Baglam, Tekin; Binnetoglu, Adem; Fatih Topuz, Muhammet; Baş Ikizoglu, Nilay; Ersu, Refika; Turan, Serap; Sarı, Murat
Pycnodysostosis is a rare autosomal, recessive, skeletal dysplasia caused by a mutation in the cathepsin k gene. Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypoplasia and angle disorder, blue sclera), and acroosteolysis of the distal phalanges. Our aim was to describe the otorhinolaryngologic findings, differential diagnoses, various treatment options, and followup in eight cases of pycnodysostosis. This retrospective clinical study used data from eight patients diagnosed with pycnodysostosis by a single pediatric endocrinologist primarily based on clinical and radiographic findings. All patients were referred to the otorhinolaryngology outpatient clinic by the pediatric endocrinology unit of the Marmara University between February 2013 and March 2015. Detailed medical histories were obtained in all cases and otorhinolaryngologic physical examination, blood assays, electrocardiogram, lateral skull X-rays, chest radiograph, cephalometric investigations, tympanograms, and audiograms were also carried out. Sleep videos of patients were recorded and those with upper airway problems were evaluated for sleep apnea by polysomnography. Informed consent form was obtained from the parents of all patients. Eight patients (7 females and 1 male) displaying proportionate dwarfism were included in the study. They had a mean age of 14.7 years (range: 13-16 y), the mean height of 141.3 cm (range 132-155 cm), and mean weight of 44.4 kg (range: 39.6-49.3 kg). All patients had facial dysmorphism with frontal bossing and the hands and feet had short digits with overlying cutaneous wrinkles that tapered off with large overriding nails. Midfacial hypoplasia and malocclusion were observed in seven of the eight patients (87.5%), four (50%) had micrognathia, and five (62.5%) had proptosis. Tympanograms and audiograms of all patients were type A and normal, and the mean of the pure
Vinayak Y. Kshirsagar
Full Text Available Pycnodysostosis is a rare autosomal recessive disorder whose generesponsible for this phenotype (CTSK, mapped to human chromosome1q21, code for the enzyme cathepsin K, a lysosomal cysteineprotease; with an estimated incidence of 1.7 per 1 million births. This clinical entity includes micromelic dwarfism, increased radiological bone density, dysplasia of the skull, acro-osteolysis, straightening of the mandibular angle and in some cases, dysplasia of the acromial end of the clavicle. Oral and maxillo-facial manifestations of this disease are very clear. Herein we reported a case of pycnodysostosis, showing short stature with widening of the sutures, unfused anterior and posterior fontanelles, crowding of teeth with dental caries and typical radiological features associated with ichthyosis vulgaris and palmoplantar keratoderma.
Testani, Elisa; Scarano, Emanuele; Leoni, Chiara; Dittoni, Serena; Losurdo, Anna; Colicchio, Salvatore; Gnoni, Valentina; Vollono, Catello; Zampino, Giuseppe; Paludetti, Gaetano; Della Marca, Giacomo
Pycnodysostosis is an autosomal recessive disorder due to a mutation in the cathepsin K gene, which causes a decrease of the bone turnover; a review of the literature suggests that pycnodysostosis is frequently associated with severe respiratory obstruction, which needs surgical treatment. The aim of this paper is to describe the surgical treatment of a 3½-year-old girl affected by Pycnodysostosis complicated by a severe sleep-related respiratory disorder. The surgical treatment, consisting of adenotonsillectomy and palatoplasty, resulted in a striking amelioration of respiratory parameters and increased posterior airway space, and allowed the patient to avoid tracheotomy while awaiting for maxillo-mandibular surgery. © 2014 Wiley Periodicals, Inc.
Anegawa, Shigetaka; Bekki, Yoshiaki; Furukawa, Yasuhiro; Yokota, Seishi; Torigoe, Ryuichiro.
A 13-year-old boy was presented to the Department of Neurosurgery, Saiseikai Fukuoka General Hospital for further examinations concerning abnormal findings in the skull radiogram taken when he struck his head. His physical features showed some characteristics the same as those of pycnodysostosis as follows - proportionate dwarfism, prominent forehead, short spoon-shaped fingers, bilateral exophthalmos. A skull radiogram revealed widely open cranial sutures with no healing of the fracture and craniotomy which was performed for an acute epidural hematoma 6 years ago. Furthermore, the mandible was hypoplastic with a virtural loss of mandibular angle. CT of the soft tissues showed somewhat dilated cortical sulci and ventricles without any structural abnormalities in the brain. CT of bone algorythum revealed specific characteristics of this disease. The paranasal sinuses were quite hypoplastic. Especially in the maxillary sinuses, frontal sinussus and mastoid air cells, none of developments of sinuses were noted, even though the middle and internal ear seemed to be normal. Moreover, the ethomoid and sphenoid sinuses were noted, although their developments were poor. The appearance of skull base was normal, including the inlets and outlets of cranial nerves or vessels and synchondroses. However, the density of the skull base, especially in the diploe, was higher than normal in Hansfield number. Furthermore, detailed measurements of skull base demonstrated that the skull base itself was also dwarfish. In our study, the development of sinuses in bones with intramembranous ossification are worse than that with endochondral ossification. Furthermore, sutures or synchondroses in the skull base were well-developed than those of the convex. So, it is considered that pycnodysostosis must be the neighboring entity of diseases such as achondroplastic dwarfism or cleidocranial dysplasia. (J.P.N.)
May 18, 1974 ... the development of the teeth in both pycnodysostosis and acro-osteolysis. Furthermore, a review of the literature shows bone- within-bone appearance in cleidocranial dysostosis and osteopetrosis, defective clavicles in cleidocranial dysos- tosis and pycnodysostosis and erosion of the distal phalanges of ...
