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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. Critical points in the management of pseudohypoaldosteronism type 1.

    PubMed

    Güran, Tülay; Değirmenci, Serpil; Bulut, İpek K; Say, Aysun; Riepe, Felix G; Güran, Ömer

    2011-01-01

    Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we present a patient diagnosed as PHA-1 who had clinical and laboratory findings compatible with the diagnosis and had genetically proven autosomal recessive PHA-1. The patient received high doses of sodium supplementation and potassium-lowering therapies; however, several difficulties were encountered in the management of this case. The aim of this presentation was to point out the potential pitfalls in the treatment of such patients in the clinical practice and to recommend solutions. PMID:21750640

  6. Pseudohypoaldosteronism type 1: clinical features and management in infancy

    PubMed Central

    Amin, N; Alvi, N S; Barth, J H; Field, H P; Finlay, E; Tyerman, K; Frazer, S; Savill, G; Wright, N P; Makaya, T; Mushtaq, T

    2013-01-01

    Summary Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made. Type 1 PHA can be further classified into i) renal type 1 (autosomal dominant (AD)) and ii) multiple target organ defect/systemic type 1 (autosomal recessive (AR)). The aim of this case series was to characterise the mode of presentation, management and short-term clinical outcomes of patients with PHA type 1. Case notes of newly diagnosed infants presenting with PHA type 1 were reviewed over a 5-year time period. Seven patients were diagnosed with PHA type 1. Initial presentation ranged from 4 to 28 days of age. Six had weight loss as a presenting feature. All subjects had hyperkalaemia, hyponatraemia, with elevated renin and aldosterone levels. Five patients have renal PHA type 1 and two patients have systemic PHA type, of whom one has had genetic testing to confirm the AR gene mutation on the SCNN1A gene. Renal PHA type 1 responds well to salt supplementation, whereas management of patients with systemic PHA type 1 proves more difficult as they are likely to get frequent episodes of electrolyte imbalance requiring urgent correction. Learning points Patients with type 1 PHA are likely to present in the neonatal period with hyponatraemia, hyperkalaemia and metabolic acidosis and can be diagnosed by the significantly elevated plasma renin activity and aldosterone levels.The differential diagnosis of type 1 PHA includes adrenal disorders such as adrenal hypoplasia and congenital adrenal hyperplasia; thus, adrenal function including cortisol levels, 17-hydroxyprogesterone and a urinary steroid profile are required. Secondary (transient) causes of PHA may be due to urinary tract infections or renal anomalies; thus, urine

  7. 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

  8. 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

  9. Reducing αENaC expression in the kidney connecting tubule induces pseudohypoaldosteronism type 1 symptoms during K+ loading.

    PubMed

    Poulsen, Søren Brandt; Praetorius, Jeppe; Damkier, Helle H; Miller, Lance; Nelson, Raoul D; Hummler, Edith; Christensen, Birgitte Mønster

    2016-02-15

    Genetic inactivation of the epithelial Na(+) channel α-subunit (αENaC) in the renal collecting duct (CD) does not interfere with Na(+) and K(+) homeostasis in mice. However, inactivation in the CD and a part of the connecting tubule (CNT) induces autosomal recessive pseudohypoaldosteronism type 1 (PHA-1) symptoms in subjects already on a standard diet. In the present study, we further examined the importance of αENaC in the CNT. Knockout mice with αENaC deleted primarily in a part of the CNT (CNT-KO) were generated using Scnn1a(lox/lox) mice and Atp6v1b1::Cre mice. With a standard diet, plasma Na(+) concentration ([Na(+)]) and [K(+)], and urine Na(+) and K(+) output were unaffected. Seven days of Na(+) restriction (0.01% Na(+)) led to a higher urine Na(+) output only on days 3-5, and after 7 days plasma [Na(+)] and [K(+)] were unaffected. In contrast, the CNT-KO mice were highly susceptible to a 2-day 5% K(+) diet and showed lower food intake and relative body weight, lower plasma [Na(+)], higher fractional excretion (FE) of Na(+), higher plasma [K(+)], and lower FE of K(+). The higher FE of Na(+) coincided with lower abundance and phosphorylation of the Na(+)-Cl(-) cotransporter. In conclusion, reducing ENaC expression in the CNT induces clear PHA-1 symptoms during high dietary K(+) loading. PMID:26582762

  10. 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

  11. Generation and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene.

    PubMed

    Araki, Yuya; Rai, Tatemitsu; Sohara, Eisei; Mori, Takayasu; Inoue, Yuichi; Isobe, Kiyoshi; Kikuchi, Eriko; Ohta, Akihito; Sasaki, Sei; Uchida, Shinichi

    2015-01-01

    Pseudohypoaldosteronism type II (PHAII) is a hereditary hypertensive disease caused by mutations in four different genes: with-no-lysine kinases (WNK) 1 and 4, Kelch-like family member 3 (KLHL3), and cullin 3 (Cul3). Cul3 and KLHL3 form an E3 ligase complex that ubiquitinates and reduces the expression level of WNK4. PHAII-causing mutations in WNK4 and KLHL3 impair WNK4 ubiquitination. However, the molecular pathogenesis of PHAII caused by Cul3 mutations is unclear. In cultured cells and human leukocytes, PHAII-causing Cul3 mutations result in the skipping of exon 9, producing mutant Cul3 protein lacking 57 amino acids. However, whether this phenomenon occurs in the kidneys and is responsible for the pathogenesis of PHAII in vivo is unknown. We generated knock-in mice carrying a mutation in the C-terminus of intron 8 of Cul3, c.1207-1G>A, which corresponds to a PHAII-causing mutation in the human Cul3 gene. Heterozygous Cul3(G(-1)A/+) knock-in mice did not exhibit PHAII phenotypes, and the skipping of exon 9 was not evident in their kidneys. However, the level of Cul3 mRNA expression in the kidneys of heterozygous knock-in mice was approximately half that of wild-type mice. Furthermore, homozygous knock-in mice were nonviable. It suggested that the mutant allele behaved like a knockout allele and did not produce Cul3 mRNA lacking exon 9. A reduction in Cul3 expression alone was not sufficient to develop PHAII in the knock-in mice. Our findings highlighted the pathogenic role of mutant Cul3 protein and provided insight to explain why PHAII-causing mutations in Cul3 cause kidney-predominant PHAII phenotypes. PMID:26490675

  12. A New Locus on Chromosome 12p13.3 for Pseudohypoaldosteronism Type II, an Autosomal Dominant Form of Hypertension

    PubMed Central

    Disse-Nicodème, Sandra; Achard, Jean-Michel; Desitter, Isabelle; Houot, Anne-Marie; Fournier, Albert; Corvol, Pierre; Jeunemaitre, Xavier

    2000-01-01

    Pseudohypoaldosteronism type II (PHA2) is a rare autosomal dominant form of volume-dependent low-renin hypertension characterized by hyperkalemia and hyperchloremic acidosis but also by a normal glomerular filtration rate. These features, together with the correction of blood pressure and metabolic abnormalities by small doses of thiazide diuretics, suggest a primary renal tubular defect. Two loci have previously been mapped at low resolution to chromosome 1q31-42 (PHA2A) and 17p11-q21 (PHA2B). We have now analyzed a new, large French pedigree, in which 12 affected members over three generations confirmed the autosomal dominant inheritance. Affected subjects had hypertension together with long-term hyperkalemia (range 5.2–6.2 mmol/liter), hyperchloremia (range: 100-109 mmol/liter), normal plasma creatinine (range: 63–129 mmol/liter) and low renin levels. Genetic linkage was excluded for both PHA2A and PHA2B loci (all LOD scores Z<-3.2 at recombination fraction [θ] 0), as well as for the thiazide-sensitive sodium-chloride cotransporter gene. A genome-wide scan using 383 microsatellite markers showed a strong linkage with the chromosome 12p13 region (maximum LOD score Z=6.18, θ=0, at D12S99). Haplotype analysis using 10 additional polymorphic markers led to a minimum 13-cM interval flanked by D12S1652 and D12S336, thus defining a new PHA2C locus. Analysis of two obvious candidate genes (SCNN1A and GNb3) located within the interval showed no deleterious mutation. In conclusion, we hereby demonstrate further genetic heterogeneity of this Mendelian form of hypertension and identify a new PHA2C locus, the most compelling and precise linkage interval described to date. PMID:10869238

  13. 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 ...

  14. Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant.

    PubMed

    Javed, Asma; Leonard, Jennifer M; Cramer, Carl; Kumar, Seema; Kirmani, Salman; Brands, Chad K

    2013-01-01

    Pseudohypoaldosteronism type 1 (PHA-1) is a rare salt-wasting syndrome caused by a peripheral resistance to aldosterone. Here, we describe an unusual presentation of the autosomal dominant PHA-1 featuring bilateral pneumothoraces at birth, thrombocytosis in infancy, and hypercalcemia in addition to the well-described findings of hyponatremia, hyperkalemia, and failure to thrive. These findings contribute to the limited case descriptions of PHA-1 and may suggest additional diagnostic considerations in a neonate presenting with hyperkalemia, hyponatremia, and failure to thrive. PMID:23327809

  15. Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes

    PubMed Central

    Jeong, Hyun Ah; Park, Yoon Kyoung; Jung, Yeong Sang; Nam, Myung-Hyun; Nam, Hyo-Kyoung; Lee, Kee Hyoung

    2015-01-01

    Hyponatremia and hyperkalemia in infancy can be attributed to various causes, originating from a variety of renal and genetic disorders. Pseudohypoaldosteronism type 1 (PHA1) is one of these disorders, causing mineralocorticoid resistance that results in urinary salt wasting, failure to thrive, metabolic acidosis, and dehydration. PHA1 is heterogeneous in etiology. Inactivating mutations in the NR3C2 gene (4q31.1), which encodes the mineralocorticoid receptor, causes a less severe autosomal dominant form that is restricted to the kidney, while mutations in the amiloride-sensitive epithelial sodium channel gene (alpha subunit=SCNN1A, 12p13; beta subunit=SCNN1b, 16p12.2-p12.1; gamma subunit=SCNN1G, 16p12) causes a more severe autosomal recessive form, which has systemic effects. Here we report a neonatal case of kidney restricted PHA1 (renal type of PHA1) who first showed laboratory abnormalities before obvious PHA1 manifestations, with two functional polymorphisms in the NR3C2 gene. This is the second genetically confirmed case in Korea and the first to show functional polymorphisms that have previously been reported in the literature. PMID:26817011

  16. Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia.

    PubMed

    Attia, Najya A; Marzouk, Yousef I

    2016-01-01

    Context. Pseudohypoaldosteronism type 1 (PHA1) is a life-threatening disease that causes severe hyperkalemia and cardiac arrest if not treated appropriately or if diagnosis is missed. Objective. To report a case of a newborn with vomiting and lethargy, ultimately diagnosed with pseudohypoaldosteronism. Patient. This case presented to the ED at an age of 14 days in hypovolemic shock. There was a family history of sudden infant death, her sister who was diagnosed with CAH and passed away at 3 months of age despite regular hormone replacement. Our patient had cardiac arrest in ED, due to hyperkalemia; while receiving fluid boluses, cardiopulmonary resuscitation was initiated. After stabilization, diagnostic workup demonstrated persistently low sodium, acidosis, and high potassium, which required peritoneal dialysis. Based on these findings, the patient was diagnosed with CAH. It turned out later that the patient had PHA1. Two years later, the patient had a new sibling with the same disease diagnosed at birth and started immediately on treatment without any complication. Conclusions and Outcome. This case highlights the significant diagnostic and therapeutic challenges in treating children with PHA1. Adrenal crisis is not always CAH; delayed diagnosis can lead to complication and even death. The presence of high plasma renin activity, aldosterone, and cortisol, along with the presence of hyponatremia and hyperkalemia, established the diagnosis of PHA type 1 and ruled out CAH. PMID:26904317

  17. Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia

    PubMed Central

    Attia, Najya A.; Marzouk, Yousef I.

    2016-01-01

    Context. Pseudohypoaldosteronism type 1 (PHA1) is a life-threatening disease that causes severe hyperkalemia and cardiac arrest if not treated appropriately or if diagnosis is missed. Objective. To report a case of a newborn with vomiting and lethargy, ultimately diagnosed with pseudohypoaldosteronism. Patient. This case presented to the ED at an age of 14 days in hypovolemic shock. There was a family history of sudden infant death, her sister who was diagnosed with CAH and passed away at 3 months of age despite regular hormone replacement. Our patient had cardiac arrest in ED, due to hyperkalemia; while receiving fluid boluses, cardiopulmonary resuscitation was initiated. After stabilization, diagnostic workup demonstrated persistently low sodium, acidosis, and high potassium, which required peritoneal dialysis. Based on these findings, the patient was diagnosed with CAH. It turned out later that the patient had PHA1. Two years later, the patient had a new sibling with the same disease diagnosed at birth and started immediately on treatment without any complication. Conclusions and Outcome. This case highlights the significant diagnostic and therapeutic challenges in treating children with PHA1. Adrenal crisis is not always CAH; delayed diagnosis can lead to complication and even death. The presence of high plasma renin activity, aldosterone, and cortisol, along with the presence of hyponatremia and hyperkalemia, established the diagnosis of PHA type 1 and ruled out CAH. PMID:26904317

  18. Compact light source performance in recessed type luminaires

    SciTech Connect

    Hammer, E.E.

    1998-11-01

    Photometric comparisons were made with an indoor, recessed, type luminaire using incandescent, high intensity discharge and compact fluorescent lamps. The test results show substantial performance advantages, as expected, for the discharge light sources where the efficacy gains can be in the order for 400% even when including the ballast losses associated with the discharge lamps. The candlepower distribution patterns emerging from these luminaries are also different from those associated with the baseline incandescent lamps, and which are in some ways, even more desirable from a uniformity of illuminance perspective. A section on fluorescent lamp starting is also included which describes a system having excellent starting characteristics in terms of electrode starting temperature (RH/RC technique), proper operating frequency to minimize unwanted IR interactions, and satisfactory current crest factor values to help insure life performance.

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

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ...) SUBDIVISION AND STABILITY SPECIAL RULES PERTAINING TO VESSELS CARRYING PASSENGERS Subdivision and Damage Stability § 171.067 Treatment of stepped and recessed bulkheads in Type I subdivision. (a) For the...

  1. 46 CFR 171.073 - Treatment of stepped and recessed bulkheads in Type II subdivision.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ...) SUBDIVISION AND STABILITY SPECIAL RULES PERTAINING TO VESSELS CARRYING PASSENGERS Subdivision and Damage Stability § 171.073 Treatment of stepped and recessed bulkheads in Type II subdivision. (a) A...

  2. 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 subdivision. 171.073 Section 171.073 Shipping COAST GUARD, DEPARTMENT OF HOMELAND SECURITY (CONTINUED) SUBDIVISION AND STABILITY SPECIAL RULES PERTAINING TO VESSELS CARRYING PASSENGERS Large Vessels § 171.073 Treatment of stepped and...

  3. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

    PubMed

    Clarke, Nigel F; Waddell, Leigh B; Cooper, Sandra T; Perry, Margaret; Smith, Robert L L; Kornberg, Andrew J; Muntoni, Francesco; Lillis, Suzanne; Straub, Volker; Bushby, Kate; Guglieri, Michela; King, Mary D; Farrell, Michael A; Marty, Isabelle; Lunardi, Joel; Monnier, Nicole; North, Kathryn N

    2010-07-01

    The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers. To investigate whether mutations in RYR1 are a cause of CFTD we sequenced RYR1 in seven CFTD families in whom the other known causes of CFTD had been excluded. We identified compound heterozygous changes in the RYR1 gene in four families (five patients), consistent with autosomal recessive inheritance. Three out of five patients had ophthalmoplegia, which may be the most specific clinical indication of mutations in RYR1. Type 1 fibers were at least 50% smaller, on average, than type 2 fibers in all biopsies. Recessive mutations in RYR1 are a relatively common cause of CFTD and can be associated with extreme fiber size disproportion. PMID:20583297

  4. Type VII Collagen Replacement Therapy in Recessive Dystrophic Epidermolysis Bullosa-How Much, How Often?

    PubMed

    South, Andrew P; Uitto, Jouni

    2016-06-01

    Recessive dystrophic epidermolysis bullosa is a devastating blistering disease caused by mutations in the COL7A1 gene, which encodes type VII collagen, the major component of anchoring fibrils. The anchoring fibrils in patients with recessive dystrophic epidermolysis bullosa can be morphologically altered, reduced in number, or absent entirely. There is no specific treatment for this disease, but recent advances in gene, protein replacement, or cell-based therapies, with the purpose of delivering functional type VII collagen to the skin, have shown encouraging results in both preclinical and clinical settings. One critical issue is the stability of type VII collagen in anchoring fibrils, which will ultimately determine the dose and frequency of administration of the missing protein. Kühl et al. attempted to determine the half-life of type VII collagen in the skin, tongue, and esophagus of genetically altered mice that express type VII collagen constitutively, but with its expression abrogated by genetic manipulation. Their results revealed a half-life much shorter than previously anticipated, some 30 days. These findings have implications for strategies to be used for protein replacement therapy, and they also suggest that the basement membrane components at the dermal-epidermal junction are subject to ongoing remodeling and turnover. PMID:27212645

  5. 46 CFR 171.067 - Treatment of stepped and recessed bulkheads in Type I subdivision.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 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...

  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. Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.

    PubMed

    Massé, M; Cserhalmi-Friedman, P B; Falanga, V; Celebi, J T; Martinez-Mir, A; Christiano, A M

    2005-05-01

    In this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G-->A transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G-->A. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family. PMID:15807692

  8. Comparative evaluation of envelope type of advanced flap with and without type I collagen membrane (NEOMEM™) in the treatment of multiple buccal gingival recession defects: A clinical study

    PubMed Central

    Gupta, Priyanka; Gupta, Harinder

    2014-01-01

    Background: The aim of this study is to compare and evaluate the clinical outcome of the envelope-type of coronally advanced flap (CAF) alone versus envelope type of coronally advanced flap plus type I collagen membrane (NEOMEM) in the treatment of multiple buccal gingival recessions, using the split mouth study. Materials and Methods: Ten patients in the age group of 20-50 years showing bilateral gingival recessions were treated. The defects in each patient were randomly assigned as Group A, which were treated with the envelope type of CAF, and those in Group B were treated with envelope type of CAF along with the Type I collagen membrane (NEOMEM). The recession depth (RD), probing depth (PD), clinical attachment level (CAL), and width of the keratinized tissue (KT) were measured at baseline, at three and six month intervals. Results: Forty-six Miller's class I and II gingival recessions were treated. In the CAF + Type I collagen membrane (NEOMEM)-treated (Group B) sites the baseline gingival recession was 2.34 ± 0.48 mm, while in the CAFtreated (Group A) sites it was 2.52 ± 0.84 mm. Both the treatments resulted in significant recession depth reduction (P < 0.001), but the reduction was significantly greater (P < 0.01) for Group B than Group A. The probing depth changes were significant (P < 0.01) for both groups, but the difference was nonsignificant. Similarly, a significant gain of CAL was seen in Group B (2.23 ± 0.75 mm, P < 0.001) as well as in group A (1.60 ± 0.86 mm, P < 0.001) showing a significant difference (P < 0.01) between the two groups. The width of keratinized tissue was also significantly (P < 0.001) increased in both groups, but the increase was significantly greater (P < 0.001) in group B (2.30 ± 1.06 mm) than in group A (1.21 ± 0.67 mm). Conclusion: The envelope type of CAF along with Type I collagen membrane (NEOMEM) was more effective than envelope type of CAF alone, in producing root coverage in multiple gingival recession defects

  9. 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

  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. 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.

  12. 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

  13. Azygoesophageal recess.

    PubMed

    Ravenel, James G; Erasmus, Jeremy J

    2002-07-01

    Knowledge of the normal radiologic appearance and manifestations of disease in the azygoesophageal recess can facilitate the detection and diagnosis of intrathoracic disease. The azygoesophageal recess is located lateral or posterior to the esophagus and anterior to the spine. It extends from the anterior turn of the azygous vein to the aortic hiatus. The configuration of the azygoesophageal recess is normally a smooth arc convex to the left. Because the right lung extends into the recess, pathology in this region can often be detected radiographically and typically manifests as increased opacity and/or as a contour abnormality. In adults, convexity directed to the right and immediately below the level of the azygous vein on a frontal radiograph is abnormal and requires further evaluation. PMID:12082374

  14. Sex-linked recessive

    MedlinePlus

    Inheritance - sex-linked recessive; Genetics - sex-linked recessive; X-linked recessive ... X-linked recessive diseases usually occur in males. Males have only one X chromosome. A single recessive ...

  15. 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.

  16. 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

  17. Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa

    SciTech Connect

    Hovnanian, A.; Hilal, L.; Goossens, M. ); Blanchet-Bardon, C.; Prost, Y. de ); Christiano, A.M.; Uitto, J. )

    1994-08-01

    The generalized mutilating form of recessive dystrophic epidermolysis bullosa (i.e., the Hallopeau-Siemens type; HS-RDEB) is a life-threatening disease characterized by extreme mucocutaneous fragility associated with absent or markedly altered anchoring fibrils (AF). Recently, the authors reported linkage between HS-RDEB and the type VII collagen gene (COL7A1), which encodes the major component of AF. In this study, they investigated 52 unrelated HS-RDEB patients and 2 patients with RDEB inversa for the presence, at CpG dinucleotides, of mutations changing CGA arginine codons to premature stop codons TGA within the COL7A1 gene. Eight exons containing 10 CGA codons located in the amino-terminal domain of the COL7A1 gene were studied. Mutation analysis was performed using denaturing gradient gel electrophoresis of PCR-amplified genomic fragments. Direct sequencing of PCR-amplified products with altered electrophoretic mobility led to the characterization of three premature stop codons, each in a single COL7A1 allele, in four patients. Two patients (one affected with HS-RDEB and the other with RDEB inversa) have the same C-to-T transition at arginine codon 109. Two other HS-RDEB patients have a C-to-T transition at arginine 1213 and 1216, respectively. These nonsense mutations predict the truncation of [approximately]56%-92% of the polypeptide, including the collagenous and the noncollagenous NC-2 domains. On the basis of linkage analysis, which showed no evidence for locus heterogeneity in RDEB, it is expected that these patients are compound heterozygotes and have additional mutations on the other COL7A1 allele, leading to impaired AF formation. These results indicate that stop mutations within the COL7A1 gene can underlie both HS-RDEB and RDEB inversa, thus providing further evidence for the implication of this gene in RDEB. 46 refs., 3 figs., 1 tab.

  18. Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.

    PubMed

    Muhammad, Emad; Leventhal, Neta; Parvari, Galit; Hanukoglu, Aaron; Hanukoglu, Israel; Chalifa-Caspi, Vered; Feinstein, Yael; Weinbrand, Jenny; Jacoby, Harel; Manor, Esther; Nagar, Tal; Beck, John C; Sheffield, Val C; Hershkovitz, Eli; Parvari, Ruti

    2011-04-01

    Genetic disorders of excessive salt loss from sweat glands have been observed in pseudohypoaldosteronism type I (PHA) and cystic fibrosis that result from mutations in genes encoding epithelial Na+ channel (ENaC) subunits and the transmembrane conductance regulator (CFTR), respectively. We identified a novel autosomal recessive form of isolated salt wasting in sweat, which leads to severe infantile hyponatremic dehydration. Three affected individuals from a small Bedouin clan presented with failure to thrive, hyponatremic dehydration and hyperkalemia with isolated sweat salt wasting. Using positional cloning, we identified the association of a Glu143Lys mutation in carbonic anhydrase 12 (CA12) with the disease. Carbonic anhydrase is a zinc metalloenzyme that catalyzes the reversible hydration of carbon dioxide to form a bicarbonate anion and a proton. Glu143 in CA12 is essential for zinc coordination in this metalloenzyme and lowering of the protein-metal affinity reduces its catalytic activity. This is the first presentation of an isolated loss of salt from sweat gland mimicking PHA, associated with a mutation in the CA12 gene not previously implicated in human disorders. Our data demonstrate the importance of bicarbonate anion and proton production on salt concentration in sweat and its significance for sodium homeostasis. PMID:21184099

  19. 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…

  20. Gastrocnemius recession.

    PubMed

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

    2014-12-01

    The Grand Rapids Arch Collapse classifications create a novel system for categorizing and correlating numerous common foot and ankle conditions related to a falling arch. The algorithm for treating these conditions is exceptionally replicable and has excellent outcomes. Gastrocnemius equinus diagnosis plays a crucial role in the pathology of arch collapse. A contracture of the gastrocnemius muscle is increasingly recognized as the cause of several foot and ankle conditions. The authors have expanded their indications for gastrocnemius recession to include arch pain without radiographic abnormality, calcaneus apophysitis, plantar fasciitis/fibromas, Achilles tendonosis, early-onset diabetic Charcot arthropathy, and neuropathic forefoot ulcers. PMID:25456721

  1. Disruption of the β subunit of the epithelial Na+ channel in mice: Hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype

    PubMed Central

    McDonald, Fiona J.; Yang, Baoli; Hrstka, Ron F.; Drummond, Heather A.; Tarr, Deirdre E.; McCray, Paul B.; Stokes, John B.; Welsh, Michael J.; Williamson, Roger A.

    1999-01-01

    The epithelial Na+ channel (ENaC) is composed of three homologous subunits: α, β and γ. We used gene targeting to disrupt the β subunit gene of ENaC in mice. The βENaC-deficient mice showed normal prenatal development but died within 2 days after birth, most likely of hyperkalemia. In the −/− mice, we found an increased urine Na+ concentration despite hyponatremia and a decreased urine K+ concentration despite hyperkalemia. Moreover, serum aldosterone levels were increased. In contrast to αENaC-deficient mice, which die because of defective lung liquid clearance, neonatal βENaC deficient mice did not die of respiratory failure and showed only a small increase in wet lung weight that had little, if any, adverse physiologic consequence. The results indicate that, in vivo, the β subunit is required for ENaC function in the renal collecting duct, but, in contrast to the α subunit, the β subunit is not required for the transition from a liquid-filled to an air-filled lung. The phenotype of the βENaC-deficient mice is similar to that of humans with pseudohypoaldosteronism type 1 and may provide a useful model to study the pathogenesis and treatment of this disorder. PMID:9990092

  2. 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

  3. Autosomal recessive cerebellar ataxias

    PubMed Central

    Palau, Francesc; Espinós, Carmen

    2006-01-01

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

  4. 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

  5. Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients.

    PubMed

    Ryoo, Y W; Kim, B C; Lee, K S

    2001-06-01

    In recent years, the molecular basis for the main subtypes of epidermolysis bullosa (EB) has been elucidated with pathogenetic mutations delineated in ten different genes encoding structural components of the dermal-epidermal junction. Both the autosomal dominant and recessive forms of dystrophic EB (DEB) is caused by mutations in the COL7A1 gene. Type VII collagen is a major component of anchoring fibrils, structural elements that stabilize the attachment of the basement membrane to underlying dermis. Recent delineation of the exon-intron organization of the COL7A1 gene provided the basis for the comprehensive design of PCR primer pairs that amplified exons in genomic DNA by placing the primers on the flanking introns. A number of COL7A1 mutations have been reported and some genotype-phenotype correlations are starting to emerge. In this study, we examined mutational analyses from three Korean patients with recessive dystrophic EB (RDEB) mitis. We designed and optimized primers according to the previously reported sequences. Such PCR amplification products can be examined by electrophoretic scanning technique, CSGE heteroduplex analyses. Utilizing heteroduplex analyses, we have identified a number of sequence variants in COL7A1 both in unaffected individuals and in patients with M-RDEB. Mutation detection of the COL7A1 gene revealed six allelic mutations (V6677E, P6685S, Y3749S, P6084S, P6695R and G6697C). We suggest that the full length of type VII collagen polypeptide are synthesized, but those missense mutations, that may affect a critical amino acid, can alter the conformation of the protein and interferes with the assembly and packing of type VII collagen molecules into anchoring fibrils. Immunohistochemical study of skin biopsies by use of anti-type VII collagen antibody showed markedly reduced staining and presence of a dermo/epidermal cleavage. This is the first report of a COL7A1 mutation study in DEB from Korean patients. We hope that these data

  6. 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.

