this complex border dispute, which over the years has been elevated to an ideological tug of war between India and Pakistan. All of this in the melee of passion for the disputed land, legal claims, moral ascendancy, and a growing Kashmiri nationalism, not to mention the fast changing international backdrop. The paper promotes a fresh approach for Pakistan in order to engage India in a meaningful dialogue on the issue and to involve the international community to fulfill its obligation. The Kashmiri nationalism has emerged as a potent third party to the dispute and thus is addressed. A multipronged approach for Pakistan has been proposed on the covert unilateral and overt bilateral and multilateral planes in order to work on all possible facets of the problem.

  10. Bilateral Moyamoya Disease in a 2-Year-Old Pakistani Male Treated with Bilateral Encephaloduroarteriosynangiosis: A Positive Outcome

    PubMed Central

    Khoja, Adeel; Rameez, Mansoor Ali Merchant; Khan, Ariba; Ishaque, Noman

    2016-01-01

    Background. We present a rare case of bilateral moyamoya disease presenting as multiple strokes and neurological deficits, treated with the neurosurgical procedure, encephaloduroarteriosynangiosis (EDAS), in a 2-year-old male Pakistani minor. A positive outcome was achieved and the patient recovered fully. Case Summary. Our patient presented with a history of seizures and multiple episodes of hemiparesis (on and off weakness) at the age of 2 years. He had a delayed speech development and could not speak more than a few words. He had a slight slurring of speech too. He was diagnosed with bilateral moyamoya disease on Computed Tomography Angiography (CTA). Bilateral EDAS was done in the same year, after which his symptoms improved and patient had moderate functional recovery. Conclusion. A rare disease, moyamoya has been left unexplored in Pakistan; physicians and surgeons when dealing with cases in the pediatric population presenting with symptoms of stroke, signs of generalized weakness, and seizures should consider moyamoya disease as a possibility. Furthermore, this case demonstrates the effectiveness of EDAS procedure for the treatment of moyamoya disease. PMID:28101388

  11. Bilateral Moyamoya Disease in a 2-Year-Old Pakistani Male Treated with Bilateral Encephaloduroarteriosynangiosis: A Positive Outcome.

    PubMed

    Magsi, Shahvaiz; Khoja, Adeel; Rameez, Mansoor Ali Merchant; Khan, Ariba; Ishaque, Noman

    2016-01-01

    Background. We present a rare case of bilateral moyamoya disease presenting as multiple strokes and neurological deficits, treated with the neurosurgical procedure, encephaloduroarteriosynangiosis (EDAS), in a 2-year-old male Pakistani minor. A positive outcome was achieved and the patient recovered fully. Case Summary. Our patient presented with a history of seizures and multiple episodes of hemiparesis (on and off weakness) at the age of 2 years. He had a delayed speech development and could not speak more than a few words. He had a slight slurring of speech too. He was diagnosed with bilateral moyamoya disease on Computed Tomography Angiography (CTA). Bilateral EDAS was done in the same year, after which his symptoms improved and patient had moderate functional recovery. Conclusion. A rare disease, moyamoya has been left unexplored in Pakistan; physicians and surgeons when dealing with cases in the pediatric population presenting with symptoms of stroke, signs of generalized weakness, and seizures should consider moyamoya disease as a possibility. Furthermore, this case demonstrates the effectiveness of EDAS procedure for the treatment of moyamoya disease.

  12. Influences of religion and culture on continuing bonds in a sample of British Muslims of Pakistani origin.

    PubMed

    Hussein, Hanan; Oyebode, Jan R

    2009-11-01

    This study considered the nature of continuing bonds with deceased relatives in a sample of Pakistani Muslims living in the United Kingdom. Ten participants were interviewed following a cultural psychology approach and transcripts were analyzed using grounded theory methodology. Dreaming, talking with others about the deceased, following the deceased's example, keeping memories and mementos, and doing actions thought to help the deceased were forms of continued relationship found. These were intertwined with the process of grieving and were influenced by the family, culture, and religion. Religion was a strong influence on the prominence given by participants to finishing well and on the notion of doing actions thought to help the deceased. Cultural mores, such as the community, and collectivist ethos and the expectation that emotion would be expressed around the time of death, were found to be supportive for some but sources of tension for other participants. Expressing a continuing bond through following the deceased's example so as to make them proud or happy seemed to be reinforced by cultural roots in respect for elders. Participants gave instances of tensions in areas such as expression of emotion and communality versus individualism that arose as a result of their position between two cultural frameworks, some illustrating how assimilation into the host culture set up conflict with the expected norms of their family/ancestral culture. The study highlights how understanding different cultural and religious influences may enrich the concept of continuing bonds.

  13. Determination of Aflatoxin M1 and Heavy Metals in Infant Formula Milk Brands Available in Pakistani Markets

    PubMed Central

    Akhtar, Saeed; Shahzad, Muhammad Arif; Yoo, Sang-Ho; Ismail, Amir; Hameed, Aneela; Ismail, Tariq; Riaz, Muhammad

    2017-01-01

    Aflatoxin M1 (AFM1) after its bioconversion from aflatoxin B1 in animal liver becomes the part of milk while heavy metals get entry into milk and milk products during handling in the supply chain. Aflatoxin M1 and heavy metals being toxic compounds are needed to be monitored continuously to avoid any ailments among consumers of foods contaminated with such toxicants. Thirteen commercially available infant formula milk (IFM) brands available in Pakistani markets were analyzed for the quantitative determination of AFM1 and heavy metals through ELISA and atomic absorption spectrophotometer, respectively. AFM1 was found positive in 53.84% samples while 30.76% samples were found exceeding the maximum EU limit i.e. 0.025 μg/kg for AFM1 in IFM. Heavy metals lead (Pb) and cadmium (Cd) were found below the detection limits in any of the sample, whereas the concentrations of iron (Fe), zinc (Zn) and nickel (Ni) ranged between 45.40-97.10, 29.72-113.50 and <0.001-50.90 μg/kg, respectively. The concentration of Fe in all the tested brands was found in normal ranges while the concentrations of Zn and Ni were found exceeding the standard norms. Elevated levels of AFM1, Zn and Ni in some of the tested IFM brands indicated that a diet completely based on these IFM brands might pose sever health implications in the most vulnerable community i.e., infants. PMID:28316474

  14. Laboratory Evaluation of Seven Pakistani Strains of Entomopathogenic Nematodes Against a Stored Grain Insect Pest, Pulse beetle Callosobruchus chinensis (L.)