This paper examines the association between the Great Recession and real assets among families with young children. Real assets such as homes and cars are key indicators of economic well-being that may be especially valuable to low-income families. Using longitudinal data from the Fragile Families and Child Wellbeing Study (N = 4,898), we investigate the association between the city unemployment rate and home and car ownership and how the relationship varies by family structure (married, cohabiting, and single parents) and by race/ethnicity (White, Black, and Hispanic mothers). Using mother fixed-effects models, we find that a one percentage point increase in the unemployment rate is associated with a -0.5 percentage point decline in the probability of home ownership and a -0.7 percentage point decline in the probability of car ownership. We also find that the recession was associated with lower levels of home ownership for cohabiting families and for Hispanic families, as well as lower car ownership among single mothers and among Black mothers, whereas no change was observed among married families or White households. Considering that homes and cars are the most important assets among middle and low-income households in the U.S., these results suggest that the rise in the unemployment rate during the Great Recession may have increased household asset inequality across family structures and race/ethnicities, limiting economic mobility, and exacerbating the cycle of poverty. PMID:29401482
Full Text Available This paper examines the association between the Great Recession and real assets among families with young children. Real assets such as homes and cars are key indicators of economic well-being that may be especially valuable to low-income families. Using longitudinal data from the Fragile Families and Child Wellbeing Study (N = 4,898, we investigate the association between the city unemployment rate and home and car ownership and how the relationship varies by family structure (married, cohabiting, and single parents and by race/ethnicity (White, Black, and Hispanic mothers. Using mother fixed-effects models, we find that a one percentage point increase in the unemployment rate is associated with a -0.5 percentage point decline in the probability of home ownership and a -0.7 percentage point decline in the probability of car ownership. We also find that the recession was associated with lower levels of home ownership for cohabiting families and for Hispanic families, as well as lower car ownership among single mothers and among Black mothers, whereas no change was observed among married families or White households. Considering that homes and cars are the most important assets among middle and low-income households in the U.S., these results suggest that the rise in the unemployment rate during the Great Recession may have increased household asset inequality across family structures and race/ethnicities, limiting economic mobility, and exacerbating the cycle of poverty.
Duque, Valentina; Pilkauskas, Natasha V; Garfinkel, Irwin
This paper examines the association between the Great Recession and real assets among families with young children. Real assets such as homes and cars are key indicators of economic well-being that may be especially valuable to low-income families. Using longitudinal data from the Fragile Families and Child Wellbeing Study (N = 4,898), we investigate the association between the city unemployment rate and home and car ownership and how the relationship varies by family structure (married, cohabiting, and single parents) and by race/ethnicity (White, Black, and Hispanic mothers). Using mother fixed-effects models, we find that a one percentage point increase in the unemployment rate is associated with a -0.5 percentage point decline in the probability of home ownership and a -0.7 percentage point decline in the probability of car ownership. We also find that the recession was associated with lower levels of home ownership for cohabiting families and for Hispanic families, as well as lower car ownership among single mothers and among Black mothers, whereas no change was observed among married families or White households. Considering that homes and cars are the most important assets among middle and low-income households in the U.S., these results suggest that the rise in the unemployment rate during the Great Recession may have increased household asset inequality across family structures and race/ethnicities, limiting economic mobility, and exacerbating the cycle of poverty.
Full Text Available Pycnodysostosis is a skeletal dysplasia, which is mainly characterized by short stature, increased bone density, separated cranial sutures with open fontanel, bone fragility, small hands and feets. We present a female patient, with pycnodysostosis has been misdiagnosed as rickets for a long period. Patient also had spondylolysis and spondylolisthesis at L5 vertebra. Patient was undergone the external fixation and patient were spent external fixation surgery due to spondylolysis and spondylolisthesis at L4-5 level and right femoral neck fracture. In conclusion, genetical skeletal dysplasia such as pycnodysostosis should be considered out of rickets if exists short stature, bone fragility and open fontanel. In patient with pycnodysostosis occurs bone fragility at an earlier age appears despite the increase in bone mineral density. Also, the development of spondylolysis and isthmic type of spondylolisthesis as well as bone fragility must be considered in the pycnodysostosis. Therefore, we emphasize to prevent high-impact trauma such as falling and crash in patients with pycnodysostosis. (Turkish Journal of Osteoporosis 2011;17:26-9
Gottlieb, Aaron; Pilkauskas, Natasha; Garfinkel, Irwin
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
Rawal, N.; Periquet, M.; Lohmann, E.; Lucking, C.B.; Teive, H.; Ambrosio, G.; Raskin, S.; Lincoln, S.; Hattori, N.; Guimaraes, J.; Horstink, M.W.I.M.; Santos Bele, W. Dos; Brousolle, E.; Destee, A.; Mizuno, Y.; Farrer, M.; Deleuze, J.F.; Michele, G. de; Agid, Y.; Durr, A.; Brice, A.
The frequency of parkin mutations was evaluated in 30 families of highly diverse geographic origin with early-onset autosomal recessive parkinsonism. Twelve different mutations, six of which were new, were found in 10 families from Europe and Brazil. Patients with parkin mutations had significantly
Anegawa, Shigetaka; Bekki, Yoshiaki; Furukawa, Yasuhiro; Yokota, Seishi; Torigoe, Ryuichiro
A 13-year-old boy was presented to the Department of Neurosurgery, Saiseikai Fukuoka General Hospital for further examinations concerning abnormal findings in the skull radiogram taken when he struck his head. His physical features showed some characteristics the same as those of pycnodysostosis as follows - proportionate dwarfism, prominent forehead, short spoon-shaped fingers, bilateral exophthalmos. A skull radiogram revealed widely open cranial sutures with no healing of the fracture and craniotomy which was performed for an acute epidural hematoma 6 years ago. Furthermore, the mandible was hypoplastic with a virtural loss of mandibular angle. CT of the soft tissues showed somewhat dilated cortical sulci and ventricles without any structural abnormalities in the brain. CT of bone algorythum revealed specific characteristics of this disease. The paranasal sinuses were quite hypoplastic. Especially in the maxillary sinuses, frontal sinussus and mastoid air cells, none of developments of sinuses were noted, even though the middle and internal ear seemed to be normal. Moreover, the ethomoid and sphenoid sinuses were noted, although their developments were poor. The appearance of skull base was normal, including the inlets and outlets of cranial nerves or vessels and synchondroses. However, the density of the skull base, especially in the diploe, was higher than normal in Hansfield number. Furthermore, detailed measurements of skull base demonstrated that the skull base itself was also dwarfish. In our study, the development of sinuses in bones with intramembranous ossification are worse than that with endochondral ossification. Furthermore, sutures or synchondroses in the skull base were well-developed than those of the convex. So, it is considered that pycnodysostosis must be the neighboring entity of diseases such as achondroplastic dwarfism or cleidocranial dysplasia. (J.P.N.).
