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Sample records for recessive pseudohypoaldosteronism type

  1. Mineralocorticoid Receptor Mutations and a Severe Recessive Pseudohypoaldosteronism Type 1

    PubMed Central

    Hubert, Edwige-Ludiwyne; Teissier, Raphaël; Fernandes-Rosa, Fábio L.; Fay, Michel; Rafestin-Oblin, Marie-Edith; Jeunemaitre, Xavier; Metz, Chantal; Escoubet, Brigitte

    2011-01-01

    Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease of mineralocorticoid resistance characterized by salt wasting and failure to thrive in infancy. Here we describe the first case of a newborn with severe recessive PHA1 caused by two heterozygous mutations in NR3C2, gene coding for the mineralocorticoid receptor (MR). Independent segregation of the mutations occurred in the family, with p.Ser166X being transmitted from the affected father and p.Trp806X from the asymptomatic mother Whereas the truncated MR166X protein was degraded, MR806X was expressed both at the mRNA and protein level. Functional studies demonstrated that despite its inability to bind aldosterone, MR806X had partial ligand-independent transcriptional activity. Partial nuclear localization of MR806X in the absence of hormone was identified as a prerequisite to initiate transcription. This exceptional case broadens the spectrum of clinical phenotypes of PHA1 and demonstrates that minimal residual activity of MR is compatible with life. It also suggests that rare hypomorphic NR3C2 alleles may be more common than expected from the prevalence of detected PHA1 cases. This might prove relevant for patient's care in neonatal salt losing disorders and may affect renal salt handling and blood pressure in the general population. PMID:21903996

  2. Genetics Home Reference: pseudohypoaldosteronism type 2

    MedlinePlus

    ... Home Health Conditions pseudohypoaldosteronism type 2 pseudohypoaldosteronism type 2 Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation ...

  3. 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.

  4. Genetics Home Reference: pseudohypoaldosteronism type 1

    MedlinePlus

    ... hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet. 1996 Mar;12(3):248-53. Citation on PubMed Chen ... sgk. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2514-9. Citation on PubMed ...

  5. Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism.

    PubMed

    Sartorato, P; Khaldi, Y; Lapeyraque, A-L; Armanini, D; Kuhnle, U; Salomon, R; Caprio, M; Viengchareun, S; Lombès, M; Zennaro, M-C

    2004-03-31

    Type I pseudohypoaldosteronism (PHA1) is a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive. Typical biochemical features include high levels of plasma aldosterone and renin, hyponatremia and hyperkalemia. Different mutations of the human mineralocorticoid receptor (hMR) gene have been identified in subjects affected by the autosomal dominant or sporadic form of the disease. Our laboratory has investigated a large number of subjects with familial and sporadic PHA1. Several different mutations have been detected, which are localized in different coding exons of the hMR gene. These mutations either create truncated proteins, either affect specific amino acids involved in receptor function. In this paper, we review hMR mutations described to date in PHA1 and their functional characterization. We discuss the absence of mutations in some kindreds and the role of precise phenotypic and biological examination of patients to allow for identification of other genes potentially involved in the disease. PMID:15134810

  6. Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene

    PubMed Central

    Nobel, Yael R; Lodish, Maya B; Raygada, Margarita; Del Rivero, Jaydira; Faucz, Fabio R; Abraham, Smita B; Lyssikatos, Charalampos; Belyavskaya, Elena; Stratakis, Constantine A

    2016-01-01

    Summary Autosomal recessive pseudohypoaldosteronism type 1 (PHA1) is a rare disorder characterized by sodium wasting, failure to thrive, hyperkalemia, hypovolemia and metabolic acidosis. It is due to mutations in the amiloride-sensitive epithelial sodium channel (ENaC) and is characterized by diminished response to aldosterone. Patients may present with life-threatening hyperkalemia, which must be recognized and appropriately treated. A 32-year-old female was referred to the National Institutes of Health (NIH) for evaluation of hyperkalemia and muscle pain. Her condition started in the second week of life, when she was brought to an outside hospital lethargic and unresponsive. At that time, she was hypovolemic, hyperkalemic and acidotic, and was eventually treated with sodium bicarbonate and potassium chelation. At the time of the presentation to the NIH, her laboratory evaluation revealed serum potassium 5.1 mmol/l (reference range: 3.4–5.1 mmol/l), aldosterone 2800 ng/dl (reference range: ≤21 ng/dl) and plasma renin activity 90 ng/ml/h (reference range: 0.6–4.3 ng/ml per h). Diagnosis of PHA1 was suspected. Sequencing of the SCNN1B gene, which codes for ENaC, revealed that the patient is a compound heterozygote for two novel variants (c.1288delC and c.1466+1 G>A), confirming the suspected diagnosis of PHA1. In conclusion, we report a patient with novel variants of the SCNN1B gene causing PHA1 with persistent, symptomatic hyperkalemia. Learning points PHA1 is a rare genetic condition, causing functional abnormalities of the amiloride-sensitive ENaC.PHA1 was caused by previously unreported SCNN1B gene mutations (c.1288delC and c.1466+1 G>A).Early recognition of this condition and adherence to symptomatic therapy is important, as the electrolyte abnormalities found may lead to severe dehydration, cardiac arrhythmias and even death.High doses of sodium polystyrene sulfonate, sodium chloride and sodium bicarbonate are required for symptomatic

  7. Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

    PubMed

    Sartorato, Paola; Lapeyraque, Anne-Laure; Armanini, Decio; Kuhnle, Ursula; Khaldi, Yasmina; Salomon, Rémi; Abadie, Véronique; Di Battista, Eliana; Naselli, Arturo; Racine, Alain; Bosio, Maurizio; Caprio, Massimiliano; Poulet-Young, Véronique; Chabrolle, Jean-Pierre; Niaudet, Patrick; De Gennes, Christiane; Lecornec, Marie-Hélène; Poisson, Elodie; Fusco, Anna Maria; Loli, Paola; Lombès, Marc; Zennaro, Maria-Christina

    2003-06-01

    We have analyzed the human mineralocorticoid receptor (hMR) gene in 14 families with autosomal dominant or sporadic pseudohypoaldosteronism (PHA1), a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive. Six heterozygous mutations were detected. Two frameshift mutations in exon 2 (insT1354, del8bp537) and one nonsense mutation in exon 4 (C2157A, Cys645stop) generate truncated proteins due to premature stop codons. Three missense mutations (G633R, Q776R, L979P) differently affect hMR function. The DNA binding domain mutant R633 exhibits reduced maximal transactivation, although its binding characteristics and ED(50) of transactivation are comparable with wild-type hMR. Ligand binding domain mutants R776 and P979 present reduced or absent aldosterone binding, respectively, which is associated with reduced or absent ligand-dependent transactivation capacity. Finally, P979 possesses a transdominant negative effect on wild-type hMR activity, whereas mutations G633R and Q776R probably result in haploinsufficiency in PHA1 patients. We conclude that hMR mutations are a common feature of autosomal dominant PHA1, being found in 70% of our familial cases. Their absence in some families underscores the importance of an extensive investigation of the hMR gene and the role of precise diagnostic procedures to allow for identification of other genes potentially involved in the disease. PMID:12788847

  8. Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

    PubMed

    Sartorato, Paola; Lapeyraque, Anne-Laure; Armanini, Decio; Kuhnle, Ursula; Khaldi, Yasmina; Salomon, Rémi; Abadie, Véronique; Di Battista, Eliana; Naselli, Arturo; Racine, Alain; Bosio, Maurizio; Caprio, Massimiliano; Poulet-Young, Véronique; Chabrolle, Jean-Pierre; Niaudet, Patrick; De Gennes, Christiane; Lecornec, Marie-Hélène; Poisson, Elodie; Fusco, Anna Maria; Loli, Paola; Lombès, Marc; Zennaro, Maria-Christina

    2003-06-01

    We have analyzed the human mineralocorticoid receptor (hMR) gene in 14 families with autosomal dominant or sporadic pseudohypoaldosteronism (PHA1), a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive. Six heterozygous mutations were detected. Two frameshift mutations in exon 2 (insT1354, del8bp537) and one nonsense mutation in exon 4 (C2157A, Cys645stop) generate truncated proteins due to premature stop codons. Three missense mutations (G633R, Q776R, L979P) differently affect hMR function. The DNA binding domain mutant R633 exhibits reduced maximal transactivation, although its binding characteristics and ED(50) of transactivation are comparable with wild-type hMR. Ligand binding domain mutants R776 and P979 present reduced or absent aldosterone binding, respectively, which is associated with reduced or absent ligand-dependent transactivation capacity. Finally, P979 possesses a transdominant negative effect on wild-type hMR activity, whereas mutations G633R and Q776R probably result in haploinsufficiency in PHA1 patients. We conclude that hMR mutations are a common feature of autosomal dominant PHA1, being found in 70% of our familial cases. Their absence in some families underscores the importance of an extensive investigation of the hMR gene and the role of precise diagnostic procedures to allow for identification of other genes potentially involved in the disease.

  9. A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation

    PubMed Central

    Mitani, Marie; Furuichi, Munehiro; Narumi, Satoshi; Hasegawa, Tomonobu; Chiga, Motoko; Uchida, Shinichi; Sato, Seiji

    2016-01-01

    Abstract. Pseudohypoaldosteronism type II (PHA II) is a renal tubular disease that causes hyperkalemia, hypertension, and metabolic acidosis. Mutations in four genes (WNK4, WNK1, KLHL3, and CUL3) are known to cause PHA II. We report a patient with PHA II carrying a KLHL3 mutation, who also had congenital hypopituitarism. The patient, a 3-yr-old boy, experienced loss of consciousness at age 10 mo. He exhibited growth failure, hypertension, hyperkalemia, and metabolic acidosis. We diagnosed him as having PHA II because he had low plasma renin activity with normal plasma aldosterone level and a low transtubular potassium gradient. Further investigations revealed defective secretion of GH and gonadotropins and anterior pituitary gland hypoplasia. Genetic analyses revealed a previously known heterozygous KLHL3 mutation (p.Leu387Pro), but no mutation was detected in 27 genes associated with congenital hypopituitarism. He was treated with sodium restriction and recombinant human GH, which normalized growth velocity. This is the first report of a molecularly confirmed patient with PHA II complicated by congenital hypopituitarism. We speculate that both GH deficiency and metabolic acidosis contributed to growth failure. Endocrinological investigations will help to individualize the treatment of patients with PHA II presenting with growth failure. PMID:27780982

  10. Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy

    PubMed Central

    Bowden, Sasigarn A.; Cozzi, Corin; Hickey, Scott E.; Thrush, Devon Lamb; Astbury, Caroline; Nuthakki, Sushma

    2013-01-01

    Type 1 pseudohypoaldosteronism (PHA1) is a salt wasting syndrome caused by renal resistance to aldosterone. Primary renal PHA1 or autosomal dominant PHA1 is caused by mutations in mineralocorticoids receptor gene (NR3C2), while secondary PHA1 is frequently associated with urinary tract infection (UTI) and/or urinary tract malformations (UTM). We report a 14-day-old male infant presenting with severe hyperkalemia, hyponatremic dehydration, metabolic acidosis, and markedly elevated serum aldosterone level, initially thought to have secondary PHA1 due to the associated UTI and posterior urethral valves. His serum aldosterone remained elevated at 5 months of age, despite resolution of salt wasting symptoms. Chromosomal microarray analysis revealed a deletion of exons 3–5 in NR3C2 in the patient and his asymptomatic mother who also had elevated serum aldosterone level, confirming that he had primary or autosomal dominant PHA1. Our case raises the possibility that some patients with secondary PHA1 attributed to UTI and/or UTM may instead have primary autosomal dominant PHA1, for which genetic testing should be considered to identify the cause, determine future recurrence risk, and possibly prevent the life-threatening salt wasting in a subsequent family member. Future clinical research is needed to investigate the potential overlapping between secondary PHA1 and primary autosomal dominant PHA1. PMID:24455331

  11. Genetics Home Reference: autosomal recessive cerebellar ataxia type 1

    MedlinePlus

    ... Health Conditions ARCA1 autosomal recessive cerebellar ataxia type 1 Enable Javascript to view the expand/collapse boxes. ... Close All Description Autosomal recessive cerebellar ataxia type 1 ( ARCA1 ) is a condition characterized by progressive problems ...

  12. Life threatening hyperkalemia in a neonate with pseudo-hypoaldosteronism.

    PubMed

    Choudhry, Shehla; Najam, Yawar

    2012-03-01

    Pseudohypoaldosteronism type 1 is a rare disorder characterized by renal resistance to aldosterone which may present with a salt wasting crisis in infancy. We report a neonate with hyponatremia, severe dehydration and refractory life threatening hyperkalemia who was treated with dietary sodium chloride supplementation, potassium binding resins and fluid replacement therapy which proved to be lifesaving.

  13. Dermal and Ophthalmic Findings in Pseudohypoaldosteronism

    PubMed Central

    Korkut, Sabriye; Gökalp, Emir; Özdemir, Ahmet; Kurtoğlu, Selim; Demirtaş, Şafak; Gül, Ülkü; Baştuğ, Osman

    2015-01-01

    Pseudohypoaldosteronism (PHA) is defined as a state of resistance to aldosterone, a hormone crucial for electrolyte equilibrium. The genetically transmitted type of PHA is primary hypoaldosteronism. Secondary hypoaldosteronism develops as a result of hydronephrosis or hydroureter. PHA patients suffer from severe hyponatremia and a severe clinical condition due to severe loss of salt can be encountered in the neonatal period. Dermal findings in the form of miliaria rubra can also develop in these patients. With the loss of salt, abnormal accumulation of sebum in the eye due to a defect in the sodium channels can also occur. In this paper, a case of PHA in a newborn showing typical dermatological and ophthalmological findings is presented. PMID:26316441

  14. Autosomal recessive postaxial polydactyly type A in a Sicilian family.

    PubMed Central

    Mollica, F; Volti, S L; Sorge, G

    1978-01-01

    Postaxial polydactyly type A was present in several members of a Sicilian family. The anomaly was probably transmitted as an autosomal recessive character. Two polydactylous subjects were also beta-thalassaemia carriers, but a linkage between the two mutant genes could be excluded. Two patients with hexadactyly had a fifth digital triradius. Images PMID:27639

  15. 46 CFR 171.073 - Treatment of stepped and recessed bulkheads in Type II subdivision.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 46 Shipping 7 2010-10-01 2010-10-01 false Treatment of stepped and recessed bulkheads in Type II... Treatment of stepped and recessed bulkheads in Type II subdivision. (a) A main transverse watertight bulkhead may not be stepped unless additional watertight bulkheads are located as shown in Figure...

  16. 46 CFR 171.067 - Treatment of stepped and recessed bulkheads in Type I subdivision.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 46 Shipping 7 2010-10-01 2010-10-01 false Treatment of stepped and recessed bulkheads in Type I... Treatment of stepped and recessed bulkheads in Type I subdivision. (a) For the purpose of this section— (1) The main transverse watertight bulkhead immediately forward of a stepped bulkhead is referred to...

  17. 46 CFR 171.073 - Treatment of stepped and recessed bulkheads in Type II subdivision.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 46 Shipping 7 2011-10-01 2011-10-01 false Treatment of stepped and recessed bulkheads in Type II... Stability § 171.073 Treatment of stepped and recessed bulkheads in Type II subdivision. (a) A main transverse watertight bulkhead may not be stepped unless additional watertight bulkheads are located as...

  18. 46 CFR 171.067 - Treatment of stepped and recessed bulkheads in Type I subdivision.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 46 Shipping 7 2011-10-01 2011-10-01 false Treatment of stepped and recessed bulkheads in Type I... Stability § 171.067 Treatment of stepped and recessed bulkheads in Type I subdivision. (a) For the purpose of this section— (1) The main transverse watertight bulkhead immediately forward of a...

  19. 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

  20. Gingival recession: its causes and types, and the importance of orthodontic treatment.

    PubMed

    Jati, Ana Suzy; Furquim, Laurindo Zanco; Consolaro, Alberto

    2016-06-01

    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

  1. Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family.

    PubMed

    Cherkaoui Jaouad, I; El Alloussi, M; Laarabi, F Z; Bouhouche, A; Ameziane, R; Sefiani, A

    2013-08-01

    Dentin dysplasia is a rare autosomal dominant genetic disease characterized by defect of dentin development and the causal gene is DSPP (Dentin Sialophosphoprotein gene). We report in the present study a large Moroccan family in which dentin dysplasia is clearly transmitted as an autosomal recessive trait. Four males and females family members born from healthy consanguineous parents are carriers of the typical features of the dentin dysplasia type I. Polymorphic markers that span the DSPP gene, allowed us to show that this locus is not linked to dentin dysplasia in our family. We also excluded in our family the SMOC2 gene (Sparc Related Modular Calcium Binding Protein 2) which was recently identified as a causal gene in dentin dysplasia type I with microdontia and misshapen teeth. This family represents, a new description of autosomal recessive pattern of inheritance of dentin dysplasia type I. Moreover, this form of dentin dysplasia is not allelic to the autosomal dominant dentin dysplasia and the genetic cause is to be discovered.

  2. 46 CFR 171.067 - Treatment of stepped and recessed bulkheads in Type I subdivision.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... and the transverse plane passing through the nearest portion of a recessed bulkhead must be greater... recessed, equivalent plane bulkheads must be used in the calculations required to demonstrate...

  3. 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

  4. Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.

    PubMed

    Mancini, Cecilia; Nassani, Stefano; Guo, Yiran; Chen, Yulan; Giorgio, Elisa; Brussino, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Lo Buono, Nicola; Funaro, Ada; Pizio, Nicola Renato; Nmezi, Bruce; Kyttala, Aija; Santorelli, Filippo Maria; Padiath, Quasar Salem; Hakonarson, Hakon; Zhang, Hao; Brusco, Alfredo

    2015-01-01

    Autosomal recessive inherited ataxias are a growing group of genetic disorders. We report two Italian siblings presenting in their mid-50s with difficulty in walking, dysarthria and progressive cognitive decline. Visual loss, ascribed to glaucoma, manifested a few years before the other symptoms. Brain MRI showed severe cerebellar atrophy, prevalent in the vermis, with marked cortical atrophy of both hemispheres. Exome sequencing identified a novel homozygous mutation (c.935G > A;p.Ser312Asn) in the ceroid neuronal lipofuscinosis type 5 gene (CLN5). Bioinformatics predictions and in vitro studies showed that the mutation was deleterious and likely affects ER-lysosome protein trafficking. Our findings support CLN5 hypomorphic mutations cause autosomal recessive cerebellar ataxia, confirming other reports showing CLN mutations are associated with adult-onset neurodegenerative disorders. We suggest CLN genes should be considered in the molecular analyses of patients presenting with adult-onset autosomal recessive cerebellar ataxia.

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

    PubMed Central

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

    2014-01-01

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

  6. NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I.

    PubMed

    Percy, M J; Aslan, D

    2008-10-01

    The development of cyanosis at birth, the so-called blue baby syndrome, alerts paediatricians to the presence of congenital heart disease. In rare cases where the arterial blood gas analysis is normal the cyanosis is a consequence of methaemoglobinaemia. There are three distinct origins of methaemoglobinaemia; the presence of a haemoglobin variant, environmental toxicity and deficiency of cytochrome b5 reductase (cb(5)r). Two children born to two sets of first-degree related parents were cyanotic from birth. Differential diagnosis eliminated cardiac and pulmonary abnormalities. Measurement of methaemoglobin levels confirmed recessive congenital methaemoglobinaemia (RCM) and treatment with ascorbic acid was commenced. In the absence of neurological defects, type I disease was diagnosed. Sequence analysis of CYB5R3 revealed two different missense mutations (one which is novel, Ile85Ser) in the two families. Neither of the mutations was located in the FAD or the NADH binding sites of cb(5)r, thus supporting a diagnosis of type I disease. PMID:18820099

  7. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

    PubMed

    Bras, Jose; Alonso, Isabel; Barbot, Clara; Costa, Maria Manuela; Darwent, Lee; Orme, Tatiana; Sequeiros, Jorge; Hardy, John; Coutinho, Paula; Guerreiro, Rita

    2015-03-01

    Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, systematic survey as displaying a consistent phenotype of recessive ataxia with oculomotor apraxia (AOA). The integration of data from these analyses led to the identification of the same homozygous PNKP (polynucleotide kinase 3'-phosphatase) mutation, c.1123G>T (p.Gly375Trp), in three of the studied families. When analyzing this particular gene in the exome sequencing data from the remaining cohort, we identified homozygous or compound-heterozygous mutations in five other families. PNKP is a dual-function enzyme with a key role in different pathways of DNA-damage repair. Mutations in this gene have previously been associated with an autosomal-recessive syndrome characterized by microcephaly; early-onset, intractable seizures; and developmental delay (MCSZ). The finding of PNKP mutations associated with recessive AOA extends the phenotype associated with this gene and identifies a fourth locus that causes AOA. These data confirm that MCSZ and some forms of ataxia share etiological features, most likely reflecting the role of PNKP in DNA-repair mechanisms. PMID:25728773

  8. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

    PubMed

    Bras, Jose; Alonso, Isabel; Barbot, Clara; Costa, Maria Manuela; Darwent, Lee; Orme, Tatiana; Sequeiros, Jorge; Hardy, John; Coutinho, Paula; Guerreiro, Rita

    2015-03-01

    Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, systematic survey as displaying a consistent phenotype of recessive ataxia with oculomotor apraxia (AOA). The integration of data from these analyses led to the identification of the same homozygous PNKP (polynucleotide kinase 3'-phosphatase) mutation, c.1123G>T (p.Gly375Trp), in three of the studied families. When analyzing this particular gene in the exome sequencing data from the remaining cohort, we identified homozygous or compound-heterozygous mutations in five other families. PNKP is a dual-function enzyme with a key role in different pathways of DNA-damage repair. Mutations in this gene have previously been associated with an autosomal-recessive syndrome characterized by microcephaly; early-onset, intractable seizures; and developmental delay (MCSZ). The finding of PNKP mutations associated with recessive AOA extends the phenotype associated with this gene and identifies a fourth locus that causes AOA. These data confirm that MCSZ and some forms of ataxia share etiological features, most likely reflecting the role of PNKP in DNA-repair mechanisms.

  9. Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

    PubMed Central

    Bras, Jose; Alonso, Isabel; Barbot, Clara; Costa, Maria Manuela; Darwent, Lee; Orme, Tatiana; Sequeiros, Jorge; Hardy, John; Coutinho, Paula; Guerreiro, Rita

    2015-01-01

    Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, systematic survey as displaying a consistent phenotype of recessive ataxia with oculomotor apraxia (AOA). The integration of data from these analyses led to the identification of the same homozygous PNKP (polynucleotide kinase 3′-phosphatase) mutation, c.1123G>T (p.Gly375Trp), in three of the studied families. When analyzing this particular gene in the exome sequencing data from the remaining cohort, we identified homozygous or compound-heterozygous mutations in five other families. PNKP is a dual-function enzyme with a key role in different pathways of DNA-damage repair. Mutations in this gene have previously been associated with an autosomal-recessive syndrome characterized by microcephaly; early-onset, intractable seizures; and developmental delay (MCSZ). The finding of PNKP mutations associated with recessive AOA extends the phenotype associated with this gene and identifies a fourth locus that causes AOA. These data confirm that MCSZ and some forms of ataxia share etiological features, most likely reflecting the role of PNKP in DNA-repair mechanisms. PMID:25728773

  10. Two-Bit/Cell Programming Characteristics of High-Density NOR-Type Flash Memory Device with Recessed Channel Structure and Spacer-Type Nitride Layer

    NASA Astrophysics Data System (ADS)

    Han, Kyoung-Rok; Lee, Jong-Ho

    2006-10-01

    The structure of novel 2-bit/cell silicon-oxide-nitride-oxide-silicon (SONOS) flash memory device was proposed and characterized for sub-50 nm non-volatile memory (NVM) technology. A proposed memory cell has spacer-type storage nodes on both sidewalls in a recessed channel region. It was shown that counter channel doping near the bottom of the recessed channel is very important and can improve the Vth margin for 2-bit/cell operation by ˜2.5 times. By controlling doping profiles of the channel doping and the counter channel doping in the recessed channel region, we could obtain the Vth margin more than ˜1.5 V.

  11. Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis.

    PubMed

    Kastl, I; Anton-Lamprecht, I; Gamborg Nielsen, P

    1990-01-01

    A new kind of diffuse palmoplantar keratoderma with autosomal recessive inheritance and without associated symptoms was described in Norrbotten, Sweden by Gamborg Nielsen in 1985. Clinically, it ranges between the less severe dominant Unna-Thost type and the more severe recessive Meleda type, as it is milder than the latter. Skin biopsies of five patients from three different families with this new palmoplantar keratoderma, as well as five obligatory heterozygotes from one family, were investigated ultrastructurally in order to characterize this new entity and to differentiate it from the Meleda type. Several features are common to both autosomal recessive palmoplantar keratoses. They show a broadened granular layer, a transit region consisting of cells with a marginal envelope, and considerable hyperkeratosis. Morphologically, this transformation delay is less pronounced in the Gamborg Nielsen type than in the classical Meleda type. As is typical for ridged skin, both types of palmoplantar keratoses possess composite keratohyaline granules. In contrast to the normal appearance of keratohyaline granules in the Meleda type, the Gamborg Nielsen type also shows qualitative deviations of keratohyaline granules with different degrees of spongiosity and electron density and sometimes with a granular border. It seems that abnormal keratohyaline proteins are synthesized that behave differently. The sudden transformation of a granular into a horny cell is physiologically regulated by different enzymes. A delay in this process may be caused by a mutation that reduces or alters the enzymes concerned. We assume the palmoplantar keratoderma of the Gamborg Nielsen type to be a variant of the heterogeneous group of the Meleda type of palmoplantar keratoderma with autosomal recessive inheritance.

  12. Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart.

    PubMed

    El Tarazi, Abdulah; Lussier, Yoann; Da Cal, Sandra; Bissonnette, Pierre; Bichet, Daniel G

    2016-01-01

    Aquaporin-2 (AQP2) is a homotetrameric water channel responsible for the final water reuptake in the kidney. Mutations in the protein induce nephrogenic diabetes insipidus (NDI), which challenges the water balance by producing large urinary volumes. Although recessive AQP2 mutations are believed to generate non-functional and monomeric proteins, the literature identifies several mild mutations which suggest the existence of mixed wt/mut tetramers likely to carry function in heterozygotes. Using Xenopus oocytes, we tested this hypothesis and found that mild mutants (V24A, D150E) can associate with wt-AQP2 in mixed heteromers, providing clear functional gain in the process (62 ± 17% and 63 ± 17% increases, respectively), conversely to the strong monomeric R187C mutant which fails to associate with wt-AQP2. In kidney cells, both V24A and D150E display restored targeting while R187C remains in intracellular stores. Using a collection of mutations to expand recovery analyses, we demonstrate that inter-unit contacts are central to this recovery process. These results not only present the ground data for the functional recovery of recessive AQP2 mutants through heteromerization, which prompt to revisit the accepted NDI model, but more importantly describe a general recovery process that could impact on all multimeric systems where recessive mutations are found. PMID:27641679

  13. Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart

    PubMed Central

    El Tarazi, Abdulah; Lussier, Yoann; Da Cal, Sandra; Bissonnette, Pierre; Bichet, Daniel G.

    2016-01-01

    Aquaporin-2 (AQP2) is a homotetrameric water channel responsible for the final water reuptake in the kidney. Mutations in the protein induce nephrogenic diabetes insipidus (NDI), which challenges the water balance by producing large urinary volumes. Although recessive AQP2 mutations are believed to generate non-functional and monomeric proteins, the literature identifies several mild mutations which suggest the existence of mixed wt/mut tetramers likely to carry function in heterozygotes. Using Xenopus oocytes, we tested this hypothesis and found that mild mutants (V24A, D150E) can associate with wt-AQP2 in mixed heteromers, providing clear functional gain in the process (62 ± 17% and 63 ± 17% increases, respectively), conversely to the strong monomeric R187C mutant which fails to associate with wt-AQP2. In kidney cells, both V24A and D150E display restored targeting while R187C remains in intracellular stores. Using a collection of mutations to expand recovery analyses, we demonstrate that inter-unit contacts are central to this recovery process. These results not only present the ground data for the functional recovery of recessive AQP2 mutants through heteromerization, which prompt to revisit the accepted NDI model, but more importantly describe a general recovery process that could impact on all multimeric systems where recessive mutations are found. PMID:27641679

  14. Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

    PubMed Central

    Higuchi, Yujiro; Hashiguchi, Akihiro; Yuan, Junhui; Yoshimura, Akiko; Mitsui, Jun; Ishiura, Hiroyuki; Tanaka, Masaki; Ishihara, Satoshi; Tanabe, Hajime; Nozuma, Satoshi; Okamoto, Yuji; Matsuura, Eiji; Ohkubo, Ryuichi; Inamizu, Saeko; Shiraishi, Wataru; Yamasaki, Ryo; Ohyagi, Yasumasa; Kira, Jun‐ichi; Oya, Yasushi; Yabe, Hayato; Nishikawa, Noriko; Tobisawa, Shinsuke; Matsuda, Nozomu; Masuda, Masayuki; Kugimoto, Chiharu; Fukushima, Kazuhiro; Yano, Satoshi; Yoshimura, Jun; Doi, Koichiro; Nakagawa, Masanori; Morishita, Shinichi; Tsuji, Shoji

    2016-01-01

    Objective The objective of this study was to identify new causes of Charcot–Marie–Tooth (CMT) disease in patients with autosomal‐recessive (AR) CMT. Methods To efficiently identify novel causative genes for AR‐CMT, we analyzed 303 unrelated Japanese patients with CMT using whole‐exome sequencing and extracted recessive variants/genes shared among multiple patients. We performed mutation screening of the newly identified membrane metalloendopeptidase (MME) gene in 354 additional patients with CMT. We clinically, genetically, pathologically, and radiologically examined 10 patients with the MME mutation. Results We identified recessive mutations in MME in 10 patients. The MME gene encodes neprilysin (NEP), which is well known to be one of the most prominent beta‐amyloid (Aβ)‐degrading enzymes. All patients had a similar phenotype consistent with late‐onset axonal neuropathy. They showed muscle weakness, atrophy, and sensory disturbance in the lower extremities. All the MME mutations could be loss‐of‐function mutations, and we confirmed a lack/decrease of NEP protein expression in a peripheral nerve. No patients showed symptoms of dementia, and 1 patient showed no excess Aβ in Pittsburgh compound‐B positron emission tomography imaging. Interpretation Our results indicate that loss‐of‐function MME mutations are the most frequent cause of adult‐onset AR‐CMT2 in Japan, and we propose that this new disease should be termed AR‐CMT2T. A loss‐of‐function MME mutation did not cause early‐onset Alzheimer's disease. Identifying the MME mutation responsible for AR‐CMT could improve the rate of molecular diagnosis and the understanding of the molecular mechanisms of CMT. Ann Neurol 2016;79:659–672 PMID:26991897

  15. 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 ...

  16. Premature termination codons in the Type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa

    SciTech Connect

    Christiano, A.M.; Uitto, J. ); Anhalt, G. ); Gibbons, S.; Bauer, E.A. )

    1994-05-01

    Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into three major categories on the basis of the level of tissue separation within the dermal-epidermal basement membrane zone. The most severe, dystrophic (scarring) forms of EB demonstrate blister formation below the cutaneous basement membrane at the level of the anchoring fibrils. Ultrastructural observations of altered anchoring fibrils and genetic linkage to the gene encoding type VII collagen (COL7A1), the major component of anchoring fibrils, have implicated COL7A1 as the candidate gene in the dystrophic forms of EB. The authors have recently cloned the entire cDNA and gene for human COL7A1, which has been mapped to 3p21. In this study, they describe mutations in four COL7A1 alleles in three patients with severe, mutilating recessive dystrophic EB (Hallopeau-Siemens type, HS-RDEB). Each of these mutations resulted in a premature termination codon (PTC) in the amino-terminal portion of COL7A1. One of the patients was a compound heterozygote for two different mutations. The heterozygous carriers showed an [approximately] 50% reduction in anchoring fibrils, yet were clinically unaffected. Premature termination codons in both alleles of COL7A1 may thus be a major underlying cause of the severe, recessive dystrophic forms of EB. 40 refs., 8 figs.

  17. Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly.

    PubMed

    Marchal, Juan Alberto; Ghani, Mahdi; Schindler, Detlev; Gavvovidis, Ioannis; Winkler, Tina; Esquitino, Veronique; Sternberg, Nadine; Busche, Andreas; Krawitz, Peter; Hecht, Joachim; Robinson, Peter; Mundlos, Stephan; Graul-Neumann, Luitgard; Sperling, Karl; Trimborn, Marc; Neitzel, Heidemarie

    2011-09-01

    Primary autosomal recessive microcephaly (MCPH) is a congenital disorder characterized by a pronounced reduction of brain size and mental retardation. We present here a consanguineous Turkish family clinically diagnosed with MCPH and without linkage to any of the known loci (MCPH1-MCPH7). Autozygosity mapping identified a homozygous region of 15.8 Mb on chromosome 10q11.23-21.3, most likely representing a new locus for MCPH. Although we were unable to identify the underlying genetic defect after extensive molecular screening, we could delineate a possible molecular function in chromosome segregation by the characterization of mitosis in the patients' cells. Analyses of chromosome nondisjunction in T-lymphocytes and fibroblasts revealed a significantly elevated rate of nondisjunction in the patients' cells as compared to controls. Mitotic progression was further explored by immunofluorescence analyses of several chromosome and spindle associated proteins. We detected a remarkable alteration in the anaphase distribution of Aurora B and INCENP, which are key regulators of chromosome segregation. In particular, a fraction of both proteins remained abnormally loaded on chromosomes during anaphase in MCPH patients' cells while in cells of normal control subjects both proteins are completely transferred to the spindle midzone. We did not observe any other alterations regarding cell cycle progression, chromosome structure, or response to DNA damage. Our observations point towards a molecular role of the underlying gene product in the regulation of anaphase/telophase progression possibly through interaction with chromosomal passenger proteins. In addition, our findings represent further evidence for the proposed role of MCPH genes in the regulation of mitotic progression.

  18. Secondary or Transient Pseudohypoaldosteronism Associated With Urinary Tract Anomaly and Urinary Infection: A Case Report.

    PubMed

    Krishnappa, Vinod; Ross, Jonathan H; Kenagy, David N; Raina, Rupesh

    2016-09-01

    Hyponatremia with hyperkalemia in infancy is a rare presentation, but may be due to aldosterone deficiency or end organ resistance to its action. There are few cases associating this condition with urinary tract infections or anatomic abnormalities that predispose to infection. Clinicians should have a high index of suspicion in diagnosing secondary pseudohypoaldosteronism (PHA) due to its often atypical presentation. We describe ten month-old infant who presented with this condition and was found to have urinary tract infection complicating unilateral urinary tract anomaly, which may have strong association with renal tubular resistance to aldosterone. PMID:27516976

  19. Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

    PubMed Central

    Richards, Allan J; Fincham, Gregory S; McNinch, Annie; Hill, David; Poulson, Arabella V; Castle, Bruce; Lees, Melissa M; Moore, Anthony T; Scott, John D; Snead, Martin P

    2013-01-01

    Background Stickler syndromes types 1, 2 and 3 are usually dominant disorders caused by mutations in the genes COL2A1, COL11A1 and COL11A2 that encode the fibrillar collagens types II and XI present in cartilage and vitreous. Rare recessive forms of Stickler syndrome exist that are due to mutations in genes encoding type IX collagen (COL9A1 type 4 Stickler syndrome and COL9A2 type 5 Stickler syndrome). Recently, recessive mutations in the COL11A1 gene have been demonstrated to result in fibrochondrogenesis, a much more severe skeletal dysplasia, which is often lethal. Here we demonstrate that some mutations in COL11A1 are recessive, modified by alternative splicing and result in type 2 Stickler syndrome rather than fibrochondrogenesis. Methods Patients referred to the national Stickler syndrome diagnostic service for England, UK were assessed clinically and subsequently sequenced for mutations in COL11A1. Additional in silico and functional studies to assess the effect of sequence variants on pre-mRNA processing and collagen structure were performed. Results In three different families, heterozygous COL11A1 biallelic null, null/missense or silent/missense mutations, were found. They resulted in a recessive form of type 2 Stickler syndrome characterised by particularly profound hearing loss and are clinically distinct from the recessive types 4 and 5 variants of Stickler syndrome. One mutant allele in each family is capable of synthesising a normal α1(XI) procollagen molecule, via variable pre-mRNA processing. Conclusion This new variant has important implications for molecular diagnosis and counselling families with type 2 Stickler syndrome. PMID:23922384

  20. No apparent mineralocorticoid receptor defect in a series of sporadic cases of pseudohypoaldosteronism.

    PubMed

    Arai, K; Tsigos, C; Suzuki, Y; Listwak, S; Zachman, K; Zangeneh, F; Rapaport, R; Chanoine, J P; Chrousos, G P

    1995-03-01

    Pseudohypoaldosteronism (PHA) is characterized by congenital resistance of the kidney and/or other mineralocorticoid target tissues to aldosterone, resulting in excessive salt wasting. Although the mineralocorticoid receptor (MR) was suggested as a potential locus of the defect in this disease, no such abnormality was found in 3 recently reported cases, one of whom belongs to this series of 5 patients. Molecular studies of the MR complementary DNA and gene in this series of sporadic cases of pseudohypoaldosteronism are reported. Four of these patients had multiple mineralocorticoid target tissue resistance, whereas 1 had transient isolated resistance in the kidney. A nonconservative homozygous mutation (C944-->T944, Ala241-->Val241) was identified in the complementary DNA of 4 of the patients but was also found in 62 of 100 normal alleles. One of these 4 patients had an additional conservative heterozygous mutation (A760-->G760, Ileu180-->Val180), which was also present in 11 of 100 normal alleles. None of the patients had any abnormalities in the first untranslated exon and 0.9 kilobases of the 5'-regulatory region of the MR gene, which were fully sequenced and compared with the normal sequence. It is concluded that the mutations identified in 4 of these 5 patients with PHA are polymorphisms, which on their own have no apparent pathophysiological significance. It is hypothesized that the defect causing PHA might be in a post-MR step of aldosterone action or in an unsuspected nonclassic receptor for this hormone. PMID:7883835

  1. CALiPER Report 21.2. Linear (T8) LED Lamp Performance in Five Types of Recessed Troffers

    SciTech Connect

    2014-05-01

    Although lensed troffers are numerous, there are many other types of optical systems as well. This report looks at the performance of three linear (T8) LED lamps—chosen primarily based on their luminous intensity distributions (narrow, medium, and wide beam angles)—as well as a benchmark fluorescent lamp in five different troffer types. Also included are the results of a subjective evaluation. Results show that linear (T8) LED lamps can improve luminaire efficiency in K12-lensed and parabolic-louvered troffers, effect little change in volumetric and high-performance diffuse-lensed type luminaires, but reduce efficiency in recessed indirect troffers. These changes can be accompanied by visual appearance and visual comfort consequences, especially when LED lamps with clear lenses and narrow distributions are installed. Linear (T8) LED lamps with diffuse apertures exhibited wider beam angles, performed more similarly to fluorescent lamps, and received better ratings from observers. Guidance is provided on which luminaires are the best candidates for retrofitting with linear (T8) LED lamps.

  2. Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis.

    PubMed Central

    Labuda, M; Morgan, K; Glorieux, F H

    1990-01-01

    Linkage analysis in French-Canadian families with vitamin D dependency type I (VDD1) demonstrated that the gene responsible for the disease is linked to polymorphic RFLP markers in the 12q14 region. We studied 76 subjects in 14 sibships which included 17 affected individuals and 17 obligate heterozygotes. Significant results for linkage were obtained with the D12S17 locus at the male recombination fraction (theta m) .018 (Z[theta m theta f] = 3.20) and with D126 at (theta m = .025 (Z[theta m theta f] = 3.07). Multipoint linkage analysis and studies of haplotypes and recombinants strongly suggest the localization of the VDD1 locus between the collagen type II alpha 1 (COL2A1) locus and clustered loci D12S14, D12S17, and D12S6, which segregate as a three-marker haplotype. Linkage disequilibrium between VDD1 and this three-marker haplotype supports the notion of a founder effect in the studied population. The current status of the localization of the disease allows for carrier detection in the families at risk. PMID:1971995

  3. 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…

  4. Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms

    PubMed Central

    Bultmann-Mellin, Insa; Conradi, Anne; Maul, Alexandra C.; Dinger, Katharina; Wempe, Frank; Wohl, Alexander P.; Imhof, Thomas; Wunderlich, F. Thomas; Bunck, Alexander C.; Nakamura, Tomoyuki; Koli, Katri; Bloch, Wilhelm; Ghanem, Alexander; Heinz, Andrea; von Melchner, Harald; Sengle, Gerhard; Sterner-Kock, Anja

    2015-01-01

    Recent studies have revealed an important role for LTBP-4 in elastogenesis. Its mutational inactivation in humans causes autosomal recessive cutis laxa type 1C (ARCL1C), which is a severe disorder caused by defects of the elastic fiber network. Although the human gene involved in ARCL1C has been discovered based on similar elastic fiber abnormalities exhibited by mice lacking the short Ltbp-4 isoform (Ltbp4S−/−), the murine phenotype does not replicate ARCL1C. We therefore inactivated both Ltbp-4 isoforms in the mouse germline to model ARCL1C. Comparative analysis of Ltbp4S−/− and Ltbp4-null (Ltbp4−/−) mice identified Ltbp-4L as an important factor for elastogenesis and postnatal survival, and showed that it has distinct tissue expression patterns and specific molecular functions. We identified fibulin-4 as a previously unknown interaction partner of both Ltbp-4 isoforms and demonstrated that at least Ltbp-4L expression is essential for incorporation of fibulin-4 into the extracellular matrix (ECM). Overall, our results contribute to the current understanding of elastogenesis and provide an animal model of ARCL1C. PMID:25713297

  5. Hook effect: a pitfall leading to misdiagnosis of hypoaldosteronism in an infant with pseudohypoaldosteronism.

    PubMed

    Akin, Leyla; Kurtoglu, Selim; Kendirci, Mustafa; Akin, Mustafa Ali; Hartmann, Michaela F; Wudy, Stefan A

    2010-01-01

    We report herein the case of a premature infant who presented with failure to thrive, hyponatremia, hyperkalemia and metabolic acidosis. Initial serum hormone profiling suggested isolated hypoaldosteronism (aldosterone: 0.01 pg/ml, normal range: 50-900 pg/ml). A gas chromatography-mass spectrometry spot urinary steroid profile showed grossly elevated levels of 18-hydroxy-tetrahydro-11-dehydrocorticosterone (18-hydroxy-THA: 5,893 microg/l; normal upper limit 36 microg/l) and tetrahydroaldosterone (TH-Aldo: 5,749 microg/l; normal upper limit 36 microg/l) which are aldosterone precursor metabolite and aldosterone metabolite, respectively. Thus, aldosterone synthase deficiency was excluded and pseudohypoaldosteronism (PHA) was suggested. A repeated test after dilution of the serum revealed a very high level of aldosterone (6,490 pg/ml), confirming the diagnosis of PHA in this case.

  6. 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

  7. 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. PMID:26238661

  8. Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.

    PubMed Central

    Christiano, A M; Suga, Y; Greenspan, D S; Ogawa, H; Uitto, J

    1995-01-01

    Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into three major categories on the basis of the level of tissue separation within the dermal-epidermal basement membrane zone. In the most severe, dystrophic (scarring) forms of EB, blisters form below the cutaneous basement membrane at the level of the anchoring fibrils, which are composed of type VII collagen. Ultrastructural observations of altered anchoring fibrils and genetic linkage to the type VII collagen locus (COL7A1) have implicated COL7A1 as the candidate gene in the dystrophic forms of EB. We have recently cloned the entire cDNA and the gene for human COL7A1. In this study, we describe distinct mutations in both COL7A1 alleles in three brothers with severe, mutilating recessive dystrophic EB (the Hallopeau-Siemens type, HS-RDEB). The patients are compound heterozygotes for two different mutations, both of which result in a premature termination codon in COL7A1, and the parents were shown to be clinically heterozygous carries of the respective mutations. Premature termination codons in both alleles of COL7A1 appear to be the underlying cause of severe, recessive dystrophic EB in this family. Images PMID:7883979

  9. A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia.

    PubMed

    Arikoglu, Tugba; Yarali, Nese; Kara, Abdurrahman; Bay, Ali; Bozkaya, Ikbal O; Tunc, Bahattin; Percy, Melanie J

    2009-01-01

    The presence of central cyanosis that is unrelated to cardiopulmonary causes alerts clinicians to a possible diagnosis of methemoglobinemia. Congenital methemoglobinemia due to deficiency of nicotinamide-adenine dinucleotide (NADH)-cytochrome b5 reductase (cb(5)r) is an autosomal recessive disorder characterized by life long cyanosis. Here we report a six-year old boy who presented with central cyanosis and upon examination revealed a methemoglobin level of 19.0%. Sequencing the CYB5R3 gene identified a homozygous T-->C transition at base c.653, which changed codon 218 from leucine to proline (L218P) in cb(5)r protein. Treatment with ascorbic acid relieved the cyanosis and returned methemoglobin levels to normal. PMID:19579085

  10. Autosomal recessive primary microcephalies (MCPH).

    PubMed

    Kaindl, Angela M

    2014-07-01

    Autosomal recessive primary microcephaly (MCPH) is a genetically heterogeneous disease characterized by a pronounced reduction in volume of otherwise architectonical normal brains and intellectual deficit. Here, we summarize the genetic causes of MCPH types 1-12 known to date. PMID:24780602

  11. DOE CALiPER Program, Report 21.2: Linear (T8) LED Lamp Performance in Five Types of Recessed Troffers

    SciTech Connect

    Miller, Naomi J.; Perrin, Tess E.; Royer, Michael P.; Wilkerson, Andrea M.; Beeson, Tracy A.

    2014-05-20

    Although lensed troffers are numerous, there are many other types of optical systems as well. This report looked at the performance of three linear (T8) LED lamps chosen primarily based on their luminous intensity distributions (narrow, medium, and wide beam angles) as well as a benchmark fluorescent lamp in five different troffer types. Also included are the results of a subjective evaluation. Results show that linear (T8) LED lamps can improve luminaire efficiency in K12-lensed and parabolic-louvered troffers, effect little change in volumetric and high-performance diffuse-lensed type luminaires, but reduce efficiency in recessed indirect troffers. These changes can be accompanied by visual appearance and visual comfort consequences, especially when LED lamps with clear lenses and narrow distributions are installed. Linear (T8) LED lamps with diffuse apertures exhibited wider beam angles, performed more similarly to fluorescent lamps, and received better ratings from observers. Guidance is provided on which luminaires are the best candidates for retrofitting with linear (T8) LED lamps.

  12. Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development

    SciTech Connect

    Tan, J.; Schachter, H.; Dunn, J.

    1996-10-01

    Carbohydrate-deficient glycoprotein syndrome (CDGS) type II is a multisystemic congenital disease with severe involvement of the nervous system. Two unrelated CDGS type II patients are shown to have point mutations (one patient having Ser{r_arrow}Phe and the other having His{r_arrow}Arg) in the catalytic domain of the gene MGAT2, encoding UDP-GlcNAc:{alpha}-6-D-mannoside {Beta}-1,2-N-ace-tylglucosaminyltransferase II (GnT II), an enzyme essential for biosynthesis of complex Asn-linked glycans. Both mutations caused both decreased expression of enzyme protein in a baculovirus/insect cell system and inactivation of enzyme activity. Restriction-endonuclease analysis of DNA from 23 blood relatives of one of these patients showed that 13 donors were heterozygotes; the other relatives and 21 unrelated donors were normal homozygotes. All heterozygotes showed a significant reduction (33%-68%) in mononuclear-cell GnT II activity. The data indicate that CDGS type II is an autosomal recessive disease and that complex Asn-linked glycans are essential for normal neurological development. 38 refs., 4 figs., 1 tab.

  13. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.

    PubMed Central

    Zatz, M; Penha-Serrano, C; Otto, P A

    1976-01-01

    A family with 24 males affected by an X-linked type of spastic paraplegia is reported. Twelve affected members were personally examined showing the pure form of the disease. Half of the affected males had many descendants, all normal. Linkage studies strongly suggest that this X-linked form of spastic paraplegia and Xg loci are not at a measurable distance on the X chromosome. PMID:1084423

  14. [New recurrent extended deletion, including GJB2 and GJB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive type of inheritance].

    PubMed

    Bliznets, E A; Makienko, O N; Okuneva, E G; Markova, T G; Poliakov, A V

    2014-04-01

    Hereditary hearing loss with the autosomal recessive type of inheritance of the DFNB 1 genetic type, caused by mutations in the GJB2 gene, is the main reason of innate non-syndromal hearing impairment in most developed countries of the world (including Russia). Intragenic point mutations prevail among the GJB2 gene defectors; however, extended deletions in the DFNB1 locus are also found with considerable frequency in some populations (for example, Spain, Great Britain, France, United States, and Brazil). Among the four known extended deletions, only one deletion affects directly the GJB2 gene sequence and was described in a single family. A new extended deletion in the GJB2 and GJB6 gene sequences (approximately 101 kb in size; NC_000013.10:g.20,757,021_20,858,394del), detected in three unrelated Russian patients, was described and characterized. Ingush origin of this mutation is assumed. If the new deletion is frequent, its detection is very important for the genetic consulting of families with hereditary hearing impairment. PMID:25715449

  15. Identification of three new mutations in the NADH-cytochrome b5 reductase gene responsible for recessive congenital methemoglobinemia type II

    SciTech Connect

    Mota-Vieira, L.; Kaplan, J.C.; Kahn, A.; Leroux, A.