    PubMed Central

    Javed, Salma

    2009-01-01

    Seven Pakistani strains of entomopathogenic nematodes belonging to the genera Steinernema and Heterorhabditis were tested against last instar and adult stages of the pulse beetle, Callosobruchus chinensis (L.). These nematodes included Steinernema pakistanense Shahina, Anis, Reid and Maqbool (Ham 10 strain); S. asiaticum Anis, Shahina, Reid and Rowe (211 strain); S. abbasi Elawad, Ahmad and Reid (507 strain); S. siamkayai Stock, Somsook and Reid (157 strain); S. feltiae Filipjev (A05 strains); Heterorhabditis bacteriophora Poinar (1743 strain); and H. indica Poinar, Karunakar and David (HAM-64 strain). Activity of all strains was determined at four different nematode densities in Petri dishes and in concrete containers. A significant nematode density effect was detected for all nematode species tested. Overall, Heterorhabditis bacteriophora, S. siamkayai, and S. pakistanense were among those that showed the highest virulence to pulse beetle larvae and adults. For all nematode species, the last larval stage of the pulse beetle seems to be more susceptible than the adult. LC50 values in Petri dish and concrete containers were 14-340 IJs/larvae and 41-441 IJs/larvae, respectively, and 59-1376 IJs/adult and 170-684/adult, respectively. PMID:22736823

  15. Evaluation of a cross-cultural training program for Pakistani educators: Lessons learned and implications for program planning.

    PubMed

    Mazur, Rebecca; Woodland, Rebecca H

    2017-02-20

    In this paper, we share the results of a summative evaluation of PEILI, a US-based adult professional development/training program for secondary school Pakistani teachers. The evaluation was guided by the theories of cultural competence (American Psychological Association, 2003; Bamberger, 1999; Wadsworth, 2001) and established frameworks for the evaluation of professional development/training and instructional design (Bennett, 1975; Guskey, 2002; King, 2014; Kirkpatrick, 1967). The explicit and implicit stakeholder assumptions about the connections between program resources, activities, outputs, and outcomes are described. Participant knowledge and skills were measured via scores on a pre/posttest of professional knowledge, and a standards-based performance assessment rubric. In addition to measuring short-term program outcomes, we also sought to incorporate theory-driven thinking into the evaluation design. Hence, we examined participant self-efficacy and access to social capital, two evidenced-based determinants or "levers" that theoretically explain the transformative space between an intervention and its outcomes (Chen, 2012). Data about program determinants were collected and analyzed through a pre/posttest of self-efficacy and social network analysis. Key evaluation findings include participant acquisition of new instructional skills, increased self-efficacy, and the formation of a nascent professional support network. Lessons learned and implications for the design and evaluation of cross-cultural teacher professional development programs are discussed.

  16. Convergence excess esotropia treated surgically with fadenoperation and medical rectus muscle recessions.

    PubMed

    Leitch, R J; Burke, J P; Strachan, I M

    1990-05-01

    Convergence excess esotropia has been treated with bifocals, miotics, medial rectus recession(s), fadenoperation, or a combination of these. However, comparatively few studies on the sensory status of these patients exist. We present the sensory findings in 31 children treated surgically. Twenty-one had fadenoperations combined with bimedial rectus recessions, one had a fadenoperation alone, and nine had augmented bimedial rectus recessions. Five children (16%) achieved bifoveal fusion, 22 (71%) had varying degrees of peripheral fusion, and four (13%) had no detectable binocularity after a mean postoperative follow-up of 2.4 years.

  17. Comparison of Postoperative Exodrift after First Unilateral and Second Contralateral Lateral Rectus Recession in Recurrent Exotropia

    PubMed Central

    Kim, Eun Yeong; Kim, Hyun Kyung; Lee, Se Youp

    2016-01-01

    Purpose To compare postoperative exodrift of the first unilateral lateral rectus (ULR) muscle recession with the exodrift of the second contralateral ULR muscle recession in patients with recurrent small-angle exotropia (XT). Methods We evaluated the results of a second ULR muscle recession in 19 patients with recurrent XT with deviation angles under 25 prism diopter (PD), following a first procedure of ULR muscle recession for small-angle XT. Recession of the lateral rectus muscle ranged from 8 to 9 mm. The postoperative motor alignment and degree of exodrift were investigated after the first ULR muscle recession and the second ULR muscle recession in the same patients. Results Observed differences in postoperative ocular alignment between the first ULR muscle recession and the second ULR muscle recession were statistically significant at follow-up periods of six months (7.84 ± 4.43 vs. 3.89 ± 3.47 PD), one year (9.58 ± 4.97 vs. 5.21 ± 4.94 PD), and at a final follow-up (21.11 ± 2.98 vs. 7.52 ± 4.06 PD) after surgery (p = 0.006, 0.013, and 0.000). Postoperative exodrift was statistically different between the first and second ULR muscle recessions at three to six months (2.89 ±3.75 vs. 0.63 ± 3.45 PD) and one year to final follow-up (11.52 ± 5.50 vs. 2.32 ± 3.53 PD) (p = 0.034 and 0.000). All of the first ULR muscle recession patients showed XT with deviation angles of more than 15 PD at the final follow-up. Regardless, the surgical success rate (<8 PD) after the second ULR recession was 63.16% (12 patients) among the total amount of patients with recurrent XT. Conclusions This study shows that changes in exodrift after a second ULR muscle recession are less than changes after the first URL muscle recession among patients with recurrent XT. A second ULR muscle recession may be a useful surgery for small-angle XT patients with deviation angles of 25 PD or less after a first ULR muscle recession. PMID:26865803

  18. Gingival Recession in a Child-Patient; Easily Missed Etiologies: Case Report with Video

    PubMed Central

    Nwhator, SO

    2014-01-01

    Gingival recession is commonly associated with plaque-induced inflammation and calculus. A high frenal attachment is more important in gingival recession in the child-patient. A healthy child-patient with impeccable oral hygiene presented with localized gingival recession without plaque-induced inflammation which led to the exploration of other possible etiologies. Multiple factors appeared to be acting in consonance (Concomitant multiple etiologies [CME]). The factors were a high frenal attachment, traumatic overbite and bruxism induced by premature tooth contacts. Pedodontists and periodontists should rule out CME in cases of gingival recession in the child-patient. PMID:25031899