Hamadouche, T; Tazir-Melboucy, M; Benhassine, T
Charcot-Marie-Tooth disease (CMT) is a hereditary neuropathy characterized by muscular atrophy and progressive sensitive alterations that affect limbs. The CMT is one of the most heterogenous diseases, clinically as well as genetically. At least twelve loci are responsible for the CMT phenotype, four of them for the autosomal recessive form. The aim of our work was to determinate the implication/exclusion of these four loci in an Algerian family by linkage analysis using microsatellites markers. We have tested the four loci on 8q13-21.1 (CMT4A), 11q23 (CMT4B), 5q23-33 (CMT4C) 8q24 (CMTAR). The haplotype reconstruction allowed us to exclude all the loci in this family, suggesting that the locus (gene) responsible for this form of CMT is localized elsewhere in the genome, thus providing an other observation of the great heterogeneity of the CMT, particularly autosomal recessive.
Beeldman, Emma; van der Kooi, Anneke J.; de Visser, Marianne; van Maarle, Merel C.; van Ruissen, Fred; Baas, Frank
Approximately 10% of motor neuron disease (MND) patients report a familial predisposition for MND. Autosomal recessively inherited MND is less common and is most often caused by mutations in the superoxide dismutase 1 (SOD1) gene. In 2010, autosomal recessively inherited mutations in the optineurin
Carvalho, Ana Branca; Oliveira, Ivo; Nogueira, Fernanda
Abstract: The main purpose of this article, in the management and health, was to assess the contribution of family health and its role in local development in the context of economic recession and worsening poverty in Portugal. Material and Methods. Data were collected through the questionnaire, 1021 individuals were inquired in Portugal, with statistical treatment through inferential analysis, factorial and regression. They were asked to participate voluntarily in writing through email pa...
Leal Esquivel, A.
This study included two Costa Rican families with members affected by Recessive Pigmentary Autosomic Retinitis (RPAR). The first family (C1) from the province of San Jose, has 10 alive affected members, and 14 obligatory carriers. They present an Early Appearance Degeneration, RPAR tipe1 (cane-cone). The author used polymorphic markers (STRPs) to discard some related regions, with the RP in the literature. He also used the Linkage program, for the analysis of ligaments. The second family (P1), proceeding from Acosta (situated in the province of Alajuela), has 13 alive affected members and 23 obligatory carriers and they present numerous consanguineous unions. This case is a RPAR with Early Appearance (Night Blindness, fat ERG), but with a shower degeneration. The author concludes that, with studies such as this one, there will be a capacity to offer RP molecular diagnostic, and also advance in its knowledge and treatment. (S. Grainger)
Ávila-Fernández, Almudena; Cantalapiedra, Diego; Aller, Elena; Vallespín, Elena; Aguirre-Lambán, Jana; Blanco-Kelly, Fiona; Corton, M; Riveiro-Álvarez, Rosa; Allikmets, Rando; Trujillo-Tiebas, María José; Millán, José M; Cremers, Frans P M; Ayuso, Carmen
Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations in 272 Spanish families using a genotyping microarray. 272 unrelated Spanish families, 107 with autosomal recessive RP (arRP) and 165 with sporadic RP (sRP), were studied using the APEX genotyping microarray. The families were also classified by clinical criteria: 86 juveniles and 186 typical RP families. Haplotype and sequence analysis were performed to identify the second mutated allele. At least one-gene variant was found in 14% and 16% of the juvenile and typical RP groups respectively. Further study identified four new mutations, providing both causative changes in 11% of the families. Retinol Dehydrogenase 12 (RDH12) was the most frequently mutated gene in the juvenile RP group, and Usher Syndrome 2A (USH2A) and Ceramide Kinase-Like (CERKL) were the most frequently mutated genes in the typical RP group. The only variant found in CERKL was p.Arg257Stop, the most frequent mutation. The genotyping microarray combined with segregation and sequence analysis allowed us to identify the causative mutations in 11% of the families. Due to the low number of characterized families, this approach should be used in tandem with other techniques.
Marzouka, Nour al Dain; Hebrard, Maxime; Manes, Gaël; Sénéchal, Audrey; Meunier, Isabelle; Hamel, Christian P.
Purpose Autosomal recessive retinitis pigmentosa (arRP) is a genetically heterogeneous disease resulting in progressive loss of photoreceptors that leads to blindness. To date, 36 genes are known to cause arRP, rendering the molecular diagnosis a challenge. The aim of this study was to use homozygosity mapping to identify the causative mutation in a series of inbred families with arRP. Methods arRP patients underwent standard ophthalmic examination, Goldman perimetry, fundus examination, retinal OCT, autofluorescence measurement, and full-field electroretinogram. Fifteen consanguineous families with arRP excluded for USH2A and EYS were genotyped on 250 K SNP arrays. Homozygous regions were listed, and known genes within these regions were PCR sequenced. Familial segregation and mutation analyzes were performed. Results We found ten mutations, seven of which were novel mutations in eight known genes, including RP1, IMPG2, NR2E3, PDE6A, PDE6B, RLBP1, CNGB1, and C2ORF71, in ten out of 15 families. The patients carrying RP1, C2ORF71, and IMPG2 mutations presented with severe RP, while those with PDE6A, PDE6B, and CNGB1 mutations were less severely affected. The five families without mutations in known genes could be a source of identification of novel genes. Conclusions Homozygosity mapping combined with systematic screening of known genes results in a positive molecular diagnosis in 66.7% of families. PMID:24339724
Ainola, M.; Valleala, H.; Nykänen, P.; Risteli, J.; Hanemaaijer, R.; Konttinen, Y.T.
Objective. The excellent poster painter Henri de Toulouse-Lautrec is the most famous patient with cathepsin K-deficient pycnodysostosis. Cathepsin K is believed to play a major role in osteoclast-driven bone resorption. In this study we explored the role of cathepsin K in bone resorption in a
Ijzer, Suzanne; Born, L.I. van den; Zonneveld, M.N.; Lopez, I.; Ayyagari, R.; Teye-Botchway, L.; Mota-Vieira, L.; Cremers, F.P.M.; Koenekoop, R.K.