    1994-09-01

    Recessive congenital methemoglobinemia (RCM; McKusick N{degrees}25800) due to NADH-cytochrome b5 reductase (cytb5r) deficiency leads to two different types of diseases: in type I form, cyanosis is the only symptom and the enzyme is only defective in red blood cells; in type II form, cyanosis is associated with severe mental retardation and neurological impairment and the enzyme defect is systemic. We have identified three new molecular defects in two unrelated patients with type II RCM. A homozygous C{r_arrow}T transition in codon 218 (Arg) was detected in the cDNA of one patient, resulting in a premature stop codon (TGA) in exon 8. Restriction enzyme analysis of genomic DNA confirmed the homozygosity of the propositus and heterozygosity for an identical defect in both parents. The second patient was found to be a compound heterozygote, carrying two different mutant alleles in the cyb5r gene. One allele presented a missense mutation (T{r_arrow}C) with substitution of Cys-203 (TGC) by Arg (CGC) in exon 7. The second allele showed a 3 bp deletion of nucleotides 815-817 of the cDNA. The CTG ATG sequence at position 814-819 in exon 9 coding for Leu-271 and Met-272 was replaced by the CTG triplet, with conservation of the Leu-271 and loss of the Met-272. To our knowledge, these are the first examples of a homozygous nonsense mutation and of a compound heterozygous mutation detected in the cytb5r gene. This finding supports the diversity of genetic defects in the cytb5r gene leading to the severe form of the disease.

  16. 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)…

  17. 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…

  18. 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…

  19. Recession in the Regions

    ERIC Educational Resources Information Center

    Plant, Helen

    2009-01-01

    National policy stresses the key role of adult learning and skills in securing economic recovery. This close linking of adult learning policy to the recession agenda raises important questions. How has the recession impacted on the implementation of adult learning policy? What has it meant for service delivery? And what have been the consequences…

  20. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.

    PubMed

    McGrath, J A; Gatalica, B; Li, K; Dunnill, M G; McMillan, J R; Christiano, A M; Eady, R A; Uitto, J

    1996-06-01

    Junctional epidermolysis bullosa is a heterogeneous autosomal recessively inherited blistering skin disorder associated with fragility at the dermal-epidermal junction. Previously, mutations in this condition have been described in the three genes for the anchoring filament protein laminin 5 (LAMA3, LAMB3, and LAMC2), in the gene encoding the hemidesmosome-associated beta4 integrin (ITGB4), and in the gene for the hemidesmosomal protein type XVII collagen (COL17A1/BPAG2). In this study, we report a patient with a form of junctional epidermolysis bullosa with skin fragility and dental anomalies who is a compound heterozygote for a novel combination of mutations, ie, a glycine substitution mutation in one allele and an internal duplication in the other allele of COL17A1. The patient also has two offspring, both of whom have inherited the glycine substitution mutation, whereas the other COL17A1 allele is normal. The latter individuals show no evidence of skin fragility but have marked dental abnormalities with enamel hypoplasia and pitting. The clinical phenotype of junctional epidermolysis bullosa in the proband in this family probably arises due to a combination of the glycine substitution and the internal duplication in COL17A1, whereas the dental abnormalities of her offspring may be the result of the glycine substitution in COL17A1 alone, resulting in this dominantly inherited clinical phenotype. PMID:8669466

  1. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

    PubMed

    Senderek, Jan; Bergmann, Carsten; Ramaekers, Vincent T; Nelis, Eva; Bernert, Günther; Makowski, Astrid; Züchner, Stephan; De Jonghe, Peter; Rudnik-Schöneborn, Sabine; Zerres, Klaus; Schröder, J Michael

    2003-03-01

    Mutations in the gene for the ganglioside-induced differentiation-associated protein-1 (GDAP1) on 8q21 recently were reported to cause autosomal recessive Charcot-Marie-Tooth (CMT) sensorimotor neuropathy. Neurophysiology and nerve pathology were heterogeneous in these cases: a subset of GDAP1 mutations was associated with peripheral nerve demyelination, whereas others resulted in axonal degeneration. In this study, we identified two novel mutations disrupting the GDAP1 reading frame. Homozygosity for a single base pair insertion in exon 3 (c.349_350insT) was observed in affected children from a Turkish inbred pedigree. The other novel allele detected in a German patient was a homozygous mutation of the intron 4 donor splice site (c.579 + 1G>A). Patients with GDAP1 mutations displayed severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities were between 25 and 35 m/s and peripheral nerve pathology showed axonal as well as demyelinating changes. These findings fitted the definition of intermediate type CMT and further support the view that GDAP1 is vital for both, axonal integrity and Schwann cell properties.

  2. Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).

    PubMed Central

    Christiano, A. M.; LaForgia, S.; Paller, A. S.; McGuire, J.; Shimizu, H.; Uitto, J.

    1996-01-01

    BACKGROUND: Epidermolysis bullosa (EB) is a group of heritable diseases that manifest as blistering and erosions of the skin and mucous membranes. In the dystrophic forms of EB (DEB), the diagnostic hallmark is abnormalities in the anchoring fibrils, attachment structures beneath the cutaneous basement membrane zone. The major component of anchoring fibrils is type VII collagen, and DEB has been linked to the type VII collagen gene (COL7A1) at 3p21, with no evidence for locus heterogeneity. Due to life-threatening complications and significant long-term morbidity associated with the severe, mutilating form of recessive dystrophic EB (RDEB), there has been a demand for prenatal diagnosis from families with affected offspring. MATERIALS AND METHODS: Intragenic polymorphisms in COL7A1 and flanking microsatellite markers on chromosome 3p21, as well as detection of pathogenetic mutations in families, were used to perform PCR-based prenatal diagnosis from DNA obtained by chorionic villus sampling at 10-15 weeks or amniocentesis at 12-15 weeks gestation in 10 families at risk for recurrence of RDEB. RESULTS: In nine cases, the fetus was predicted to be normal or a clinically unaffected carrier of a mutation in one allele. These predictions have been validated in nine cases by the birth of a healthy child. In one case, an affected fetus was predicted, and the diagnosis was confirmed by fetal skin biopsy. CONCLUSIONS: DNA-based prenatal diagnosis of RDEB offers an early, expedient method of testing which will largely replace the previously available invasive fetal skin biopsy at 18-20 weeks gestation. Images FIG. 1 FIG. 3 PMID:8900535

  3. Renal tubular acidosis type 4 in pregnancy.

    PubMed

    Jakes, Adam Daniel; Baynes, Kevin; Nelson-Piercy, Catherine

    2016-03-17

    We describe the clinical course of renal tubular acidosis (RTA) type 4 in pregnancy, which has not been previously published. Renal tubular acidosis type 4 is a condition associated with increased urinary ammonia secondary to hypoaldosteronism or pseudohypoaldosteronism. Pregnancy may worsen the hyperkalaemia and acidosis of renal tubular acidosis type 4, possibly through an antialdosterone effect. We advise regular monitoring of potassium and pH throughout pregnancy to ensure safe levels are maintained.

  4. Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta.

    PubMed

    Cabral, Wayne A; Perdivara, Irina; Weis, MaryAnn; Terajima, Masahiko; Blissett, Angela R; Chang, Weizhong; Perosky, Joseph E; Makareeva, Elena N; Mertz, Edward L; Leikin, Sergey; Tomer, Kenneth B; Kozloff, Kenneth M; Eyre, David R; Yamauchi, Mitsuo; Marini, Joan C

    2014-06-01

    Cyclophilin B (CyPB), encoded by PPIB, is an ER-resident peptidyl-prolyl cis-trans isomerase (PPIase) that functions independently and as a component of the collagen prolyl 3-hydroxylation complex. CyPB is proposed to be the major PPIase catalyzing the rate-limiting step in collagen folding. Mutations in PPIB cause recessively inherited osteogenesis imperfecta type IX, a moderately severe to lethal bone dysplasia. To investigate the role of CyPB in collagen folding and post-translational modifications, we generated Ppib-/- mice that recapitulate the OI phenotype. Knock-out (KO) mice are small, with reduced femoral areal bone mineral density (aBMD), bone volume per total volume (BV/TV) and mechanical properties, as well as increased femoral brittleness. Ppib transcripts are absent in skin, fibroblasts, femora and calvarial osteoblasts, and CyPB is absent from KO osteoblasts and fibroblasts on western blots. Only residual (2-11%) collagen prolyl 3-hydroxylation is detectable in KO cells and tissues. Collagen folds more slowly in the absence of CyPB, supporting its rate-limiting role in folding. However, treatment of KO cells with cyclosporine A causes further delay in folding, indicating the potential existence of another collagen PPIase. We confirmed and extended the reported role of CyPB in supporting collagen lysyl hydroxylase (LH1) activity. Ppib-/- fibroblast and osteoblast collagen has normal total lysyl hydroxylation, while increased collagen diglycosylation is observed. Liquid chromatography/mass spectrometry (LC/MS) analysis of bone and osteoblast type I collagen revealed site-specific alterations of helical lysine hydroxylation, in particular, significantly reduced hydroxylation of helical crosslinking residue K87. Consequently, underhydroxylated forms of di- and trivalent crosslinks are strikingly increased in KO bone, leading to increased total crosslinks and decreased helical hydroxylysine- to lysine-derived crosslink ratios. The altered crosslink

  5. Abnormal Type I Collagen Post-translational Modification and Crosslinking in a Cyclophilin B KO Mouse Model of Recessive Osteogenesis Imperfecta

    PubMed Central

    Cabral, Wayne A.; Perdivara, Irina; Weis, MaryAnn; Terajima, Masahiko; Blissett, Angela R.; Chang, Weizhong; Perosky, Joseph E.; Makareeva, Elena N.; Mertz, Edward L.; Leikin, Sergey; Tomer, Kenneth B.; Kozloff, Kenneth M.; Eyre, David R.; Yamauchi, Mitsuo; Marini, Joan C.

    2014-01-01

    Cyclophilin B (CyPB), encoded by PPIB, is an ER-resident peptidyl-prolyl cis-trans isomerase (PPIase) that functions independently and as a component of the collagen prolyl 3-hydroxylation complex. CyPB is proposed to be the major PPIase catalyzing the rate-limiting step in collagen folding. Mutations in PPIB cause recessively inherited osteogenesis imperfecta type IX, a moderately severe to lethal bone dysplasia. To investigate the role of CyPB in collagen folding and post-translational modifications, we generated Ppib−/− mice that recapitulate the OI phenotype. Knock-out (KO) mice are small, with reduced femoral areal bone mineral density (aBMD), bone volume per total volume (BV/TV) and mechanical properties, as well as increased femoral brittleness. Ppib transcripts are absent in skin, fibroblasts, femora and calvarial osteoblasts, and CyPB is absent from KO osteoblasts and fibroblasts on western blots. Only residual (2–11%) collagen prolyl 3-hydroxylation is detectable in KO cells and tissues. Collagen folds more slowly in the absence of CyPB, supporting its rate-limiting role in folding. However, treatment of KO cells with cyclosporine A causes further delay in folding, indicating the potential existence of another collagen PPIase. We confirmed and extended the reported role of CyPB in supporting collagen lysyl hydroxylase (LH1) activity. Ppib−/− fibroblast and osteoblast collagen has normal total lysyl hydroxylation, while increased collagen diglycosylation is observed. Liquid chromatography/mass spectrometry (LC/MS) analysis of bone and osteoblast type I collagen revealed site-specific alterations of helical lysine hydroxylation, in particular, significantly reduced hydroxylation of helical crosslinking residue K87. Consequently, underhydroxylated forms of di- and trivalent crosslinks are strikingly increased in KO bone, leading to increased total crosslinks and decreased helical hydroxylysine- to lysine-derived crosslink ratios. The altered

  6. 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…

  7. 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)

  8. Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?

    PubMed

    Arai, K; Zachman, K; Shibasaki, T; Chrousos, G P

    1999-07-01

    Pseudohypoaldosteronism (PHA) is characterized by congenital resistance of the kidney and/or other mineralocorticoid target tissues to aldosterone, resulting in excessive salt wasting. Mineralocorticoid receptor (MR) and postreceptor defects in the aldosterone-responsive amiloride-sensitive sodium channel (ENaC) subunits have been suggested as potential loci of the defect in this disease, whereas recently defects in MR and ENaC subunits were reported in familial PHA cases. Here we studied the ENaC subunit alpha, beta, and gamma complementary DNAs (cDNAs) in a series of five sporadic cases of PHA, whose MR cDNA contained nonconservative homozygous (C944-->T944, Ala241-->Val241) and/or a conservative heterozygous substitutions (A760-->G760, Ileu180-->Val180), which, however, were also present at high frequencies in a control population with apparently normal salt conservation. We found a nonconservative substitution (A2086-->G2086, Thr663-->Ala663) in the alphaENaC in all five of our patients, two of whom were homozygous and three of whom were heterozygous for this alteration, which was also present in the homozygous and heterozygous form in 31% and 64% of control subjects, respectively. We also found a nonconservative homozygous substitution (C1006-->G1006, Pro336-->Ara336) in the betaENaC and three nonconservative and conservative homozygous substitutions (T554-->A554, Trp178-->Arg178; C1526-->G1526, Pro501-->Ala501; T1862-->G1862, Ser614-->Ala614) in the gammaENaC of all five of our patients and in a substantial proportion of control subjects. Interestingly, when the patient group was compared to controls, a significantly increased concurrence of the MR and alphaENaC polymorphisms was found in the patients (P<0.025). We conclude that the changes identified in the cDNA of the three ENaC subunits in the patients with sporadic PHA are polymorphisms, which on their own have no apparent pathophysiological significance. We hypothesize, however, that these polymorphisms

  9. Small operator outwits recession

    SciTech Connect

    Jackson, D.

    1982-12-01

    Explains how Rockcastle, Inc., one of the smallest surface coal mine operators in the West, maintains production during the recession by concentrating on short-term contracts and spot sales to industrial and commercial users. The mining company has selected well established coal brokers to market its product to users such as sugar beet and cement plants, a brewery, steel mill, utility, and a molybdenum mill. Rockcastle produces, on a two-shift schedule, about 1,200 tpd of coal with a total workforce of 20, or approximately 30 tons per manshift. A fleet of 4 scrapers, with dozer-assist in most cases, is capable of removing 5,000 to 6,000 cu yd of overburden and interburden per shift.

  10. 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

  11. 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…

  12. The effect of recessions on gambling expenditures.

    PubMed

    Horváth, Csilla; Paap, Richard

    2012-12-01

    This article examines the influence of the business cycle on expenditures of three major types of legalized gambling activities: Casino gambling, lottery, and pari-mutuel wagering. Empirical results are obtained using monthly aggregated US per capita consumption time series for the period 1959.01-2010.08. Among the three gambling activities only lottery consumption appears to be recession-proof. This series is characterized by a vast and solid growth that exceeds the growth in income and the growth in other gambling sectors. Casino gambling expenditures show a positive growth during expansions and no growth during recessions. Hence, the loss in income during recessions affects casino gambling. However, income shocks which are not directly related to the business cycle do not influence casino gambling expenditures. Pari-mutuel wagering displays an overall negative trend and its average growth rate is smaller than the growth in income, especially during recessions. The findings of this article provide important implications for the gambling industry and for local governments.

  13. Autosomal Recessive Anhidrotic Ectodermal Dysplasia: A Rare Entity

    PubMed Central

    Ghosh, Sangita; Ghosh, Epsita; Dayal, Surabhi

    2014-01-01

    We describe a case of anhidrotic ectodermal dysplasia (AED) with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED) can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED), which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic. PMID:25071285

  14. Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.

    PubMed

    Kugler, W; Pekrun, A; Laspe, P; Erdlenbruch, B; Lakomek, M

    2001-04-01

    Hereditary methemoglobinemia due to reduced nicotin amide adenine dinucleotide (NADH)-cytochrome b5 reductase (b5r) deficiency is classified into an erythrocyte type (I) and a generalized type (II). We investigated the b5r gene of three unrelated patients with types I and II and found four novel mutations. The patient with type I was homozygous for a c.535 G-->A exchange in exon 6 (A179T). The patients with type II were found to be homozygous for a c.757 G-->A transition in exon 9 (V253M) and compound heterozygous for two mutations, respectively. One allele presented a c.379 A-->G transition (M127V). The second allele carried a sequence difference at the invariant 3' splice-acceptor dinucleotide of intron 4 (IVS4-2A-->G) resulting in skipping of exon 5. To characterize a possible effect of this mutation on RNA metabolism, poly(A)(+) RNA was analyzed by RT-PCR and sequencing. The results show that RNA is made from the allele harboring the 3'-splice site mutation. Furthermore, western blot analysis revealed a complete absence of immunologically detectable b5r in skin fibroblasts of this patient. The compound heterozygosity for the splice site and the missense mutations apparently caused hereditary methemoglobinemia type II in this patient. Hum Mutat 17:348, 2001. PMID:11295830

  15. Autosomal recessive epidermolytic palmoplantar keratoderma.

    PubMed

    Alsaleh, Q A; Teebi, A S

    1990-08-01

    Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from the keratotic lesions showed the features of epidermolytic hyperkeratosis. Autosomal recessive inheritance is suggested and the differential diagnosis is discussed.

  16. 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.

  17. Spinocerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia

    SciTech Connect

    Ranum, L.P.W.; Gomez, C.; Orr, H.T.

    1995-09-01

    The ataxias are a complex group of diseases with both environmental and genetic causes. Among the autosomal dominant forms of ataxia the genes for two, spinocerebellar ataxia type 1 (SCA1) and Machado-Joseph disease (MJD), have been isolated. In both of these disorders the molecular basis of disease is the expansion of an unstable CAG trinucleotide repeat. To assess the frequency of the SCA1 and MJD trinucleotide repeat expansions among individuals diagnosed with ataxia, we have collected DNA from individuals representing 311 families with adult-onset ataxia of unknown etiology and screened these samples for trinucleotide repeat expansions within the SCA1 and MJD genes. Within this group there are 149 families with dominantly inherited ataxia. Of these, 3% have SCA1 trinucleotide repeat expansions, whereas 21% were positive for the MJD trinucleotide expansion. Thus, together SCA1 and MJD represent 24% of the autosomal dominant ataxias in our group, and the frequency of MJD is substantially greater than that of SCA1. For the 57 patients with MJD trinucleotide repeat expansions, a strong inverse correlation between CAG repeat size and age at onset was observed (r = -.838). Among the MJD patients, the normal and affected ranges of CAG repeat size are 14-40 and 68-82 repeats, respectively. For SCA1 the normal and affected ranges are much closer, containing 19-38 and 40-81 CAG repeats, respectively. 30 refs., 1 fig., 3 tabs.

  18. Autosomal recessive epidermolytic palmoplantar keratoderma.

    PubMed Central

    Alsaleh, Q A; Teebi, A S

    1990-01-01

    Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from the keratotic lesions showed the features of epidermolytic hyperkeratosis. Autosomal recessive inheritance is suggested and the differential diagnosis is discussed. Images PMID:2145438

  19. 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…

  20. 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)…

  1. Autosomal recessive brachyolmia: early radiological findings.

    PubMed

    Handa, Atsuhiko; Tham, Emma; Wang, Zheng; Horemuzova, Eva; Grigelioniene, Giedre

    2016-11-01

    Brachyolmia (BO) is a heterogeneous group of skeletal dysplasias with skeletal changes limited to the spine or with minimal extraspinal features. BO is currently classified into types 1, 2, 3, and 4. BO types 1 and 4 are autosomal recessive conditions caused by PAPSS2 mutations, which may be merged together as an autosomal recessive BO (AR-BO). The clinical and radiological signs of AR-BO in late childhood have already been reported; however, the early manifestations and their age-dependent evolution have not been well documented. We report an affected boy with AR-BO, whose skeletal abnormalities were detected in utero and who was followed until 10 years of age. Prenatal ultrasound showed bowing of the legs. In infancy, radiographs showed moderate platyspondyly and dumbbell deformity of the tubular bones. Gradually, the platyspondyly became more pronounced, while the bowing of the legs and dumbbell deformities of the tubular bones diminished with age. In late childhood, the overall findings were consistent with known features of AR-BO. Genetic testing confirmed the diagnosis. Being aware of the initial skeletal changes may facilitate early diagnosis of PAPSS2-related skeletal dysplasias. PMID:27544198

  2. 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…

  3. Are streamflow recession characteristics really characteristic?

    NASA Astrophysics Data System (ADS)

    Stoelzle, M.; Stahl, K.; Weiler, M.

    2013-02-01

    Streamflow recession has been investigated by a variety of methods, often involving the fit of a model to empirical recession plots to parameterize a non-linear storage-outflow relationship based on the dQ/dt-Q method. Such recession analysis methods (RAMs) are used to estimate hydraulic conductivity, storage capacity, or aquifer thickness and to model streamflow recession curves for regionalization and prediction at the catchment scale. Numerous RAMs have been published, but little is known about how comparably the resulting recession models distinguish characteristic catchment behavior. In this study we combined three established recession extraction methods with three different parameter-fitting methods to the power-law storage-outflow model to compare the range of recession characteristics that result from the application of these different RAMs. Resulting recession characteristics including recession time and corresponding storage depletion were evaluated for 20 meso-scale catchments in Germany. We found plausible ranges for model parameterization; however, calculated recession characteristics varied over two orders of magnitude. While recession characteristics of the 20 catchments derived with the different methods correlate strongly, particularly for the RAMs that use the same extraction method, not all rank the catchments consistently, and the differences among some of the methods are larger than among the catchments. To elucidate this variability we discuss the ambiguous roles of recession extraction procedures and the parameterization of the storage-outflow model and the limitations of the presented recession plots. The results suggest strong limitations to the comparability of recession characteristics derived with different methods, not only in the model parameters but also in the relative characterization of different catchments. A multiple-methods approach to investigating streamflow recession characteristics should be considered for applications

  4. Are streamflow recession characteristics really characteristic?

    NASA Astrophysics Data System (ADS)

    Stoelzle, M.; Stahl, K.; Weiler, M.

    2012-09-01

    Streamflow recession has been investigated by a variety of methods, often involving the fit of a model to empirical recession plots to parameterize a non-linear storage-outflow relationship. Such recession analysis methods (RAMs) are used to estimate hydraulic conductivity, storage capacity, or aquifer thickness and to model streamflow recession curves for regionalization and prediction at the catchment scale. Numerous RAMs have been published, but little is known about how characteristic the resulting recession models are to distinguish characteristic catchment behavior. In this study we combined three established recession extraction methods with three different parameter-fitting methods to the power-law storage-outflow model to compare the range of recession characteristics that result from the application of these different RAMs. Resulting recession characteristics including recession time and corresponding storage depletion were evaluated for 20 meso-scale catchments in Germany. We found plausible ranges for model parameterization, however, calculated recession characteristics varied over two orders of magnitude. While recession characteristics of the 20 catchments derived with the different methods correlate strongly, particularly for the RAMs that use the same extraction method and while they rank the catchments relatively consistent, there are still considerable differences among the methods. To elucidate this variability we discuss the ambiguous roles of recession extraction procedures and the parameterization of storage-outflow model and the limitations of the presented recession plots. The results suggest strong limitations to the comparability of recession characteristics derived with different methods, not only in the model parameters but also in the relative characterization of different catchments. A multiple methods approach to investigate streamflow recession characteristics should be considered for applications whenever possible.

  5. DINING ROOM. NOTE THE RECESSED PULLS ON THE SLIDING DOORS. ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    DINING ROOM. NOTE THE RECESSED PULLS ON THE SLIDING DOORS. VIEW FACING EAST - Camp H.M. Smith and Navy Public Works Center Manana Title VII (Capehart) Housing, U-Shaped Two-Bedroom Single-Family Type 6, Birch Circle, Elm Drive, Elm Circle, and Date Drive, Pearl City, Honolulu County, HI

  6. CLOSE UP OF THE RECESSED MAIN ENTRY OF THE UNIT ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    CLOSE UP OF THE RECESSED MAIN ENTRY OF THE UNIT - Camp H.M. Smith and Navy Public Works Center Manana Title VII (Capehart) Housing, U-Shaped Two-Bedroom Single-Family Type 6, Birch Circle, Elm Drive, Elm Circle, and Date Drive, Pearl City, Honolulu County, HI

  7. 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

  8. Paradoxical hypertension and salt wasting in Type II Bartter syndrome.

    PubMed

    Chan, Winnie Kwai-Yu; To, Ka Fai; Tong, Joanna H M; Law, Chi Wai

    2012-06-01

    Ante/neonatal Bartter syndrome (BS) is a rare hereditary disorder. It is characterized by renal salt wasting, hypokalaemic metabolic alkalosis, high renin and aldosterone but normal blood pressure. We report a low birth weight newborn baby who presented with repeated apnoea shortly after birth as well as hyponatraemia, hypochloraemia, hyperkalaemia and metabolic acidosis. Her biochemical features mimicked pseudohypoaldosteronism but with initial hypertension, which had not been described in BS. Her subsequent genetic study confirmed two novel heterozygous mutations in the Exon 5 of KCNJ1 compatible with Type II BS. PMID:26069767

  9. Streamflow Recession Analysis Incorporating Human Water Use

    NASA Astrophysics Data System (ADS)

    Thomas, B. F.; Vogel, R. M.

    2011-12-01

    Hydrologic studies of streamflow recessions are common in hydrology, yet nearly all previous studies have ignored the impact of human water withdrawals on the recession behavior of streamflow. The baseflow recession constant (Kb), commonly used in hydrologic models, can be estimated from a hydrologic recession. Resulting estimates of Kb are used widely in rainfall runoff models, low flow forecasting, and estimation of low flow characteristics. The accurate estimation of the baseflow recession constant is critical due to its common use in low flow characterization for water management strategies and Clean Water Act permitting requirements. This study documents the impact of water withdrawals on estimates of streamflow recession constants. We combine existing information on both groundwater and surface water resources and readily available information on human water use. We document that estimates of the baseflow recession constant depend critically upon the ratio of groundwater withdrawals to the average magnitude of baseflows. We document that without careful attention to the impact of groundwater withdrawals, estimates of streamflow recession constants will exhibit significant bias. Observed streamflow response is best approximated by a streamflow recession constant that incorporates human water use.

  10. Treatment of multiple gingival recessions with vista technique: A case series.

    PubMed

    Chatterjee, Anirban; Sharma, Ena; Gundanavar, Gayatri; Subbaiah, Shobha Krishna

    2015-01-01

    Gingival recession is a common manifestation in most populations. Gingival recession is clinically manifested by an apical displacement of the gingival tissues, leading to root surface exposure. Gingival recession may be a concern for patients for a number of reasons such as root hypersensitivity, erosion, root caries, and esthetics (Wennstrom 1996). Recently, new techniques have been suggested for the surgical treatment of multiple adjacent recession type defects. These are mainly derived from the coronally advanced flap, a supraperiosteal envelope technique in combination with a subepithelial connective tissue graft, or its evolution as a tunnel technique. The current case reports introduce a novel, minimally invasive approach applicable for both isolated recession defects as well as multiple contiguous defects in the maxillary anterior region. Access to the surgical site is obtained by means of an approach referred to as vestibular incision subperiosteal tunnel access. PMID:26015680

  11. Gingival recession coverage: 
Do we still need autogenous grafts?

    PubMed

    Kasaj, Adrian

    2016-01-01

    A variety of periodontal plastic surgical techniques have been proposed to obtain root coverage of gingival recession defects. All of the available root coverage procedures are able to provide significant root coverage for Miller Class I and II recession-type defects. However, only the subepithelial connective tissue graft in conjunction with a coronally advanced flap appears consistently effective across all clinical parameters, and is therefore currently considered the gold standard for gingival recession therapy. The major shortcomings of connective tissue graft procedures include patient morbidity associated with the second surgical site and limited availability of palatal donor tissue. More recently, 3D collagen matrices of human and porcine origin have been introduced as possible alternatives to autogenous connective tissue grafts in recession coverage procedures. This paper aims to give an overview on the possible use of collagen matrices as soft tissue substitutes and a possible alternative to connective tissue grafts in the surgical treatment of gingival recession defects. PMID:27660847

  12. Treatment of multiple gingival recessions with vista technique: A case series.

    PubMed

    Chatterjee, Anirban; Sharma, Ena; Gundanavar, Gayatri; Subbaiah, Shobha Krishna

    2015-01-01

    Gingival recession is a common manifestation in most populations. Gingival recession is clinically manifested by an apical displacement of the gingival tissues, leading to root surface exposure. Gingival recession may be a concern for patients for a number of reasons such as root hypersensitivity, erosion, root caries, and esthetics (Wennstrom 1996). Recently, new techniques have been suggested for the surgical treatment of multiple adjacent recession type defects. These are mainly derived from the coronally advanced flap, a supraperiosteal envelope technique in combination with a subepithelial connective tissue graft, or its evolution as a tunnel technique. The current case reports introduce a novel, minimally invasive approach applicable for both isolated recession defects as well as multiple contiguous defects in the maxillary anterior region. Access to the surgical site is obtained by means of an approach referred to as vestibular incision subperiosteal tunnel access.

  13. 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…

  14. 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…

  15. Understanding the cellular and molecular mechanisms of dominant and recessive inheritance in genetics course.

    PubMed

    Wanjin, Xing; Morigen, Morigen

    2015-01-01

    In Mendellian genetics, the dominance and recessiveness are used to describe the functional relationship between two alleles of one gene in a heterozygote. The allele which constitutes a phenotypical character over the other is named dominant and the one functionally masked is called recessive. The definitions thereby led to the creation of Mendel's laws on segregation and independent assortment and subsequent classic genetics. The discrimination of dominance and recessiveness originally is a requirement for Mendel's logical reasoning, but now it should be explained by cellular and molecular principles in the modern genetics. To answer the question raised by students of how the dominance and recessiveness are controlled, we reviewed the recent articles and tried to summarize the cellular and molecular basis of dominant and recessive inheritance. Clearly, understanding the essences of dominant and recessive inheritance requires us to know the dissimilarity of the alleles and their products (RNA and/or proteins), and the way of their function in cells. The alleles spatio-temporally play different roles on offering cells, tissues or organs with discernible phenotypes, namely dominant or recessive. Here, we discuss the changes of allele dominance and recessiveness at the cellular and molecular levels based on the variation of gene structure, gene regulation, function and types of gene products, in order to make students understand gene mutation and function more comprehensively and concretely.

  16. 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.

  17. Parkin gene causing benign autosomal recessive juvenile parkinsonism.

    PubMed

    Nisipeanu, P; Inzelberg, R; Abo Mouch, S; Carasso, R L; Blumen, S C; Zhang, J; Matsumine, H; Hattori, N; Mizuno, Y

    2001-06-12

    Autosomal recessive juvenile parkinsonism (AR-JP) is an early-onset parkinsonism caused by exonic deletions or point mutations in the parkingene. The relationship between the type of the genetic defect and the clinical presentation, the response to therapy, and the evolution have not been yet determined. The authors describe a single-basepair deletion at nucleotide 202 in exon 2 of the parkin gene in a kindred with a benign clinical course. PMID:11402119

  18. Treatment of gingival recession in two surgical stages: Free gingival graft and connective tissue grafting.

    PubMed

    Henriques, Paulo Sergio Gomes; Nunes, Marcelo Pereira; Pelegrine, Andre Antonio

    2011-01-01

    This report describes a clinical case of severe Miller Class II gingival recession treated by two stages of surgery that combined a free gingival graft and connective tissue grafting. First, a free gingival graft (FGG) was performed to obtain an adequate keratinized tissue level. Three months later, a connective tissue graft (CTG) was performed to obtain root coverage. The results indicated that the FGG allows for a gain in the keratinized tissue level and the CTG allows for root coverage with decreased recession level after 16 months. Therefore, for this type of specific gingival recession, the combination of FGG and CTG can be used.

  19. Genetics Home Reference: autosomal recessive hypotrichosis

    MedlinePlus

    ... erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair ... recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J Invest Dermatol. 2006 Jun;126(6):1286- ...

  20. 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

  1. 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)

  2. 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.

  3. Implant-Related Gingival Recession: Pilot Case Series Presents Novel Technique and Scoring Template.

    PubMed

    El Askary, Abd El Salam; Ghallab, Noha A; Tan, Shuh-Chern; Rosen, Paul S; Shawkat, Ahmad

    2016-07-01

    This article introduces a novel protocol for the predictable treatment of Class II division 2 implantrelated gingival recession and presents an innovative acrylic template for scoring the peri-implant soft-tissue gain, used before and after treatment. Ten patients with Class II division 2 single-implant-related gingival recession received combined double-papillary flap approximation and rotated subepithelial connective tissue grafting from the palate, along with any preferred optimal grafting technique that suits the type of preexisting defect. Clinical gingival recession was recorded using a scoring template at 4, 6, and 9 months postoperatively. At the end of the 9-month follow-up period, 80% of the cases showed improved soft-tissue coverage; two patients showed significant wound complications that were related to poor home-care measures. The scoring method used can be considered a diagnostic and prognostic tool for better understanding of implant-related gingival recession. PMID:27548399

  4. Aeroacoustical Study of the Tgv Pantograph Recess

    NASA Astrophysics Data System (ADS)

    NOGER, C.; PATRAT, J. C.; PEUBE, J.; PEUBE, J. L.

    2000-03-01

    The general focus of this aerodynamic noise research, induced by turbulent incompressible flow, is to improve our knowledge of acoustic production mechanisms in the TGV pantograph recess in order to be able to reduce the radiated noise. This work is performed under contract with SNCF as a part of the German-French Cooperation DEUFRAKO K2, and is supported by French Ministries for Transport and Research. Previous studies on TGV noise source locations (DEUFRAKO K) have identified the pantograph recess as one of the important aerodynamic noise sources, for speeds higher than 300 km/h, due to flow separation. The pantograph recess is a very complex rectangular cavity, located both on the power car and the first coach roofs of the TGV, and has not been studied before due to the complex shapes. Its aeroacoustic features are investigated experimentally in a low-subsonic wind tunnel, on a realistic 1/7th scale mock-up both with and without pantographs. Flow velocities, estimated with hot-wire anemometry, and parietal visualizations show the flow to reattach on the recess bottom wall and to separate again at the downstream face. Wall pressure fluctuations and “acoustic” measurements using 14 and 12 in microphones respectively are also measured to qualify the flow: no aerodynamic or acoustic oscillations are observed. The study indicates that the pantograph recess has a different behaviour compared to the usual cavity grazing flows.

  5. Management and prevention of gingival recession.

    PubMed

    Merijohn, George K

    2016-06-01

    Gingival recession is highly prevalent worldwide. It increases the risk for root caries and can interfere with patient comfort, function and esthetics. Progressive gingival recession also increases the risk of tooth loss secondary to clinical attachment loss. Although mitigating the causes of gingival recession decreases its incidence and severity, implementing practical management and prevention strategies in the clinical setting can be challenging. Identification of susceptible patients and evaluating them for the presence of modifiable risk exposures are essential first steps in developing action plans for appropriate interventions. This article reviews these steps and introduces chairside tools that can help in the selection of interventions designed to reduce the risk of future gingival recession and may also facilitate patient communication. Practical decision-making criteria are proposed for when and how to monitor gingival recession, for deciding when a patient is a candidate for surgical evaluation or referral to a periodontist, and, if surgery is the treatment of choice, what should be considered as key surgical outcome objectives. PMID:27045439

  6. "Universal" Recession Curves and their Geomorphological Roots

    NASA Astrophysics Data System (ADS)

    Marani, M.; Biswal, B.

    2011-12-01

    The basic structural organization of channel networks, and of the connected hillslopes, have been shown to be intimately linked to basin responses to rainfall events, leading to geomorphological theories of the hydrologic response. Here, We identify a previously undetected link between the river network morphology and key recession curves properties. We show that the power-law exponent of -dQ/dt vs. Q curves is related to the power-law exponent of N(l) vs. G(l) curves (which we show to be connected to Hack's law), where l is the downstream distance from the channel heads, N(l) is the number of channel reaches exactly located at a distance l from their channel head, and G(l) is the total length of the network located at a distance greater or equal to l from channel heads. We then generalize the power-law expressions of recession curves, to identify "universal" curves, independent of the initial moisture conditions and of basin area, by making the -dQ/dt vs. Q curve non-dimensional using an index discharge representative of initial moisture conditions. We subsequently rescale the geomorphic recession curve, N(l) vs. G(l), producing a collapse of the geomorphic recession curves constructed from the DTM's of 67 US study basins. Finally, by use of the specific discharge u = Q/A, we link the two previous results and define the specific recession curves, whose collapse across basins within homogeneous geographical areas lends further, decisive, support to the notion that the statistical properties of observational recession curves bear the signature of the geomorphological structure of the networks producing them.

  7. 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.

  8. 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.

  9. 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…

  10. [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.

  11. The Recession and Education: Seize New Opportunities!

    ERIC Educational Resources Information Center

    Haskvitz, Alan

    2011-01-01

    The teaching profession has long been thought of as recession proof. Indeed, that may have been one of the reasons why teachers took far lower starting salaries right out of college. Perhaps the greatest common feature of teachers, besides their desire to serve society in a humanitarian way, may be the lack of risk-taking the occupation previously…

  12. Shop Steward Resistance in the Recession.

    ERIC Educational Resources Information Center

    Spencer, Bruce

    1985-01-01

    This article draws on work carried out in a British brewery, refutes the claim that the recession has made trade unions irrelevant to managerial concerns, and argues that cohesive, factor-based shop steward organization can resist a management onslaught. (Author/CT)

  13. 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.

  14. 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…

  15. 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…

  16. Weathering the recession in college health.

    PubMed

    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 colleagues cope with the current situation.

  17. Testing Faces Ups and Downs Amid Recession

    ERIC Educational Resources Information Center

    Sawchuk, Stephen

    2009-01-01

    As the recession crimps education budgets, states are beginning to pare the number of standardized tests they give, particularly those that no longer factor into state or federal accountability decisions. At the district level, though, it's a different story. Despite pressure not to cut staffing and programs, many districts are preserving local…

  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. 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.

  20. 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.

  1. 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

  2. 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.

  3. A new classification system for gingival and palatal recession.

    PubMed

    Kumar, Ashish; Masamatti, Sujata Surendra

    2013-03-01

    Various classifications have been proposed to classify gingival recession. Miller's classification of gingival recession is most widely followed. With a wide array of cases in daily clinical practice, it is often difficult to classify numerous gingival recession cases according to defined criteria of the present classification systems. To propose a new classification system that gives a comprehensive depiction of recession defect that can be used to include cases that cannot be classified according to present classifications. A separate classification system for palatal recessions (PR) is also proposed. This article outlines the limitations of present classification systems and also the inability to classify PR. A new comprehensive classification system is proposed to classify recession on the basis of the position of interdental papilla and buccal/lingual/palatal recessions. PMID:23869122

  4. A statistical model for the effect of casing treatment recesses on compressor rotor performance

    SciTech Connect

    Nezym, Vitaliy

    2007-08-15

    The tip clearance between a compressor's rotating blades and its casing has an unfavorable influence on performance. By applying an abradable coating (insert) to the casing over the rotating blades, this tip clearance can be reduced to practically zero. A rather frequent variant is for the rotor blade tips to carve an entire annular recess in this coating. Rectangular recesses of various configurations have been tested in several different researches. The results of these investigations are processed using the Group Method of Data Handling. A statistical model is developed that predicts the influence of rectangular recesses on a compressor stage's efficiency and stable operating (flow) range. The model takes into account the six principal geometric parameters of a rectangular recess, as well as the Lieblein rotor diffusion factor. Analysis of the derived model has also determined which of these parameters are the most influential. Rectangular entire annular recesses are one of the simplest and most progressive types of casing treatment, and this paper concludes with an overview of existing research that supports this claim. (author)

  5. Recession Vs Myotomy–Comparative Analysis of Two Surgical Procedures of Weakening Inferior Oblique Muscle Overaction

    PubMed Central

    Alajbegovic-Halimic, Jasmina; Zvizdic, Denisa; Sahbegovic-Holcner, Amra; Kulanic-Kuduzovic, Amira

    2015-01-01

    Introduction: Inferior oblique overaction (IOOA) can be primary or secondary, isolated or combined to other types of horizontal deviation, mostly with esotropias. Surgical weakening of IOOA means several techniques like; recession, myotomy, myectomy, anteroposition etc. Goals: we analyzed the effect of inferior oblique muscle surgical weakening comparing two groups of patients with primary hypertropia. Material and methods: In 5-years retrospective study, we observed 33 patients on which we did the surgical procedure of weakening inferior muscle overaction by two methods; recession and myotomy. Results: In total number of 33 patients, there were 57,6% male and 42,4% female patients with average age of 10,6±7,5 (in range of 4–36). There was 33,3% of isolated primary hypertropias, and 66,7% combined with esotropias. At 23 (69,9%) patients the recession surgical procedure was done, and with 10 (30,1%) myotomy. Better effect and binocularity was in 65,2% of patients in recession group which was statistically significant with significance level of p<0,0, χ2=5,705; p=0,021. Conclusion: Comparing of two surgical procedures of weakening inferior oblique muscles overaction, recession is better procedure than myotomy. PMID:26261384

  6. 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.

  7. An Observational Assessment of Physical Activity Levels and Social Behaviour during Elementary School Recess

    ERIC Educational Resources Information Center

    Roberts, Simon J.; Fairclough, Stuart J.; Ridgers, Nicola D.; Porteous, Conor

    2013-01-01

    Objective: The purpose of the present study was to assess children's physical activity, social play behaviour, activity type and social interactions during elementary school recess using a pre-validated systematic observation system. Design: Cross-sectional. Setting: Two elementary schools located in Merseyside, England. Method: Fifty-six…

  8. Apres le Deluge at State U: A Comprehensive Public University Responds to the Great Recession

    ERIC Educational Resources Information Center

    Skinner, Richard A.; Miller, Emily R.

    2013-01-01

    In this article, the authors describe one institution--East Carolina University--that they think is representative of an important type and a large proportion of American universities, the comprehensive public university, and its responses to the lingering Great Recession. As a group, comprehensives handle almost 40 per cent of the total student…

  9. A Review of Graduate STEM Degrees by Gender in the Context of the Great Recession

    ERIC Educational Resources Information Center

    Ryland, Austin

    2013-01-01

    The purpose of this study was to review the graduate gender divide in STEM fields in the context of the recent Great Recession. The rationale for this study was a continuation of the pipeline paradigm at the graduate level. The goal was also to examine the gender divide in STEM across select institutional types, such as land-grant institutions, as…

  10. CALiPER Exploratory Study Office and Classroom Recessed Troffer Lighting - ARRA Report

    SciTech Connect

    Miller, Naomi J.

    2012-09-30

    This report is a brief summary of a project exploring LED versions of a very common luminaire type, the recessed troffer. It describes the planning and preparation for a mockup of 24 pairs of troffers in a simulated office space, where observations and comments were recorded.

  11. 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

  12. Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome.

    PubMed Central

    Richieri-Costa, A; Garcia da Silva, S M; Frota-Pessoa, O

    1984-01-01

    Four sibs of non-consanguineous parents who had myotonia from late infancy are described. Mild to moderate mental retardation, severe bone abnormalities of the vertebral column (mainly in the thoracolumbar region), and short stature were also observed. Autosomal recessive inheritance is demonstrated. These cases are compared with reported cases of the Schwartz-Jampel syndrome. Images PMID:6716408

  13. [Autosomal recessive ethnic diseases of Czech Gypsies].

    PubMed

    Seeman, P; Sisková, D

    2006-01-01

    Roma (Gypsy ethnic) form a genetically isolated ethnical group of the identical origin with the world population of 10 to 14 millions derived from a limited number of so-called founders. Majority (about 8 millions) of Roma ethnic live in Europe, namely at Balkan and in the southwest of Europe. Roma have specific hereditary diseases, namely those caused by recessive genetic mutations. The molecular-genetic mechanism has been recently elucidated and confirmed in several diseases of the Roma population. Owing to the significant proportion of Roma in the population, patients with those diseases are possible to meet also in the Czech Republic. However, the diagnostics of those diseases is frequently difficult and they are often under diagnosed or misdiagnosed. The article gives examples of autosomal recessive diseases, which can be confirmed at the DNA level which occur in Roma population of the Czech Republic: syndrome of congenital cataract, facial dysmorphism and demyelinating neuropathy, non-syndromic prelingual deafness with GJB2 gene impairment and the congenital myastenic syndrome. PMID:16921785

  14. [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

  15. [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

  16. Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.

    PubMed

    Percy, Melanie J; Lappin, Terry R

    2008-05-01

    Some 60 years ago, Quentin Gibson reported the first hereditary disorder involving an enzyme when he deduced that familial methaemoglobinaemia was caused by an enzymatic lesion associated with the glycolysis pathway in red blood cells. This disorder, now known as recessive congenital methaemoglobinaemia (RCM), is caused by NADH-cytochrome b5 reductase (cb(5)r) deficiency. Two distinct clinical forms, types I and II, have been recognized, both characterized by cyanosis from birth. In type II, the cyanosis is accompanied by neurological impairment and reduced life expectancy. Cytochrome b(5) reductase is composed of one FAD and one NADH binding domain linked by a hinge region. It is encoded by the CYB5R3 (previously known as DIA1) gene and more than 40 mutations have been described, some of which are common to both types of RCM. Mutations associated with type II tend to cause incorrect splicing, disruption of the active site or truncation of the protein. At present the description of the sequence variants of cb(5)r in the literature is confusing, due to the use of two conventions which differ by one codon position. Herein we propose a new system for nomenclature of cb(5)r based on recommendations of the Human Genome Variation Society. The development of a heterologous expression system has allowed the impact of naturally occurring variants of cb(5)r to be assessed and has provided insight into the function of cb(5)r. PMID:18318771

  17. Impact of recession on Swiss pension program.

    PubMed

    McArdle, F B

    1978-04-01

    Legislation drafted in Switzerland in 1975--77 aims at countering the effects of inflation and recession by bringing increased revenues into the system, reducing expenditures, devising a mechanism to adjust pensions automatically, and improving income maintenance for the unemployed. The proposed legislation to place the social security system on a sound financial basis now needs voter approval in a referendum. Swiss voters meanwhile rejected (in mid-1977) a government-proposed value-added tax designed to finance increasing government contributions during 1978-82. Still to be resolved, therefore, is the problem of how the government will finance higher contributions and still achieve its staged goal of a balanced budget. PMID:644419

  18. Intimate Partner Violence in the Great Recession.

    PubMed

    Schneider, Daniel; Harknett, Kristen; McLanahan, Sara

    2016-04-01

    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

  19. 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.

  20. The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.

    PubMed

    Oetting, William S; Pietsch, Jacy; Brott, Marcia J; Savage, Sarah; Fryer, James P; Summers, C Gail; King, Richard A

    2009-03-01

    Mutations in the gene for tyrosinase, the key enzyme in melanin synthesis, are responsible for oculocutaneous albinism type 1, and more than 100 mutations of this gene have been identified. The c.1205G > A variant of the tyrosinase gene (rs1126809) predicts p.R402Q and expression studies show thermolabile enzyme activity for the variant protein. The Q402 allele has been associated with autosomal recessive ocular albinism when it is in trans with a tyrosinase gene mutation associated with oculocutaneous albinism type 1. We have identified 12 families with oculocutaneous albinism type 1 that exhibit segregation of the c.1205G > A variant with a known pathologic mutation on the homologous chromosome, and demonstrate no genetic association between autosomal recessive oculocutaneous albinism and the Q402 variant. We conclude that the codon 402 variant of the tyrosinase gene is not associated with albinism. PMID:19208379

  1. Parents' Victory in Reclaiming Recess for Their Children

    ERIC Educational Resources Information Center

    Zygmunt-Fillwalk, Eva; Bilello, Teresa Evanko

    2005-01-01

    This article discusses the issue of schools limiting the opportunities for children's physical, cognitive, social-emotional, and creative development that recess affords. Red Rover, hopscotch, jump rope, chase, telling secrets, hanging out, making friends, losing friends--these familiar pursuits of childhood recess are vividly memorable. While…

  2. 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…

  3. Social Skills Intervention during Elementary School Recess: A Visual Analysis.

    ERIC Educational Resources Information Center

    Anderson-Butcher, Dawn; Newsome, W. Sean; Nay, Stephanie

    2003-01-01

    This study builds on two studies that explored the effect of a social skills intervention on problem behaviors displayed by elementary school children during recess. Findings conclude that social skills intervention significantly decreased problem behaviors among school children at recess. Implications for behavioral management and healthy school…

  4. 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…

  5. 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…

  6. 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…

  7. The Fourth R: Recess and Its Link to Learning.

    ERIC Educational Resources Information Center

    Waite-Stupiansky, Sandra; Findlay, Marcia

    2001-01-01

    Review of research on recess shows how its presence or absence affects children's brain development, health and physical development, attention, memory, social and emotional adjustment, language development, and classroom behavior. Despite demonstrated benefits, recess is endangered by pressures on schools to increase achievement. (Contains 52…

  8. 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…

  9. Recession in a linear stepper motor based on piezoelectric actuator and electrorheological clampers

    NASA Astrophysics Data System (ADS)

    Li, Cuihong; Meng, Yonggang; Tian, Yu

    2012-12-01

    A linear inchworm-type stepper motor based on piezoelectric actuator and comb shape electrorheological (ER) clampers was developed and tested. A recession phenomenon in the movement of the motor was found and was significantly affected by the driving voltage of the piezoelectric actuator and ER fluids. A dynamic model to analyze the mechanism of the recession was established. The force ratio of the viscoelastic clamping force (applied high electric field) to the viscous damping force (zero field) of ER fluids is the critical factor which determines the recession. The ratio is also affected by the extension or contraction rate of the actuator during movement, which is affected by the charging and discharging processes. With a relatively large distance between the clamper electrodes and a small displacement activated by the extension of the piezoelectric actuator, the instantaneous shear rate might not be sufficiently high, preventing ER fluids from attaining a shear-thickened and high-strength state. The ratio of yield strength to the viscous strength of ER fluids during movement should be as large as possible to reduce the recession displacement.

  10. "United Pedicle Flap" for management of multiple gingival recessions.