  19. Treatment of gingival recessions by guided tissue regeneration and coronally advanced flap.

    PubMed

    Banihashemrad, Ali; Aghassizadeh, Ershad; Radvar, Mehrdad

    2009-01-01

    Gingival recession refers to the denudation of root surface caused by apical migration of the gingival margin as a result of destruction of the covering gingival tissue of the affected area. It is among the most frequent problems presented by periodontal patients and may have different etiologies and sequels. So far, several techniques have been devised and tested to treat gingival recession. The aim of this study was to assess the effectiveness of using a GTR resorbable collagen membrane in conjunction with coronally advanced flap (CAF) as compared to CAF alone in the treatment of Miller's Class I & II gingival recessions. Seven patients took part in the study, each providing either two or four facial recessions of 3 mm. to 6 mm., totaling 11 pairs of gingival recessions. The two paired sites within each patient were randomly assigned to one of the two treatments mentioned above. Prior to and six months after treatments, the following clinical parameters were measured and recorded: recession depth; probing pocket depth; clinical attachment level; width of keratinized gingiva; and width of recession. After six months, recession depth showed a mean reduction of 67.88% and 57.42% in the "GTR + CAF" and "CAF alone" groups, respectively. The mean difference between the groups was 1+/-0.33 mm (P=0.03). The results of this study indicate that Miller's Class I & II gingival recessions are amenable to treatment using the GTR technique with satisfactory outcome.

  20. Hardships of the Great Recession and health: Understanding varieties of vulnerability

    PubMed Central

    Kirsch, Julie A; Ryff, Carol D

    2016-01-01

    The Great Recession of 2007–2009 is regarded as the most severe economic downturn since World War II. This study examined relationships between reported recession hardships and physical health in a national survey of American adults (N = 1275). Furthermore, education and psychological resources (perceived control, purpose in life, and conscientiousness) were tested as moderators of the health impacts of the recession. A greater number of hardships predicted poorer health, especially among the less educated. Psychological resources interacted with education and hardships to predict health outcomes. Although typically viewed as protective factors, such resources became vulnerabilities among educationally disadvantaged adults experiencing greater recession hardships. PMID:28070407

  1. Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan

    PubMed Central

    Pedurupillay, Christeen Ramane J.; Landsend, Erlend Christoffer Sommer; Vigeland, Magnus Dehli; Ansar, Muhammad; Frengen, Eirik; Misceo, Doriana; Strømme, Petter

    2016-01-01

    We report on two brothers with visual impairment, and non-syndromic alopecia in the elder proband. The parents were first-degree Pakistani cousins. Whole exome sequencing of the elder brother and parents, followed by Sanger sequencing of all four family members, led to the identification of the variants responsible for the two phenotypes. One variant was a homozygous nonsense variant in the inhibitory subunit of the cone-specific cGMP phosphodiesterase gene, PDE6H:c.35C>G (p.Ser12*). PDE6H is expressed in the cones of the retina, which are involved in perception of color vision. This is the second report of a homozygous PDE6H:c.35C>G variant causing incomplete achromatopsia (OMIM 610024), thus strongly supporting the hypothesis that loss-of-function variants in PDE6H cause this visual deficiency phenotype. The second variant was a homozygous missense substitution in the lysophosphatidic acid receptor 6, LPAR6:c.188A>T (p.Asp63Val). LPAR6 acts as a G-protein-coupled receptor involved in hair growth. Biallelic loss-of-function variants in LPAR6 cause hypotrichosis type 8 (OMIM 278150), with or without woolly hair, a form of non-syndromic alopecia. Biallelic LPAR6:c.188A>T was previously described in five families from Pakistan. PMID:27472364

  2. [The decline in population growth, income distribution, and economic recession].

    PubMed

    Banguero, H

    1983-05-01

    This work uses Keynesian principles and an analysis of the Colombian population in the 1970s to argue that the Colombian policy of slowing population growth, which was adopted with the aim of improving the general welfare of the population, has had shortterm negative effects on effective demand and thus on the level of employment and welfare. These negative effects were caused by the inflexibility of income distribution, which prevented expansion of the internal market, complicated by the stagnant condition of the external sector and the budget deficit. The results of the Colombian case study demonstrate how the deceleration of population growth beginning in the 1960s had a significant impact on the levels of consumption and savings and on the patterns of consumption, leading to low levels of investment and little dynamism. Although the current Colombian economic recession is aggravated by contextual factors such as the world economic recession, the high cost of capital, the industrial recession, and declining food production among others, at the core of the crisis are longer term structural determinants such as the decline in the rate of population growth and the highly unequal distribution of income and wealth, which have contributed to a shrinking of the internal market for some types of goods. Given the unlikelihood of renewed rapid population growth, the Keynesian model suggests that the only alternative for increasing aggregate demand is state intervention through public spending and investment and reorientation of the financial system to achieve a dynamic redistribution of income. Based on these findings and on proposals of other analysts, a stragegy for revitalization is proposed which would imply a gradual income redistribution to allow increased consumption of mass produced goods by the low income groups. Direct consumption subsidies would be avoided because of their inflationary and import-expanding tendencies; rather, incentives and support would be

  3. The Great Recession and the Social Safety Net

    PubMed Central

    Moffitt, Robert A.