PURPOSE: To identify the causative gene mutations in three siblings with severe progressive autosomal recessive cone-rod dystrophy (arCRD) and their fifth paternal cousin with Stargardt disease (STGD1) and to specify the phenotypes. METHODS: We evaluated eight sibs of one family, three family
Full Text Available The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness. In the present study a cohort of 30 ARNSHL families was initially screened for mutations in GJB2 and MYO15A. Homozygosity mapping was performed by employing whole genome single nucleotide polymorphism (SNP genotyping in the families that did not carry mutations in GJB2 or MYO15A. Mutation analysis was performed for the known ARNSHL genes present in the homozygous regions to determine the causative mutations. This allowed the identification of a causative mutation in all the 30 families including 9 novel mutations, which were identified in 9 different families (GJB2 (c.598G>A, p.Gly200Arg; MYO15A (c.9948G>A, p.Gln3316Gln; c.3866+1G>A; c.8767C>T, p.Arg2923* and c.8222T>C, p.Phe2741Ser, TMC1 (c.362+18A>G, BSND (c.97G>C, p.Val33Leu, TMPRSS3 (c.726C>G, p.Cys242Trp and MSRB3 (c.20T>G, p.Leu7Arg. Furthermore, 12 recurrent mutations were detected in 21 other families. The 21 identified mutations included 10 (48% missense changes, 4 (19% nonsense mutations, 3 (14% intronic mutations, 2 (9% splice site mutations and 2 (9% frameshift mutations. GJB2 accounted for 53% of the families, while mutations in MYO15A were the second most frequent (13% cause of ARNSHL in these 30 families. The identification of novel as well as recurrent mutations in the present study increases the spectrum of mutations in known deafness genes which could lead to the identification of novel founder mutations and population specific mutated deafness genes causative of ARNSHL. These results provide detailed genetic information that has potential diagnostic implication in the establishment of cost-efficient allele-specific analysis of frequently occurring variants in combination with other reported mutations in Pakistani populations.
Bibi, Nosheen; Ahmad, Saeed; Ahmad, Wasim; Naeem, Muhammad
Hypohidrotic ectodermal dysplasia is an inherited disorder characterized by defective development of teeth, hairs and sweat glands. X-linked hypohidrotic ectodermal dysplasia is caused by mutations in the EDA gene, and autosomal forms of hypohidrotic ectodermal dysplasia are caused by mutations in either the EDAR or the EDARADD genes. To study the molecular genetic cause of autosomal recessive hypohidrotic ectodermal dysplasia in three consanguineous Pakistani families (A, B and C), genotyping of 13 individuals was carried out by using polymorphic microsatellite markers that are closely linked to the EDAR gene on chromosome 2q11-q13 and the EDARADD gene on chromosome 1q42.2-q43. The results revealed linkage in the three families to the EDAR locus. Sequence analysis of the coding exons and splice junctions of the EDAR gene revealed two mutations: a novel non-sense mutation (p.E124X) in the probands of families A and B and a missense mutation (p.G382S) in the proband of family C. In addition, two synonymous single-nucleotide polymorphisms were also identified. The finding of mutations in Pakistani families extends the body of evidence that supports the importance of EDAR for the development of hypohidrotic ectodermal dysplasia. © 2010 The Authors. Australasian Journal of Dermatology © 2010 The Australasian College of Dermatologists.
Full Text Available The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B. Here, we report the results of genetic analyses performed on Moroccan families with autosomal recessive non syndromic hearing loss that identified two families with compound heterozygous MYO7A mutations. Five mutations (c.6025delG, c.6229T>A, c.3500T>A, c.5617C>T and c.4487C>A were identified in these families, the latter presenting two differently affected branches. Multiple bioinformatics programs and molecular modelling predicted the pathogenic effect of these mutations. In conclusion, the absence of vestibular and retinal symptom in the affected patients suggests that these families have the isolated non-syndromic hearing loss DFNB2 (nonsyndromic autosomal recessive hearing loss presentation, instead of USH1B.
Murphy, Ryan D; Zemore, Sarah E; Mulia, Nina
The 2007-2009 US economic recession was marked by unprecedented rates of housing instability and relatively little is known about how this instability impacted alcohol problems. While previous studies have linked homelessness to increased rates of alcohol use and abuse, housing instability during a recession impacts a much larger segment of the population and usually does not result in homelessness. Using a nationally representative sample of US adults, this study examines the association between housing instability during the recession and alcohol outcomes. Additionally, we assess whether this association is moderated by perceived family support. In multivariate negative binomial regressions, both trouble paying the rent/mortgage (vs. stable housing) and lost (vs. stable) housing were associated with experiencing more negative drinking consequences and alcohol dependence symptoms. However, these associations were moderated by perceived family support. In contrast to those with low perceived family support, participants with high perceived family support reported relatively few alcohol problems, irrespective of housing instability. Furthermore, while job loss was strongly associated with alcohol problems in univariate models, no significant associations between job loss and alcohol outcomes were observed in multivariate models that included indicators of housing instability. Findings point to the importance of the informal safety net and suggest that alcohol screening and abuse prevention efforts should be intensified during periods of recession, particularly among those who experience housing instability.
Riazuddin, S; Hussain, M; Razzaq, A; Iqbal, Z; Shahzad, M; Polla, D L; Song, Y; van Beusekom, E; Khan, A A; Tomas-Roca, L; Rashid, M; Zahoor, M Y; Wissink-Lindhout, W M; Basra, M A R; Ansar, M; Agha, Z; van Heeswijk, K; Rasheed, F; Van de Vorst, M; Veltman, J A; Gilissen, C; Akram, J; Kleefstra, T; Assir, M Z; Grozeva, D; Carss, K; Raymond, F L; O'Connor, T D; Riazuddin, S A; Khan, S N; Ahmed, Z M; de Brouwer, A P M; van Bokhoven, H; Riazuddin, S
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1-3% of the general population. Although research into the genetic causes of ID has recently gained momentum, identification of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behind, predominantly due to non-availability of sizeable families. Here we present the results of exome sequencing in 121 large consanguineous Pakistani ID families. In 60 families, we identified homozygous or compound heterozygous DNA variants in a single gene, 30 affecting reported ID genes and 30 affecting novel candidate ID genes. Potential pathogenicity of these alleles was supported by co-segregation with the phenotype, low frequency in control populations and the application of stringent bioinformatics analyses. In another eight families segregation of multiple pathogenic variants was observed, affecting 19 genes that were either known or are novel candidates for ID. Transcriptome profiles of normal human brain tissues showed that the novel candidate ID genes formed a network significantly enriched for transcriptional co-expression (P<0.0001) in the frontal cortex during fetal development and in the temporal-parietal and sub-cortex during infancy through adulthood. In addition, proteins encoded by 12 novel ID genes directly interact with previously reported ID proteins in six known pathways essential for cognitive function (P<0.0001). These results suggest that disruptions of temporal parietal and sub-cortical neurogenesis during infancy are critical to the pathophysiology of ID. These findings further expand the existing repertoire of genes involved in ARID, and provide new insights into the molecular mechanisms and the transcriptome map of ID.