    PubMed

    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

  11. Improved Structure and Function in Autosomal Recessive Polycystic Rat Kidneys with Renal Tubular Cell Therapy.

    PubMed

    Kelly, K J; Zhang, Jizhong; Han, Ling; Kamocka, Malgorzata; Miller, Caroline; Gattone, Vincent H; Dominguez, Jesus H

    2015-01-01

    Autosomal recessive polycystic kidney disease is a truly catastrophic monogenetic disease, causing death and end stage renal disease in neonates and children. Using PCK female rats, an orthologous model of autosomal recessive polycystic kidney disease harboring mutant Pkhd1, we tested the hypothesis that intravenous renal cell transplantation with normal Sprague Dawley male kidney cells would improve the polycystic kidney disease phenotype. Cytotherapy with renal cells expressing wild type Pkhd1 and tubulogenic serum amyloid A1 had powerful and sustained beneficial effects on renal function and structure in the polycystic kidney disease model. Donor cell engraftment and both mutant and wild type Pkhd1 were found in treated but not control PCK kidneys 15 weeks after the final cell infusion. To examine the mechanisms of global protection with a small number of transplanted cells, we tested the hypothesis that exosomes derived from normal Sprague Dawley cells can limit the cystic phenotype of PCK recipient cells. We found that renal exosomes originating from normal Sprague Dawley cells carried and transferred wild type Pkhd1 mRNA to PCK cells in vivo and in vitro and restricted cyst formation by cultured PCK cells. The results indicate that transplantation with renal cells containing wild type Pkhd1 improves renal structure and function in autosomal recessive polycystic kidney disease and may provide an intra-renal supply of normal Pkhd1 mRNA.

  12. Improved Structure and Function in Autosomal Recessive Polycystic Rat Kidneys with Renal Tubular Cell Therapy

    PubMed Central

    Kelly, K. J.; Zhang, Jizhong; Han, Ling; Kamocka, Malgorzata; Miller, Caroline; Dominguez, Jesus H.

    2015-01-01

    Autosomal recessive polycystic kidney disease is a truly catastrophic monogenetic disease, causing death and end stage renal disease in neonates and children. Using PCK female rats, an orthologous model of autosomal recessive polycystic kidney disease harboring mutant Pkhd1, we tested the hypothesis that intravenous renal cell transplantation with normal Sprague Dawley male kidney cells would improve the polycystic kidney disease phenotype. Cytotherapy with renal cells expressing wild type Pkhd1 and tubulogenic serum amyloid A1 had powerful and sustained beneficial effects on renal function and structure in the polycystic kidney disease model. Donor cell engraftment and both mutant and wild type Pkhd1 were found in treated but not control PCK kidneys 15 weeks after the final cell infusion. To examine the mechanisms of global protection with a small number of transplanted cells, we tested the hypothesis that exosomes derived from normal Sprague Dawley cells can limit the cystic phenotype of PCK recipient cells. We found that renal exosomes originating from normal Sprague Dawley cells carried and transferred wild type Pkhd1 mRNA to PCK cells in vivo and in vitro and restricted cyst formation by cultured PCK cells. The results indicate that transplantation with renal cells containing wild type Pkhd1 improves renal structure and function in autosomal recessive polycystic kidney disease and may provide an intra-renal supply of normal Pkhd1 mRNA. PMID:26136112

  13. Urbanization and the global malaria recession

    PubMed Central

    2013-01-01

    Background The past century has seen a significant contraction in the global extent of malaria transmission, resulting in over 50 countries being declared malaria free, and many regions of currently endemic countries eliminating the disease. Moreover, substantial reductions in transmission have been seen since 1900 in those areas that remain endemic today. Recent work showed that this malaria recession was unlikely to have been driven by climatic factors, and that control measures likely played a significant role. It has long been considered, however, that economic development, and particularly urbanization, has also been a causal factor. The urbanization process results in profound socio-economic and landscape changes that reduce malaria transmission, but the magnitude and extent of these effects on global endemicity reductions are poorly understood. Methods Global data at subnational spatial resolution on changes in malaria transmission intensity and urbanization trends over the past century were combined to examine the relationships seen over a range of spatial and temporal scales. Results/Conclusions A consistent pattern of increased urbanization coincident with decreasing malaria transmission and elimination over the past century was found. Whilst it remains challenging to untangle whether this increased urbanization resulted in decreased transmission, or that malaria reductions promoted development, the results point to a close relationship between the two, irrespective of national wealth. The continuing rapid urbanization in malaria-endemic regions suggests that such malaria declines are likely to continue, particularly catalyzed by increasing levels of direct malaria control. PMID:23594701

  14. 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.

  15. 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

  16. 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.

  17. 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

  18. Economic recession and headache-related hospital admissions.

    PubMed

    Chinta, Ravi; Rao, M B; Narendran, Vivek; Malla, Ganesh; Joshi, Hem

    2013-01-01

    Incidence of headaches across different regions and its relationship to unemployment rates in the United States before and during an economic recession was evaluated. Years 2008 and 2009 were determined as recessionary period. Headache-related admissions, particularly the uncomplicated headaches, increased significantly during recession. Proportion of women with headaches has increased and the age group of 25-54 years was the most affected during the recession. The hospital charges have increased even though the average length and charge of stay decreased. These findings are consistent with our understanding of effects of stress and unemployment on psychological and physical health.

  19. 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. PMID:12417523

  20. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

    PubMed

    Montecchiani, Celeste; Pedace, Lucia; Lo Giudice, Temistocle; Casella, Antonella; Mearini, Marzia; Gaudiello, Fabrizio; Pedroso, José L; Terracciano, Chiara; Caltagirone, Carlo; Massa, Roberto; St George-Hyslop, Peter H; Barsottini, Orlando G P; Kawarai, Toshitaka; Orlacchio, Antonio

    2016-01-01

    Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but much of the genetic basis of the disease is still unexplained. Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼ 40% of autosomal recessive juvenile amyotrophic lateral sclerosis. The overlap of axonal Charcot-Marie-Tooth disease with both diseases, as well as the common autosomal recessive inheritance pattern of thin corpus callosum and axonal Charcot-Marie-Tooth disease in three related patients, prompted us to analyse the ALS5/SPG11/KIAA1840 gene in affected individuals with autosomal recessive axonal Charcot-Marie-Tooth disease. We investigated 28 unrelated families with autosomal recessive axonal Charcot-Marie-Tooth disease defined by clinical, electrophysiological, as well as pathological evaluation. Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6). Mitochondrial disorders related to Charcot-Marie-Tooth disease type 2 were also excluded by sequencing POLG and TYMP genes. An additional locus for autosomal recessive Charcot

  1. Frontal headache induced by osteoma of frontal recess.

    PubMed

    Kim, Kyung Soo

    2013-01-01

    We reported a case of osteoma involving the frontal recess, which presented as frontal headache and reviewed literatures. Also, this case highlights that sinunasal osteomas can cause pain by local mass effects, referred pain, or prostaglandin E2-mediated mechanisms.

  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. Recessed Downlights: A New Take on an Old Standby

    SciTech Connect

    Gordon, Kelly L.; McCullough, Jeffrey J.

    2004-01-02

    Recessed can downlights are a very popular form of lighting with many new homes containing 20 or more can lights. This trade magazine article describes PNNL's work with DOE's Emerging Technologies Program to promote energy-efficient recessed can downlights. PNNL manages the Recessed Can Downlights Project, which encourages manufacturers to produce energy-efficient recessed cans and tests them to verify that they have the following features: use pin-based CFL bulbs rated for 10,000 hours of life; use airtight housing to prevent air leakage into attics; are IC-rated for direct contact with insulation; have electronic ballasts for quiet, flicker-free operation; and have a min. light output of 900 initial lumens. Can lights that qualify are promoted through a DOE website. This is under DOE's Office of Energy Efficiency and Renewable Energy Building Technologies Program.

  5. 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.

  6. 23. DETAIL OF TRELLIS BEAMS SHOWING RECESSED LIGHTING FIXTURES, WITH ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    23. DETAIL OF TRELLIS BEAMS SHOWING RECESSED LIGHTING FIXTURES, WITH ONE BEAM CURVED TO FIT AROUND TRUNK OF FORMER TREE. - Fallingwater, State Route 381 (Stewart Township), Ohiopyle, Fayette County, PA

  7. 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.

  8. Powered instrumentation in dissection of the frontal recess.

    PubMed

    Christmas, D A; Krouse, J H

    1996-06-01

    The use of powered instrumentation in functional endoscopic sinus surgery has become very popular due to its safety and thoroughness. An area which has been more problematic in the use of this technique has been the frontal recess, due to its anatomic location and associated risk of serious complications. We have done a number of powered dissections of the frontal recess as a surgical treatment of refractory frontal sinusitis, and find that it is extremely safe and effective. The ability of the powered devices to preserve normal mucosa allows an adequate surgical approach while significantly decreasing the postoperative risk of frontal recess stenosis and reocclusion. We feel that powered dissection of the frontal recess offers a significant advantage over standard techniques in this anatomic location.

  9. 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.

  10. Production Recesses for Replaceable Cutting Inserts of Milling Tools

    NASA Astrophysics Data System (ADS)

    Kousal, Lukáš; Sadílek, Marek

    2014-12-01

    This article describes the production of recesses for replaceable cutting inserts of milling tools. The recess manufacture is exemplified on a D20 shanktype milling cutter with three replaceable cutting inserts. A new production technology and its operating cycle are demonstrated. A com-parison of the old and the new technologies shows the percentage saving of change cycles and used tools, including overall evaluation of the tech-nology.

  11. Experts offer differing views on the impact of a recession.

    PubMed

    Anderson, H J

    1990-12-01

    What are the risks of a prolonged recession for hospitals? Although health care would probably not be hurt as much as other industries by a lengthy downturn, financial experts are saying a continuation of the current soft economy would add to hospitals' already long list of financial woes. The coming recession "will exacerbate the problems for hospitals already facing fiscal stress," says Glenn Wagner, an investment banking consultant based in New York City. PMID:2242892

  12. 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…

  13. 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

  14. Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations

    SciTech Connect

    Rudnik-Schoeneborn, S.; Zerres, K.; Hahnen, E.

    1996-11-01

    With the evidence that deletions in the region responsible for childhood- and juvenile-onset proximal spinal muscular atrophy (SMA) are on chromosome 5 it is now possible to confirm autosomal recessive inheritance in most patients (denoted {open_quotes}SMA 5q{close_quotes}). Homozygous deletions in the telomeric copy of the survival motor neuron (SMN) gene can be detected in 95%-98% of patients with early-onset SMA (types I and II), whereas as many as 10%-20% of patients with the milder, juvenile-onset form (type III SMA) do not show deletions. In families with affected subjects in two generations, it is difficult to decide whether they are autosomal dominantly inherited or caused by three independent recessive mutations (pseudodominant inheritance). Given an incidence of >1/10,000 of SMA 5q, patients with autosomal recessive SMA have an {approximately}1% recurrence risk to their offspring. Although the dominant forms are not linked to chromosome 5q, pseudodominant families can now be identified by the presence of homozygous deletions in the SMN gene. 5 refs., 1 fig., 1 tab.

  15. Superroot, a recessive mutation in Arabidopsis, confers auxin overproduction.

    PubMed Central

    Boerjan, W; Cervera, M T; Delarue, M; Beeckman, T; Dewitte, W; Bellini, C; Caboche, M; Van Onckelen, H; Van Montagu, M; Inzé, D

    1995-01-01

    We have isolated seven allelic recessive Arabidopsis mutants, designated superroot (sur1-1 to sur1-7), displaying several abnormalities reminiscent of auxin effects. These characteristics include small and epinastic cotyledons, an elongated hypocotyl in which the connection between the stele and cortical and epidermal cells disintegrates, the development of excess adventitious and lateral roots, a reduced number of leaves, and the absence of an inflorescence. When germinated in the dark, sur1 mutants did not develop the apical hook characteristic of etiolated seedlings. We were able to phenocopy the Sur1- phenotype by supplying auxin to wild-type seedlings, to propagate sur1 explants on phytohormone-deficient medium, and to regenerate shoots from these explants by the addition of cytokinins alone to the culture medium. Analysis by gas chromatography coupled to mass spectrometry indicated increased levels of both free and conjugated indole-3-acetic acid. sur1 was crossed to the mutant axr2 and the altered-auxin response mutant ctr1. The phenotype of both double mutants was additive. The sur1 gene was mapped on chromosome 2 at 0.5 centimorgans from the gene encoding phytochrome B. PMID:8589625

  16. Social Communication Effects of Peer-Mediated Recess Intervention for Children with Autism

    PubMed Central

    McFadden, Brandon; Kamps, Debra; Heitzman-Powell, Linda

    2015-01-01

    Children with ASD face enormous challenges in the area of social functioning. Research has shown that impairments in social functioning distinguish this population from both typically developing children and children with disabilities. This study incorporated several evidence-based social skills-teaching procedures (i.e., direct instruction, priming, prompting, peer-mediation, contingent reinforcement, and token economies) directly in the recess setting to increase appropriate social behaviors for four children with ASD (ages 6–8). Elements of Peer Networks and Pivotal Response Training (two types of social skills intervention packages in the literature) were included. Results showed significant increases in social communication between focus children and their peers, as well as generalization of skills to non-intervention recesses. PMID:26312064

  17. Streamflow recession patterns can help unravel the role of climate and humans in landscape co-evolution

    NASA Astrophysics Data System (ADS)

    Bogaart, Patrick W.; van der Velde, Ype; Lyon, Steve W.; Dekker, Stefan C.

    2016-04-01

    Traditionally, long-term predictions of river discharges and their extremes include constant relationships between landscape properties and model parameters. However, due to the co-evolution of many landscape properties more sophisticated methods are necessary to quantify future landscape-hydrological model relationships. As a first step towards such an approach we use the Brutsaert and Nieber (1977) analysis method to characterize streamflow recession behaviour of ≈ 200 Swedish catchments within the context of global change and landscape co-evolution. Results suggest that the Brutsaert-Nieber parameters are strongly linked to the climate, soil, land use, and their interdependencies. Many catchments show a trend towards more non-linear behaviour, meaning not only faster initial recession but also slower recession towards base flow. This trend has been found to be independent from climate change. Instead, we suggest that land cover change, both natural (restoration of natural soil profiles in forested areas) and anthropogenic (reforestation and optimized water management), is probably responsible. Both change types are characterised by system adaptation and change, towards more optimal ecohydrological conditions, suggesting landscape co-evolution is at play. Given the observed magnitudes of recession changes during the past 50 years, predictions of future river discharge critically need to include the effects of landscape co-evolution. The interconnections between the controls of land cover and climate on river recession behaviour, as we have quantified in this paper, provide first-order handles to do so.

  18. 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

  19. The Effects of Different Recess Timing Regimens on Preschoolers' Classroom Attention

    ERIC Educational Resources Information Center

    Holmes, Robyn M.; Pellegrini, Anthony D.; Schmidt, Susan L.

    2006-01-01

    This study examined the effects of different recess timing regimens on preschoolers classroom attention. Using cognitive immaturity theory, we predicted that attention to a classroom task would be greater after a recess break. We also examined the extent to which different recess timing regimens related to post-recess attention. Participants were…

  20. 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…

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

    PubMed Central

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

    2015-01-01

    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. PMID:25941393

  3. Coronally Advanced Flap with Different Designs in the Treatment of Gingival Recession: A Comparative Controlled Randomized Clinical Trial.

    PubMed

    Zucchelli, Giovanni; Stefanini, M; Ganz, S; Mazzotti, Claudio; Mounssif, Ilham; Marzadori, Matteo

    2016-01-01

    The aim of this parallel double-blind randomized controlled clinical trial was to describe a modified approach using the coronally advanced flap (CAF) with triangular design and to compare its efficacy, in terms of root coverage and esthetics, with a trapezoidal type of CAF. A sample of 50 isolated Miller Class I and II gingival recessions with at least 1 mm of keratinized tissue apical to the defects were treated with CAF. Of these recessions, 25 were randomly treated with trapezoidal CAF (control group) while the other 25 (test group) were treated with a modified triangular CAF. The clinical and esthetic evaluations, made by the patient and an independent periodontist, were performed 3 months, 6 months, and 1 year after the surgery. No statistically significant difference was demonstrated between the two CAF groups in terms of recession reduction, complete root coverage, or 6-month and 1-year patient esthetic scores. Better 3-month patient esthetic evaluations and better periodontist root coverage, color match, and contiguity assessments were reported after triangular CAF. Trapezoidal CAF was associated with greater incidence of keloid formation. Single-type gingival recessions can be successfully covered with both types of CAF. The triangular CAF should be preferred for esthetically demanding patients. PMID:27100801

  4. THE GREAT RECESSION AND RECENT EMPLOYMENT TRENDS AMONG SECONDARY STUDENTS IN THE UNITED STATES*

    PubMed Central

    Staff, Jeremy; Johnson, Monica Kirkpatrick; Patrick, Megan E.; Schulenberg, John E.

    2014-01-01

    The Great Recession had substantial effects on the labor market in the United States, as elsewhere. To what extent did secondary students’ employment decline during this time? Which students are leaving the labor market? Are reductions in employment concentrated in particular jobs? To answer these questions, we use data from the Monitoring the Future study, an ongoing study of secondary students in the United States. More specifically, we examine recent trends in teenage employment using 6 cohorts each of 8th, 10th, and 12th graders (from 2006 to 2011, spanning before, during and after the Great Recession). Results show a gradual decline in school year employment since 2006, including the years after the official end of the recession. Employment during the school year is especially low among 8th and 10th graders, Hispanic and non-Hispanic Black youth, and students from disadvantaged backgrounds (based upon parental education), though the recent drop in work has varied little by population subgroups. The decline in employment is, however, concentrated among the oldest students, and working intensely (over 20 hours per week) has dropped more than working moderate hours. Students are more likely to babysit and do lawn work and less likely to hold jobs in office, clerical, and sales positions than in years past. These patterns and recent shifts in job type suggest some degree of job replacement by older workers. PMID:25642296

  5. Barriers for recess physical activity: a gender specific qualitative focus group exploration

    PubMed Central

    2014-01-01

    Background Many children, in particular girls, do not reach the recommended amount of daily physical activity. School recess provides an opportunity for both boys and girls to be physically active, but barriers to recess physical activity are not well understood. This study explores gender differences in children’s perceptions of barriers to recess physical activity. Based on the socio-ecological model four types of environmental barriers were distinguished: natural, social, physical and organizational environment. Methods Data were collected through 17 focus groups (at 17 different schools) with in total 111 children (53 boys) from fourth grade, with a mean age of 10.4 years. The focus groups included an open group discussion, go-along group interviews, and a gender segregated post-it note activity. A content analysis of the post-it notes was used to rank the children’s perceived barriers. This was verified by a thematic analysis of transcripts from the open discussions and go-along interviews. Results The most frequently identified barriers for both boys and girls were weather, conflicts, lack of space, lack of play facilities and a newly-found barrier, use of electronic devices. While boys and girls identified the same barriers, there were both inter- and intra-gender differences in the perception of these barriers. Weather was a barrier for all children, apart from the most active boys. Conflicts were perceived as a barrier particularly by those boys who played ballgames. Girls said they would like to have more secluded areas added to the school playground, even in large schoolyards where lack of space was not a barrier. This aligned with girls’ requests for more “hanging-out” facilities, whereas boys primarily wanted activity promoting facilities. Conclusion Based on the results from this study, we recommend promoting recess physical activity through a combination of actions, addressing barriers within the natural, social, physical and

  6. 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. PMID:24045057

  7. Inferior oblique recession in thyroid-related orbitopathy.

    PubMed

    Salchow, Daniel J

    2015-06-01

    Thyroid-related orbitopathy is a form of orbital inflammation associated with thyroid dysfunction, developing in many patients with Graves disease. Fibrosis of the inferior rectus muscle can lead to restricted elevation and vertical ocular misalignment, which may be improved by recessing this muscle. In some patients, vertical misalignment persists after surgical weakening of one or more vertical rectus muscles. In this case series, unilateral inferior oblique recession as a secondary procedure after inferior rectus recession reduced hypertropia in primary gaze from 9(Δ) ± 3(Δ) to 1.3(Δ) ± 1.5(Δ) (mean ± standard deviation) and largest hypertropia in side gaze from 18.3 ± 2.1(Δ) to 3.3(Δ) ± 1.5(Δ). Postoperatively, all 3 patients were diplopia free in primary and downgaze. PMID:26059675

  8. Coastal cliff recession: the use of probabilistic prediction methods

    NASA Astrophysics Data System (ADS)

    Lee, E. M.; Hall, J. W.; Meadowcroft, I. C.

    2001-10-01

    A range of probabilistic methods is introduced for predicting coastal cliff recession, which provide a means of demonstrating the potential variability in such predictions. They form the basis for risk-based land-use planning, cliff management and engineering decision-making. Examples of probabilistic models are presented for a number of different cliff settings: the simulation of recession on eroding cliffs; the use of historical records and statistical experiments to model the behaviour of cliffs affected by rare, episodic landslide events; the adaptation of an event tree approach to assess the probability of failure of protected cliffs, taking into account the residual life of the existing defences; and the evaluation of the probability of landslide reactivation in areas of pre-existing landslide systems. These methods are based on a geomorphological assessment of the episodic nature of the recession process, together with historical records.

  9. 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

  10. Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

    PubMed Central

    Abbasi-Moheb, Lia; Mertel, Sara; Gonsior, Melanie; Nouri-Vahid, Leyla; Kahrizi, Kimia; Cirak, Sebahattin; Wieczorek, Dagmar; Motazacker, M. Mahdi; Esmaeeli-Nieh, Sahar; Cremer, Kirsten; Weißmann, Robert; Tzschach, Andreas; Garshasbi, Masoud; Abedini, Seyedeh S.; Najmabadi, Hossein; Ropers, H. Hilger; Sigrist, Stephan J.; Kuss, Andreas W.

    2012-01-01

    With a prevalence between 1 and 3%, hereditary forms of intellectual disability (ID) are among the most important problems in health care. Particularly, autosomal-recessive forms of the disorder have a very heterogeneous molecular basis, and genes with an increased number of disease-causing mutations are not common. Here, we report on three different mutations (two nonsense mutations, c.679C>T [p.Gln227∗] and c.1114C>T [p.Gln372∗], as well as one splicing mutation, g.6622224A>C [p.Ile179Argfs∗192]) that cause a loss of the tRNA-methyltransferase-encoding NSUN2 main transcript in homozygotes. We identified the mutations by sequencing exons and exon-intron boundaries within the genomic region where the linkage intervals of three independent consanguineous families of Iranian and Kurdish origin overlapped with the previously described MRT5 locus. In order to gain further evidence concerning the effect of a loss of NSUN2 on memory and learning, we constructed a Drosophila model by deleting the NSUN2 ortholog, CG6133, and investigated the mutants by using molecular and behavioral approaches. When the Drosophila melanogaster NSUN2 ortholog was deleted, severe short-term-memory (STM) deficits were observed; STM could be rescued by re-expression of the wild-type protein in the nervous system. The humans homozygous for NSUN2 mutations showed an overlapping phenotype consisting of moderate to severe ID and facial dysmorphism (which includes a long face, characteristic eyebrows, a long nose, and a small chin), suggesting that mutations in this gene might even induce a syndromic form of ID. Moreover, our observations from the Drosophila model point toward an evolutionarily conserved role of RNA methylation in normal cognitive development. PMID:22541559

  11. Albedo control of seasonal South Polar cap recession on Mars

    NASA Astrophysics Data System (ADS)

    Schmidt, Frédéric; Douté, Sylvain; Schmitt, Bernard; Vincendon, Mathieu; Bibring, Jean-Pierre; Langevin, Yves; Omega Team

    2009-04-01

    Over the last few decades, General Circulation Models (GCM) have been used to simulate the current martian climate. The calibration of these GCMs with the current seasonal cycle is a crucial step in understanding the climate history of Mars. One of the main climatic signals currently used to validate GCMs is the annual atmospheric pressure cycle. It is difficult to use changes in seasonal deposits on the surface of Mars to calibrate the GCMs given the spectral ambiguities between CO 2 and H 2O ice in the visible range. With the OMEGA imaging spectrometer covering the near infra-red range, it is now possible to monitor both types of ice at a spatial resolution of about 1 km. At global scale, we determine the change with time of the Seasonal South Polar Cap (SSPC) crocus line, defining the edge of CO 2 deposits. This crocus line is not symmetric around the geographic South Pole. At local scale, we introduce the snowdrop distance, describing the local structure of the SSPC edge. Crocus line and snowdrop distance changes can now be used to calibrate GCMs. The albedo of the seasonal deposits is usually assumed to be a uniform and constant parameter of the GCMs. In this study, albedo is found to be the main parameter controlling the SSPC recession at both global and local scale. Using a defrost mass balance model (referred to as D-frost) that incorporates the effect of shadowing induced by topography, we show that the global SSPC asymmetry in the crocus line is controlled by albedo variations. At local scale, we show that the snowdrop distance is correlated with the albedo variability. Further GCM improvements should take into account these two results. We propose several possibilities for the origin of the asymmetric albedo control. The next step will be to identify and model the physical processes that create the albedo differences.

  12. Geomorphic signatures on Brutsaert base flow recession analysis

    NASA Astrophysics Data System (ADS)

    Mutzner, Raphaël.; Bertuzzo, Enrico; Tarolli, Paolo; Weijs, Steven V.; Nicotina, Ludovico; Ceola, Serena; Tomasic, Nevena; Rodriguez-Iturbe, Ignacio; Parlange, Marc B.; Rinaldo, Andrea

    2013-09-01

    This paper addresses the signatures of catchment geomorphology on base flow recession curves. Its relevance relates to the implied predictability of base flow features, which are central to catchment-scale transport processes and to ecohydrological function. Moving from the classical recession curve analysis method, originally applied in the Finger Lakes Region of New York, a large set of recession curves has been analyzed from Swiss streamflow data. For these catchments, digital elevation models have been precisely analyzed and a method aimed at the geomorphic origins of recession curves has been applied to the Swiss data set. The method links river network morphology, epitomized by time-varying distribution of contributing channel sites, with the classic parameterization of recession events. This is done by assimilating two scaling exponents, β and bG, with |dQ/dt| ∝ Qβ where Q is at-a-station gauged flow rate and N(l) ∝ N>(l>)∝G>(l>)bG where l is the downstream distance from the channel heads receding in time, N(l) is the number of draining channel reaches located at distance l from their heads, and G(l) is the total drainage network length at a distance greater or equal to l, the active drainage network. We find that the method provides good results in catchments where drainage density can be regarded as spatially constant. A correction to the method is proposed which accounts for arbitrary local drainage densities affecting the local drainage inflow per unit channel length. Such corrections properly vanish when the drainage density become spatially constant. Overall, definite geomorphic signatures are recognizable for recession curves, with notable theoretical and practical implications.

  13. Correlation between the Limbus-Insertion Distance of the Lateral Rectus Muscle and Lateral Rectus Recession Surgery in Intermittent Exotropia

    PubMed Central

    Lee, Ju-Yeun; Lee, Eun Jung; Park, Kyung-Ah; Oh, Sei Yeul

    2016-01-01

    The aim of this study was to investigate whether the limbus-insertion distance (LID) of the lateral rectus (LR) muscle can be a useful indicator for predicting the surgical effect of recession surgery in intermittent exotropia (IXT). Patients who underwent unilateral or bilateral LR recession for the basic type of IXT were included. The distance between the corneal limbus and the posterior edge of the insertion of LR muscle (limbus-insertion distance) was measured intraoperatively using surgical calipers (graded with 0.25 mm precision). We calculated the actual dose-response effect as the difference between the angle of preoperative deviation and the angle of postoperative deviation, and then divided the figure by the total amount of recession at postoperative months 1, 3, and 6. The correlation between the limbus-insertion distance (LID) of LR muscle and each dose-response effect was statistically analyzed. A total of 60 subjects were enrolled in this study. The mean LID of LR muscle was 5.8±0.7 mm. The dose-response effect was 3.2±1.0 prism diopters (PD)/mm at postoperative month 1, 3.4±1.0 PD/mm at postoperative month 3, and 3.4±1.1 PD/mm at postoperative month 6. The LID of the LR muscle was significantly correlated with dose-response effects in cases of unilateral and bilateral LR recession at postoperative months 3 and 6 (P = 0.01, <0.01, 0.04 and <0.01 respectively). As the LID of the LR muscle increased by 1 mm, the dose-response effect increased by 0.2PD/mm in unilateral LR recession, and by 0.4 PD/mm in bilateral LR recession at postoperative month 6. In conclusion, the LID of the LR muscle can be used as one predictor of the recession effect to assist in surgical planning for IXT. Moreover, undercorrection at the time of LR recession might be considered in patients with long LID of the LR muscle. PMID:27463100

  14. 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.

  15. 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.…

  16. 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…

  17. 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…

  18. 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

  19. 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

  20. 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

  1. 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. PMID:26494409

  2. 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

  3. 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…

  4. 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…

  5. 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…

  6. 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,…

  7. 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…

  8. Elevation deficiency in children with recessive RDH12-related retinopathy.

    PubMed

    AlBakri, Amani; Alkuraya, Fowzan S; Khan, Arif O

    2015-12-01

    Children with retinal dystrophies often have nonspecific strabismus, but vertical incomitant deviations are uncommon. We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy. All were found to harbor recessive mutations in retinal dehydrogenase 12 (RDH12). PMID:26691045

  9. 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)

  10. Recess, Physical Education, and Elementary School Student Outcomes

    ERIC Educational Resources Information Center

    Dills, Angela K.; Morgan, Hillary N.; Rotthoff, Kurt W.

    2011-01-01

    Today's children experience a decreased amount of time at recess and fewer physical education (PE) classes throughout the school day. Breaks for physical activity limit class time for academics, potentially reducing learning. However, breaks may improve alertness and achievement. Using the Early Childhood Longitudinal Survey Kindergarten Class of…

  11. 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

  12. 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

  13. 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,…

  14. The Effects of Alaska's Economic Recession on Anchorage Households.

    ERIC Educational Resources Information Center

    Foster, Karen Pyle; And Others

    1988-01-01

    This publication is based on two surveys of the same Anchorage, Alaska households taken in June and November 1987 to study the effects of a strong recession of the previous two years. Different kinds of households were queried about household incomes, housing status, members' occupations, moving plans, and expectations about the financial future.…

  15. Following the Cuts: How Is the Recession Affecting Faculty Work?

    ERIC Educational Resources Information Center

    Lounder, Andrew; Waugaman, Chelsea; Kenyon, Mark; Levine, Amy; Meekins, Matthew; O'Meara, KerryAnn

    2011-01-01

    The recession of 2008-2009 and the continuing decline in local, state, and federal funds available to support higher education have resulted in serious budget cuts and belt-tightening. Given that faculty constitute an institution's most costly resource, it was not surprising, though it is nonetheless disheartening, to learn of the University of…

  16. More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes

    PubMed Central

    Pearson, Toni S.

    2016-01-01

    Background The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia. Hyperkinetic movement disorders occur in a significant proportion of patients, and may sometimes be the presenting motor symptom. Presentations with involuntary movements rather than ataxia are diagnostically challenging, and are likely under-recognized. Methods A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia–telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus). Results Involuntary movements occur in the majority of patients with ataxia–telangiectasia and AOA1, and less frequently in patients with AOA2, Friedreich ataxia, and ataxia with vitamin E deficiency. Clinical presentations with an isolated hyperkinetic movement disorder in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia–telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia). Discussion An awareness of atypical presentations facilitates early and accurate diagnosis in these challenging cases. Recognition of involuntary movements is important not only for diagnosis, but also because of the potential for effective targeted symptomatic treatment. PMID:27536460

  17. Economic recession and fertility in the developed world.

    PubMed

    Sobotka, Tomáš; Skirbekk, Vegard; Philipov, Dimiter

    2011-01-01

    This article reviews research on the effects of economic recessions on fertility in the developed world. We study how economic downturns, as measured by various indicators, especially by declining GDP levels, falling consumer confidence, and rising unemployment, were found to affect fertility. We also discuss particular mechanisms through which the recession may have influenced fertility behavior, including the effects of economic uncertainty, falling income, changes in the housing market, and rising enrollment in higher education, and also factors that influence fertility indirectly such as declining marriage rates. Most studies find that fertility tends to be pro-cyclical and often rises and declines with the ups and downs of the business cycle. Usually, these aggregate effects are relatively small (typically, a few percentage points) and of short durations; in addition they often influence especially the timing of childbearing and in most cases do not leave an imprint on cohort fertility levels. Therefore, major long-term fertility shifts often continue seemingly uninterrupted during the recession—including the fertility declines before and during the Great Depression of the 1930s and before and during the oil shock crises of the 1970s. Changes in the opportunity costs of childbearing and fertility behavior during economic downturn vary by sex, age, social status, and number of children; childless young adults are usually most affected. Furthermore, various policies and institutions may modify or even reverse the relationship between recessions and fertility. The first evidence pertaining to the recent recession falls in line with these findings. In most countries, the recession has brought a decline in the number of births and fertility rates, often marking a sharp halt to the previous decade of rising fertility rates. PMID:22066128

  18. Economic recession and fertility in the developed world.

    PubMed

    Sobotka, Tomáš; Skirbekk, Vegard; Philipov, Dimiter

    2011-01-01

    This article reviews research on the effects of economic recessions on fertility in the developed world. We study how economic downturns, as measured by various indicators, especially by declining GDP levels, falling consumer confidence, and rising unemployment, were found to affect fertility. We also discuss particular mechanisms through which the recession may have influenced fertility behavior, including the effects of economic uncertainty, falling income, changes in the housing market, and rising enrollment in higher education, and also factors that influence fertility indirectly such as declining marriage rates. Most studies find that fertility tends to be pro-cyclical and often rises and declines with the ups and downs of the business cycle. Usually, these aggregate effects are relatively small (typically, a few percentage points) and of short durations; in addition they often influence especially the timing of childbearing and in most cases do not leave an imprint on cohort fertility levels. Therefore, major long-term fertility shifts often continue seemingly uninterrupted during the recession—including the fertility declines before and during the Great Depression of the 1930s and before and during the oil shock crises of the 1970s. Changes in the opportunity costs of childbearing and fertility behavior during economic downturn vary by sex, age, social status, and number of children; childless young adults are usually most affected. Furthermore, various policies and institutions may modify or even reverse the relationship between recessions and fertility. The first evidence pertaining to the recent recession falls in line with these findings. In most countries, the recession has brought a decline in the number of births and fertility rates, often marking a sharp halt to the previous decade of rising fertility rates.

  19. Effects of the spring snowmelt recession on abiotic and biotic conditions in northern Sierra Nevada CA rivers with varying flow regimes

    NASA Astrophysics Data System (ADS)

    Yarnell, S. M.; Peek, R.; Viers, J. H.

    2012-12-01

    Recent research has discussed the importance of the spring snowmelt recession in montane environments for driving physical and biological stream processes and supporting the success of native riverine species adapted to its predictability, yet there have been no field-based studies that directly address the relationship between the snowmelt recession and stream ecology. There are a variety of studies that explore the relationship between the flow regime and an individual species, the flow regime and riparian habitat, and flow and sediment movement. However, there are few, if any, studies that attempt to delineate the relationship between recession flows and stream ecology or quantify key characteristics of the flow regime beyond determinations of minimum instream flows or peak magnitudes of geomorphic flows. Regulated flow management issues such as suitable ramping rates to transition from peak flows to baseflow or a suitable duration of flooding that provides the greatest habitat heterogeneity during the ecologically-sensitive spring season have not previously been addressed. In this study, we examined the geomorphic, hydraulic and riparian habitat in relation to aquatic biological diversity at six stream study sites across two basins with varying flow regime types: unimpaired, semi-impaired (regulated-bypass reaches), and fully impaired (regulated-peaking or regulated-augmented reaches). In two very different water year types (2011-wet, 2012-dry), we quantified the variability in the spring flow regime using flow metrics (e.g. daily recession rate, timing) and compared it to variability in abiotic stream conditions (e.g. diversity of hydraulic habitat, diversity of riparian habitat) and diversity of biotic conditions (e.g. algal abundance, EPT index). In addition, we analyzed the relationship between habitat heterogeneity and species diversity across flow regime types in both water years. Results indicate both flow regime and water year type contribute to the

  20. Monitoring of Refractory wall recession using radar technique

    SciTech Connect

    University of missouri

    2003-12-30

    Furnaces are the most crucial components in the glass and metallurgical industry. Like any other components in an industry, furnaces require periodic maintenance and repair. Today, furnaces are being operated at higher temperatures and for longer periods of time thus increasing the rate of wear and tear on the furnace refractory lining. As a result of the competitive market facing these industries, longer furnace lifetime with shorter maintenance downtime are increasingly required. Higher fuel consumption, low production and safety are issues that accompany delayed maintenance. Consequently, there is a need to know the state of a refractory wall to prevent premature or unnecessary maintenance shutdowns. For many years the observation skills of an experienced operator has been the primary source of evaluating the wear associated with a refractory wall. The rate of regression of a refractory lining depends on the type of the refractory lining, the materials Monitoring of Refractory Wall Recession Using Frequency-Modulated Continuous-Wave (FM-CW) Radar Techniques: A Proof-of-Concept Study, Final Report, Submitted to the Department of Energy (DOE), September 2003. being melted, seepage, mechanical stresses, and temperature. Moreover, the regression of a refractory lining is also not uniform throughout a furnace and it is more prominent at the metal line along the sidewalls as this region is exposed to hot gaseous byproducts and flowing molten material. Hence, more accurate measurement techniques are required to determine the local residual thickness of a refractory lining so as to utilize the refractory lining to the maximum extent possible. The use of isotope radiators, thermocouples and endoscopes has also been investigated for monitoring regression. These techniques are capable of providing scanned thermal images showing the profile of the refractory wall. However, these techniques can only provide relative profile information and cannot provide absolute thickness

  1. Recess and Reading Achievement of Early Childhood Students in Public Schools

    ERIC Educational Resources Information Center

    Yesil Dagli, Ummuhan

    2012-01-01

    In recent years, schools have tended to eliminate recess period and to devote more time to instruction in order to increase academic achievement. Using a nationally representative sample, this study examined reading scores of students who experienced different numbers of recess days in a week, and different number of times and length of recess in…

  2. 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…

  3. 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…

  4. Give Me a Break! Can Strategic Recess Scheduling Increase On-Task Behaviour for First Graders?

    ERIC Educational Resources Information Center

    Fagerstrom, Todd; Mahoney, Kate

    2006-01-01

    The purpose of this study was to determine whether strategically scheduled recess breaks throughout the school day will increase student on-task behaviours during the time when students work independently. As an intervention for this action research study, recess breaks were given more often but for less time; recess breaks were scheduled before…

  5. 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...

  6. 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…

  7. Phenotypic characterization of recessive gene knockout rat models of Parkinson's disease.

    PubMed

    Dave, Kuldip D; De Silva, Shehan; Sheth, Niketa P; Ramboz, Sylvie; Beck, Melissa J; Quang, Changyu; Switzer, Robert C; Ahmad, Syed O; Sunkin, Susan M; Walker, Dan; Cui, Xiaoxia; Fisher, Daniel A; McCoy, Aaron M; Gamber, Kevin; Ding, Xiaodong; Goldberg, Matthew S; Benkovic, Stanley A; Haupt, Meredith; Baptista, Marco A S; Fiske, Brian K; Sherer, Todd B; Frasier, Mark A

    2014-10-01

    Recessively inherited loss-of-function mutations in the PTEN-induced putative kinase 1(Pink1), DJ-1 (Park7) and Parkin (Park2) genes are linked to familial cases of early-onset Parkinson's disease (PD). As part of its strategy to provide more tools for the research community, The Michael J. Fox Foundation for Parkinson's Research (MJFF) funded the generation of novel rat models with targeted disruption ofPink1, DJ-1 or Parkin genes and determined if the loss of these proteins would result in a progressive PD-like phenotype. Pathological, neurochemical and behavioral outcome measures were collected at 4, 6 and 8months of age in homozygous KO rats and compared to wild-type (WT) rats. Both Pink1 and DJ-1 KO rats showed progressive nigral neurodegeneration with about 50% dopaminergic cell loss observed at 8 months of age. ThePink1 KO and DJ-1 KO rats also showed a two to three fold increase in striatal dopamine and serotonin content at 8 months of age. Both Pink1 KO and DJ-1 KO rats exhibited significant motor deficits starting at 4months of age. However, Parkin KO rats displayed normal behaviors with no neurochemical or pathological changes. These results demonstrate that inactivation of the Pink1 or DJ-1 genes in the rat produces progressive neurodegeneration and early behavioral deficits, suggesting that these recessive genes may be essential for the survival of dopaminergic neurons in the substantia nigra (SN). These MJFF-generated novel rat models will assist the research community to elucidate the mechanisms by which these recessive genes produce PD pathology and potentially aid in therapeutic development. PMID:24969022

  8. Frequency of effective wave activity and the recession of coastal bluffs: Calvert Cliffs, Maryland

    USGS Publications Warehouse

    Wilcock, P.R.; Miller, D.S.; Shea, R.H.; Kerkin, R.T.

    1998-01-01

    The Calvert Cliffs, Chesapeake Bay, Maryland, USA, erode by direct wave undercutting or by freeze/thaw erosion accompanied by wave removal of slope debris. Directly undercut slopes recede more rapidly, with long-term rates exceeding 1.0 m/yr; freeze/thaw slopes recede at rates approaching 0.5 m/yr. The frequency of wave height and water level at the shoreline is estimated for eleven sites based on a 37-year wind record, estimates of storm surge, offshore wave geometry, nearshore wave transformation, and breaking wave type. Locations experiencing the largest slope recession are not uniformly those with the largest cumulative wave energy; the resistance to erosion of the slope toe must also be accounted for. An index of relative wave strength is defined as the ratio of wave pressure T and the cohesive strength S of the slope material. For the Calvert Cliffs, a minimum relative wave strength for initiating erosion of intact material is 0.05 < T/S < 0.1. A cumulative duration of ???50 hours per year for T/S ??? 0.1 distinguishes undercut and nonundercut slopes and recession rates greater or lesser than 0.5 m/yr. The relative wave strength index may be used to identify sites at risk of increased erosion. At one site with a small historical erosion rate, the loss of a protective beach and associated decrease in toe elevation caused a positive shift in the frequency of large T/S. Direct wave undercutting and increased slope recession may be anticipated at this site, as indicated by the development of an undercut notch during the course of the study.

  9. 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. PMID:27216551

  10. Serous retinal detachment after trabeculectomy in angle recession glaucoma

    PubMed Central

    Roy, Avik Kumar; Padhy, Debananda

    2015-01-01

    An 18-year-old male with 360 degree angle recession after blunt trauma in his right eye developed uncontrolled intraocular pressure (IOP) despite four antiglaucoma medications (AGM) with advancing disc damage. He underwent trabeculectomy with intraoperative mitomycin-c (MMC) application. There was an intraoperative vitreous prolapse which was managed accordingly. On post-surgery day 1, he had shallow choroidal detachment superiorly with non-recordable IOP. This was deteriorated 1 week postoperatively as choroidal detachment proceeded to serous retinal detachment. He was started with systemic steroid in addition to topical route. The serous effusions subsided within 2 weeks time. At the last follow up at 3 months, he was enjoying good visual acuity, deep anterior chamber, diffuse bleb, an IOP in low teens off any AGM and attached retina. This case highlights the rare occurrence of serous retinal detachment after surgical management of angle recession glaucoma. PMID:27625959

  11. Gingival Veneer: A Novel Technique of Masking Gingival Recession

    PubMed Central

    Pillai, Arpita; Zade, R.; Amirishetty, Ramesh; Shetty, Sunaina

    2015-01-01

    One of the most distressing aspects of periodontitis is the unesthetic appearance of maxillary and mandibular anteriors. The elongation of the crowns due to root exposure and increased interdental spacing results in unesthetic appearance. Surgical procedures for gingival recession coverage do not have acceptable results in cases of severe gingival recession. So nonsurgical methods like gingival veneers should be considered as a treatment modality in such cases. This article aims to revisit the gingival veneer: its uses, advantages, disadvantages, and its fabrication. The case discussed here highlight clinical situation where the gingival veneer prosthesis helped in achieving optimum esthetics and patient satisfaction thus proving to be a feasible and simple treatment modality in certain clinical cases. This may offer a good interim solution for patients who may wish to have time to consider their options of more advanced and complex treatment. PMID:25738090

  12. 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.

  13. Serous retinal detachment after trabeculectomy in angle recession glaucoma

    PubMed Central

    Roy, Avik Kumar; Padhy, Debananda

    2015-01-01

    An 18-year-old male with 360 degree angle recession after blunt trauma in his right eye developed uncontrolled intraocular pressure (IOP) despite four antiglaucoma medications (AGM) with advancing disc damage. He underwent trabeculectomy with intraoperative mitomycin-c (MMC) application. There was an intraoperative vitreous prolapse which was managed accordingly. On post-surgery day 1, he had shallow choroidal detachment superiorly with non-recordable IOP. This was deteriorated 1 week postoperatively as choroidal detachment proceeded to serous retinal detachment. He was started with systemic steroid in addition to topical route. The serous effusions subsided within 2 weeks time. At the last follow up at 3 months, he was enjoying good visual acuity, deep anterior chamber, diffuse bleb, an IOP in low teens off any AGM and attached retina. This case highlights the rare occurrence of serous retinal detachment after surgical management of angle recession glaucoma.

  14. Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

    PubMed

    Boerkoel, C F; Takashima, H; Stankiewicz, P; Garcia, C A; Leber, S M; Rhee-Morris, L; Lupski, J R

    2001-02-01

    The periaxin gene (PRX) encodes two PDZ-domain proteins, L- and S-periaxin, that are required for maintenance of peripheral nerve myelin. Prx(-/-) mice develop a severe demyelinating peripheral neuropathy, despite apparently normal initial formation of myelin sheaths. We hypothesized that mutations in PRX could cause human peripheral myelinopathies. In accordance with this, we identified three unrelated Dejerine-Sottas neuropathy patients with recessive PRX mutations-two with compound heterozygous nonsense and frameshift mutations, and one with a homozygous frameshift mutation. We mapped PRX to 19q13.13-13.2, a region recently associated with a severe autosomal recessive demyelinating neuropathy in a Lebanese family (Delague et al. 2000) and syntenic to the location of Prx on murine chromosome 7 (Gillespie et al. 1997). PMID:11133365

  15. 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

  16. Massachusetts dental establishments in 2011: after the last recession.

    PubMed

    Waldman, H Barry; Perlman, Steven P

    2013-01-01

    Census Bureau reports for 2007 and 2011 (before and after the last recession) were used to develop data for "average" dental establishments in the counties of Massachusetts. Any changes should be considered while bearing in mind the American Dental Association (ADA) 2013 report indicating that spending for dental services has stagnated. In terms of these findings, the need for continued monitoring of dental establishment activities beyond the confines of one's own facility is emphasized. PMID:24428029

  17. Medial rectus re-recession in undercorrected esotropia.

    PubMed

    Biedner, B; Yassur, Y; David, R

    1992-01-01

    Conventional surgical management of surgically undercorrected esotropia includes bilateral lateral rectus resection, marginal myotomy, and Faden operation. During a 3-year period, 10 patients with surgically undercorrected esotropia had medial rectus re-recession 13.5 mm from the limbus. Successful binocular realignment (to 10 prism diopters or less residual binocular misalignment) was achieved in 9 of the 10 cases for both near and distance measurements.

  18. A probably distinct autosomal recessive thoraco-limb dysplasia.

    PubMed Central

    Rivera, H; Perez-Salas, J M; Nazara, Z; Ramirez, M L

    1988-01-01

    A Mexican mestizo family is reported in which two opposite sexed sibs, born to consanguineous parents, had a skeletal dysplasia. The salient features were a bell shaped thorax owing to short ribs, short limbed dwarfism, pelvic hypoplasia, dislocatable radial heads, elongated distal fibulae, and improvement with age. It is concluded that the present observation probably represents a distinct autosomal recessive thoraco-limb dysplasia identifiable at birth. Images PMID:3184141

  19. FOXE3 plays a significant role in autosomal recessive microphthalmia.

    PubMed

    Reis, Linda M; Tyler, Rebecca C; Schneider, Adele; Bardakjian, Tanya; Stoler, Joan M; Melancon, Serge B; Semina, Elena V

    2010-03-01

    FOXE3 forkhead transcription factor is essential to lens development in vertebrates. The eyes of Foxe3/foxe3-deficient mice and zebrafish fail to develop normally. In humans, autosomal dominant and recessive mutations in FOXE3 have been associated with variable phenotypes including anterior segment anomalies, cataract, and microphthalmia. We undertook sequencing of FOXE3 in 116 probands with a spectrum of ocular defects ranging from anterior segment dysgenesis and cataract to anophthalmia/microphthalmia. Recessive mutations in FOXE3 were found in four of 26 probands affected with bilateral microphthalmia (15% of all bilateral microphthalmia and 100% of consanguineous families with this phenotype). FOXE3-positive microphthalmia was accompanied by aphakia and/or corneal defects; no other associated systemic anomalies were observed in FOXE3-positive families. The previously reported c.720C > A (p.C240X) nonsense mutation was identified in two additional families in our sample and therefore appears to be recurrent, now reported in three independent microphthalmia families of varied ethnic backgrounds. Several missense variants were identified at varying frequencies in patient and control groups with some apparently being race-specific, which underscores the importance of utilizing race/ethnicity-matched control populations in evaluating the relevance of genetic screening results. In conclusion, FOXE3 mutations represent an important cause of nonsyndromic autosomal recessive bilateral microphthalmia.