  7. 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.

  8. [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

  9. Intravenously Administered Recombinant Human Type VII Collagen Derived from Chinese Hamster Ovary Cells Reverses the Disease Phenotype in Recessive Dystrophic Epidermolysis Bullosa Mice.

    PubMed

    Hou, Yingping; Guey, Lin T; Wu, Timothy; Gao, Robert; Cogan, Jon; Wang, Xinyi; Hong, Elizabeth; Ning, Weihuang Vivian; Keene, Douglas; Liu, Nan; Huang, Yan; Kaftan, Craig; Tangarone, Bruce; Quinones-Garcia, Igor; Uitto, Jouni; Francone, Omar L; Woodley, David T; Chen, Mei

    2015-12-01

    Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited disorder characterized by skin fragility, blistering, and multiple skin wounds with no currently approved or consistently effective treatment. It is due to mutations in the gene encoding type VII collagen (C7). Using recombinant human C7 (rhC7) purified from human dermal fibroblasts (FB-rhC7), we showed previously that intravenously injected rhC7 distributed to engrafted RDEB skin, incorporated into its dermal-epidermal junction (DEJ), and reversed the RDEB disease phenotype. Human dermal fibroblasts, however, are not used for commercial production of therapeutic proteins. Therefore, we generated rhC7 from Chinese hamster ovary (CHO) cells. The CHO-derived recombinant type VII collagen (CHO-rhC7), similar to FB-rhC7, was secreted as a correctly folded, disulfide-bonded, helical trimer resistant to protease degradation. CHO-rhC7 bound to fibronectin and promoted human keratinocyte migration in vitro. A single dose of CHO-rhC7, administered intravenously into new-born C7-null RDEB mice, incorporated into the DEJ of multiple skin sites, tongue and esophagus, restored anchoring fibrils, improved dermal-epidermal adherence, and increased the animals' life span. Furthermore, no circulating or tissue-bound anti-C7 antibodies were observed in the mice. These data demonstrate the efficacy of CHO-rhC7 in a preclinical murine model of RDEB. PMID:26203639

  10. [Gingival recessions and orthodontics].

    PubMed

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

    2015-11-01

    Gingival recessions represent the most visible periodontal disease. The prevalence of gingival recessions is high. The root surface is literally exposed to negative influences such as erosion, abrasion, discoloration and decay. Moreover, gingival recessions can affect the quality of life by increased thermal sensitivity and reduced dento-gingival aesthetics. The aetiology of gingival recessions is complex and considered to be multifactorial. In order to prevent the development of gingival recessions during and after orthodontic treatment, several factors should be taken into account, among which maintenance of optimal oral hygiene and respect for the 'biological envelope' are decisive. Once gingival recessions have developed, orthodontic therapy can play a positive role in their treatment. PMID:26569002

  11. 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.

  12. 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

  13. A VARIANT OF NESPRIN1 GIANT DEVOID OF KASH DOMAIN UNDERLIES THE MOLECULAR ETIOLOGY OF AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA TYPE I

    PubMed Central

    Razafsky, David; Hodzic, Didier

    2015-01-01

    Nonsense mutations across the whole coding sequence of Syne1/ Nesprin1 have been linked to Autosomal Recessive Cerebellar Ataxia Type I (ARCA1). However, nothing is known about the molecular etiology of this late-onset debilitating pathology. In this work, we report that Nesprin1 giant is specifically expressed in CNS tissues. We also identified a CNS-specific splicing event that leads to the abundant expression of a KASH-LESS variant of Nesprin1giant (KLNes1g) in the cerebellum. KLNes1g displayed a noncanonical localization at glomeruli of cerebellar mossy fibers whereas Nesprin2 exclusively decorated the nuclear envelope of all cerebellar neurons. In immunogold electron microscopy, KLNes1g colocalized both with synaptic vesicles within mossy fibers and with dendritic membranes of cerebellar granule neurons. We further identified vesicle- and membrane-associated proteins in KLNes1g immunoprecipitates. Together, our results suggest that the loss of function of KLNes1g resulting from Nesprin1 nonsense mutations underlie the molecular etiology of ARCA1. PMID:25843669

  14. More Recess Time, Please!

    ERIC Educational Resources Information Center

    Chang, Rong; Coward, Fanni Liu

    2015-01-01

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

  15. 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)…

  16. 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…

  17. 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…

  18. Recess Makes Kids Smarter

    ERIC Educational Resources Information Center

    Adams, Caralee

    2011-01-01

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

  19. 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

  20. 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…

  1. Educational Finance in Recession.

    ERIC Educational Resources Information Center

    Lewin, Keith

    1986-01-01

    Discusses two interacting sources limiting educational expenditures in developing nations in light of the impact of the global economic recession: (1) factors affecting overall levels of public expenditures and (2) factors affecting educational priority in the national budget. Offers requirements for an effective response to these challenges. (TRS)

  2. 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)

  3. Are we thinking straight about groundwater recession?

    NASA Astrophysics Data System (ADS)

    Cuthbert, M. O.

    2013-12-01

    By exploring what governs the form of groundwater head recession in idealised and real aquifers, it will be shown that the analysis of groundwater recessions is a powerful but underused way of gaining insight into the hydrologic functioning of an aquifer from local to regional scales. It is commonly assumed that groundwater head recession in aquifers will take exponential form. However, here it is demonstrated that ideal regional aquifers should, given enough time between recharge events, actually develop through three distinct phases of recession: (1) in early times the groundwater recession should take an almost straight line form with a rate approximately equal to the long term recharge rate divided by the specific yield. The length of this phase can be estimated from a new analytical expression, which depends on the aquifer diffusivity, length scale and the position of the monitoring point, (2) a transitional phase then leads to, (3) an exponential phase after some critical time which is described by an existing analytical expression which is independent of the position of the monitoring point. Further analysis reveals that major aquifers in a state of periodic quasi-steady state are expected to have rates of net groundwater drainage which deviate little from the average rate of groundwater recharge. To back up these theoretical considerations, a range of real groundwater hydrographs will be presented which demonstrate the characteristic behaviour and interactions of groundwater flow systems interacting at local to regional scales. Where groundwater declines are observed in nature to have a quasi-exponential form, this may be diagnostic of particular types of aquifer properties and/or boundary effects such as: storage changes due to pumping, proximity to drainage boundaries, variations in transmissivity with hydraulic head, and variations in specific yield with depth. Furthermore, 'non-equilibrium' flow at a range of spatial and temporal scales helps explain

  4. 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.

  5. 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. PMID:22143980

  6. 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

  7. 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…

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

    PubMed Central

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

    2012-01-01

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

  9. 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

  10. [Etiology of gingival recessions].

    PubMed

    Kleber, B M; Schenk, H J

    1989-11-01

    About every third patient of our department suffers from gingival recessions (g. r.): 1980, 1985, 1986, 1987 altogether 1039 patients from 4022. People at the age of 20-25 years are mainly affected: 44.4% of these patients in the age-group of 20-25 years suffer from g. r., 28.3% of patients suffering from l.P.a. are 20-25 years old. Patients diseased with g. r. (N = 60) show functional disturbances (79% at the 1st bicuspid, 72% at the 2nd bicuspid) during their occlusion movements to a great extent. Patients afflected by g.r. (N = 20) show in comparison to healthy people a smaller diameter of the canin's apical basis both in upper and lower jaw, a smaller circumference of the alveolar crest as well as an upper canin-crown which is turned out from the teeth arcus in a more labial direction. Prevention of g. r. involves individual oral health education to protect the vestibular gingiva from chronic brushing-trauma, an early follow-up, and a functional adjustment. PMID:2638999

  11. KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

    PubMed

    Vyas, Bijal; Puri, Ratna D; Namboodiri, Narayanan; Nair, Mohan; Sharma, Deepak; Movva, Sireesha; Saxena, Renu; Bohora, Shomu; Aggarwal, Neeraj; Vora, Amit; Kumar, Jatinder; Singh, Tarandeep; Verma, Ishwar C

    2016-06-01

    Long QT syndrome type 1 (LQT1) is the most common type of all Long QT syndromes (LQTS) and occurs due to mutations in KCNQ1. Biallelic mutations with deafness is called Jervell and Lange-Nielsen syndrome (JLNS) and without deafness is autosomal recessive Romano-Ward syndrome (AR RWS). In this prospective study, we report biallelic mutations in KCNQ1 in Indian patients with LQT1 syndrome. Forty patients with a clinical diagnosis of LQT1 syndrome were referred for molecular testing. Of these, 18 were excluded from the analysis as they did not fulfill the inclusion criteria of broad T wave ECG pattern of the study. Direct sequencing of KCNQ1 was performed in 22 unrelated probands, parents and at-risk family members. Mutations were identified in 17 patients, of which seven had heterozygous mutations and were excluded in this analysis. Biallelic mutations were identified in 10 patients. Five of 10 patients did not have deafness and were categorized as AR RWS, the rest being JLNS. Eight mutations identified in this study have not been reported in the literature and predicted to be pathogenic by in silico analysis. We hypothesize that the homozygous biallelic mutations identified in 67% of families was due to endogamous marriages in the absence of consanguinity. This study presents biallelic gene mutations in KCNQ1 in Asian Indian patients with AR JLNS and RWS. It adds to the scant worldwide literature of mutation studies in AR RWS. © 2016 Wiley Periodicals, Inc. PMID:27041150

  12. 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…

  13. 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)…

  14. 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

  15. Geomorphological origin of recession curves

    NASA Astrophysics Data System (ADS)

    Biswal, Basudev; Marani, Marco

    2010-12-01

    We identify a previously undetected link between the river network morphology and key recession curves properties through a conceptual-physical model of the drainage process of the riparian unconfined aquifer. We show that the power-law exponent, α, 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. Using Digital Terrain Models and daily discharge observations from 67 US basins we find that geomorphologic α estimates match well the values obtained from recession curves analyses. Finally, we argue that the link between recession flows and network morphology points to an important role of low-flow discharges in shaping the channel network.

  16. Dominant-and-recessive epistasis in a homeotic mosquito mutant.

    PubMed

    Bhalla, S C

    1976-12-01

    Following selection for 15 generations a pure strain of a homeotic mutant spur was isolated from a Brazilian population of the mosquito Culex pipiens fatigans. Monohybrid crosses showed a 13:3 segregation indicating dominant-and-recessive epistasis for wild-type vs. spur. This implies that a dominant allele at one locus and a recessive at the other interact to produce the mutant phenotype. Dihybrid crosses with linkage group II markers yellow and ruby gave 39:13:9:3 ratios indicating independent segregation. However, the dihybrid cross with linkage group I marker maroon showed a highly significant departure from 39:13:9:3 ratio. Data available indicate that the phenotype spur is controlled by a dominant epistat in linkage group III and a recessive epistat (approximately 31.9 crossover units from maroon) in linkage group I. PMID:1022329

  17. The trauma of a recession.

    PubMed

    Murphy, S M; Kieran, I; Shaughnessy, M O

    2011-09-01

    Employment in construction in Ireland fell by 10% from nearly 282,000 in the second quarter of 2007 to 255,000 in the same period of 2008. Our study looks at the differences in soft tissue upper limb trauma dynamics of a pre- and post-recession Ireland. Construction accounted for 330 patients (27%) of all hand injuries in 2006, but only 18 (3%) in 2009. Our data shows a significant drop in hand injuries related to the construction industry, and more home/DIY cases and deliberate self-harm presenting in their stead. PMID:21431394

  18. Does Gingival Recession Require Surgical Treatment?

    PubMed

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

    2015-10-01

    Gingival recession represents a clinical condition in adults frequently encountered in the general dental practice. Clinicians often face dilemmas of whether or not to treat such a condition surgically. 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 the limited understanding of the factors that guide the treatment of gingival recession. Understanding the cause, prognosis, and treatment of gingival recession continues to offer many unanswered questions and challenges in periodontics as we strive to provide the best care possible for our patients. PMID:26427577

  19. Polysilicon planarization and plug recess etching in a decoupled plasma source chamber using two endpoint techniques

    NASA Astrophysics Data System (ADS)

    Kaplita, George A.; Schmitz, Stefan; Ranade, Rajiv; Mathad, Gangadhara S.

    1999-09-01

    The planarization and recessing of polysilicon to form a plug are processes of increasing importance in silicon IC fabrication. While this technology has been developed and applied to DRAM technology using Trench Storage Capacitors, the need for such processes in other IC applications (i.e. polysilicon studs) has increased. Both planarization and recess processes usually have stringent requirements on etch rate, recess uniformity, and selectivity to underlying films. Additionally, both processes generally must be isotropic, yet must not expand any seams that might be present in the polysilicon fill. These processes should also be insensitive to changes in exposed silicon area (pattern factor) on the wafer. A SF6 plasma process in a polysilicon DPS (Decoupled Plasma Source) reactor has demonstrated the capability of achieving the above process requirements for both planarization and recess etch. The SF6 process in the decoupled plasma source reactor exhibited less sensitivity to pattern factor than in other types of reactors. Control of these planarization and recess processes requires two endpoint systems to work sequentially in the same recipe: one for monitoring the endpoint when blanket polysilicon (100% Si loading) is being planarized and one for monitoring the recess depth while the plug is being recessed (less than 10% Si loading). The planarization process employs an optical emission endpoint system (OES). An interferometric endpoint system (IEP), capable of monitoring lateral interference, is used for determining the recess depth. The ability of using either or both systems is required to make these plug processes manufacturable. Measuring the recess depth resulting from the recess process can be difficult, costly and time- consuming. An Atomic Force Microscope (AFM) can greatly alleviate these problems and can serve as a critical tool in the development of recess processes.

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

    PubMed Central

    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

  1. 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…

  2. 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…

  3. Recess for Elementary School Students. Position Statement

    ERIC Educational Resources Information Center

    National Association for Sport and Physical Education, 2006

    2006-01-01

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

  4. 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. PMID:23277311

  5. Aetiology and Severity of Gingival Recession in an Adult Population Sample in Greece

    PubMed Central

    Chrysanthakopoulos, Nikolaos Andreas

    2011-01-01

    Background: Gingival recession is the most common and undesirable condition of the gingiva. The aim of study was to investigate the aetiology and severity of gingival recession in a Greek adult population sample. Methods: The study was performed on 165 males and 179 females, 18-68 years old who sought dental treatment in a private dental practice and showed gingival recession. All subjects were clinically examined and answered questions regarding their oral hygiene habits such as the type of toothbrush, frequency of brushing and method of brushing. The association between gingival recession and the following parameters was assessed: plaque score, gingival score and tooth position. Statistical analysis of the results was accomplished using chi-square test (α = 0.05). Results: The majority (79.4%) of the patients showed grade I gingival recession and 15.3% showed grade II gingival recession. The maxillary 1st and 2nd molars (35.3%) and the mandibular 1st and 2nd molars (28.7%) were the teeth most frequently affected by root surface exposure. Patients with sub-gingival calculus, bacterial plaque and gingival inflammation (P <60; 0.05), malpositioned teeth (P <60; 0.001), horizontal brushing method, medium type of toothbrush (P <60; 0.001) and brushing once daily (P <60; 0.001) appeared to be the most common precipitating aetiological factor for gingival recession. Conclusion: According to the results of the present study, gingival recession was the result of more than one factor acting together. Horizontal brushing method, usage of medium type toothbrush and tooth brushing once daily were found to be more associated with gingival recession. PMID:22013465

  6. 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

  7. Event-based Recession Analysis across Scales

    NASA Astrophysics Data System (ADS)

    Chen, B.; Krajewski, W. F.

    2012-12-01

    Hydrograph recessions have long been a window to investigate hydrological processes and their interactions. The authors conducted an exploratory analysis of about 1000 individual hydrograph recessions in a period of around 15 years (1995-2010) from time series of hourly discharge (USGS IDA stream flow data set) at 27 USGS gauges located in Iowa and Cedar River basins with drainage area ranging from 6.7 to around 17000 km2. They calculated recession exponents with the same recession length but different time lags from the hydrograph peak ranging from ~0 to 96 hours, and then plotted them against time lags to construct the evolution of recession exponent. The result shows that, as recession continues, the recession exponent in first increases quickly, then decreases quickly, and finally stays constant. Occasionally and for different reasons, the decreasing portion is missing due to negligible contribution from soil water storage. The increasing part of the evolution of can be related to fast response to rainfall including overland flow and quick subsurface flow through macropores (or tiles), and the decreasing portion can be connected to the delayed soil water response. Lastly, the constant segment can be attributed to the groundwater storage with the slowest response. The points where recession exponent reaches its maximum and begins to plateau are the times that fast response and soil water response end, respectively. The authors conducted further theoretical analysis by combining mathematical derivation and literature results to explain the observed evolution path of the recession exponent . Their results have a direct application in hydrograph separation and important implications for dynamic basin storage-discharge relation analysis and hydrological process understanding across scales.

  8. 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

  9. 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- ...

  10. Graduated recession of the superior oblique muscle.

    PubMed Central

    Caldeira, J A

    1975-01-01

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

  11. The Great Recession's impact on children.

    PubMed

    Oberg, Charles N

    2011-07-01

    Since that first day of the millennium the United States has experienced two recessions. The first recession began in 2001 and lasted for 10 months. The second, now referred to as the Great Recession, began in December of 2007, was approximately 18 months in duration and was followed by a weak and jobless recovery that has persisted into the second decade of this century. This commentary will examine how low-income children have fared in regard to economic security, food insecurity and housing instability as a result of the Great Recession and recent economic downturn. It concludes with a call to action for a renewed investment in our children through a Children's Recovery and Stimulus Initiative. PMID:21528399

  12. 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.

  13. 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

  14. A novel technique for inferior rectus recession

    PubMed Central

    Gokyigit, Birsen; Akar, Serpil; Yilmaz, Omer Faruk

    2014-01-01

    Purpose To introduce a novel technique of inferior rectus recession operation to allow larger amounts of recession without causing lower lid retraction and to compare this method with the results obtained in standard inferior rectus recession. Material and methods This study included 20 patients operated on in the authors’ clinic. The median age of the patients was 24.5±18.6 (4–73) years and the median follow-up was 9.3±11.8 (3–43) months. Ten patients operated on with the standard method were labeled Group 1 and ten patients operated on with the new method were labeled Group 2. Without exceeding 4 mm, inferior rectus recession to the whole muscle was performed in Group 1 patients. Inferior rectus recession was also performed on patients in Group 2 following the new method. Using a spatula, approximately 10% of the muscle surface fibers were detached intact as a thin layer, and the remaining 90% of deeper fibers were recessed 4–8 mm as planned. Patients’ preoperative deviations and lower lid positions were recorded. The same parameters were checked in the first and third month postoperatively. Both groups were evaluated retrospectively by screening their files, and the Mann–Whitney U test was used for statistical evaluation. Results Lower lid retraction was seen in four patients of Group 1. There was no retraction in Group 2. While there was a need to perform additional vertical muscle procedures for vertical deviations and lower lid retractions in Group 1, it was observed that there was no need for additional procedures in Group 2 patients. There was a statistically meaningful difference between the two procedures (P<0.05). Conclusion This novel technique was found to be an effective surgical method for permitting more recession without the risk of lower lid retraction. PMID:24492531

  15. Synthesis of streamflow recession curves in dry environments

    NASA Astrophysics Data System (ADS)

    Arciniega, Saul; Breña-Naranjo, Agustín; Pedrozo-Acuña, Adrían

    2015-04-01

    The elucidation and predictability of hydrological systems can largely benefit by extracting observed patterns in processes, data and models. Such type of research framework in hydrology, also known as synthesis has gained significant attention over the last decade. For instance, hydrological synthesis implies that the identification of patterns in catchment behavior can enhance the extrapolation of hydrological signatures over large spatial and temporal scales. Hydrological signatures during dry periods such as streamflow recession curves (SRC) are of special interest in regions coping with water scarcity. Indeed, the study of SRCs from observed hydrographs allows to extract information about the storage-discharge relationship of a specific catchment and some of their groundwater hydraulic properties. This work aims at performing a synthesis work of SRCs in semi-arid & arid environments across Northern Mexico. Our dataset consisted in observed daily SRCs in 63 catchments with minima human interferences. Three streamflow recession extraction methods (Vogel, Brutsaert and Aksoy-Wittenberg) along with four recession models (Maillet, Boussinesq, Coutagne y Wittenberg) and three parameter estimation techniques (regressions, lower envelope y data binning) were used to determine the combination among different possible methods, processes and models that better describes SRCs in our study sites. Our results show that the extraction method proposed by Aksoy-Wittenberg along with Coutagne's nonlinear recession model provides a better approximation of SRCs across Northern Mexico, whereas regression was found to be the most adequate parameter estimation method. This study suggests that hydrological synthesis turned out to be an useful framework to identify similar patterns and model parameters during dry periods across Mexico's water-limited environments.

  16. 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

  17. 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.

  18. CRTAP AND LEPRE1 MUTATIONS IN RECESSIVE OSTEOGENESIS IMPERFECTA

    PubMed Central

    Baldridge, Dustin; Schwarze, Ulrike; Morello, Roy; Lennington, Jennifer; Bertin, Terry K.; Pace, James M.; Pepin, Melanie G.; Weis, MaryAnn; Eyre, David R.; Walsh, Jennifer; Lambert, Deborah; Green, Andrew; Robinson, Haynes; Michelson, Melonie; Houge, Gunnar; Lindman, Carl; Martin, Judith; Ward, Jewell; Lemyre, Emmanuelle; Mitchell, John J.; Krakow, Deborah; Rimoin, David L.; Cohn, Daniel H.; Byers, Peter H.; Lee, Brendan

    2009-01-01

    Autosomal dominant osteogenesis imperfecta (OI) is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I collagen. Recently, dysregulation of hydroxylation of a single proline residue at position 986 of both the triple-helical domains of type I collagen α1(I) and type II collagen α1(II) chains has been implicated in the pathogenesis of recessive forms of OI. Two proteins, CRTAP, or cartilage-associated protein, and prolyl-3-hydroxylase-1 (P3H1, encoded by the LEPRE1 gene) form a complex that performs the hydroxylation and brings the prolyl cis-trans isomerase cyclophilin-B (CYPB) to the unfolded collagen. In our screen of 78 subjects diagnosed with OI type II or III, we identified three probands with mutations in CRTAP and sixteen with mutations in LEPRE1. The latter group includes a mutation in patients from the Irish Traveller population, a genetically isolated community with increased incidence of OI. The clinical features resulting from CRTAP or LEPRE1 loss of function mutations were difficult to distinguish at birth. Infants in both groups had multiple fractures, decreased bone modeling (affecting especially the femurs), and extremely low bone mineral density. Interestingly, “popcorn” epiphyses may reflect underlying cartilaginous and bone dysplasia in this form of OI. These results expand the range of CRTAP/LEPRE1 mutations that result in recessive OI and emphasize the importance of distinguishing recurrence of severe OI of recessive inheritance from those that result from parental germline mosaicism for COL1A1 or COL1A2 mutations. PMID:18566967

  19. Surgical Responses of Medial Rectus Muscle Recession in Thyroid Eye Disease-Related Esotropia.

    PubMed

    Lyu, In Jeong; Lee, Ju-Yeun; Kong, Mingui; Park, Kyung-Ah; Oh, Sei Yeul

    2016-01-01

    We evaluate the surgical outcomes and surgical responses of medial rectus muscle (MR) recession patients with thyroid eye disease (TED)-related esotropia (ET). The surgical dose-response curves 1 week postoperatively and at the final visit were analyzed. Univariable and multivariable linear regression analyses were applied to investigate factors influencing surgical dose-response. A total of 43 patients with TED-related ET that underwent MR recession were included. The final success rate was 86.0% and the rate of undercorrection was 14.0%. The surgical dose-response curves of TED-related ET showed a gentle slope compared with those of standard surgical tables. In the univariable model, simultaneous vertical rectus muscle recession was the only significant factor influencing surgical dose-response of MR recession in TED-related ET (β = -0.397, P = 0.044). In a model adjusted for age, sex, type of surgery, and preoperative horizontal angle of deviation, simultaneous vertical rectus muscle recession showed marginal significance (β = -0.389, P = 0.064). The surgical dose-response curve of TED-related ET was unique. Simultaneous vertical rectus muscle recession was associated with increased surgical dose-response in TED-related ET. PMID:26796354

  20. Surgical Responses of Medial Rectus Muscle Recession in Thyroid Eye Disease-Related Esotropia

    PubMed Central

    Lyu, In Jeong; Lee, Ju-Yeun; Kong, Mingui; Park, Kyung-Ah; Oh, Sei Yeul

    2016-01-01

    We evaluate the surgical outcomes and surgical responses of medial rectus muscle (MR) recession patients with thyroid eye disease (TED)-related esotropia (ET). The surgical dose-response curves 1 week postoperatively and at the final visit were analyzed. Univariable and multivariable linear regression analyses were applied to investigate factors influencing surgical dose-response. A total of 43 patients with TED-related ET that underwent MR recession were included. The final success rate was 86.0% and the rate of undercorrection was 14.0%. The surgical dose-response curves of TED-related ET showed a gentle slope compared with those of standard surgical tables. In the univariable model, simultaneous vertical rectus muscle recession was the only significant factor influencing surgical dose-response of MR recession in TED-related ET (β = -0.397, P = 0.044). In a model adjusted for age, sex, type of surgery, and preoperative horizontal angle of deviation, simultaneous vertical rectus muscle recession showed marginal significance (β = -0.389, P = 0.064). The surgical dose-response curve of TED-related ET was unique. Simultaneous vertical rectus muscle recession was associated with increased surgical dose-response in TED-related ET. PMID:26796354

  1. "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.

  2. 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.

  3. 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.

  4. Autosomal recessive osteopetrosis in Arab children.

    PubMed

    Abdel-Al, Y K; Shabani, I S; Lubani, M M; al-Ghawabi, M A; Ibrahim, M D; al-Mohtaseb, S; Duodin, K I

    1994-01-01

    Nineteen Arab children including six boys and 13 girls in ten sibships were diagnosed as having osteopetrosis over a 5-year period in various hospitals in Kuwait. Eighteen patients had an isolated autosomal recessive form and one had autosomal recessive osteopetrosis associated with renal tubular acidosis. The mean age of diagnosis was 24 months. Parental consanguinity was high amongst them (68%). Anaemia, hepatosplenomegaly, failure to thrive, recurrent infections and neurological manifestations were common. Associated congenital abnormalities were found in 26%. Deafness, hydrocephalus and dental caries were relatively less common. A high mortality (37%) owing to infection was noted. The medical management and recommendations for patient care are discussed briefly. PMID:7516136

  5. 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.

  6. 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…

  7. 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…

  8. 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…

  9. 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…

  10. 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)

  11. The Global Picture. Recession to Recovery

    ERIC Educational Resources Information Center

    Universities UK, 2010

    2010-01-01

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

  12. 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

  13. Photogrammetric recession measurements of an ablating surface

    NASA Technical Reports Server (NTRS)

    Schairer, Edward T. (Inventor); Heineck, James T. (Inventor)

    2012-01-01

    An instrument and method for measuring the time history of recession of an ablating surface of a test article during testing in a high enthalpy thermal test facility, such as an arcjet. The method advances prior art by providing time-history data over the full ablating surface without targets and without any modifications to the test article. The method is non-intrusive, simple to implement, requires no external light source, and does not interfere with normal operations of the arcjet facility.

  14. 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.

  15. 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.

  16. Semiconductor devices having a recessed electrode structure

    SciTech Connect

    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.

  17. 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.