Frasquilho, Diana; de Matos, Margarida Gaspar; Santos, Teresa; Gaspar, Tânia; Caldas de Almeida, J M
Due to the economic recession, several people in Europe became unemployed. This situation may risk their mental health. This study explored parents' perceptions about their unemployment's effects in daily life during the recession. A total of 59 unemployed parents (40.7% fathers and 59.3% mothers), ageing 44.4 years (±6.2), answer a question on how the unemployment affected their family lives. Thematic analysis was used to analyse data. The findings suggest that unemployment is a source of adult and youth mental distress and of economic hardship and changes in family relations. Support to unemployed individuals and their families could benefit from these insights when granting the needed financial and socioemotional assistance. © The Author(s) 2016.
Ma, Yalin; Xiao, Yun; Zhang, Fengguo; Han, Yuechen; Li, Jianfeng; Xu, Lei; Bai, Xiaohui; Wang, Haibo
Mutations in MYO7A gene have been reported to be associated with Usher Syndrome type 1B (USH1B) and nonsyndromic hearing loss (DFNB2, DFNA11). Most mutations in MYO7A gene caused USH1B, whereas only a few reported mutations led to DFNB2 and DFNA11. The current study was designed to investigate the mutations among a Chinese family with autosomal recessive hearing loss. In this study, we present the clinical, genetic and molecular characteristics of a Chinese family. Targeted capture of 127 known deafness genes and next-generation sequencing were employed to study the genetic causes of two siblings in the Chinese family. Sanger sequencing was employed to examine those variant mutations in the members of this family and other ethnicity-matched controls. We identified the novel compound heterozygous mutant alleles of MYO7A gene: a novel missense mutation c.3671C>A (p.A1224D) and a reported insert mutation c.390_391insC (p.P131PfsX9). Variants were further confirmed by Sanger sequencing. These two compound heterozygous variants were co-segregated with autosomal recessive hearing loss phenotype. The gene mutation analysis and protein sequence alignment further supported that the novel compound heterozygous mutations were pathogenic. The novel compound heterozygous mutations (c.3671C>A and c.390_391insC) in MYO7A gene identified in this study were responsible for the autosomal recessive sensorineural hearing loss of this Chinese family. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.
Full Text Available The aim of this article is to present intra- and extra-oral and cephalometric findings of three patients with a rare disease: the pycnodysostosis. Two cases had skeletal Class III malocclusion due to maxillary retrognathia and one had bimaxillary retrusion with Class I relationship. Total circular crossbite, increased gonial angle and vertical facial proportions, deep-narrow palates and retruded upper lip were found in all cases. Maxillary expansion, face mask treatment or/and orthognathic surgery are treatment alternatives, considering the growth and development. Bone fragility and the risk of osteomyelitis after extractions should be considered in such cases before orthodontic treatment and orthognatic surgery.
Hotz, A; Fagerberg, C; Vahlquist, A
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and SULT2B1.(1-6) Furthermore, seven patients from...
Taghavi, Shaghayegh; Chaouni, Rita; Tafakhori, Abbas; Azcona, Luis J; Firouzabadi, Saghar Ghasemi; Omrani, Mir Davood; Jamshidi, Javad; Emamalizadeh, Babak; Shahidi, Gholam Ali; Ahmadi, Mona; Habibi, Seyed Amir Hassan; Ahmadifard, Azadeh; Fazeli, Atena; Motallebi, Marzieh; Petramfar, Peyman; Askarpour, Saeed; Askarpour, Shiva; Shahmohammadibeni, Hossein Ali; Shahmohammadibeni, Neda; Eftekhari, Hajar; Shafiei Zarneh, Amir Ehtesham; Mohammadihosseinabad, Saeed; Khorrami, Mehdi; Najmi, Safa; Chitsaz, Ahmad; Shokraeian, Parasto; Ehsanbakhsh, Hossein; Rezaeidian, Jalal; Ebrahimi Rad, Reza; Madadi, Faranak; Andarva, Monavvar; Alehabib, Elham; Atakhorrami, Minoo; Mortazavi, Seyed Erfan; Azimzadeh, Zahra; Bayat, Mahdis; Besharati, Amir Mohammad; Harati-Ghavi, Mohammad Ali; Omidvari, Samareh; Dehghani-Tafti, Zahra; Mohammadi, Faraz; Mohammad Hossein Pour, Banafsheh; Noorollahi Moghaddam, Hamid; Esmaili Shandiz, Ehsan; Habibi, Arman; Taherian-Esfahani, Zahra; Darvish, Hossein; Paisán-Ruiz, Coro
In this study, the role of known Parkinson's disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD. Some families without mutations in known genes were also subject to whole genome sequencing with the objective to identify novel parkinsonism-related genes. Families were selected from 4000 clinical files of patients with PD or parkinsonism. AR inheritance pattern, consanguinity, and a minimum of two affected individuals per family were used as inclusion criteria. For disease gene/mutation identification, multiplex ligation-dependent probe amplification, quantitative PCR, linkage, and Sanger and whole genome sequencing assays were carried out. A total of 116 patients (50 families) were examined. Fifty-four patients (46.55%; 22 families) were found to carry pathogenic mutations in known genes while a novel gene, not previously associated with parkinsonism, was found mutated in a single family (2 patients). Pathogenic mutations, including missense, nonsense, frameshift, and exon rearrangements, were found in Parkin, PINK1, DJ-1, SYNJ1, and VAC14 genes. In conclusion, variable phenotypic expressivity was seen across all families.