  20. NEW BEST1 MUTATIONS IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY

    PubMed Central

    FUNG, ADRIAN T.; YZER, SUZANNE; GOLDBERG, NAOMI; WANG, HAO; NISSEN, MICHAEL; GIOVANNINI, ALFONSO; MERRIAM, JOANNA E.; BUKANOVA, ELENA N.; CAI, CAROLYN; YANNUZZI, LAWRENCE A.; TSANG, STEPHEN H.; ALLIKMETS, RANDO

    2015-01-01

    Purpose To report the ocular phenotype in patients with autosomal recessive bestrophinopathy and carriers, and to describe novel BEST1 mutations. Methods Patients with clinically suspected and subsequently genetically proven autosomal recessive bestrophinopathy underwent full ophthalmic examination and investigation with fundus autofluorescence imaging, spectral domain optical coherence tomography, electroretinography, and electrooculography. Mutation analysis of the BEST1 gene was performed through direct Sanger sequencing. Results Five affected patients from four families were identified. Mean age was 16 years (range, 6–42 years). All affected patients presented with reduced visual acuity and bilateral, hyperautofluorescent subretinal yellowish deposits within the posterior pole. Spectral domain optical coherence tomography demonstrated submacular fluid and subretinal vitelliform material in all patients. A cystoid maculopathy was seen in all but one patient. In 1 patient, the location of the vitelliform material was seen to change over a follow-up period of 3 years despite relatively stable vision. Visual acuity and fundus changes were unresponsive to topical and systemic carbonic anhydrase inhibitors and systemic steroids. Carriers had normal ocular examinations including normal fundus autofluorescence. Three novel mutations were detected. Conclusion Three novel BEST1 mutations are described, suggesting that many deleterious variants in BEST1 resulting in haploinsufficiency are still unknown. Mutations causing autosomal recessive bestrophinopathy are mostly located outside of the exons that usually harbor vitelliform macular dystrophy–associated dominant mutations. PMID:25545482

  1. 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? PMID:27279331

  2. Wealth Disparities before and after the Great Recession.

    PubMed

    Pfeffer, Fabian T; Danziger, Sheldon; Schoeni, Robert F

    2013-11-01

    The collapse of the labor, housing, and stock markets beginning in 2007 created unprecedented challenges for American families. This study examines disparities in wealth holdings leading up to the Great Recession and during the first years of the recovery. All socioeconomic groups experienced declines in wealth following the recession, with higher wealth families experiencing larger absolute declines. In percentage terms, however, the declines were greater for less-advantaged groups as measured by minority status, education, and pre-recession income and wealth, leading to a substantial rise in wealth inequality in just a few years. Despite large changes in wealth, longitudinal analyses demonstrate little change in mobility in the ranking of particular families in the wealth distribution. Between 2007 and 2011, one fourth of American families lost at least 75 percent of their wealth, and more than half of all families lost at least 25 percent of their wealth. Multivariate longitudinal analyses document that these large relative losses were disproportionally concentrated among lower income, less educated, and minority households.

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

    PubMed

    Teebi, A S

    1994-03-01

    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.

  4. Novel Surveillance of Psychological Distress during the Great Recession

    PubMed Central

    Ayers, John W.; Althouse, Benjamin M.; Allem, Jon-Patrick; Childers, Matthew A.; Zafar, Waleed; Latkin, Carl; Ribisl, Kurt M.; Brownstein, John S.

    2015-01-01

    Background Economic stressors have been retrospectively associated with net population increases in nonspecific psychological distress (PD). However, no sentinels exist to evaluate contemporaneous associations. Aggregate Internet search query surveillance was used to monitor population changes in PD around the United States’ Great Recession. Methods Monthly PD query trends were compared with unemployment, underemployment, homes in delinquency and foreclosure, median home value or sale prices, and S&P 500 trends for 2004–2010. Time series analyses, where economic indicators predicted PD one to seven months into the future, were performed in 2011. Results PD queries surpassed 1,000,000 per month, of which 300,000 may be attributable to the Great Recession. A one percentage point increase in mortgage delinquencies and foreclosures was associated with a 16% (95%CI, 9–24) increase in PD queries one-month, and 11% (95%CI, 3–18) four months later, in reference to a pre-Great Recession mean. Unemployment and underemployment had similar associations half and one-quarter the intensity. “Anxiety disorder,” “what is depression,” “signs of depression,” “depression symptoms,” and “symptoms of depression” were the queries exhibiting the strongest associations with mortgage delinquencies and foreclosures, unemployment or underemployment. Housing prices and S&P 500 trends were not associated with PD queries. Limitations A non-traditional measure of PD was used. It is unclear if actual clinically significant depression or anxiety increased during the Great Recession. Alternative explanations for strong associations between the Great Recession and PD queries, such as media, were explored and rejected. Conclusions Because the economy is constantly changing, this work not only provides a snapshot of recent associations between the economy and PD queries but also a framework and toolkit for real-time surveillance going forward. Health resources, clinician

  5. Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration.

    PubMed

    Radu, Roxana A; Mata, Nathan L; Nusinowitz, Steven; Liu, Xinran; Sieving, Paul A; Travis, Gabriel H

    2003-04-15

    Recessive Stargardt's macular degeneration is an inherited blinding disease of children caused by mutations in the ABCR gene. The primary pathologic defect in Stargardt's disease is accumulation of toxic lipofuscin pigments such as N-retinylidene-N-retinylethanolamine (A2E) in cells of the retinal pigment epithelium. This accumulation appears to be responsible for the photoreceptor death and severe visual loss in Stargardt's patients. Here, we tested a therapeutic strategy to inhibit lipofuscin accumulation in a mouse model of recessive Stargardt's disease. Isotretinoin (Accutane) has been shown to slow the synthesis of 11-cis-retinaldehyde and regeneration of rhodopsin by inhibiting 11-cis-retinol dehydrogenase in the visual cycle. Light activation of rhodopsin results in its release of all-trans-retinaldehyde, which constitutes the first reactant in A2E biosynthesis. Accordingly, we tested the effects of isotretinoin on lipofuscin accumulation in abcr(-/-) knockout mice. Isotretinoin blocked the formation of A2E biochemically and the accumulation of lipofuscin pigments by electron microscopy. We observed no significant visual loss in treated abcr(-/-) mice by electroretinography. Isotretinoin also blocked the slower, age-dependent accumulation of lipofuscin in wild-type mice. These results corroborate the proposed mechanism of A2E biogenesis. Further, they suggest that treatment with isotretinoin may inhibit lipofuscin accumulation and thus delay the onset of visual loss in Stargardt's patients. Finally, the results suggest that isotretinoin may be an effective treatment for other forms of retinal or macular degeneration associated with lipofuscin accumulation.

  6. AAV-mediated gene therapy in mouse models of recessive retinal degeneration

    PubMed Central

    Pang, Ji-jing; Lei, Lei; Dai, Xufeng; Shi, Wei; Liu, Xuan; Dinculescu, Astra; McDowell, J. Hugh

    2013-01-01

    In recent years, more and more mutant genes that cause retinal diseases have been detected. At the same time, many naturally occurring mouse models of retinal degeneration have also been found, which show similar changes to human retinal diseases. These, together with improved viral vector quality allow more and more traditionally incurable inherited retinal disorders to become potential candidates for gene therapy. Currently, the most common vehicle to deliver the therapeutic gene into target retinal cells is the adeno-associated viral vector (AAV). Following delivery to the immuno-priviledged subretinal space, AAV-vectors can efficiently target both retinal pigment epithelium and photoreceptor cells, the origin of most retinal degenerations. This review focuses on the AAV-based gene therapy in mouse models of recessive retinal degenerations, especially those in which delivery of the correct copy of the wild-type gene has led to significant beneficial effects on visual function, as determined by morphological, biochemical, electroretinographic and behavioral analysis. The past studies in animal models and ongoing successful LCA2 clinical trials, predict a bright future for AAV gene replacement treatment for inherited recessive retinal diseases. PMID:22300136

  7. Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel

    SciTech Connect

    Scott, D.A.; Sheffield, V.C.; Stone, E.M.

    1995-10-01

    Nonsyndromic deafness accounts for {approximately}70% of all genetically determined deafness. Several types of nonsyndromic deafness, with a variety of inheritance patterns, have been genetically linked, including dominant, recessive and X-linked forms. Two of these forms - DFNA3, a dominant form causing moderate to severe hearing loss, predominantly in the high frequencies, and DFNB1, a recessive form causing profound, prelingual, neurosensory deafness affecting all frequencies - have been linked to the same pericentromeric region of chromosome 13. This finding is equally compatible with (1) the existence two closely linked deafness genes, (2) different mutations within a single deafness gene, and (3) a single mutation in a single gene that behaves differently in different genetic backgrounds. 12 refs., 2 figs., 1 tab.

  8. Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.

    PubMed

    Yüceyar, Nur; Ayhan, Özgecan; Karasoy, Hatice; Tolun, Aslıhan

    2015-04-01

    Myosin storage myopathy (MSM) is a protein aggregate myopathy caused by the accumulation of myosin in muscle fibres and results from MYH7 mutation. Although MYH7 mutation is also an established cause of variable cardiomyopathy with or without skeletal myopathy, cardiomyopathy with MSM is a rare combination. Here, we update the clinical findings in the two brothers that we previously reported as having recessively inherited MSM characterized by scapuloperoneal distribution of weakness and typical hyaline-like bodies in type 1 muscle fibres. One of the patients, weak from childhood but not severely symptomatic until 28 years of age, had an unusual combination of MSM, severe dilated cardiomyopathy, and respiratory impairment at the age of 44 years. We identified homozygous missense mutation c.5458C>T (p.R1820W) in exon 37 in these patients as the second recessive MYH7 mutation reported to date.

  9. Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

    PubMed

    Chen, Zhao; Wang, Jun-Ling; Tang, Bei-Sha; Sun, Zhan-Fang; Shi, Yu-Ting; Shen, Lu; Lei, Li-Fang; Wei, Xiao-Ming; Xiao, Jing-Jing; Hu, Zheng-Mao; Pan, Qian; Xia, Kun; Zhang, Qing-Yan; Dai, Mei-Zhi; Liu, Yu; Ashizawa, Tetsuo; Jiang, Hong

    2013-10-01

    Next-generation sequencing was used to investigate 9 rare Chinese pedigrees with rare autosomal recessive neurologic Mendelian disorders. Five probands with ataxia-telangectasia and 1 proband with chorea-acanthocytosis were analyzed by targeted gene sequencing. Whole-exome sequencing was used to investigate 3 affected individuals with Joubert syndrome, nemaline myopathy, or spastic ataxia Charlevoix-Saguenay type. A list of known and novel candidate variants was identified for each causative gene. All variants were genetically verified by Sanger sequencing or quantitative polymerase chain reaction with the strategy of disease segregation in related pedigrees and healthy controls. The advantages of using next-generation sequencing to diagnose rare autosomal recessive neurologic Mendelian disorders characterized by genetic and phenotypic heterogeneity are demonstrated. A genetic diagnostic strategy combining the use of targeted gene sequencing and whole-exome sequencing with the aid of next-generation sequencing platforms has shown great promise for improving the diagnosis of neurologic Mendelian disorders. PMID:23726790

  10. Aerodynamic Analysis of Simulated Heat Shield Recession for the Orion Command Module

    NASA Technical Reports Server (NTRS)

    Bibb, Karen L.; Alter, Stephen J.; Mcdaniel, Ryan D.

    2008-01-01

    The aerodynamic effects of the recession of the ablative thermal protection system for the Orion Command Module of the Crew Exploration Vehicle are important for the vehicle guidance. At the present time, the aerodynamic effects of recession being handled within the Orion aerodynamic database indirectly with an additional safety factor placed on the uncertainty bounds. This study is an initial attempt to quantify the effects for a particular set of recessed geometry shapes, in order to provide more rigorous analysis for managing recession effects within the aerodynamic database. The aerodynamic forces and moments for the baseline and recessed geometries were computed at several trajectory points using multiple CFD codes, both viscous and inviscid. The resulting aerodynamics for the baseline and recessed geometries were compared. The forces (lift, drag) show negligible differences between baseline and recessed geometries. Generally, the moments show a difference between baseline and recessed geometries that correlates with the maximum amount of recession of the geometry. The difference between the pitching moments for the baseline and recessed geometries increases as Mach number decreases (and the recession is greater), and reach a value of -0.0026 for the lowest Mach number. The change in trim angle of attack increases from approx. 0.5deg at M = 28.7 to approx. 1.3deg at M = 6, and is consistent with a previous analysis with a lower fidelity engineering tool. This correlation of the present results with the engineering tool results supports the continued use of the engineering tool for future work. The present analysis suggests there does not need to be an uncertainty due to recession in the Orion aerodynamic database for the force quantities. The magnitude of the change in pitching moment due to recession is large enough to warrant inclusion in the aerodynamic database. An increment in the uncertainty for pitching moment could be calculated from these results and

  11. Mars: South Polar Spring Recession as observed by CRISM

    NASA Astrophysics Data System (ADS)

    Brown, A.; Roush, T. L.; Wiseman, S.; McGuire, P.; Wolff, M.; Smith, M.

    2007-12-01

    We are creating a seasonal mosaic of CRISM multispectral data for each MSP (multispectral) image obtained in the south polar region (all regions poleward of 55 deg S) since the start of the MRO primary mission. This effort compliments high resolution targeted observations of the South Polar Cryptic Region (Titus et al., 2007) and OMEGA observations of the south polar cap during spring recession (Langevin et al., 2007). Langevin et al. presented similar maps at 1-10km/pixel - CRISM multispectral observations used here have a nominal resolution of 200m (Seelos, 2007). A similar CRISM multispectral mosaic has been constructed for the north polar region by Seelos et al. (Seelos et al., 2007). Science objectives of this investigation include: 1. High resolution (200m/pixel) multispectral observations of CO2 and H2O seasonal distribution, 2. Observing the point where Cap Recession Observations indicate CO2 has Ultimately Sublimated (CROCUS) line (Kieffer et al., 2000) as a function of solar longitude (ls), 3. Observations of changes in CO2 grain size linked to seasonal brightening of the polar high latitude areas (Langevin et al., 2007), and 200m/pixel observations of dust cover linked to cold jets in the Cyptic Region (Kieffer et al., 2000; Langevin et al., 2007), 4. Observations of small water ice patches in late southern spring (Langevin et al., 2007), 5. Development of climate-based atmospheric correction for use with multispectral data based on TES climatology and DISORT. We will report on the progress of our investigation and present high resolution multispectral mosaics of the south polar cap during spring recession and compare them to data from previous years. References Kieffer, H., et al., 2000. Mars south polar spring and summer behavior observed by TES: Seasonal cap evolution controlled by frost grain size. JGR 105, 9653-9700. Langevin, Y., et al., 2007. Observations of the south seasonal cap of Mars during recession in 2004-2006 by the OMEGA visible

  12. 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

  13. Molecular characterization of S locus genes, SLG and SRK, in a pollen-recessive self-incompatibility haplotype of Brassica rapa L.

    PubMed

    Hatakeyama, K; Takasaki, T; Watanabe, M; Hinata, K

    1998-07-01

    In Brassica species that exhibit self-incompatibility, two genes, SLG and SRK, at the S locus are involved in the recognition reaction with self and non-self pollen. From a pollen-recessive S29 haplotype of Brassica rapa, both cDNA and genomic DNA clones for these two genes were isolated and characterized. The nucleotide sequence for the S domain of SRK29 showed a high degree of similarity with that of SLG29, and they belong to Class II type. RNA gel blot analysis showed that the transcript of SLG29 consisted of the first and second exons, and no other transcript containing any part of the intron sequence was detected. Because no transmembrane domain was encoded by the second exon of SLG29, SLG29 was designated a secreted type glycoprotein. SLGs of two other pollen-recessive haplotypes, S40 and S44, of B. rapa also had a similar structure to that of SLG29. Previously, SLG2 from a pollen-recessive haplotype, S2, of Brassica oleracea was found to produce two different transcripts, one for the secreted type glycoprotein and the other for a putative membrane-anchored form of SLG. Therefore, the nature of these SLGs from pollen-recessive haplotypes of B. rapa is different from that of SLG2 of B. oleracea.

  14. Driving through the Great Recession: Why does motor vehicle fatality decrease when the economy slows down?

    PubMed

    He, Monica M

    2016-04-01

    The relationship between short-term macroeconomic growth and temporary mortality increases remains strongest for motor vehicle (MV) crashes. In this paper, I investigate the mechanisms that explain falling MV fatality rates during the recent Great Recession. Using U.S. state-level panel data from 2003 to 2013, I first estimate the relationship between unemployment and MV fatality rate and then decompose it into risk and exposure factors for different types of MV crashes. Results reveal a significant 2.9 percent decrease in MV fatality rate for each percentage point increase in unemployment rate. This relationship is almost entirely explained by changes in the risk of driving rather than exposure to the amount of driving and is particularly robust for crashes involving large commercial trucks, multiple vehicles, and speeding cars. These findings provide evidence suggesting traffic patterns directly related to economic activity lead to higher risk of MV fatality rates when the economy improves.

  15. Epidermolysis bullosa nevus in a patient with recessive dystrophic epidermolysis bullosa: a case report.

    PubMed

    Fening, Katherine; Theos, Amy; Andea, Aleodor; Vincent, Bethaney; Busam, Klaus; McKay, Kristopher

    2014-12-01

    We present a case of a 6-year-old girl with recessive dystrophic epidermolysis bullosa (EB) who presented with a large pigmented lesion clinically concerning for melanoma. After histological examination and fluorescent in situ hybridization analysis, diagnosis of EB nevus was performed. EB nevi are benign melanocytic neoplasms with histological findings similar to recurrent nevi occurring in all types of EB. They often mimic melanoma clinically, dermatoscopically, and histopathologically. The ability to recognize an EB nevus is essential for appropriate management of the patient. Unnecessary surgical excision in patients with already high-risk EB should be avoided. Close monitoring of these lesions is recommended because no cases of transformation to melanoma have been described.

  16. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

    PubMed

    Weedon, Michael N; Cebola, Inês; Patch, Ann-Marie; Flanagan, Sarah E; De Franco, Elisa; Caswell, Richard; Rodríguez-Seguí, Santiago A; Shaw-Smith, Charles; Cho, Candy H-H; Lango Allen, Hana; Houghton, Jayne A L; Roth, Christian L; Chen, Rongrong; Hussain, Khalid; Marsh, Phil; Vallier, Ludovic; Murray, Anna; Ellard, Sian; Ferrer, Jorge; Hattersley, Andrew T

    2014-01-01

    The contribution of cis-regulatory mutations to human disease remains poorly understood. Whole-genome sequencing can identify all noncoding variants, yet the discrimination of causal regulatory mutations represents a formidable challenge. We used epigenomic annotation in human embryonic stem cell (hESC)-derived pancreatic progenitor cells to guide the interpretation of whole-genome sequences from individuals with isolated pancreatic agenesis. This analysis uncovered six different recessive mutations in a previously uncharacterized ~400-bp sequence located 25 kb downstream of PTF1A (encoding pancreas-specific transcription factor 1a) in ten families with pancreatic agenesis. We show that this region acts as a developmental enhancer of PTF1A and that the mutations abolish enhancer activity. These mutations are the most common cause of isolated pancreatic agenesis. Integrating genome sequencing and epigenomic annotation in a disease-relevant cell type can thus uncover new noncoding elements underlying human development and disease. PMID:24212882

  17. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

    PubMed Central

    Flanagan, Sarah E.; De Franco, Elisa; Caswell, Richard; Rodríguez-Seguí, Santiago A.; Shaw-Smith, Charles; Cho, Candy H-H.; Allen, Hana Lango; Houghton, Jayne AL.; Roth, Christian L.; Chen, Rongrong; Hussain, Khalid; Marsh, Phil; Vallier, Ludovic; Murray, Anna

    2014-01-01

    The contribution of cis-regulatory mutations to human disease remains poorly understood. Whole genome sequencing can identify all non-coding variants, yet discrimination of causal regulatory mutations represents a formidable challenge. We used epigenomic annotation in hESC-derived embryonic pancreatic progenitor cells to guide the interpretation of whole genome sequences from patients with isolated pancreatic agenesis. This uncovered six different recessive mutations in a previously uncharacterized ~400bp sequence located 25kb downstream of PTF1A (pancreas-specific transcription factor 1a) in ten families with pancreatic agenesis. We show that this region acts as a developmental enhancer of PTF1A and that the mutations abolish enhancer activity. These mutations are the most common cause of isolated pancreatic agenesis. Integrating genome sequencing and epigenomic annotation in a disease-relevant cell type can uncover novel non-coding elements underlying human development and disease. PMID:24212882

  18. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

    PubMed

    Suzumori, Nobuhiro; Kaname, Tadashi; Muramatsu, Yukako; Yanagi, Kumiko; Kumagai, Kyoko; Mizuno, Seiji; Naritomi, Kenji; Saitoh, Shinji; Sugiura-Ogasawara, Mayumi

    2013-11-01

    Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c.254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning.

  19. 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." PMID:24749229

  20. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

    PubMed

    Suzumori, Nobuhiro; Kaname, Tadashi; Muramatsu, Yukako; Yanagi, Kumiko; Kumagai, Kyoko; Mizuno, Seiji; Naritomi, Kenji; Saitoh, Shinji; Sugiura-Ogasawara, Mayumi

    2013-11-01

    Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c.254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning. PMID:23815237

  1. Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

    PubMed

    Lise, Stefano; Clarkson, Yvonne; Perkins, Emma; Kwasniewska, Alexandra; Sadighi Akha, Elham; Schnekenberg, Ricardo Parolin; 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.

  2. Effects of Antecedent Storage on Inter-Seasonal Recession Curve Variability

    NASA Astrophysics Data System (ADS)

    Bart, R. R.; Hope, A. S.

    2012-12-01

    Understanding the relation between streamflow recession rates and antecedent storage conditions is important for managing riparian ecosystems and forecasting low flows. This understanding is of particular interest in California watersheds where the climate regime is characterized by a large inter-seasonal contrast in precipitation that is out of phase with potential ET, leading to large differences in storage conditions between the beginning and the end of the winter wet season. The objective of this study was to investigate how streamflow recession rates in four watersheds located in the Santa Lucia Mountains of central California vary with antecedent streamflow, which was treated as an indicator of watershed storage conditions. Streamflow recession curves were grouped by antecedent streamflow and compared via examination of their recession slope curve on a log(-dQ/dt)-log(Q) plot. The results indicate that streamflow recession rates decrease with increasing antecedent streamflow. The relation between antecedent streamflow and recession rate follows a negative power law function, with a rapid decrease in recession rate following initial streamflow-producing events. This decrease is likely associated with a shift in the dominant source of recession flows from fast to slow stores as storage levels build up in slow parts of the watershed throughout the wet season. This paper concludes that evaluation of the effect inter-seasonal differences in storage conditions, not just evapotranspiration, is necessary for properly characterizing streamflow recession curves.

  3. Association between AgI-CA alleles and severity of autosomal recessive proximal spina lmuscular atrophy

    SciTech Connect

    DiDonato, C.J.; Carpten, J.D.; Fuerst, P.; Ingraham, S.E.; Mendell, J.R.; Burghes, A.H.M.; Morgan, K.; Prescott, G.; Simard, L.R.; McPherson, J.D.

    1994-12-01

    The gene for autosomal recessive proximal spinal muscular atrophy (SMA) has been mapped to an 850-kb interval on 5q11.2-q13.3, between the centromeric D5S823 and telomeric D5S557 markers. We report a new complex marker, Ag1-CA, that lies in this interval, whose primers produce one, two, or rarely three amplification-fragment-length variants (AFLVs) per allele. Class I chromosomes are those which amplify a single AFLV allele, and class II chromosomes are those which amplify an allele with two or three AFLVs. Ag1-CA shows highly significant allelic association with type I SMA in both the French Canadian (Hopital Sainte-Justine (HSJ)) and American (Ohio State University (OSU)) populations (P < .0001). Significant association between the Ag1-CA genotype and disease severity was also observed. Type I patients were predominantly homozygous for class I chromosomes (P = .0003 OSU; P = 0.0012 HSJ), whereas the majority of type II patients were heterozygous for class I and II chromosomes (P = .0014 OSU; P = .001 HSJ). There was no significant difference in Ag1-CA genotype frequencies between type III patients (P = .5 OSU; P = .25 HSJ) and the paired normal chromosomes from both carrier parents. Our results indicate that Ag1-CA is the most closely linked marker to SMA and defines the critical candidate-gene region. Finally, we have proposed a model that should be taken into consideration when screening candidates SMA genes.

  4. Interpretation of karst spring recession curves by the series reservoir model

    NASA Astrophysics Data System (ADS)

    chang, Y.; Wu, J.

    2013-12-01

    The analysis of karst spring recession is a commonly used approach for understanding the aquifer structure or acquiring hydrodynamic parameters. An approach frequently applied for recession analysis is based on the several parallel, typically two or three, linear reservoirs each of which represents different part with different hydraulic conductivities, such as the conduit system and the fissure system. However, this parallel reservoir structure cannot accord with the relationship between the conduit system and fissure system, which is actually in series rather than parallel. We, therefore, examine the recession curve of two linear reservoirs in series (the conduit reservoir and fissure reservoir), representing the conduit and fissure system respectively, and make comparisons with two corresponding parallel linear reservoirs. Some interesting results are presented. If the storages of two series systems are close and the recession coefficient of the conduit reservoir is larger than the fissure reservoir, two overlapping exponential recession processes still exist. And yet, the recession coefficient of each exponential process is different from that of each single reservoir. One of recession coefficient is larger than the conduit reservoir owing to extra water participation from the fissure reservoir except the drainage of conduit reservoir, while the other recession coefficient is smaller than the fissure reservoir because the water flowing out from the fissure reservoir is regulated by the conduit reservoir again. When the recession coefficient of conduit reservoir is close or smaller than the fissure system, the recession curve is expressed only by an exponential function and the recession coefficient is between the conduit and fissure system. Commonly, the storage of the conduit system is much smaller than the fissure system and the conduit flow is turbulent. When ignoring the storage of the conduit system, the conduit reservoir can be substituted by a pipe, in

  5. Watershed model calibration to the base flow recession curve with and without evapotranspiration effects

    NASA Astrophysics Data System (ADS)

    Jepsen, S. M.; Harmon, T. C.; Shi, Y.

    2016-04-01

    Calibration of watershed models to the shape of the base flow recession curve is a way to capture the important relationship between groundwater discharge and subsurface water storage in a catchment. In some montane Mediterranean regions, such as the midelevation Providence Creek catchment in the southern Sierra Nevada of California (USA), nearly all base flow recession occurs after snowmelt, and during this time evapotranspiration (ET) usually exceeds base flow. We assess the accuracy to which watershed models can be calibrated to ET-dominated base flow recession in Providence Creek, both in terms of fitting a discharge time-series and realistically capturing the observed discharge-storage relationship for the catchment. Model parameters estimated from calibrations to ET-dominated recession are compared to parameters estimated from reference calibrations to base flow recession with ET-effects removed ("potential recession"). We employ the Penn State Integrated Hydrologic Model (PIHM) for simulations of base flow and ET, and methods that are otherwise general in nature. In models calibrated to ET-dominated recession, simulation errors in ET and the targeted relationship for recession (-dQ/dt versus Q) contribute substantially (up to 57% and 46%, respectively) to overestimates in the discharge-storage differential, defined as d(lnQ)/dS, relative to that derived from water flux observations. These errors result in overestimates of deep-subsurface hydraulic conductivity in models calibrated to ET-dominated recession, by up to an order of magnitude, relative to reference calibrations to potential recession. These results illustrate a potential opportunity for improving model representation of discharge-storage dynamics by calibrating to the shape of base flow recession after removing the complicating effects of ET.

  6. Molecular and cellular basis of autosomal recessive primary microcephaly.

    PubMed

    Barbelanne, Marine; Tsang, William Y

    2014-01-01

    Autosomal recessive primary microcephaly (MCPH) is a rare hereditary neurodevelopmental disorder characterized by a marked reduction in brain size and intellectual disability. MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome, Meier-Gorlin syndrome, and microcephalic osteodysplastic dwarfism. In this review, we discuss the key proteins mutated in MCPH. To date, MCPH-causing mutations have been identified in twelve different genes, many of which encode proteins that are involved in cell cycle regulation or are present at the centrosome, an organelle crucial for mitotic spindle assembly and cell division. We highlight recent findings on MCPH proteins with regard to their role in cell cycle progression, centrosome function, and early brain development. PMID:25548773

  7. Recession and Expected Retirement Age: Another Look at the Evidence

    PubMed Central

    Szinovacz, Maximiliane E.

    2014-01-01

    Purpose: This article expands on earlier analyses that assessed whether the recent recession influenced retirement expectations. Design and Methods: Acknowledging that planning for retirement is a complex process influenced by personal preferences, resources, economic factors, institutional policies, and social norms, we test more comprehensive models than those used in previous studies, using data from the 2006 and 2008 waves (Waves 8 and 9) of the Health and Retirement Study. Results: Our results confirm that economic changes impinge on retirement expectations, but they also show stronger influences of other factors such as debts and the work environment. Implications: As the baby boom cohorts approach retirement age, it will be important to better understand how workers consider macro factors such as the state of the economy and firm-level factors and personal finances when planning for retirement. PMID:23448961

  8. 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.

  9. Private Financial Transfers, Family Income, and the Great Recession

    PubMed Central

    Gottlieb, Aaron; Pilkauskas, Natasha; Garfinkel, Irwin

    2014-01-01

    Using longitudinal data from the Fragile Families and Child Wellbeing Study (N = 4,701; 1998–2010), the authors studied whether the unemployment rate was associated with private financial transfers (PFTs) among urban families with young children and whether family income moderated these associations. They found that an increase in the unemployment rate was associated with greater PFT receipt and that family income moderated the association. Poor and near-poor mothers experienced increases in PFT receipt when unemployment rates were high, whereas mothers with incomes between 2 and 3 times the poverty threshold experienced decreases. Simulations estimating the impact of the Great Recession suggest that moving from 5% to 10% unemployment is associated with a 9-percentage-point increase in the predicted probability of receiving a PFT for the sample as a whole, with greater increases in predicted probabilities among poor and near poor mothers. PMID:25505802

  10. Performance analysis of SOI MOSFET with rectangular recessed channel

    NASA Astrophysics Data System (ADS)

    Singh, M.; Mishra, S.; Mohanty, S. S.; Mishra, G. P.

    2016-03-01

    In this paper a two dimensional (2D) rectangular recessed channel-silicon on insulator metal oxide semiconductor field effect transistor (RRC-SOI MOSFET), using the concept of groove between source and drain regions, which is one of the channel engineering technique to suppress the short channel effect (SCE). This suppression is mainly due to corner potential barrier of the groove and the simulation is carried out by using ATLAS 2D device simulator. To have further improvement of SCE in RRC-SOI MOSFET, three more devices are designed by using dual material gate (DMG) and gate dielectric technique, which results in formation of devices i.e. DMRRC-SOI,MLSMRRC-SOI, MLDMRRC-SOI MOSFET. The effect of different structures of RRC-SOI on AC and RF parameters are investigated and the importance of these devices over RRC MOSFET regarding short channel effect is analyzed.

  11. 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

  12. 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

  13. 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.

  14. 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

  15. 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.

  16. CHARACTERIZING THE SPECTRUM OF AUTOSOMAL RECESSIVE HEREDITARY HEARING LOSS IN IRAN

    PubMed Central

    Sloan-Heggen, Christina M; Babanejad, Mojgan; Beheshtian, Maryam; Simpson, Allen C; Booth, Kevin T; Ardalani, Fariba; Frees, Kathy L; Mohseni, Marzieh; Mozafari, Reza; Mehrjoo, Zohreh; Jamali, Leila; Vaziri, Saeideh; Akhtarkhavari, Tara; Bazazzadegan, Niloofar; Nikzat, Nooshin; Arzhangi, Sanaz; Sabbagh, Farahnaz; Otukesh, Hasan; Seifati, Seyed Morteza; Khodaei, Hossein; Taghdiri, Maryam; Meyer, Nicole C; Daneshi, Ahmad; Farhadi, Mohammad; Kahrizi, Kimia; Smith, Richard JH; Azaiez, Hela; Najmabadi, Hossein

    2016-01-01

    Background Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary hearing loss (HHL) is not uncommon, it is genetically heterogeneous, with over 85 genes causally implicated in non-syndromic hearing loss (NSHL). This heterogeneity makes many gene-specific types of NSHL exceedingly rare. We sought to define the spectrum of autosomal recessive HHL in Iran by investigating both common and rarely diagnosed deafness-causing genes. Design Using a custom targeted genomic enrichment (TGE) panel we simultaneously interrogating all known genetic causes of NSHL in a cohort of 302 GJB2-negative Iranian families. Results We established a genetic diagnosis for 67% of probands and their families, with over half of all diagnoses attributable to variants in five genes: SLC26A4, MYO15A, MYO7A, CDH23, and PCDH15. As a reflection of the power of consanguinity mapping, 26 genes were identified as causative for NSHL in the Iranian population for the first time. In total, 179 deafness-causing variants were identified in 40 genes in 201 probands, including 110 novel single nucleotide or small insertion-deletion variants and 3 novel copy number variations. Several variants represent founder mutations. Conclusion This study attests to the power of TGE and massively parallel sequencing (TGE+MPS) as a diagnostic tool for the evaluation of hearing loss in Iran, and expands on our understanding of the genetics of HHL in this country. Families negative for variants in the genes represented on this panel represent an excellent cohort for novel gene discovery. PMID:26445815

  17. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

    PubMed

    Srour, Myriam; Chitayat, David; Caron, Véronique; Chassaing, Nicolas; Bitoun, Pierre; Patry, Lysanne; Cordier, Marie-Pierre; Capo-Chichi, José-Mario; Francannet, Christine; Calvas, Patrick; Ragge, Nicola; Dobrzeniecka, Sylvia; Hamdan, Fadi F; Rouleau, Guy A; Tremblay, André; Michaud, Jacques L

    2013-10-01

    Anophthalmia and/or microphthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac defects are the main features of PDAC syndrome. Recessive mutations in STRA6, encoding a membrane receptor for the retinol-binding protein, have been identified in some cases with PDAC syndrome, although many cases have remained unexplained. Using whole-exome sequencing, we found that two PDAC-syndrome-affected siblings, but not their unaffected sibling, were compound heterozygous for nonsense (c.355C>T [p.Arg119(∗)]) and frameshift (c.1201_1202insCT [p.Ile403Serfs(∗)15]) mutations in retinoic acid receptor beta (RARB). Transfection studies showed that p.Arg119(∗) and p.Ile403Serfs(∗)15 altered RARB had no transcriptional activity in response to ligands, confirming that the mutations induced a loss of function. We then sequenced RARB in 15 subjects with anophthalmia and/or microphthalmia and at least one other feature of PDAC syndrome. Surprisingly, three unrelated subjects with microphthalmia and diaphragmatic hernia showed de novo missense mutations affecting the same codon; two of the subjects had the c.1159C>T (Arg387Cys) mutation, whereas the other one carried the c.1159C>A (p.Arg387Ser) mutation. We found that compared to the wild-type receptor, p.Arg387Ser and p.Arg387Cys altered RARB induced a 2- to 3-fold increase in transcriptional activity in response to retinoic acid ligands, suggesting a gain-of-function mechanism. Our study thus suggests that both recessive and dominant mutations in RARB cause anophthalmia and/or microphthalmia and diaphragmatic hernia, providing further evidence of the crucial role of the retinoic acid pathway during eye development and organogenesis.

  18. A Novel Recessive NEFL Mutation Causes a Severe, Early-Onset Axonal Neuropathy

    PubMed Central

    Yum, Sabrina W.; Zhang, Junxian; Mo, Katie; Li, Jian; Scherer, Steven S.

    2015-01-01

    Objective To report the first cases of homozygous recessive mutations in NEFL, the gene that encodes the light subunit of neurofilaments (NFL). Methods Clinical and electrophysiologic data of all family members were evaluated, and a sural nerve biopsy from one affected child was examined by immunohistochemistry and electron microscopy. The ability of the mutant protein to form filaments was characterized in an established cell culture system. Results Four of five siblings developed a severe, progressive neuropathy beginning in early childhood. Serial nerve conduction studies showed progressively reduced amplitudes with age, and pronounced slowing at all ages. Visual evoked responses were slowed in three children, indicating that CNS axons were subclinically involved. All four affected children were homozygous for a nonsense mutation at glutamate 210 (E210X) in the NEFL gene; both parents were heterozygous carriers. A sural nerve biopsy from an affected patient at age 16 revealed markedly reduced numbers of myelinated axons; the remaining myelinated axons were small and lacked intermediate filaments. The E210X mutant protein did not form an intermediate filament network, and did not interfere with the filament formation by wild type human NFL in SW-13 vim- cells. Interpretation This is the first demonstration of a recessive NEFL mutation, which appears to cause a simple loss-of-function, resulting in a severe, early-onset axonal neuropathy with unique features. These results confirm that neurofilaments are the main determinant of axonal caliber and conduction velocity, and demonstrate for the first time that neurofilaments are required for the maintenance of myelinated PNS axons. PMID:20039262

  19. Isotretinoin treatment inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration.

    PubMed

    Radu, Roxana A; Mata, Nathan L; Nusinowitz, Steven; Liu, Xinran; Travis, Gabriel H

    2004-01-01

    Recessive Stargardt's macular degeneration is an inherited blinding disease of children caused by mutations in the ABCR gene. The primary pathologic defect in Stargardt's discase is accumulation of toxic lipofuscin pigments such as N-retinylidene-N-retinylethanolamine (A2E) in cells of the retinal pigment epithelium (RPE). This accumulation appears to be responsible for the photoreceptor death and severe visual loss in Stargardt's patients. Here, we tested a novel therapeutic strategy to inhibit lipofuscin accumulation in a mouse model of recessive Stargardt's disease. Isotretinoin (Accutane) has been shown to slow the synthesis of 11-cis-retinaldehyde (11cRAL) and regeneration of rhodopsin by inhibiting 11-cis-retinol dehydrogenase (11cRDH) in the visual cycle. Light activation of rhodopsin results in its release of all-trans-retinaldehyde (atRAL), which constitutes the first reactant in A2E biosynthesis. Accordingly, we tested the effects of isotretinoin on lipofuscin accumulation in abcr-/- knockout mice. Isotretinoin blocked the formation of A2E biochemically and the accumulation of lipofuscin pigments by electron microscopy. We observed no significant visual loss in treated abcr-/- mice by electroretinography. Isotretinoin also blocked the slower, age-dependent accumulation of lipofuscin in wild-type mice. These results corroborate the proposed mechanism of A2E biogenesis. Further, they suggest that treatment with isotretinoin may inhibit lipofuscin accumulation and thus delay the onset of visual loss in Stargardt's patients. Finally, the results suggest that isotretinoin may be an effective treatment for other forms of retinal or macular degeneration associated with lipofuscin accumulation.

  20. 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.

  1. 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.…

  2. 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)

  3. 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…

  4. 41 CFR 302-8.300 - Under what authority am I provided storage during school recess?

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 41 Public Contracts and Property Management 4 2011-07-01 2011-07-01 false Under what authority am I provided storage during school recess? 302-8.300 Section 302-8.300 Public Contracts and Property...-ALLOWANCES FOR EXTENDED STORAGE OF HOUSEHOLD GOODS (HHG) Storage During School Recess for Department...

  5. 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…

  6. 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,…

  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. 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…

  9. 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…

  10. 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…

  11. 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.…

  12. 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…

  13. 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…

  14. 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…

  15. 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…

  16. 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…

  17. 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…

  18. The Ecology of Student Retention: Undergraduate Students and the Great Recession

    ERIC Educational Resources Information Center

    Mendoza, Pilar; Malcolm, Zaria; Parish, Nancy

    2015-01-01

    This study investigated qualitatively how undergraduate students experienced the Great Recession at a flagship university in the South Eastern of United States and how this experience relates to their retention. Results indicate that the Great Recession has significantly impacted students' engagement and commitments. We argue that student…

  19. 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…

  20. 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 middle…

  1. 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

  2. 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

  3. “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

  4. Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases.

    PubMed

    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

  5. Can we differentiate alpine groundwater storages regarding volume and residence time by recession observations, ion composition and tracer balance?

    NASA Astrophysics Data System (ADS)

    Floriancic, Marius; Smoorenburg, Maarten; Margreth, Michael; Naef, Felix

    2015-04-01

    Research on how catchments store and release water is essential to improve flood and low flow prediction in (un)gauged watersheds. Despite their importance for catchment scale assessments on runoff generation, knowledge on storage properties and residence times is still limited. Here we present some approaches to separate different storage types regarding their residence time and a quantification of the volumes of these storages based on a dataset of winter recession observation in the alpine Poschiavino headwater area. This spatially highly resolved dataset of discharge, electric conductivity and ion composition from a watershed with strongly contrasting storage properties, allowed separating three main contributing sources: continuous discharge from bedrock cracks, strongly delayed discharge from thick sediment deposits and fractured rock and rapid discharge from shallow layers. The gradients of the recession curves, the variation of electric conductivity in the river network and calculated tracer balance were used to separate contribution from different sources. Additionally contribution from sedimentary rocks and crystalline layers could be separated based on the variation of ion composition in the water samples. We derived recession curves for a period of four months for the separated storages in different parts of the catchment allowing estimation of the contributed volumes in this time period. Finally the spatial distribution of the storage types could be mapped throughout the catchment based on information like geo(morpho)logical maps, aerial photographs, DEM and field observations. We found significant variation comparing the discharged volume and specific discharge throughout the winter season in the different subcatchments. Constant discharge from bedrock cracks is similar in all catchment parts. Storage in the shallow deposits depleted quickly. High winter discharge could be attributed to thick quaternary deposits contributing during the whole

  6. Historical time-recessive recombinant nucleotidal gene transfer

    NASA Astrophysics Data System (ADS)

    Norton, Michael A.

    2013-10-01

    Whether conscious of it or not, physicist Tim Berners-Lee basically applied principle of a nuclear chain reaction to electron transport, a remarkable outcome being the world wide web. On a less dense exponential than the nucleus, but still by out of control design (1999), the flow of electrons with high symmetry (hypertext) brought about astonishing new insights to the field. No one in the author's sphere of influence, including the author, ever learned or taught that such chain reactions have a time-recessive trajectory, such that key significant moments in the new science had impact not only the world at present, but on scale overlapping with ancestors. Dr. Chuck Darwin learned man indeed did arise in Africa (brown toastmasters); author suggests his creed ``survival of the fittest'' in post-20th century hindsight, for man initialized nuclear energy in Eurasia (white toastmasters), and nearly brought the world to collapse by dropping nuclear weapons on humans in Asia (yellow toastmasters), be best updated ``survival of the most communicative.'' If true, this informs that the measure of the appended science's power is as equally as important as the measure of its speed, ergo, there really is no energy crisis.

  7. Effects of the great recession on drugs consumption in Spain.

    PubMed

    Martin Bassols, Nicolau; Vall Castelló, Judit

    2016-09-01

    This paper presents evidence on how the consumption of legal and illegal drugs has changed in response to the Great Recession in Spain. We use a large scale survey from 2005 to 2011 to analyze the association between changes in local economic conditions and drug consumption among individuals aged 15-64. Although Spain was one of the countries hardest hit by the economic downturn, the crisis was unevenly felt across the country. Therefore, we exploit this difference in unemployment rates across provinces to identify the effects of business cycle variations on the consumption of legal and illegal drugs. To the best of our knowledge, this is the first study to find a relation between the deterioration of local economic conditions and a strong increase in the consumption of marihuana and cocaine. We also report a decrease in alcohol consumption but a significant escalation in abusive smoking behavior (smoking every day). We believe that these findings are important not only for the potential negative implications at the individual level but also for the costs to society as a whole.

  8. The Great Recession in Portugal: impact on hospital care use.

    PubMed

    Perelman, Julian; Felix, Sónia; Santana, Rui

    2015-03-01

    The Great Recession started in Portugal in 2009, coupled with severe austerity. This study examines its impact on hospital care utilization, interpreted as caused by demand-side effects (related to variations in population income and health) and supply-side effects (related to hospitals' tighter budgets and reduced capacity). The database included all in-patient stays at all Portuguese NHS hospitals over the 2001-2012 period (n=17.7 millions). We analyzed changes in discharge rates, casemix index, and length of stay (LOS), using a before-after methodology. We additionally measured the association of health care indicators to unemployment. A 3.2% higher rate of discharges was observed after 2009. Urgent stays increased by 2.5%, while elective in-patient stays decreased by 1.4% after 2011. The LOS was 2.8% shorter after the crisis onset, essentially driven by the 4.5% decrease among non-elective stays. A one percentage point increase in unemployment rate was associated to a 0.4% increase in total volume, a 2.3% decrease in day cases, and a 0.1% decrease in LOS. The increase in total and urgent cases may reflect delayed out-patient care and health deterioration; the reduced volume of elective stays possibly signal a reduced capacity; finally, the shorter stays may indicate either efficiency-enhancing measures or reduced quality.

  9. Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q

    SciTech Connect

    Russell, L.J.; Compton, J.G.; Bale, S.J.; DiGiovanna, J.J.; Hashem, N.

    1994-12-01

    The authors have mapped the locus for lamellar ichthyosis (LI), an autosomal recessive skin disease characterized by abnormal cornification of the epidermis. Analysis using both inbred and outbred families manifesting severe LI showed complete linkage to several markers within a 9.3-cM region on chromosome 14q11. Affected individuals in inbred families were also found to have striking homozygosity for markers in this region. Linkage-based genetic counseling and prenatal diagnosis is now available for informative at-risk families. Several transcribed genes have been mapped to the chromosome 14 region containing the LI gene. The transglutaminase 1 gene (TGM1), which encodes one of the enzymes responsible for cross-linking epidermal proteins during formation of the stratum corneum, maps to this interval. The TGM1 locus was completely linked to LI (Z = 9.11), suggesting that TGM1 is a good candidate for further investigation of this disorder. The genes for four serine proteases also map to this region but are expressed only in hematopoietic or mast cells, making them less likely candidates.

  10. Many roads lead to primary autosomal recessive microcephaly.

    PubMed

    Kaindl, Angela M; Passemard, Sandrine; Kumar, Pavan; Kraemer, Nadine; Issa, Lina; Zwirner, Angelika; Gerard, Benedicte; Verloes, Alain; Mani, Shyamala; Gressens, Pierre

    2010-03-01

    Autosomal recessive primary microcephaly (MCPH), historically referred to as Microcephalia vera, is a genetically and clinically heterogeneous disease. Patients with MCPH typically exhibit congenital microcephaly as well as mental retardation, but usually no further neurological findings or malformations. Their microcephaly with grossly preserved macroscopic organization of the brain is a consequence of a reduced brain volume, which is evident particularly within the cerebral cortex and thus results to a large part from a reduction of grey matter. Some patients with MCPH further provide evidence of neuronal heterotopias, polymicrogyria or cortical dysplasia suggesting an associated neuronal migration defect. Genetic causes of MCPH subtypes 1-7 include mutations in genes encoding microcephalin, cyclin-dependent kinase 5 regulatory associated protein 2 (CDK5RAP2), abnormal spindle-like, microcephaly associated protein (ASPM), centromeric protein J (CENPJ), and SCL/TAL1-interrupting locus (STIL) as well as linkage to the two loci 19q13.1-13.2 and 15q15-q21. Here, we provide a timely overview of current knowledge on mechanisms leading to microcephaly in humans with MCPH and abnormalities in cell division/cell survival in corresponding animal models. Understanding the pathomechanisms leading to MCPH is of high importance not only for our understanding of physiologic brain development (particularly of cortex formation), but also for that of trends in mammalian evolution with a massive increase in size of the cerebral cortex in primates, of microcephalies of other etiologies including environmentally induced microcephalies, and of cancer formation. PMID:19931588

  11. Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease.

    PubMed

    Gigarel, N; Frydman, N; Burlet, P; Kerbrat, V; Tachdjian, G; Fanchin, R; Antignac, C; Frydman, R; Munnich, A; Steffann, J

    2008-01-01

    Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases, and is caused by mutations in the PKHD1 gene. Due to the poor prognosis, there is a strong demand for prenatal diagnosis. Preimplantation genetic diagnosis (PGD) represents an alternative because it avoids the physical and emotional trauma of a pregnancy termination in the case of an affected fetus. A standardized single-cell diagnostic procedure was developed, based on haplotype analysis, enabling PGD to be offered to couples at risk of transmitting ARPKD. Six linked markers within (D6S1714 and D6S243), or in close proximity to (D6S272, D6S436, KIAA0057, D6S1662) the PKHD1 gene were tested by multiplex nested-polymerase chain reaction (PCR), using a Qiagen multiplex PCR kit. PCR analyses were carried out on 50 single lymphocytes. The amplification rate was excellent (100%), with an allele drop-out (ADO) rate ranging from 0 to 8%. Five PGD cycles were performed and 23 embryos were biopsied and analysed using this test. Transferable embryos were obtained in 4 cycles, resulting in two pregnancies and the birth of a healthy boy. This standardized diagnostic procedure allowed the detection of recombination, contamination, and ADO events, providing high assay accuracy with wide applicability.

  12. Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia

    PubMed Central

    Lencz, Todd; Lambert, Christophe; DeRosse, Pamela; Burdick, Katherine E.; Morgan, T. Vance; Kane, John M.; Kucherlapati, Raju; Malhotra, Anil K.