  18. The Great Recession, unemployment and suicide

    PubMed Central

    Norström, Thor; Grönqvist, Hans

    2015-01-01

    Background How have suicide rates responded to the marked increase in unemployment spurred by the Great Recession? Our paper puts this issue into a wider perspective by assessing (1) whether the unemployment-suicide link is modified by the degree of unemployment protection, and (2) whether the effect on suicide of the present crisis differs from the effects of previous economic downturns. Methods We analysed the unemployment-suicide link using time-series data for 30 countries spanning the period 1960–2012. Separate fixed-effects models were estimated for each of five welfare state regimes with different levels of unemployment protection (Eastern, Southern, Anglo-Saxon, Bismarckian and Scandinavian). We included an interaction term to capture the possible excess effect of unemployment during the Great Recession. Results The largest unemployment increases occurred in the welfare state regimes with the least generous unemployment protection. The unemployment effect on male suicides was statistically significant in all welfare regimes, except the Scandinavian one. The effect on female suicides was significant only in the eastern European country group. There was a significant gradient in the effects, being stronger the less generous the unemployment protection. The interaction term capturing the possible excess effect of unemployment during the financial crisis was not significant. Conclusions Our findings suggest that the more generous the unemployment protection the weaker the detrimental impact on suicide of the increasing unemployment during the Great Recession. PMID:25339416

  19. 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

  20. 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…

  1. 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…

  2. 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…

  3. 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.

  4. Physical activity during recess in low-income 3rd grade students in Texas

    PubMed Central

    Springer, Andrew E.; Tanguturi, Yasas; Ranjit, Nalini; Skala, Katherine A.; Kelder, Steven H.

    2012-01-01

    Objectives We estimated the prevalence of recess-based moderate and vigorous physical activity (MVPA) and vigorous physical activity (VPA) among third grade students attending low-income, urban schools in Texas. Methods Structured observations (n=77 class and 616 student observations) using SOFIT were conducted over three-months in 8 elementary schools with majority Hispanic students. Results Students engaged in 66.4% and 19.2% of their ~20 minute recess time in MVPA and VPA, respectively. Boys engaged in more MVPA and VPA (P<.007). Contextual differences in activity (setting and activity type) were identified. Conclusions Findings underscore the importance of scheduled recess time for children’s physical activity. PMID:23985178

  5. What mainly controls recession flows in river basins?

    NASA Astrophysics Data System (ADS)

    Biswal, Basudev; Nagesh Kumar, D.

    2014-03-01

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

  6. Fuel compositions for lessening valve seat recession

    SciTech Connect

    Johnston, T.E.; Dorer, C.J. Jr.

    1987-04-21

    A fuel composition is described for internal combustion engines comprising a major amount of a liquid hydrocarbon fuel and a minor, property improving amount sufficient to reduce valve seat recession when the fuel is used in an internal combustion engine of (A) at least one hydrocarbon-soluble alkali or alkaline earth metal containing composition containing at least 8 aliphatic carbon atoms and (B) at least one hydrocarbon-soluble ashless dispersant wherein (A) is the alkali metal or alkaline earth metal salt of a sulfur acid, a carboxylic acid or a phenol.

  7. 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

  8. Clinical and pathological features of an autosomal recessive neuropathy.

    PubMed

    Bouldin, T W; Riley, E; Hall, C D; Swift, M

    1980-06-01

    Two siblings are described, ages 49 and 45 years, having a distinct hereditary motor and sensory neuropathy (HMSN) with severe peroneal nerve involvement. The neuropathic symptoms began in childhood. Both patients have sensorineural deafness. The proband was found to have a cardiac conduction abnormality in the absence of known ischemic heart disease. Electrodiagnostic studies were consistent with a demyelinating peripheral neuropathy. The presence of parental consanguinity and absence of affected individuals in succeeding or preceding generations suggested that the sensorimotor neuropathy in this family is inherited in an autosomal recessive manner. The sural nerve of the proband had significant loss of myelinated fibers and demyelination but few regenerating myelinated fibers and no onion-bulbs. The pathological findings, while nonspecific, are not characteristic of the hypertrophic, neuronal or intermediate types of HMSN. PMID:6247456

  9. 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

  10. The role of the olfactory recess in olfactory airflow.

    PubMed

    Eiting, Thomas P; Smith, Timothy D; Perot, J Blair; Dumont, Elizabeth R

    2014-05-15

    The olfactory recess - a blind pocket at the back of the nasal airway - is thought to play an important role in mammalian olfaction by sequestering air outside of the main airstream, thus giving odorants time to re-circulate. Several studies have shown that species with large olfactory recesses tend to have a well-developed sense of smell. However, no study has investigated how the size of the olfactory recess relates to air circulation near the olfactory epithelium. Here we used a computer model of the nasal cavity from a bat (Carollia perspicillata) to test the hypothesis that a larger olfactory recess improves olfactory airflow. We predicted that during inhalation, models with an enlarged olfactory recess would have slower rates of flow through the olfactory region (i.e. the olfactory recess plus airspace around the olfactory epithelium), while during exhalation these models would have little to no flow through the olfactory recess. To test these predictions, we experimentally modified the size of the olfactory recess while holding the rest of the morphology constant. During inhalation, we found that an enlarged olfactory recess resulted in lower rates of flow in the olfactory region. Upon exhalation, air flowed through the olfactory recess at a lower rate in the model with an enlarged olfactory recess. Taken together, these results indicate that an enlarged olfactory recess improves olfactory airflow during both inhalation and exhalation. These findings add to our growing understanding of how the morphology of the nasal cavity may relate to function in this understudied region of the skull. PMID:24577441

  11. Autosomal recessive nonsyndromic deafness genes: a review

    PubMed Central

    Duman, Duygu; Tekin, Mustafa

    2013-01-01

    More than 50 percent of prelingual hearing loss is genetic in origin, and of these up to 93 percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be recognized by their associated syndromic features, but in most cases, hearing loss is the only finding and is referred to as nonsyndromic deafness. To date, more than 700 different mutations have been identified in one of 42 genes in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL). Reported mutations in GJB2, encoding connexin 26, makes this gene the most common cause of hearing loss in many populations. Other relatively common deafness genes include SLC26A4, MYO15A, OTOF, TMC1, CDH23, and TMPRSS3. In this report we summarize genes and mutations reported in families with ARNSHL. Founder effects were demonstrated for some recurrent mutations but the most significant findings are the extreme locus and allelic heterogeneity and different spectrum of genes and mutations in each population. PMID:22652773

  12. Impact of interleukin 1 gene polymorphism and smoking on long-term stability following gingival recession treatment.

    PubMed

    Jankovic, Sasha; Aleksic, Zoran; Dimitrijevic, Bozidar; Camargo, Paulo; Kenney, Barry; Lekovic, Vojislav

    2013-01-01

    Risk factors such as smoking, genetic factors, and tissue biotype play an important role in the etiology, predictability, and long-term stability of gingival recession treatment. This study was designed to evaluate the influence of interleukin 1 (IL-1) polymorphism and smoking on the stability of gingival recession treatment after 1 and 3 years. All patients (n = 55) were treated for type I and II recession defects using a connective tissue graft. Clinical evaluations were performed, which included assessment of vertical recession depth, gingival inflammation, and clinical attachment level. A fingerstick blood sample was collected using specially provided DNA filter paper and mailed for processing in a laboratory using polymerase chain reaction-based methodology. The results indicated that 19 subjects were genotype positive (34.5%). Treatment of the localized recessions was effective and provided a similar amount of coverage in genotype-positive and genotype-negative subjects within smoking and nonsmoking groups after 1 year. In a 3-year period, nonsmoking patients with positive IL-1 genotype lost approximately 20% of the root coverage gained at 1 year and were almost four times more inferior compared with genotype-negative patients. Patients who smoked and had a positive IL-1 genotype lost approximately 35% of the gained root coverage. IL-1 polymorphism and smoking habit did not affect gingival recession treatment at 1 year but had a great impact on long-term stability. PMID:23342354

  13. [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

  14. 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

  15. Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome

    PubMed Central

    Kelley, Brian P; Malfait, Fransiska; Bonafe, Luisa; Baldridge, Dustin; Homan, Erica; Symoens, Sofie; Willaert, Andy; Elcioglu, Nursel; Van Maldergem, Lionel; Verellen-Dumoulin, Christine; Gillerot, Yves; Napierala, Dobrawa; Krakow, Deborah; Beighton, Peter; Superti-Furga, Andrea; De Paepe, Anne; Lee, Brendan

    2011-01-01

    Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and posttranslational modification of type I collagen. Autosomal dominant OI is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I collagen. Bruck syndrome is a recessive disorder featuring congenital contractures in addition to bone fragility; Bruck syndrome type 2 is caused by mutations in PLOD2 encoding collagen lysyl hydroxylase, whereas Bruck syndrome type 1 has been mapped to chromosome 17, with evidence suggesting region 17p12, but the gene has remained elusive so far. Recently, the molecular spectrum of OI has been expanded with the description of the basis of a unique posttranslational modification of type I procollagen, that is, 3-prolyl-hydroxylation. Three proteins, cartilage-associated protein (CRTAP), prolyl-3-hydroxylase-1 (P3H1, encoded by the LEPRE1 gene), and the prolyl cis-trans isomerase cyclophilin-B (PPIB), form a complex that is required for fibrillar collagen 3-prolyl-hydroxylation, and mutations in each gene have been shown to cause recessive forms of OI. Since then, an additional putative collagen chaperone complex, composed of FKBP10 (also known as FKBP65) and SERPINH1 (also known as HSP47), also has been shown to be mutated in recessive OI. Here we describe five families with OI-like bone fragility in association with congenital contractures who all had FKBP10 mutations. Therefore, we conclude that FKBP10 mutations are a cause of recessive osteogenesis imperfecta and Bruck syndrome, possibly Bruck syndrome Type 1 since the location on chromosome 17 has not been definitely localized. © 2011 American Society for Bone and Mineral Research. PMID:20839288

  16. 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

  17. 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. PMID:25651572

  18. A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

    PubMed Central

    Hu, Ying; Chen, I-Ping; de Almeida, Salome; Tiziani, Valdenize; Do Amaral, Cassio M. Raposo; Gowrishankar, Kalpana; Passos-Bueno, Maria Rita; Reichenberger, Ernst J.

    2013-01-01

    Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR) form of CMD had been mapped to 6q21-22 the mutation has been elusive. In this study, we performed whole-exome sequencing for one subject with AR CMD and identified a novel missense mutation (c.716G>A, p.Arg239Gln) in the C-terminus of the gap junction protein alpha-1 (GJA1) coding for connexin 43 (Cx43). We confirmed this mutation in 6 individuals from 3 additional families. The homozygous mutation cosegregated only with affected family members. Connexin 43 is a major component of gap junctions in osteoblasts, osteocytes, osteoclasts and chondrocytes. Gap junctions are responsible for the diffusion of low molecular weight molecules between cells. Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850) and isolated syndactyly type III (MIM #186100), the characteristic digital anomaly in ODDD. However, characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with the recessive Arg239Gln Cx43 mutation. Bone remodeling mechanisms disrupted by this novel Cx43 mutation remain to be elucidated. PMID:23951358

  19. 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.

  20. 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…

  1. Women and Jobs in Recessions: 1969-92.

    ERIC Educational Resources Information Center

    Goodman, William; And Others

    1993-01-01

    The probability of losing one's job because of a recession is very different for women and men, but, in the last two recessions, gender differences were reduced. The major cause is the relative performance of industries that heavily employ women (such as services) versus those that heavily employ men (such as goods-producing). (JOW)

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

    ERIC Educational Resources Information Center

    Elliott, Steven; Combs, Sue; Boyce, Robert

    2011-01-01

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

  3. 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…

  4. 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…

  5. 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…

  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. 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…

  8. 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…

  9. Unusual molecular findings in autosomal recessive spinal muscular atrophy.

    PubMed Central

    Matthijs, G; Schollen, E; Legius, E; Devriendt, K; Goemans, N; Kayserili, H; Apäk, M Y; Cassiman, J J

    1996-01-01

    All three types of autosomal recessive spinal muscular atrophy map to chromosome 5q11.2-q13.3 and are associated with deletions or mutations of the SMN (survival motor neurone) gene. The availability of a test to distinguish between the SMN gene and its nearly identical centromeric copy cBCD541 allows molecular diagnosis. We have analysed patients from 24 Belgian and 34 Turkish families for the presence or absence of a deletion in the SMN gene. A homozygous deletion in the SMN gene was seen in 90% of unrelated SMA patients. A non-radioactive SSCP assay allows for a semiquantitative analysis of the copy number of the centromeric and SMN genes. Hence, direct carrier detection has become feasible under certain conditions. We observed a phenotypically normal male, father of an SMA type I patient, presenting with only a single copy of the SMN gene and lacking both copies of the cBCD541 gene. This illustrates that a reduction of the total number of SMN and cBCD541 genes to a single SMN copy is compatible with normal life. In another SMA type I family, there is evidence for a de novo deletion of the centromeric gene in a normal sib. This observation illustrates the susceptibility of the SMA locus to de novo deletions and rearrangements. Images PMID:8782046

  10. 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. PMID:26136112

  11. 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

  12. Testing homology of loci for two plumage colors, "lavender" and "recessive white," with chicken and Japanese quail hybrids.

    PubMed

    Minvielle, F; Gourichon, D; Monvoisin, J L

    2002-01-01

    Homology for two plumage color loci was studied by hybridization between chickens and Japanese quail. First, chicken-quail hybrids were produced from homozygous "lavender" chicken cocks and "bleu" Japanese quail, and all 30 hybrids had the same parental slate blue plumage color. On the other hand, no hybrids with this plumage were obtained out of 18 progeny from the same cocks and wild-type quail. These results show that the slate blue plumage color is determined by homologous loci in Japanese quail and chickens. Second, all (n = 25) chicken-quail hybrids hatched from homozygous "recessive white" cocks and "recessive white" (n = 8) or "wild-type" (n = 17) quail had the same pattern of plumage color, with white feathers on the ventral face and colored feathers elsewhere. These results indicate that the recessive white mutations are not homologous in Japanese quail and chickens. PMID:12011184

  13. 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.

  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. 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

  17. Periodontal regeneration in gingival recession defects.

    PubMed

    Trombelli, L

    1999-02-01

    Surgical treatment of gingival recession defects aims at obtaining soft tissue coverage of exposed root surfaces and/or augmentation of gingival tissue dimensions. A variety of protocols have been developed to manage these clinical problems. Since one goal of periodontal therapy is the regeneration of the lost attachment apparatus of the tooth, full restoration of defect should be accomplished following mucogingival procedures. This implies regeneration of all periodontal structures, including formation of new cementum with inserting connective tissue fibers, alveolar bone regeneration and recreation of a functional and aesthetic morphology of the mucogingival complex. Animal and human histological studies have shown that healing at gingiva-root interface following pedicle flaps or free soft tissue grafts generally includes a long junctional epithelium with varying amounts of a new connective tissue attachment in the most apical aspect of the covered root surface. Limited bone regeneration has been observed. Adjunctive use of root conditioning agents and cell excluding, wound-stabilizing devices may amplify regenerative outcomes. Changes in the amount of keratinized tissue, which can significantly affect the aesthetic outcome of treatment, have been shown to depend on the interactions among various tissues involved in the healing process and the selected surgical procedure. PMID:10321221

  18. Economic recession and mental health: an overview.

    PubMed

    Cooper, Brian

    2011-01-01

    Effects of the current global economic downturn on population mental health will emerge in the years ahead. Judging from earlier experience of financial crises in various parts of the world, stresses associated with rising unemployment, poverty and social insecurity will lead to upward trends in many national suicide rates, as well as to less readily charted increase in the prevalence of psychiatric illness, alcohol-related disorders and illicit drug use. At the same time, mental health services are being cut back as part of government austerity programs. Budget cuts will thus affect psychiatric services adversely just when economic stressors are raising the levels of need and demand in affected populations. Proactive fiscal and social policies could, however, help to mitigate the health consequences of recession. Evidence- based preventive measures include active labor market and family support programs, regulation of alcohol prices and availability, community care for known high-risk groups, and debt relief projects. Economic mental health care could best be achieved, not by decimating services but by planning and deploying these to meet the needs of defined area populations. PMID:21968374

  19. Laminar flow in a recess of a hydrostatic bearing

    NASA Technical Reports Server (NTRS)

    San Andres, Luis A.; Velthuis, Johannes F. M.

    1992-01-01

    The flow in a recess of a hydrostatic journal bearing is studied in detail. The Navier-Stokes equations for the laminar flow of an incompressible liquid are solved numerically in a two-dimensional plane of a typical bearing recess. Pressure- and shear-induced flows, as well as a combination of these two flow conditions, are analyzed. Recess friction, pressure-ram effects at discontinuities in the flow region, and film entrance pressure loss effects are calculated. Entrance pressure loss coefficients over a forward-facing step are presented as functions of the mean flow Reynolds number for pure-pressure and shear-induced laminar flows.

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

    NASA Technical Reports Server (NTRS)

    Veverka, J.; Goguen, J.

    1973-01-01

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

  1. Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap(-/-) Mice, a Model of Recessive Osteogenesis Imperfecta.

    PubMed

    Grafe, Ingo; Alexander, Stefanie; Yang, Tao; Lietman, Caressa; Homan, Erica P; Munivez, Elda; Chen, Yuqing; Jiang, Ming Ming; Bertin, Terry; Dawson, Brian; Asuncion, Franklin; Ke, Hua Zhu; Ominsky, Michael S; Lee, Brendan

    2016-05-01

    Osteogenesis imperfecta (OI) is characterized by low bone mass, poor bone quality, and fractures. Standard treatment for OI patients is limited to bisphosphonates, which only incompletely correct the bone phenotype, and seem to be less effective in adults. Sclerostin-neutralizing antibodies (Scl-Ab) have been shown to be beneficial in animal models of osteoporosis, and dominant OI resulting from mutations in the genes encoding type I collagen. However, Scl-Ab treatment has not been studied in models of recessive OI. Cartilage-associated protein (CRTAP) is involved in posttranslational type I collagen modification, and its loss of function results in recessive OI. In this study, we treated 1-week-old and 6-week-old Crtap(-/-) mice with Scl-Ab for 6 weeks (25 mg/kg, s.c., twice per week), to determine the effects on the bone phenotype in models of "pediatric" and "young adult" recessive OI. Vehicle-treated Crtap(-/-) and wild-type (WT) mice served as controls. Compared with control Crtap(-/-) mice, micro-computed tomography (μCT) analyses showed significant increases in bone volume and improved trabecular microarchitecture in Scl-Ab-treated Crtap(-/-) mice in both age cohorts, in both vertebrae and femurs. Additionally, Scl-Ab improved femoral cortical parameters in both age cohorts. Biomechanical testing showed that Scl-Ab improved parameters of whole-bone strength in Crtap(-/-) mice, with more robust effects in the week 6 to 12 cohort, but did not affect the increased bone brittleness. Additionally, Scl-Ab normalized the increased osteoclast numbers, stimulated bone formation rate (week 6 to 12 cohort only), but did not affect osteocyte density. Overall, our findings suggest that Scl-Ab treatment may be beneficial in the treatment of recessive OI caused by defects in collagen posttranslational modification. © 2015 American Society for Bone and Mineral Research. PMID:26716893

  2. 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

  3. 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.

  4. Stream flow recession patterns can help unravel the role of climate and humans in landscape co-evolution

    NASA Astrophysics Data System (ADS)

    Bogaart, P. W.; van der Velde, Y.; Lyon, S. W.; Dekker, S. C.

    2015-09-01

    Traditionally, long term predictions of river discharges and their extremes include constant relationships between landscape properties and model parameters. However, due to co-evolution of many of landscape properties more sophisticated methods to quantify future landscape-hydrological model relationships are likely necessary. 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 faster initial recession, but also slower recession towards baseflow. 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 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.

  5. 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.

  6. A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

    PubMed

    Di Fede, Giuseppe; Catania, Marcella; Morbin, Michela; Rossi, Giacomina; Suardi, Silvia; Mazzoleni, Giulia; Merlin, Marco; Giovagnoli, Anna Rita; Prioni, Sara; Erbetta, Alessandra; Falcone, Chiara; Gobbi, Marco; Colombo, Laura; Bastone, Antonio; Beeg, Marten; Manzoni, Claudia; Francescucci, Bruna; Spagnoli, Alberto; Cantù, Laura; Del Favero, Elena; Levy, Efrat; Salmona, Mario; Tagliavini, Fabrizio

    2009-03-13

    beta-Amyloid precursor protein (APP) mutations cause familial Alzheimer's disease with nearly complete penetrance. We found an APP mutation [alanine-673-->valine-673 (A673V)] that causes disease only in the homozygous state, whereas heterozygous carriers were unaffected, consistent with a recessive Mendelian trait of inheritance. The A673V mutation affected APP processing, resulting in enhanced beta-amyloid (Abeta) production and formation of amyloid fibrils in vitro. Co-incubation of mutated and wild-type peptides conferred instability on Abeta aggregates and inhibited amyloidogenesis and neurotoxicity. The highly amyloidogenic effect of the A673V mutation in the homozygous state and its anti-amyloidogenic effect in the heterozygous state account for the autosomal recessive pattern of inheritance and have implications for genetic screening and the potential treatment of Alzheimer's disease. PMID:19286555

  7. A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis

    PubMed Central

    Di Fede, Giuseppe; Catania, Marcella; Morbin, Michela; Rossi, Giacomina; Suardi, Silvia; Mazzoleni, Giulia; Merlin, Marco; Giovagnoli, Anna Rita; Prioni, Sara; Erbetta, Alessandra; Falcone, Chiara; Gobbi, Marco; Colombo, Laura; Bastone, Antonio; Beeg, Marten; Manzoni, Claudia; Francescucci, Bruna; Spagnoli, Alberto; Cantù, Laura; Del Favero, Elena; Levy, Efrat; Salmona, Mario; Tagliavini, Fabrizio

    2009-01-01

    β-Amyloid precursor protein (APP) mutations cause familial Alzheimer’s disease with nearly complete penetrance. We found an APP mutation [alanine-673→valine-673 (A673V)] that causes disease only in the homozygous state, whereas heterozygous carriers were unaffected, consistent with a recessive Mendelian trait of inheritance. The A673V mutation affected APP processing, resulting in enhanced β-amyloid (Aβ) production and formation of amyloid fibrils in vitro. Co-incubation of mutated and wild-type peptides conferred instability on Aβ aggregates and inhibited amyloidogenesis and neurotoxicity. The highly amyloidogenic effect of the A673V mutation in the homozygous state and its anti-amyloidogenic effect in the heterozygous state account for the autosomal recessive pattern of inheritance and have implications for genetic screening and the potential treatment of Alzheimer’s disease. PMID:19286555

  8. 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

  9. Highly effective SNP-based association mapping and management of recessive defects in livestock.

    PubMed

    Charlier, Carole; Coppieters, Wouter; Rollin, Frédéric; Desmecht, Daniel; Agerholm, Jorgen S; Cambisano, Nadine; Carta, Eloisa; Dardano, Sabrina; Dive, Marc; Fasquelle, Corinne; Frennet, Jean-Claude; Hanset, Roger; Hubin, Xavier; Jorgensen, Claus; Karim, Latifa; Kent, Matthew; Harvey, Kirsten; Pearce, Brian R; Simon, Patricia; Tama, Nico; Nie, Haisheng; Vandeputte, Sébastien; Lien, Sigbjorn; Longeri, Maria; Fredholm, Merete; Harvey, Robert J; Georges, Michel

    2008-04-01

    The widespread use of elite sires by means of artificial insemination in livestock breeding leads to the frequent emergence of recessive genetic defects, which cause significant economic and animal welfare concerns. Here we show that the availability of genome-wide, high-density SNP panels, combined with the typical structure of livestock populations, markedly accelerates the positional identification of genes and mutations that cause inherited defects. We report the fine-scale mapping of five recessive disorders in cattle and the molecular basis for three of these: congenital muscular dystony (CMD) types 1 and 2 in Belgian Blue cattle and ichthyosis fetalis in Italian Chianina cattle. Identification of these causative mutations has an immediate translation into breeding practice, allowing marker assisted selection against the defects through avoidance of at-risk matings. PMID:18344998

  10. 38. RECESSED ARCH DETAIL WITH STONE SCONCE ON FRONT OF ...

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

    38. RECESSED ARCH DETAIL WITH STONE SCONCE ON FRONT OF 1931 SECTION, PROJECTING SIDE BAY, TAKEN FROM THE NORTH. - James Russell Lowell Elementary School, 4501 Crittenden Drive, Louisville, Jefferson County, KY

  11. Global Recession May Have Contributed to Cancer Deaths

    MedlinePlus

    ... nlm.nih.gov/medlineplus/news/fullstory_159060.html Global Recession May Have Contributed to Cancer Deaths Health- ... THURSDAY, May 26, 2016 (HealthDay News) -- The 2008 global economic crisis has been linked to a sharp ...

  12. Spontaneous improvement of gingival recession after correction of tooth positioning.

    PubMed

    Machado, Andre Wilson; MacGinnis, Matthew; Damis, Lucio; Moon, Won

    2014-06-01

    A 30-year-old woman sought treatment for malpositioned mandibular incisors; the roots were positioned outside the alveolar bone, related to severe localized gingival recession. She had been previously treated orthodontically and subsequently underwent 2 gingival grafts. The new treatment included torquing the roots back within the alveolar bone and referral to a periodontist for a gingival graft. In this clinical report, the possible spontaneous improvement of gingival recession is discussed. A hypothesis described in the literature is called the "creeping attachment" phenomenon. The literature includes conflicting reports about the cause-and-effect relationship between orthodontics and gingival recession. This clinical example reports spontaneous improvement of gingival recession after correction of tooth positioning in the alveolar bone. A gingival graft can be performed after adequate root positioning in the alveolar bone housing, thus increasing the chance of achieving more favorable results. PMID:24880854

  13. 8. Detail view of pierced arch concrete rails and recessed ...

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

    8. Detail view of pierced arch concrete rails and recessed panel railing piers at the west pedestrian alcove, north side of the bridge. - Yellow Mill Bridge, Spanning Yellow Mill Channel at Stratford Avenue, Bridgeport, Fairfield County, CT

  14. 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.

  15. 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.

  16. 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.

  17. 6. VIEW OF DISTURBANCE IN THE LOWER GATE RECESS LOOKING ...

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

    6. VIEW OF DISTURBANCE IN THE LOWER GATE RECESS LOOKING NORTHEAST. - Ohio Slack Water Dams, Lock & Dam No. 4, East bank of Ohio River at mile point 18.6, along State Route 65, Ambridge, Beaver County, PA

  18. 9. VIEW OF UPPER LOCK RECESS SHOWING SUBMERGED GATE TRACKS, ...

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

    9. VIEW OF UPPER LOCK RECESS SHOWING SUBMERGED GATE TRACKS, LOOKING WEST. - Ohio Slack Water Dams, Lock & Dam No. 4, East bank of Ohio River at mile point 18.6, along State Route 65, Ambridge, Beaver County, PA

  19. 31. DETAILED INTERIOR VIEW OF AUXILIARY LOCK, SHOWING RECESSES FOR ...

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

    31. DETAILED INTERIOR VIEW OF AUXILIARY LOCK, SHOWING RECESSES FOR MITER GATE OPERATING MACHINERY IN LEFT FOREGROUND. LOOKING NORTHEAST (UPSTREAM) - Upper Mississippi River Nine-Foot Channel Project, Lock & Dam No. 25, Cap au Gris, Lincoln County, MO

  20. 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

  1. Detail of southeast wing wall, facing east. Note recessed panel, ...

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

    Detail of southeast wing wall, facing east. Note recessed panel, indicative of the stripped classicism style. - Oakland Avenue Viaduct, Oakland Avenue spanning U.S. Route 62 (State Route 2302) & Pine Run, Sharon, Mercer County, PA

  2. Great Recession Linked to Weight Gain in Kids

    MedlinePlus

    ... the negative and lasting health effects of an economic shock like the Great Recession, effects that have ... weight once it is gained, this period of economic hardship could have consequences that last long into ...

  3. 13. POWER CIRCUIT BREAKER, RECESSED IN CABINET BEHIND HINGED METAL ...