Gal, Moran; Levanon, Erez Y; Hujeirat, Yasir; Khayat, Morad; Pe'er, Jacob; Shalev, Stavit
Developmental malformations of the vitreoretinal vasculature are a heterogeneous group of conditions with various modes of inheritance, and include familial exudative vitreoretinopathy (FEVR), persistent fetal vasculature (PFV), and Norrie disease. We investigated a large consanguineous kindred with multiple affected individuals exhibiting variable phenotypes of abnormal vitreoretinal vasculature, consistent with the three above-mentioned conditions and compatible with autosomal recessive inheritance. Exome sequencing identified a novel c.542G > T (p.C181F) apparently mutation in the TSPAN12 gene that segregated with the ocular disease in the family. The TSPAN12 gene was previously reported to cause dominant and recessive FEVR, but has not yet been associated with other vitreoretinal manifestations. The intra-familial clinical variability caused by a single mutation in the TSPAN12 gene underscores the complicated phenotype-genotype correlation of mutations in this gene, and suggests that there are additional genetic and environmental factors involved in the complex process of ocular vascularization during embryonic development. Our study supports considering PFV, FEVR, and Norrie disease a spectrum of disorders, with clinical and genetic overlap, caused by mutations in distinct genes acting in the Norrin/β-catenin signaling pathway. © 2014 Wiley Periodicals, Inc.
Full Text Available Retinitis pigmentosa (RP is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP in a Chinese family using next-generation sequencing technology. A Chinese family with 7 members including two individuals affected with severe early-onset RP was studied. All patients underwent a complete ophthalmic examination. Exome sequencing was performed on a single RP patient (the proband of this family and direct Sanger sequencing on other family members and normal controls was followed to confirm the causal mutations. A homozygous mutation c.437Tfamily. This homozygous mutation was detected in the two affected patients, but not present in other family members and 600 normal controls. Another three normal members in the family were found to carry this heterozygous missense mutation. Our results emphasize the importance of c.437T
Rehman, Shoaib ur; Baig, Shahid Mahmood; Eiberg, Hans
done in all sampled individuals in the family. The nuclear central loop in the five generation family showed homozygosity for a 6-Mb telomeric region on 11p15, whereas all other linkage regions were excluded by calculation of logarithm of odds (LOD) for the SNP microarray data. A maximum LOD score of Z......Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive...
Roos, L; Fang, M; Dali, C
to the identification of new genes. Very recently, homozygous variations within ALDH1A3 have been associated with autosomal recessive microphthalmia with or without cysts or coloboma, and with variable subphenotypes of developmental delay/autism spectrum disorder in eight families. In a consanguineous family where...... three of the five siblings were affected with microphthalmia/coloboma, we identified a novel homozygous missense mutation in ALDH1A3 using exome sequencing. Of the three affected siblings, one had intellectual disability and one had intellectual disability and autism, while the last one presented...... with normal development. This study contributes further to the description of the clinical spectrum associated with ALDH1A3 mutations, and illustrates the interfamilial clinical variation observed in individuals with ALDH1A3 mutations....
Full Text Available In this article, we test the capital asset pricing model (CAPM on the Warsaw Stock Exchange (WSE by measuring the performance of two portfolios composed of construction firms: family-controlled and nonfamily controlled. These portfolios were selected from the WIG-Construction (WIG—Warszawski Indeks Giełdowy—Warsaw Stock Exchange Index. The performance of both portfolios was measured in the period from 2006 to 2012 with respect to three sub-periods: (1 pre-crisis period: 2006–2007; (2 crisis period: 2008–2009; and (3 post-crisis period: 2010–2012. This division was constructed in this way to find out how family firms performed in crisis times in relation to nonfamily firms. In addition, the construction portfolio was chosen due to its sensitivity to recessions. When an economy faces a downturn, construction firms are among the first to be exposed to risk. The performance was measured by using the capital asset pricing model with statistical inference. We find that public family firms significantly outperformed non-family peers in the crisis times.
Full Text Available Abstract Background: Hearing loss (HL is the most common congenital defect in humans. One or two in thousand newborn babies have prelingual hearing loss. Autosomal recessive non-syndromic hearing loss (ARNSHL is the most common form of hereditary deafness. Hearing loss is more common in the developing countries which is due to genetic and environmental (cultural -health factors reasons. HL has a wide range of clinical demonstrations including: congenital or late onset, conductive or sensory-neural, syndromic or non-syndromic hearing loss. The goal of this project is to determine the portion of the DFNB21 (TECTA in ARNSHL in families with negative GJB2 gene in Khuzestan province. Materials and Methods: We studied 21 families with ARNSHL with at least 4 patients and negative for GJB2 mutations from Khuzestan province. Genetic linkage analysis was performed using STR markers linked to DFNB21 locus. Results: Following genetic linkage analysis and haplotyping, out of 21 families with ARNSHL, one family showed linkage to the DFNB21 (TECTA locus. Conclusion: The results of this project confirm other studies in Iran and give insight into the most common loci causing ARNSHL in Iran which could be helpful in research and clinic.
Mei, Libin; Huang, Yanru; Pan, Qian; Liang, Desheng; Wu, Lingqian
The purpose of the current research was to investigate the NDP (Norrie disease protein) gene in one Chinese family with Norrie disease (ND) and to characterize the related clinical features. Clinical data of the proband and his family members were collected. Complete ophthalmic examinations were carried out on the proband. Genomic DNA was extracted from peripheral blood leukocytes of 35 family members. Molecular analysis of the NDP gene was performed by polymerase chain reaction and direct sequencing of all exons and flanking regions. A hemizygous NDP missense mutation c.362G > A (p.Arg121Gln) in exon 3 was identified in the affected members, but not in any of the unaffected family individuals. The missense mutation c.362G > A in NDP is responsible for the Norrie disease in this family. This discovery will help provide the family members with accurate and reliable genetic counseling and prenatal diagnosis.