    2007-01-01

    Evolutionarily significant selective sweeps may result in long stretches of homozygous polymorphisms in individuals from outbred populations. We developed whole-genome homozygosity association (WGHA) methodology to characterize this phenomenon in healthy individuals and to use this genomic feature to identify genetic risk loci for schizophrenia (SCZ). Applying WGHA to 178 SCZ cases and 144 healthy controls genotyped at 500,000 markers, we found that runs of homozygosity (ROHs), ranging in size from 200 kb to 15 mb, were common in unrelated Caucasians. Properties of common ROHs in healthy subjects, including chromosomal location and presence of nonancestral haplotypes, converged with prior reports identifying regions under selective pressure. This interpretation was further supported by analysis of multiethnic HapMap samples genotyped with the same markers. ROHs were significantly more common in SCZ cases, and a set of nine ROHs significantly differentiated cases from controls. Four of these 9 “risk ROHs” contained or neighbored genes associated with SCZ (NOS1AP, ATF2, NSF, and PIK3C3). Several of these risk ROHs were very rare in healthy subjects, suggesting that recessive effects of relatively high penetrance may explain a proportion of the genetic liability for SCZ. Other risk ROHs feature haplotypes that are also common in healthy individuals, possibly indicating a source of balancing selection. PMID:18077426

  13. Demonstration of Recessed Downlight Technologies: Power and Illumination Assessment

    SciTech Connect

    Parker, Steven A.; Beeson, Tracy A.

    2009-11-20

    Solid state lighting (SSL), specifically light-emitting diodes (LED), has been advancing at a rapid pace, and there are presently multiple products available that serve as direct replacements for traditional luminaires. In this demonstration, conventional recessed lights in a conference room were used to compare conventional incandescent A-lamps, incandescent reflector R-lamps, dimming compact fluorescent lamps (CFL), to an LED replacement product. The primary focus during the study was on light delivered to the task plane as provided by the power required by the lighting system. Vertical illuminance, dimming range, and color shift are also important indicators of lighting quality and are discussed in the report. The results clearly showed that LEDs, with dimming-capable drivers, are much more efficient than incandescent and CFLs. Further, LEDs provide much smoother and consistent dimming than dimmable CFLs. On the potential negative side, it is important that the dimming switch be identified as compatible with the LED driver. A wide variety of dimmer switches are capable of dimming LEDs down to 15% of full light output, while select others can be capable of dimming LEDs down to 5%. In addition, LEDs can be intensive light sources, which can result in uncomfortable glare in some applications and to some occupants. Higher ceiling (9-foot or greater) or non-specular reflectors can act to alleviate the potential for glare.

  14. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

    PubMed Central

    Ceyhan-Birsoy, Ozge; Agrawal, Pankaj B.; Hidalgo, Carlos; Schmitz-Abe, Klaus; DeChene, Elizabeth T.; Swanson, Lindsay C.; Soemedi, Rachel; Vasli, Nasim; Iannaccone, Susan T.; Shieh, Perry B.; Shur, Natasha; Dennison, Jane M.; Lawlor, Michael W.; Laporte, Jocelyn; Markianos, Kyriacos; Fairbrother, William G.; Granzier, Henk

    2013-01-01

    Objective: To identify causative genes for centronuclear myopathies (CNM), a heterogeneous group of rare inherited muscle disorders that often present in infancy or early life with weakness and hypotonia, using next-generation sequencing of whole exomes and genomes. Methods: Whole-exome or -genome sequencing was performed in a cohort of 29 unrelated patients with clinicopathologic diagnoses of CNM or related myopathy depleted for cases with mutations of MTM1, DNM2, and BIN1. Immunofluorescence analyses on muscle biopsies, splicing assays, and gel electrophoresis of patient muscle proteins were performed to determine the molecular consequences of mutations of interest. Results: Autosomal recessive compound heterozygous truncating mutations of the titin gene, TTN, were identified in 5 individuals. Biochemical analyses demonstrated increased titin degradation and truncated titin proteins in patient muscles, establishing the impact of the mutations. Conclusions: Our study identifies truncating TTN mutations as a cause of congenital myopathy that is reported as CNM. Unlike the classic CNM genes that are all involved in excitation-contraction coupling at the triad, TTN encodes the giant sarcomeric protein titin, which forms a myofibrillar backbone for the components of the contractile machinery. This study expands the phenotypic spectrum associated with TTN mutations and indicates that TTN mutation analysis should be considered in cases of possible CNM without mutations in the classic CNM genes. PMID:23975875

  15. The Great Recession in Portugal: impact on hospital care use.

    PubMed

    Perelman, Julian; Felix, Sónia; Santana, Rui

    2015-03-01

    The Great Recession started in Portugal in 2009, coupled with severe austerity. This study examines its impact on hospital care utilization, interpreted as caused by demand-side effects (related to variations in population income and health) and supply-side effects (related to hospitals' tighter budgets and reduced capacity). The database included all in-patient stays at all Portuguese NHS hospitals over the 2001-2012 period (n=17.7 millions). We analyzed changes in discharge rates, casemix index, and length of stay (LOS), using a before-after methodology. We additionally measured the association of health care indicators to unemployment. A 3.2% higher rate of discharges was observed after 2009. Urgent stays increased by 2.5%, while elective in-patient stays decreased by 1.4% after 2011. The LOS was 2.8% shorter after the crisis onset, essentially driven by the 4.5% decrease among non-elective stays. A one percentage point increase in unemployment rate was associated to a 0.4% increase in total volume, a 2.3% decrease in day cases, and a 0.1% decrease in LOS. The increase in total and urgent cases may reflect delayed out-patient care and health deterioration; the reduced volume of elective stays possibly signal a reduced capacity; finally, the shorter stays may indicate either efficiency-enhancing measures or reduced quality. PMID:25583679

  16. Effects of the great recession on drugs consumption in Spain.

    PubMed

    Martin Bassols, Nicolau; Vall Castelló, Judit

    2016-09-01

    This paper presents evidence on how the consumption of legal and illegal drugs has changed in response to the Great Recession in Spain. We use a large scale survey from 2005 to 2011 to analyze the association between changes in local economic conditions and drug consumption among individuals aged 15-64. Although Spain was one of the countries hardest hit by the economic downturn, the crisis was unevenly felt across the country. Therefore, we exploit this difference in unemployment rates across provinces to identify the effects of business cycle variations on the consumption of legal and illegal drugs. To the best of our knowledge, this is the first study to find a relation between the deterioration of local economic conditions and a strong increase in the consumption of marihuana and cocaine. We also report a decrease in alcohol consumption but a significant escalation in abusive smoking behavior (smoking every day). We believe that these findings are important not only for the potential negative implications at the individual level but also for the costs to society as a whole. PMID:27039369

  17. Estimating parental relationship in linkage analysis of recessive traits

    SciTech Connect

    Merette, C.; Ott, J.

    1996-05-17

    In linkage analysis of recessive traits, parental relationship is important. For the case that it is unknown, the question is investigated as to whether estimating parental relationship and using the estimated relationship in linkage analysis is beneficial. Results show that estimating parental relationship can reliably be carried out on the basis of 50-100 genetic marker loci (analysis based on theory by Thompson). Misspecification of parental relationship leads to a loss of linkage informativeness, but not to false-positive evidence for linkage. An asymptotic bias in the recombination fraction estimate occurs when parents are unrelated and falsely taken to be related, but no such bias is seen when related parents are taken to be unrelated. Results from this investigation suggest that an estimated parental relationship may be used in linkage analysis as if it were the correct relationship, when evidence for the estimated relationship is supported by a likelihood ratio of at least 10:1 against the parents being unrelated. 9 refs., 2 figs., 5 tabs.

  18. Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.

    PubMed

    Harding, Brian N; Moccia, Amanda; Drunat, Séverine; Soukarieh, Omar; Tubeuf, Hélène; Chitty, Lyn S; Verloes, Alain; Gressens, Pierre; El Ghouzzi, Vincent; Joriot, Sylvie; Di Cunto, Ferdinando; Martins, Alexandra; Passemard, Sandrine; Bielas, Stephanie L

    2016-08-01

    Primary microcephaly is a neurodevelopmental disorder that is caused by a reduction in brain size as a result of defects in the proliferation of neural progenitor cells during development. Mutations in genes encoding proteins that localize to the mitotic spindle and centrosomes have been implicated in the pathogenicity of primary microcephaly. In contrast, the contractile ring and midbody required for cytokinesis, the final stage of mitosis, have not previously been implicated by human genetics in the molecular mechanisms of this phenotype. Citron kinase (CIT) is a multi-domain protein that localizes to the cleavage furrow and midbody of mitotic cells, where it is required for the completion of cytokinesis. Rodent models of Cit deficiency highlighted the role of this gene in neurogenesis and microcephaly over a decade ago. Here, we identify recessively inherited pathogenic variants in CIT as the genetic basis of severe microcephaly and neonatal death. We present postmortem data showing that CIT is critical to building a normally sized human brain. Consistent with cytokinesis defects attributed to CIT, multinucleated neurons were observed throughout the cerebral cortex and cerebellum of an affected proband, expanding our understanding of mechanisms attributed to primary microcephaly. PMID:27453579

  19. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

    PubMed Central

    Lemaire, Mathieu; Frémeaux-Bacchi, Véronique; Schaefer, Franz; Choi, Murim; Tang, Wai Ho; Le Quintrec, Moglie; Fakhouri, Fadi; Taque, Sophie; Nobili, François; Martinez, Frank; Ji, Weizhen; Overton, John D.; Mane, Shrikant M.; Nürnberg, Gudrun; Altmüller, Janine; Thiele, Holger; Morin, Denis; Deschenes, Georges; Baudouin, Véronique; Llanas, Brigitte; Collard, Laure; Majid, Mohammed A.; Simkova, Eva; Nürnberg, Peter; Rioux-Leclerc, Nathalie; Moeckel, Gilbert W.; Gubler, Marie Claire; Hwa, John; Loirat, Chantal; Lifton, Richard P.

    2013-01-01

    Pathologic thrombosis is a major cause of mortality. Hemolytic-uremic syndrome (HUS) features episodes of small vessel thrombosis resulting in microangiopathic hemolytic anemia, thrombocytopenia and renal failure1. Atypical HUS (aHUS) can result from genetic or autoimmune factors2 that lead to pathologic complement cascade activation3. By exome sequencing we identify recessive mutations in DGKE (diacylglycerol kinase epsilon) that co-segregate with aHUS in 9 unrelated kindreds, defining a distinctive Mendelian disease. Affected patients present with aHUS before age 1, have persistent hypertension, hematuria and proteinuria (sometimes nephrotic range), and develop chronic kidney disease with age. DGKE is found in endothelium, platelets, and podocytes. Arachidonic acid-containing diacylglycerols (DAG) activate protein kinase C, which promotes thrombosis. DGKE normally inactivates DAG signaling. We infer that loss of DGKE function results in a pro-thrombotic state. These findings identify a new mechanism of pathologic thrombosis and kidney failure and have immediate implications for treatment of aHUS patients. PMID:23542698

  20. X-linked recessive atrophic macular degeneration from RPGR mutation.

    PubMed

    Ayyagari, Radha; Demirci, F Yesim; Liu, Jiafan; Bingham, Eve L; Stringham, Heather; Kakuk, Laura E; Boehnke, Michael; Gorin, Michael B; Richards, Julia E; Sieving, Paul A

    2002-08-01

    We mapped a new X-linked recessive atrophic macular degeneration locus to Xp21.1-p11.4 and show allelic involvement of the gene RPGR, which normally causes severe peripheral retinal degeneration leading to global blindness. Ten affected males whom we examined had primarily macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. One additional male showed extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) showed normal cone and rod responses in some affected males despite advanced macular degeneration, emphasizing the dissociation of atrophic macular degeneration from generalized cone degenerations, including X-linked cone dystrophy (COD1). The RPGR gene nonsense mutation G-->T at open reading frame (ORF)15+1164 cosegregated with the disease and may create a donor splice site. Identification of an RPGR mutation in atrophic maculardegeneration expands the phenotypic range associated with this gene and provides a new tool for the dissection of the relationship between clinically different retinal pathologies.

  1. Dominant and Recessive Forms of Fibrochondrogenesis Resulting from Mutations at a Second Locus, COL11A2

    PubMed Central

    Tompson, Stuart W.; Faqeih, Eissa Ali; Ala-Kokko, Leena; Hecht, Jacqueline T.; Miki, Rika; Funari, Tara; Funari, Vincent A.; Nevarez, Lisette; Krakow, Deborah; Cohn, Daniel H.

    2011-01-01

    Fibrochondrogenesis is a severe, recessively inherited skeletal dysplasia shown to result from mutations in the gene encoding the proα1(XI) chain of type XI collagen, COL11A1. The first of two cases reported here was the affected offspring of first cousins and sequence analysis excluded mutations in COL11A1. Consequently, whole-genome SNP genotyping was performed to identify blocks of homozygosity, identical-by-descent, wherein the disease locus would reside. COL11A1 was not within a region of homozygosity, further excluding it as the disease locus, but the gene encoding the proα2(XI) chain of type XI collagen, COL11A2, was located within a large region of homozygosity. Sequence analysis identified homozygosity for a splice donor mutation in intron 18. Exon trapping demonstrated that the mutation resulted in skipping of exon 18 and predicted deletion of 18 amino acids from the triple helical domain of the protein. In the second case, heterozygosity for a de novo 9 bp deletion in exon 40 of COL11A2 was identified, indicating that there are autosomal dominant forms of fibrochondrogenesis. These findings thus demonstrate that fibrochondrogenesis can result from either recessively- or dominantly-inherited mutations in COL11A2. PMID:22246659

  2. Hospital financial performance in the recent recession and implications for institutions that remain financially weak.

    PubMed

    Bazzoli, Gloria J; Fareed, Naleef; Waters, Teresa M

    2014-05-01

    The recent recession had a profound effect on all sectors of the US economy, including health care. We examined how private hospitals fared through the recession and considered how changes in their financial health may affect their ability to respond to future industry challenges. We categorized 2,971 private short-term general medical or surgical hospitals (both nonprofit and for-profit) according to their pre-recession financial health and safety-net status, and we examined their operational status changes and operating and total financial margins during 2006-11. We found that hospitals that were financially weak before the recession remained so during and after the recession. The total margins of nonprofit hospitals (both safety-net and other institutions) declined in 2008 but returned to their pre-recession levels by 2011. The recession did not create additional fiscal pressure on hospitals that were previously financially weak or in safety-net roles. However, both groups continue to have notable financial deficiencies that could limit their abilities to meet the growing demands on the industry.

  3. A recessive genetic model and runs of homozygosity in major depressive disorder.

    PubMed

    Power, Robert A; Keller, Matthew C; Ripke, Stephan; Abdellaoui, Abdel; Wray, Naomi R; Sullivan, Patrick F; Breen, Gerome

    2014-03-01

    Genome-wide association studies (GWASs) of major depressive disorder (MDD) have yet to identify variants that surpass the threshold for genome-wide significance. A recent study reported that runs of homozygosity (ROH) are associated with schizophrenia, reflecting a novel genetic risk factor resulting from increased parental relatedness and recessive genetic effects. Here, we explore the possibility of such a recessive model in MDD. In a sample of 9,238 cases and 9,521 controls reported in a recent mega-analysis of 9 GWAS we perform an analysis of ROH and common variants under a recessive model. Since evidence for association with ROH could reflect a recessive mode of action at loci, we also conducted a genome-wide association analyses under a recessive model. The genome-wide association analysis using a recessive model found no significant associations. Our analysis of ROH suggested that there was significant heterogeneity of effect across studies in effect (P = 0.001), and it was associated with genotyping platform and country of origin. The results of the ROH analysis show that differences across studies can lead to conflicting systematic genome-wide differences between cases and controls that are unaccounted for by traditional covariates. They highlight the sensitivity of the ROH method to spurious associations, and the need to carefully control for potential confounds in such analyses. We found no strong evidence for a recessive model underlying MDD. PMID:24482242

  4. Reliability and validity of a school recess physical activity recall in Spanish youth.

    PubMed

    Martínez-Gómez, David; Calabro, M Andres; Welk, Gregory J; Marcos, Ascension; Veiga, Oscar L

    2010-05-01

    Recess is a frequent target in school-based physical activity (PA) promotion research but there are challenges in assessing PA during this time period. The purpose of this study was to evaluate the reliability and validity of a recess PA recall (RPAR) instrument designed to assess total PA and time spent in moderate to vigorous PA (MVPA) during recess. One hundred twenty-five 7th and 8th-grade students (59 females), age 12-14 years, participated in the study. Activity levels were objectively monitored on Mondays using different activity monitors (Yamax Digiwalker, Biotrainer and ActiGraph). On Tuesdays, 2 RPAR self-reports were administered within 1-hr. Test-retest reliability showed ICC = 0.87 and 0.88 for total PA and time spent in MVPA, respectively. The RPAR was correlated against Yamax (r = .35), Biotrainer (r = .40 and 0.54) and ActiGraph (r = .42) to assess total PA during recess. The RPAR was also correlated against ActiGraph (r = .54) to assess time spent in MVPA during recess. Mean difference between the RPAR and ActiGraph to assess time spent in MVPA during recess was no significant (2.15 +/- 3.67 min, p = .313). The RPAR showed an adequate reliability and a reasonable validity for assessing PA during the school recess in youth. PMID:20567043

  5. Federal spending on behavioral health accelerated during recession as individuals lost employer insurance.

    PubMed

    Levit, Katharine R; Mark, Tami L; Coffey, Rosanna M; Frankel, Sasha; Santora, Patricia; Vandivort-Warren, Rita; Malone, Kevin

    2013-05-01

    The 2007-09 recession had a dramatic effect on behavioral health spending, with the effect most prominent for private, state, and local payers. During the recession behavioral health spending increased at a 4.6 percent average annual rate, down from 6.1 percent in 2004-07. Average annual growth in private behavioral health spending during the recession slowed to 2.7 percent from 7.2 percent in 2004-07. State and local behavioral health spending showed negative average annual growth, -1.2 percent, during the recession, compared with 3.7 percent increases in 2004-07. In contrast, federal behavioral health spending growth accelerated to 11.1 percent during the recession, up from 7.2 percent in 2004-07. These behavioral health spending trends were driven largely by increased federal spending in Medicaid, declining private insurance enrollment, and severe state budget constraints. An increased federal Medicaid match reduced the state share of Medicaid spending, which prevented more drastic cuts in state-funded behavioral health programs during the recession. Federal Medicaid served as a critical safety net for people with behavioral health treatment needs during the recession.

  6. Icebox, a recessive X-linked mutation in Drosophila causing low sexual receptivity.

    PubMed

    Kerr, C; Ringo, J; Dowse, H; Johnson, E

    1997-11-01

    The X-linked recessive mutation icebox (ibx; 1-23, 7F1) of Drosophila melanogaster lowers the sexual receptivity of females. The probability of mating with mature wild-type males is reduced in ibx homozygotes, and the frequency of rejection behavior (rate per minute) towards courting males is increased. ibx fails to complement In(1)RA35, which is a lethal allele of Neuroglian (Nrg, which encodes a transmembrane protein found in embryonic tissues including the nervous system) due to a breakpoint in that gene; however, both l(1)B4 and l(1)VA142, other lethal mutations of Nrg, do complement ibx. 12-h ibx embryos exhibit a normal pattern of staining for the Neuroglian-specific antibody, Mab BP104. Males and females mutant for ibx have normal egg-to-adult survival and appear normal in several "general" behavioral traits including olfaction, phototaxis, locomotor activity, and heartbeat. ibx males court normally, and are successful in mating. These characteristics suggest that ibx does not cause sensory or motor defects. Ovarian growth and sperm storage are wild-type in ibx/ibx females. Treatment with the JH analog methoprene increases the receptivity of ibx/ibx females.

  7. Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

    PubMed Central

    Hirano, Ryuki; Interthal, Heidrun; Huang, Cheng; Nakamura, Tomonori; Deguchi, Kimiko; Choi, Kunho; Bhattacharjee, Meenakshi B; Arimura, Kimiyoshi; Umehara, Fujio; Izumo, Shuji; Northrop, Jennifer L; Salih, Mustafa A M; Inoue, Ken; Armstrong, Dawna L; Champoux, James J; Takashima, Hiroshi; Boerkoel, Cornelius F

    2007-01-01

    Tyrosyl-DNA phosphodiesterase 1 (Tdp1) cleaves the phosphodiester bond between a covalently stalled topoisomerase I (Topo I) and the 3′ end of DNA. Stalling of Topo I at DNA strand breaks is induced by endogenous DNA damage and the Topo I-specific anticancer drug camptothecin (CPT). The H493R mutation of Tdp1 causes the neurodegenerative disorder spinocerebellar ataxia with axonal neuropathy (SCAN1). Contrary to the hypothesis that SCAN1 arises from catalytically inactive Tdp1, Tdp1−/− mice are indistinguishable from wild-type mice, physically, histologically, behaviorally, and electrophysiologically. However, compared to wild-type mice, Tdp1−/− mice are hypersensitive to CPT and bleomycin but not to etoposide. Consistent with earlier in vitro studies, we show that the H493R Tdp1 mutant protein retains residual activity and becomes covalently trapped on the DNA after CPT treatment of SCAN1 cells. This result provides a direct demonstration that Tdp1 repairs Topo I covalent lesions in vivo and suggests that SCAN1 arises from the recessive neomorphic mutation H493R. This is a novel mechanism for disease since neomorphic mutations are generally dominant. PMID:17948061

  8. The Impact of the Great Recession on School District Finances: Evidence from New York. Working Paper #03-12

    ERIC Educational Resources Information Center

    Chakrabarti, Rajashri; Setren, Elizabeth

    2012-01-01

    There is a slowly emerging literature that seeks to understand how the Great Recession affected other parts of the economy; however, there is no research that examines the effect of Great Recession (or any other recession) on schools. Given the fundamental role of education in human capital formation and growth, it is essential to understand the…

  9. Economic Recession, Teacher-Reported Cuts to School Resources, and Children's Economic and Psychiatric Problems in Young Adulthood

    ERIC Educational Resources Information Center

    Huurre, Taina; Santalahti, Päivi; Kiviruusu, Olli; Solantaus, Tytti

    2015-01-01

    The study investigated whether cuts to school resources made during economic recession contribute to children's psychiatric and economic problems in early adulthood. The cohort consisted of 817 Finnish children. Data was gathered from teachers during a recession (child age 12) and from national registers on children's post-recession use of…

  10. The Great Recession and employee alcohol use: a U.S. population study.

    PubMed

    Frone, Michael R

    2016-03-01

    This is the first study to examine broadly the overall net change in U.S. population estimates of alcohol use related to a recession--The Great Recession--among individuals who remain employed. The alcohol variables included drinker status, usual frequency and quantity of alcohol use, frequency of heavy drinking and intoxication, as well as contextual assessments of the frequency and quantity of alcohol use during the workday and after work. The moderating influence of gender, race, and age also was explored. Data for this repeated cross-sectional study were obtained from 2 national telephone surveys of U.S. workers. The first survey occurred prior to the Great Recession (2002-2003; N = 2,501), whereas the second survey occurred during and after the official end of the Great Recession (2008-2011; N = 2,581). The results revealed that the recession was related to a higher proportion of drinkers among middle-aged employees, but not among young employees. Gender and race did not moderate the relation of the recession to drinker status. Among drinkers, the recession was not related to usual alcohol use (frequency and quantity), but was positively related to the frequency of heavy drinking and intoxication. Further, the recession had a differential relation to the contextual alcohol measures. It was negatively related to the frequency and quantity of workday alcohol use, but was positively related to the frequency and quantity of afterwork alcohol use. Among drinkers, gender, race, and age did not moderate the relation of the recession to alcohol use. PMID:26692295

  11. A gene responsible for profound congenital nonsyndromal recessive deafness maps to the pericentromeric region of chromosome 17

    SciTech Connect

    Friedman, T.B.; Liang, Y.; Asher, J.H. Jr.

    1994-09-01

    Autosomal recessive deafness is the most common form of human hereditary hearing loss. Two percent of the 2,185 residents of Bengkala, Bali, Indonesia have profound congenital neurosensory nonsyndromal hereditary deafness due to a fully penetrant autosomal recessive mutation (NARD1). Families, identified through children with profound congenital deafness having hearing parents, give the expected 25% deaf progeny when corrected for ascertainment bias. Congenitally deaf individuals from Bengkala show no response to pure tone audiological examination. Obligate heterozygotes for autosomal recessive deafness in Bengkala have normal or borderline normal hearing. A chromosomal location for NARD1 was assigned directly using a linkage strategy that combines allele-frequency dependent homozygosity mapping (AHM) followed by an analysis of historical recombinants to position NARD1 relative to flanking markers. Thirteen deaf Bengkala villagers of hearing parents were typed initially for 148 STRPs distributed across the human genome and a cluster of tightly linked 17p markers with a significantly higher number of homozygotes than expected under Hardy-Weinberg and linkage equilibrium were identified. NARD1 maps closest to STRPs for D17S261 (Mfd41) and D17S805 (AFM234ta1) that are 3.2 cM apart. Recombinant genotypes for the flanking markers, D17S122 (VAW409) and D17S783 (AFM026vh7), in individuals homozygous for NARD1 place NARD1 in a 5.3 cM interval of the pericentromeric region of chromosome 17 on a refined 17p-17q12 genetic map.

  12. Landscape and Storm Controls on Recession Coefficients over Small Mountainous Catchments in Taiwan

    NASA Astrophysics Data System (ADS)

    Lee, Jun-Yi; Huang, -Chuan, Jr.; Lee, Tsung-Yu; Chen, Yi-Chin; Shih, Yu-Ting; Shen, Che-Wei

    2016-04-01

    Recession characteristics of catchments is one of the main concerns of runoff generation, water resources and aquatic ecosystem management. Numerous previous studies accessed the relationship between recession and landscape characteristics to estimate the recession behavior in ungauged watersheds. However, most studies used the single 'representative' recession parameter to correlate with landscape features. Fewer studies combined the landscape features with multi rainstorms to determine the change of recession parameters in different landscape conditions. Meanwhile, the recession behaviors in small mountainous rivers are rarely documented and discussed. Here, we collected hourly streamflow observations from 19 subtropical mountainous catchments with over 600 rainstorms to evaluate recession coefficients of quick and slow recession segments (Tq and Ts). Results revealed that Tq and Ts are 8.6±6.2 hr and 30.7±18.5 hr for the watersheds indicating the travel time in this region is in the hourly scale. Both Tq and Ts are fairly good related to several landscape characteristics, notably drainage density (R2 > 0.39, power) is negative to both Tq and Ts , and slope of stream network (R2 >0.45, exponential) is positive to both Tq and Ts . In addition, Both Tq and Ts are fairly good related to several storm characteristics, negative to peak flow (R2 >0.20, power), positive to duration of rising lamb (R2 >0.59, exponential). Besides, and initial flow is positive (R2 =0.28, linear) correlated to both Tq and Ts as well. Both Tq and Ts increase (Tq from 5 to 12 hr, Ts from 25 to 43 hr) with the decrease of drainage density. Meanwhile, both Tq and Ts decrease 1 to 3 hr with increase of peak flow. The difference of Ts caused by rainstorms decreases with the increase of drainage density. Therefore, the drainage density, slope, and elongation are the first-order factor for recession behavior. The storm magnitude and duration play a secondary role in the recession behavior. The

  13. Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy.

    PubMed

    Mashiah, J; Harel, A; Bitterman, O; Sagi, L; Gat, A; Fellig, Y; Ben-Shachar, S; Sprecher, E

    2016-06-01

    Consanguinity is known to be associated with an increase in the prevalence of autosomal recessive disorders such as autosomal recessive congenital ichthyosis (ARCI). ARCI often responds well to retinoid treatment. We describe a patient with ARCI who improved under isotretinoin treatment. The patient subsequently developed elevated levels of serum creatinine phosphokinase (CPK), which led to the diagnosis of a second autosomal recessive disorder, dysferlinopathy, a rare myopathy characterized by muscle weakness, decreased tendon reflexes and marked elevation of CPK levels. This report demonstrates the need for physicians to remain alert to the possible coexistence of rare and mutually relevant disorders in populations with a high rate of consanguinity. PMID:26620441

  14. Association between Ag1-CA Alleles and Severity of Autosomal Recessive Proximal Spinal Muscular Atrophy

    PubMed Central

    DiDonato, Christine J.; Morgan, Kenneth; Carpten, John D.; Fuerst, Paul; Ingraham, Susan E.; Prescott, Gary; McPherson, John D.; Wirth, Brunhilde; Zerres, Klaus; Hurko, Orest; Wasmuth, John J.; Mendell, Jerry R.; Burghes, Arthur H. M.; Simard, Louise R.

    1994-01-01

    The gene for autosomal recessive proximal spinal muscular atrophy (SMA) has been mapped to an 850-kb interval on 5q11.2-q13.3, between the centromeric D5S823 and telomeric D5S557 markers. We report a new complex marker, Ag1-CA, that lies in this interval, whose primers produce one, two, or rarely three amplification-fragment-length variants (AFLVs) per allele. Class I chromosomes are those which amplify a single AFLV allele, and class II chromosomes are those which amplify an allele with two or three AFLVs. Ag1-CA shows highly significant allelic association with type I SMA in both the French Canadian (Hôpital Sainte-Justine [HSJ]) and American (Ohio State University [OSU]) populations (P<.0001). Significant association between the Ag1-CA genotype and disease severity was also observed. Type I patients were predominantly homozygous for class I chromosomes (P=.0003 OSU; P=.0012 HSJ), whereas the majority of type II patients were heterozygous for class I and II chromosomes (P=.0014 OSU; P=.001 HSJ). There was no significant difference in Ag1-CA genotype frequencies between type III patients (P=.5 OSU; P=.25 HSJ) and the paired normal chromosomes from both carrier parents. Our results indicate that Ag1-CA is the most closely linked marker to SMA and defines the critical candidate-gene region. Finally, we have proposed a model that should be taken into consideration when screening candidate SMA genes. ImagesFigure 1Figure 2 PMID:7977383

  15. A historical perspective of the effect of the great recession on hospitals.

    PubMed

    Shortt, Janet

    2014-08-01

    At 18 months, the Great Recession of December 2007 to June 2009 is the longest recession since World War II. The recession led to soaring unemployment, resulting in loss of employment-based health insurance for millions of people. In addition to seeing increases in uninsured patients, hospitals experienced losses in their investment portfolios, which in turn increased bad debt, charity care, and uncompensated care nationwide. Hospital executives began to devise cost-cutting strategies to balance the rising debt, such as standardizing medical equipment, cutting staff positions, and delaying construction projects and capital expenditures as well as implementing value analysis strategies. The recession is officially over, and, although economic recovery has been slow and unemployment continues to be an issue, hospitals' net revenue started improving as of 2009 and hospital construction started increasing in 2010. Still, caution is warranted in the postrecession climate, because it is unknown what effects will be seen when the Baby Boomer generation begins using Medicare.

  16. A historical perspective of the effect of the great recession on hospitals.

    PubMed

    Shortt, Janet

    2014-08-01

    At 18 months, the Great Recession of December 2007 to June 2009 is the longest recession since World War II. The recession led to soaring unemployment, resulting in loss of employment-based health insurance for millions of people. In addition to seeing increases in uninsured patients, hospitals experienced losses in their investment portfolios, which in turn increased bad debt, charity care, and uncompensated care nationwide. Hospital executives began to devise cost-cutting strategies to balance the rising debt, such as standardizing medical equipment, cutting staff positions, and delaying construction projects and capital expenditures as well as implementing value analysis strategies. The recession is officially over, and, although economic recovery has been slow and unemployment continues to be an issue, hospitals' net revenue started improving as of 2009 and hospital construction started increasing in 2010. Still, caution is warranted in the postrecession climate, because it is unknown what effects will be seen when the Baby Boomer generation begins using Medicare. PMID:25080418

  17. A Recess Evaluation with the Players: Taking Steps Toward Participatory Action Research

    PubMed Central

    Ren, Julie Yunyi

    2010-01-01

    This playground study conceptualizes recess as a time and space that belongs to students; their inclusion in this evaluation is a notable difference from other recess/playground research. The goal was to help elementary school students make the changes they felt were needed on their playground. After conducting structured observations and student and recess aide focus groups, a report was presented to all stakeholders, and recess changes were made. We seek to show how the process of being inclusive during the evaluation was not only valuable for determining problem definition and potential interventions, but was also necessary to determine the best methods for solutions, move toward second-order change, and to create a space to facilitate children’s participation and empowerment. PMID:20544270

  18. Peer Mediation to Increase Communication and Interaction at Recess for Students with Autism Spectrum Disorders

    PubMed Central

    Mason, Rose; Kamps, Debra; Turcotte, Amy; Cox, Suzanne; Feldmiller, Sarah; Miller, Todd

    2015-01-01

    Recess plays an integral role in the social and emotional development of children given the time provided to engage in interactions with others and practice important social skills. Students with ASD, however, typically fail to achieve even minimal benefit from recess due to social and communication impairments as well as a tendency to withdraw. Implementation of evidence-based interventions such as peer-mediated social skills groups, are necessary to ensure recess is an advantageous learning environment for students with ASD. A multiple-baseline design across participants was used to determine if a functional relationship exists between a social skills instructional program combined with peer networks with school staff as implementers and increases in level of communicative acts for participants with ASD at recess. Results indicate all participants demonstrated an immediate increase in the number of communicative acts with the introduction of the intervention. Implications for practice are discussed. PMID:26180543

  19. How many loci on the X-chromosome of Drosophila melanogaster can mutate to recessive lethals

    SciTech Connect

    Abrahamson, S.; Wuergler, F.E.; DeJongh, C.; Meyer, H.U.

    1980-01-01

    The sensitivity of the sex-linked recessive lethal test is due to the fact that a very large number of loci are included in the mutation study. From extensive studies on the spontaneous sex-linked recessive lethal frequency and spontaneous specific locus mutation rates, it is possible to derive an estimate of the number of loci included in the recessive lethal test. The average number derived from three estimates on male and female germ cells in 563 loci. A second independent approach derives from published data which analyzed short regions of the genome and the proportion of loci within these regions which mutate to lethality. This analysis suggests that 830 loci are potentially lethal mutables. We describe the reasons for concluding that 600 to 800 loci of the approximately 1000 loci on the X-chromosome are involved in the X-linked recessive lethal test.

  20. Esthetic dentistry for multiple gingival recession cases: Coronally advanced flap with bracket application

    PubMed Central

    Gulati, Minkle; Saini, Ashish; Anand, Vishal; Govila, Vivek

    2016-01-01

    Treatment of gingival recession is essential to rectify the esthetic and functional deficiencies of the patient and to combat further periodontal destruction. However, treating multiple recession cases is quite challenging, and therefore requires constant modifications of the prevalent treatment strategies as per the severity of the condition. The objective of this case report was to evaluate the effectiveness of coronally advanced flap (CAF) technique without vertical incisions using CAF brackets (CAF+B) for treating a patient presenting with class II gingival recession defects in relation to maxillary anteriors. Complete root coverage was observed, and the results were consistent even after 6 months. The current case report demonstrates good outcomes of the CAF + B technique without the use of any additional soft tissue grafts or vertical incisions, therefore, endorsing the promising potential of the CAF + B technique in multiple gingival recession cases. PMID:27143837

  1. Esthetic dentistry for multiple gingival recession cases: Coronally advanced flap with bracket application.

    PubMed

    Gulati, Minkle; Saini, Ashish; Anand, Vishal; Govila, Vivek

    2016-01-01

    Treatment of gingival recession is essential to rectify the esthetic and functional deficiencies of the patient and to combat further periodontal destruction. However, treating multiple recession cases is quite challenging, and therefore requires constant modifications of the prevalent treatment strategies as per the severity of the condition. The objective of this case report was to evaluate the effectiveness of coronally advanced flap (CAF) technique without vertical incisions using CAF brackets (CAF+B) for treating a patient presenting with class II gingival recession defects in relation to maxillary anteriors. Complete root coverage was observed, and the results were consistent even after 6 months. The current case report demonstrates good outcomes of the CAF + B technique without the use of any additional soft tissue grafts or vertical incisions, therefore, endorsing the promising potential of the CAF + B technique in multiple gingival recession cases. PMID:27143837

  2. Gingival recession and its association with calculus in subjects deprived of prophylactic dental care.

    PubMed

    van Palenstein Helderman, W H; Lembariti, B S; van der Weijden, G A; van 't Hof, M A

    1998-02-01

    This paper describes the prevalence and severity of gingival recession in Tanzanian adults covering the age range from 20 to 64 years. In addition, it attempts to assess the relationship between the degree of gingival recession and the presence and amount of calculus. In the 20-34 years age group recession occurred in > or = 32% of the buccal, > or = 25% of the lingual, and > or = 13% of the approximal surfaces. These %s increased to > or = 64%, > or = 52%, and > or = 48%, respectively, in the 45-64 years age group. In the 20-34 years age group, lingual surfaces of mandibular incisors and canines followed by buccal surfaces of these teeth were the sites most severely affected with gingival recession. With increasing age, all sites became gradually more severely affected, particularly the buccal and lingual surfaces of the maxillary first molar. The lingual surfaces of mandibular incisors exhibited on an average 1.3 mm, 2.4 mm and 3.2 mm recession in the 20-34 years, 35-44 years and 45-64 years age group, respectively. Most of the correlation coefficients between gingival recession and calculus at the individual tooth surface in three age groups were statistically significant. The highest correlation coefficients (0.50-0.67) were found in the youngest (20-34 years) age group at the lingual surfaces of the mandibular incisors, canine and first premolar and at the buccal surfaces of the mandibular incisors. Based on these findings, the working hypothesis is advanced that longstanding calculus is an important determinant in the onset of gingival recession at sites exhibiting pronounced recession at a young age in populations deprived of prophylactic dental care.

  3. Do Economic Recessions During Early and Mid-Adulthood Influence Cognitive Function in Older Age?

    PubMed Central

    Leist, Anja K.; Hessel, Philipp; Avendano, Mauricio

    2014-01-01

    Background Fluctuations in the national economy shape labour market opportunities and outcomes, which in turn may influence the accumulation of cognitive reserve. This study examines whether economic recessions experienced in early and mid-adulthood are associated with later-life cognitive function. Method Data came from 12,020 respondents in 11 countries participating in the Survey of Health, Ageing and Retirement in Europe (SHARE). Cognitive assessments in 2004/5 and 2006/7 were linked to complete work histories retrospectively collected in 2008/9, and to historical annual data on fluctuations in Gross Domestic Product (GDP) per capita for each country. Controlling for confounders, we assessed whether recessions experienced at ages 25-34, 35-44 and 45-49 were associated with cognitive function at ages 50-74. Results Among men, each additional recession at ages 45-49 was associated with worse cognitive function at ages 50-74 (b = -0.06, Confidence Interval [CI] -0.11, -0.01). Among women, each additional recession at ages 25-44 was associated with worse cognitive function at ages 50-74 (b25-34 = -0.03, CI -0.04, -0.01; b35-44= -0.02, CI -0.04, -0.00). Among men, recessions at ages 45-49 influenced risk of being laid-off, whereas among women, recessions at ages 25-44 led to working part-time and higher likelihood of downward occupational mobility, which were all predictors of worse later-life cognitive function. Conclusions Recessions at ages 45-49 among men and 25-44 among women are associated with later-life cognitive function, possibly via more unfavourable labour market trajectories. If replicated in future studies, findings may indicate that policies that ameliorate the impact of recessions on labour market outcomes may promote later-life cognitive function. PMID:24258197

  4. 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.

  5. Recession-based hydrological models for estimating low flows in ungauged catchments in the Himalayas

    NASA Astrophysics Data System (ADS)

    Rees, H. G.; Holmes, M. G. R.; Young, A. R.; Kansakar, S. R.

    The Himalayan region of Nepal and northern India experiences hydrological extremes from monsoonal floods during July to September, when most of the annual precipitation falls, to periods of very low flows during the dry season (December to February). While the monsoon floods cause acute disasters such as loss of human life and property, mudslides and infrastructure damage, the lack of water during the dry season has a chronic impact on the lives of local people. The management of water resources in the region is hampered by relatively sparse hydrometerological networks and consequently, many resource assessments are required in catchments where no measurements exist. A hydrological model for estimating dry season flows in ungauged catchments, based on recession curve behaviour, has been developed to address this problem. Observed flows were fitted to a second order storage model to enable average annual recession behaviour to be examined. Regionalised models were developed, using a calibration set of 26 catchments, to predict three recession curve parameters: the storage constant; the initial recession flow and the start date of the recession. Relationships were identified between: the storage constant and catchment area; the initial recession flow and elevation (acting as a surrogate for rainfall); and the start date of the recession and geographic location. An independent set of 13 catchments was used to evaluate the robustness of the models. The regional models predicted the average volume of water in an annual recession period (1st of October to the 1st of February) with an average error of 8%, while mid-January flows were predicted to within ±50% for 79% of the catchments in the data set.

  6. Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

    PubMed

    Tanphaichitr, V S; Sumboonnanonda, A; Ideguchi, H; Shayakul, C; Brugnara, C; Takao, M; Veerakul, G; Alper, S L

    1998-12-15

    The AE1 gene encodes band 3 Cl-/HCO3- exchangers that are expressed both in the erythrocyte and in the acid-secreting, type A intercalated cells of the kidney. Kidney AE1 contributes to urinary acidification by providing the major exit route for HCO3- across the basolateral membrane. Several AE1 mutations cosegregate with dominantly transmitted nonsyndromic renal tubular acidosis (dRTA). However, the modest degree of in vitro hypofunction exhibited by these dRTA-associated mutations fails to explain the disease phenotype in light of the normal urinary acidification associated with the complete loss-of-function exhibited by AE1 mutations linked to dominant spherocytosis. We report here novel AE1 mutations linked to a recessive syndrome of dRTA and hemolytic anemia in which red cell anion transport is normal. Both affected individuals were triply homozygous for two benign mutations M31T and K56E and for the loss-of-function mutation, G701D. AE1 G701D loss-of-function was accompanied by impaired trafficking to the Xenopus oocyte surface. Coexpression with AE1 G701D of the erythroid AE1 chaperonin, glycophorin A, rescued both AE1-mediated Cl- transport and AE1 surface expression in oocytes. The genetic and functional data both suggest that the homozygous AE1 G701D mutation causes recessively transmitted dRTA in this kindred with apparently normal erythroid anion transport. PMID:9854053

  7. Two Non-target Recessive Genes Confer Resistance to the Anti-Oomycete Microtubule Inhibitor Zoxamide in Phytophthora capsici

    PubMed Central

    Cai, Meng; Zhu, Shusheng; Pang, Zhili; Liu, Xili

    2014-01-01

    This study characterized isolates of P. capsici that had developed a novel mechanism of resistance to zoxamide, which altered the minimum inhibition concentration (MIC) but not the EC50. Molecular analysis revealed that the β-tubulin gene of the resistant isolates contained no mutations and was expressed at the same level as in zoxamide-sensitive isolates. This suggested that P. capsici had developed a novel non-target-site-based resistance to zoxamide. Analysis of the segregation ratio of zoxamide-resistance in the sexual progeny of the sensitive isolates PCAS1 and PCAS2 indicated that the resistance to zoxamide was controlled by one or more recessive nuclear genes. Furthermore, the segregation of resistance in the F1, F2, and BC1 progeny was in accordance with the theoretical ratios of the χ2 test (P>0.05), which suggested that the resistance to zoxamide was controlled by two recessive genes, and that resistance to zoxamide occurred when at least one pair of these alleles was homozygous. This implies that the risk of zoxamide-resistance in P. capsici is low to moderate. Nevertheless this potential for resistance should be monitored closely, especially if two compatible mating types co-exist in the same field. PMID:24586697

  8. The Great Recession and Drinking Outcomes: Protective Effects of Politically Oriented Coping

    PubMed Central

    Richman, Judith A.; Brown, Robyn Lewis; Rospenda, Kathleen M.

    2014-01-01

    Research derived from the stress paradigm suggests that certain types of coping (e.g., problem-focused coping instead of behavioral disengagement) are protective against problem-related drinking to deal with social stressors. Going beyond the typical focus in the coping literature, we hypothesize that stressors engendered by macrolevel social forces may require coping actions within the political realm in contrast to modes of coping focused outside of the political realm. A United States sample of 663 respondents completed a mail survey in 2010, including measures of stressful consequences of the Great Recession, drinking patterns and problems, modes of coping encompassed in the Brief COPE instrument, and politically oriented coping. Structural equation modeling examined whether modes of coping mediated the links between stressors and drinking outcomes. A substantial portion of the associations between stressors and drinking was explained by modes of coping. Politically oriented coping was protective against problem drinking for both genders. Future studies should further explore politically oriented coping in addition to modes of coping outside of the political realm when studying the relationships between macrolevel social stressors and deleterious drinking outcomes. PMID:25302131

  9. Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

    PubMed Central

    Ullah, Rahim; Ansar, Muhammad; Durrani, Zaka Ullah; Lee, Kwanghyuk; Santos-Cortez, Regie Lyn P.; Muhammad, Dost; Ali, Mahboob; Zia, Muhammad; Ayub, Muhammad; Khan, Suliman; Smith, Josh D.; Nickerson, Deborah A.; Shendure, Jay; Bamshad, Michael; Leal, Suzanne M.; Ahmad, Wasim

    2016-01-01

    Background Ichthyoses are clinically characterized by scaling or hyperkeratosis of the skin or both. It can be an isolated condition limited to the skin or appear secondarily with involvement of other cutaneous or systemic abnormalities. Methods The present study investigated clinical and molecular characterization of three consanguineous families (A, B, C) segregating two different forms of autosomal recessive congenital ichthyosis (ARCI). Linkage in three consanguineous families (A, B, C) segregating two different forms of ARCI was searched by typing microsatellite and single nucleotide polymorphism marker analysis. Sequencing of the two genes TGM1 and ALOXE3 was performed by the dideoxy chain termination method. Results Genome-wide linkage analysis established linkage in family A to TGM1 gene on chromosome 14q11 and in families B and C to ALOXE3 gene on chromosome 17p13. Subsequently, sequencing of these genes using samples from affected family members led to the identification of three novel mutations: a missense variant p.Trp455Arg in TGM1 (family A); a nonsense variant p.Arg140* in ALOXE3 (family B); and a complex rearrangement in ALOXE3 (family C). Conclusion The present study further extends the spectrum of mutations in the two genes involved in causing ARCI. Characterizing the clinical spectrum resulting from mutations in the TGM1 and ALOXE3 genes will improve diagnosis and may direct clinical care of the family members. PMID:26578203

  10. The allure of new immigrant destinations and the Great Recession in the United States.

    PubMed

    Ellis, Mark; Wright, Richard; Townley, Matthew

    2014-01-01

    In the 1990s, the immigrant population in the United States dispersed to non-traditional settlement locations (what have become known as "new immigrant destinations"). This paper examines whether the allure of new destinations persisted in the 2000s with a particular focus on the internal migration of the foreign born during the recent deep recessionary period and its aftermath. Three specific questions motivate the analysis. First, are immigrants, much like the US-born population, becoming less migratory within the country over time? Second, is immigrant dispersal from traditional gateways via internal migration continuing despite considerable economic contraction in many new destination metropolitan areas? Third, is immigration from aboard a substitute for what appears to be declining immigrant internal migration to new destinations? The findings reveal a close correlation between the declining internal migration propensity of the US-born and immigrants in the last two decades. We also observe parallels between the geographies of migration of native- and foreign-born populations with both groups moving to similar metropolitan areas in the 1990s. This redistributive association, however, weakened in the subsequent decade as new destination metropolitan areas lost their appeal for both groups, especially immigrants. There is no evidence to suggest that immigration from abroad is substituting for the decline in immigrant redistribution through internal migration to new destinations. Across destination types the relationship between immigration from abroad and the internal migration of the foreign born remained the same before, during, and after the Great Recession.

  11. Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.

    PubMed

    Song, Min-Jung; Lee, Seung-Tae; Lee, Mi-Kyung; Ji, Yongick; Kim, Jong-Won; Ki, Chang-Seok

    2012-02-01

    Although many studies have been performed to identify mutations in Korean patients with various autosomal-recessive Mendelian disorders (AR-MDs), little is known about the carrier frequencies of AR-MDs in the Korean population. Twenty common mutations from six AR-MDs, including Wilson disease (WD), non-syndromic hearing loss (NSHL), glycogen storage disease type Ia (GSD Ia), phenylketonuria (PKU), congenital hypothyroidism (CH), and congenital lipoid adrenal hyperplasia (CLAH) were selected to screen for based on previous studies. A total of 3057 Koreans were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry followed by confirmation using the Sanger sequencing. We found 201 and 8 carriers with either one or two mutations in different genes, respectively, yielding a total carrier frequency of 1 in 15 (6.7%). Of the six AR-MDs, NSHL has the highest carrier frequency followed by WD, CH, CLAH, GSD Ia, and PKU. As carrier screening tests are becoming prevalent and the number of mutations known and tested is rising, a priori data on the carrier frequencies in different ethnic groups is mandatory to plan a population screening program and to estimate its efficiency. In light of this, the present results can be used as a basis to establish a screening policy for common AR-MRs in the Korean population. PMID:22170460

  12. Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3

    SciTech Connect

    Bonne-Tamir, B.; Weiss, S.; Korostishevsky, M.

    1996-06-01

    Deafness is a heterogeneous trait affecting {approximately}1/1,000 newborns. Genetic linkage studies have already implicated more than a dozen distinct loci causing deafness. We conducted a genome search for linkage in a large Palestinian family segregating an autosomal recessive form of nonsyndromic deafness. Our results indicate that in this family the defective gene, DFNB10, is located in a 12-cM region near the telomere of chromosome 21. This genetic distance corresponds to < 2.4 Mbp. Five marker loci typed from this region gave maximum LOD scores {ge}3. Homozygosity of marker alleles was evident for only the most telomeric marker, D21S1259, suggesting that DFNB10 is closest to this locus. To our knowledge, this is the first evidence, at this location, for a gene that is involved in the development or maintenance of hearing. As candidate genes at these and other deafness loci are isolated and characterized, their roles in hearing will be revealed and may lead to development of mechanisms to prevent deafness. 40 refs., 1 fig., 2 tabs.