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

    13. POWER CIRCUIT BREAKER, RECESSED IN CABINET BEHIND HINGED METAL DOOR (SHOWN OPEN), WEST SIDE, MAIN FLOOR - Bonneville Power Administration South Bank Substation, I-84, South of Bonneville Dam Powerhouse, Bonneville, Multnomah County, OR

  4. Gingival recession: prevalence and risk indicators among young greek adults

    PubMed Central

    2014-01-01

    Objectives: The aim of the current research was to assess the prevalence of gingival recession and to investigate possible associations among this condition, periodontal and epidemiological variables in a sample of young Greek adults in a general dental practice. Material and Methods: A total of 1,430 young adults was examined clinically and interviewed regarding several periodontal and epidemiological variables. Collected data included demographic variables, oral hygiene habits and smoking status. Clinical examination included the recording of dental plaque, supragingival calculus presence, gingival status and buccal gingival recession. Multivariate logistic regression analysis model was performed to access the possible association between gingival recession and several periodontal and epidemiological variables as potential risk factors. Results: The overall prevalence of gingival recession was 63.9%. The statistical analysis indicated that higher educational level [OR= 2.12, 95% CI= 0.53-8.51], cigarette smoking [OR= 1.97, 95% CI= 1.48-7.91], frequent tooth brushing [OR= 0.98, 95% CI= 0.56-1.96], presence of oral piercing [OR= 0.92, 95% CI= 0.38-1.58], presence of gingival inflammation [OR= 4.54, 95% CI= 1.68-7.16], presence of dental plaque [OR= 1.67, 95% CI= 0.68-2.83] and presence of supragingival calculus [OR=1.34, 95% CI= 0.59-1.88], were the most important associated factors of gingival recession. Conclusions: The observations of the current research supported the results from previous authors that several periodontal factors, educational level and smoking were significantly associated with the presence of gingival recession, while presence of oral piercing was a new factor that was found to be associated with gingival recession. Key words:Gingival recession, prevalence, risk factors, young adults. PMID:25136424

  5. 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

  6. 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.

  7. 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

  8. 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…

  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. Novel recessive myotilin mutation causes severe myofibrillar myopathy.

    PubMed

    Schessl, Joachim; Bach, Elisa; Rost, Simone; Feldkirchner, Sarah; Kubny, Christiana; Müller, Stefan; Hanisch, Franz-Georg; Kress, Wolfram; Schoser, Benedikt

    2014-08-01

    We identified the first homozygous and hence recessive mutation in the myotilin gene (MYOT) in a family affected by a severe myofibrillar myopathy (MFM). MFM is a rare, progressive and devastating disease of human skeletal muscle with distinct histopathological pattern of protein aggregates and myofibrillar degeneration. So far, only heterozygous missense mutations in MYOT have been associated with autosomal dominant myofibrillar myopathy, limb-girdle muscular dystrophy type 1A and distal myopathy. Myotilin itself is highly expressed in skeletal and cardiac muscle and is localized at the Z-disc and therefore interacts in sarcomere assembly. We performed whole-exome sequencing in a German family clinically diagnosed with MFM and identified a homozygous mutation in exon 2, c.16C > G (p.Arg6Gly). Using laser microdissection followed by quantitative mass spectrometry, we identified the myotilin protein as one component showing the highest increased abundance in the aggregates in the index patient. We suggest that the combined approach has a high potential as a new tool for the confirmation of unclassified variants which are found in whole-exome sequencing approaches. PMID:24928145

  11. 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

  12. 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

  13. 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…

  14. 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

  15. Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.

    PubMed

    Shi, Yuting; Wang, Junling; Li, Jia-Da; Ren, Haigang; Guan, Wenjuan; He, Miao; Yan, Weiqian; Zhou, Ying; Hu, Zhengmao; Zhang, Jianguo; Xiao, Jingjing; Su, Zheng; Dai, Meizhi; Wang, Jun; Jiang, Hong; Guo, Jifeng; Zhou, Yafang; Zhang, Fufeng; Li, Nan; Du, Juan; Xu, Qian; Hu, Yacen; Pan, Qian; Shen, Lu; Wang, Guanghui; Xia, Kun; Zhang, Zhuohua; Tang, Beisha

    2013-01-01

    Autosomal recessive cerebellar ataxias are a group of neurodegenerative disorders that are characterized by complex clinical and genetic heterogeneity. Although more than 20 disease-causing genes have been identified, many patients are still currently without a molecular diagnosis. In a two-generation autosomal recessive cerebellar ataxia family, we mapped a linkage to a minimal candidate region on chromosome 16p13.3 flanked by single-nucleotide polymorphism markers rs11248850 and rs1218762. By combining the defined linkage region with the whole-exome sequencing results, we identified a homozygous mutation (c.493CT) in CHIP (NM_005861) in this family. Using Sanger sequencing, we also identified two compound heterozygous mutations (c.389AT/c.441GT; c.621C>G/c.707GC) in CHIP gene in two additional kindreds. These mutations co-segregated exactly with the disease in these families and were not observed in 500 control subjects with matched ancestry. CHIP colocalized with NR2A, a subunit of the N-methyl-D-aspartate receptor, in the cerebellum, pons, medulla oblongata, hippocampus and cerebral cortex. Wild-type, but not disease-associated mutant CHIPs promoted the degradation of NR2A, which may underlie the pathogenesis of ataxia. In conclusion, using a combination of whole-exome sequencing and linkage analysis, we identified CHIP, encoding a U-box containing ubiquitin E3 ligase, as a novel causative gene for autosomal recessive cerebellar ataxia. PMID:24312598

  16. Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.

    PubMed

    Islam, Lily; Kelberman, Daniel; Williamson, Laura; Lewis, Nicola; Glindzicz, Maria Bitner; Nischal, Ken K; Sowden, Jane C

    2015-03-01

    Mutations in FOXE3 are associated with both recessive and dominant inheritance of severe anterior ocular malformations and glaucoma. However, functional analyses of putative pathogenic mutations have not been performed. We tested the hypothesis that variations in FOXE3 activity underlie the different modes of inheritance and disease phenotype. In band shift assays, three recessive mutants showed loss-of-function, one retained DNA binding activity, whereas two dominant mutants showed altered activity. All six mutants showed reduced transactivation function compared with wild-type, and modeling the heterozygous state resulted in an intermediate level of activity providing no evidence for dominant negative action. Our in vitro data are consistent with loss-of-function below a dosage sensitive threshold as a mechanism of action for recessive mutations, but indicate an altered mutant protein function rather than a haploinsufficient mechanism for dominant mutations. This study provides the first functional evidence demonstrating that FOXE3 mutations identified in patients impair protein function with differential effects. PMID:25504734

  17. 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

  18. Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia

    PubMed Central

    Shi, Yuting; Wang, Junling; Li, Jia-Da; Ren, Haigang; Guan, Wenjuan; He, Miao; Yan, Weiqian; Zhou, Ying; Hu, Zhengmao; Zhang, Jianguo; Xiao, Jingjing; Su, Zheng; Dai, Meizhi; Wang, Jun; Jiang, Hong; Guo, Jifeng; Zhou, Yafang; Zhang, Fufeng; Li, Nan; Du, Juan; Xu, Qian; Hu, Yacen; Pan, Qian; Shen, Lu; Wang, Guanghui; Xia, Kun; Zhang, Zhuohua; Tang, Beisha

    2013-01-01

    Autosomal recessive cerebellar ataxias are a group of neurodegenerative disorders that are characterized by complex clinical and genetic heterogeneity. Although more than 20 disease-causing genes have been identified, many patients are still currently without a molecular diagnosis. In a two-generation autosomal recessive cerebellar ataxia family, we mapped a linkage to a minimal candidate region on chromosome 16p13.3 flanked by single-nucleotide polymorphism markers rs11248850 and rs1218762. By combining the defined linkage region with the whole-exome sequencing results, we identified a homozygous mutation (c.493CT) in CHIP (NM_005861) in this family. Using Sanger sequencing, we also identified two compound heterozygous mutations (c.389AT/c.441GT; c.621C>G/c.707GC) in CHIP gene in two additional kindreds. These mutations co-segregated exactly with the disease in these families and were not observed in 500 control subjects with matched ancestry. CHIP colocalized with NR2A, a subunit of the N-methyl-D-aspartate receptor, in the cerebellum, pons, medulla oblongata, hippocampus and cerebral cortex. Wild-type, but not disease-associated mutant CHIPs promoted the degradation of NR2A, which may underlie the pathogenesis of ataxia. In conclusion, using a combination of whole-exome sequencing and linkage analysis, we identified CHIP, encoding a U-box containing ubiquitin E3 ligase, as a novel causative gene for autosomal recessive cerebellar ataxia. PMID:24312598

  19. 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

  20. Estimating catchment scale groundwater dynamics from recession analysis - enhanced constraining of hydrological models

    NASA Astrophysics Data System (ADS)

    Skaugen, T.; Mengistu, Z.

    2015-10-01

    In this study we propose a new formulation of subsurface water storage dynamics for use in rainfall-runoff models. Under the assumption of a strong relationship between storage and runoff, the temporal distribution of storage is considered to have the same shape as the distribution of observed recessions (measured as the difference between the log of runoff values). The mean subsurface storage is estimated as the storage at steady-state, where moisture input equals the mean annual runoff. An important contribution of the new formulation is that its parameters are derived directly from observed recession data and the mean annual runoff and hence estimated prior to calibration. Key principles guiding the evaluation of the new subsurface storage routine have been (a) to minimize the number of parameters to be estimated through the, often arbitrary fitting to optimize runoff predictions (calibration) and (b) maximize the range of testing conditions (i.e. large-sample hydrology). The new storage routine has been implemented in the already parameter parsimonious Distance Distribution Dynamics (DDD) model and tested for 73 catchments in Norway of varying size, mean elevations and landscape types. Runoff simulations for the 73 catchments from two model structures; DDD with calibrated subsurface storage and DDD with the new estimated subsurface storage were compared. No loss in precision of runoff simulations was found using the new estimated storage routine. For the 73 catchments, an average of the Nash-Sutcliffe Efficiency criterion of 0.68 was found using the new estimated storage routine compared with 0.66 using calibrated storage routine. The average Kling-Gupta Efficiency criterion was 0.69 and 0.70 for the new and old storage routine, respectively. Runoff recessions are more realistically modelled using the new approach since the root mean square error between the mean of observed and simulated recessions was reduced by almost 50 % using the new storage routine.

  1. 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

  2. Spatial variation of storage capacity and winter recession in the alpine Poschiavino catchment / Switzerland

    NASA Astrophysics Data System (ADS)

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

    2015-04-01

    Better understanding of the spatial variability of recession and storage dynamics in alpine catchments may improve low flow estimation. Especially in areas with little gauging information, mapping water storing sediments and rocks may help identifying areas responsible for sustaining baseflow during low flow periods. In alpine catchments, low flow occurs during winter, because groundwater recharge from precipitation or snowmelt is limited. This provides good opportunities for research on storage behavior. We present a dataset of winter discharge measurements and water chemistry analyses in the alpine Poschiavino River, a 14km² watershed in southeast Switzerland with strongly contrasting subcatchments. To explore how low flow recession relates to the spatial organization of storage potential, geomorphology and sediment type were mapped. From 7 measurement campaigns throughout winter season 2013/14 we derived recession curves for various nested subcatchments. To identify different contributing sources, the discharge measurements were complemented with ion composition analyses of stream water and continuous hourly electric conductivity measurements. This dataset allowed identifying areas contributing during low flow periods and estimating the storage potential of different subcatchments. We found substantial variation in the contribution of different subcatchments from 54mm to 200mm in four months. The spatial variation of discharge and different drainage time scales in the various subcatchments could be attributed to storage properties like thickness of the sediment deposits. Contribution from areas with thick sediment cover is significantly higher than from parts with less deep deposits. However the spatial resolution of research was limited because of complicated subsurface flow paths. Topographic catchment borders did not always correspond to the hydrological ones. This first study on the relation of low flow recession and storage potential represents an

  3. Molecular bases of autosomal recessive limb-girdle muscular dystrophies.

    PubMed

    Nigro, V

    2003-09-01

    Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined disorders with a primary or predominant involvement of the pelvic or shoulder girdle musculature. The clinical course is characterized by great variability, ranging from severe forms with rapid onset and progression to very mild forms allowing affected people to have fairly normal life spans and activity levels. Sixteen loci have been so far identified, six autosomal dominant and ten autosomal recessive. Linkage analyses indicate that there is further genetic heterogeneity both for dominant as well as for recessive LGMD. The dominant forms (LGMD1) are generally milder and relatively rare, representing less than 10% of all LGMD. The autosomal recessive forms (LGMD2) are much more common, having a cumulative prevalence of 1:15,000 with a number of geographical differences. The product of ten autosomal recessive LGMD genes has so far been identified. They are: calpain-3 (LGMD2A), dysferlin (LGMD2B), alpha-sarcoglycan (LGMD2D), beta-sarcoglycan (LGMD2E), gamma-sarcoglycan (LGMD2C), delta-sarcoglycan (LGMD2F), telethonin (LGMD2G), TRIM32 (LGMD2H), fukutin-related protein (LGMD2I) and titin (LGMD2J). There are, however, at least 25% of families who can be excluded from any known locus. The present review is devoted to outline the present advancements in the molecular bases of autosomal recessive LGMD. PMID:14959561

  4. Ecology and Management of the Spring Snowmelt Recession

    NASA Astrophysics Data System (ADS)

    Yarnell, S.; Viers, J. H.; Mount, J. F.

    2009-12-01

    We present a conceptual model for the ecology of the spring snowmelt recession, delineating components of the natural flow regime most relevant to the recession hydrograph and their relation to physical and biological stream processes. Using general principles to describe expected responses in stream ecosystems, we specifically relate the quantifiable components of magnitude, timing and rate of change to abiotic and biotic factors that govern aquatic and riparian ecosystem functioning. We find that shifts in the magnitude of the start of the recession have the largest impacts on abiotic conditions in the channel, while shifts in the timing primarily affect biotic conditions. Shifts in the rate of change of the recession impact both abiotic and biotic conditions, creating the largest observed changes to the stream ecosystem. We discuss these spring hydrograph components with regard to the success of native riverine species, such as cottonwood (Populus spp.) and the Foothill yellow-legged frog (Rana boylii), an indicator species for instream biota in the Mediterranean-montane environment of California. We then present two scenarios of change to the spring snowmelt recession and discuss their potential implications for general stream ecology: 1) effects of flow regulation, and 2) effects of climate warming. Our conceptual model can help guide water resource managers to more effectively maintain key ecosystem processes in regulated rivers, and help watershed stakeholders form adaptation strategies for anticipated changes in the nature of flow regimes due to climate warming.

  5. 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

  6. The Great Recession, somatic symptomatology and alcohol use and abuse.

    PubMed

    Vijayasiri, Ganga; Richman, Judith A; Rospenda, Kathleen M

    2012-09-01

    While most research has examined the long-term effects of alcohol consumption on health, the current study examines how health status impacts on drinking behavior. Using data from a national study conducted between 2010 and 2011 to assess the impact of the recession on drinking behavior, this study examines how economic hardships linked to the recent economic recession affect physical health, and how physical health may in turn affect alcohol use. Structural equation models were used to test the predicted associations. The data demonstrate that many of the economic stressors linked to the recession are associated with increased somatic symptoms. Somatic symptoms are also associated with increased drinking for men, but not for women. These findings suggest that men may use alcohol to self medicate somatic symptomatology. The current findings are consistent with gender role-based explanations that account for gender disparities in the utilization of medical care. PMID:22632797

  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. 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

  9. Autosomal Recessive Polycystic Kidney Disease: Antenatal Diagnosis and Histopathological Correlation

    PubMed Central

    Rajanna, Dayananda Kumar; Reddy, Anjani; Srinivas, Naren Satya; Aneja, Ankur

    2013-01-01

    Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common inheritable disease manifesting in infancy and childhood with a frequency of 1:6,000 to 1:55,000 births. The patient in her second trimester presented with a history of amenorrhea. Ultrasound examination revealed bilateral, enlarged, hyperechogenic kidneys, placentomegaly, and severe oligohydramnios. The pregnancy was terminated. An autopsy was performed on the fetus. Both the kidneys were found to be enlarged and the cut surface showed numerous cysts. The liver sections showed changes due to fibrosis. The final diagnosis of autosomal recessive polycystic kidney disease was made based on these findings. In this article, we correlate the ante-natal ultrasound and histopathological findings in autosomal recessive polycystic kidney disease. PMID:23814685

  10. 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.

  11. The Great Recession, Somatic Symptomatology and Alcohol Use and Abuse

    PubMed Central

    Vijayasiri, Ganga; Richman, Judith A.; Rospenda, Kathleen M.

    2012-01-01

    While most research has examined the long-term effects of alcohol consumption on health, the current study examines how health status impacts on drinking behavior. Using data from a national study conducted between 2010 and 2011 to assess the impact of the recession on drinking behavior, this study examines how economic hardships linked to the recent economic recession affect physical health, and how physical health may in turn affect alcohol use. Structural equation models were used to test the predicted associations. The data demonstrate that many of the economic stressors linked to the recession are associated with increased somatic symptoms. Somatic symptoms are also associated with increased drinking for men, but not for women. These findings suggest that men may use alcohol to self medicate somatic symptomatology. The current findings are consistent with gender role-based explanations that account for gender disparities in the utilization of medical care. PMID:22632797

  12. The Great Recession and the Risk for Child Maltreatment

    PubMed Central

    Brooks-Gunn, Jeanne; Schneider, William; Waldfogel, Jane

    2013-01-01

    This study draws on the Fragile Families and Child Wellbeing Study (N = 2,032), a birth cohort study of families with children from 20 U.S. cities. Interviews occurred between August 2007, and February 2010, when the children were approximately 9 years old. Macro-economic indicators of the Great Recession such as the Consumer Sentiment Index and unemployment and home foreclosure rates were matched to the data to estimate the links between different measures of the Great Recession and high frequency maternal spanking. We find that the large decline in consumer confidence during the Great Recession, as measured by the Consumer Sentiment Index, was associated with worse parenting behavior. In particular, lower levels of consumer confidence were associated with increased levels of high frequency spanking, a parenting behavior that is associated with greater likelihood of being contacted by child protective services. PMID:24045057

  13. 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

  14. 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

  15. 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

  16. 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…

  17. 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…

  18. 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…

  19. 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

  20. Reporting of haplotypes with recessive effects on fertility

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Genomic discovery of five haplotypes with recessive effects on fertility requires new automated tracking methods for QTL causing embryo loss in breeding programs. Most of the losses are early in gestation. Approximate locations of the five QTL were refined using crossovers detected within the pedigr...

  1. 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…

  2. 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,…

  3. 15. INTERIOR OF DINING ROOM SHOWING RECESSED TELEPHONE ALCOVE IN ...

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

    15. INTERIOR OF DINING ROOM SHOWING RECESSED TELEPHONE ALCOVE IN PARTION WALL BETWEEN LIVING ROOM AND DINING ROOM AT PHOTO RIGHT CENTER. OPEN DOOR AT PHOTO LEFT CENTER LEADS TO BEDROOM NO.2. VIEW TO NORTH. - Bishop Creek Hydroelectric System, Plant 4, Worker Cottage, Bishop Creek, Bishop, Inyo County, CA

  4. Unemployment of Family Breadwinners: The Recession of 1975.

    ERIC Educational Resources Information Center

    Moen, Phyllis

    Using 1975 and 1976 data from the Michigan Panel Study of Income Dynamics, this study examines the significance of the 1975 recession for families with children under 18. This study attempted to ascertain what families with children were most susceptible to having an unemployed breadwinner in 1975 and why some family heads were more susceptible to…

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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,…

  10. 17. Emplacement no. 1, showing (LR): recess for powder hoist, ...

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

    17. Emplacement no. 1, showing (L-R): recess for powder hoist, truncated remains of reserve table for projectile, teleautograph niche, and steps to crest of parapet - Fort Wadsworth Battery Romeyn B. Ayers, South side of Ayers Road, Staten Island, Rosebank, Richmond County, NY

  11. 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)

  12. 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…

  13. 14. DETAIL: Gate recess at east gate area. Planking of ...

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

    14. DETAIL: Gate recess at east gate area. Planking of chamber walls and spikes (rear corner) are clearly visible. - Wabash & Erie Canal, Lock No. 2, 8 miles east of Fort Wayne, adjacent to U.S. Route 24, New Haven, Allen County, IN

  14. 57. View looking west. Detail of a recess cut into ...

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

    57. View looking west. Detail of a recess cut into the southwest corner of the forebay crib floor decking. This aperture was made to receive the crib buttress. - Wabash & Erie Canal, Lock No. 2, 8 miles east of Fort Wayne, adjacent to U.S. Route 24, New Haven, Allen County, IN

  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. 1. VIEW LOOKING EAST AT LOWER GATE RECESS AND LOWER ...

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

    1. VIEW LOOKING EAST AT LOWER GATE RECESS AND LOWER GUIDE WALL FROM THE OHIO RIVER. - Ohio Slack Water Dams, Lock & Dam No. 4, East bank of Ohio River at mile point 18.6, along State Route 65, Ambridge, Beaver County, PA

  17. 3. VIEW LOOKING EAST AT UPPER GATE RECESS FROM THE ...

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

    3. VIEW LOOKING EAST AT UPPER GATE RECESS FROM THE OHIO RIVER. (NOTE: REMAINS OF TRACKS FROM ROLLING LOCK GATE, PARTIALLY SUBMERGED.) - Ohio Slack Water Dams, Lock & Dam No. 4, East bank of Ohio River at mile point 18.6, along State Route 65, Ambridge, Beaver County, PA

  18. The Effects of Inflation/Recession on Higher Education.

    ERIC Educational Resources Information Center

    Bowen, William G.

    This document discusses the effects of inflation on colleges and universities. It attempts to explain the basic nature of the current financial problem so that more informed policy decisions can be made. The document discusses the effect of inflation on costs and the effects of inflation/recession on revenues. Chart 1 indicated the Halstead Higher…

  19. Coping with Recession: Public Policy, Economic Downturns and Higher Education.

    ERIC Educational Resources Information Center

    Callan, Patrick M.

    This paper discusses recession and the major policy considerations that states and institutions must face in the current economic downturn. It explores the public policy implications of three major variables: (1) each of the 50 states has a unique higher education system; (2) each state also has a unique revenue and budgetary process; and (3) each…

  20. 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…

  1. 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…

  2. Surgical correction of gingival recessions associated with radicular carious lesions.

    PubMed

    Urbani, G; Lombardo, G; Castellarin, M; Santi, E; Abitbol, T

    1996-04-01

    In this clinical report, six cases are presented in which radicular carious lesions and gingival recessions were treated concurrently. The combined treatment included the removal of caries, radicular planing, and various surgical techniques for root coverage. Traditional procedures, as well as newer procedures, such as guided tissue regeneration, showed successful results. PMID:9051969

  3. 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…

  4. 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

  5. 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

  6. 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…

  7. 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...

  8. 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…

  9. 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…

  10. Ready for Recess: A Pilot Study to Increase Physical Activity in Elementary School Children

    ERIC Educational Resources Information Center

    Huberty, Jennifer L.; Siahpush, Mohammad; Beighle, Aaron; Fuhrmeister, Erin; Silva, Pedro; Welk, Greg

    2011-01-01

    Background: Creating an optimal environment at recess may be necessary to maximize physical activity (PA) participation in youth. The purpose of this study was to determine the initial effectiveness of an elementary school recess intervention on the amount of moderate PA (MPA) and vigorous PA (VPA) during recess and the school day. Methods: This…

  11. 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…

  12. 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…

  13. 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

  14. 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.

  15. 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

  16. Caroli's syndrome with autosomal recessive polycystic kidney disease.

    PubMed

    Shenoy, Prithi; Zaki, Syed Ahmed; Shanbag, Preeti; Bhongade, Swapnil

    2014-07-01

    Caroli's syndrome (CS) is a rare congenital disorder characterized by multiple segmental cystic or saccular dilatations of the intrahepatic bile ducts and congenital hepatic fibrosis. We report a 9-year-old boy who was diagnosed with CS and autosomal recessive poly-cystic kidney disease. On screening, his 5-month-old asymptomatic sister had multiple dilated biliary radicals with multiple bilateral renal cystic lesions. Both the patient and the affected sibling have been advised regular follow-up for monitoring the progression of the disease. In conclusion, patients with CS should be screened for renal cystic lesions and vice versa even if they are asymptomatic. Also, as the disease is inherited in an autosomal recessive manner, it is important to screen family members for early diagnosis and management. PMID:24969198

  17. 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

  18. 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. PMID:25639208

  19. 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.

  20. Operating temperatures of recessed fluorescent fixtures with thermal insulation

    SciTech Connect

    Yarbrough, D.W.; Toor, I.A.

    1981-05-01

    Tests were performed to determine steady state surface temperatures for recessed fluorescent fixtures operated with and without thermal insulation on the top side of the fixture and to identify potential problems associated with the installation of thermal insulation. In addition to measuring temperatures, means were sought by which the fixtures can be thermally insulated and operated without fire hazards or damage to the fixture. (MCW)

  1. The Great Recession and health risks in African American youth.

    PubMed

    Chen, Edith; Miller, Gregory E; Yu, Tianyi; Brody, Gene H

    2016-03-01

    In the present study, we investigated associations of macro-economic conditions - the Great Recession - with cellular epigenetic aging, allostatic load, and self-reported health, in a group that experiences significant health disparities, African Americans. A sample of 330 African American adolescents in Georgia was followed from pre-recession (2007, M age=16.6) to post-recession (2010, M age=19.3). Economic data were collected in both 2007 and 2010. Three groups were formed to represent economic trajectories across the period of the Great Recession (stable low economic hardship, downward mobility, and stable high economic hardship). At age 19, measures of cellular epigenetic aging (derived from leukocyte DNA methylation profiles, reflecting the disparity between a person's biological and chronological age), allostatic load (composite of blood pressure, C reactive protein, cortisol, epinephrine, norepinephrine, and body mass index), and adolescent self-report of health were obtained. Linear trend analyses documented significant differences across all outcomes. The more time adolescents spent under economic hardship, the higher their epigenetic aging [estimate=1.421, SE=0.466, p=.002] and allostatic load [estimate=1.151, SE=0.375, p=.002] scores, and the worse their self-report of health [estimate=4.957, SE=1.800, p=.006]. Specific group comparisons revealed that adolescents in the downward mobility group had higher levels of allostatic load than adolescents in the stable low hardship group [p<.05]. Overall, these findings suggest that the health profiles of African American youth may in part be shaped by environmental macro-economic societal conditions, and that effects on biological markers can be detected relatively early in life. PMID:26718449

  2. Summer base-flow recession curves for Iowa streams

    USGS Publications Warehouse

    Saboe, C.W.

    1966-01-01

    Base-flow recession. curves for the summer months (June through September) were developed in this study for gaging stations on interior Iowa streams having five or more years of record. The tabulated data enables the user, starting with a known base flow at a gage, to estimate base flows for up to 20 days in the future. Rainfall during the period o£ the forecast will require that a new estimate be made after the stream again reaches base flow.

  3. Analytical solutions for recession analyses of sloping aquifers - applicability on relict rock glaciers in alpine catchments

    NASA Astrophysics Data System (ADS)

    Pauritsch, Marcus; Birk, Steffen; Hergarten, Stefan; Kellerer-Pirklbauer, Andreas; Winkler, Gerfried

    2014-05-01

    model was then compared to the analytical solution based on the one dimensional Boussinesq equation for unconfined flow in sloping aquifers. Field observations as well as results from the numerical model suggest that the rock glacier has a complex internal structure with zones of low hydraulic conductivity and a high conductive layer on top. The analytical solution attempts to represent this heterogeneous aquifer by an equivalent homogeneous medium. However, as the relative contribution of the different aquifer components varies throughout the recession, the parameter estimates are not easily interpreted in terms of actual aquifer properties. Employing analytical solutions for recession analysis in this type of setting therefore requires a sound understanding of the internal structure and its influence on the flow and storage processes within the rock glacier.