Anegawa, S; Bekki, Y; Furukawa, Y; Yokota, S; Torigoe, R
A 13-year-old boy was presented to the Department of Neurosurgery, Saiseikai Fukuoka General Hospital for further examinations concerning abnormal findings in the skull radiogram taken when he struck his head. His physical features showed some characteristics the same as those of pycnodysostosis as follows--proportionate dwarfism, prominent forehead, short spoon-shaped fingers, bilateral exophthalmos. A skull radiogram revealed widely open cranial sutures with no healing of the fracture and craniotomy which was performed for an acute epidural hematoma 6 years ago. Furthermore, the mandible was hypoplastic with a virtual loss of mandibular angle. CT of the soft tissues showed somewhat dilated cortical sulci and ventricles without any structural abnormalities in the brain. CT of bone algorithm revealed specific characteristics of this disease. The paranasal sinuses were quite hypoplastic. Especially in the maxillary sinuses, frontal sinuses and mastoid air cells, none of developments of sinuses were noted, even though the middle and internal ear seemed to be normal. Moreover, the ethmoid and sphenoid sinuses were noted, although their developments were poor. The appearance of skull base was normal, including the inlets and outlets of cranial nerves or vessels and synchondroses. However, the density of the skull base, especially in the diploe, was higher than normal in Hansfield number. Furthermore, detailed measurements of skull base demonstrated that the skull base itself was also dwarfism. Pycnodysostosis is a generalized skeletal disease whose cardinal features are moderate generalized osteosclerosis and dwarfism. However, the detailed observation on the cranium by CT has not been reported. In our study, the development of sinuses in bones with intramembranous ossification are worse than that with endochondral ossification.(ABSTRACT TRUNCATED AT 250 WORDS)
Full Text Available Abstract Background Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene HSF4 (Genbank accession number NM_001040667. Here, we describe a family from Pakistan with the first nonsense mutation in HSF4 thus expanding the mutational spectrum of this heat shock transcription factor gene. Methods A large consanguineous Pakistani family with autosomal recessive cataracts was collected from Quetta. Genetic linkage analysis was performed for the common known autosomal recessive cataracts loci and linkage to a locus containing HSF4 (OMIM 602438 was found. All exons and adjacent splice sites of the heat shock transcription factor 4 gene (HSF4 were sequenced. A mutation-specific restriction enzyme digest (HphI was performed for all family members and unrelated controls. Results The disease phenotype perfectly co-segregated with markers flanking the known cataract gene HSF4, whereas other autosomal recessive loci were excluded. A maximum two-point LOD score with a Zmax = 5.6 at θ = 0 was obtained for D16S421. Direct sequencing of HSF4 revealed the nucleotide exchange c.1213C > T in this family predicting an arginine to stop codon exchange (p.R405X. Conclusion We identified the first nonsense mutation (p.R405X in exon 11 of HSF4 in a large consanguineous Pakistani family with autosomal recessive cataract.
Berger, W; van Duijnhoven, G; Pinckers, A; Smits, A; Ropers, H H; Cremers, F
Linkage analysis has been performed in a large Dutch pedigree with X-linked recessive congenital stationary night blindness (CSNB) by utilizing 16 DNA markers from the proximal short arm of the human X chromosome (Xp21.1-11.2). Thirteen polymorphic markers are at least partially informative and have enabled pairwise and multipoint linkage analysis. For three loci, i.e. DXS228, the monoamine oxidase B gene and the Norrie disease gene (NDG), multipoint linkage studies have yielded maximum lod scores of > 3.0 at a recombination fraction of zero. Analysis of recombination events has enabled us to rule out the possibility that the underlying defect in this family is allelic to RP3; the gene defect could also be excluded from the proximal part of the region known to carry RP2. Linkage data are consistent with a possible involvement of the NDG but mutations in the open reading frame of this gene have not been found.
Bordbar, Mohammad Reza; Modarresi, Farzaneh; Farazi Fard, Mohammad Ali; Dastsooz, Hassan; Shakib Azad, Nader; Faghihi, Mohammad Ali
Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessive hematological disorder is due to disease-causing mutations in several genes essential for NK and T-cell granule-mediated cytotoxic function. For an effective cytotoxic response from cytotoxic T lymphocyte or NK cell encountering an infected cell or tumor cell, different processes are required, including trafficking, docking, priming, membrane fusion, and entry of cytotoxic granules into the target cell leading to apoptosis. Therefore, genes involved in these steps play important roles in the pathogenesis of HLH disease which include PRF1, UNC13D (MUNC13-4), STX11, and STXBP2 (MUNC18-2). Here, we report a novel missense mutation in an 8-year-old boy suffered from hepatosplenomegaly, hepatitis, epilepsy and pancytopenia. The patient was born to a first-cousin parents with no previous documented disease in his parents. To identify mutated gene in the proband, Whole Exome Sequencing (WES) utilizing next generation sequencing was used on an Illumina HiSeq 2000 platform on DNA sample from the patient. Results showed a novel deleterious homozygous missense mutation in PRF1 gene (NM_001083116: exon3: c. 1120 T > G, p.W374G) in the patient and then using Sanger sequencing it was confirmed in the proband and his parents. Since his parents were heterozygous for the identified mutation, autosomal recessive pattern of inheritance was confirmed in the family. Our study identified a rare new pathogenic missense mutation in PRF1 gene in patient with HLH disease and it is the first report of mutation in PRF1 in Iranian patients with this disease.
Avila-Fernandez, A.; Cantalapiedra, D.; Aller, E.; Vallespin, E.; Aguirre-Lamban, J.; Blanco-Kelly, F.; Corton, M.; Riveiro-Alvarez, R.; Allikmets, R.; Trujillo-Tiebas, M.J.; Millan, J.M.; Cremers, F.P.M.; Ayuso, C.
PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations in 272 Spanish families using a genotyping microarray. METHODS: 272 unrelated Spanish families, 107 with autosomal
Heba S. Abd-Elkhalek
In this case report, we present the challenges that we met in diagnosis and counseling of a family with both Tay–Sachs and maple syrup urine disease depending mainly on history, clinical data and a few diagnostic investigations.