  13. The allure of new immigrant destinations and the Great Recession in the United States

    PubMed Central

    Ellis, Mark; Wright, Richard; Townley, Matthew

    2013-01-01

    In the 1990s, the immigrant population in the United States dispersed to non-traditional settlement locations (what have become known as “new immigrant destinations”). This paper examines whether the allure of new destinations persisted in the 2000s with a particular focus on the internal migration of the foreign born during the recent deep recessionary period and its aftermath. Three specific questions motivate the analysis. First, are immigrants, much like the US-born population, becoming less migratory within the country over time? Second, is immigrant dispersal from traditional gateways via internal migration continuing despite considerable economic contraction in many new destination metropolitan areas? Third, is immigration from aboard a substitute for what appears to be declining immigrant internal migration to new destinations? The findings reveal a close correlation between the declining internal migration propensity of the US-born and immigrants in the last two decades. We also observe parallels between the geographies of migration of native- and foreign-born populations with both groups moving to similar metropolitan areas in the 1990s. This redistributive association, however, weakened in the subsequent decade as new destination metropolitan areas lost their appeal for both groups, especially immigrants. There is no evidence to suggest that immigration from abroad is substituting for the decline in immigrant redistribution through internal migration to new destinations. Across destination types the relationship between immigration from abroad and the internal migration of the foreign born remained the same before, during, and after the Great Recession. PMID:24791036

  14. Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs).

    PubMed

    Essawi, Mona L; Al-Attribi, Ghada M; Gaber, Khaled R; El-Harouni, Ashraf A

    2012-11-01

    Autosomal recessive childhood spinal muscular atrophy (SMAs) is the second most common neuromuscular disorder and a common cause of infant disability and mortality. SMA patients are classified into three clinical types based on age of onset, and severity of symptoms. About 94% of patients have homozygous deletion of exon 7 in survival motor neuron (SMN1) gene. The neuronal apoptosis inhibitory protein (NAIP) gene was found to be more frequently deleted in the severest form of the disease. This study aimed to comment on the implementation of genetic counseling and prenatal diagnosis of SMAs for 85 fetuses from 75 Egyptian couples at risk of having an affected child. The homozygous deletion of exon 7 in SMN1 gene and the deletion of exon 5 of the NAIP gene were detected using PCR-REFLP and multiplex PCR methods respectively. Eighteen fetuses showed homozygous deletion of exon 7 in SMN1 gene and deletion of exon 5 in NAIP gene. In conclusion prenatal diagnosis is an important tool for accurate diagnosis and genetic counseling that help decision making in high risk families. PMID:22921322

  15. The renin-angiotensin system and hypertension in autosomal recessive polycystic kidney disease.

    PubMed

    Goto, Miwa; Hoxha, Nita; Osman, Rania; Dell, Katherine Macrae

    2010-12-01

    Hypertension is a well-recognized complication of autosomal recessive polycystic kidney disease (ARPKD). The renin-angiotensin system (RAS) is a key regulator of blood pressure; however, data on the RAS in ARPKD are limited and conflicting, showing both up- and down-regulation. In the current study, we characterized intrarenal and systemic RAS activation in relationship to hypertension and progressive cystic kidney disease in the ARPKD orthologous polycystic kidney (PCK) rat. Clinical and histological measures of kidney disease, kidney RAS gene expression by quantitative real-time PCR, angiotensin II (Ang II) immunohistochemistry, and systemic Ang I and II levels were assessed in 2-, 4-, and 6-month-old cystic PCK and age-matched normal rats. PCK rats developed hypertension and progressive cystic kidney disease without significant worsening of renal function or relative kidney size. Intrarenal renin, ACE and Ang II expression was increased significantly in cystic kidneys; angiotensinogen and Ang II Type I receptor were unchanged. Systemic Ang I and II levels did not differ. This study demonstrates that intrarenal, but not systemic, RAS activation is a prominent feature of ARPKD. These findings help reconcile previous conflicting reports and suggest that intrarenal renin and ACE gene upregulation may represent a novel mechanism for hypertension development or exacerbation in ARPKD.

  16. A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

    PubMed Central

    Larti, Farzaneh; Kahrizi, Kimia; Musante, Luciana; Hu, Hao; Papari, Elahe; Fattahi, Zohreh; Bazazzadegan, Niloofar; Liu, Zhe; Banan, Mehdi; Garshasbi, Masoud; Wienker, Thomas F; Ropers, H Hilger; Galjart, Niels; Najmabadi, Hossein

    2015-01-01

    In the context of a comprehensive research project, investigating novel autosomal recessive intellectual disability (ARID) genes, linkage analysis based on autozygosity mapping helped identify an intellectual disability locus on Chr.12q24, in an Iranian family (LOD score=3.7). Next-generation sequencing (NGS) following exon enrichment in this novel interval, detected a nonsense mutation (p.Q1010*) in the CLIP1 gene. CLIP1 encodes a member of microtubule (MT) plus-end tracking proteins, which specifically associates with the ends of growing MTs. These proteins regulate MT dynamic behavior and are important for MT-mediated transport over the length of axons and dendrites. As such, CLIP1 may have a role in neuronal development. We studied lymphoblastoid and skin fibroblast cell lines established from healthy and affected patients. RT-PCR and western blot analyses showed the absence of CLIP1 transcript and protein in lymphoblastoid cells derived from affected patients. Furthermore, immunofluorescence analyses showed MT plus-end staining only in fibroblasts containing the wild-type (and not the mutant) CLIP1 protein. Collectively, our data suggest that defects in CLIP1 may lead to ARID. PMID:24569606

  17. The impact of the great recession on community-based mental health organizations: an analysis of top managers' perceptions of the economic downturn's effects and adaptive strategies used to manage the consequences in Ohio.

    PubMed

    Sweeney, Helen Anne; Knudsen, Kraig

    2014-04-01

    The Great Recession of 2007-2009 adversely affected the financial stability of the community-based mental health infrastructure in Ohio. This paper presents survey results of the type of adaptive strategies used by Ohio community-based mental health organizations to manage the consequences of the economic downturn. Results were aggregated into geographical classifications of rural, mid-sized urban, and urban. Across all groups, respondents perceived, to varying degrees, that the Great Recession posed a threat to their organization's survival. Urban organizations were more likely to implement adaptive strategies to expand operations while rural and midsized urban organizations implemented strategies to enhance internal efficiencies.

  18. Does recession reduce global health aid? Evidence from 15 high-income countries, 1975–2007

    PubMed Central

    Basu, Sanjay; Wang, Stephanie W; McKee, Martin

    2011-01-01

    Abstract Objective To test the hypothesis that economic recessions lead to reduced global development assistance for health (DAH). Methods Data obtained from the Creditor Reporting System of the Organisation for Economic Co-operation and Development (OECD) for 15 OECD countries were used to model the percentage change (relative difference) in commitments and disbursements for DAH as a function of three measures of economic recession: recessionary year (as a dummy variable with 0 for no recession and 1 for recession), percentage change in per capita gross domestic product and percentage point change in unemployment rate for recessionary cycles from 1975 through 2007. We looked for an association both during the concurrent recessionary year and one and two years later. Findings No statistically significant association was found in the short or long run between measures of economic recession and the amount of official DAH committed or disbursed. Conclusion Any important decrease in overall DAH following the current economic recession would have little historical precedent and claims of inevitability would be unjustifiable. PMID:21479089

  19. [THE MOLECULAR GENETIC CHARACTERISTIC OF SPECIES CONTENT OF SALIVA AND GINGIVAL RECESS UNDER PERIODONTITIS].

    PubMed

    Tamarova, E R; Baimiev, A Kh; Shvetz, K Yu; Mavzyutov, A R

    2015-12-01

    The examination was carried out of samplings of 110 patients with periodontitis (observation group) and 60 patients without pathology of periodont (comparison group). The polymerase chain reaction was used to analyze samples of saliva and contents of periodontal recesses for detecting species-specific DNA fragments of Porphymmonas gigngivalis, Streptococcus macacae, S. mutans, S. oralis, S. salivarius, S. sangis, S. sobrinus, Treponema denticola. In patients with periodontitis S. mutans, S. oralis S. sobrinus were reliably more often detected in the content of periodontal recesses and S. mutans, S. sobrinus i in saliva. In the observation group the rate of detection of association S. mutans--S. oralis--S. sangis--S. sobrinus was significantly exceeded (up to 15.6%, X2 = 9.1, p = 0.004). In ten days of effective treatment of periodontitis reliable decreastng of rate of detection of S. wasoralis, S. sobrinus was observed in contents of periodontal recesses but not in of saliva. The detection of S.sobrinus using technique of polymerase chain reaction in contents of periodontal recesses and/or saliva of patients with periodontitis has a diagnostic value. The detection of S.sobrinus in contents of periodontal recesses is significant both in monoculture and in association S. mutans--S. oralis--S. sangis--S.sobrinus. The absence of S. sobrinus in contents of periodontal recesses testifies effectiveness of treatment of main disease (periodontitis).

  20. Bank recession and lakebed downcutting; response to changing water levels at Maumee Bay State Park, Ohio

    USGS Publications Warehouse

    Fuller, J.A.

    2002-01-01

    The shore and nearshore area of Maumee Bay, at the western end of Lake Erie, was studied from 1981 to 1990 and this report documents the impact of water levels on bank recession and lakebed downcutting. The shore of Maumee Bay is composed of a low bank of sand-poor glacial lacustrine silt and clay. Three regimes of lake level occurred during this 9-year study. Each regime produced a different character and rate of erosion. During stable lake levels, erosion occurred as bank recession and as nearshore lakebed downcutting. During rising/high lake levels, bank recession continued, but lakebed downcutting slowed except at the new transgressed shoreline. During falling water levels, bank recession all but ceased, the former shoreline became emergent and lakebed downcutting resumed. Over the 9 years of this study, total bank recession averaged about 20 m and nearshore lakebed downcutting averaged about 50 cm. At lower lake levels the visual (from land) erosion ceased and lakebed downcutting became dominant, which continued to deepen the nearshore. Therefore, when higher lake levels return, waves in the deeper water will have an even greater impact on bank recession rates.

  1. The stability of mutator (MR)-induced X-chromosomal recessive visible mutations in Drosophila melanogaster.

    PubMed

    Eeken, J C

    1982-10-01

    In Drosophila, MR (male recombination) second chromosomes are known to act as mutators and recombination inducers in males. The induction of visible mutations by MR is observed at only a limited number of genes, such as singed bristle (sn), raspberry eye colour (ras), yellow body colour (y) and a carmine eye colour (car). Furthermore, sn mutations induced by MR are highly unstable, changing from a strong to a weak expression or reverting to the wild-type. It has been hypothesized by analogy with IS mutations in microorganisms, that MR-induced mutations also represent mutations of the insertion type. In this investigation the stability of two MR-h12-induced X-linked visible mutations was tested, one singed (snMR) and one raspberry (rasMR). The reversion frequency of both MR-induced mutations was low in the base population as well as upon outcrossing to C(1)DX, yw f females. The data reported here show that the MR-induced mutations become highly unstable when MR is re-introduced. The change of expression of an MR-induced mutation to a weaker phenotype or to the wild-type occurred at a frequency of 3.3 X 10(-3) (ras) to 20.4 X 10(-3) (sn). Recessive lethal mutations induced by MR in the X-chromosomes carrying the MR-induced singed or raspberry mutation were isolated and analysed. Among 11 independently MR-induced lethals in the rasMR-carrying X-chromosome, 4 were found to be allelic to a small deficiency that included the raspberry gene. 13 lethals were induced by MR in the snMR-carrying X-chromosome. Of these, 3 were located near the sn locus but none was allelic to a deficiency including the singed gene. PMID:6815525

  2. Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.

    PubMed

    Warang, P P; Kedar, P S; Shanmukaiah, C; Ghosh, K; Colah, R B

    2015-01-01

    We report the clinical features and molecular characterization of 23 patients with cyanosis due to NADH-cytochrome b5 reductase (NADH-CYB5R) deficiency from India. The patients with type I recessive congenital methemoglobinemia (RCM) presented with mild to severe cyanosis only whereas patients with type II RCM had cyanosis associated with severe neurological impairment. Thirteen mutations were identified which included 11 missense mutations causing single amino acid changes (p.Arg49Trp, p.Arg58Gln, p.Pro145Ser, p.Gly155Glu, p.Arg160Pro, p.Met177Ile, p.Met177Val, p.Ile178Thr, p.Ala179Thr, p.Thr238Met, and p.Val253Met), one stop codon mutation (p.Trp236X) and one splice-site mutation (p.Gly76Ser). Seven of these mutations (p.Arg50Trp, p.Gly155Glu, p.Arg160Pro, p.Met177Ile, p.Met177Val, p.Ile178Thr, and p.Thr238Met) were novel. Two mutations (p.Gly76Ser and p.Trp236X) were identified for the first time in the homozygous state globally causing type II RCM. We used the three-dimensional (3D) structure of human erythrocyte NADH-CYB5R to evaluate the protein structural context of the affected residues. Our data provides a rationale for the observed enzyme deficiency and contributes to a better understanding of the genotype-phenotype correlation in NADH-CYB5R deficiency. PMID:24266649

  3. Glacial lakes amplify glacier recession in the central Himalaya

    NASA Astrophysics Data System (ADS)

    King, Owen; Quincey, Duncan; Carrivick, Jonathan; Rowan, Ann

    2016-04-01

    store large amounts of ice in broad accumulation zones and are more equidimensional (HI -1.2 to 1.2). Glaciers flowing onto the Tibetan Plateau have a similar hypsometric distribution to glaciers of the Dudh Koshi, but terminate at a higher altitude overall, approximately 500 m higher than glaciers of the Dudh Koshi or Tama Koshi. We estimate the approximate Equilibrium Line Altitudes (ELA) of the last 15 years to be above a substantial portion (66%- Dudh Koshi; 87%- Tama Koshi; 83% Tibetan Plateau) of the glacierised area for all three catchments. Future ice recession may therefore be governed primarily by glacier hypsometry, but is likely to be amplified by the continued development of new, or growth of current glacial lakes.

  4. 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

  5. [Drug-induced exacerbation of hypoaldosteronism in autoimmune polyglandular syndrome type 2].

    PubMed

    Krysiak, Robert; Okopień, Bogusław

    2012-01-01

    Hypoaldosteronism is a clinical condition resulting from inadequate stimulation of aIdosterone secretion (hyporeninemic hypoaIdosteronism), defects in adrenal synthesis of aldosterone (hyperreninemic hypoaldosteronism), or resistance to the peripheral action of this hormone (pseudohypoaldosteronism). The disease is characterized by a wide spectrum of clinical manifestations, ranging from asymptomatic hyperkalemia to life-threatening volume depletion, and, if unrecognized and untreated, it increases morbidity and mortality rates. In this paper, we report a case of a woman diagnosed with autoimmune polyglandular syndrome type 2. As a consequence of adrenal cortex destruction, the patient developed subclinical hypoaldosteronism which was effectively treated with small doses of fludrocortisone. Two and fours years later, she required ibuprofen and atenolol treatment and each of these treatments was accompanied by a transient deterioration in mineralocorticoid activity which resolved after drug withdrawal. This case shows for the first time that drugs reducing plasma renin activity may unmask subclinical hypoaldosteronism in subjects with autoimmune polyglandular syndromes, and that they should be avoided in patients with even small disturbances in the hormonal function of the zona glomerulosa.

  6. Recessive mutations in PCBD1 cause a new type of early-onset diabetes.

    PubMed

    Simaite, Deimante; Kofent, Julia; Gong, Maolian; Rüschendorf, Franz; Jia, Shiqi; Arn, Pamela; Bentler, Kristi; Ellaway, Carolyn; Kühnen, Peter; Hoffmann, Georg F; Blau, Nenad; Spagnoli, Francesca M; Hübner, Norbert; Raile, Klemens

    2014-10-01

    Mutations in several genes cause nonautoimmune diabetes, but numerous patients still have unclear genetic defects, hampering our understanding of the development of the disease and preventing pathogenesis-oriented treatment. We used whole-genome sequencing with linkage analysis to study a consanguineous family with early-onset antibody-negative diabetes and identified a novel deletion in PCBD1 (pterin-4 α-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 α), a gene that was recently proposed as a likely cause of diabetes. A subsequent reevaluation of patients with mild neonatal hyperphenylalaninemia due to mutations in PCBD1 from the BIODEF database identified three additional patients who had developed HNF1A-like diabetes in puberty, indicating early β-cell failure. We found that Pcbd1 is expressed in the developing pancreas of both mouse and Xenopus embryos from early specification onward showing colocalization with insulin. Importantly, a morpholino-mediated knockdown in Xenopus revealed that pcbd1 activity is required for the proper establishment of early pancreatic fate within the endoderm. We provide the first genetic evidence that PCBD1 mutations can cause early-onset nonautoimmune diabetes with features similar to dominantly inherited HNF1A-diabetes. This condition responds to and can be treated with oral drugs instead of insulin, which is important clinical information for these patients. Finally, patients at risk can be detected through a newborn screening for phenylketonuria.

  7. The existence of species rests on a metastable equilibrium between inbreeding and outbreeding. An essay on the close relationship between speciation, inbreeding and recessive mutations

    PubMed Central

    2011-01-01

    Background Speciation corresponds to the progressive establishment of reproductive barriers between groups of individuals derived from an ancestral stock. Since Darwin did not believe that reproductive barriers could be selected for, he proposed that most events of speciation would occur through a process of separation and divergence, and this point of view is still shared by most evolutionary biologists today. Results I do, however, contend that, if so much speciation occurs, the most likely explanation is that there must be conditions where reproductive barriers can be directly selected for. In other words, situations where it is advantageous for individuals to reproduce preferentially within a small group and reduce their breeding with the rest of the ancestral population. This leads me to propose a model whereby new species arise not by populations splitting into separate branches, but by small inbreeding groups "budding" from an ancestral stock. This would be driven by several advantages of inbreeding, and mainly by advantageous recessive phenotypes, which could only be retained in the context of inbreeding. Reproductive barriers would thus not arise as secondary consequences of divergent evolution in populations isolated from one another, but under the direct selective pressure of ancestral stocks. Many documented cases of speciation in natural populations appear to fit the model proposed, with more speciation occurring in populations with high inbreeding coefficients, and many recessive characters identified as central to the phenomenon of speciation, with these recessive mutations expected to be surrounded by patterns of limited genomic diversity. Conclusions Whilst adaptive evolution would correspond to gains of function that would, most of the time, be dominant, this type of speciation by budding would thus be driven by mutations resulting in the advantageous loss of certain functions since recessive mutations very often correspond to the inactivation of

  8. Use of autologous platelet rich plasma to treat gingival recession in esthetic periodontal surgery

    PubMed Central

    Naik, Archana R.; Ramesh, Alampalli V.; Dwarkanath, C. D.; Naik, Madhukeshwara S.; Chinnappa, A. B.

    2013-01-01

    Background: Multiple approaches have been used to replace lost, damaged or diseased gingival tissues. Coronally advanced flap (CAF) and the use of guided tissue regeneration are among the successfully used surgical techniques to treat gingival recession. Platelet rich plasma (PRP), containing autologous growth factors, has been shown to promote soft-tissue healing. Therefore, the purpose of this study was to evaluate the efficacy of PRP in combination with CAF in the treatment of gingival recession. Materials and Methods: A total of 15 systemically healthy patients with buccal Miller's class I and class II gingival recession in cuspids or premolars participated in the study. CAF procedure was performed and PRP with collagen sponge was placed over the defect. Clinical parameters such as recession depth, recession width, surface area, width of keratinized gingival (KG), clinical attachment level (CAL), probing depth, plaque index and gingival index were evaluated at 3, 6 and 9 months post-surgery. The percentage of root coverage was calculated. Results: The results of this study suggest that the CAF procedure provides a predictable and simple technique in the treatment of localized Class I and Class II gingival recession. The additional application of PRP does significantly increase the width of KG and gain in clinical attachment. Conclusion: CAF procedure is a predictable and simple technique in the treatment of gingival recession and the additional application of PRP does significantly increase the width of KG and gain in CAL. The long-term benefits following surgical treatment of such defects needs to be determined further. PMID:24049336

  9. Interest and satisfaction of dentists in practicing periodontics: A survey based on treatment of gingival recession

    PubMed Central

    Grover, Vishakha; Kapoor, Anoop; Malhotra, Ranjan; Sachdeva, Sonia

    2012-01-01

    Background: Gingival recession is a common occurrence and patients often report to dental clinic with associated problems such as root surface hypersensitivity, esthetic concerns, cervical root abrasions, and root caries that make it a concern for patients. Based upon the fact that gingival recession is an enigma for clinicians because of multitude of etiological factors and plethora of treatment modalities present for its treatment, a survey was conducted to assess knowledge as well as opinion about most common etiology, classification, and preferred treatment of gingival recession and to evaluate the interest and satisfaction of dentists in practicing periodontics. Materials and Methods: Study design consisted of a cross-sectional online survey, conducted among dentists practicing in state of Punjab, India, in the month of April 2011. A structured online questionnaire consisting of 17 questions evaluating the interest of dentists in periodontics based on knowledge about gingival recession (most of them giving the possibility of multiple choices of answers) was sent to about 300 dentists. Pearson Chi-Square and Mann-Whitney U tests were used for statistical analysis of data collected. P ≤ 0.05 was considered as statistically significant and P ≤ 0.01 considered as highly significant. Results: A greater proportion of periodontists had better knowledge about etiology (P = 0.07), classification (P = 0.000), and treatment of gingival recession (P = 0.000). A greater number of periodontists opted for the surgical modalities to correct the defects produced by gingival recession as compared to non-periodontists and had better interest (P = 0.000) and satisfaction (P = 0.000) in practicing periodontics. Conclusion: The results elucidated that periodontists had better interest and satisfaction in practicing periodontics, and were more inclined towards surgical correction of gingival recession as compared to non-periodontists. PMID:23162580

  10. DOCK2 and a Recessive Immunodeficiency with Early-Onset Invasive Infections

    PubMed Central

    Dobbs, Kerry; Domínguez Conde, Cecilia; Zhang, Shen-Ying; Parolini, Silvia; Audry, Magali; Chou, Janet; Haapaniemi, Emma; Keles, Sevgi; Bilic, Ivan; Okada, Satoshi; Massaad, Michel J.; Rounioja, Samuli; Alwahadneh, Adel M.; Serwas, Nina K.; Capuder, Kelly; Ciftci, Ergin; Felgentreff, Kerstin; Ohsumi, Toshiro K.; Pedergnana, Vincent; Boisson, Bertrand; Haskoloğlu, Sule; Ensari, Arzu; Schuster, Michael; Moretta, Alessandro; Itan, Yuval; Patrizi, Ornella; Rozenberg, Flore; Lebon, Pierre; Saarela, Janna; Knip, Mikael; Petrovski, Slavé; Goldstein, David B.; Parrott, Roberta E.; Savas, Berna; Schambach, Axel; Tabellini, Giovanna; Bock, Christoph; Chatila, Talal; Comeau, Anne Marie; Geha, Raif S.; Abel, Laurent; Buckley, Rebecca H.; Ikincioğullari, Aydan; Al-Herz, Waleed; Helminen, Merja; Doğu, Figen; Casanova, Jean-Laurent; Boztuğ, Kaan; Notarangelo, Luigi D.

    2015-01-01

    Background Combined immunodeficiencies (CIDs) denote inborn errors of T-cell immunity with T cells present but quantitatively or functionally deficient. Impaired humoral immunity, either due to a primary B cell defect or secondary to the T-cell defect, is also frequent. Consequently, patients with CID display severe infections and/or autoimmunity. The specific molecular, cellular, and clinical features of many types of CID remain unknown. Methods We performed genetic and cellular immunological studies in five unrelated children who shared a history of early-onset invasive bacterial and viral infections, with lymphopenia and defective T-, B-, and NK-cell responses. Two patients died early in childhood, whereas the other three underwent allogeneic hematopoietic stem cell transplantation with normalization of T cell function and clinical improvement. Results We identified bi-allelic mutations in the Dedicator Of Cytokinesis 2 (DOCK2) gene in these five patients. RAC1 activation was impaired in T cells. Chemokine-induced migration and actin polymerization were defective in T, B, and NK cells. NK-cell degranulation was also affected. The production of interferon (IFN)-α and -λ by peripheral blood mononuclear cells (PBMCs) was diminished following virus infection. Moreover, in DOCK2-deficient fibroblasts, virus replication was increased and there was enhanced virus-induced cell death, which could be normalized by treatment with IFN-α2β or upon expression of wild-type DOCK2. Conclusions Autosomal recessive DOCK2 deficiency is a Mendelian disorder with pleiotropic defects of hematopoietic and non-hematopoietic immunity. Children with clinical features of CID, especially in the presence of early-onset, invasive infections may have this condition. PMID:26083206

  11. Assessment of the Etiologic Factors of Gingival Recession in a Group of Patients in Northwest Iran

    PubMed Central

    Lafzi, Ardeshir; Abolfazli, Nader; Eskandari, Amir

    2009-01-01

    Background and aims Gingival recession (GR), a common problem in periodontium, is associated with various etiologic factors. There is controversy over the role and importance of these factors. The aim of this study was to evaluate the etiologic factors of GR in a group of subjects in Northwest Iran. Materials and methods In this case-control study, patients referring to a university clinic (123 patients with GR and 123 patients without GR) were evaluated. Patients were examined by an experienced periodontist. A checklist assessing the history of systemic disease, smoking, radiotherapy, orthodontic treatment, chemical and mechanical trauma, tooth-brushing method, type of occlusion, axial inclination of tooth, width and thickness of keratinized gingiva, presence of calculus, prosthesis, faulty restorations and food impaction, and frenum pull was completed for each patient. Chi-square test was used for data analysis. Results Presence of calculus was significantly associated with GR in the evaluated patients (P = 0.000). Low width and thickness of keratinized gingiva, smoking and traumatic tooth brushing were other significant factors (P < 0.05). The type of occlusion, axial inclination of teeth, existence of prosthesis, high frenal attachment, radiotherapy, systemic diseases and chemical trauma were not significantly associated with GR in the evaluated patients (P > 0.05). Conclusion Supra- and sub-gingival calculus, inadequate width and thickness of keratinized tissue, and incorrect tooth brushing techniques are most important etiologic factors of GR. Oral hygiene instructions including correct tooth brushing techniques as well as scaling and root planing with periodic recalls can play a significant role in prevention of GR. PMID:23230492

  12. A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.

    PubMed

    Miyake, Atsushi; Nishimura, Gen; Futami, Toru; Ohashi, Hirofumi; Chiba, Kazuhiro; Toyama, Yoshiaki; Furuichi, Tatsuya; Ikegawa, Shiro

    2008-01-01

    Diastrophic dysplasia sulfate transporter (DTDST) is required for synthesis of sulfated proteoglycans in cartilage, and its loss-of-function mutations result in recessively inherited chondrodysplasias. The 40 or so DTDST mutations reported to date cause a group of disorders termed the diastrophic dysplasia (DTD) group. The group ranges from the mildest recessive form of multiple epiphyseal dysplasia (r-MED) through the most common DTD to perinatally lethal atelosteogenesis type II and achondrogenesis 1B. Furthermore, the relationship between DTDST mutations, their sulfate transport function, and disease phenotypes has been described. Here we report a girl with DTDST mutations: a compound heterozygote of a novel p.T266I mutation and a recurrent p.DeltaV340 mutation commonly found in severe phenotypes of the DTD group. In infancy, the girl presented with skeletal manifestations reminiscent of Desbuquois dysplasia, another recessively inherited chondrodysplasia, the mutations of which have never been identified. Her phenotype evolved with age into an intermediate phenotype between r-MED and DTD. Considering her clinical phenotypes and known phenotypes of p.DeltaV340, p.T266I was predicted to be responsible for mild phenotypes of the DTD group. Our results further extend the phenotypic spectrum of DTDST mutations, adding Desbuquois dysplasia to the list of differential diagnosis of the DTD group. PMID:18553123

  13. Analysis of Repair Mechanisms following an Induced Double-Strand Break Uncovers Recessive Deleterious Alleles in the Candida albicans Diploid Genome

    PubMed Central

    Feri, Adeline; Loll-Krippleber, Raphaël; Commere, Pierre-Henri; Maufrais, Corinne; Sertour, Natacha; Schwartz, Katja; Sherlock, Gavin; Bougnoux, Marie-Elisabeth

    2016-01-01

    ABSTRACT The diploid genome of the yeast Candida albicans is highly plastic, exhibiting frequent loss-of-heterozygosity (LOH) events. To provide a deeper understanding of the mechanisms leading to LOH, we investigated the repair of a unique DNA double-strand break (DSB) in the laboratory C. albicans SC5314 strain using the I-SceI meganuclease. Upon I-SceI induction, we detected a strong increase in the frequency of LOH events at an I-SceI target locus positioned on chromosome 4 (Chr4), including events spreading from this locus to the proximal telomere. Characterization of the repair events by single nucleotide polymorphism (SNP) typing and whole-genome sequencing revealed a predominance of gene conversions, but we also observed mitotic crossover or break-induced replication events, as well as combinations of independent events. Importantly, progeny that had undergone homozygosis of part or all of Chr4 haplotype B (Chr4B) were inviable. Mining of genome sequencing data for 155 C. albicans isolates allowed the identification of a recessive lethal allele in the GPI16 gene on Chr4B unique to C. albicans strain SC5314 which is responsible for this inviability. Additional recessive lethal or deleterious alleles were identified in the genomes of strain SC5314 and two clinical isolates. Our results demonstrate that recessive lethal alleles in the genomes of C. albicans isolates prevent the occurrence of specific extended LOH events. While these and other recessive lethal and deleterious alleles are likely to accumulate in C. albicans due to clonal reproduction, their occurrence may in turn promote the maintenance of corresponding nondeleterious alleles and, consequently, heterozygosity in the C. albicans species. PMID:27729506

  14. Coat color genetics of Peromyscus: III. Golden-nugget--a recessive trait in the white-footed mouse, P. leucopus.

    PubMed

    Horner, B E; Dawson, W D

    1993-01-01

    A novel pelage color variant appeared in a laboratory colony of white-footed mice (Peromyscus leucopus) from Massachusetts. The mature adult coat color of this variant exhibits a rich golden tan appearance on the dorsum with white underparts. The trait is inherited as an autosomal recessive. Phenotypic comparisons with other rodents suggest that the trait is attributable to an allele at the brown (b) locus. Under laboratory conditions homozygous or heterozygous golden-nugget Peromyscus do not differ significantly from the wild type in litter size, litter survival, nest defense, or body weight. The possibility that the allele confers some adaptive value in nature is considered. The trait is given the tentative designation bgn (golden-nugget).

  15. Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.

    PubMed

    Kondo, Eri; Nishimura, Takafumi; Kosho, Tomoki; Inaba, Yuji; Mitsuhashi, Satomi; Ishida, Takefumi; Baba, Atsushi; Koike, Kenichi; Nishino, Ichizo; Nonaka, Ikuya; Furukawa, Toru; Saito, Kayoko

    2012-04-01

    Nemaline myopathy (NM) is a group of congenital myopathies, characterized by the presence of distinct rod-like inclusions "nemaline bodies" in the sarcoplasm of skeletal muscle fibers. To date, ACTA1, NEB, TPM3, TPM2, TNNT1, and CFL2 have been found to cause NM. We have identified recessive RYR1 mutations in a patient with severe congenital NM, through high-throughput screening of congenital myopathy/muscular dystrophy-related genes using massively parallel sequencing with target gene capture. The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia. Skeletal muscle histology demonstrated nemaline bodies and small type 1 fibers, but without central cores or minicores. Congenital myopathies, a molecularly, histopathologically, and clinically heterogeneous group of disorders are considered to be a good candidate for massively parallel sequencing. PMID:22407809

  16. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

    PubMed Central

    Garin, Intza; Edghill, Emma L.; Akerman, Ildem; Rubio-Cabezas, Oscar; Rica, Itxaso; Locke, Jonathan M.; Maestro, Miguel Angel; Alshaikh, Adnan; Bundak, Ruveyde; del Castillo, Gabriel; Deeb, Asma; Deiss, Dorothee; Fernandez, Juan M.; Godbole, Koumudi; Hussain, Khalid; O’Connell, Michele; Klupa, Thomasz; Kolouskova, Stanislava; Mohsin, Fauzia; Perlman, Kusiel; Sumnik, Zdenek; Rial, Jose M.; Ugarte, Estibaliz; Vasanthi, Thiruvengadam; Johnstone, Karen; Flanagan, Sarah E.; Martínez, Rosa; Castaño, Carlos; Patch, Ann-Marie; Fernández-Rebollo, Eduardo; Raile, Klemens; Morgan, Noel; Harries, Lorna W.; Castaño, Luis; Ellard, Sian; Ferrer, Jorge; de Nanclares, Guiomar Perez; Hattersley, Andrew T.

    2010-01-01

    Heterozygous coding mutations in the INS gene that encodes preproinsulin were recently shown to be an important cause of permanent neonatal diabetes. These dominantly acting mutations prevent normal folding of proinsulin, which leads to beta-cell death through endoplasmic reticulum stress and apoptosis. We now report 10 different recessive INS mutations in 15 probands with neonatal diabetes. Functional studies showed that recessive mutations resulted in diabetes because of decreased insulin biosynthesis through distinct mechanisms, including gene deletion, lack of the translation initiation signal, and altered mRNA stability because of the disruption of a polyadenylation signal. A subset of recessive mutations caused abnormal INS transcription, including the deletion of the C1 and E1 cis regulatory elements, or three different single base-pair substitutions in a CC dinucleotide sequence located between E1 and A1 elements. In keeping with an earlier and more severe beta-cell defect, patients with recessive INS mutations had a lower birth weight (−3.2 SD score vs. −2.0 SD score) and were diagnosed earlier (median 1 week vs. 10 weeks) compared to those with dominant INS mutations. Mutations in the insulin gene can therefore result in neonatal diabetes as a result of two contrasting pathogenic mechanisms. Moreover, the recessively inherited mutations provide a genetic demonstration of the essential role of multiple sequence elements that regulate the biosynthesis of insulin in man. PMID:20133622

  17. 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

  18. Understanding High Recession Rates of Carbon Ablators Seen in Shear Tests in an Arc Jet

    NASA Technical Reports Server (NTRS)

    Driver, David M.; Olson, Michael W.; Barnhardt, Michael D.; MacLean, Matthew

    2010-01-01

    High rates of recession in arc jet shear tests of Phenolic Impregnated Carbon Ablator (PICA) inspired a series of tests and analysis on FiberForm (a carbon preform used in the fabrication of PICA). Arc jet tests were performed on FiberForm in both air and pure nitrogen for stagnation and shear configurations. The nitrogen tests showed little or no recession, while the air tests of FiberForm showed recession rates similar to that of PICA (when adjusted for the difference in density). While mechanical erosion can not be ruled out, this is the first step in doing so. Analysis using a carbon oxidation boundary condition within DPLR was used to predict the recession rate of FiberForm. The analysis indicates that much of the anomalous recession behavior seen in shear tests may simply be an artifact of the non-flight like test configuration (copper upstream of the test article) a result of dissimilar enthalpy and oxygen concentration profiles on the copper. Shape change effects were also investigated and shown to be relatively small.

  19. The Role of Physical Education Lessons and Recesses in School Lifestyle of Adolescents

    PubMed Central

    Frömel, Karel; Svozil, Zbyněk; Chmelík, František; Jakubec, Lukáš; Groffik, Dorota

    2016-01-01

    BACKGROUND This study investigates school lifestyle among adolescents in terms of physical activity (PA) structure: (1) adolescents participating in a physical education lesson (PEL) versus (2) aggregate recess time exceeding 60 minutes. METHODS The research was conducted in 24 secondary schools in the Czech Republic (boys N = 208, girls N = 433). For the whole day (1-3 days) participants wore the ActiTrainer accelerometer, which monitored PA, and heart rate. A total of 1122 school days were recorded. RESULTS Both boys and girls participating in a PEL reported significantly better results compared with nonparticipating individuals regarding all indicators of volume and intensity of school PA (SPA). In most SPA indicators, longer aggregate recess time (>60 minutes) had a statistically significant effect, particularly on the volume of SPA. The recommended 500 steps/hours for SPA was achieved by 83% of boys participating in PEL and 69% of girls. In contrast just 32% of nonparticipating boys and 31% of girls reached this level. With longer recess time the recommendation was met by 43% of boys (42% of girls) compared with 26% of boys (23% of girls) with shorter recess time. CONCLUSIONS An increase in SPA and an improved lifestyle in adolescents on school days are significantly supported more by PELs than by longer recess time. PMID:26762826

  20. The Effect of Changes in Lower Incisor Inclination on Gingival Recession

    PubMed Central

    Kamak, Gulen; Kamak, Hasan; Keklik, Hakan; Gurel, Hakan Gurcan

    2015-01-01

    Aim. Orthodontic treatment may promote development of recessions. The mechanism by which orthodontic treatment influences occurrence of recessions remains unclear. The aim of this study was to test the hypothesis that a change of mandibular incisor inclination promotes development of labial gingival recessions. Materials and Methods. The study sample comprised dental casts and lateral cephalograms obtained from 109 subjects before orthodontic treatment (Tb) and after orthodontic treatment (Ta). Depending on the change of lower incisor inclination during treatment, the subjects were divided into three groups: Retroclination (R), Stable Position (S), and Proclination (P). The presence of gingival recessions of mandibular incisors and clinical crown heights were assessed on plaster models. Results and Conclusions. From Tb to Ta, Inc_Incl showed a statistically significant change in the R, P, and S groups (p < 0.05). Increase of clinical crown heights of the lower incisors (42, 4, and 31) was not statistically significant in any group. The only statistically significant intergroup difference was the greater increase of the clinical crown height of tooth number 32 in the P group in comparison with the R group (p = 0.049). The change of lower incisor inclination during treatment did not lead to development of labial gingival recessions in the study sample. PMID:25961071

  1. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

    PubMed

    Chakchouk, Imen; Grati, M'hamed; Bademci, Guney; Bensaid, Mariem; Ma, Qi; Chakroun, Amine; Foster, Joseph; Yan, Denise; Duman, Duygu; Diaz-Horta, Oscar; Ghorbel, Abdelmonem; Mittal, Rahul; Farooq, Amjad; Tekin, Mustafa; Masmoudi, Saber; Liu, Xue Zhong

    2015-08-01

    Hearing loss (HL) is a major public health issue. It is clinically and genetically heterogeneous.The identification of the causal mutation is important for early diagnosis, clinical follow-up, and genetic counseling. HL due to mutations in COL11A2, encoding collagen type XI alpha-2, can be non-syndromic autosomal-dominant or autosomal-recessive, and also syndromic as in Otospondylomegaepiphyseal Dysplasia, Stickler syndrome type III, and Weissenbacher-Zweymuller syndrome. However, thus far only one mutation co-segregating with autosomal recessive non-syndromic hearing loss (ARNSHL) in a single family has been reported. In this study, whole exome sequencing of two consanguineous families with ARNSHL from Tunisia and Turkey revealed two novel causative COL11A2 mutations, c.109G > T (p.Ala37Ser) and c.2662C > A (p.Pro888Thr). The variants identified co-segregated with deafness in both families. All homozygous individuals in those families had early onset profound hearing loss across all frequencies without syndromic findings. The variants are predicted to be damaging the protein function. The p.Pro888Thr mutation affects a -Gly-X-Y- triplet repeat motif. The novel p.Ala37Ser is the first missense mutation located in the NC4 domain of the COL11A2 protein. Structural model suggests that this mutation will likely obliterate, or at least partially compromise, the ability of NC4 domain to interact with its cognate ligands. In conclusion, we confirm that COL11A2 mutations cause ARNSHL and broaden the mutation spectrum that may shed new light on genotype-phenotype correlation for the associated phenotypes and clinical follow-up. PMID:25633957

  2. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

    PubMed Central

    Chakchouk, Imen; Grati, M’hamed; Bademci, Guney; Bensaid, Mariem; Ma, Qi; Chakroun, Amine; Foster, Joseph; Yan, Denise; Duman, Duygu; Diaz-Horta, Oscar; Ghorbel, Abdelmonem; Mittal, Rahul; Farooq, Amjad; Tekin, Mustafa

    2015-01-01

    Hearing loss (HL) is a major public health issue. It is clinically and genetically heterogeneous. The identification of the causal mutation is important for early diagnosis, clinical follow-up, and genetic counseling. HL due to mutations in COL11A2, encoding collagen type XI alpha-2, can be non-syndromic autosomal-dominant or autosomal-recessive, and also syndromic as in Otospondylomegaepiphyseal Dysplasia, Stickler syndrome type III, and Weissenbacher–Zweymuller syndrome. However, thus far only one mutation co-segregating with autosomal recessive non-syndromic hearing loss (ARNSHL) in a single family has been reported. In this study, whole exome sequencing of two consanguineous families with ARNSHL from Tunisia and Turkey revealed two novel causative COL11A2 mutations, c.109G > T (p.Ala37Ser) and c.2662C > A (p.Pro888Thr). The variants identified co-segregated with deafness in both families. All homozygous individuals in those families had early onset profound hearing loss across all frequencies without syndromic findings. The variants are predicted to be damaging the protein function. The p.Pro888Thr mutation affects a -Gly-X–Y- triplet repeat motif. The novel p.Ala37Ser is the first missense mutation located in the NC4 domain of the COL11A2 protein. Structural model suggests that this mutation will likely obliterate, or at least partially compromise, the ability of NC4 domain to interact with its cognate ligands. In conclusion, we confirm that COL11A2 mutations cause ARNSHL and broaden the mutation spectrum that may shed new light on genotype–phenotype correlation for the associated phenotypes and clinical follow-up. PMID:25633957

  3. Comparison of the clinical applicability of Miller's classification system to Kumar and Masamatti's classification system of gingival recession

    PubMed Central

    Kumar, Ashish; Gupta, Geeti; Puri, Komal; Bansal, Mansi; Jain, Deept; Khatri, Manish; Masamatti, Sujata Surendra

    2015-01-01

    Background: The aims of the present study were to (i) Find the percentage of recession cases that could be classified by application of Miller's and/or Kumar and Masamatti's classification of gingival recession, and (ii) compare the percentage of clinical applicability of Miller's criteria and Kumar and Masamatti's criteria to the total recessions present. Materials and Methods: A total of 104 patients (1089 recession cases) were included in the study wherein they were classified using both Miller's and Kumar and Masamatti's classification systems of gingival recession. Percentage comparison of the application of both classification systems was done. Results: Data analysis showed that though all the cases of the recession were classified by Kumar and Masamatti's classification, only 34.61% cases were classified by Miller's classification. 19.10% cases were completely (having only labial/buccal recession) classified. In 15.51% (out of 34.61%) cases, only buccal recession was classified according to Miller's criteria and included in this category, although these cases had both buccal and lingual/palatal recessions. Furthermore, 29.75% cases of recession with interdental loss and marginal tissue loss coronal to mucogingival junction (MGJ) remained uncategorized by Miller's classification; categorization of palatal/lingual recession was possible with Kumar and Masamatti's classification. Conclusion: The elaborative evaluation of both buccal and palatal/lingual recession by the Kumar and Masamatti's classification system can be used to overcome the limitations of Miller's classification system, especially the cases with interdental loss and having marginal tissue loss coronal to MGJ. PMID:26644724

  4. Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa

    PubMed Central

    Watt, Stephen A.; Dayal, Jasbani H. S.; Wright, Sheila; Riddle, Megan; Pourreyron, Celine; McMillan, James R.; Kimble, Roy M.; Prisco, Marco; Gartner, Ulrike; Warbrick, Emma; McLean, W. H. Irwin; Leigh, Irene M.; McGrath, John A.; Salas-Alanis, Julio C.; Tolar, Jakub; South, Andrew P.

    2015-01-01

    Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in COL7A1 resulting in reduced or absent type VII collagen, aberrant anchoring fibril formation and subsequent dermal-epidermal fragility. Here, we identify a significant decrease in PLOD3 expression and its encoded protein, the collagen modifying enzyme lysyl hydroxylase 3 (LH3), in RDEB. We show abundant LH3 localising to the basement membrane in normal skin which is severely depleted in RDEB patient skin. We demonstrate expression is in-part regulated by endogenous type VII collagen and that, in agreement with previous studies, even small reductions in LH3 expression lead to significantly less secreted LH3 protein. Exogenous type VII collagen did not alter LH3 expression in cultured RDEB keratinocytes and we show that RDEB patients receiving bone marrow transplantation who demonstrate significant increase in type VII collagen do not show increased levels of LH3 at the basement membrane. Our data report a direct link between LH3 and endogenous type VII collagen expression concluding that reduction of LH3 at the basement membrane in patients with RDEB will likely have significant implications for disease progression and therapeutic intervention. PMID:26380979

  5. Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22.

    PubMed

    Huang, Yu-Hsiu; Tai, Chang-Long; Lu, Yung-Hsiu; Wu, Tina Jui-Ting; Chen, Hong-Duo; Niu, Dau-Ming

    2012-08-15

    Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH-cytochrome b5 reductase (cb5r) deficiency. Two distinct clinical forms, types I and II, caused by cb5r deficiency have been recognized. In type I, the enzyme deficiency is restricted only to erythrocytes with cyanosis being the only major symptom. In contrast, in type II, the enzyme deficiency is generalized to all tissues and associated with neurological impairment, mental and growth retardation and reduced life expectancy, in addition to cyanosis. Recently, we conducted a study on an 11-year-old boy with cb5r deficiency type I. The mutational analysis of the CYB5R3 gene revealed that the boy is homozygous for L72P mutation. Surprisingly, his mother is heterozygous for this L72P mutant, but not his father. Thirteen microsatellite markers of chromosome 22 were selected to analyze the origins of the patient's chromosome 22. The result showed that both of the chromosome 22(s) of this patient came from the maternal side (uniparental heterodisomy of chromosome 22 with segmental isodisomy). This is the first case report of a patient with cb5r deficiency type I resulting from uniparental disomy and also discloses an alternate mechanism whereby this enzymatic disorder can be derived from a single parent. PMID:22658170

  6. The impact of the macroeconomy on health insurance coverage: evidence from the Great Recession.

    PubMed

    Cawley, John; Moriya, Asako S; Simon, Kosali

    2015-02-01

    This paper investigates the impact of the macroeconomy on the health insurance coverage of Americans using panel data from the Survey of Income and Program Participation for 2004-2010, a period that includes the Great Recession of 2007-2009. We find that a one percentage point increase in the state unemployment rate is associated with a 1.67 percentage point (2.12%) reduction in the probability that men have health insurance; this effect is strongest among college-educated, white, and older (50-64 years old) men. For women and children, health insurance coverage is not significantly correlated with the unemployment rate, which may be the result of public health insurance acting as a social safety net. Compared with the previous recession, the health insurance coverage of men is more sensitive to the unemployment rate, which may be due to the nature of the Great Recession.

  7. The impact of the macroeconomy on health insurance coverage: evidence from the Great Recession.

    PubMed

    Cawley, John; Moriya, Asako S; Simon, Kosali

    2015-02-01

    This paper investigates the impact of the macroeconomy on the health insurance coverage of Americans using panel data from the Survey of Income and Program Participation for 2004-2010, a period that includes the Great Recession of 2007-2009. We find that a one percentage point increase in the state unemployment rate is associated with a 1.67 percentage point (2.12%) reduction in the probability that men have health insurance; this effect is strongest among college-educated, white, and older (50-64 years old) men. For women and children, health insurance coverage is not significantly correlated with the unemployment rate, which may be the result of public health insurance acting as a social safety net. Compared with the previous recession, the health insurance coverage of men is more sensitive to the unemployment rate, which may be due to the nature of the Great Recession. PMID:24227184

  8. Operation and scalability of dopant-segregated Schottky barrier MOSFETs with recessed channels

    NASA Astrophysics Data System (ADS)

    Shih, Chun-Hsing; Hsia, Jui-Kai

    2013-11-01

    Recessed channels were used in scaled dopant-segregated Schottky barrier MOSFETs (DS-SBMOS) to control the severe short-channel effect. The physical operation and device scalability of the DS-SBMOS resulting from the presence of recessed channels and associated gate-corners are elucidated. The coupling of Schottky and gate-corner barriers has a key function in determining the on-off switching and drain current. The gate-corner barriers divide the channel into three regions for protection from the drain penetration field. To prevent resistive degradations in the drive current, an alternative asymmetric recessed channel (ARC) without a source-side gate-corner is proposed to simultaneously optimize both the short-channel effect and drive current in the scaled DS-SBMOS. By employing the proposed ARC architecture, the DS-SBMOS devices can be successfully scaled down, making them promising candidates for next-generation CMOS devices.

  9. The regeneration of gingiva: its potential value for the recession of healthy gingiva.

    PubMed

    Deng, Hui; Miao, Di; Liu, Juan; Meng, Shu; Wu, Yafei

    2010-01-01

    The partial withdrawal of healthy gingiva not only affects the appearance but also can bring about some complaints when the healthy gingiva is stimulated for some reasons. The junctional epithelium of gingiva moves to the root with aging, and compared with the tooth crown, the tooth root which has lower mineral content is prone to decay. Thus, gingival recession could lead to the root surface decay and make the tooth sensitive. Gingival recession is not reversible. Once the healthy gingiva shrinked, the teeth could feel uncomfortable, food impaction appeared and the original restorations have to be dismantled with new restorations on account of the exposure of coronal edges. Then the regeneration of gingiva is important. In this article, a hypothesis is proposed that free gingiva could get back to the former non-recessive location through guiding the healthy junctional epithelium to propagate along the crowns. Then the gingiva not only restores the beautiful outlook but also returns the natural barrier function.

  10. Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.

    PubMed

    O'Grady, Gina L; Best, Heather A; Oates, Emily C; Kaur, Simranpreet; Charlton, Amanda; Brammah, Susan; Punetha, Jaya; Kesari, Akanchha; North, Kathryn N; Ilkovski, Biljana; Hoffman, Eric P; Clarke, Nigel F

    2015-06-01

    Variants in ACTA1, which encodes α-skeletal actin, cause several congenital myopathies, most commonly nemaline myopathy. Autosomal recessive variants comprise approximately 10% of ACTA1 myopathy. All recessive variants reported to date have resulted in loss of skeletal α-actin expression from muscle and severe weakness from birth. Targeted next-generation sequencing in two brothers with congenital muscular dystrophy with rigid spine revealed homozygous missense variants in ACTA1. Skeletal α-actin expression was preserved in these patients. This report expands the clinical and histological phenotype of ACTA1 disease to include congenital muscular dystrophy with rigid spine and dystrophic features on muscle biopsy. This represents a new class of recessive ACTA1 variants, which do not abolish protein expression. PMID:25182138

  11. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

    SciTech Connect

    Lander, E.S.; Botstein, D.