    2016-01-01

    The social safety net responded in significant and favorable ways during the Great Recession. Aggregate per capita expenditures grew significantly, with particularly strong growth in the SNAP, EITC, UI, and Medicaid programs. Distributionally, the increase in transfers was widely shared across demographic groups, including families with and without children, single-parent and two-parent families. Transfers grew as well among families with more employed members and with fewer employed members. However, the increase in transfer amounts was not strongly progressive across income classes within the low-income population, increasingly slightly more for those just below the poverty line and those just above it, compared to those at the bottom of the income distribution. This is mainly the result of the EITC program, which provides greater benefits to those with higher family earnings. The expansions of SNAP and UI benefitted those at the bottom of the income distribution to a greater extent. PMID:27065356

  4. The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis

    PubMed Central

    Nair, Vineet; Mukherjee, Malancha; Ghosh, Sujoy; Dey, Subrata Kumar

    2013-01-01

    Hereditary gingival fibromatosis (HGF) is a rare condition which is marked by enlargement of gingival tissue that covers teeth to various extents leading to aesthetic disfigurement. This study presents a case of a 28-year-old female patient and 18-year-old male who belong to the same family suffering from HGF with chief complaint of overgrowing swelling gingiva. The presence of enlarged gingiva with the same eruption was found in their other family members with no concomitant drug or medical history, and the occurrence of HGF has been found in one generation of this family which may indicate the autosomal recessive inheritance pattern of HGF. Hereditary gingival fibromatosis is an idiopathic condition as its etiology is unknown and it was found to recur in some cases even after surgical treatment. Both patients underwent thorough oral prophylaxis and later surgical therapy to correct the deformity. PMID:24416600

  5. Entering adulthood in a recession tempers later narcissism.

    PubMed

    Bianchi, Emily C

    2014-07-01

    Despite widespread interest in narcissism, relatively little is known about the conditions that encourage or dampen it. Drawing on research showing that macroenvironmental conditions in emerging adulthood can leave a lasting imprint on attitudes and behaviors, I argue that people who enter adulthood during recessions are less likely to be narcissistic later in life than those who come of age in more prosperous times. Using large samples of American adults, Studies 1 and 2 showed that people who entered adulthood during worse economic times endorsed fewer narcissistic items as older adults. Study 3 extended these findings to a behavioral manifestation of narcissism: the relative pay of CEOs. CEOs who came of age in worse economic times paid themselves less relative to other top executives in their firms. These findings suggest that macroenvironmental experiences at a critical life stage can have lasting implications for how unique, special, and deserving people believe themselves to be.

  6. Compact light source performance in recessed type luminaires

    SciTech Connect

    Hammer, E.E.

    1998-11-01

    Photometric comparisons were made with an indoor, recessed, type luminaire using incandescent, high intensity discharge and compact fluorescent lamps. The test results show substantial performance advantages, as expected, for the discharge light sources where the efficacy gains can be in the order for 400% even when including the ballast losses associated with the discharge lamps. The candlepower distribution patterns emerging from these luminaries are also different from those associated with the baseline incandescent lamps, and which are in some ways, even more desirable from a uniformity of illuminance perspective. A section on fluorescent lamp starting is also included which describes a system having excellent starting characteristics in terms of electrode starting temperature (RH/RC technique), proper operating frequency to minimize unwanted IR interactions, and satisfactory current crest factor values to help insure life performance.

  7. Crossover Suppressors and Balanced Recessive Lethals in CAENORHABDITIS ELEGANS

    PubMed Central

    Herman, Robert K.

    1978-01-01

    Two dominant suppressors of crossing over have been identified following X-ray treatment of the small nematode C. elegans. They suppress crossing over in linkage group II (LGII) about 100-fold and 50-fold and are both tightly linked to LGII markers. One, called C1, segregates independently of all other linkage groups and is homozygous fertile. The other is a translocation involving LGII and X. The translocation also suppresses crossing over along the right half of X and is homozygous lethal. C1 has been used as a balancer of LGII recessive lethal and sterile mutations induced by EMS. The frequencies of occurrence of lethals and steriles were approximately equal. Fourteen mutations were assigned to complementation groups and mapped. They tended to map in the same region where LGII visibles are clustered. PMID:631558

  8. Analytical solution for drainage and recession from an unconfined aquifer.

    PubMed

    Liang, Xiuyu; Zhang, You-Kuan

    2012-01-01

    One-dimensional transient groundwater flow from a divide to a river in an unconfined aquifer described by the Boussinesq equation was studied. We derived the analytical solution for the water table recession and drainage change process described with a linearized Boussinesq equation with a physically based initial condition. A method for determining the average water table in the solutions was proposed. It is shown that the solution derived in the form of infinite series can be well approximated with the simplified solution which contains only the leading term of the original solution. The solution and their simplification can be easily evaluated and used by others to study the groundwater flow problems, such as drainage and base flow estimation, in an unconfined aquifer.

  9. Genetic linkage studies in autosomal recessive retinitis pigmentosa

    SciTech Connect

    Mansfield, D.C.; Teague, P.W.; Barber, A.

    1994-09-01

    Autosomal recessive retinitis pigmentosa (arRP) is a severe retinal dystrophy characterized by night blindness, progressive constriction of the visual fields and loss of central vision in the fourth or fifth decades. The frequency of this form of retinitis pigmentosa (RP) varies in different populations. Mutations within the rhodopsin, cyclic GMP phosphodiesterase-{beta} subunit and cGMP-gated channel genes have been reported in some arRP families. The genetic loci responsible for the majority of cases have yet to be identified. Genetic heterogeneity is likely to be extensive. In order to minimize the amount of genetic heterogenity, a set of arRP families was ascertained within the South-Central Sardinian population, in which 81% of families with a known mode of inheritance show an autosomal recessive form of RP. The Sardinian population is an ethnic {open_quotes}outlier{close_quotes}, having remained relatively isolated from mainland and other cultures. Genetic linkage data has been obtained in a set of 11 Sardinian arRP kindreds containing 26 affected members. Under the assumption of genetic homogeneity, no evidence of linkage was found in the arRP kindreds using 195 markers, which excluded 62% of the genome (Z<-2). Positive lod scores were obtained with D14S80 which showed no recombination in a subset of 5 families. Heterogeneity testing using D14S80 and arRP showed no significant evidence of heterogeneity (p=0.18) but evidence of linkage ({chi}{sup 2}=3.64, p=0.028). We are currently screening the neural retina-specific leucine zipper gene (NRL) in 14q11 for mutations as a candidate locus.