  4. 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

  5. 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

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

    PubMed Central

    Teebi, A S

    1994-01-01

    Kuwait has a cosmopolitan population of 1.7 million, mostly Arabs. This population is a mosaic of large and small minorities representing most Arab communities. In general, Kuwait's population is characterized by a rapid rate of growth, large family size, high rates of consanguineous marriages within the Arab communities with low frequency of intermarriage between them, and the presence of genetic isolates and semi-isolates in some extended families and Bedouin tribes. Genetic services have been available in Kuwait for over a decade. During this time it has become clear that Arabs have a high frequency of genetic disorders, and in particular autosomal recessive traits. Their pattern is unique and some disorders are relatively common. Examples are Bardet-Biedl and Meckel syndromes, phenylketonuria, and familial Mediterranean fever. A relatively large number of new syndromes and variants have been delineated in Kuwait's population, many being the result of homozygosity for autosomal recessive genes that occurred because of inbreeding. Some of these syndromes have subsequently been found in other parts of the world, negating the concept of the private syndrome. This paper provides an overview of autosomal recessive disorders among the Arabs in Kuwait from a personal perspective and published studies, and highlights the need for genetic services in Arab countries with the goal of prevention and treatment of genetic disorders. PMID:8014972

  7. Recession and Divorce in the United States, 2008-2011

    PubMed Central

    Cohen, Philip N.

    2015-01-01

    Recession may increase divorce through a stress mechanism, or reduce divorce by exacerbating cost barriers or strengthening family bonds. After establishing an individual-level model predicting U.S. women's divorce, the paper tests period effects, and whether unemployment and foreclosures are associated with the odds of divorce using the 2008-2011 American Community Survey. Results show a downward spike in the divorce rate after 2008, almost recovering to the expected level by 2011, which suggests a negative recession effect. On the other hand, state foreclosure rates are positively associated with the odds of divorce with individual controls, although this effect is not significant when state fixed effects are introduced. State unemployment rates show no effect on odds of divorce. Future research will have to determine why national divorce odds fell during the recession while state-level economic indicators were not strongly associated with divorce. Exploratory analysis which shows unemployment decreasing divorce odds for those with college degrees, while foreclosures have the opposite effect, provides one possible avenue for such research. PMID:26023246

  8. Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa.

    PubMed

    Perdoni, Christopher; Osborn, Mark J; Tolar, Jakub

    2016-02-01

    Recessive dystrophic epidermolysis bullosa (RDEB) is a disease caused by mutations in the COL7A1 gene that result in absent or dysfunctional type VII collagen protein production. Clinically, RDEB manifests as early and severe chronic cutaneous blistering, damage to internal epithelium, an increased risk for squamous cell carcinoma, and an overall reduced life expectancy. Recent localized and systemic treatments have shown promise for lessening the disease severity in RDEB, but the concept of ex vivo therapy would allow a patient's own cells to be engineered to express functional type VII collagen. Here, we review gene delivery and editing platforms and their application toward the development of next-generation treatments designed to correct the causative genetic defects of RDEB. PMID:26073463

  9. 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.

  10. 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

  11. 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

  12. The forecast of coastal recession in the eastern gulf of Finland for the twenty-first century

    NASA Astrophysics Data System (ADS)

    Leont'yev, I. O.; Ryabchuk, D. V.; Sergeev, A. Yu.; Kovaleva, O. A.

    2015-05-01

    The evolution of a significant part of the coast in the study area is determined by extreme storm surges eroding the upper part of dunes and inducing coastal recession. In order to forecast the recession a special method using numerical modelling of storm-induced changes in the coastal profiles based on the CROSS-P model is used. The response of the shoreline profile to sea-level rise is estimated using the Bruun rule. Three types of future coastal evolution are distinguished depending on slope of an active part of the profile. It is shown that if the most probable patterns of storm activity and sea level rise occur then the relatively steep coasts in an area from Komarovo to Solnechnoe will retreat by 302-40 meters. Recession of less steep coasts (Ushkovo, south Kotlin, and Petrodvorets) is expected to be 10-20 meters, whereas the extremely gently dipping coasts (in the vicinity of Sestroretsk and near the northern end of the St. Petersburg Flood Protection Complex (FPC)) will retreat by 50-100 m.

  13. A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family.

    PubMed

    Al-Aama, Jumana Y; Dabbagh, Amal A; Edrees, Alaa Y

    2012-01-01

    Neurologic manifestations in osteopetrosis are usually secondary to sclerosis of the skull bones. However, a rare neuropathic subtype of osteopetrosis exists that resembles neurodegenerative storage disorders. Unlike other forms of osteopetrosis, this latter form does not respond to hematopoietic stem cell transplantation. Preliminary studies suggest that this neuropathic form is more likely to be caused by mutations in the CLCN7 gene in an autosomal recessive manner. This study provides further evidence for this phenotype-genotype correlation by presenting a previously unreported mutation in the CLCN7 gene in a Yemeni family with the neuropathic form. This is also the first study of any mutation in patients with osteopetrosis of Arabic ethnicity. As literature review suggests that this type may be more common in Arabs, cascade genetic screening of early onset of autosomal recessive-osteopetrosis in patients of Arabic ancestry may preferably start with the CLCN7 gene rather than the TCIRG gene as is routinely done in clinical laboratories. Identifying a mutation in the CLCN7 gene in a patient with early onset of autosomal recessive-osteopetrosis may also guide therapeutic decisions including the option of hematopoietic stem cell transplantation. PMID:21946807

  14. The Great Recession, genetic sensitivity, and maternal harsh parenting.

    PubMed

    Lee, Dohoon; Brooks-Gunn, Jeanne; McLanahan, Sara S; Notterman, Daniel; Garfinkel, Irwin

    2013-08-20

    Using data from the Fragile Families and Child Wellbeing Study, this study examined the effects of the Great Recession on maternal harsh parenting. We found that changes in macroeconomic conditions, rather than current conditions, affected harsh parenting, that declines in macroeconomic conditions had a stronger impact on harsh parenting than improvements in conditions, and that mothers' responses to adverse economic conditions were moderated by the DRD2 Taq1A genotype. We found no evidence of a moderating effect for two other, less well-studied SNPs from the DRD4 and DAT1 genes. PMID:23918380

  15. SACCHAROMYCES CEREVISIAE Recessive Suppressor That Circumvents Phosphatidylserine Deficiency

    PubMed Central

    Atkinson, Katharine D.

    1984-01-01

    Phenotypic reversion of six independent Saccharomyces cerevisiae cho1 mutants was shown to be due predominantly to mutation of an unlinked gene, eam1. The eam1 gene was located very close to ino1 on chromosome X by meiotic tetrad analysis. Recessive eam1 mutations did not correct the primary cho1 defect in phosphatidylserine synthesis but made endogenous ethanolamine available for sustained nitrogenous phospholipid synthesis. A novel biochemical contribution to nitrogenous lipid synthesis is indicated by the eam1 mutants. PMID:17246236

  16. Innovative therapeutic strategies for recessive dystrophic epidermolysis bullosa.

    PubMed

    Larcher, F; Del Río, M

    2015-06-01

    Recessive dystrophic epidermolysis bullosa (RDEB) is among the most serious rare skin diseases. It is also the rare skin disease for which most effort has been expended in developing advanced therapeutic interventions. RDEB is caused by collagen VII deficiency resulting from COL7A1 mutations. Therapeutic approaches seek to replenish collagen VII and thus restore dermal-epidermal adhesion. Therapeutic options under development include protein therapy and different cell-based and gene-based therapies. In addition to treating skin defects, some of these therapies may also target internal mucosa. In the coming years, these novel therapeutic approaches should substantially improve the quality of life of patients with RDEB. PMID:25796272

  17. Cosmetic surgery in times of recession: macroeconomics for plastic surgeons.

    PubMed

    Krieger, Lloyd M

    2002-10-01

    Periods of economic downturn place special demands on the plastic surgeon whose practice involves a large amount of cosmetic surgery. When determining strategy during difficult economic times, it is useful to understand the macroeconomic background of these downturns and to draw lessons from businesses in other service industries. Business cycles and monetary policy determine the overall environment in which plastic surgery is practiced. Plastic surgeons can take both defensive and proactive steps to maintain their profits during recessions and to prepare for the inevitable upturn. Care should also be taken when selecting pricing strategy during economic slowdowns. PMID:12360083

  18. The Great Recession, genetic sensitivity, and maternal harsh parenting

    PubMed Central

    Lee, Dohoon; Brooks-Gunn, Jeanne; McLanahan, Sara S.; Notterman, Daniel; Garfinkel, Irwin

    2013-01-01

    Using data from the Fragile Families and Child Wellbeing Study, this study examined the effects of the Great Recession on maternal harsh parenting. We found that changes in macroeconomic conditions, rather than current conditions, affected harsh parenting, that declines in macroeconomic conditions had a stronger impact on harsh parenting than improvements in conditions, and that mothers’ responses to adverse economic conditions were moderated by the DRD2 Taq1A genotype. We found no evidence of a moderating effect for two other, less well-studied SNPs from the DRD4 and DAT1 genes. PMID:23918380

  19. Seasonal recession of Mars' south polar cap in 1986

    NASA Technical Reports Server (NTRS)

    James, Philip B.; Martin, Leonard J.; Henson, Jean R.; Birch, Peter V.

    1990-01-01

    Photographs of Mars obtained during the 1986 opposition of the planet have been used to derive the regression curve for the south polar cap between Ls = 190 deg and Ls = 255 deg. The 1986 regression appears to have been unexceptional until after Ls = 230 deg, when it becomes retarded relative to the normal established by the 1971 and 1977 regressions. A study of the data as a function of the filter used suggests that circumpolar clouds were present in early spring, unlike the case in the 1977 recession.

  20. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.

    PubMed

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

    2015-01-01

    Holoprosencephaly is a clinically and genetically heterogeneous midline brain malformation associated with neurologic manifestations including developmental delay, intellectual disability and seizures. Although mutations in the sonic hedgehog gene SHH and more than 10 other genes are known to cause holoprosencephaly, many patients remain without a molecular diagnosis. Here we show that a homozygous truncating mutation of STIL not only causes severe autosomal recessive microcephaly, but also lobar holoprosencephaly in an extended consanguineous Pakistani family. STIL mutations have previously been linked to centrosomal defects in primary microcephaly at the MCPH7 locus. Our results thus expand the clinical phenotypes associated with biallellic STIL mutations to include holoprosencephaly. PMID:25218063

  1. A 2-year clinical evaluation of a diphenylphosphorylazide-cross-linked collagen membrane for the treatment of buccal gingival recession.

    PubMed

    Zahedi, S; Bozon, C; Brunel, G

    1998-09-01

    To retard collagen membrane enzymatic degradation and to increase its mechanical strength, the diphenylphosphorylazide (DPPA) technique has been demonstrated to achieve natural cross-links between peptide chains of collagen without leaving any foreign product in the cross-linked molecule. In the present prospective clinical trial, the potential of a DPPA-cross-linked type I bovine collagen membrane was evaluated in the healing of 15 buccal soft tissue recessions in 15 patients according to the biological concept of guided tissue regeneration. The recession decreased from 3.7 mm (SD 1.4) at baseline to 0.8 mm (SD 1.2) at 2 years postsurgery, corresponding to a mean root coverage of 82.2% (P <0.0001). Concurrently, the clinical attachment level decreased from 5.4 mm (SD 1.6) at baseline to 1.9 mm (SD 1.2) 2 years postsurgery, corresponding to an average clinical attachment gain of 3.5 mm (SD 1.3) (P <0.0001). The 2-year postsurgical width of the keratinized tissue was not significantly different from baseline values. More than half (53%) of the treated sites showed complete root coverage and about two-thirds (73%) of the total cases showed a 75% to 100% disappearance of the mucogingival defect. The present investigation demonstrated that the use of DPPA-cross-linked collagen membranes in the treatment of human buccal soft tissue recessions results in predictable amounts of root coverage and clinical attachment gain. Long-term randomization controlled clinical trials of this material are needed to fully evaluate its potential for treating periodontal recession. PMID:9776025

  2. 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. PMID:26967529

  3. Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy.

    PubMed Central

    Talbot, K; Rodrigues, N; Bernert, G; Bittner, R; Davies, K

    1996-01-01

    Spinal muscular atrophy is an autosomal recessive disease of motor neurone degeneration which shows a variable phenotype. Two candidate genes show deletions in affected subjects but with no distinction between different forms of the disease. We report an unusual family in which mild and severe SMA coexists and patients are deleted for the SMN gene. The father is affected with late onset SMA; therefore this family shows pseudodominant inheritance. When typed using closely linked flanking markers the severely affected son does not share the same haplotype as his sib, who is deleted for SMN but shows no signs yet of SMA. This supports the hypothesis that differences in SMA phenotype can be explained by a multiple allele model. Images PMID:9004135

  4. 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

  5. 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

  6. 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. PMID:23236289

  7. Bone Collagen: New Clues to its Mineralization Mechanism From Recessive Osteogenesis Imperfecta

    PubMed Central

    Eyre, David R.; Ann Weis, Mary

    2013-01-01

    Until 2006 the only mutations known to cause osteogenesis imperfecta (OI) were in the two genes coding for type I collagen chains. These dominant mutations affecting the expression or primary sequence of collagen α1(I) and α2(I) chains account for over 90% of OI cases. Since then a growing list of mutant genes causing the 5–10% of recessive cases has rapidly emerged. They include CRTAP, LEPRE1 and PPIB, which encode three proteins forming the prolyl 3-hydroxylase complex; PLOD2 and FKBP10, which encode respectively lysyl hydroxylase 2 and a foldase required for its activity in forming mature cross-links in bone collagen; SERPIN H1, which encodes the collagen chaperone HSP47; SERPIN F1, which encodes pigment epithelium-derived factor required for osteoid mineralization; and BMP1, which encodes the type I procollagen C-propeptidase. All cause fragile bone in infancy, which can include over-mineralization or under-mineralization defects as well as abnormal collagen post-translational modifications. Consistently both dominant and recessive variants lead to abnormal cross-linking chemistry in bone collagen. These recent discoveries strengthen the potential for a common pathogenic mechanism of misassembled collagen fibrils. Of the new genes identified, eight encode proteins required for collagen post-translational modification, chaperoning of newly synthesized collagen chains into native molecules or transport through the endoplasmic reticulum and Golgi for polymerization, cross-linking and mineralization. In reviewing these findings, we conclude that a common theme is emerging in the pathogenesis of brittle bone disease of mishandled collagen assembly with important insights on post-translational features of bone collagen that have evolved to optimize it as a biomineral template. PMID:23508630

  8. Bank recession processes, rates, and prediction, Lake Sakakawea, North Dakota, U.S.A.

    NASA Astrophysics Data System (ADS)

    Reid, John R.; Sandberg, Brian S.; Millsop, Mark D.

    1988-03-01

    Bank recession at twenty stations along the eastern end of 286 km long Lake Sakakawea, North Dakota, measured regularly between 1983 and 1986, showed a recession range from essentially zero to almost 9 m yr -1 with an average of 1.6 m yr -1. Between 1969 and 1979, rates were greater, the declining rate a normal consequence of the factors affecting bank recession. Rates of recession vary with seasons, with 78% of the annual recession occurring during the warmer season (May-October) as a result of wave erosion. The remaining 22% occurs during thaw failure in spring. Prediction of ultimate (500 yr) bank recessions attempted using historical recession data, the three years of detailed field measurements, and regression analysis of the erosion factors. An equation, presented here, requires field measurement of bank orientation and height, batch width and composition, and slope of the offshore area. Effective fetch must be measured, as well. The resulting equation for the monthly warm season recession rate is: Rs=154.9 -, (18.8 √ A+ 25.1 √ B +10.1 √ c +6.9 √ 0+5.0 √ E + 1.1 √ F) where: A = sine of angle between bank orientation and dominant wind; B = offshore slope angle; C = beach width; D = bank height; E = effective fetch; and F = percentage of coarse beach clasts. The colder season recession percentage is: Rw = Rs [(2.05 D = 0.043 G) - 2/100] where D is bank height and G the bank orientation with respect to sun. The total yearly predicted recession (cm yr -1) is: Rt = 6 ( Rw) + 6 ( Rs) 6 being the number of months of "cold" and "warm" weather at Lake Sakakawea. For this rate to be projected into the future, it is necessary to assume a declining rate of recession, employing a parabolic trend. From this, the ultimate bank recession for Lake Sakakawea is predicted to range up to 542 m.

  9. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

    PubMed Central

    Boone, Philip M.; Campbell, Ian M.; Baggett, Brett C.; Soens, Zachry T.; Rao, Mitchell M.; Hixson, Patricia M.; Patel, Ankita; Bi, Weimin; Cheung, Sau Wai; Lalani, Seema R.; Beaudet, Arthur L.; Stankiewicz, Pawel; Shaw, Chad A.; Lupski, James R.

    2013-01-01

    Over 1200 recessive disease genes have been described in humans. The prevalence, allelic architecture, and per-genome load of pathogenic alleles in these genes remain to be fully elucidated, as does the contribution of DNA copy-number variants (CNVs) to carrier status and recessive disease. We mined CNV data from 21,470 individuals obtained by array-comparative genomic hybridization in a clinical diagnostic setting to identify deletions encompassing or disrupting recessive disease genes. We identified 3212 heterozygous potential carrier deletions affecting 419 unique recessive disease genes. Deletion frequency of these genes ranged from one occurrence to 1.5%. When compared with recessive disease genes never deleted in our cohort, the 419 recessive disease genes affected by at least one carrier deletion were longer and located farther from known dominant disease genes, suggesting that the formation and/or prevalence of carrier CNVs may be affected by both local and adjacent genomic features and by selection. Some subjects had multiple carrier CNVs (307 subjects) and/or carrier deletions encompassing more than one recessive disease gene (206 deletions). Heterozygous deletions spanning multiple recessive disease genes may confer carrier status for multiple single-gene disorders, for complex syndromes resulting from the combination of two or more recessive conditions, or may potentially cause clinical phenotypes due to a multiply heterozygous state. In addition to carrier mutations, we identified homozygous and hemizygous deletions potentially causative for recessive disease. We provide further evidence that CNVs contribute to the allelic architecture of both carrier and recessive disease-causing mutations. Thus, a complete recessive carrier screening method or diagnostic test should detect CNV alleles. PMID:23685542

  10. HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

    PubMed Central

    Hollstein, Ronja; Parry, David A; Nalbach, Lisa; Logan, Clare V; Strom, Tim M; Hartill, Verity L; Carr, Ian M; Korenke, Georg C; Uppal, Sandeep; Ahmed, Mushtaq; Wieland, Thomas; Markham, Alexander F; Bennett, Christopher P; Gillessen-Kaesbach, Gabriele; Sheridan, Eamonn G; Kaiser, Frank J; Bonthron, David T

    2015-01-01

    Background The genetic aetiology of neurodevelopmental defects is extremely diverse, and the lack of distinctive phenotypic features means that genetic criteria are often required for accurate diagnostic classification. We aimed to identify the causative genetic lesions in two families in which eight affected individuals displayed variable learning disability, spasticity and abnormal gait. Methods Autosomal recessive inheritance was suggested by consanguinity in one family and by sibling recurrences with normal parents in the second. Autozygosity mapping and exome sequencing, respectively, were used to identify the causative gene. Results In both families, biallelic loss-of-function mutations in HACE1 were identified. HACE1 is an E3 ubiquitin ligase that regulates the activity of cellular GTPases, including Rac1 and members of the Rab family. In the consanguineous family, a homozygous mutation p.R219* predicted a truncated protein entirely lacking its catalytic domain. In the other family, compound heterozygosity for nonsense mutation p.R748* and a 20-nt insertion interrupting the catalytic homologous to the E6-AP carboxyl terminus (HECT) domain was present; western blot analysis of patient cells revealed an absence of detectable HACE1 protein. Conclusion HACE1 mutations underlie a new autosomal recessive neurodevelopmental disorder. Previous studies have implicated HACE1 as a tumour suppressor gene; however, since cancer predisposition was not observed either in homozygous or heterozygous mutation carriers, this concept may require re-evaluation. PMID:26424145

  11. Simulation of carbon gasification kinetics using an edge recession model

    SciTech Connect

    Takashi Kyotani; Leon y Leon, C.A.L.; Radovic, L.R. )

    1993-07-01

    An edge recession modeling method is proposed as a new approach to the prediction of carbon gasification kinetics. Using this method, the variations in reactive surface area (RSA) and specific reactivity (R) with conversion were simulated for several polynuclear aromatic molecules adopted as models of carbon crystallites. The effects of crystallite size and shape, edge site reactivity and vacancies on the changes in RSA and R with conversion were investigated. As a result, RSA and R were found to be essentially independent of crystallite shape, but to depend on crystallite size and the presence of vacancies. Good agreement was obtained between model predictions and experimental data for several kinds of model carbon crystallites. In the case of structurally disordered carbons (such as chars), simultaneous gasification of model crystallites of two different sizes gave better predictions than that of single-size crystallites. The edge recession model is proposed as an alternative, or at least complementary, approach to the more conventional (and, arguably, less physically meaningful) pore structure development models.

  12. 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

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

    PubMed

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

    2011-10-01

    Common diseases are often complex because they are genetically heterogeneous, with many different genetic defects giving rise to clinically indistinguishable phenotypes. This has been amply documented for early-onset cognitive impairment, or intellectual disability, one of the most complex disorders known and a very important health care problem worldwide. More than 90 different gene defects have been identified for X-chromosome-linked intellectual disability alone, but research into the more frequent autosomal forms of intellectual disability is still in its infancy. To expedite the molecular elucidation of autosomal-recessive intellectual disability, we have now performed homozygosity mapping, exon enrichment and next-generation sequencing in 136 consanguineous families with autosomal-recessive intellectual disability from Iran and elsewhere. This study, the largest published so far, has revealed additional mutations in 23 genes previously implicated in intellectual disability or related neurological disorders, as well as single, probably disease-causing variants in 50 novel candidate genes. Proteins encoded by several of these genes interact directly with products of known intellectual disability genes, and many are involved in fundamental cellular processes such as transcription and translation, cell-cycle control, energy metabolism and fatty-acid synthesis, which seem to be pivotal for normal brain development and function. PMID:21937992

  14. Gingival Recession in a Child-Patient; Easily Missed Etiologies: Case Report with Video

    PubMed Central

    Nwhator, SO

    2014-01-01

    Gingival recession is commonly associated with plaque-induced inflammation and calculus. A high frenal attachment is more important in gingival recession in the child-patient. A healthy child-patient with impeccable oral hygiene presented with localized gingival recession without plaque-induced inflammation which led to the exploration of other possible etiologies. Multiple factors appeared to be acting in consonance (Concomitant multiple etiologies [CME]). The factors were a high frenal attachment, traumatic overbite and bruxism induced by premature tooth contacts. Pedodontists and periodontists should rule out CME in cases of gingival recession in the child-patient. PMID:25031899

  15. Gender Differences in Mental Health Outcomes before, during, and after the Great Recession.

    PubMed

    Dagher, Rada K; Chen, Jie; Thomas, Stephen B

    2015-01-01

    We examined gender differences in mental health outcomes during and post-recession versus pre-recession. We utilized 2005-2006, 2008-2009, and 2010-2011 data from the Medical Expenditure Panel Survey. Females had lower odds of depression diagnoses during and post-recession and better mental health during the recession, but higher odds of anxiety diagnoses post-recession. Males had lower odds of depression diagnoses and better mental health during and post-recession and lower Kessler 6 scores post-recession. We conducted stratified analyses, which confirmed that the aforementioned findings were consistent across the four different regions of the U.S., by employment status, income and health care utilization. Importantly, we found that the higher odds of anxiety diagnoses among females after the recession were mainly prominent among specific subgroups of females: those who lived in the Northeast or the Midwest, the unemployed, and those with low household income. Gender differences in mental health in association with the economic recession highlight the importance of policymakers taking these differences into consideration when designing economic and social policies to address economic downturns. Future research should examine the reasons behind the decreased depression diagnoses among both genders, and whether they signify decreased mental healthcare utilization or increased social support and more time for exercise and leisure activities. PMID:25970634

  16. Gender Differences in Mental Health Outcomes before, during, and after the Great Recession

    PubMed Central

    Dagher, Rada K.; Chen, Jie; Thomas, Stephen B.

    2015-01-01

    We examined gender differences in mental health outcomes during and post-recession versus pre-recession. We utilized 2005-2006, 2008-2009, and 2010-2011 data from the Medical Expenditure Panel Survey. Females had lower odds of depression diagnoses during and post-recession and better mental health during the recession, but higher odds of anxiety diagnoses post-recession. Males had lower odds of depression diagnoses and better mental health during and post-recession and lower Kessler 6 scores post-recession. We conducted stratified analyses, which confirmed that the aforementioned findings were consistent across the four different regions of the U.S., by employment status, income and health care utilization. Importantly, we found that the higher odds of anxiety diagnoses among females after the recession were mainly prominent among specific subgroups of females: those who lived in the Northeast or the Midwest, the unemployed, and those with low household income. Gender differences in mental health in association with the economic recession highlight the importance of policymakers taking these differences into consideration when designing economic and social policies to address economic downturns. Future research should examine the reasons behind the decreased depression diagnoses among both genders, and whether they signify decreased mental healthcare utilization or increased social support and more time for exercise and leisure activities. PMID:25970634

  17. Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix

    PubMed Central

    Valli, M; Barnes, AM; Gallanti, A; Cabral, WA; Viglio, S; Weis, MA; Makareeva, E; Eyre, D; Leikin, S; Antoniazzi, F; Marini, JC; Mottes, M

    2013-01-01

    Deficiency of any component of the ER-resident collagen prolyl 3-hydroxylation complex causes recessive osteogenesis imperfecta (OI). The complex modifies the α1(I)Pro986 residue and contains cartilage-associated protein (CRTAP), prolyl 3-hydroxylase 1 (P3H1) and cyclophilin B (CyPB). Fibroblasts normally secrete about 10% of CRTAP. Most CRTAP mutations cause a null allele and lethal type VII OI. We identified a 7-year-old Egyptian boy with non-lethal type VII OI and investigated the effects of his null CRTAP mutation on collagen biochemistry, the prolyl 3-hydroxylation complex, and collagen in extracellular matrix. The proband is homozygous for an insertion/deletion in CRTAP (c.118_133del16insTACCC). His dermal fibroblasts synthesize fully overmodified type I collagen, and 3-hydroxylate only 5% of α1(I)Pro986. CRTAP transcripts are 10% of control. CRTAP protein is absent from proband cells, with residual P3H1 and normal CyPB levels. Dermal collagen fibril diameters are significantly increased. By immunofluorescence of long-term cultures, we identified a severe deficiency (10–15% of control) of collagen deposited in extracellular matrix, with disorganization of the minimal fibrillar network. Quantitative pulse-chase experiments corroborate deficiency of matrix deposition, rather than increased matrix turnover. We conclude that defects of extracellular matrix, as well as intracellular defects in collagen modification, contribute to the pathology of type VII OI. PMID:21955071

  18. 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.

  19. 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

  20. 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.