    1987-06-19

    An efficient strategy for mapping human genes that cause recessive traits has been devised that uses mapped restriction fragment length polymorphisms (RFLPs) and the DNA of affected children from consanguineous marriages. The method involves detection of the disease locus by virtue of the fact that the adjacent region will preferentially be homozygous by descent in such inbred children. A single affected child of a first-cousin marriage is shown to contain the same total information about linkage as a nuclear family with three affected children. Calculations show that it should be practical to map a recessive disease gene by studying DNA from fewer than a dozen unrelated, affected inbred children, given a complete RFLP linkage map. The method should make it possible to map many recessive diseases for which it is impractical or impossible to collect adequate numbers of families with multiple affected offspring.

  12. Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21

    SciTech Connect

    Shugart, Yin Y.; Banerjee, P.; Knowles, J.A.

    1995-08-01

    The inherited retinal degenerations known as retinitis pigmentosa (RP) can be caused by mutations at many different loci and can be inherited as an autosomal recessive, autosomal dominant, or X-linked recessive trait. Two forms of autosomal recessive (arRP) have been reported to cosegregate with mutations in the rhodopsin gene and the beta-subunit of rod phosphodiesterase on chromosome 4p. Genetic linkage has been reported on chromosomes 6p and 1q. In a large Dominican family, we reported an arRp gene near the region of the peripherin/RDS gene. Four recombinations were detected between the disease locus and an intragenic marker derived from peripherin/RDS. 26 refs., 2 figs., 1 tab.

  13. 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.

  14. Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

    PubMed Central

    Mendoza-Londono, Roberto; Fahiminiya, Somayyeh; Majewski, Jacek; Tétreault, Martine; Nadaf, Javad; Kannu, Peter; Sochett, Etienne; Howard, Andrew; Stimec, Jennifer; Dupuis, Lucie; Roschger, Paul; Klaushofer, Klaus; Palomo, Telma; Ouellet, Jean; Al-Jallad, Hadil; Mort, John S.; Moffatt, Pierre; Boudko, Sergei; Bächinger, Hans-Peter; Rauch, Frank

    2015-01-01

    Secreted protein, acidic, cysteine-rich (SPARC) is a glycoprotein that binds to collagen type I and other proteins in the extracellular matrix. Using whole-exome sequencing to identify the molecular defect in two unrelated girls with severe bone fragility and a clinical diagnosis of osteogenesis imperfecta type IV, we identified two homozygous variants in SPARC (GenBank: NM_003118.3; c.497G>A [p.Arg166His] in individual 1; c.787G>A [p.Glu263Lys] in individual 2). Published modeling and site-directed mutagenesis studies had previously shown that the residues substituted by these mutations form an intramolecular salt bridge in SPARC and are essential for the binding of SPARC to collagen type I. The amount of SPARC secreted by skin fibroblasts was reduced in individual 1 but appeared normal in individual 2. The migration of collagen type I alpha chains produced by these fibroblasts was mildly delayed on SDS-PAGE gel, suggesting some overmodification of collagen during triple helical formation. Pulse-chase experiments showed that collagen type I secretion was mildly delayed in skin fibroblasts from both individuals. Analysis of an iliac bone sample from individual 2 showed that trabecular bone was hypermineralized on the material level. In conclusion, these observations show that homozygous mutations in SPARC can give rise to severe bone fragility in humans. PMID:26027498

  15. Economic recession and migrant/minority youth in Western Europe and the United States.

    PubMed

    Limage, L J

    1987-12-01

    This paper considers the educational opportunities and employment futures of the children of migrants and minorities in Western Europe and the US beyond the lowest-paid and lowest-valued jobs currently held by their parents. Given that the economic recession has aggravated unemployment in the countries of origin of workers migrating to both Northern Europe and the US, it seems likely that workers will still want to go abroad. On the other hand, these workers in both regions have been concentrated in a highly segmented labor market in which they have little opportunity for professional advancement. A thriving black market for illegal workers also exists both for the US and for Northern Europe. Since this labor market structure shows no signs of fundamental change through natural or policy-directed means, it appears unlikely that migrants' children can expect any significant enhancement of their professional prospects. An alternative educational strategy might involve public commitment to provide effective education, training, and subsidized employment for all young people. Some type of allowance would be guaranteed to all young people engaging in further education and training schemes. Since the state is responsible for free elementary and secondary education, there may be a convincing argument that public responsibility extends to providing free further education and access to employment as well, as part of a forward-looking strategy for overcoming youth unemployment. Obviously, the current conservative climate across industrial nations is more inclined to blame the sloth of the victim who is unemployed. It is a legitimate question, however, as to how far a society can allow itself to widen the gap between rich and poor before it is obligated to change things.

  16. UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia

    PubMed Central

    Yu, Li; Zhang, Gehan; Li, Jia; Lin, Yunting; Guo, Jifeng; Wang, Junling; Shen, Lu; Jiang, Hong; Wang, Guanghui; Tang, Beisha

    2016-01-01

    Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. For many affected patients, the genetic cause remains undetermined. Through whole-exome sequencing, we identified compound heterozygous mutations in ubiquitin-like modifier activating enzyme 5 gene (UBA5) in two Chinese siblings presenting with ARCA. Moreover, copy number variations in UBA5 or ubiquitin-fold modifier 1 gene (UFM1) were documented with the phenotypes of global developmental delays and gait disturbances in the ClinVar database. UBA5 encodes UBA5, the ubiquitin-activating enzyme of UFM1. However, a crucial role for UBA5 in human neurological disease remains to be reported. Our molecular study of UBA5-R246X revealed a dramatically decreased half-life and loss of UFM1 activation due to the absence of the catalytic cysteine Cys250. UBA5-K310E maintained its interaction with UFM1, although with less stability, which may affect the ability of this UBA5 mutant to activate UFM1. Drosophila modeling revealed that UBA5 knockdown induced locomotive defects and a shortened lifespan accompanied by aberrant neuromuscular junctions (NMJs). Strikingly, we found that UFM1 and E2 cofactor knockdown induced markedly similar phenotypes. Wild-type UBA5, but not mutant UBA5, significantly restored neural lesions caused by the absence of UBA5. The finding of a UBA5 mutation in cerebellar ataxia suggests that impairment of the UFM1 pathway may contribute to the neurological phenotypes of ARCA. PMID:26872069

  17. SiC Recession Due to SiO2 Scale Volatility Under Combustor Conditions

    NASA Technical Reports Server (NTRS)

    Robinson, Raymond Craig

    1997-01-01

    One of today's most important and challenging technological problems is the development of advanced materials and processes required to design and build a fleet of supersonic High Speed Civil Transport (HSCT) airliners, a follow-up to the Concorde SST. The innovative combustor designs required for HSCT engines will need high-temperature materials with long-term environmental stability. Higher combustor liner temperatures than today's engines and the need for lightweight materials will require the use of advanced ceramic-matrix composites (CMC's) in hot-section components. The HSCT is just one example being used to demonstrate the need for such materials. This thesis evaluates silicon carbide (SiC) as a potential base material for HSCT and other similar applications. Key issues are the environmental durability for the materials of interest. One of the leading combustor design schemes leads to an environment which will contain both oxidizing and reducing gas mixtures. The concern is that these environments may affect the stability of the silica (SiO2) scale on which SiC depends for environmental protection. A unique High Pressure Burner Rig (HPBR) was developed to simulate the combustor conditions of future gas turbine engines, and a series of tests were conducted on commercially available SiC material. These tests are intended as a feasibility study for the use of these materials in applications such as the HSCT. Linear weight loss and surface recession of the SiC is observed as a result of SiO2 volatility for both fuel-lean and fuel-rich gas mixtures. These observations are compared and agree well with thermogravimetric analysis (TGA) experiments. A strong Arrhenius-type temperature dependence exists. In addition, the secondary dependencies of pressure and gas velocity are defined. As a result, a model is developed to enable extrapolation to points outside the experimental space of the burner rig, and in particular, to potential gas turbine engine conditions.

  18. Medial Rectus Recession Is as Effective as Lateral Rectus Resection in Divergence Paralysis Esotropia

    PubMed Central

    Chaudhuri, Zia; Demer, Joseph L.

    2013-01-01

    Objective To propose medial rectus (MR) recession to be equally as effective as lateral rectus (LR) resection, which has heretofore been the preferred treatment for divergence paralysis esotropia (DPE). Methods We examined a 17-year surgical experience comparing LR resection with MR recession in adults with DPE, defined as symptomatic distance esotropia (ET) at least double the asymptomatic ET of 10 or less prism diopters (Δ) at near. Results Twenty-four patients with DPE underwent surgery. Six patients underwent bilateral LR resection and 2 underwent unilateral LR resection (group L), while 13 underwent bilateral MR recession and 3 underwent unilateral MR recession, with the target angle double the distance ET (group M). One of 8 patients in group L and 15 of 16 patients in group M underwent intraoperative adjustable surgery under topical anesthesia. Mean (SD) preoperative central gaze ET measured 15.0 (7.7) Δ at distance and 4.1 (3.4) Δ at near in group L, but 10.4 (6.8) Δ at distance and 0.6 (1.7) Δ at near in group M (P=.15; distance, 0.003, near). Postoperatively, no patient in either group had symptomatic diplopia or convergence insufficiency in follow-up from 8.5 to 40 months. Twice the usual surgical dose of MR recession per prism diopter was required to achieve correction of the distance deviation in DPE as compared with that recommended for ET generally and also for LR resection in the same condition. Conclusions Recession of the MR provides binocular single vision in DPE without convergence insufficiency at near, and it is convenient for intraoperative adjustment under topical anesthesia. PMID:22688183

  19. Gingival abrasion and recession in manual and oscillating–rotating power brush users

    PubMed Central

    Rosema, NAM; Adam, R; Grender, JM; Van der Sluijs, E; Supranoto, SC; Van der Weijden, GA

    2014-01-01

    Objective To assess gingival recession (GR) in manual and power toothbrush users and evaluate the relationship between GR and gingival abrasion scores (GA). Methods This was an observational (cross-sectional), single-centre, examiner-blind study involving a single-brushing exercise, with 181 young adult participants: 90 manual brush users and 91 oscillating–rotating power brush users. Participants were assessed for GR and GA as primary response variables. Secondary response variables were the level of gingival inflammation, plaque score reduction and brushing duration. Pearson correlation was used to describe the relationship between number of recession sites and number of abrasions. Prebrushing (baseline) and post-brushing GA and plaque scores were assessed and differences analysed using paired tests. Two-sample t-test was used to analyse group differences; ancova was used for analyses of post-brushing changes with baseline as covariate. Results Overall, 97.8% of the study population had at least one site of ≥1 mm of gingival recession. For the manual group, this percentage was 98.9%, and for the power group, this percentage was 96.7% (P = 0.621). Post-brushing, the power group showed a significantly smaller GA increase than the manual group (P = 0.004); however, there was no significant correlation between number of recession sites and number of abrasions for either group (P ≥ 0.327). Conclusions Little gingival recession was observed in either toothbrush user group; the observed GR levels were comparable. Lower post-brushing gingival abrasion levels were seen in the power group. There was no correlation between gingival abrasion as a result of brushing and the observed gingival recession following use of either toothbrush. PMID:24871587

  20. [Recession of the inferior rectus muscle in superficial anesthesia in the treatment of thyroid orbitopathy].

    PubMed

    Koniszewski, G; Zagórski, Z

    1989-06-01

    Recession of the inferior rectus in surface anaesthesia by 5% cocaine drops was performed in 8 patients with signs of hypotropia in the course of thyroid orbitopathia and with diplopia persisting after conservatory treatment and not corrected by prisms. This method enables us an accurate intraoperative settlement of the distance of recession and it may be recommended in cases metabolically normalized, with not too much advanced exophthalmos, with a stability of the motor disturbances for at least 6 months and without any signs of inflammation.

  1. Recession Curve Generation for the Space Shuttle Solid Rocket Booster Thermal Protection System Coatings

    NASA Technical Reports Server (NTRS)

    Kanner, Howard S.; Stuckey, C. Irvin; Davis, Darrell W.; Davis, Darrell (Technical Monitor)

    2002-01-01

    Ablatable Thermal Protection System (TPS) coatings are used on the Space Shuttle Vehicle Solid Rocket Boosters in order to protect the aluminum structure from experiencing excessive temperatures. The methodology used to characterize the recession of such materials is outlined. Details of the tests, including the facility, test articles and test article processing are also presented. The recession rates are collapsed into an empirical power-law relation. A design curve is defined using a 95-percentile student-t distribution. based on the nominal results. Actual test results are presented for the current acreage TPS material used.

  2. Orofacial Manifestations of Autosomal Recessive Robinow's Syndrome: A Rare Case Report.

    PubMed

    Mali, Santosh; Bansal, Neha; Dhokar, Amol; Yadav, Monica

    2016-03-01

    Robinow's syndrome is a very rare genetic disorder which bears a resemblance to a foetal face. It is characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. It has a genetic heterogeneity with autosomal dominant and recessive forms which relates to the severity of phenotype presentation. A rare case of an autosomal recessive form of Robinow's syndrome is presented with emphasis on, characteristic craniofacial and intraoral manifestations to aid in diagnosis and dental management of this patient. PMID:27135013

  3. Double recessed AlInAs/GaInAs/InP HEMTs with high breakdown voltages

    SciTech Connect

    Hur, K.Y.; McTaggart, R.A.; LeBlanc, B.W.

    1995-12-31

    A double recessed T-gate process has been successfully utilized to increase gate-to-drain breakdown voltages of double pulse doped AlInAs/GaInAs/InP HEMTs. By varying lateral channel dimensions, breakdown voltages in the range 11-19 V can be tailored with maximum channel currents in the range 450-600 mA/mm. This combination of high breakdown voltages and high channel currents indicate that the double recess process is a promising approach for high power applications.

  4. Trends in A8 migration to the UK during the recession.

    PubMed

    McCollum, David; Findlay, Allan

    2011-01-01

    A substantial proportion of contemporary migration flows to the UK are made by nationals from countries which have recently joined the EU. The nature of A8 migration during the recession is examined in this paper, mainly using data from the Worker Registration Scheme. The recession has seen a decline in new A8 migrants entering the UK labour market, but the decline has been sectorally uneven, with demand for migrant labour being most persistent in the agricultural sector, raising questions about why this part of the UK economy is so different.

  5. Cartilage matrix deficiency (cmd): a new autosomal recessive lethal mutation in the mouse.

    PubMed

    Rittenhouse, E; Dunn, L C; Cookingham, J; Calo, C; Spiegelman, M; Dooher, G B; Bennett, D

    1978-02-01

    A new autosomal recessive lethal mutation in the mouse designated cartilage matrix deficiency (cmd) is described. Homozygotes are dwarfed, and have abnormally short trunk, limbs, tail and snout, as well as a protruding tongue and cleft palate. The abdomen is distended because the foreshortened rib cage and spinal column forces the liver ventrad from its normal location. Histological and electron microscopic study reveals a deficiency of cartilage matrix in tracheal cartilage and in all cartilagenous bones examined. The syndrome closely resembles the rare lethal condition achondrogenesis, found in human infants, which is also believed to be due to an autosomal recessive gene. PMID:632744

  6. Orthodontic-associated localized gingival recession of lower incisors: who should treat it?

    PubMed

    Chaushu, Stella; Stabholz, Ayala

    2013-07-01

    Gingival recession of lower incisors in the young population has become more prevalent in association with the increased uptake of orthodontic treatment. The two main predisposing factors are thin gingival biotype and bone dehiscence caused by labially displaced roots. Management is sometimes challenging, and the achievement of a successful result requires close cooperation between the orthodontist and periodontist. This article proposes a decision tree, which includes both orthodontic and periodontal considerations, to help the clinician in making the correct diagnosis and choosing the most suitable treatment in post-orthodontic gingival recessions. PMID:24568245

  7. Orofacial Manifestations of Autosomal Recessive Robinow’s Syndrome: A Rare Case Report

    PubMed Central

    Mali, Santosh; Dhokar, Amol; Yadav, Monica

    2016-01-01

    Robinow’s syndrome is a very rare genetic disorder which bears a resemblance to a foetal face. It is characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. It has a genetic heterogeneity with autosomal dominant and recessive forms which relates to the severity of phenotype presentation. A rare case of an autosomal recessive form of Robinow’s syndrome is presented with emphasis on, characteristic craniofacial and intraoral manifestations to aid in diagnosis and dental management of this patient. PMID:27135013

  8. Non-Recessive Bt Toxin Resistance Conferred by an Intracellular Cadherin Mutation in Field-Selected Populations of Cotton Bollworm

    PubMed Central

    Zhang, Haonan; Wu, Shuwen; Yang, Yihua; Tabashnik, Bruce E.; Wu, Yidong

    2012-01-01

    Transgenic crops producing Bacillus thuringiensis (Bt) toxins have been planted widely to control insect pests, yet evolution of resistance by the pests can reduce the benefits of this approach. Recessive mutations in the extracellular domain of toxin-binding cadherin proteins that confer resistance to Bt toxin Cry1Ac by disrupting toxin binding have been reported previously in three major lepidopteran pests, including the cotton bollworm, Helicoverpa armigera. Here we report a novel allele from cotton bollworm with a deletion in the intracellular domain of cadherin that is genetically linked with non-recessive resistance to Cry1Ac. We discovered this allele in each of three field-selected populations we screened from northern China where Bt cotton producing Cry1Ac has been grown intensively. We expressed four types of cadherin alleles in heterologous cell cultures: susceptible, resistant with the intracellular domain mutation, and two complementary chimeric alleles with and without the mutation. Cells transfected with each of the four cadherin alleles bound Cry1Ac and were killed by Cry1Ac. However, relative to cells transfected with either the susceptible allele or the chimeric allele lacking the intracellular domain mutation, cells transfected with the resistant allele or the chimeric allele containing the intracellular domain mutation were less susceptible to Cry1Ac. These results suggest that the intracellular domain of cadherin is involved in post-binding events that affect toxicity of Cry1Ac. This evidence is consistent with the vital role of the intracellular region of cadherin proposed by the cell signaling model of the mode of action of Bt toxins. Considered together with previously reported data, the results suggest that both pore formation and cell signaling pathways contribute to the efficacy of Bt toxins. PMID:23285292

  9. Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12

    SciTech Connect

    Muecher, G.; Wirth, B.; Zerres, K.

    1994-12-01

    Autosomal recessive polycystic kidney disease (ARPKD) is one of the most important hereditary nephropathies in childhood. The reported incidence is 1:6,000 - 1:40,000 live births. We recently mapped the gene for ARPKD to chromosome 6p21-cen by linkage analysis. In a more extensive study, we analyzed two additional microsatellite markers of the region 6p21 in 12 multiplex and 4 simplex ARPKD families, which have previously been published by Zerres et al. (1994). Because of additional typing, more families have become informative for single markers. 12 refs., 2 figs., 2 tabs.

  10. Playing Fair: The Contribution of High-Functioning Recess to Overall School Climate in Low-Income Elementary Schools

    ERIC Educational Resources Information Center

    London, Rebecca A.; Westrich, Lisa; Stokes-Guinan, Katie; McLaughlin, Milbrey

    2015-01-01

    Background: Recess is a part of the elementary school day with strong implications for school climate. Positive school climate has been linked to a host of favorable student outcomes, from attendance to achievement. We examine 6 low-income elementary schools' experiences implementing a recess-based program designed to provide safe, healthy,…

  11. Recess, Playground Games, and the Aims of School: An Investigation into the Semiotic Affordances of Four Square

    ERIC Educational Resources Information Center

    Marple, Stacy Ann

    2011-01-01

    In recent times, recess has become threatened by the press for more academic instruction time and by fears of violent behavior. A dramatic indicator of this trend is seen in the increasing number of schools and school districts which have done away with or significantly reduced recess time (BBC news, 2007; Coughlan, 2007; Jarrett, 2002; Pressler,…

  12. Activity Levels during Physical Education and Recess in Two Special Schools for Children with Mild Intellectual Disabilities

    ERIC Educational Resources Information Center

    Sit, Cindy H. P.; McKenzie, Thomas L.; Lian, John M. G.; McManus, Alison

    2008-01-01

    This study compared physical education (PE) and recess in two markedly different special schools for children with mild intellectual disabilities; one school had a reputation for focusing on sports (High Sport Focus-HSF) and the other did not (Low Sport Focus-LSF). Data were collected in 24 PE classes and 48 recess periods using a validated…

  13. Recess for Elementary School Students. A Position Paper from the National Association for Sport and Physical Education

    ERIC Educational Resources Information Center

    American Alliance for Health, Physical Education, Recreation and Dance (NJ1), 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. Various cited organizations support school recess as an integral component of a child's physical, social, and academic development,…

  14. Physical Activity Levels in Normal Weight and Overweight Portuguese Children: An Intervention Study during an Elementary School Recess

    ERIC Educational Resources Information Center

    Lopes, Luis; Lopes, Vitor; Pereira, Beatriz

    2009-01-01

    This study aimed to analyze the effects of an intervention strategy during the school recess on physical activity (PA) levels, by gender, age and body mass index (BMI). The sample comprises 158 Portuguese children aged 6 to 12 years. Weight and height were objectively measured. PA was assessed by accelerometry during the recess in pre-intervention…

  15. Campus Counseling Centers React to Recession-Related Stress among Students

    ERIC Educational Resources Information Center

    Bushong, Steven

    2009-01-01

    The recession has complicated the path in life that many students had envisioned. As a result, campus mental-health counselors say more students are expressing anxiety about the economy's effect on their future. Visits to campus counseling centers have been climbing for several years, according to the Association for University and College…

  16. The Class of 2010: Economic Prospects for Young Adults in the Recession. EPI Briefing Paper #265

    ERIC Educational Resources Information Center

    Bivens, Josh; Edwards, Kathryn Anne; Hertel-Fernandez, Alexander; Turner, Anna

    2010-01-01

    It will take years for the labor market to recover from the damage induced by the recent recession. While monthly job losses almost surely peaked in 2009, the unemployment rate will likely peak in 2010 (CBO 2010a). In April, the unemployment rate reached 9.9% and the overall economic cause is simple: firms are not hiring quickly enough, as…

  17. Recession Tempers the Usual Optimism in College Fund-Raising Offices

    ERIC Educational Resources Information Center

    Masterson, Kathryn

    2009-01-01

    After years of growth and predictions that fund raising for higher education would escape the brunt of the economic crash, the recession has started to affect colleges' efforts to raise money, according to a survey by "The Chronicle" and Moody's Investors Service. Predictions are that 2009 may be an even tougher year for fund raisers, with…

  18. Progeria (Hutchison-Gilford syndrome) in siblings: in an autosomal recessive pattern of inheritance.

    PubMed

    Raghu, T Y; Venkatesulu, G A; Kantharaj, G R; Suresh, T; Veeresh, V; Hanumanthappa, Y

    2001-01-01

    Progeria is an autosomal dominant, premature aging syndrome. Six and three year old female siblings had sclerodermatous changes over the extremities, alopecia, beaked nose, prominent veins and bird-like facies. Radiological features were consistent with features of progeria. The present case highlights rarity of progeria in siblings with a possible autosomal recessive pattern.

  19. Increasing Engagement of Students with Autism at Recess through Structured Work Systems

    ERIC Educational Resources Information Center

    O'Hara, Meghan; Hall, Laura J.

    2014-01-01

    Students with autism spectrum disorder (ASD) who attend public schools benefit from supplementary structure throughout their day, including during recess periods on the playground. The following study used a concurrent multiple-baseline design to evaluate the effects of a structured work system taught by the special education teacher using…

  20. Evaluating the Recession's Impact on State School Finance Systems

    ERIC Educational Resources Information Center

    Baker, Bruce D.

    2014-01-01

    The Great Recession's effect on state school finance systems was unlike previous downturns in the early 1990s and early 2000s in that it: a) involved a greater loss of taxable income in many states, thus greater loss to state general fund revenues, b) also involved a substantial collapse of housing markets and related reduction or at least…

  1. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

    PubMed Central

    Giannotti, A; Digilio, M C; Mingarelli, R; Dallapiccola, B

    1995-01-01

    We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome. Images PMID:7897634

  2. When a Fly Has to Fly to Reproduce: Selection against Conditional Recessive Lethals in "Drosophila"

    ERIC Educational Resources Information Center

    Plunkett, Andrea D.; Yampolsky, Lev Y.

    2010-01-01

    We propose an experimental model suitable for demonstrating allele frequency change in Drosophila melanogaster populations caused by selection against an easily scorable conditional lethal, namely recessive flightless alleles such as apterous and vestigial. Homozygotes for these alleles are excluded from reproduction because the food source used…

  3. 40 CFR 798.5275 - Sex-linked recessive lethal test in drosophila melanogaster.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... recommendations as specified under 40 CFR part 792, subpart J the following specific information shall be reported... drosophila melanogaster. 798.5275 Section 798.5275 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY....5275 Sex-linked recessive lethal test in drosophila melanogaster. (a) Purpose. The sex-linked...

  4. 40 CFR 798.5275 - Sex-linked recessive lethal test in drosophila melanogaster.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... recommendations as specified under 40 CFR part 792, subpart J the following specific information shall be reported... drosophila melanogaster. 798.5275 Section 798.5275 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY....5275 Sex-linked recessive lethal test in drosophila melanogaster. (a) Purpose. The sex-linked...

  5. 40 CFR 798.5275 - Sex-linked recessive lethal test in drosophila melanogaster.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... recommendations as specified under 40 CFR part 792, subpart J the following specific information shall be reported... drosophila melanogaster. 798.5275 Section 798.5275 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY....5275 Sex-linked recessive lethal test in drosophila melanogaster. (a) Purpose. The sex-linked...

  6. Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.

    PubMed

    Depondt, Chantal; Donatello, Simona; Simonis, Nicolas; Rai, Myriam; van Heurck, Roxane; Abramowicz, Marc; D'Hooghe, Marc; Pandolfo, Massimo

    2014-05-13

    Autosomal recessive ataxias affect about 1 person in 20,000. Friedreich ataxia accounts for one-third of the cases in Caucasians; the others are due to a growing list of very rare molecular defects, including mild forms of metabolic diseases. In nearly 50%, the genetic cause remains undetermined.

  7. Recession on Top of Energy Crisis May Mean Power Boost for Universities

    ERIC Educational Resources Information Center

    Basken, Paul

    2009-01-01

    For many Americans, the confluence of a recession and a growing realization that the nation needs to end its reliance on fossil fuels seems like a double dose of bad news. But for the nation's research universities, it may be an opportunity. A Brookings Institution, a policy-study group with ties to the Democratic leaders now controlling the White…

  8. Semilunar vestibular technique: A novel procedure for multiple recession coverage (a report of two cases).

    PubMed

    Pandit, Nymphea; Pandit, Inder Kumar; Bali, Deepika; Jindal, Shaifi

    2015-01-01

    The procedures for root coverage have been greatly refined over the past few decades. Still as compared to the other periodontal surgical procedures, predictability of mucogingival procedures remains uncertain which is more in patients who present with multiple recessions or recession complicated with periodontal involvement. Techniques which claim success almost always involve a second surgical site. A novel technique avoiding second surgical site and good predictability for multiple recessions was described by Dr. P.D. Miller in a conference at Pune in 2011. A semilunar vestibular incision technique described by Dr. P.D Miller was performed on two patients who presented with multiple recessions in the maxillary anterior teeth. About 90-100% root coverage was observed when the patients were on a follow-up for 1-year with a significant increase in the vestibular depth. The semilunar vestibular incision technique used in two cases resulted in predictable root coverage with a good color blend, an esthetic marginal morphology and most importantly the avoidance of the second surgical site. PMID:26941524

  9. Real-Time Inhibitor Recession Measurements in the Space Shuttle Reusable Solid Rocket Motors

    NASA Technical Reports Server (NTRS)

    McWhorter, Bruce B.; Ewing, Mark E.; McCool, Alex (Technical Monitor)

    2001-01-01

    Real-time char line recession measurements were made on propellant inhibitors of the Space Shuttle Reusable Solid Rocket Motor (RSRM). The RSRM FSM-8 static test motor propellant inhibitors (composed of a rubber insulation material) were successfully instrumented with eroding potentiometers and thermocouples. The data was used to establish inhibitor recession versus time relationships. Normally, pre-fire and post-fire insulation thickness measurements establish the thermal performance of an ablating insulation material. However, post-fire inhibitor decomposition and recession measurements are complicated by the fact that most of the inhibitor is back during motor operation. It is therefore a difficult task to evaluate the thermal protection offered by the inhibitor material. Real-time measurements would help this task. The instrumentation program for this static test motor marks the first time that real-time inhibitors. This report presents that data for the center and aft field joint forward facing inhibitors. The data was primarily used to measure char line recession of the forward face of the inhibitors which provides inhibitor thickness reduction versus time data. The data was also used to estimate the inhibitor height versus time relationship during motor operation.

  10. Five Recession-Driven Strategies for Planning and Managing Campus Facilities

    ERIC Educational Resources Information Center

    Rudden, Michael S.

    2010-01-01

    Colleges and universities continue to face significant fiscal challenges in the current recession. A review of ongoing campus facilities planning projects, coupled with a review of more than 30 recent campus master planning requests for proposals and the relevant literature, indicates that colleges and universities are finding innovative ways to…

  11. Piloting through the Recession: Continuing Higher Education in Europe and the United Kingdom

    ERIC Educational Resources Information Center

    Roffe, Ian

    2009-01-01

    In common with the United States, Europe is currently experiencing a serious economic recession. The crisis, which started in the financial sector, is now rippling out and affecting heavily other economic sectors: construction, property, retailing, manufacturing, etc. The arguable cause of the crisis was a failure of management in financial…

  12. Exterior building details of Building A; east façade: recessed panel ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    Exterior building details of Building A; east façade: recessed panel inscribed "1859", historic window opening with concrete sill above door, cement plaster dentil course and cornice, truncated wood beam ends, plaster finished brick wall, granite base; westerly view - San Quentin State Prison, Building 22, Point San Quentin, San Quentin, Marin County, CA

  13. The Effect of Economic Recession on Institutional Support for Tenure-Track Librarians in ARL Institutions

    ERIC Educational Resources Information Center

    Blessinger, Kelly; Costello, Gina

    2011-01-01

    The objective of this study was to reveal how the national economic recession has affected the nature and extent of support for tenure track librarians at Association of Research Libraries (ARL) member institutions. The authors surveyed 43 ARL Deans and University Librarians to discover the criteria for achieving tenure and the current…

  14. Changes in Wives' Employment when Husbands Stop Working: A Recession-Prosperity Comparison

    ERIC Educational Resources Information Center

    Mattingly, Marybeth J.; Smith, Kristin E.

    2010-01-01

    American families are experiencing the effects of the "Great Recession." Most of the job losses are accruing to men, so families may find it strategic for wives to enter the labor force, or increase their work hours. We consider this possibility using the May 2008 and 2009 Current Population Survey, and compare findings to May 2004 and 2005 data,…

  15. Recess Activities of the Week (RAW): Promoting Free Time Physical Activity to Combat Childhood Obesity

    ERIC Educational Resources Information Center

    Sinclair, Christina D.; Stellino, Megan Babkes; Partidge, Julie A.

    2008-01-01

    Childhood obesity and inactivity levels among young Americans have risen steadily over the last few decades, and has become a major concern. Participation in regular physical activity helps prevent excess adiposity in children and youth. Recess is a regularly occurring period of time in school children's days which is an opportunity to help them…

  16. Citizen Support for Northern Ohio Community College Funding Initiatives during an Economic Recession Recovery

    ERIC Educational Resources Information Center

    Flores, Patricia

    2013-01-01

    The current research, "Citizen Support for Northern Ohio Community College Funding Initiatives during an Economic Recession Recovery", asks the question: Do the citizens of Northern Ohio support community college funding during difficult economic times? Based on the theory of Stakeholder Analysis, the purpose of this concurrent,…

  17. A Quantitative Analysis of Recessions and Financial Changes in Higher Education Institution Alumni Programs

    ERIC Educational Resources Information Center

    Dos Santos, Alves

    2013-01-01

    The study examined the relationship between recession and alumni contributions to institutions of higher education for operational expenses and capital expenditures that include property, buildings, and equipment. Identifying variables that may decrease alumni contributions is important because decreased state funding for higher education…

  18. School Time Physical Activity of Students with and without Autism Spectrum Disorders during PE and Recess

    ERIC Educational Resources Information Center

    Pan, Chien-Yu

    2008-01-01

    This study compared moderate-to-vigorous physical activity (MVPA) of students with autism spectrum disorders (ASD) and students without disabilities during inclusive physical education and recess. Students (7-12 years) wore a uniaxial accelerometer in school for 5 consecutive school days. Results indicated a significant difference between…

  19. Jobs Lost, Jobs Gained: The Latino Experience in the Recession and Recovery.

    ERIC Educational Resources Information Center

    Kochhar, Rakesh

    This report documents labor market trends among Hispanics since the end of 2000, a period of recession and slow recovery, comparing their experiences with those of non-Hispanics and detailing changes by industry, occupation, region, and other economic and demographic attributes. Data come from the Current Population Survey. Hispanic employment was…

  20. Semilunar vestibular technique: A novel procedure for multiple recession coverage (a report of two cases)

    PubMed Central

    Pandit, Nymphea; Pandit, Inder Kumar; Bali, Deepika; Jindal, Shaifi

    2015-01-01

    The procedures for root coverage have been greatly refined over the past few decades. Still as compared to the other periodontal surgical procedures, predictability of mucogingival procedures remains uncertain which is more in patients who present with multiple recessions or recession complicated with periodontal involvement. Techniques which claim success almost always involve a second surgical site. A novel technique avoiding second surgical site and good predictability for multiple recessions was described by Dr. P.D. Miller in a conference at Pune in 2011. A semilunar vestibular incision technique described by Dr. P.D Miller was performed on two patients who presented with multiple recessions in the maxillary anterior teeth. About 90–100% root coverage was observed when the patients were on a follow-up for 1-year with a significant increase in the vestibular depth. The semilunar vestibular incision technique used in two cases resulted in predictable root coverage with a good color blend, an esthetic marginal morphology and most importantly the avoidance of the second surgical site. PMID:26941524

  1. Assigned Leaders in Unionized Environments: Coping with the Economic Recession and Its Aftermath in Academic Libraries

    ERIC Educational Resources Information Center

    Lim, Adriene

    2012-01-01

    Despite the fact that the rate of unionism has grown in institutions of higher education over the past several decades, and the recent economic recession occurred at the same time that academic libraries faced accelerating changes in scholarly communication and technology, increased demands for accountability, and heightened external competition,…

  2. Physical Activity Patterns During School Recess: A Study in Children 6 to 10 Years Old

    ERIC Educational Resources Information Center

    Lopes, Victor; Vasques, Catarina Margarida Silva; de Oliveira Pereira, Maria Beatriz Ferreira Leite

    2006-01-01

    The aims of this study were to characterize the spontaneous physical activity of children during school recess, and to estimate variation in physical activity associated with gender and age. A MTI actigraph (Model 7164) was used with a sample of 140 boys and 131 girls, 6 to 10 years of age. MTI counts were converted to METs using a regression…

  3. Global Recession and Higher Education in Eastern Asia: China, Mongolia and Vietnam

    ERIC Educational Resources Information Center

    Postiglione, Gerard A.

    2011-01-01

    This paper presents a perspective on the capacity of colleges and universities during past and present economic shocks. The main argument is that the environment of the global recession--an Asia far more economically integrated than during past economic shocks, with more unified aspirations to be globally competitive and socially responsible--no…

  4. Marx and Foucault: Subjectivity, Employability and the Crisis of Youth Unemployment in the Great Global Recession

    ERIC Educational Resources Information Center

    Peters, Michael A.; Besley, Tina

    2013-01-01

    This article explores the different approaches taken to the concepts of work or labour by Marx and Foucault, examining in particular the question of subjectivity in relation to youth unemployment and the current crisis of youth unemployment as part of the aftermath of the global recession of 2008.

  5. Student Responses to the Pre-Election Recess, October 21-November 3, 1970.

    ERIC Educational Resources Information Center

    Eagle, Norman; And Others

    In order to assess the value of the 1970 pre-election recess of 11 days at Bronx Community College, a questionnaire was administered to a controlled sample of an estimated 500 day and 400 evening students after the students' return to classes. Results indicate that 78 percent spent no time on political or electoral work. Only two percent engaged…

  6. Phenotypic and genetic effects of recessive haplotypes on yield, longevity, and fertility

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Phenotypes from the August 2015 US national genetic evaluation were used to compute phenotypic effects of cholesterol deficiency (CD) and 17 other recessive haplotypes in Ayrshire (AY; n=1), Brown Swiss (BS; n = 5), Holstein (HO; n = 10), and Jersey (JE; n = 2) cattle on milk, fat, and protein yield...

  7. Organizational Adaptation of Liberal Arts Colleges during the Great Recession of 2007

    ERIC Educational Resources Information Center

    Hilbun, Ashlie Junot; Mamiseishvili, Ketevan

    2016-01-01

    The study we report here explored how private liberal arts colleges adapted to the Great Recession of 2007. We examined institutional changes at three private liberal arts colleges and their effects on the institutions' operations. For this multiple-case study we analyzed data from three colleges in the southeastern region of the United States;…

  8. Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.

    PubMed

    Al-Owain, Mohammed; Al-Zaidan, Hamad; Al-Hassnan, Zuhair

    2012-10-01

    Saudi Arabia has a population of 27.1 million. Prevalence of many autosomal recessive disorders is higher than in other known populations. This is attributable to the high rate of consanguineous marriages (56%), the tribal structure, and large family size. Founder mutations have been recognized in many autosomal recessive disorders, many of which are overrepresented within certain tribes. On the other hand, allelic heterogeneity is also observed among common and rare autosomal recessive conditions. With the adoption of more advanced molecular techniques in the country in recent years in conjunction with international collaboration, the mapping of various autosomal recessive disorders has increased dramatically. Different genetic concepts pertinent to this highly inbred population are discussed here. Addressing such genetic disorders at the national level will become a cornerstone of strategic health care initiatives in the 21st century. Current efforts are hampered by many socio-cultural and health care related factors. Education about genetic diseases, establishment of a "national registry" and mutational database, and enhanced healthcare access are crucial for success of any preventative campaign. PMID:22903695

  9. The Role of Physical Education Lessons and Recesses in School Lifestyle of Adolescents

    ERIC Educational Resources Information Center

    Frömel, Karel; Svozil, Zbynek; Chmelík, František; Jakubec, Lukáš; Groffik, Dorota

    2016-01-01

    Background: This study investigates school lifestyle among adolescents in terms of physical activity (PA) structure: (1) adolescents participating in a physical education lesson (PEL) versus (2) aggregate recess time exceeding 60 minutes. Methods: The research was conducted in 24 secondary schools in the Czech Republic (boys N = 208, girls N =…

  10. Mapping the impact of climate change on surface recession of carbonate buildings in Europe.

    PubMed

    Bonazza, Alessandra; Messina, Palmira; Sabbioni, Cristina; Grossi, Carlota M; Brimblecombe, Peter

    2009-03-01

    Climate change is currently attracting interest at both research and policy levels. However, it is usually explored in terms of its effect on agriculture, water, industry, energy, transport and health and as yet has been insufficiently addressed as a factor threatening cultural heritage. Among the climate parameters critical to heritage conservation and expected to change in the future, precipitation plays an important role in surface recession of stone. The Lipfert function has been taken under consideration to quantify the annual surface recession of carbonate stone, due to the effects of clean rain, acid rain and dry deposition of pollutants. The present paper provides Europe-wide maps showing quantitative predictions of surface recession on carbonate stones for the 21st century, combining a modified Lipfert function with output from the Hadley global climate model. Chemical dissolution of carbonate stones, via the karst effect, will increase with future CO(2) concentrations, and will come to dominate over sulfur deposition and acid rain effects on monuments and buildings in both urban and rural areas. During the present century the rainfall contribution to surface recession is likely to have a small effect, while the increase in atmospheric CO(2) concentration is shown to be the main factor in increasing weathering via the karst effect.

  11. Is the Elimination of Recess in School a Violation of a Child's Basic Human Rights?

    ERIC Educational Resources Information Center

    Dubroc, Alicia M.

    2007-01-01

    The elimination of recess in schools across the country is becoming a normal occurrence in many communities, large and small. In each study presented in this content analysis, we find that free time and unstructured play is indeed essential to a child's healthy cognitive development. Article 31 of the United Nations Convention on the Rights of…

  12. The Impacts of the Great Recession on State Natural Resource Extension Programs

    ERIC Educational Resources Information Center

    Serenari, Christopher; Peterson, M. Nils; Bardon, Robert E.; Brown, Robert D.

    2013-01-01

    The Great Recession contributed to major budget cuts for natural resource Extension programs in the United States. Despite the potentially large cuts, their impacts and how Extension has adapted their programs have not been evaluated. We begin addressing these needs with surveys of Association of Natural Resource Extension Professionals members…

  13. Community College Presidents' Perspectives of Dichotomous Events: The Consequences of the Great Recession & Coincidental Increased Enrollment

    ERIC Educational Resources Information Center

    Carlson, Corey W.

    2013-01-01

    The community college, like all of higher education, has been significantly impacted by the Great Recession and coincidental increased enrollment. The purpose of this qualitative study was to examine the decision making processes of community college presidents as related to resource allocation and the impact of these decisions on the…

  14. The Outdoor Recess Activities of Children at an Urban School: Longitudinal and Intraperiod Patterns

    ERIC Educational Resources Information Center

    Holmes, Robyn M.

    2012-01-01

    Based on a study of 149 parochial-school students enrolled in kindergarten through eighth grade, this article explores children's outdoor recess activities in an urban setting--with a focus on how age, gender, and size of play group influence their outdoor play preferences--and examines changes in children's activity preferences over a single…

  15. Lessons Learned from the Great Recession: Layoffs and the RIF-Induced Teacher Shuffle

    ERIC Educational Resources Information Center

    Goldhaber, Dan; Strunk, Katharine O.; Brown, Nate; Knight, David S.

    2016-01-01

    One consequence of the Great Recession is that teacher layoffs occurred at a scale previously unseen. In this article, we assess the effects of receiving a layoff notice on teacher mobility using data from Los Angeles and Washington State. Our analyses are based on 6-year panels of data in each site, including 4 years of layoffs. We find that the…

  16. Safety of steroid injections in the treatment of nasofrontal recess obstruction.

    PubMed

    Dutton, J M; Bumsted, R M

    2001-01-01

    A retrospective review was undertaken to determine if steroid injection is a safe and effective intervention in the management of chronic nasofrontal recess obstruction. Seventy-four patients were identified who had undergone prior endoscopic sinus surgery and subsequently developed nasofrontal recess obstruction that was treated with injection of Kenalog 20 mg/mL (Bristol-Myers Squibb Co., Princeton, NJ) directly into the polyps or fibrosis. The study included 38 men and 36 women with a mean age of 45.4 years. These patients collectively underwent 687 injections, an average of 9.3 injections per patient. The indication was polyposis in 70 patients and fibrosis in 17 patients, with 13 sharing both indications. These patients also required 112 office procedures to maintain nasofrontal recess patency, an average of 1.5 procedures per patient. Three patients eventually required frontal sinus obliteration. The mean follow-up period from the initial injection was 50.1 months, and no complications were reported. Therefore, nasofrontal steroid injection appears to be safe and effective in the treatment of nasofrontal recess obstruction.

  17. Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes.

    PubMed

    Irons, M B; Bianchi, D W; Geggel, R L; Marx, G R; Bhan, I

    1996-12-01

    We describe two brothers with congenital lymphedema of lower limbs, atrial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This combination of congenital lymphedema and ASD differs from other reported cases of congenital lymphedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.

  18. The Great Recession and Behavior Problems in 9-Year Old Children

    ERIC Educational Resources Information Center

    Schneider, William; Waldfogel, Jane; Brooks-Gunn, Jeanne

    2015-01-01

    This article examines associations between the Great Recession and 4 aspects of 9-year olds' behavior--aggression (externalizing), anxiety/depression (internalizing), alcohol and drug use, and vandalism-using the Fragile Families and Child Wellbeing Study, a longitudinal birth cohort drawn from 20 U.S. cities (21% White, 50% Black, 26% Hispanic,…

  19. Recess before Lunch in Elementary Schools: Development of a Best Practice Checklist

    ERIC Educational Resources Information Center

    Rainville, Alice Jo; Lofton, Kristi L.; Carr, Deborah H.

    2009-01-01

    Purpose/Objectives: The purpose of this study was to determine the best practices (quality indicators) related to recess placement before lunch in elementary schools; compile a best practices checklist that can be used as an assessment tool for school nutrition programs; and validate and evaluate the usefulness of the best practices checklist.…

  20. Trends in Catholic School Minority Enrollment and Higher Education Entrance over the Recession

    ERIC Educational Resources Information Center

    Setari, Anthony Philip; Setari, R. Renee

    2016-01-01

    Research has shown that enrollment in Catholic secondary schools has positive outcomes for minority students, including increased enrollment in higher education institutions and higher academic achievement. The purpose of this study was to examine if minority enrollment in secondary schools altered over the recession (2007-2009). Results of this…

  1. Prediction of seaward slope recession in berm breakwaters using M5' machine learning approach

    NASA Astrophysics Data System (ADS)

    Hosseini, Alireza Sadat; Shafieefar, Mehdi

    2016-03-01

    In the design process of berm breakwaters, their front slope recession has an inevitable rule in large number of model tests, and this parameter being studied. This research draws its data from Moghim's and Shekari's experiment results. These experiments consist of two different 2D model tests in two wave flumes, in which the berm recession to different sea state and structural parameters have been studied. Irregular waves with a JONSWAP spectrum were used in both test series. A total of 412 test results were used to cover the impact of sea state conditions such as wave height, wave period, storm duration and water depth at the toe of the structure, and structural parameters such as berm elevation from still water level, berm width and stone diameter on berm recession parameters. In this paper, a new set of equations for berm recession is derived using the M5' model tree as a machine learning approach. A comparison is made between the estimations by the new formula and the formulae recently given by other researchers to show the preference of new M5' approach.

  2. Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

    PubMed

    Gonzalez, Michael; Nampoothiri, Sheela; Kornblum, Cornelia; Oteyza, Andrés Caballero; Walter, Jochen; Konidari, Ioanna; Hulme, William; Speziani, Fiorella; Schöls, Ludger; Züchner, Stephan; Schüle, Rebecca

    2013-11-01

    Hereditary spastic paraplegias (HSP) are a genetically heterogeneous group of disorders characterized by a distal axonopathy of the corticospinal tract motor neurons leading to progressive lower limb spasticity and weakness. Intracellular membrane trafficking, mitochondrial dysfunction and myelin formation are key functions involved in HSP pathogenesis. Only recently defects in metabolism of complex lipids have been implicated in a number of HSP subtypes. Mutations in the 23 known autosomal recessive HSP genes explain less than half of autosomal recessive HSP cases. To identify novel autosomal recessive HSP disease genes, exome sequencing was performed in 79 index cases with autosomal recessive forms of HSP. Resulting variants were filtered and intersected between families to allow identification of new disease genes. We identified two deleterious mutations in the phospholipase DDHD2 gene in two families with complicated HSP. The phenotype is characterized by early onset of spastic paraplegia, mental retardation, short stature and dysgenesis of the corpus callosum. Phospholipase DDHD2 is involved in intracellular membrane trafficking at the golgi/ endoplasmic reticulum interface and has been shown to possess phospholipase A1 activity in vitro. Discovery of DDHD2 mutations in HSP might therefore provide a link between two key pathogenic themes in HSP: membrane trafficking and lipid metabolism.

  3. Exploring changes in the spatial distribution of stream baseflow generation during a seasonal recession

    USGS Publications Warehouse

    Payn, R.A.; Gooseff, M.N.; McGlynn, B.L.; Bencala, K.E.; Wondzell, S.M.

    2012-01-01

    Relating watershed structure to streamflow generation is a primary focus of hydrology. However, comparisons of longitudinal variability in stream discharge with adjacent valley structure have been rare, resulting in poor understanding of the distribution of the hydrologic mechanisms that cause variability in streamflow generation along valleys. This study explores detailed surveys of stream base flow across a gauged, 23 km2 mountain watershed. Research objectives were (1) to relate spatial variability in base flow to fundamental elements of watershed structure, primarily topographic contributing area, and (2) to assess temporal changes in the spatial patterns of those relationships during a seasonal base flow recession. We analyzed spatiotemporal variability in base flow using (1) summer hydrographs at the study watershed outlet and 5 subwatershed outlets and (2) longitudinal series of discharge measurements every ~100 m along the streams of the 3 largest subwatersheds (1200 to 2600 m in valley length), repeated 2 to 3 times during base flow recession. Reaches within valley segments of 300 to 1200 m in length tended to demonstrate similar streamflow generation characteristics. Locations of transitions between these segments were consistent throughout the recession, and tended to be collocated with abrupt longitudinal transitions in valley slope or hillslope-riparian characteristics. Both within and among subwatersheds, correlation between the spatial distributions of streamflow and topographic contributing area decreased during the recession, suggesting a general decrease in the influence of topography on stream base flow contributions. As topographic controls on base flow evidently decreased, multiple aspects of subsurface structure were likely to have gained influence.