  10. Perspectives of UK Pakistani women on their behaviour change to prevent type 2 diabetes: qualitative study using the theory domain framework

    PubMed Central

    Penn, Linda; Dombrowski, Stephan U; Sniehotta, Falko F; White, Martin

    2014-01-01

    Background Type 2 diabetes (T2D) is a debilitating disease, highly prevalent in UK South Asians, and preventable by lifestyle intervention. The ‘New life, New you’ (NLNY) physical activity (PA) and dietary intervention for T2D prevention was culturally adapted to better engage minority ethnic populations and tested for feasibility. Objectives To investigate Pakistani female participants’ perspectives of their behaviour change and of salient intervention features. Setting A community-based 8-week programme of group delivered PA sessions with behavioural counselling and dietary advice, culturally adapted for ethnic minority populations, in an area of socioeconomic deprivation. Participants to NLNY were recruited through screening events in community venues across the town. Participants Interviews were conducted with 20 Pakistani female NLNY participants, aged 26–45 (mean 33.5) years, from different parts of town. Results Within the a priori Theoretical Domains Framework (intentions and goals, reinforcement, knowledge, nature of the activity, social role and identity, social influences, capabilities and skills, regulation and decision, emotion and environment), we identified the importance of social factors relating to participants’ own PA and dietary behaviour change. We also identified cross-cutting themes as collateral benefits of the intervention including participants’ ‘psychological health’; ‘responsibility’ (for others’ health, especially family members included in the new PA and diet regimes) and ‘inclusion’ (an ethos of accommodating differences). Conclusions Our findings suggest that culturally adapted interventions for Pakistani women at risk of T2D, delivered via group PA sessions with counselling and dietary advice, may encourage their PA and dietary behaviour change, and have collateral health and social benefits. The NLNY intervention appeared to be acceptable. We plan to evaluate recruitment, retention and likely effect of the

  11. Promoting smoking cessation in Bangladeshi and Pakistani male adults: design of a pilot cluster randomised controlled trial of trained community smoking cessation workers

    PubMed Central

    2009-01-01

    Background The prevalence of smoking is higher among Pakistani and Bangladeshi males than among the general population. Smokers who receive behavioural support and medication quadruple their chances of stopping smoking, but evidence suggests that these populations do not use National Health Service run stop smoking clinics as frequently as would be expected given their high prevalence of smoking. This study aims to tackle some of the main barriers to use of stop smoking services and adherence to treatment programmes by redesigning service delivery to be more acceptable to these adult male populations. The study compares the effectiveness of trained Pakistani and Bangladeshi smoking cessation workers operating in an outreach capacity ('clinic + outreach') with standard care ('clinic only') to improve access to and success of National Health Service smoking cessation services. Methods/design This is a pilot cluster randomised controlled trial based in Birmingham, UK. Super output areas of Birmingham will be identified in which more than 10% of the population are of Pakistani and/or Bangladeshi origin. From these areas, 'natural geographical communities' will be identified. Sixteen aggregated agglomerations of super output areas will be identified, separating areas from each other using buffer regions in order to reduce potential contamination. These natural communities will be randomised to 'clinic + outreach' (intervention) or 'clinic only' (control) arms. The use of stop smoking services and the numbers of people quitting smoking (defined as prolonged self-reported abstinence at four weeks, three months and six months) will be assessed in each area. In addition, we will assess the impact of the intervention on adherence to smoking cessation treatments and patient satisfaction. Trial registration Current Controlled Trials ISRCTN 82127540. PMID:19682374

  12. Recess before Lunch Programs in Elementary Schools: Perceptions and Practices of School Professionals

    ERIC Educational Resources Information Center

    Bounds, Wendy; Nettles, Mary Frances; Johnson, James T.

    2009-01-01

    Purpose/Objectives: The objectives of this study were to examine the perceptions of school nutrition directors, principals/assistant principals, and teachers regarding issues important to consider when scheduling recess in relation to lunch, and to describe practices related to successfully implementing a recess before lunch program. Methods: A…

  13. Weathering the Storm: Generating Revenues for Higher Education during a Recession.

    ERIC Educational Resources Information Center

    Toutkoushian, Robert K.

    2003-01-01

    Reviews some recent financial trends in higher education and provides a brief overview of the current recession in the United States. Offers some views on how this recession might affect the major revenue sources that institutions of higher education rely on to fund their operations. (SLD)

  14. The Recession's Ongoing Impact on America's Children: Indicators of Children's Economic Well-Being through 2011

    ERIC Educational Resources Information Center

    Isaacs, Julia B.

    2011-01-01

    Children throughout the United States continue to be negatively impacted by the lingering effects of the Great Recession, with children in some states more hard hit than others. The impact of the recession on children can be hard to see. Some economic statistics ignore children, while others come out with a long time delay. This updated issue…

  15. Playground Designs to Increase Physical Activity Levels during School Recess: A Systematic Review

    ERIC Educational Resources Information Center

    Escalante, Yolanda; García-Hermoso, Antonio; Backx, Karianne; Saavedra, Jose M.

    2014-01-01

    School recess provides a major opportunity to increase children's physical activity levels. Various studies have described strategies to increase levels of physical activity. The purpose of this systematic review is therefore to examine the interventions proposed as forms of increasing children's physical activity levels during recess. A…

  16. Understanding Factors Associated with Children's Motivation to Engage in Recess-Time Physical Activity

    ERIC Educational Resources Information Center

    Efrat, Merav W.

    2016-01-01

    Physical activity is linked with health and academic benefits. While recess provides the greatest opportunity for children to accumulate physical activity, most children are not motivated to engage in sufficient amounts of physical activity during recess. Research demonstrates a strong relationship between self-efficacy and children's motivation…

  17. A Case Study of Teachers' Recess Practices Related to Students with Exceptional Learning Needs

    ERIC Educational Resources Information Center

    Campbell, Andrea E.

    2012-01-01

    Appropriate recess time for young students is an agent for healthy growth, development, and academic performance. Recess time for young students is dissipating due to increased pressure for higher test scores, problematic behaviors on the playground, and its inclusion within classroom discipline policies. Researchers have reported the majority…

  18. The Effects of Four Decades of Recession on Higher Education Enrollments in the United States

    ERIC Educational Resources Information Center

    Wright, Dianne A.; Ramdin, Gianna; Vásquez-Colina, María D.

    2013-01-01

    The United States experienced six economic recessions between 1970 and 2009. The impact of economic recession on higher education enrollment was examined using seasonally adjusted data from the U.S. Census and the U.S. Department of Labor Bureau of Labor Statistics, Unemployment Level-Civilian Labor Force. One-way analysis of variance, factorial…

  19. Responding to Recession: IT Funding and Cost Management in Higher Education. Key Findings

    ERIC Educational Resources Information Center

    Goldstein, Philip J.