  1. 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

  2. ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

    PubMed Central

    Prasov, Lev; Masud, Tehmina; Khaliq, Shagufta; Mehdi, S. Qasim; Abid, Aiysha; Oliver, Edward R.; Silva, Eduardo D.; Lewanda, Amy; Brodsky, Michael C.; Borchert, Mark; Kelberman, Daniel; Sowden, Jane C.; Dattani, Mehul T.; Glaser, Tom

    2012-01-01

    The vertebrate basic helix–loop–helix (bHLH) transcription factor ATOH7 (Math5) is specifically expressed in the embryonic neural retina and is required for the genesis of retinal ganglion cells (RGCs) and optic nerves. In Atoh7 mutant mice, the absence of trophic factors secreted by RGCs prevents the development of the intrinsic retinal vasculature and the regression of fetal blood vessels, causing persistent hyperplasia of the primary vitreous (PHPV). We therefore screened patients with hereditary PHPV, as well as bilateral optic nerve aplasia (ONA) or hypoplasia (ONH), for mutations in ATOH7. We identified a homozygous ATOH7 mutation (N46H) in a large family with an autosomal recessive PHPV disease trait linked to 10q21, and a heterozygous variant (R65G, p.Arg65Gly) in one of five sporadic ONA patients. High-density single-nucleotide polymorphism analysis also revealed a CNTN4 duplication and an OTX2 deletion in the ONA cohort. Functional analysis of ATOH7 bHLH domain substitutions, by electrophoretic mobility shift and luciferase cotransfection assays, revealed that the N46H variant cannot bind DNA or activate transcription, consistent with structural modeling. The N46H variant also failed to rescue RGC development in mouse Atoh7−/− retinal explants. The R65G variant retains all of these activities, similar to wild-type human ATOH7. Our results strongly suggest that autosomal recessive persistent hyperplastic primary vitreous is caused by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment. The R65G allele, however, cannot explain the ONA phenotype. Our study firmly establishes ATOH7 as a retinal disease gene and provides a functional basis to analyze new coding variants. PMID:22645276

  3. Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.

    PubMed

    Hirano, M; Martí, R; Spinazzola, A; Nishino, I; Nishigaki, Y

    2004-10-01

    Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase (TP). The disease is characterized clinically by impaired eye movements, gastrointestinal dysmotility, cachexia, peripheral neuropathy, myopathy, and leukoencephalopathy. Molecular genetic studies of MNGIE patients' tissues have revealed multiple deletions, depletion, and site-specific point mutations of mitochondrial DNA. TP is a cytosolic enzyme required for nucleoside homeostasis. In MNGIE, TP activity is severely reduced and consequently levels of thymidine and deoxyuridine in plasma are dramatically elevated. We have hypothesized that the increased levels of intracellular thymidine and deoxyuridine cause imbalances of mitochondrial nucleotide pools that, in turn, lead to the mtDNA abnormalities. MNGIE was the first molecularly characterized genetic disorder caused by abnormal mitochondrial nucleoside/nucleotide metabolism. Future studies are likely to reveal further insight into this expanding group of diseases. PMID:15571233

  4. Schwannoma originating in lateral recess of the fourth ventricle

    PubMed Central

    Kachhara, Rajneesh; Raje, Prakash; Pauranik, Apoorva

    2012-01-01

    Intracranial schwannomas most commonly occur in relation to vestibular nerves followed by trigeminal nerves. Authors describe a very unusual case of schwannomas originating in lateral recess of the fourth ventricle. Tumor was completely excised micro-surgically via midline suboccipital craniectomy and C1 laminectomy. Dissection of the surgical specimen revealed that the tumor was completely free from surrounding structures and just hanging in the fourth ventricle. It was not attached to any cranial nerves, brain parenchyma, and blood vessel or to the dura mater. Histopathological examination confirmed the diagnosis of schwannoma. To our knowledge, no such case has been reported so far from this extremely rare location. Relevant literature is reviewed and hypothesis for ectopic location of these tumors has been highlighted. PMID:23293673

  5. 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

  6. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.

    PubMed

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

    2012-08-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic 'butterfly'-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term 'diencephalic-mesencephalic junction dysplasia' to characterize this autosomal recessive malformation. PMID:22822038

  7. Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly

    PubMed Central

    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

  8. Evaluation of Regional Storage-Discharge Parameters from Recession Analysis

    NASA Astrophysics Data System (ADS)

    Thomas, B. F.; Famiglietti, J. S.

    2014-12-01

    Subsurface storage and discharge are important components of watershed behaviors to rainfall-runoff responses. The current representations of subsurface-surface relationships are poor in land surface models; such poor representation limits the application of land surface models to evaluate current and future conjunctive water management scenarios. The aim of this research is to derive storage-discharge relationships using streamflow recession hydrograph analysis for watersheds located throughout California. Regression analyses are performed to evaluate empirical storage-discharge parameters as a function of physical watershed parameters and catchment hydrologic characteristics. We illustrate how such regional empirical evaluations provide functional relationships consistent with historic literature to develop parameters for surface-subsurface interaction in fine-resolution land surface models for California.

  9. 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

  10. 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

  11. 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

  12. 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.

  13. 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.

  14. Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

    PubMed Central

    Irum, Bushra; Khan, Arif O.; Wang, Qiwei; Kabir, Firoz; Khan, Asma A.; Husnain, Tayyab; Akram, Javed; Riazuddin, Sheikh

    2015-01-01

    Purpose This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases. Methods Affected individuals underwent a detailed ophthalmological and clinical examination, and slit-lamp photographs were ascertained for affected individuals who have not yet been operated for the removal of the cataractous lens. Blood samples were obtained, and genomic DNA was extracted from white blood cells. A genome-wide scan was completed with short tandem repeat (STR) markers, and the logarithm of odds (LOD) scores were calculated. Protein coding exons of CRYAB were sequenced, bi-directionally. Evolutionary conservation was investigated by aligning CRYAB orthologues, and the expression of Cryab in embryonic and postnatal mice lens was investigated with TaqMan probe. Results The clinical and ophthalmological examinations suggested that all affected individuals had nuclear cataracts. Genome-wide linkage analysis suggested a potential region on chromosome 11q23 harboring CRYAB. DNA sequencing identified a missense variation: c.34C>T (p.R12C) in CRYAB that segregated with the disease phenotype in the family. Subsequent interrogation of our entire cohort of familial cases identified a second familial case localized to chromosome 11q23 harboring a c.31C>T (p.R11C) mutation. In silico analyses suggested that the mutations identified in familial cases, p.R11C and p.R12C will not be tolerated by the three-dimensional structure of CRYAB. Real-time PCR analysis identified the expression of Cryab in mouse lens as early as embryonic day 15 (E15) that increased significantly until postnatal day 6 (P6) with steady level of expression thereafter. Conclusion Here, we report two novel missense mutations, p.R11C and p.R12C, in CRYAB associated with autosomal recessive congenital nuclear cataracts. PMID:26402864

  15. 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…

  16. 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.…

  17. 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.…

  18. 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…

  19. A Case Study of Teachers' Recess Practices Related to Students with Exceptional Learning Needs

    ERIC Educational Resources Information Center

    Campbell, Andrea E.

    2012-01-01

    Appropriate recess time for young students is an agent for healthy growth, development, and academic performance. Recess time for young students is dissipating due to increased pressure for higher test scores, problematic behaviors on the playground, and its inclusion within classroom discipline policies. Researchers have reported the majority…

  20. 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,…

  1. 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…

  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. 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…

  4. 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…

  5. 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…

  6. 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…

  7. 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... 40 Protection of Environment 33 2013-07-01 2013-07-01 false Sex-linked recessive lethal test in....5275 Sex-linked recessive lethal test in drosophila melanogaster. (a) Purpose. The sex-linked...

  8. 40 CFR 798.5275 - Sex-linked recessive lethal test in drosophila melanogaster.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... recommendations as specified under 40 CFR part 792, subpart J the following specific information shall be reported... 40 Protection of Environment 32 2011-07-01 2011-07-01 false Sex-linked recessive lethal test in....5275 Sex-linked recessive lethal test in drosophila melanogaster. (a) Purpose. The sex-linked...

  9. 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... 40 Protection of Environment 32 2014-07-01 2014-07-01 false Sex-linked recessive lethal test in....5275 Sex-linked recessive lethal test in drosophila melanogaster. (a) Purpose. The sex-linked...

  10. 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... 40 Protection of Environment 33 2012-07-01 2012-07-01 false Sex-linked recessive lethal test in....5275 Sex-linked recessive lethal test in drosophila melanogaster. (a) Purpose. The sex-linked...

  11. 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…

  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. National Postsecondary Enrollment Trends: Before, during, and after the Great Recession. Signature[TM] Report 1

    ERIC Educational Resources Information Center

    Dunbar, Afet; Hossler, Don; Shapiro, Doug; Chen, Jin; Martin, Sarah; Torres, Vasti; Zerquera, Desiree; Ziskin, Mary

    2011-01-01

    This report, "National Postsecondary Enrollment Trends: Before, During, and After the Great Recession," brings to light emerging national and regional patterns among traditional-age, first-time students enrolling in colleges and universities during the fall term each year from 2006 through 2010--before, during, and after the recession. Drawn from…

  14. 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…

  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. The State of Play: Gallup Survey of Principals on School Recess

    ERIC Educational Resources Information Center

    Robert Wood Johnson Foundation, 2010

    2010-01-01

    When most people talk about how to improve education, they tend to focus only on what happens in the classroom. But the most unexpected opportunity to boost learning lies outside the classroom: on the playground at recess. A new, first-of-its-kind Gallup poll reveals that elementary school principals overwhelmingly believe recess has a positive…

  17. 41 CFR 302-8.300 - Under what authority am I provided storage during school recess?

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 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 of Defense Overseas Dependents School (DoDDS) Teachers § 302-8.300 Under what authority am I provided...

  18. 41 CFR 302-8.300 - Under what authority am I provided storage during school recess?

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 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 of Defense Overseas Dependents School (DoDDS) Teachers § 302-8.300 Under what authority am I provided...

  19. 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…

  20. 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…

  1. 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…

  2. 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…

  3. 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

  4. Electrical Properties of Recessed Algan/Gan Schottky Diodes Under off-State Stress

    NASA Astrophysics Data System (ADS)

    Florovič, Martin; Kováč, Jaroslav; Benko, Peter; Chvála, Aleš; Škriniarová, Jaroslava; Kordó, Peter

    2014-09-01

    Electrical properties of recessed and non-recessed AlGaN/GaN Schottky diodes under off-state stress were investigated. The samples were consecutively stressed by the stepped negative bias (-60 V). Before and after the stress I-V and C-V characteristics were evaluated to verify the device degradation process. Finally, the degradation mechanism and the influence of AlGaN recessed layer thickness on the electrical properties of the Schottky diodes were analysed. It was found that the short time stress influence on I-V characteristics was most negligible for the non-recessed sample. Shallow and deep recessed samples exhibited initial trap filling and reverse current decrease. Generally it was found that the stress voltage near 60 V caused recoverable device degradation

  5. 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

  6. 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

  7. “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

  8. 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

  9. Gingival recession at the University College Hospital, Ibadan--prevalence and effect of some aetiological factors.

    PubMed

    Arowojolu, M O

    2000-01-01

    Four hundred and ninety-one consecutive patients comprising 259 (52.7%) males and 232 (47.3%) females who attended the periodontology clinic of the University College Hospital Dental Centre between May 1995 and May 1996, were recruited into this study. One hundred and thirty-seven patients comprising 101 males and 36 females were found to have gingival recession of at least one tooth surface representing 27.7%. The age range of the patients investigated was 16 years to 82 years; mean age was 39.2 +/- 14.4 for males and 34.1 +/- 14.4 for females. The peak incidence of gingival recession was in the 46-55 year age group. The incidence of gingival recession increases with advancing age with 0.04% in the 16-25 year age groups as compared to 58.5% in the 56-65 year age group. The aetiologic factors which appeared to be related to gingival recession were found in the following order of frequency: malalignment; chewing stick trauma; toothbrush trauma; calculus. Eighty-eight percent (88.8%) of malaligned teeth in the age range 66 years and above had recession. A higher percentage of the subjects who used chewing stick had recession (29.4%) when compared to those who used toothbrush alone (22%) P < 0.05--this is statistically significant. Of great concern is the prevalence of recession (58%) among those subjects who used toothbrush and chewing stick together, with majority of them having generalized gingival recession. The possible reasons for these different prevalence rates of recession are discussed, measures by which incidence of gingival recession can be reduced are briefly summarized. PMID:11714002

  10. Variables associated with children's physical activity levels during recess: the A-CLASS project

    PubMed Central

    2010-01-01

    Background School recess provides a daily opportunity for children to engage in physically active behaviours. However, few studies have investigated what factors may influence children's physical activity levels in this context. Such information may be important in the development and implementation of recess interventions. The aim of this study was to investigate the association between a range of recess variables and children's sedentary, moderate and vigorous physical activity in this context. Methods One hundred and twenty-eight children (39% boys) aged 9-10 years old from 8 elementary schools had their physical activity levels observed during school recess using the System for Observing Children's Activity and Relationships during Play (SOCARP). Playground variables data were also collected at this time. Multilevel prediction models identified variables that were significantly associated with children's sedentary, moderate and vigorous physical activity during recess. Results Girls engaged in 13.8% more sedentary activity and 8.2% less vigorous activity than boys during recess. Children with no equipment provision during recess engaged in more sedentary activity and less moderate activity than children provided with equipment. In addition, as play space per child increased, sedentary activity decreased and vigorous activity increased. Temperature was a significant negatively associated with vigorous activity. Conclusions Modifiable and unmodifiable factors were associated with children's sedentary, moderate and vigorous physical activity during recess. Providing portable equipment and specifying areas for activities that dominate the elementary school playground during recess may be two approaches to increase recess physical activity levels, though further research is needed to evaluate the short and long-term impact of such strategies. PMID:20937142

  11. Breast and Cervical Screening by Race/Ethnicity: Comparative Analyses Before and During the Great Recession

    PubMed Central

    King, Christopher J.; Chen, Jie; Garza, Mary A.; Thomas, Stephen B.

    2014-01-01

    Background Traditionally, economic recessions have resulted in decreased utilization of preventive health services. Purpose To explore racial and ethnic differences in breast and cervical cancer screening rates before and during the Great Recession. Methods The Medical Expenditure Panel was the source for identifying 10,894 women, ages 50–74 for breast screening and 19,957 women, ages 21–65 for cervical screening. Survey years included 2004-2005 and 2009-2010. Dependent variables were as follows: 1) receipt of mammogram within the past 2 years; and 2) receipt of a Pap smear within the past 3 years. The interaction of the recession and the likelihood of screening between whites and minorities was analyzed. Multivariate regressions were applied to estimate the likelihood of screening for the two time periods while controlling for a recession variable. Results Nationally, breast and cervical cancer screening rates dropped during the recession period; white women contributed most to the decline. However, there were significant improvements in timely screening for both cancers among Hispanics during the recession period. After controlling for the recession, African American women were more likely to have timely screenings compared to white women. Screening rates during the recession were lowest in the South, Midwest and West. Conclusion There was a national reduction in the percentages of women who obtained timely breast and cervical screenings during the Great Recession. Outreach efforts are needed to ensure that women who were not screened during the recession are screened. Widespread education about the Affordable Care Act may be helpful. PMID:24650838

  12. Long-term postoperative outcomes of bilateral lateral rectus recession vs unilateral recession-resection for intermittent exotropia

    PubMed Central

    Yang, Xian; Man, Teng-Teng; Tian, Qiao-Xia; Zhao, Gui-Qiu; Kong, Qing-Lan; Meng, Yan; Gao, Yan; Ning, Mei-Zhen

    2014-01-01

    AIM To discuss the long-term postoperative results of bilateral lateral rectus recession (BLR) and unilateral lateral rectus recession-medial rectus resection (RR) in therapy of intermittent exotropia. METHODS We retrospectively analyzed 213 cases of intermittent exotropia who underwent surgery between 2008 and 2010. The patients were grouped into BLR group and RR group. Motor outcomes were divided into three groups on the basis of the angle of deviation after surgery: overcorrection (esotropia/phoria >5Δ), orthophoria (esotropia/phoria ≤5Δ to exotropia/phoria ≤10Δ), and undercorrection/recurrence (exotropia/phoria >10Δ). Titmus test was used to evaluate stereoacuity, the stereoacuity <800s of arc meaned the patients had stereopsis. Surgical outcome including motor criteria and sensory status were compared at postoperative 6, 12, 24mo and at 36mo examination between groups. RESULTS At 12, 24mo after surgery, the motor outcomes had no difference (P>0.05) between groups. However, the motor outcomes at 6, 36mo were signally different in each group, indicating the success rate in RR group at 6mo was higher than that in BLR group (83.02% vs 82.24%, P<0.05) but the result was contrary at the 3y examination (60.75% vs 43.40%, P<0.05). No statistical significance were found in the sensory outcomes between the groups at mean of 3.7y follow-up. CONCLUSION The motor outcomes in RR group were better than in BLR group at 6mo after surgery, while the 3y outcomes were better in BLR group. This may be due to the recurrence rate of the BLR was lower than the RR group's. PMID:25540763

  13. 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

  14. An Employment Policy to Fight Recession and Inflation: A Policy Statement by The National Council on Employment Policy.

    ERIC Educational Resources Information Center

    Briggs, Vernon; And Others

    This publication contains An Employment Policy to Fight Recession and Inflation--the policy statement of the National Council on Employment Policy--and three background papers by individual members. The statement addresses these topics: Will the Recession End Inflation?, Which Anti-Recession Measures?, But What About Inflation?, and A Policy of…

  15. 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…

  16. 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…

  17. Molecular and phenotypic analysis of 25 recessive, homozygous-viable alleles at the mouse agouti locus.

    PubMed Central

    Miltenberger, Rosalynn J; Wakamatsu, Kazumasa; Ito, Shosuke; Woychik, Richard P; Russell, Liane B; Michaud, Edward J

    2002-01-01

    Agouti is a paracrine-acting, transient antagonist of melanocortin 1 receptors that specifies the subapical band of yellow on otherwise black hairs of the wild-type coat. To better understand both agouti structure/function and the germline damage caused by chemicals and radiation, an allelic series of 25 recessive, homozygous-viable agouti mutations generated in specific-locus tests were characterized. Visual inspection of fur, augmented by quantifiable chemical analysis of hair melanins, suggested four phenotypic categories (mild, moderate, umbrous-like, severe) for the 18 hypomorphs and a single category for the 7 amorphs (null). Molecular analysis indicated protein-coding alterations in 8 hypomorphs and 6 amorphs, with mild-moderate phenotypes correlating with signal peptide or basic domain mutations, and more devastating phenotypes resulting from C-terminal lesions. Ten hypomorphs and one null demonstrated wild-type coding potential, suggesting that they contain mutations elsewhere in the > or = 125-kb agouti locus that either reduce the level or alter the temporal/spatial distribution of agouti transcripts. Beyond the notable contributions to the field of mouse germ cell mutagenesis, analysis of this allelic series illustrates that complete abrogation of agouti function in vivo occurs most often through protein-coding lesions, whereas partial loss of function occurs slightly more frequently at the level of gene expression control. PMID:11861569

  18. 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

  19. Influence of morphological parameters on the development of gingival recession in class III malocclusion.

    PubMed

    Warmuz, Justyna; Jagielak, Maciej; Botzenhart, Ute; Seeliger, Julia; Gedrange, Tomasz; Dominiak, Marzena

    2016-07-01

    Cephalometric analysis, including both basic cranio- and gnathometric measurements and detailed evaluation of the construction of skeletal, muscular and mucosal systems combined with estimation of the risk of recession's occurrence, can be used to determine the direction of therapy and ensure appropriate aesthetic-functional effects of treatment. The objective of the present study was to compare the influence of the chosen morphologic parameters on the development of gingival recession in the front part of the jaw in patients with Angle class III. The research material was based on the medical documentation of 1800 patients. Sixty generally healthy patients qualified for the research with prognathism. On the basis of the side-head cephalograms, measurements were carried out to describe the bone structure in the front section of the lower jaw. The lower incisor teeth set-up was also analyzed. Gum recession of the lower incisor teeth was assessed on the basis of the inside-mouth photos of the patients with class III malocclusion. The occurrence of recession in a further 4 patients resulted from such a positioning of the lower teeth. In patients in the first group, treated with complex ortho-surgical treatment, the lower incisor teeth were adjusted much more vertically in the alveola and, thus, recession occurred only in one patient. Complex orthodontic-surgical therapy contributes to recession development to a lesser degree than the sham treatment and makes it a safe alternative therapy in patients with high diathesis for occurrence or progression of an existing recession. PMID:26162503

  20. 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. PMID:24799569

  1. 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. PMID:23650330

  2. 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.

  3. 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

  4. Autosomal recessive multiple pterygium syndrome: a new variant?

    PubMed

    Aslan, Y; Erduran, E; Kutlu, N

    2000-07-31

    Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. Radiological examination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likely due to the presence of three similarly affected siblings and normal parents. PMID:10925380

  5. 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.

  6. 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.

  7. Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation

    PubMed Central

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

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic–mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic–mesencephalic junction with a characteristic ‘butterfly’-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term ‘diencephalic–mesencephalic junction dysplasia’ to characterize this autosomal recessive malformation. PMID:22822038

  8. 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

  9. 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.

  10. 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

  11. 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

  12. 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.

  13. 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

  14. Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia

    PubMed Central

    Charlesworth, Gavin; Angelova, Plamena R.; Bartolomé-Robledo, Fernando; Ryten, Mina; Trabzuni, Daniah; Stamelou, Maria; Abramov, Andrey Y.; Bhatia, Kailash P.; Wood, Nicholas W.

    2015-01-01

    Reports of primary isolated dystonia inherited in an autosomal-recessive (AR) manner, often lumped together as “DYT2 dystonia,” have appeared in the scientific literature for several decades, but no genetic cause has been identified to date. Using a combination of homozygosity mapping and whole-exome sequencing in a consanguineous kindred affected by AR isolated dystonia, we identified homozygous mutations in HPCA, a gene encoding a neuronal calcium sensor protein found almost exclusively in the brain and at particularly high levels in the striatum, as the cause of disease in this family. Subsequently, compound-heterozygous mutations in HPCA were also identified in a second independent kindred affected by AR isolated dystonia. Functional studies suggest that hippocalcin might play a role in regulating voltage-dependent calcium channels. The identification of mutations in HPCA as a cause of AR primary isolated dystonia paves the way for further studies to assess whether “DYT2 dystonia” is a genetically homogeneous condition or not. PMID:25799108

  15. 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

  16. Recession, debt and mental health: challenges and solutions

    PubMed Central

    2009-01-01

    Background During the economic downturn, the link between recession and health has featured in many countries' media, political, and medical debate. This paper focuses on the previously neglected relationship between personal debt and mental health. Aims Using the UK as a case study, this paper considers the public health challenges presented by debt to mental health. We then propose solutions identified in workshops held during the UK Government's Foresight Review of Mental Capital and Wellbeing. Results Within their respective sectors, health professionals should receive basic ‘debt first aid’ training, whilst all UK financial sector codes of practice should – as a minimum – recognise the existence of customers with mental health problems. Further longitudinal research is also needed to ‘unpack’ the relationship between debt and mental health. Across sectors, a lack of co-ordinated activity across health, money advice, and creditor organisations remains a weakness. A renewed emphasis on co-ordinated ‘debt care pathways’ and better communication between local health and advice services is needed. Discussion The relationship between debt and mental health presents a contemporary public health challenge. Solutions exist, but will require action and investment at a time of competition for funds. PMID:22477896

  17. TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.

    PubMed

    Battelino, Saba; Klancar, Gasper; Kovac, Jernej; Battelino, Tadej; Trebusak Podkrajsek, Katarina

    2016-05-01

    Nonsyndromic genetic deafness is highly heterogeneous in its clinical presentation, pattern of inheritance and underlying genetic causes. Mutations in TMPRSS3 gene encoding transmembrane serine protease account for <1 % of autosomal recessive nonsyndromic hearing loss (ARNSHL) in Caucasians. Targeted next generation sequencing in the index family with profound deaf parents and a son, and Sanger sequencing of selected TMPRSS3 gene regions in a cohort of thirty-five patients with suspected ARNSHL was adopted. A son and his mother in the index family were homozygous for TMPRSS3 c.208delC (p.His70Thrfs*19) variant. Father was digenic compound heterozygote for the same variant and common GJB2 c.35delG variant. Three additional patients from the ARNSHL cohort were homozygous for TMPRSS3 c.208delC. TMPRSS3 defects seem to be an important cause of ARNSHL in Slovenia resulting in uniform phenotype with profound congenital hearing loss, and satisfactory hearing and speech recognition outcome after cochlear implantation. Consequently, TMPRSS3 gene analysis should be included in the first tier of genetic investigations of ARNSHL along with GJB2 and GJB6 genes. PMID:26036852

  18. 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

  19. Economic suicides in the Great Recession in Europe and North America.

    PubMed

    Reeves, Aaron; McKee, Martin; Stuckler, David

    2014-09-01

    There has been a substantial rise in 'economic suicides' in the Great Recessions afflicting Europe and North America. We estimate that the Great Recession is associated with at least 10 000 additional economic suicides between 2008 and 2010. A critical question for policy and psychiatric practice is whether these suicide rises are inevitable. Marked cross-national variations in suicides in the recession offer one clue that they are potentially avoidable. Job loss, debt and foreclosure increase risks of suicidal thinking. A range of interventions, from upstream return-to-work programmes through to antidepressant prescriptions may help mitigate suicide risk during economic downturn. PMID:24925987

  20. 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

  1. Children's physical activity levels during school recess: a quasi-experimental intervention study

    PubMed Central

    Ridgers, Nicola D; Stratton, Gareth; Fairclough, Stuart J; Twisk, Jos WR

    2007-01-01

    Background Recess provides a daily opportunity for children to engage in moderate-to-vigorous (MVPA) and vigorous physical activity (VPA). Limited research has investigated the effects of recess-based interventions on physical activity using large sample sizes whilst investigating variables that may influence the intervention effect. The aim of the study was to investigate the short-term effects of a playground markings and physical structures intervention on recess physical activity. A secondary aim was to investigate the effects of covariates on the intervention. Methods 150 boys and 147 girls were randomly selected from 26 elementary schools to wear uni-axial accelerometers that quantified physical activity every 5 seconds during recess. Fifteen schools located in deprived areas in one large urban city in England received funding through a national initiative to redesign the playground environment. Eleven schools served as matched socioeconomic controls. Data were collected at baseline and 6-weeks following playground intervention. Recess MVPA and VPA levels adjusted for pupil- and school-level covariates (baseline physical activity, age, gender, recess length, body mass index) were analysed using multilevel analyses. Results Positive but non-significant intervention effects were found for MVPA and VPA when confounding variables were added to the model. Gender was a significant predictor of recess physical activity, with boys engaging in more MVPA and VPA than girls. Significant interactions for MVPA revealed that the intervention effect was stronger for younger elementary aged school children compared to older children, and the intervention effect increased as daily recess duration increased. Conclusion The playground redesign intervention resulted in small but non-significant increases in children's recess physical activity when school and pupil level variables were added to the analyses. Changing the playground environment produced a stronger intervention

  2. Comparison of Surgical Outcomes with Unilateral Recession and Resection According to Angle of Deviation in Basic Intermittent Exotropia

    PubMed Central

    Cho, Soon Young; Jung, Jong Hyun

    2015-01-01

    Purpose The purpose of this study is to compare the surgical outcomes and near stereoacuities after unilateral medial rectus (MR) muscle resection and lateral rectus (LR) recession according to deviation angle in basic intermittent exotropia, X(T). Methods Ninety patients with basic type X(T) were included in this study. They underwent unilateral recession of the LR and resection of the MR and were followed postoperatively for at least 12 months. Patients were divided into three groups according to their preoperative deviation angle: group 1 ≤20 prism diopter (PD), 20 PD< group 2 <40 PD, and group 3 ≥40 PD. Surgical outcomes and near stereoacuities one year after surgery were evaluated. Surgical success was defined as having a deviation angle range within ±10 PD for both near and distance fixation. Results Among 90 patients, groups 1, 2, and 3 included 30 patients each. The mean age in groups 1, 2, and 3 was 9.4 years, 9.4 years, and 11.0 years, respectively. The surgical success rates one year after surgery for groups 1, 2, and 3 were 80.0%, 73.3%, and 73.3% (chi-square test, p = 0.769), respectively. The undercorrection rates for groups 1, 2, and 3 were 16.7%, 23.3%, and 26.7%, and the overcorrection rates were 3.3%, 3.3%, and 0%, respectively. The mean preoperative near stereoacuities for groups 1, 2, and 3 were 224.3 arcsec, 302.0 arcsec, and 1,107.3 arcsec, and the mean postoperative near stereoacuities were 218.3 arcsec, 214.7 arcsec, and 743.0 arcsec (paired t-test; p = 0.858, p = 0.379, p = 0.083), respectively. Conclusions In basic X(T) patients, the amount of angle deviation has no influence on surgical outcomes in unilateral LR recession and MR resection. The near stereoacuities by one year after LR recession and MR resection for intermittent X(T) were not different among patient groups separated by preoperative deviation angle. PMID:26635458

  3. 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

  4. 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

  5. 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

  6. Atmospheric Modeling of the Martian Polar Regions: CRISM EPF Coverage During the South Polar Spring Recession

    NASA Astrophysics Data System (ADS)

    Brown, A. J.; McGuire, P.; Wolff, M. J.