  4. Factors influencing the recession rate of Niagara Falls since the 19th century

    NASA Astrophysics Data System (ADS)

    Hayakawa, Yuichi S.; Matsukura, Yukinori

    2009-09-01

    The rate of recession of Niagara Falls (Horseshoe and American Falls) in northeastern North America has been documented since the 19th century; it shows a decreasing trend from ca. 1 m y - 1 a century ago to ca. 0.1 m y - 1 at present. Reduction of the flow volume in the Niagara River due to diversion into bypassing hydroelectric schemes has often been taken to be the factor responsible, but other factors such as changes in the waterfall shape could play a role and call for a quantitative study. Here, we examine the effect of physical factors on the historically varying recession rates of Niagara Falls, using an empirical equation which has previously been proposed based on a non-dimensional multiparametric model which incorporates flow volume, waterfall shape and bedrock strength. The changes in recession rates of Niagara Falls in the last century are successfully modeled by this empirical equation; these changes are caused by variations in flow volume and lip length. This result supports the validity of the empirical equation for waterfalls in rivers carrying little transported sediment. Our analysis also suggests that the decrease in the recession rate of Horseshoe Falls is related to both artificial reduction in river discharge and natural increase in waterfall lip length, whereas that of American Falls is solely due to the reduction in flow volume.

  5. The Midwest Challenge: Matching Jobs with Education in the Post-Recession Economy

    ERIC Educational Resources Information Center

    Carnevale, Anthony P.; Smith, Nicole

    2011-01-01

    No one has had it worse than the Midwest. Job losses in the "great recession" of 2007 spared no region, but the bulk of industries hardest hit were in the Midwestern states. This is the second of a series of reports detailing the job and educational demand prospects for workers, by major census regions. When compared to all other regions, the loss…

  6. Impact of the economic recession on companion animal relinquishment, adoption, and euthanasia: a Chicago animal shelter's experience.

    PubMed

    Weng, Hsin-Yi; Hart, Lynette A

    2012-01-01

    This study investigated how the current economic recession (since December 2007) has affected dog and cat relinquishment, adoption, and euthanasia at the Anti-Cruelty Society animal shelter in Chicago, Illinois. The study compared temporal patterns of the investigated statistics before (2000-2007) the start of the current recession with the patterns after the start of the recession (2008-2010). The results showed that once the guardianship (ownership) of a nonhuman animal had been established, the recession did not greatly affect the owner's decision on relinquishment-except for the relinquishment of senior dogs, which may be associated with increased costs of care. However, an unfavorable economic environment may have reduced adoption of animals. The consequences of a decline in adoptions might be reflected in an increase in the proportion or number of sheltered animals euthanized. This study demonstrated how monitoring changes in temporal patterns in these shelter statistics can help guide animal shelters to better prepare for the current recession.

  7. Congenital Recessive Methemoglobinemia Revealed in Adulthood: Description of a New Mutation in Cytochrome b5 Reductase Gene.

    PubMed

    Forestier, Alexandra; Pissard, Serge; Cretet, Justine; Mambie, Adeline; Pascal, Laurent; Cliquennois, Manuel; Cambier, Nathalie; Rose, Christian

    2015-01-01

    Methemoglobinemia can be acquired (oxidizing drugs or chemicals products) or inherited either by mutations affecting globin chains [M hemoglobins (M Hbs)] or by defects in the enzymatic system involved in the reduction of spontaneous Hb oxidation: nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase. It is encoded by the CYB5R3 gene: there are two phenotypes of autosomal recessive congenital methemoglobinemia, in type II CYB5R deficiency is generalized and affects all cells, leading to an early onset, whereas in type I, the enzyme deficiency is restricted to erythrocytes, usually discovered in infancy but not exclusively. We report a new case of methemoglobinemia discovered in a patient from Bahrain who exhibited an unknown dyspnea at the age of 37 years without trigger events or oxidizing products. We discovered a new mutation in the CYB5R3 gene: exon 9, codon 266 (delGAG) (GLU) (CYB5R3: c.726_729delGAG) in the homozygous state. Appearance of methemoglobinemia in an adult usually suggests an acquired cause but our case illustrated that it could also reveal a type I mutation of cytochrome b5 reductase. PMID:26291966

  8. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.

    PubMed

    Wycisk, Katharina Agnes; Zeitz, Christina; Feil, Silke; Wittmer, Mariana; Forster, Ursula; Neidhardt, John; Wissinger, Bernd; Zrenner, Eberhart; Wilke, Robert; Kohl, Susanne; Berger, Wolfgang

    2006-11-01

    Retinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses. We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones. The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type. Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease. We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C-->A) in CACNA2D4. The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame. Both patients share symptoms of slowly progressing cone dystrophy. These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy.

  9. Tuberculosis control and economic recession: longitudinal study of data from 21 European countries, 1991–2012

    PubMed Central

    Reeves, Aaron; Basu, Sanjay; McKee, Martin; Sandgren, Andreas; Semenza, Jan C

    2015-01-01

    Abstract Objective To investigate whether the economic recession affected the control of tuberculosis in the European Union. Methods Multivariate regression models were used to quantify the association between gross domestic product, public health expenditure and tuberculosis case detection rates, using data from 21 European Union member states (1991–2012). The estimated changes in case detection attributable to the recession were combined with mathematical models of tuberculosis transmission, to project the potential influence of the recession on tuberculosis epidemiology until 2030. Findings Between 1991 and 2007, detection rates for sputum-smear-positive tuberculosis in the European Union were stable at approximately 85%. During the economic recession (2008–2011) detection rates declined by a mean of 5.22% (95% confidence interval, CI: 2.54–7.90) but treatment success rates showed no significant change (P = 0.62). A fall in economic output of 100 United States dollars per capita was associated with a 0.22% (95% CI: 0.05–0.39) mean reduction in the tuberculosis case detection rate. An equivalent fall in spending on public health services was associated with a 2.74% (95% CI: 0.31–5.16) mean reduction in the detection rate. Mathematical models suggest that the recession and consequent austerity policies will lead to increases in tuberculosis prevalence and tuberculosis-attributable mortality that are projected to persist for over a decade. Conclusion Across the European Union, reductions in spending on public health services appear to have reduced tuberculosis case detection and to have increased the long-term risk of a resurgence in the disease. PMID:26240458

  10. Characterization of Candidate Materials for Remote Recession Measurements of Ablative Heat Shield Materials

    NASA Technical Reports Server (NTRS)

    Butler, Bradley D.; Winter, Michael; Panerai, Francesco; Martin, Alexandre; Bailey, Sean C. C.; Stackpoole, Margaret; Danehy, Paul M.; Splinter, Scott

    2016-01-01

    A method of remotely measuring surface recession of a material sample in a plasma flow through emission spectroscopy of the post shock layer was characterized through experiments in the NASA Langley HYMETS arc jet facility. Different methods for delivering the seed products into the Phenolic Impregnated Carbon Ablator (PICA) material samples were investigated. Three samples were produced by seeding the PICA material with combinations of Al, Si, HfO2, VB2, Al2O3, SiO2, TiC, HfC, NaCl, and MgCl2 through infusing seed materials into a core of PICA, or through encapsulating seed material in an epoxy disk, mechanically bonding the disk to a PICA sample. The PICA samples seeded with the candidate tracers were then tested at surface temperatures near 2400 K under low pressure air plasma. The emission of Al, Ti, V, Na, and Mg in the post-shock layer was observed in the UV with a high resolution imaging spectrometer viewing the whole stagnation line from the side, and from UV to NIR with a fiber-coupled miniaturized spectrometer observing the sample surface in the wavelength range from 200 nm to 1,100 nm from the front through a collimator. Al, Na, and Mg were found to be emitting in the post-shock spectra even before the recession reached the seeding depth - therefore possibly characterizing the pyrolysis process rather than the recession itself. The appearance of Ti and V emission in the spectra was well correlated with the actual recession which was monitored through a video of the front surface of the sample. The applicability of a seed material as an indicator for recession appears to be related to the melting temperature of the seed material. Future parametric studies will be carried out in low power plasma facilities at the University of Kentucky.

  11. The mouse rumpshaker mutation of the proteolipid protein in human X-linked recessive spastic paraplegia

    SciTech Connect

    Kobayashi, H.; Hoffman, E.P.; Matise, T.C.

    1994-09-01

    X-linked recessive spastic paraplegia is a rare neurodegenerative disorder characterized by slowly progressive weakness and spasticity of the lower extremities. We have recently genetically analyzed the original X-linked recessive spastic paraplegia family reported by Johnston and McKusick in 1962. We employed a fluorescent multiplex CA repeat strategy using a 22 locus, 10 cM framework map of the human X chromosome and localized the gene within a 36 cM region of Xq2l.3-q24 which includes the PLP locus. Saugier-Veber et al. recently reported a point mutation (His139Tyr) in exon 3B of the PLP gene in an X-linked recessive spastic paraplegia family (SPG2). This family shows no optic atrophy, in contrast to the family we have studied. This data showed that SPG2 and Pelizaeus-Merzbacher disease were allelic disorders. We investigated the PLP gene as a candidate gene for the original X-linked recessive spastic paraplegia family using SSCP and direct sequencing methods. We found a point mutation (T to C) in exon 4 of affected males which alters the amino-acid (Ile to Thr) at residue 186. This change was absent in the unaffected males of the family and in 40 unrelated control females (80 X chromosomes). Surprisingly, this mutation is identical to the mutation previously identified in the rumpshaker mouse model. The complete homology between both the mouse and human PLP sequence, and the mouse rumpshaker mutation and human spastic paraplegia mutation in our family, permit direct parallels to be drawn with regards to pathophysiology. Our data indicates that the well-documented and striking clinical differences between Pelizaeus-Merzbacher disease and X-linked recessive spastic paraplegia is due to the specific effect of different mutations of the human PLP gene on oligodendrocyte differentiation and development and on later myelin production and maintenance.

  12. Carrier testing for severe childhood recessive diseases by next-generation sequencing.

    PubMed

    Bell, Callum J; Dinwiddie, Darrell L; Miller, Neil A; Hateley, Shannon L; Ganusova, Elena E; Mudge, Joann; Langley, Ray J; Zhang, Lu; Lee, Clarence C; Schilkey, Faye D; Sheth, Vrunda; Woodward, Jimmy E; Peckham, Heather E; Schroth, Gary P; Kim, Ryan W; Kingsmore, Stephen F

    2011-01-12

    Of 7028 disorders with suspected Mendelian inheritance, 1139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~10% of pediatric hospitalizations. 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 to most severe disease genes has hitherto been impractical. Here, we report a preconception carrier screen for 448 severe recessive childhood diseases. Rather than costly, complete sequencing of the human genome, 7717 regions from 437 target genes were enriched by hybrid capture or microdroplet polymerase chain reaction, sequenced by next-generation sequencing (NGS) to a depth of up to 2.7 gigabases, and assessed with stringent bioinformatic filters. At a resultant 160x average target coverage, 93% of nucleotides had at least 20x coverage, and mutation detection/genotyping had ~95% sensitivity and ~100% specificity for substitution, insertion/deletion, splicing, and gross deletion mutations and single-nucleotide polymorphisms. In 104 unrelated DNA samples, the average genomic carrier burden for severe pediatric recessive mutations was 2.8 and ranged from 0 to 7. The distribution of mutations among sequenced samples appeared random. Twenty-seven percent of mutations cited in the literature were found to be common polymorphisms or misannotated, underscoring the need for better mutation databases as part of a comprehensive carrier testing strategy. Given the magnitude of carrier burden and the lower cost of testing compared to treating these conditions, carrier screening by NGS made available to the general population may be an economical way to reduce the incidence of and ameliorate suffering associated with severe recessive childhood disorders. PMID:21228398

  13. Real-Time Inhibitor Recession Measurements in Two Space Shuttle Reusable Solid Rocket Motors

    NASA Technical Reports Server (NTRS)

    McWhorter, B. B.; Ewing, M. E.; Bolton, D. E.; Albrechtsen, K. U.; Earnest, T. E.; Noble, T. C.; Longaker, M.

    2003-01-01

    Real-time internal motor insulation char line recession measurements have been evaluated for two full-scale static tests of the Space Shuttle Reusable Solid Rocket Motor (RSRM). These char line recession measurements were recorded on the forward facing propellant grain inhibitors to better understand the thermal performance of these inhibitors. The RSRM propellant grain inhibitors are designed to erode away during motor operation, thus making it difficult to use post-fire observations to determine inhibitor thermal performance. Therefore, this new internal motor instrumentation is invaluable in establishing an accurate understanding of inhibitor recession versus motor operation time. The data for the first test was presented at the 37th AIAA/ASME/SAE/ASEE Joint Propulsion Conference and Exhibit (AIAA 2001-3280) in July 2001. Since that time, a second full scale static test has delivered additional real-time data on inhibitor thermal performance. The evaluation of this data is presented in this paper. The second static test, in contrast to the first test, used a slightly different arrangement of instrumentation in the inhibitors. This instrumentation has yielded a better understanding of the inhibitor time dependent inboard tip recession. Graphs of inhibitor recession profiles with time are presented. Inhibitor thermal ablation models have been created from theoretical principals. The model predictions compare favorably with data from both tests. This verified modeling effort is important to support new inhibitor designs for a five segment Space Shuttle solid rocket motor. The internal instrumentation project on RSRM static tests is providing unique opportunities for other real-time internal motor measurements that could not otherwise be directly quantified.

  14. Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

    PubMed Central

    Bell, Callum J.; Dinwiddie, Darrell L.; Miller, Neil A.; Hateley, Shannon L.; Ganusova, Elena E.; Mudge, Joann; Langley, Ray J.; Zhang, Lu; Lee, Clarence C.; Schilkey, Faye D.; Sheth, Vrunda; Woodward, Jimmy E.; Peckham, Heather E.; Schroth, Gary P.; Kim, Ryan W.; Kingsmore, Stephen F.

    2011-01-01

    Of 7028 disorders with suspected Mendelian inheritance, 1139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~10% of pediatric hospitalizations. 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 to most severe disease genes has hitherto been impractical. Here, we report a preconception carrier screen for 448 severe recessive childhood diseases. Rather than costly, complete sequencing of the human genome, 7717 regions from 437 target genes were enriched by hybrid capture or microdroplet polymerase chain reaction, sequenced by next-generation sequencing (NGS) to a depth of up to 2.7 gigabases, and assessed with stringent bioinformatic filters. At a resultant 160× average target coverage, 93% of nucleotides had at least 20× coverage, and mutation detection/genotyping had ~95% sensitivity and ~100% specificity for substitution, insertion/deletion, splicing, and gross deletion mutations and single-nucleotide polymorphisms. In 104 unrelated DNA samples, the average genomic carrier burden for severe pediatric recessive mutations was 2.8 and ranged from 0 to 7. The distribution of mutations among sequenced samples appeared random. Twenty-seven percent of mutations cited in the literature were found to be common polymorphisms or misannotated, underscoring the need for better mutation databases as part of a comprehensive carrier testing strategy. Given the magnitude of carrier burden and the lower cost of testing compared to treating these conditions, carrier screening by NGS made available to the general population may be an economical way to reduce the incidence of and ameliorate suffering associated with severe recessive childhood disorders. PMID:21228398

  15. Development of a novel recessive genetic male sterility system for hybrid seed production in maize and other cross-pollinating crops.

    PubMed

    Wu, Yongzhong; Fox, Tim W; Trimnell, Mary R; Wang, Lijuan; Xu, Rui-Ji; Cigan, A Mark; Huffman, Gary A; Garnaat, Carl W; Hershey, Howard; Albertsen, Marc C

    2016-03-01

    We have developed a novel hybridization platform that utilizes nuclear male sterility to produce hybrids in maize and other cross-pollinating crops. A key component of this platform is a process termed Seed Production Technology (SPT). This process incorporates a transgenic SPT maintainer line capable of propagating nontransgenic nuclear male-sterile lines for use as female parents in hybrid production. The maize SPT maintainer line is a homozygous recessive male sterile transformed with a SPT construct containing (i) a complementary wild-type male fertility gene to restore fertility, (ii) an α-amylase gene to disrupt pollination and (iii) a seed colour marker gene. The sporophytic wild-type allele complements the recessive mutation, enabling the development of pollen grains, all of which carry the recessive allele but with only half carrying the SPT transgenes. Pollen grains with the SPT transgenes exhibit starch depletion resulting from expression of α-amylase and are unable to germinate. Pollen grains that do not carry the SPT transgenes are nontransgenic and are able to fertilize homozygous mutant plants, resulting in nontransgenic male-sterile progeny for use as female parents. Because transgenic SPT maintainer seeds express a red fluorescent protein, they can be detected and efficiently separated from seeds that do not contain the SPT transgenes by mechanical colour sorting. The SPT process has the potential to replace current approaches to pollen control in commercial maize hybrid seed production. It also has important applications for other cross-pollinating crops where it can unlock the potential for greater hybrid productivity through expanding the parental germplasm pool.

  16. Gingival recession and associated factors in a homogeneous Mexican adult male population: A cross-sectional study

    PubMed Central

    Minaya-Sánchez, Mirna; Medina-Solís, Carlo E.; Vallejos-Sánchez, Ana A.; Marquez-Corona, Maria L.; Pontigo-Loyola, América P.; Islas-Granillo, Horacio; Maupomé, Gerardo

    2012-01-01

    Background: Diverse variables are implicated in the pathogenesis of gingival recession; more detailed knowledge about the relationship between the clinical presentation of gingival recession and assorted risk indicators may lead to improved patient monitoring, early intervention, and subsequent prevention. The objective was to evaluate clinically gingival recession in a homogeneous Mexican adult male population and to determine the strength of association with related factors. Method: A cross-sectional study was carried out in a largely homogeneous group in terms of ethnic background, socioeconomic status, gender, occupation, and medical/dental insurance, in Campeche, Mexico. Periodontal examinations were undertaken to determine diverse clinical dental variables. All periodontal clinical examinations were assessed using the Florida Probe System, a dental chair and one examiner. Questionnaires were used to collect diverse risk indicators. Statistical analyses were undertaken with negative binomial regression models. Results: The mean number of sites with gingival recession per subject was 6.73±5.81; the prevalence was 87.6%. In the negative binomial regression model we observed that for (i) each year of age, and (ii) each percentage unit of increase in sites with plaque, and (iii) with suppuration, mean sites with gingival recession increased 2.9%, 1.0% and 13.0%, respectively. Having a spouse was associated with gingival recession. Conclusions: We observed association between gingival recession, and sociodemographic and clinical parameters. Patients need to be educated about risk indicators for gingival recession as well as the preventive maneuvers that may be implemented to minimize its occurrence. The potential of improved oral self-care to prevent a largely benign condition such as gingival recession is important, given the associated disorders that may ensue root exposure, such as root caries and root hypersensitivity. Key words:Oral health, periodontal health

  17. Surgical treatment of localized gingival recessions using coronally advanced flaps with or without subepithelial connective tissue graft

    PubMed Central

    Bellver-Fernández, Ricardo; Martínez-Rodriguez, Ana-María; Gioia-Palavecino, Claudio; Caffesse, Raul-Guillermo

    2016-01-01

    Background A coronally advanced flap with subepithelial connective tissue graft is the gold standard surgical treatment of gingival recessions, since it offers a higher probability of achieving complete root coverage compared with other techniques. However, optimum short- and middle-term clinical results have also been obtained with coronally advanced flaps alone. The aim of the present study was to evaluate the results obtained by the surgical treatment of localized gingival recessions using coronally advanced flaps with or without subepithelial connective tissue graft. Material and Methods The reduction of recession height was assessed, together with the gain in gingival attachment apical to the recession, and total reduction of recession, in a comparative study of two techniques. Twenty-two gingival recessions were operated upon: 13 in the control group (coronally advanced flap) and 9 in the test group (coronally advanced flap associated to subepithelial connective tissue graft). Results After 18 months, the mean reduction of recession height was 2.2 ± 0.8 mm in the control group and 2.3 ± 0.7 mm in the test group, with a mean gain in gingival attachment of 1.3 ± 0.9 mm and 2.3 ± 1.3 mm, respectively. In percentage terms, the mean reduction of recession height was 84.6 ± 19.6% in the control group and 81.7 ± 17.8% in the test group, with a mean gain in gingival attachment of 20.5 ± 37.4% and 184.4 ± 135.5%, respectively. Conclusions Significant reduction of gingival recession was achieved with both techniques, though the mean gain in gingival attachment (in mm and as a %) was greater in test group. Key words:Gingival recession, coronally advanced flap, subepthelial connective tissue graft. PMID:26595836

  18. Uniform versus asymmetric shading mediates crown recession in conifers.

    PubMed

    Schoonmaker, Amanda L; Lieffers, Victor J; Landhäusser, Simon M

    2014-01-01

    In this study we explore the impact of asymmetrical vs. uniform crown shading on the mortality and growth of upper and lower branches within tree crowns, for two conifer species: shade intolerant lodgepole pine (Pinus contorta) and shade tolerant white spruce (Picea glauca). We also explore xylem hydraulics, foliar nutrition, and carbohydrate status as drivers for growth and expansion of the lower and upper branches in various types of shading. This study was conducted over a two-year period across 10 regenerating forest sites dominated by lodgepole pine and white spruce, in the lower foothills of Alberta, Canada. Trees were assigned to one of four shading treatments: (1), complete uniform shading of the entire tree, (2) light asymmetric shading where the lower 1/4-1/3 of the tree crown was shaded, (3) heavy asymmetric shading as in (2) except with greater light reduction and (4) control in which no artificial shading occurred and most of the entire crown was exposed to full light. Asymmetrical shading of only the lower crown had a larger negative impact on the bud expansion and growth than did uniform shading, and the effect was stronger in pine relative to spruce. In addition, lower branches in pine also had lower carbon reserves, and reduced xylem-area specific conductivity compared to spruce. For both species, but particularly the pine, the needles of lower branches tended to store less C than upper branches in the asymmetric shade, which could suggest a movement of reserves away from the lower branches. The implications of these findings correspond with the inherent shade tolerance and self-pruning behavior of these conifers and supports a carbon based mechanism for branch mortality--mediated by an asymmetry in light exposure of the crown. PMID:25136823

  19. 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. PMID:26063662

  20. Uniform versus asymmetric shading mediates crown recession in conifers.

    PubMed

    Schoonmaker, Amanda L; Lieffers, Victor J; Landhäusser, Simon M

    2014-01-01

    In this study we explore the impact of asymmetrical vs. uniform crown shading on the mortality and growth of upper and lower branches within tree crowns, for two conifer species: shade intolerant lodgepole pine (Pinus contorta) and shade tolerant white spruce (Picea glauca). We also explore xylem hydraulics, foliar nutrition, and carbohydrate status as drivers for growth and expansion of the lower and upper branches in various types of shading. This study was conducted over a two-year period across 10 regenerating forest sites dominated by lodgepole pine and white spruce, in the lower foothills of Alberta, Canada. Trees were assigned to one of four shading treatments: (1), complete uniform shading of the entire tree, (2) light asymmetric shading where the lower 1/4-1/3 of the tree crown was shaded, (3) heavy asymmetric shading as in (2) except with greater light reduction and (4) control in which no artificial shading occurred and most of the entire crown was exposed to full light. Asymmetrical shading of only the lower crown had a larger negative impact on the bud expansion and growth than did uniform shading, and the effect was stronger in pine relative to spruce. In addition, lower branches in pine also had lower carbon reserves, and reduced xylem-area specific conductivity compared to spruce. For both species, but particularly the pine, the needles of lower branches tended to store less C than upper branches in the asymmetric shade, which could suggest a movement of reserves away from the lower branches. The implications of these findings correspond with the inherent shade tolerance and self-pruning behavior of these conifers and supports a carbon based mechanism for branch mortality--mediated by an asymmetry in light exposure of the crown.

  1. Uniform versus Asymmetric Shading Mediates Crown Recession in Conifers

    PubMed Central

    Schoonmaker, Amanda L.; Lieffers, Victor J.; Landhäusser, Simon M.

    2014-01-01

    In this study we explore the impact of asymmetrical vs. uniform crown shading on the mortality and growth of upper and lower branches within tree crowns, for two conifer species: shade intolerant lodgepole pine (Pinus contorta) and shade tolerant white spruce (Picea glauca). We also explore xylem hydraulics, foliar nutrition, and carbohydrate status as drivers for growth and expansion of the lower and upper branches in various types of shading. This study was conducted over a two-year period across 10 regenerating forest sites dominated by lodgepole pine and white spruce, in the lower foothills of Alberta, Canada. Trees were assigned to one of four shading treatments: (1), complete uniform shading of the entire tree, (2) light asymmetric shading where the lower 1/4–1/3 of the tree crown was shaded, (3) heavy asymmetric shading as in (2) except with greater light reduction and (4) control in which no artificial shading occurred and most of the entire crown was exposed to full light. Asymmetrical shading of only the lower crown had a larger negative impact on the bud expansion and growth than did uniform shading, and the effect was stronger in pine relative to spruce. In addition, lower branches in pine also had lower carbon reserves, and reduced xylem-area specific conductivity compared to spruce. For both species, but particularly the pine, the needles of lower branches tended to store less C than upper branches in the asymmetric shade, which could suggest a movement of reserves away from the lower branches. The implications of these findings correspond with the inherent shade tolerance and self-pruning behavior of these conifers and supports a carbon based mechanism for branch mortality – mediated by an asymmetry in light exposure of the crown. PMID:25136823

  2. A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.

    PubMed

    Kondo, Mineo; Das, Gautami; Imai, Ryoetsu; Santana, Evelyn; Nakashita, Tomio; Imawaka, Miho; Ueda, Kosuke; Ohtsuka, Hirohiko; Sakai, Kazuhiko; Aihara, Takehiro; Kato, Kumiko; Sugimoto, Masahiko; Ueno, Shinji; Nishizawa, Yuji; Aguirre, Gustavo D; Miyadera, Keiko

    2015-01-01

    Congenital stationary night blindness (CSNB) is a non-progressive, clinically and genetically heterogeneous disease of impaired night vision. We report a naturally-occurring, stationary, autosomal recessive phenotype in beagle dogs with normal daylight vision but absent night vision. Affected dogs had normal retinas on clinical examination, but showed no detectable rod responses. They had "negative-type" mixed rod and cone responses in full-field ERGs. Their photopic long-flash ERGs had normal OFF-responses associated with severely reduced ON-responses. The phenotype is similar to the Schubert-Bornschein form of complete CSNB in humans. Homozygosity mapping ruled out most known CSNB candidates as well as CACNA2D4 and GNB3. Three remaining genes were excluded based on sequencing the open reading frame and intron-exon boundaries (RHO, NYX), causal to a different form of CSNB (RHO) or X-chromosome (NYX, CACNA1F) location. Among the genes expressed in the photoreceptors and their synaptic terminals, and mGluR6 cascade and modulators, reduced expression of GNAT1, CACNA2D4 and NYX was observed by qRT-PCR in both carrier (n = 2) and affected (n = 2) retinas whereas CACNA1F was down-regulated only in the affecteds. Retinal morphology revealed normal cellular layers and structure, and electron microscopy showed normal rod spherules and synaptic ribbons. No difference from normal was observed by immunohistochemistry (IHC) for antibodies labeling rods, cones and their presynaptic terminals. None of the retinas showed any sign of stress. Selected proteins of mGluR6 cascade and its modulators were examined by IHC and showed that PKCα weakly labeled the rod bipolar somata in the affected, but intensely labeled axonal terminals that appeared thickened and irregular. Dendritic terminals of ON-bipolar cells showed increased Goα labeling. Both PKCα and Goα labeled the more prominent bipolar dendrites that extended into the OPL in affected but not normal retinas. Interestingly

  3. A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.

    PubMed

    Kondo, Mineo; Das, Gautami; Imai, Ryoetsu; Santana, Evelyn; Nakashita, Tomio; Imawaka, Miho; Ueda, Kosuke; Ohtsuka, Hirohiko; Sakai, Kazuhiko; Aihara, Takehiro; Kato, Kumiko; Sugimoto, Masahiko; Ueno, Shinji; Nishizawa, Yuji; Aguirre, Gustavo D; Miyadera, Keiko

    2015-01-01

    Congenital stationary night blindness (CSNB) is a non-progressive, clinically and genetically heterogeneous disease of impaired night vision. We report a naturally-occurring, stationary, autosomal recessive phenotype in beagle dogs with normal daylight vision but absent night vision. Affected dogs had normal retinas on clinical examination, but showed no detectable rod responses. They had "negative-type" mixed rod and cone responses in full-field ERGs. Their photopic long-flash ERGs had normal OFF-responses associated with severely reduced ON-responses. The phenotype is similar to the Schubert-Bornschein form of complete CSNB in humans. Homozygosity mapping ruled out most known CSNB candidates as well as CACNA2D4 and GNB3. Three remaining genes were excluded based on sequencing the open reading frame and intron-exon boundaries (RHO, NYX), causal to a different form of CSNB (RHO) or X-chromosome (NYX, CACNA1F) location. Among the genes expressed in the photoreceptors and their synaptic terminals, and mGluR6 cascade and modulators, reduced expression of GNAT1, CACNA2D4 and NYX was observed by qRT-PCR in both carrier (n = 2) and affected (n = 2) retinas whereas CACNA1F was down-regulated only in the affecteds. Retinal morphology revealed normal cellular layers and structure, and electron microscopy showed normal rod spherules and synaptic ribbons. No difference from normal was observed by immunohistochemistry (IHC) for antibodies labeling rods, cones and their presynaptic terminals. None of the retinas showed any sign of stress. Selected proteins of mGluR6 cascade and its modulators were examined by IHC and showed that PKCα weakly labeled the rod bipolar somata in the affected, but intensely labeled axonal terminals that appeared thickened and irregular. Dendritic terminals of ON-bipolar cells showed increased Goα labeling. Both PKCα and Goα labeled the more prominent bipolar dendrites that extended into the OPL in affected but not normal retinas. Interestingly

  4. [Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia].

    PubMed

    Galeeva, N M; Voevoda, M I; Spiridonova, M G; Stepanov, V A; Poliakov, A V

    2013-04-01

    Type-1recessive congenital methemoglobinemia (RCM) is a rare autosomal disease characterized by a deficiency of the soluble form of nicotineamide adenine dinucleotide (NADH)-cytochrome b5 reductase (b5R) and clinically manifests as cyanosis of skin and mucous membranes. In the Russian Federation, type-I RCM is widely disturbed in Yakutia due to the local founder effect. The molecular genetics cause of type-I RCM in Yakutia is mutation c.806C > T in the CYB5R3 gene. In this work we used 13 polymorphic markers, which flanking the CYB5R3 gene to establish the founder haplotype. The age of the mutation was estimated as about 285 +/- 135 years. In this work, we have evaluated the frequency of the c.806 C > T mutation in Yakutia, which averaged 55 : 1000 Yakuts. The calculated frequency of disease was 1: 1250 Yakuts. PMID:23866629

  5. Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems

    PubMed Central

    Iqbal, Zafar; Willemsen, Marjolein H.; Papon, Marie-Amélie; Musante, Luciana; Benevento, Marco; Hu, Hao; Venselaar, Hanka; Wissink-Lindhout, Willemijn M.; Vulto-van Silfhout, Anneke T.; Vissers, Lisenka E.L.M.; de Brouwer, Arjan P.M.; Marouillat, Sylviane; Wienker, Thomas F.; Ropers, Hans Hilger; Kahrizi, Kimia; Nadif Kasri, Nael; Najmabadi, Hossein; Laumonnier, Frédéric; Kleefstra, Tjitske; van Bokhoven, Hans

    2015-01-01

    We report on Dutch and Iranian families with affected individuals who present with moderate to severe intellectual disability and additional phenotypes including progressive tremor, speech impairment, and behavioral problems in certain individuals. A combination of exome sequencing and homozygosity mapping revealed homozygous mutations c.484G>A (p.Gly162Arg) and c.1898C>G (p.Pro633Arg) in SLC6A17. SLC6A17 is predominantly expressed in the brain, encodes a synaptic vesicular transporter of neutral amino acids and glutamate, and plays an important role in the regulation of glutamatergic synapses. Prediction programs and 3D modeling suggest that the identified mutations are deleterious to protein function. To directly test the functional consequences, we investigated the neuronal subcellular localization of overexpressed wild-type and mutant variants in mouse primary hippocampal neuronal cells. Wild-type protein was present in soma, axons, dendrites, and dendritic spines. p.Pro633Arg altered SLC6A17 was found in soma and proximal dendrites but did not reach spines. p.Gly162Arg altered SLC6A17 showed a normal subcellular distribution but was associated with an abnormal neuronal morphology mainly characterized by the loss of dendritic spines. In summary, our genetic findings implicate homozygous SLC6A17 mutations in autosomal-recessive intellectual disability, and their pathogenic role is strengthened by genetic evidence and in silico and in vitro functional analyses. PMID:25704603

  6. Rice xa13 Recessive Resistance to Bacterial Blight Is Defeated by Induction of the Disease Susceptibility Gene Os-11N3[W][OA

    PubMed Central

    Antony, Ginny; Zhou, Junhui; Huang, Sheng; Li, Ting; Liu, Bo; White, Frank; Yang, Bing

    2010-01-01

    The rice (Oryza sativa) gene xa13 is a recessive resistance allele of Os-8N3, a member of the NODULIN3 (N3) gene family, located on rice chromosome 8. Os-8N3 is a susceptibility (S) gene for Xanthomonas oryzae pv oryzae, the causal agent of bacterial blight, and the recessive allele is defeated by strains of the pathogen producing any one of the type III effectors AvrXa7, PthXo2, or PthXo3, which are all members of the transcription activator-like (TAL) effector family. Both AvrXa7 and PthXo3 induce the expression of a second member of the N3 gene family, here named Os-11N3. Insertional mutagenesis or RNA-mediated silencing of Os-11N3 resulted in plants with loss of susceptibility specifically to strains of X. oryzae pv oryzae dependent on AvrXa7 or PthXo3 for virulence. We further show that AvrXa7 drives expression of Os-11N3 and that AvrXa7 interacts and binds specifically to an effector binding element within the Os-11N3 promoter, lending support to the predictive models for TAL effector binding specificity. The result indicates that variations in the TAL effector repetitive domains are driven by selection to overcome both dominant and recessive forms of resistance to bacterial blight in rice. The finding that Os-8N3 and Os-11N3 encode closely related proteins also provides evidence that N3 proteins have a specific function in facilitating bacterial blight disease. PMID:21098734

  7. Simultaneous superior oblique tenotomy and inferior oblique recession in Brown's syndrome.

    PubMed

    Parks, M M; Eustis, H S

    1987-08-01

    The technique and results of simultaneous superior oblique tenotomy and 14-mm inferior oblique recession for true Brown's syndrome are presented for 16 eyes of 13 patients. A good or excellent result was achieved in 15 of 16 eyes (94%). Reoperation for overcorrection was not necessary; however, repeat tenotomy was required in two cases. Inferior oblique underaction was present in 12 of 16 eyes (75%) in the early postoperative period; however, elevation in adduction improved over time. At most recent examination, 92% of eyes demonstrated greater than 25 degrees elevation in adduction. Underaction of the superior oblique occurred in 3 of 16 eyes (19%). A simultaneous superior oblique tenotomy and inferior oblique recession is recommended in all patients selected to undergo surgery for true Brown's syndrome to prevent reoperation for iatrogenic superior oblique palsy.

  8. Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.

    PubMed Central

    Digilio, M C; Marino, B; Giannotti, A; Dallapiccola, B

    1997-01-01

    We report on three sibs born to healthy parents, one livebirth and two terminated pregnancies, presenting with a malformation complex characterised by conotruncal heart defect (CTHD), microphthalmia, genital anomalies, and facial dysmorphism. The recurrence of the association of CTHD, particularly truncus arteriosus, and microphthalmia in sibs has previously been reported in rare instances, but a correlation between the single descriptions has never been noted. CTHDs are included among the cardiac malformations characteristically associated with the group of syndromes caused by the microdeletion of chromosome 22q11, but no detectable hemizygosity has been found in our family. An autosomal recessive gene seems to be involved in syndromic patients with the combination of CTHD and microphthalmia. The map location of this gene is at present unknown, but autosomal recessive inheritance must be considered in genetic counselling of families with children presenting with this malformation complex. PMID:9391888

  9. State unemployment in recessions during 1991-2009 was linked to faster growth in Medicare spending.

    PubMed

    McInerney, Melissa Powell; Mellor, Jennifer M

    2012-11-01

    During the US recession of 2007-09, overall health care spending growth fell, but Medicare spending growth increased. Using state-level data from the period 1991-2009, we show that these divergent trends were also observed within states. Furthermore, increases in state unemployment rates were associated with higher Medicare spending per capita and increased hospital use by Medicare beneficiaries. For example, a one-percentage-point point rise in the unemployment rate was associated with a $40 (0.7 percent) increase in Medicare spending per capita. Our results suggest that economic downturns contribute to Medicare spending and use. One of many possible explanations may be that health care providers have greater capacity, inclination, and financial incentive to treat Medicare patients during recessions as a result of slackening demand from the non-Medicare population.

  10. State unemployment in recessions during 1991-2009 was linked to faster growth in Medicare spending.

    PubMed

    McInerney, Melissa Powell; Mellor, Jennifer M

    2012-11-01

    During the US recession of 2007-09, overall health care spending growth fell, but Medicare spending growth increased. Using state-level data from the period 1991-2009, we show that these divergent trends were also observed within states. Furthermore, increases in state unemployment rates were associated with higher Medicare spending per capita and increased hospital use by Medicare beneficiaries. For example, a one-percentage-point point rise in the unemployment rate was associated with a $40 (0.7 percent) increase in Medicare spending per capita. Our results suggest that economic downturns contribute to Medicare spending and use. One of many possible explanations may be that health care providers have greater capacity, inclination, and financial incentive to treat Medicare patients during recessions as a result of slackening demand from the non-Medicare population. PMID:23129677

  11. Scale-emergence of snowmelt runoff recession based on heterogeneous snow accumulation and melt

    NASA Astrophysics Data System (ADS)

    Luce, Charles; Tarboton, David; Clark, Martyn

    2016-04-01

    Snow drifts are usually seen as small elements in mountain landscapes; so are inconsistently considered in hydrologic modeling. Their small spatial representation in the landscape belies an outsize influence in the recession characteristics of mountain watersheds. Differential accumulation and melt of mountain snowpacks can shift center of spring runoff timing by months compared to expectations based on a uniform snowpack. Here we develop the quantification of melt and flow recession as an emergent characteristic from heterogeneity in snowpack accumulation and melt. While previous work has demonstrated the ties between differential accumulation and depletion of snowpacks, the importance of differential melt in concert with differential accumulation is less well explored. We develop a framework for showing the combined effects of joint spatial variability in accumulation and melt. Further, we relate the information to alternative methods for estimating snow depletion curves.

  12. Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy.

    PubMed

    Friedman, Bethany; Simpson, Kara; Tesi-Rocha, Carolina; Zhou, Delu; Palmer, Cheryl A; Suchy, Sharon F

    2014-04-01

    Nemaline myopathy (NM) is a genetically and clinically heterogeneous disorder resulting from a disruption of the thin filament proteins of the striated muscle sarcomere. The disorder is typically characterized by muscle weakness including the face, neck, respiratory, and limb muscles and is clinically classified based on the age of onset and severity. Mutations in the ACTA1 gene contribute to a significant proportion of NM cases. The majority of ACTA1 gene mutations are missense mutations causing autosomal dominant NM by producing an abnormal protein. However, approximately 10% of ACTA1 gene mutations are associated with autosomal recessive NM; these mutations are associated with loss of protein function. We report the first case of a large deletion in the ACTA1 gene contributing to autosomal recessive NM. This case illustrates the importance of understanding disease mechanisms at the molecular level to accurately infer the inheritance pattern and potentially aid with clinical management. PMID:24447884

  13. 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

  14. Oxidative Recession, Sulfur Release, and Al203 Spallation for Y-Doped Alloys

    NASA Technical Reports Server (NTRS)

    Smialek, James L.

    2001-01-01

    Second-order spallation phenomena have been noted for Y-doped Rene'N5 after long term oxidation at 1150 degrees C. The reason for this behavior has not been conclusively identified. A mass equivalence analysis has shown that the surface recession resulting from oxidation has the potential of releasing about 0.15 monolayer of sulfur for every 1 mg/sq cm of oxygen reacted for an alloy containing 5 ppmw of sulfur. This amount is significant in comparison to levels that have been shown to result in first-order spallation behavior for undoped alloys. Oxidative recession is therefore speculated to be a contributing source of sulfur and second-order spallation for Y-doped alloys.

  15. Shear-flow excitation mechanisms of recessed localized arc-filament plasma actuators

    NASA Astrophysics Data System (ADS)

    Kleinman, R. R.; Bodony, D. J.; Freund, J. B.

    2010-11-01

    Localized arc-filament plasma actuators, placed near the nozzle lip of a laboratory jet, have recently been demonstrated to have sufficient control authority to significantly excite the jet downstream [M. Samimy et al., J. Fluid Mech. 578, 305 (2007)]. This class of plasma actuator, which in this application is recessed in a small cavity near the nozzle lip, causes intense local heating. This heating is thought to be the root mechanism of its influence on the flow, but how this principally entropic thermal source couples with the vortical jet shear layer turbulence downstream is unclear. We investigate this using direct numerical simulations, which match the flow conditions of the corresponding experiment, including Reynolds number, but are two-dimensional to ease computational expense. Despite this obvious modeling approximation, the simulations include the key features of the laboratory system: a thin boundary layer, a plasma-like thermal source in a small recessed cavity, a nozzle lip, and a downstream free shear layer. Results are shown to match the temperature and near-field pressure measured in the laboratory actuators. It is found that the cavity, which was initially included to shield the actuator plasma from the flow, is essential for its action. Thermal expansion within the cavity leads to an ejection of fluid from it, which perturbs the boundary layer and the downstream mixing layer. There is a finite baroclinic torque, but its effects are relatively minor. An alternate actuator designed to mimic the pressure effects of the full actuator, without its concomitant thermal heating, is nearly as effective at exciting the shear layer. An actuator model without the cavity recess does not provide effective actuation. These results suggest that there is significant potential to optimize the actuation authority through design of cavity recesses that augment its effect.

  16. The use of ultrasound to isolate the gastrocnemius-soleus junction prior to gastrocnemius recession.

    PubMed

    Toomey, Eugene P; Seibert, Nicholas R

    2014-12-01

    Gastrocnemius recession has become a popular procedure to release isolated gastrocnemius tightness. Using visual anatomic landmarks alone to plan the incision can be deceiving. The use of ultrasound preoperatively has been highly reproducible in isolating the gastrocnemius-soleus junction in the authors' practice. This provides confidence for incision placement, a smaller incision, and isolated release of the gastrocnemius fascia while leaving the underlying soleus undisturbed.

  17. Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1

    PubMed Central

    LEE, JINHO; JUNG, SUNG-CHUL; HONG, YOUNG BIN; YOO, JEONG HYUN; KOO, HEASOO; LEE, JA HYUN; HONG, HYUN DAE; KIM, SANG-BEOM; CHUNG, KI WHA; CHOI, BYUNG-OK

    2016-01-01

    Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these autosomal dominant cases, only a few syndromic cases have been reported thus far with compound heterozygous OPA1 mutations, suggestive of either recessive or semi-dominant patterns of inheritance. The majority of these patients were diagnosed with Behr syndrome, characterized by optic atrophy, ataxia and peripheral neuropathy. The present study describes a 10-year-old boy with Behr syndrome presenting with early-onset severe optic atrophy, sensorimotor neuropathy, ataxia and congenital cataracts. He had optic atrophy and was declared legally blind at six years old. Electrophysiological, radiological, and histopathological findings were compatible with axonal sensorimotor polyneuropathy. At birth, he presented with a congenital cataract, which has not been previously described in patients with OPA1 mutations. Whole exome sequencing indicated a pair of novel compound heterozygous mutations: p.L620fs*13 (c.1857–1858delinsT) and p.R905Q (c.G2714A). Neither mutation was observed in controls (n=300), and thus, they were predicted to be pathogenic by multiple in silico analyses. The mutation sites were highly conserved throughout different vertebrate species. The patients parents did not have any ophthalmic or neurologic symptoms and the results of electrophysiological studies were normal, suggestive of an autosomal recessive pattern of inheritance. The present study identified novel compound heterozygous OPA1 mutations in a patient with recessive optic atrophy, sensorimotor neuropathy and congenital cataracts, indicating an expansion of the clinical spectrum of pathologies associated with OPA1 mutations. Thus, OPA1 gene screening is advisable in the workup of patients with recessive optic atrophy, particularly with Behr syndrome and cataracts. PMID:27150940

  18. Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.

    PubMed

    Rees, E; Kirov, G; Walters, J T; Richards, A L; Howrigan, D; Kavanagh, D H; Pocklington, A J; Fromer, M; Ruderfer, D M; Georgieva, L; Carrera, N; Gormley, P; Palta, P; Williams, H; Dwyer, S; Johnson, J S; Roussos, P; Barker, D D; Banks, E; Milanova, V; Rose, S A; Chambert, K; Mahajan, M; Scolnick, E M; Moran, J L; Tsuang, M T; Glatt, S J; Chen, W J; Hwu, H-G; Neale, B M; Palotie, A; Sklar, P; Purcell, S M; McCarroll, S A; Holmans, P; Owen, M J; O'Donovan, M C

    2015-01-01

    Genetic associations involving both rare and common alleles have been reported for schizophrenia but there have been no systematic scans for rare recessive genotypes using fully phased trio data. Here, we use exome sequencing in 604 schizophrenia proband-parent trios to investigate the role of recessive (homozygous or compound heterozygous) nonsynonymous genotypes in the disorder. The burden of recessive genotypes was not significantly increased in probands at either a genome-wide level or in any individual gene after adjustment for multiple testing. At a system level, probands had an excess of nonsynonymous compound heterozygous genotypes (minor allele frequency, MAF ⩽ 1%) in voltage-gated sodium channels (VGSCs; eight in probands and none in parents, P = 1.5 × 10(-)(4)). Previous findings of multiple de novo loss-of-function mutations in this gene family, particularly SCN2A, in autism and intellectual disability provide biological and genetic plausibility for this finding. Pointing further to the involvement of VGSCs in schizophrenia, we found that these genes were enriched for nonsynonymous mutations (MAF ⩽ 0.1%) in cases genotyped using an exome array, (5585 schizophrenia cases and 8103 controls), and that in the trios data, synaptic proteins interacting with VGSCs were also enriched for both compound heterozygosity (P = 0.018) and de novo mutations (P = 0.04). However, we were unable to replicate the specific association with compound heterozygosity at VGSCs in an independent sample of Taiwanese schizophrenia trios (N = 614). We conclude that recessive genotypes do not appear to make a substantial contribution to schizophrenia at a genome-wide level. Although multiple lines of evidence, including several from this study, suggest that rare mutations in VGSCs contribute to the disorder, in the absence of replication of the original findings regarding compound heterozygosity, this conclusion requires evaluation in a larger sample of trios. PMID:26196440

  19. Frontal recess surgery for diving-related frontal pain: case report.

    PubMed

    Jones, S E; Yung, M; Norris, A

    2001-03-01

    We report the case of a professional scuba diver who was unable to dive because he began experiencing severe frontal pain on descent. Following endoscopic surgery to open the frontal recess, the man was able to resume diving unrestricted by pain. We discuss the causes and treatment of this complaint, and we suggest that this might be considered a new indication for surgery in a limited number of cases.

  20. Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia

    PubMed Central

    Rees, E; Kirov, G; Walters, J T; Richards, A L; Howrigan, D; Kavanagh, D H; Pocklington, A J; Fromer, M; Ruderfer, D M; Georgieva, L; Carrera, N; Gormley, P; Palta, P; Williams, H; Dwyer, S; Johnson, J S; Roussos, P; Barker, D D; Banks, E; Milanova, V; Rose, S A; Chambert, K; Mahajan, M; Scolnick, E M; Moran, J L; Tsuang, M T; Glatt, S J; Chen, W J; Hwu, H-G; Faraone, Stephen V; Roe, Cheri A; Chandler, Sharon D; Liu, Chih-Min; Liu, Chen-Chung; Yeh, Ling-Ling; Ouyang, Wen-Chen; Chan, Hung-Yu; Chen, Chun-Ying; Neale, B M; Palotie, A; Sklar, P; Purcell, S M; McCarroll, S A; Holmans, P; Owen, M J; O'Donovan, M C

    2015-01-01

    Genetic associations involving both rare and common alleles have been reported for schizophrenia but there have been no systematic scans for rare recessive genotypes using fully phased trio data. Here, we use exome sequencing in 604 schizophrenia proband–parent trios to investigate the role of recessive (homozygous or compound heterozygous) nonsynonymous genotypes in the disorder. The burden of recessive genotypes was not significantly increased in probands at either a genome-wide level or in any individual gene after adjustment for multiple testing. At a system level, probands had an excess of nonsynonymous compound heterozygous genotypes (minor allele frequency, MAF ⩽1%) in voltage-gated sodium channels (VGSCs; eight in probands and none in parents, P=1.5 × 10−4). Previous findings of multiple de novo loss-of-function mutations in this gene family, particularly SCN2A, in autism and intellectual disability provide biological and genetic plausibility for this finding. Pointing further to the involvement of VGSCs in schizophrenia, we found that these genes were enriched for nonsynonymous mutations (MAF ⩽0.1%) in cases genotyped using an exome array, (5585 schizophrenia cases and 8103 controls), and that in the trios data, synaptic proteins interacting with VGSCs were also enriched for both compound heterozygosity (P=0.018) and de novo mutations (P=0.04). However, we were unable to replicate the specific association with compound heterozygosity at VGSCs in an independent sample of Taiwanese schizophrenia trios (N=614). We conclude that recessive genotypes do not appear to make a substantial contribution to schizophrenia at a genome-wide level. Although multiple lines of evidence, including several from this study, suggest that rare mutations in VGSCs contribute to the disorder, in the absence of replication of the original findings regarding compound heterozygosity, this conclusion requires evaluation in a larger sample of trios. PMID:26196440