    2010-01-01

    This document presents the key findings from "Responding to Recession: IT Funding and Cost Management in Higher Education", the 2010 ECAR (EDUCAUSE Center for Applied Research) study of how the economic recession is impacting information technology (IT) organizations and operations in higher education. The study was designed to address the…

  20. National Postsecondary Enrollment Trends: Before, during, and after the Great Recession. Signature[TM] Report 1

    ERIC Educational Resources Information Center

    Dunbar, Afet; Hossler, Don; Shapiro, Doug; Chen, Jin; Martin, Sarah; Torres, Vasti; Zerquera, Desiree; Ziskin, Mary

    2011-01-01

    This report, "National Postsecondary Enrollment Trends: Before, During, and After the Great Recession," brings to light emerging national and regional patterns among traditional-age, first-time students enrolling in colleges and universities during the fall term each year from 2006 through 2010--before, during, and after the recession.…

  1. Parental Employment Status and Symptoms of Children Abused during a Recession

    ERIC Educational Resources Information Center

    Tobey, Trina; McAuliff, Kathleen; Rocha, Celina

    2013-01-01

    Incidences and severity of child abuse have increased since the start of the recession. This study examined the relationship between employment status and severity of symptoms in children abused during a recession year. Participants included 154 females and 65 males between 2 and 17 years old referred to Dallas Children's Advocacy Center after…

  2. Is School Community Readiness Related to Physical Activity before and after the Ready for Recess Intervention?

    ERIC Educational Resources Information Center

    Ehlers, Diane K.; Huberty, Jennifer L.; Beseler, Cheryl L.

    2013-01-01

    The purpose of this study was to determine: (i) the effect of schools' baseline community readiness (CR) on youth physical activity (PA) at recess prior to the Ready for Recess intervention; (ii) if changes in PA due to the intervention were explained by baseline CR and (iii) if specific components of the intervention altered an association…

  3. Influence of School Playground Size and Equipment on the Physical Activity of Students during Recess

    ERIC Educational Resources Information Center

    Delidou, Eleni; Matsouka, Ourania; Nikolaidis, Christos

    2016-01-01

    Children's physical activity (PA) is increasingly restricted by the fast pace of modern life. Schools are the opportune setting in which to increase PA during daily recess. The purpose of this study was to record the degree of PA of 6th grade primary school students during recess and determine whether the playground size and available equipment…

  4. Scheduling Recess before Lunch: Exploring the Benefits and Challenges in Montana Schools

    ERIC Educational Resources Information Center

    Bark, Katie; Stenberg, Molly; Sutherland, Shelly; Hayes, Dayle

    2010-01-01

    Purpose/Objectives: The purpose of the "Montana Recess Before Lunch Survey" was to explore benefits, challenges, and factors associated with successful implementation of Recess Before Lunch (RBL), from the perspective of school principals. Methods: An online written questionnaire was distributed to all (N = 661) Montana elementary and…

  5. The Impact of Playworks on Boys' and Girls' Physical Activity during Recess

    ERIC Educational Resources Information Center

    Bleeker, Martha; Beyler, Nicholas; James-Burdumy, Susanne; Fortson, Jane

    2015-01-01

    Background: School-based programs, such as Playworks, that guide students in organized activities during recess and make improvements to the recess play yard may lead to significant increases in physical activity--especially for girls. This study builds on past research by investigating the impact of Playworks separately for girls and boys.…

  6. Recession, Retrenchment, and Recovery: State Higher Education Funding & Student Financial Aid

    ERIC Educational Resources Information Center

    Hodel, Ross; Laffey, Maureen; Lingenfelter, Paul

    2006-01-01

    The Recession, Retrenchment, and Recovery Project examined the effects of recessions on financial access to college during the 25-year period 1979-2004, identified states that have been relatively successful in maintaining financial access, and collected policy strategies used by these states. This study examined the similarities and differences…

  7. Recession, Retrenchment, and Recovery: State Higher Education Funding & Student Financial Aid. Volume II: State Profiles

    ERIC Educational Resources Information Center

    Ambrose, Allison S.; Hines, Edward R.; Hodel, Ross A.; Kelly, Kathleen F.; Mushrush, Christopher E., Pruden, Sheila J.; Vogt, W. Paul

    2006-01-01

    This report is a companion to "Recession, Retrenchment and Recovery: Higher Education Funding and Student Financial Aid" (ED502180). It provides profiles of individual states and their performance on a variety of measures used in the economic and fiscal analysis of the Recession, Retrenchment and Recovery project. The profiles describe the results…

  8. The State of Play: Gallup Survey of Principals on School Recess

    ERIC Educational Resources Information Center

    Robert Wood Johnson Foundation, 2010

    2010-01-01

    When most people talk about how to improve education, they tend to focus only on what happens in the classroom. But the most unexpected opportunity to boost learning lies outside the classroom: on the playground at recess. A new, first-of-its-kind Gallup poll reveals that elementary school principals overwhelmingly believe recess has a positive…

  9. Museums and Other Nonprofits in the Current Recession: A Story of Resilience, Innovation, and Survival

    ERIC Educational Resources Information Center

    Geller, Stephanie Lessans; Salamon, Lester M.

    2010-01-01

    This article presents the results of a nationwide survey conducted in the spring of 2009 that examined the impacts of the current recession on nonprofit organizations, including museums. The survey identified a host of negative effects that nonprofits have been experiencing as a result of the recession, including reduced organizational revenues,…

  10. The Impact of the Recession on Public Library Use in Colorado: A Closer Look

    ERIC Educational Resources Information Center

    Lance, Keith Curry; Hofschire, Linda; Daisey, Jamie

    2011-01-01

    This report shares the statistical trends for public library use in Colorado before and since the onset of the latest recession. It also includes the voices of librarians from around the state, offering their observations and stories of how public libraries are helping in these difficult times. To determine the impact of the Great Recession on use…

  11. Is Recess an Achievement Context? An Application of Expectancy-Value Theory to Playground Choices

    ERIC Educational Resources Information Center

    Spencer-Cavaliere, Nancy; Dunn, Janice Causgrove; Watkinson, E. Jane

    2009-01-01

    This study investigated the application of an expectancy-value model to children's activity choices on the playground at recess. The purpose was to test the prediction that expectancies for success and subjective task values are related to decisions to engage in specific recess activities such as climbing, playing soccer, or skipping rope.…