    2008-03-01

    We describe efforts to model dust and ice aerosols content and soils and icy surface reflectance in the Martian southern polar region during spring recession (Ls = 152-320) using CRISM emission phase function (EPF) observations.

  7. 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

  8. The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition.

    PubMed Central

    Penman, D G; Lilford, R J

    1989-01-01

    We report the cases of two sibs with the megacystis-microcolon-intestinal hypoperistalsis syndrome. The parents are first cousins. These cases further support the view that this syndrome is inherited in an autosomal recessive fashion. PMID:2918532

  9. 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

  10. 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

  11. Baseflow recession and recharge as nonlinear storage processes

    NASA Astrophysics Data System (ADS)

    Wittenberg, Hartmut

    1999-04-01

    Discharge in many rivers is often fed by outflow from a shallow groundwater reservoir. It is becoming clear that the outflow from this aquifer is not linearly proportional to storage as is commonly assumed in many algorithms. Numerical analysis of flow recession curves from about 100 river gauging stations instead reveals a nonlinear relationship between baseflow, Q, and storage, S, for which the equation S=aQb was adopted. Values of the exponent b are found by calibration to be between 0 and 1 but with a high concentration around 0·5, which is in accordance with the findings of other studies and theoretical approaches yielding b=0·5 for unconfined aquifers and relating the coefficient a to catchment properties, primarily area and shape of basin, pore volume and transmissivity. This non-linear reservoir function is proposed as a more realistic alternative to the linear reservoir function.The relatively fast response of groundwater flow to rainfall is mainly a result of the increase of hydraulic head of the groundwater reservoir accelerating the exfiltration of old, pre-event water into the river bed. As fissure and pore volumes communicate hydraulically, it appears physically reasonable to model the system by one non-linear reservoir for catchments, or parts of them, instead of applying independent parallel linear reservoirs. The non-linear reservoir algorithms are supported by an analytical derivation. They are extended for the automatic separation of baseflow from a time-series of daily discharge in rivers and the computation of storage and effective recharge of groundwater in river basins by inverse nonlinear reservoir routing. The time-series obtained allow the identification and quantification of long-term changes to the water balance. Relationships between computed groundwater storage and observed groundwater level can also be established.

  12. Mapping of the recessive white locus and analysis of the tyrosinase gene in chickens.

    PubMed

    Sato, S; Otake, T; Suzuki, C; Saburi, J; Kobayashi, E

    2007-10-01

    An F(2) chicken population of 265 individuals, obtained from an intercross between the Japanese Game (colored plumage) and the White Plymouth Rock (the recessive white) and genotyped for microsatellite markers, was used for determining the locus of the gene responsible for the recessive white plumage phenotype in chickens. Two hundred twenty-five markers were mapped in 28 linkage groups. Linkage analysis revealed that the recessive white gene was mapped to chromosome 1. Detailed analysis using additional markers uncovered a significant linkage between 2 new markers, mapped to the flanking region of the tyrosinase gene, which is associated with skin and plumage color. The sequence of the tyrosinase gene was investigated in recessive white chickens and colored chickens. There were no obvious differences in the tyrosinase gene exons between the recessive white chicken and the colored chicken. However, sequence analysis of tyrosinase intron 4 in the recessive white chicken revealed a presence of an insertion of an avian retroviral sequence. The White Plymouth Rock and the F(2) generation with white plumage were identified as homozygous carriers of the retroviral sequence. Expression of the normal transcript containing exon 5 was substantially decreased in the recessive white chicken compared with the colored chicken. Some abnormal tyrosinase gene transcripts were expressed in the skin of the White Plymouth Rock: reverse transcription PCR products amplified from exon 3 to intron 4 and from retroviral sequence 3' long terminal repeat to exon 5. Based on these results, it was confirmed that an avian retroviral sequence insertion in the tyrosinase gene was the cause of recessive white phenotype in chickens. PMID:17878441

  13. 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.

  14. Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa.

    PubMed

    Geyer, Mark B; Radhakrishnan, Kavita; Giller, Roger; Umegaki, Noriko; Harel, Sivan; Kiuru, Maija; Morel, Kimberly D; LeBoeuf, Nicole; Kandel, Jessica; Bruckner, Anna; Fabricatore, Sandra; Chen, Mei; Woodley, David; McGrath, John; Baxter-Lowe, LeeAnn; Uitto, Jouni; Christiano, Angela M; Cairo, Mitchell S

    2015-09-01

    Recessive dystrophic epidermolysis bullosa is a severe, incurable, inherited blistering disease caused by COL7A1 mutations. Emerging evidence suggests hematopoietic progenitor cells (HPCs) can be reprogrammed into skin; HPC-derived cells can restore COL7 expression in COL7-deficient mice. We report two children with recessive dystrophic epidermolysis bullosa treated with reduced-toxicity conditioning and HLA-matched HPC transplantation. PMID:26148662

  15. Surface recession characteristics of a cryogenic insulation subjected to arc-tunnel heating

    NASA Technical Reports Server (NTRS)

    Pittman, C. M.; Brown, R. D.

    1975-01-01

    Specimens of a cryogenic insulation, proposed for use on the space shuttle external tank, were tested in an arc tunnel over a range of heating rates, pressures, and enthalpies corresponding to the shuttle ascent environment. A regression analysis was used to correlate the test data. Correlation equations involving surface recession rate as a function of heating rate, pressure, and enthalpy were developed. These equations can be used to make total surface recession predictions for shuttle ascent flight environments.

  16. Tissue culture correlational study of genetic cholangiopathy of autosomal recessive polycystic kidney disease.

    PubMed

    Nakanuma, Yasuni; Sato, Yasunori; Harada, Kenichi

    2013-01-01

    Cholangiocytes are epithelial cells that line the biliary tract and are also known as biliary epithelial cells (BECs). In vitro culture studies of BECs in correlation with tissue section examination may give us a comprehensive analysis of biliary tract diseases. Herein, we discuss genetic cholangiopathy of autosomal recessive polycystic kidney disease (ARPKD), mainly using a polycystic kidney (PCK) rat, an animal model of ARPKD. The hepatobiliary lesions in ARPKD patients (Caroli's disease and congenital hepatic fibrosis) and in PCK rats are speculated to be related to mutations to polycystic kidney and hepatic disease 1 (PKHD1) which have been recently demonstrated, though the exact causal relation between these mutations and hepatobiliary pathology remain to be clarified. Recently we clarified that BECs of PCK rat showed increased cell proliferation followed by irregular dilatation of intrahepatic bile ducts. We also identified the essential involvement of the MEK5-ERK5 pathway in the abnormal proliferation of BECs in the PCK rat. The degradation of laminin and type IV collagen (basal membrane components of bile ducts) was closely related to the biliary dysgenesis and cystogenesis in the PCK rats. BECs also showed mesenchymal phenotype followed by progressive portal tract fibrosis, indicating TGF-β1 may be involved in this acquisition of mesenchymal phenotype. Detailed tissue culture correlation studies of ARPKD and PCK rats are mandatory to evaluate the pathogenesis of this genetic cholangiopathy. PMID:23097114

  17. 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

  18. 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.

  19. 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

  20. 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

  1. Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

    PubMed Central

    Pagnamenta, Alistair T.; Howard, Malcolm F.; Wisniewski, Eva; Popitsch, Niko; Knight, Samantha J.L.; Keays, David A.; Quaghebeur, Gerardine; Cox, Helen; Cox, Phillip; Balla, Tamas; Taylor, Jenny C.; Kini, Usha

    2015-01-01

    Polymicrogyria (PMG) is a structural brain abnormality involving the cerebral cortex that results from impaired neuronal migration and although several genes have been implicated, many cases remain unsolved. In this study, exome sequencing in a family where three fetuses had all been diagnosed with PMG and cerebellar hypoplasia allowed us to identify regions of the genome for which both chromosomes were shared identical-by-descent, reducing the search space for causative variants to 8.6% of the genome. In these regions, the only plausibly pathogenic mutations were compound heterozygous variants in PI4KA, which Sanger sequencing confirmed segregated consistent with autosomal recessive inheritance. The paternally transmitted variant predicted a premature stop mutation (c.2386C>T; p.R796X), whereas the maternally transmitted variant predicted a missense substitution (c.5560G>A; p.D1854N) at a conserved residue within the catalytic domain. Functional studies using expressed wild-type or mutant PI4KA enzyme confirmed the importance of p.D1854 for kinase activity. Our results emphasize the importance of phosphoinositide signalling in early brain development. PMID:25855803

  2. Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa.

    PubMed

    Tolar, Jakub; McGrath, John A; Xia, Lily; Riddle, Megan J; Lees, Chris J; Eide, Cindy; Keene, Douglas R; Liu, Lu; Osborn, Mark J; Lund, Troy C; Blazar, Bruce R; Wagner, John E

    2014-05-01

    Spontaneous reversion of disease-causing mutations has been observed in some genetic disorders. In our clinical observations of severe generalized recessive dystrophic epidermolysis bullosa (RDEB), a currently incurable blistering genodermatosis caused by loss-of-function mutations in COL7A1 that results in a deficit of type VII collagen (C7), we have observed patches of healthy-appearing skin on some individuals. When biopsied, this skin revealed somatic mosaicism resulting in the self-correction of C7 deficiency. We believe this source of cells could represent an opportunity for translational 'natural' gene therapy. We show that revertant RDEB keratinocytes expressing functional C7 can be reprogrammed into induced pluripotent stem cells (iPSCs) and that self-corrected RDEB iPSCs can be induced to differentiate into either epidermal or hematopoietic cell populations. Our results give proof-of-principle that an inexhaustible supply of functional patient-specific revertant cells can be obtained--potentially relevant to local wound therapy and systemic hematopoietic cell transplantation. This technology may also avoid some of the major limitations of other cell therapy strategies, e.g., immune rejection and insertional mutagenesis, which are associated with viral- and nonviral-mediated gene therapy. We believe this approach should be the starting point for autologous cellular therapies using 'natural' gene therapy in RDEB and other diseases. PMID:24317394

  3. 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

  4. 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

  5. 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. PMID:24791036

  6. Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia

    PubMed Central

    Rafi, Syed K.; Olm-Shipman, Adam J.; Wilson, Nathan R.; Abhyankar, Sunil; Ganter, Brigitte; Furness, L. Mike; Fang, Jianwen; Calado, Rodrigo T.

    2013-01-01

    We recently identified 2 siblings afflicted with idiopathic, autosomal recessive aplastic anemia. Whole-exome sequencing identified a novel homozygous missense mutation in thrombopoietin (THPO, c.112C>T) in both affected siblings. This mutation encodes an arginine to cysteine substitution at residue 38 or residue 17 excluding the 21-amino acid signal peptide of THPO receptor binding domain (RBD). THPO has 4 conserved cysteines in its RBD that form 2 disulfide bonds. Our in silico modeling predicts that introduction of a fifth cysteine may disrupt normal disulfide bonding to cause poor receptor binding. In functional assays, the mutant-THPO–containing media shows two- to threefold reduced ability to sustain UT7-TPO cells, which require THPO for proliferation. Both parents and a sibling with heterozygous R17C change have reduced platelet counts, whereas a sibling with wild-type sequence has normal platelet count. Thus, the R17C partial loss-of-function allele results in aplastic anemia in the homozygous state and mild thrombocytopenia in the heterozygous state in our family. Together with the recent identification of THPO receptor (MPL) mutations and the effects of THPO agonists in aplastic anemia, our results have clinical implications in the diagnosis and treatment of patients with aplastic anemia and highlight a role for the THPO-MPL pathway in hematopoiesis in vivo. PMID:24085763

  7. Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?

    PubMed

    Straub, Volker; Bertoli, Marta

    2016-02-01

    Autosomal recessive limb girdle muscular dystrophies (LGMD2) are a group of genetically heterogeneous diseases that are typically characterised by progressive weakness and wasting of the shoulder and pelvic girdle muscles. Many of the more than 20 different conditions show overlapping clinical features with other forms of muscular dystrophy, congenital, myofibrillar or even distal myopathies and also with acquired muscle diseases. Although individually extremely rare, all types of LGMD2 together form an important differential diagnostic group among neuromuscular diseases. Despite improved diagnostics and pathomechanistic insight, a curative therapy is currently lacking for any of these diseases. Medical care consists of the symptomatic treatment of complications, aiming to improve life expectancy and quality of life. Besides well characterised pre-clinical tools like animal models and cell culture assays, the determinants of successful drug development programmes for rare diseases include a good understanding of the phenotype and natural history of the disease, the existence of clinically relevant outcome measures, guidance on care standards, up to date patient registries, and, ideally, biomarkers that can help assess disease severity or drug response. Strong patient organisations driving research and successful partnerships between academia, advocacy, industry and regulatory authorities can also help accelerate the elaboration of clinical trials. All these determinants constitute aspects of translational research efforts and influence patient access to therapies. Here we review the current status of determinants of successful drug development programmes for LGMD2, and the challenges of translating promising therapeutic strategies into effective and accessible treatments for patients. PMID:26810373

  8. Targeted carrier screening for four recessive disorders: high detection rate within a founder population.

    PubMed

    Mathijssen, Inge B; Henneman, Lidewij; van Eeten-Nijman, Janneke M C; Lakeman, Phillis; Ottenheim, Cecile P E; Redeker, Egbert J W; Ottenhof, Winnie; Meijers-Heijboer, Hanne; van Maarle, Merel C

    2015-03-01

    In a genetically isolated community in the Netherlands four severe recessive genetic disorders occur at relatively high frequency (pontocerebellar hypoplasia type 2 (PCH2), fetal akinesia deformation sequence (FADS), rhizomelic chondrodysplasia punctata type 1 (RCDP1), and osteogenesis imperfecta (OI) type IIB/III. Over the past decades multiple patients with these disorders have been identified. This warranted the start of a preconception outpatient clinic, in 2012, aimed at couples planning a pregnancy. The aim of our study was to evaluate the offer of targeted genetic carrier screening as a method to identify high-risk couples for having affected offspring in this high-risk subpopulation. In one year, 203 individuals (92 couples and 19 individuals) were counseled. In total, 65 of 196 (33.2%) tested individuals were carriers of at least one disease, five (7.7%) of them being carriers of two diseases. Carrier frequencies of PCH2, FADS, RCDP1, and OI were 14.3%, 11.2%, 6.1%, and 4.1% respectively. In individuals with a positive family history for one of the diseases, the carrier frequency was 57.8%; for those with a negative family history this was 25.8%. Four PCH2 carrier-couples were identified. Thus, targeted (preconception) carrier screening in this genetically isolated population in which a high prevalence of specific disorders occurs detects a high number of carriers, and is likely to be more effective compared to cascade genetic testing. Our findings and set-up can be seen as a model for carrier screening in other high-risk subpopulations and contributes to the discussion about the way carrier screening can be offered and organized in the general population. PMID:25641760

  9. 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

  10. 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

  11. [Clinical study of the relationship between the lateral recesses and the nerve roots].

    PubMed

    Lian, P; Sun, R; Jia, L

    1997-04-01

    To explicate the relationship and the clinical signification between the normal or narrow lateral recesses and the nerve roots, we measured the diameter of the entrans zone of the lateral recess, the interval between the upper articular processes and the interval between the nerve root and ab line on 50 normal cases, 43 narrow cases and 32 stenosis cases with VIDS image analysis system. The results showed that the nerve root was in the center side of the ab line in the normal station, with the degrees of the degeneration and cohesion ncreasing, the nerve root was in the lateral recess side of the ab line, and was compressed by the lateral recess. The authors considered that the real clinical signification of the entrance zone of the lateral recess was danger to the nerve root, but the deciding factors were the degrees of the degeneration and cohesion of the upper articular processes. The pathological conditions that resulted in the stenosis of the lateral recess and dangered the nerve root such as disc, flavum ligament and posterior port of the fibra ring were discussed in the article. PMID:10374545

  12. Evaluating the effect of partial contributing storage on the storage-discharge function from recession analysis

    NASA Astrophysics Data System (ADS)

    Chen, X.; Wang, D.

    2013-10-01

    Hydrograph recession during dry periods has been used to construct water storage-discharge relationships and to quantify storage dynamics and evaporation when streamflow data is available. However, variable hydrologic connectivity among hillslope-riparian-stream zones may affect the lumped storage-discharge relationship, and as a result, affect the estimation of evaporation and storage change. Given observations of rainfall and runoff, and remote-sensing-based observations of evaporation, the ratio (α) between estimated daily evaporation from recession analysis and observed evaporation, and the ratio (β) between estimated contributing storage and total watershed storage are computed for 9 watersheds located in different climate regions. Both evaporation and storage change estimation from recession analysis are underestimated due to the effect of partial contributing storage, particularly when the discharge is low. It was found that the values of α decrease significantly during individual recession events, while the values of β are relatively stable during a recession event. The values of β are negatively correlated with the water table depth and vary significantly among recession events. The partial contributing storage effect is one possible cause for the multi-valued storage-discharge relationship.

  13. Evaluating the effect of partial contributing storage on storage-discharge function from recession analysis

    NASA Astrophysics Data System (ADS)

    Chen, X.; Wang, D.

    2013-05-01

    Hydrograph recession during dry periods has been used to construct water storage-discharge relationship, and to quantify storage dynamics and evaporation when streamflow data is available. However, variable hydrologic connectivity among hillslope-riparian-stream zones may affect the lumped storage-discharge relationship, and as a result, affect the estimation of evaporation and storage change. Given observations of rainfall and runoff, and remote sensing-based observation of evaporation, the ratio (α) between estimated daily evaporation from recession analysis and observed evaporation, and the ratio (β) between estimated contributing storage and total watershed storage are computed for 9 watersheds located in different climate regions. Both evaporation and storage change estimation from recession analysis are underestimated due to the effect of partial contributing storage, particularly when the discharge is low. It was found that the values of α decrease significantly during individual recession events, while the values of β are relatively stable during a recession event. The values of β are negatively correlated with the water table depth, and vary significantly among recession events. The partial contributing storage effect is one possible cause for the multi-valued storage-discharge relationship.

  14. 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

  15. Promising new baseflow separation and recession analysis methods applied to streamflow at Glendhu Catchment, New Zealand

    NASA Astrophysics Data System (ADS)

    Stewart, M. K.

    2015-06-01

    Understanding and modelling the relationship between rainfall and runoff has been a driving force in hydrology for many years. Baseflow separation and recession analysis have been two of the main tools for understanding runoff generation in catchments, but there are many different methods for each. The new baseflow separation method presented here (the bump and rise method or BRM) aims to accurately simulate the shape of tracer-determined baseflow or pre-event water. Application of the method by calibrating its parameters, using (a) tracer data or (b) an optimising method, is demonstrated for the Glendhu Catchment, New Zealand. The calibrated BRM algorithm is then applied to the Glendhu streamflow record. The new recession approach advances the thesis that recession analysis of streamflow alone gives misleading information on catchment storage reservoirs because streamflow is a varying mixture of components of very different origins and characteristics (at the simplest level, quickflow and baseflow as identified by the BRM method). Recession analyses of quickflow, baseflow and streamflow show that the steep power-law slopes often observed for streamflow at intermediate flows are artefacts due to mixing and are not representative of catchment reservoirs. Applying baseflow separation before recession analysis could therefore shed new light on water storage reservoirs in catchments and possibly resolve some current problems with recession analysis. Among other things it shows that both quickflow and baseflow reservoirs in the studied catchment have (non-linear) quadratic characteristics.

  16. On the transition of base flow recession from early stage to late stage

    NASA Astrophysics Data System (ADS)

    Ghosh, Debapi K.; Wang, Dingbao; Zhu, Tingju

    2016-02-01

    This paper is focused on the transition of base flow recession from early stage to late stage. The volume flow rate that takes place when such a transition occurs is identified for each of the twenty-three recession events observed at the Panola Mountain Research Watershed (PMRW) in Georgia, USA, using a newly developed cumulative regression analysis method. Meanwhile, the flow at the watershed outlet, which was recorded when the discharge at the perennial stream head diminishes to zero, is identified for each recession event. As evidenced by a correlation coefficient of 0.90, these two characteristic flows are found to be highly correlated, suggesting a fundamental linkage between the transition of base flow recession from early stage to late stage and the drying up of ephemeral streams. During the early stage, the contraction of ephemeral streams largely controls the recession behavior, whereas in the late stage when perennial streams dominate the flowing streams, the contraction of flowing streams is minimal and groundwater hydraulics governs the recession behavior.

  17. [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). PMID:27032255

  18. 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.

  19. 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

  20. 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.

  1. 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

  2. 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

  3. 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

  4. A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12.

    PubMed

    Chouery, E; Kfoury, J; Delague, V; Jalkh, N; Bejjani, P; Serre, J L; Mégarbané, A

    2008-10-01

    Primary torsion dystonia is a clinically and genetically heterogeneous group of movement disorders. Fifteen different types of dystonia have been described to date, of whom 14 loci have been mapped, but only seven genes identified. Several different modes of inheritance have been described, including autosomal dominant transmission with reduced penetrance (12 loci), recessive X-linked (one locus), and autosomal recessive transmission (three loci). In this study, we describe the localization of a novel form of autosomal recessive, primary focal torsion dystonia using a genomewide search in a large consanguineous Lebanese family with three affected individuals. Homozygosity mapping with 382 microsatellite markers was conducted. Linkage analysis and haplotype construction allowed us to identify a novel locus designated as DYT17, within a 20.5-Mb interval on chromosome 20. Of the 270 known genes spread on this interval, 27 candidate genes were tested and excluded as responsible for the disease. Fine mapping by identification of other dystonia families linked to chromosome 20 and sequencing of candidate genes in the refined interval is required in order to identify the causative gene in DYT17. PMID:18688663

  5. Adverse effects associated with a bioabsorbable guided tissue regeneration device in the treatment of human gingival recession defects. A clinicopathologic case report.

    PubMed

    Tatakis, D N; Trombelli, L

    1999-05-01

    This clinicopathologic case report documents an adverse effect associated with the use of a polylactic acid-based barrier in the treatment of human gingival recession defects. A total of 27 consecutively treated patients, in whom guided tissue regeneration with a polylactic acid barrier was used to correct gingival recession defects, were evaluated. This adverse effect consisted of a midradicular-apical swelling, generally asymptomatic, with no apparent predilection for gender, age, tooth type or location (maxilla/mandible), or surgical procedure. It was observed in 14 of 27 (52%) patients and 22 of 41 (54%) defects. The swelling decreased in size over time and in most cases, it completely resolved within 12 months postsurgery. Histopathologic evaluation of a 14-week specimen indicated characteristics (multinucleated giant cells, foamy macrophages) consistent with a foreign body reaction. These findings suggest that patients undergoing GTR procedures with synthetic absorbable devices for the treatment of gingival recession defects should be advised of the possible occurrence of such an adverse effect. PMID:10368059

  6. Effects of Tip Clearance and Casing Recess on Heat Transfer and Stage Efficiency in Axial Turbines

    NASA Technical Reports Server (NTRS)

    Ameri, A. A.; Steinthorsson, E.; Rigby, David L.

    1998-01-01

    Calculations were performed to assess the effect of the tip leakage flow on the rate of heat transfer to blade, blade tip and casing. The effect on exit angle and efficiency was also examined. Passage geometries with and without casing recess were considered. The geometry and the flow conditions of the GE-E 3 first stage turbine, which represents a modem gas turbine blade were used for the analysis. Clearance heights of 0%, 1%, 1.5% and 3% of the passage height were considered. For the two largest clearance heights considered, different recess depths were studied. There was an increase in the thermal load on all the heat transfer surfaces considered due to enlargement of the clearance gap. Introduction of recessed casing resulted in a drop in the rate of heat transfer on the pressure side but the picture on the suction side was found to be more complex for the smaller tip clearance height considered. For the larger tip clearance height the effect of casing recess was an orderly reduction in the suction side heat transfer as the casing recess height was increased. There was a marked reduction of heat load and peak values on the blade tip upon introduction of casing recess, however only a small reduction was observed on the casing itself. It was reconfirmed that there is a linear relationship between the efficiency and the tip gap height. It was also observed that the recess casing has a small effect on the efficiency but can have a moderating effect on the flow underturning at smaller tip clearances.

  7. Predictive Factors Affecting Long-Term Outcome of Unilateral Lateral Rectus Recession

    PubMed Central

    Yang, Hee Kyung; Kim, Mi-Jin; Hwang, Jeong-Min

    2015-01-01

    Background There are few long-term outcome reports of unilateral lateral rectus (LR) recession for exotropia including a large number of subjects. Previous reports on unilateral LR recession commonly show extremely low rates of initial overcorrection and large exodrifts after surgery suggesting that the surgical dose may be increased. However, little is known of the long-term outcome of a large unilateral LR recession for exotropia. Objectives To determine long-term outcomes and predictive factors of recurrence after a large unilateral LR recession in patients with exotropia. Data Extraction Retrospective analysis was performed on 92 patients aged 3 to 17 years who underwent 10 mm unilateral LR recession for exotropia of ≤ 25 prism diopters (Δ) with prism and alternate cover testing and were followed up for more than 2 years after surgery. Final success rates within 10Δ of exophoria/tropia and 5Δ of esophoria/tropia at distance in the primary position, improvement in stereopsis and the predictive factors for recurrence were evaluated. Results At 24 months after surgery, 54% of patients had ocular alignment meeting the defined criteria of success, 45% had recurrence and 1% had overcorrection. After a mean follow-up of 39 months, 36% showed success, 63% showed recurrence and 1% resulted in overcorrection. The average time of recurrence was 23.4±14.7 months (range, 1–60 months) and the rate of recurrence per person-year was 23% after unilateral LR recession. Predictive factors of recurrence were a larger preoperative near angle of deviation (>16Δ) and larger initial postoperative exodeviation (>5Δ) at distance. Conclusions Long-term outcome of unilateral LR recession for exotropia showed low success rates with high recurrence, thus should be reserved for patients with a small preoperative near angle of exodeviation. PMID:26418819

  8. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.

    PubMed

    Knappskog, P M; Flatmark, T; Mallet, J; Lüdecke, B; Bartholomé, K

    1995-07-01

    Tyrosine hydroxylase (TH) catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-DOPA), the rate-limiting step in the biosynthesis of dopamine. Recently, we described a point mutation in hTH (Q381K) in a family of two siblings suffering from progressive L-DOPA-responsive dystonia (DRD), representing the first reported mutation in this gene. We here describe the cloning, expression and steady-state kinetic properties of the recombinant mutant enzyme. When expressed by a coupled in vitro transcription-translation system and in E. coli, the mutant enzyme represents a kinetic variant form, with a reduced affinity for L-tyrosine. The 'residual activity' of about 15% of the corresponding wild-type hTH (isoform hTH1), at substrate concentrations prevailing in vivo, is compatible with the clinical phenotype of the two Q381K homozygote patients carrying this recessively inherited mutation. PMID:8528210

  9. Estimation of aquifer parameters from the recession of spring hydrographs - Influence of flow geometry

    NASA Astrophysics Data System (ADS)

    Birk, S.; Hergarten, S.