  12. Rocky coast processes: with special reference to the recession of soft rock cliffs

    PubMed Central

    SUNAMURA, Tsuguo

    2015-01-01

    Substantial progress in research on the recession of coastal cliffs composed of soft materials has been made in recent years and data with higher accuracy have been accumulated. This paper provides the state of the art review in the recession studies and highlights two new findings obtained from the reanalysis of existing data. The review topics are: episodic and localized nature of cliff recession; the development of cliffline; the relationship between cliff height and recession rate; mechanisms of cliff toe erosion by waves; a fundamental equation for wave-induced toe erosion; factors controlling toe erosion; and slope instabilities and mass movements. The findings are presented on (1) the temporal change in cliffline recession mode and (2) the effect of beach sediment at the cliff base on the cliff erosion. PMID:26568322

  13. “United Pedicle Flap” for management of multiple gingival recessions

    PubMed Central

    Chopra, Aditi; Sivaraman, Karthik; Bhat, Subraya Giliyar

    2016-01-01

    Numerous surgical procedures have evolved and are being modified with time to treat gingival recession by manipulating gingival or mucosal tissues in various ways. However, the decision to choose the most appropriate technique for a given recession site still remains a challenging task for clinicians. Mucogingival deformities such as shallow vestibule, frenal pull, or inadequate attached gingiva complicate the decision and limit the treatment options to an invasive procedure involving soft tissue grafts. The situation is further comprised if there is a nonavailability of adequate donor tissue and patients' unwillingness for procedures involving a second surgical site. In such situations, the recession either remains untreated or has poor treatment outcomes. This case report presents a modified pedicle graft technique for treatment of multiple gingival recessions with shallow vestibule and inadequate attached gingiva. The technique is a promising therapeutic alternative to invasive surgical procedures such as soft tissue grafts for treatment of multiple gingival recessions. PMID:27563212

  14. Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases

    PubMed Central

    Kingsmore, Stephen

    2012-01-01

    Of 7,028 disorders with suspected Mendelian inheritance, 1,139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~18% of pediatric hospitalizations. Molecular diagnostic testing is currently available for only ~300 recessive disorders. Preconception screening, together with genetic counseling of carriers, has resulted in remarkable declines in the incidence of several severe recessive diseases including Tay-Sachs disease and cystic fibrosis. However, extension of preconception screening and molecular diagnostic testing to most recessive disease genes has hitherto been impractical. Recently, we reported a preconception carrier screen / molecular diagnostic test for 448 recessive childhood diseases. The current status of this test is reviewed here. Currently, this reports analytical validity of the comprehensive carrier test. As the clinical validity and clinical utility in the contexts described is ascertained, this article will be updated. PMID:22872815

  15. In-vitro sensitivity of Pakistani Leishmania tropica field isolate against buparvaquone in comparison to standard anti-leishmanial drugs.

    PubMed

    Jamal, Qaisar; Khan, Nazma Habib; Wahid, Sobia; Awan, Mahwish Mustafa; Sutherland, Colin; Shah, Akram

    2015-07-01

    In this study, in vitro anti-leishmanial activity of buparvaquone was evaluated against promastigotes and intracellular amastigotes of Pakistani Leishmania tropica isolate KWH23 in relation to the current standard chemotherapy for leishmaniasis (sodium stibogluconate, sodium stibogluconate, amphotericin B and miltefosine). For buparvaquone, mean % inhibition in intracellular amastigotes at four different concentrations (1.35 µM, 0.51 µM, 0.17 µM and 0.057 µM) was 78%, 44%, 20% and 14% respectively, whereas, against promastigotes it was 89%, 77%, 45% and 35% respectively. IC50 values calculated to estimate the anti-leishmanial activity of buparvaquone against intra-cellular amastigotes and promastigotes was 0.53 µM (95% C.I. = 0.32-0.89) and 0.15 µM (95% C.I. = 0.01-1.84) respectively. Amphotericin B was the most potent in-vitro drug tested, with an IC50 of 0.075 µM (95% C.I. = 0.006-0.907) against promastigotes, and 0.065 µM (95% C.I. = 0.048-0.089) against intra-cellular amastigotes. Amphotericin B was more cytotoxic against THP1 cells, with an IC50 of 0.15 µM (95% C.I. = 0.01-0.95) and an apparent in-vitro therapeutic index of 2.0, than was buparvaquone, with an IC50 of 12.03 µM (95% C.I. = 5.36-26.96) against THP1 cells and a therapeutic index of 80.2. The study proposes that buparvaquone may be further investigated as a candidate drug for treatment of cutaneous leishmaniasis.

  16. A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent

    PubMed Central

    Rauf, Bushra; Irum, Bushra; Kabir, Firoz; Firasat, Sabika; Naeem, Muhammad Asif; Khan, Shaheen N; Husnain, Tayyab; Riazuddin, Sheikh; Akram, Javed; Riazuddin, S Amer

    2016-01-01

    Glaucoma is the second leading cause of blindness, affecting ~65 million people worldwide. We identified and ascertained a large cohort of inbred families with multiple individuals manifesting cardinal symptoms of primary congenital glaucoma (PCG) to investigate the etiology of the disease at a molecular level. Ophthalmic examinations, including slit-lamp microscopy and applanation tonometry, were performed to characterize the causal phenotype and confirm that affected individuals fulfilled the diagnostic criteria for PCG. Subsequently, exclusion analysis was completed with fluorescently labeled short tandem repeat markers, followed by Sanger sequencing to identify pathogenic variants. Exclusion analysis suggested linkage to the CYP1B1 locus, with positive two-point logarithm of odds scores in 23 families, while Sanger sequencing identified a total of 11 variants, including two novel mutations, in 23 families. All mutations segregated with the disease phenotype in their respective families. These included the following seven missense mutations: p.Y81N, p.E229K, p.R368H, p.R390H, p.W434R, p.R444Q and p.R469W, as well as one nonsense mutation, p.Q37*, and three frameshift mutations, p.W246Lfs81*, p.T404Sfs30* and p.P442Qfs15*. In conclusion, we identified a total of 11 mutations, reconfirming the genetic heterogeneity of CYP1B1 in the pathogenesis of PCG. To the best of our knowledge, this is the largest study investigating the contribution of CYP1B1 to the pathogenesis of PCG in the Pakistani population. PMID:27508083

  17. Polymorphism in the IL-8 Gene Promoter and the Risk of Acne Vulgaris in a Pakistani Population.

    PubMed

    Hussain, Sabir; Iqbal, Tahir; Sadiq, Irfan; Feroz, Saima; Shafique Satti, Humayoon

    2015-08-01

    Interleukin-8 (IL-8) is a well-known inflammatory chemokine and suggested to be involved in the development of acne vulgaris. This study investigates IL-8 plasma levels in acne patients and healthy controls and the molecular basis for the regulation of the IL-8 gene in a Pakistani population. Patients with acne vulgaris (n = 264) and healthy individuals (n = 264) were enrolled in this investigation. Plasma IL-8 levels were determined by enzyme-linked immunosorbent assay (ELISA). The genotyping for IL-8 gene was performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Our data showed a statistically significant increase in IL-8 levels from acne patients compared with healthy subjects (154.2 ± 52.1 pg/mL in patients vs. 101.6 ± 33.5 pg/mL in controls, p<0.0001). The IL-8-251T>A (rs4073) polymorphism was significantly higher in patients with acne compared with the control group (p=0.013). There was a significant difference between the T and A alleles from acne cases and controls (odds ratio OR=1.6,95 % CI= 1.16-2.19, p=0.003). Logistic-regression analysis showed that the increased IL-8 levels, and the IL-8-251T>A polymorphism were significantly associated with acne. Our data suggest that the elevated IL-8 levels and the IL-8-251T>A polymorphism may be associated with acne vulgaris in the study population.

  18. TNF-alpha-308G>A polymorphism and the risk of familial CAD in a Pakistani population.

    PubMed

    Hussain, Sabir; Iqbal, Tahir; Javed, Qamar

    2015-01-01

    A case-control and trio-families study was performed to establish a potential association between TNF-alpha gene promoter SNPs at -308 and -238, and occurrence of CAD in a Pakistani population. In the first phase, 150 patients and 150 controls were enrolled in the case-control association study. In the second phase, heritability of susceptible alleles was investigated from 88 trio-families with CAD affected offspring. Biochemical analysis of lipids and hs-CRP was carried out spectrophotometrically, while serum TNF-alpha concentrations were determined by enzyme-linked immunosorbent assay. Genotyping of the TNF-alpha SNPs were determined by PCR-RFLP method. Elevated serum TNF-alpha and hs-CRP were observed from CAD vs. controls (P<0.0001; for both). The evaluation of TNF-alpha-308G>A polymorphism in case-control study revealed that the said SNP was significantly associated with the increased risk of CAD. The findings demonstrated a significant link between the TNF-alpha variant allele A at -308 and CAD (P=0.0035), whereas the -238 SNP was not associated with the disease. Haplotype A-G of the TNF-alpha gene at -308G>A and -238G>A showed higher frequency in the patient group compared with controls (P<0.05). Moreover, data showed preferential transmission of the disease susceptible allele A at TNF-alpha-308 from parent to affected offspring in a trio-family study (P<0.0001). The current research leads to conclusion that the TNF-alpha-308G>A polymorphism is associated with CAD in the study population. Furthermore, for the first time, we showed that the TNF-alpha-308A allele was significantly associated with the familial CAD in our high risk population.

  19. Role of S180L polymorphism in etiology of malaria caused by Plasmodium falciparum in a small group of Pakistani population.

    PubMed

    Nawaz, Syed Kashif; Ahmed, Bisma; Arshad, Najma; Rani, Asima; Rasool, Hamadia; Arshad, Muhammad

    2015-08-19

    The aim of our study was to investigate the role of S180L polymorphism in modulation of acquisition of malaria caused by Plasmodium falciparum in a small group of Pakistani population. A total of 133 individuals including 60 controls and 73 patients of malaria, caused by Plasmodium falciparum, were genotyped using allele-specific PCR. Ninety-two samples successfully demonstrated the PCR amplification results, while forty-one samples could not be genotyped due to failure in PCR amplification. The allele frequency for S180L polymorphism was deviant from Hardy-Weinberg equilibrium (HWE) of the population under observation. Association was found between the observed polymorphism and the occurrence of malaria caused by Plasmodium falciparum (p = 0.01). Chances of malaria caused by Plasmodium falciparum were low in CC genotype carriers in comparison to other genotypes (Odds ratio: 0.3016; 95% CI: 0.124-0.729). The present findings suggest that S180L polymorphism is important in modulating the probability of acquisition of malaria caused by Plasmodium falciparum in Pakistani population. The CC genotype plays a protective role in local population against this type of malaria.

  20. Computational Prediction and Analysis of Envelop Glycoprotein Epitopes of DENV-2 and DENV-3 Pakistani Isolates: A First Step towards Dengue Vaccine Development

    PubMed Central

    Idrees, Muhammad

    2015-01-01

    Dengue fever of tropics is a mosquito transmitted devastating disease caused by dengue virus (DENV). There is no effective vaccine available, so far, against any of its four serotypes (DENV-1, DENV-2, DENV-3, and DENV-4). There is a need for the development of preventive and therapeutic vaccines against DENV to decrease the prevalence of dengue fever, especially in Pakistan. In this research, linear and conformational B-cell epitopes of envelope glycoprotein of DENV-2 and DENV-3 (the most prevalent serotypes in Pakistan) were predicted. We used Kolaskar and Tongaonkar method for linear epitope prediction, Emini’s method for surface accessibility prediction and Karplus and Schulz’s algorithm for flexibility determination. To propose three dimensional epitopes, the E proteins for both serotypes were homology modeled by using Phyre2 V 2.0 server, and ElliPro was used for the prediction of surface epitopes on their globular structure. Total 21 and 19 linear epitopes were predicted for DENV-2 and DENV-3 Pakistani isolates respectively. Whereas, 5 and 4 discontinuous epitopes were proposed for DENV-2 and DENV-3 Pakistani isolates respectively. Moreover, the values of surface accessibility, flexibility and solvent-accessibility can be helpful in analyzing vaccines against DENV-2 and DENV-3. In conclusion, the proposed continuous and discontinuous antigenic peptides can be valuable candidates for diagnostic and therapeutics of DENV. PMID:25775090