    2012-04-01

    The recession of spring hydrographs can be used to infer information about hydraulic aquifer properties, such as hydraulic conductivity and storage coefficient, at the catchment scale . Frequently, the approach by Rorabaugh (IAHS Publ. 63, 432-441, 1964) is employed for this purpose. Since this approach was derived for parallel flow from the aquifer to a stream, Sahuquillo and Gomez-Hernandez (Water Resour. Res. 39(6), 2003) questioned its applicability to springs with radial flow geometry. The objective of this work is to assess the influence of the flow geometry on the parameter estimates resulting from the evaluation of recession hydrographs. To this end, the radial flow equation is solved using a finite-difference model and the resulting recession curves are compared to the analytical solution by Rorabaugh. We found that the hydrograph of a homogeneous spring catchment with radial flow approaches the long-term exponential recession much more rapidly than that with parallel flow. But even more important, the recession coefficient itself strongly depends on the flow geometry: In case of radial flow the recession is significantly slower and thus the recession coefficient is lower than that predicted by the parallel flow model. As a consequence, the application of the parallel flow model to observed recession curves results in an underestimation of the hydraulic conductivity (given a constant storage) by an order of magnitude if flow to the spring is actually radial. However, the assumption of a homogeneous radial flow domain may be inappropriate at least in the case of karst catchments where the spring is fed by highly conductive karst conduits: Results from karst evolution models (e.g. Liedl et al., Water Resour. Res. 39(3), 2003) suggest that the hydraulic conductivity of the conduit system increases towards the spring. An increase inversely proportional to the distance from the spring compensates the effect of the decrease in flow cross-section towards the

  10. 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

  11. 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

  12. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

    PubMed

    Roosing, Susanne; Lamers, Ideke J C; de Vrieze, Erik; van den Born, L Ingeborgh; Lambertus, Stanley; Arts, Heleen H; Peters, Theo A; Hoyng, Carel B; Kremer, Hannie; Hetterschijt, Lisette; Letteboer, Stef J F; van Wijk, Erwin; Roepman, Ronald; den Hollander, Anneke I; Cremers, Frans P M

    2014-08-01

    Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c.199_201del [p.Gln67del] and c.810+1G>T) in an unrelated person with cone-rod dystrophy. Upon overexpression of POC1B in human TERT-immortalized retinal pigment epithelium 1 cells, the encoded wild-type protein localized to the basal body of the primary cilium, whereas this localization was lost for p.Arg106Pro and p.Gln67del variant forms of POC1B. Morpholino-oligonucleotide-induced knockdown of poc1b translation in zebrafish resulted in a dose-dependent small-eye phenotype, impaired optokinetic responses, and decreased length of photoreceptor outer segments. These ocular phenotypes could partially be rescued by wild-type human POC1B mRNA, but not by c.199_201del and c.317C>G mutant human POC1B mRNAs. Yeast two-hybrid screening of a human retinal cDNA library revealed FAM161A as a binary interaction partner of POC1B. This was confirmed in coimmunoprecipitation and colocalization assays, which both showed loss of FAM161A interaction with p.Arg106Pro and p.Gln67del variant forms of POC1B. FAM161A was previously implicated in autosomal-recessive retinitis pigmentosa and shown to be located at the base of the photoreceptor connecting cilium, where it interacts with several other ciliopathy-associated proteins. Altogether, this study demonstrates that POC1B mutations result in a defect of the photoreceptor sensory cilium and thus affect cone and rod photoreceptors. PMID:25018096

  13. 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.

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

    PubMed Central

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

    2014-01-01

    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 undertake an analysis of ROH for MDD using the 9,238 MDD cases and 9,521 controls reported in a recent mega-analysis of 9 GWAS. 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

  15. 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

  16. Comparative study of two surgical techniques for root coverage of large recessions in heavy smokers.

    PubMed

    Reino, Danilo M; Maia, Luciana P; Novaes, Arthur B; Souza, Sérgio L S

    2015-01-01

    Reduced root coverage due to diminished periodontal vascularity can be expected in heavy smokers. The aim of this study was to evaluate the root coverage obtained for large gingival recessions in heavy smokers using two different surgical techniques. Twenty heavy smokers were selected. Each patient had large, bilateral Miller class I or II gingival recessions (Control Group (CG): 3.30 ± 1.29; Test Group (TG): 3.45 ± 0.80) on nonmolar teeth. Clinical measurements of probing pocket depth (PPD), clinical attachment level (CAL), recession height (RH), keratinized mucosa height (KMH), and keratinized mucosa thickness (KMT) were determined at baseline and after 12 months. One side received a coronally positioned flap (CPF), while the contralateral side received the extended flap technique (EFT), both procedures carried out in conjunction with a subepithelial connective tissue graft (SCTG). Saliva samples to measure cotinine levels were taken at baseline and after 12 months as an indicator of the level of exposure to nicotine. Intergroup and intragroup analysis showed no statistical differences for the evaluated clinical parameters. Patients maintained the same exposure to smoke during the evaluation period. Both techniques resulted in low root coverage (CPF: 48.60%; EFT: 54.28%), but both techniques were effective in decreasing the gingival recessions (P ≤ 0.01). The variables smoke exposure, root coverage, and the thickness and height of keratinized tissue were subjected to linear regression. Regardless of the surgical technique used, heavy smoking strongly limits root coverage, especially for large recessions. PMID:26171447

  17. 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

  18. A clinical study comparing the width of attached gingiva and the prevalence of gingival recessions.

    PubMed

    Tenenbaum, H

    1982-01-01

    One hundred preclinical year dental students were examined. Oral hygiene status and gingival condition were determined using the Plaque Index score (Silness & Löe 1964) and the Gingival Index score systems (Löe & Silness 1963). The width of the attached gingiva and the depth of the gingival pockets were evaluated. The gingival recessions were recorded and their heights measured from the CEJ to the gingival margin. No significant correlation was found between oral hygiene and gingival recession, oral hygiene and width of attached gingival conditions and width of attached gingiva. Only a negative correlation (P less than 0.05) was found between the width of attached gingiva and the number of gingival recessions. No statistically significant differences were observed in oral hygiene status and gingival conditions among three groups of students (without, with one and with two or more recessions, respectively). The roles of toothbrushing trauma and "adequate" width of attached gingiva in the etiology of gingival recessions are questioned. PMID:6949929

  19. Association Between Sports Participation and Sedentary Behavior During School Recess Among Brazilian Adolescents

    PubMed Central

    Silva, Diego Augusto Santos; dos Santos Silva, Roberto Jerônimo

    2015-01-01

    The aim of this study was to examine the association between sports participation and sedentary behavior during school recess among Brazilian adolescents. This study included 2,243 adolescents aged 13–18 years (16.2 ± 1.1), 62.2% females and 37.8% males, enrolled in public high schools in Aracaju, Northeastern Brazil. Sedentary behavior during school recess and sport participation was self-reported. Several factors were examined, including sex, age, skin color, socioeconomic status, maternal education and physical activity level. Sixty percent of adolescents had sedentary behavior during school recess and 57.7% of adolescents reported that they did not participate in any team sport. Additionally, adolescents who did not practice any team sport were 40% more likely (OR: 1.4, 95% CI: 1.1, 1.8) to be sedentary during school recess compared to those who participated in two or more team sports. It is recommended that schools encourage students to engage in sports activities and promote more physical activity during school recess to reduce the sedentary behavior and increase physical activity levels in youth. PMID:25964825

  20. Playground designs to increase physical activity levels during school recess: a systematic review.

    PubMed

    Escalante, Yolanda; García-Hermoso, Antonio; Backx, Karianne; Saavedra, Jose M

    2014-04-01

    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 systematic search of seven databases was made from the July 1 to July 5, 2012, leading to a final set of eight studies (a total of 2,383 subjects-599 "preschoolers" and 1,784 "schoolchildren") meeting the inclusion criteria. These studies were classified according to the intervention used: playground markings, game equipment, playground markings plus physical structures, and playground markings plus game equipment. The results of these studies indicate that the strategies analyzed do have the potential to increase physical activity levels during recess. The cumulative evidence was (a) that interventions based on playground markings, game equipment, or a combination of the two, do not seem to increase the physical activity of preschoolers and schoolchildren during recess and (ii) that interventions based on playground markings plus physical structures do increase the physical activity of schoolchildren during recess in the short to medium term. PMID:23836828

  1. Analytical approximations of discharge recessions for steeply sloping aquifers in alpine catchments

    NASA Astrophysics Data System (ADS)

    Pauritsch, Marcus; Birk, Steffen; Wagner, Thomas; Hergarten, Stefan; Winkler, Gerfried

    2015-11-01

    The validity and applicability of various methods to infer hydraulic properties of sloping aquifers in alpine settings using the power law relationship between the discharge recession and its first time derivative is explored. For this purpose, a synthetic spring catchment implemented in the numerical groundwater flow model MODFLOW as well as the example of a relict rock glacier in an alpine setting is examined. The various approaches are found to differ particularly in the late time domain, whereas most of them agree fairly well in the early time domain and at the transition point between the two time domains. As the early recession may be affected by uncertainties from inappropriate initial conditions, it is proposed to use the transition point for estimating aquifer thickness and transmissivity. Using only prolonged winter recessions in the analysis of the field data from the relict rock glacier yields estimates of aquifer thickness and hydraulic conductivity consistent with results from a geophysical survey and tracer tests, respectively. In the other seasons, the recession is frequently interrupted by minor recharge events, and using the lower envelope of the entire data is found to yield estimates that are too high in the given case. It is thus recommended to focus on the winter recession in the analysis of hydrograph data from alpine settings.

  2. Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

    PubMed Central

    2011-01-01

    Background Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date. Mutations in WD repeat protein 62 are associated with autosomal recessive primary microcephaly with cortical malformations. This study was initiated to screen WDR62 mutations in four consanguineous Pakistani families with autosomal recessive primary microcephaly. Methods As part of a large study to detect the genetic basis of primary microcephaly in Pakistan, homozygosity mapping and DNA sequencing was used to explore the genetic basis of autosomal recessive primary microcephaly in four families. Results Four out of 100 families recruited in the study revealed linkage to the MCPH2 locus on chromosome 19, which harbor WDR62 gene. DNA sequencing in these MCPH2 linked families result in the identification of a novel nonsense mutation (p.Q648X) and three previously known mutations. Conclusion Our data indicate that WDR62 mutations cause about 4% of autosomal recessive primary microcephaly in Pakistan. PMID:21961505

  3. 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

  4. 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

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

    PubMed

    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

  6. 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

  7. Kilimanjaro ice cliff recession patterns derived from terrestrial photogrammetry

    NASA Astrophysics Data System (ADS)

    Winkler, Michael; Tad Pfeffer, W.; Hanke, Klaus; Cullen, Nicolas J.; Kaser, Georg

    2010-05-01

    period and vice versa. Using a calibrated DSLR camera and photogrammetric software for automatic stereo matching it was possible to derive digital surface models (DSMs) of the sample cliff with an accuracy of a few cm. The comparison of the DSMs provides a laminar picture of the changes at the cliff between the two retreat phases. Small scale variations in aspect and slope as well as alterations in the surface roughness can be quantified. Additionally, recession rates can be studied as a function of aspect, slope, height above ground, and insolation phase. These findings can be used to validate future process-based mass balance models for the ice cliff and will help to quantify the role of deformation.

  8. 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

  9. A rare cause of gingival recession: morphea with intra-oral involvement.

    PubMed

    Van der Veken, Dominique; De Haes, Petra; Hauben, Esther; Teughels, Wim; Lambrechts, Paul

    2015-05-01

    Morphea is an inflammatory disorder of the skin and underlying tissues characterized by an overabundance of collagen leading to fibrosis. The prevalence of this disease is estimated at around 0.4-2.7/100,000 people. When the process occurs in the gingival tissues, it induces traction, which can cause gingival recession. A 19-year-old woman was referred to the clinic for a progressive recession on teeth 11 and 12. A pale, atrophic, linear region extending from her nose to her upper lip on the right-hand side of her face was diagnosed as morphea en coup de sabre. Cone beam computed tomography, quantitative polymerase chain reaction and histologic evaluation were used to assess the pathology. Treatment with methotrexate was conducted. After 12 months, no progression of the recession could be observed. PMID:25864825

  10. Physical activity levels of adolescents with and without intellectual disabilities during physical education and recess.

    PubMed

    Pan, Chien-Yu; Liu, Chin-Wen; Chung, I Chiao; Hsu, Po-Jen

    2014-11-16

    To compare physical activity levels in adolescents with and without intellectual disabilities during physical education and recess. Forty adolescents diagnosed with intellectual disabilities (inclusive classrooms, n=20; self-contained classrooms, n=20) and 40 age-matched typically developing peers (general classrooms) participated. All participants wore an Actigraph GT1M accelerometer for 5 consecutive weekdays during school hours. Three groups of adolescents were similarly active during physical education; however, adolescents with intellectual disabilities in self-contained classrooms were less active during recess than did the other two groups. In addition, they spent less percentage of time in moderate-to-vigorous physical activity during recess than did the typically developing adolescents. An inclusive, structured, and supportive environment promotes physical activity engagement in adolescents with intellectual disabilities. PMID:25462518

  11. 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.

  12. 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.

  13. Transient increase of higher-order aberrations after lateral rectus recession in children.

    PubMed

    Seo, Kyoung Yul; Hong, Samin; Song, Won Kyoung; Chung, Seung Ah; Lee, Jong Bok

    2011-05-01

    The changes of higher-order aberrations (HOAs) after bilateral lateral rectus muscle recession were evaluated. Forty eyes of 20 children were enrolled and their wavefront information was assessed until postoperative 3 months. Even though the root mean square (RMS) of total aberration was not changed, the RMS of HOA was transiently increased at postoperative 1 week and returned to baseline level after 1 month. Among individual Zernike coefficient, secondary astigmatism, quadrafoil, secondary coma, secondary trefoil, and pentafoil showed similar tendency with the RMS of HOA. However, coma, trefoil, and spherical aberration were not changed. Regarding recession amount, it did not correlate with any Zernike coefficient. In summary, our data imply that the HOAs are transiently increased after lateral rectus recession surgery. These results are in collusion with previous reports that strabismus surgery induced transient corneal astigmatism. PMID:21488198

  14. Two classes of deleterious recessive alleles in a natural population of zebrafish, Danio rerio.

    PubMed Central

    McCune, Amy R.; Houle, David; McMillan, Kyle; Annable, Rebecca; Kondrashov, Alexey S.

    2004-01-01

    Natural populations carry deleterious recessive alleles which cause inbreeding depression. We compared mortality and growth of inbred and outbred zebrafish, Danio rerio, between 6 and 48 days of age. Grandparents of the studied fish were caught in the wild. Inbred fish were generated by brother-sister mating. Mortality was 9% in outbred fish, and 42% in inbred fish, which implies at least 3.6 lethal equivalents of deleterious recessive alleles per zygote. There was no significant inbreeding depression in the growth, perhaps because the surviving inbred fish lived under less crowded conditions. In contrast to alleles that cause embryonic and early larval mortality in the same population, alleles responsible for late larval and early juvenile mortality did not result in any gross morphological abnormalities. Thus, deleterious recessive alleles that segregate in a wild zebrafish population belong to two sharply distinct classes: early-acting, morphologically overt, unconditional lethals; and later-acting, morphologically cryptic, and presumably milder alleles. PMID:15451692

  15. 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

  16. 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.

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

    PubMed

    Duan, Ranhui; Shi, Yuting; 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

  18. Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy

    PubMed Central

    Schottmann, Gudrun; Seelow, Dominik; Seifert, Franziska; Morales-Gonzalez, Susanne; Gill, Esther; von Au, Katja; von Moers, Arpad; Stenzel, Werner

    2015-01-01

    Objective: To identify the underlying genetic cause of a congenital neuropathy in a 5-year-old boy as part of a cohort of 32 patients from 23 families with genetically unresolved neuropathies. Methods: We used autozygosity mapping coupled with next-generation sequencing to investigate a consanguineous family from Lebanon with 1 affected and 2 healthy children. Variants were investigated for segregation in the family by Sanger sequencing. A splice site mutation was further evaluated on the messenger RNA level by quantitative reverse transcription PCR. Subsequently, a larger cohort was specifically screened for receptor expression-enhancing protein 1 (REEP1) gene mutations. Results: We detected a homozygous splice donor mutation in REEP1 (c.303+1-7GTAATAT>AC, p.F62Kfs23*; NM_022912) that cosegregated with the phenotype in the family, leading to complete skipping of exon 4 and a premature stop codon. The phenotype of the patient is similar to spinal muscular atrophy with respiratory distress type 1 (SMARD1) with additional distal arthrogryposis and involvement of the upper motor neuron manifested by pronounced hyperreflexia. Conclusion: To date, only dominant REEP1 mutations have been reported to be associated with a slowly progressive hereditary spastic paraplegia. The findings from our patient expand the phenotypical spectrum and the mode of inheritance of REEP1-associated disorders. Recessive mutations in REEP1 should be considered in the molecular genetic workup of patients with a neuromuscular disorder resembling SMARD1, especially if additional signs of upper motor neuron involvement and distal arthrogryposis are present. PMID:27066569

  19. 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

  20. 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.

  1. A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

    PubMed Central

    Garshasbi, Masoud; Hadavi, Valeh; Habibi, Haleh; Kahrizi, Kimia; Kariminejad, Roxana; Behjati, Farkhondeh; Tzschach, Andreas; Najmabadi, Hossein; Ropers, Hans Hilger; Kuss, Andreas Walter

    2008-01-01

    Recent studies have shown that autosomal recessive mental retardation (ARMR) is extremely heterogeneous, and there is reason to believe that the number of underlying gene defects goes into the thousands. To date, however, only four genes have been implicated in nonsyndromic ARMR (NS-ARMR): PRSS12 (neurotrypsin), CRBN (cereblon), CC2D1A, and GRIK2. As part of an ongoing systematic study aiming to identify ARMR genes, we investigated a large consanguineous family comprising seven patients with nonsyndromic ARMR in four sibships. Genome-wide SNP typing enabled us to map the relevant genetic defect to a 4.6 Mbp interval on chromosome 8. Haplotype analyses and copy-number studies led to the identification of a homozygous deletion partly removing TUSC3 (N33) in all patients. All obligate carriers of this family were heterozygous, but none of 192 unrelated healthy individuals from the same population carried this deletion. We excluded other disease-causing mutations in the coding regions of all genes within the linkage interval by sequencing; moreover, we verified the complete absence of a functional TUSC3 transcript in all patients through RT-PCR. TUSC3 is thought to encode a subunit of the endoplasmic reticulum-bound oligosaccharyltransferase complex that catalyzes a pivotal step in the protein N-glycosylation process. Our data suggest that in contrast to other genetic defects of glycosylation, inactivation of TUSC3 causes nonsyndromic MR, a conclusion that is supported by a separate report in this issue of AJHG. TUSC3 is only the fifth gene implicated in NS-ARMR and the first for which mutations have been reported in more than one family. PMID:18452889

  2. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.

    PubMed

    Garshasbi, Masoud; Hadavi, Valeh; Habibi, Haleh; Kahrizi, Kimia; Kariminejad, Roxana; Behjati, Farkhondeh; Tzschach, Andreas; Najmabadi, Hossein; Ropers, Hans Hilger; Kuss, Andreas Walter

    2008-05-01

    Recent studies have shown that autosomal recessive mental retardation (ARMR) is extremely heterogeneous, and there is reason to believe that the number of underlying gene defects goes into the thousands. To date, however, only four genes have been implicated in nonsyndromic ARMR (NS-ARMR): PRSS12 (neurotrypsin), CRBN (cereblon), CC2D1A, and GRIK2. As part of an ongoing systematic study aiming to identify ARMR genes, we investigated a large consanguineous family comprising seven patients with nonsyndromic ARMR in four sibships. Genome-wide SNP typing enabled us to map the relevant genetic defect to a 4.6 Mbp interval on chromosome 8. Haplotype analyses and copy-number studies led to the identification of a homozygous deletion partly removing TUSC3 (N33) in all patients. All obligate carriers of this family were heterozygous, but none of 192 unrelated healthy individuals from the same population carried this deletion. We excluded other disease-causing mutations in the coding regions of all genes within the linkage interval by sequencing; moreover, we verified the complete absence of a functional TUSC3 transcript in all patients through RT-PCR. TUSC3 is thought to encode a subunit of the endoplasmic reticulum-bound oligosaccharyltransferase complex that catalyzes a pivotal step in the protein N-glycosylation process. Our data suggest that in contrast to other genetic defects of glycosylation, inactivation of TUSC3 causes nonsyndromic MR, a conclusion that is supported by a separate report in this issue of AJHG. TUSC3 is only the fifth gene implicated in NS-ARMR and the first for which mutations have been reported in more than one family. PMID:18452889

  3. 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

  4. Anglo- and Mexican-American preschoolers at home and at recess: activity patterns and environmental influences.

    PubMed

    McKenzie, T L; Sallis, J F; Nader, P R; Broyles, S L; Nelson, J A

    1992-06-01

    Habitual physical activity in children is related to physical fitness and appears to mediate cardiovascular disease (CVD) risk factors. We studied the physical activity patterns and associated variables of a large bi-ethnic cohort of 4-year-old children from low to middle socioeconomic families. Trained observers coded the behavior of 351 children (150 Anglo-American, 201 Mexican-American; 182 boys, 169 girls) during two 60-minute home visits and two unstructured recesses lasting up to 30 minutes each at 63 different preschools. Findings indicated that although children were much less active at home, there were low but significant correlations between their activity patterns at home and during recess (r = .13). Children who had activity-promoting toys at home also tended to have them available during preschool recess (r = .20). Ethnic differences were evident for both activity and environmental variables. Mexican-American children were less active than Anglo children at home (p less than .002) and during recess (p less than .03), thus adding to the adult literature that has found Mexican-Americans to be less active than Anglos, and supporting to the notion that physical activity life-style habits may be established in early childhood. In both settings, Mexican-American children spent more time in presence of adults (home, p less than .04; recess, p less than .03) and had access to fewer active toys (home, p less than .001; recess, p less than .05). Gender differences were also evident for both activity and environmental variables.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:1613112

  5. 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

  6. 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

  7. 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. PMID:21987014

  8. 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.

  9. 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

  10. The Octagon Model: a clinical tool for assessing marginal tissue recession.

    PubMed

    Atieh, Momen A; Leichter, Jonathan

    2016-01-01

    The Octagon Model is a clinical assessment tool designed to assess marginal tissue recession (MTR) and estimate the level of difficulty in achieving root coverage. It evaluates eight patient- and siterelated factors: patient's expectations, smoking status, width of keratinized tissue, absence/presence of cervical lesion, interproximal soft tissue/bone level, depth and width of recession defect, and buccal bone thickness. The model is presented in a three-colored diagram to facilitate communication between clinicians and between clinicians and their patients, and to assist clinicians in optimizing treatment plans at both site and patient levels. PMID:26835526

  11. 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

  12. 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

  13. Inter-seasonal variability in baseflow recession rates: The role of aquifer antecedent storage in central California watersheds

    NASA Astrophysics Data System (ADS)

    Bart, Ryan; Hope, Allen

    2014-11-01

    Baseflow recession rates vary inter-seasonally in many watersheds. This variability is generally associated with changes in evapotranspiration; however, an additional and less studied control over inter-seasonal baseflow recession rates is the effect of aquifer antecedent storage. Understanding the role of aquifer antecedent storage on baseflow recession rates is crucial for Mediterranean-climate regions, where seasonal asynchronicity of precipitation and energy levels produces large inter-seasonal differences in aquifer storage. The primary objective of this study was to elucidate the relation between aquifer antecedent storage and baseflow recession rates in four central California watersheds using antecedent streamflow as a surrogate for watershed storage. In addition, a parsimonious storage-discharge model consisting of two nonlinear stores in parallel was developed as a heuristic tool for interpreting the empirical results and providing insight into how inter-seasonal changes in aquifer antecedent storage may affect baseflow recession rates. Antecedent streamflow cumulated from the beginning of the wateryear was found to be the strongest predictor of baseflow recession rates, indicating that inter-seasonal differences in aquifer storage are a key control on baseflow recession rates in California watersheds. Baseflow recession rates and antecedent streamflow exhibited a negative power-law relation, with baseflow recession rates decreasing by up to two orders of magnitude as antecedent streamflow levels increased. Inference based on the storage-discharge model indicated that the dominant source of recession flow shifted from small, rapid response aquifers at the beginning of the wet season to large, seasonal aquifers as the wet season progressed. Aquifer antecedent storage in California watersheds should be accounted for along with evapotranspiration when characterizing baseflow recession rates.

  14. 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.

  15. 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

  16. An improved method for delineating source protection zones for karst springs based on analysis of recession curve data

    NASA Astrophysics Data System (ADS)

    Civita, Massimo V.

    2008-08-01

    A standard method for delineating source protection zones, particularly for karst and carbonate springs, has been improved. The method, based on recession curve analysis, defines four vulnerability scenarios with an evaluation of the appropriate dimensions of the protection areas, accommodating situations where field-test data are not available. The new approach makes it easier to separate the components of the spring discharge hydrograph. The objective is to achieve simplification, and an effective, more rigorous, procedure in the determination of the parameters used by Mangin’s model—Mangin A (1975) Contribution a l’étude hydrodynamique des aquifères karstiques-Troisieme partie: Constitution et fonctionnement des aquifères karstiques (Contribution to the hydrodynamic study of karst aquifers, part 3: formation and work of karst aquifers). Ann Speleol 30(1):21 124. The original procedure, plus the lack of sufficient data, was open to subjective interpretation. With the aid of modern technology, a very large quantity of data is now available and it is necessary to process it using denoise type computer-based filters before passing to interpretation. Working with discharge data series, a statistical approach is proposed to give an analytical solution for determining the values of fundamental parameters of the recession curve model. The new procedure is defined and compared with the original methodology. The new approach has been tested and applied to a number of karst springs in Italy. A case history for a spring located in the Piedmont region of the Maritime Alps, is presented. The proposed new procedure can be utilised to mark the limits of the protection zones of tapped groundwater supplied for potable use, as required by European and local legislation.

  17. 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…

  18. 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,…

  19. 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,…

  20. 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…

  1. 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,…

  2. 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

  3. Returns to Education during Economic Boom and Recession: Mexico 1984, 1989, and 1992.

    ERIC Educational Resources Information Center

    Psacharopoulos, George; And Others

    1996-01-01

    Uses data from 1984, 1989, and 1992 household surveys to investigate the earnings/education relationship in Mexico. Time-series analysis results indicate that the returns to investment in education are depressed during an economic recession and rise again as economic growth resumes. Returns to education remain high, even after significantly…

  4. The effects of recessive white and dominant white genotypes on early growth rate.

    PubMed

    Fox, W; Smyth, J R

    1985-03-01

    The purpose of the studies reported herein was to determine whether the depressing effects on growth rate of dominant white (I) and recessive white (c/c) are additive or possibly interact with each other. A synthetic stock was used that was segregating for both dominant white and recessive white. Using phenotypic observations of down color and juvenile plumage color; it was possible to identify the genotypes at the I and C+ loci and to utilize a factorial experiment that provided for an evaluation of interaction effects between the loci. Five replications of this design were conducted with the following results: 1) the main effect of dominant white on 6 and 8 week body weight was not statistically significant; 2) recessive white consistently depresses early growth rate and the difference (congruent to 4%) between C+/- vs. c/c was highly significant (P less than .01); 3) there was a significant interaction (P less than .05) between I and c indicating that depressing effects of these loci are not additive. It does not appear to be necessary to eliminate (I) from recessive white broiler stocks, but it would be economically advantageous to remove hypostatic (c) from dominant white lines. PMID:3991420

  5. 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.

  6. 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…

  7. 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…

  8. 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…

  9. 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.

  10. 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…

  11. 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

  12. 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…

  13. 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…

  14. 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…

  15. 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.

  16. 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…

  17. 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…

  18. 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

  19. 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…

  20. The Identification of Recessive Resistance Effective Against Powdery Mildew or Downy Mildew of Grapevine

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Biotrophic pathogens rely upon components of host machinery for their survival and propagation. Natural or induced mutation of host machinery components has repeatedly been harnessed to obtain applicable and durable resistance, as exemplified by recessive eIF4E and mlo resistances. In this project...