Miller, Peter; Schreiber, James
This mixed methods investigation of homeless education in a major urban region identified a number of significant developments and dilemmas amid the larger homeless crisis in the United States. We found that the wider community demographics of homelessness have shifted in recent years, resulting in a higher number of homeless families--many of…
Aber, Lawrence; Chaudry, Ajay
Children and youth vary in their developmental health due to differences in family economic security and exposure to toxic stress. The economic downturn has increased the challenges facing low-income children. The American Recovery and Reinvestment Act of 2009 (ARRA) and the President's first budget made significant down-payments on investments in…
Yahalom, Claudia; Sharon, Dror; Dalia, Eli; Simhon, Shiran Ben; Shemesh, Efrat; Blumenfeld, Anat
To characterize clinical and genetic aspects of a family with a unique combination of two hereditary blinding eye diseases. Comprehensive eye examination of proband and family members. Molecular analyses of the TYR and PAX6 genes. A young couple, both legally blind, requested genetic counselling regarding their ocular condition. The female was previously diagnosed with oculocutaneous albinism (OCA1A) and her spouse was diagnosed with Peters anomaly. A comprehensive clinical examination revealed that the female had OCA1A combined with signs of another ocular disease, showing some similarity to aniridia. A complete ocular examination of her family members revealed that her brother also suffered from the same combined phenotype, her father had typical OCA1A signs, and her mother and sister had aniridia-like phenotype, without clinical diagnosis until the time of presentation. Molecular analysis identified two compound heterozygous TYR mutations known to cause OCAIA and cosegregate with oculocutaneous albinism. In addition, we identified a novel heterozygous PAX6 mutation confirming the atypical aniridia phenotype. We report here a unique and rare clinical phenotype that is explained by the segregation of two severe inherited eye diseases. The clinical and genetic analysis in this family allowed them to receive accurate genetic counseling.
Full Text Available Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure. Here we report the development and the first clinical application of the PGD for this MKS3 family. Molecular analysis protocol for clinical PGD procedure was established using 50 single cells in pre-clinical set-up. After whole genomic amplification by multiple displacement amplification with the DNA from single cells, three techniques were applied simultaneously to increase the accuracy and reliability of genetic diagnosis in single blastomere, including real-time PCR with Taq Man-MGB probe, haplotype analysis with polymorphic STR markers and Sanger sequencing. In the clinical PGD cycle, nine embryos at cleavage-stage were biopsied and subjected to genetic diagnosis. Two embryos diagnosed as free of TMEM67 mutation were transferred and one achieving normal pregnancy. Non-invasive prenatal assessment of trisomy 13, 18 and 21 by multiplex DNA sequencing at 18 weeks' gestation excluded the aneuploidy of the analyzed chromosomes. A healthy boy was delivered by cesarean section at 39 weeks' gestation. DNA sequencing from his cord blood confirmed the result of genetic analysis in the PGD cycle. The protocol developed in this study was proved to be rapid and safe for the detection of monogenic mutations in clinical PGD cycle.
Uzak, Asli Subasioglu; Tokgoz, Bulent; Dundar, Munis; Tekin, Mustafa
Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal failure typically resulting in end-stage renal disease, sensorineural hearing loss, and variable ocular abnormalities. Only 15% of cases with AS are autosomal recessive and are caused by mutations in the COL4A3 or COL4A4 genes, encoding type IV collagen. Clinical data in a large consanguineous family with four affected members were reviewed, and genomic DNA was extracted. For mapping, 15 microsatellite markers flanking COL4A3, COL4A4, and COL4A5 in 16 family members were typed. For mutation screening, all coding exons of COL4A3 were polymerase chain reaction- amplified and Sanger-sequenced from genomic DNA. The disease locus was mapped to chromosome 2q36.3, where COL4A3 and COL4A4 reside. Sanger sequencing revealed a novel mis-sense mutation (c.2T>C; p.M1T) in exon 1 of COL4A3. The identified nucleotide change was not found in 100 healthy ethnicity-matched controls via Sanger sequencing. We present a large consanguineous Turkish family with AS that was found to have a COL4A3 mutation as the cause of the disease. Although the relationship between the various genotypes and phenotypes in AS has not been fully elucidated, detailed clinical and molecular analyses are helpful for providing data to be used in genetic counseling. It is important to identify new mutations to clarify their clinical importance, to assess the prognosis of the disease, and to avoid renal biopsy for final diagnosis.
Riveiro-Alvarez, Rosa; Lopez-Martinez, Miguel-Angel; Zernant, Jana; Aguirre-Lamban, Jana; Cantalapiedra, Diego; Avila-Fernandez, Almudena; Gimenez, Ascension; Lopez-Molina, Maria-Isabel; Garcia-Sandoval, Blanca; Blanco-Kelly, Fiona; Corton, Marta; Tatu, Sorina; Fernandez-San Jose, Patricia; Trujillo-Tiebas, Maria-Jose; Ramos, Carmen; Allikmets, Rando; Ayuso, Carmen
To provide a comprehensive overview of all detected mutations in the ABCA4 gene in Spanish families with autosomal recessive retinal disorders, including Stargardt's disease (arSTGD), cone-rod dystrophy (arCRD), and retinitis pigmentosa (arRP), and to assess genotype-phenotype correlation and disease progression in 10 years by considering the type of variants and age at onset. Case series. A total of 420 unrelated Spanish families: 259 arSTGD, 86 arCRD, and 75 arRP. Spanish families were analyzed through a combination of ABCR400 genotyping microarray, denaturing high-performance liquid chromatography, and high-resolution melting scanning. Direct sequencing was used as a confirmation technique for the identified variants. Screening by multiple ligation probe analysis was used to detect possible large deletions or insertions in the ABCA4 gene. Selected families were analyzed further by next generation sequencing. DNA sequence variants, mutation detection rates, haplotypes, age at onset, central or peripheral vision loss, and night blindness. Overall, we detected 70.5% and 36.6% of all expected ABCA4 mutations in arSTGD and arCRD patient cohorts, respectively. In the fraction of the cohort where the ABCA4 gene was sequenced completely, the detection rates reached 73.6% for arSTGD and 66.7% for arCRD. However, the frequency of possibly pathogenic ABCA4 alleles in arRP families was only slightly higher than that in the general population. Moreover, in some families, mutations in other known arRP genes segregated with the disease phenotype. An increasing understanding of causal ABCA4 alleles in arSTGD and arCRD facilitates disease diagnosis and prognosis and also is paramount in selecting patients for emerging clinical trials of therapeutic interventions. Because ABCA4-associated diseases are evolving retinal dystrophies, assessment of age at onset, accurate clinical diagnosis, and genetic testing are crucial. We suggest that ABCA4 mutations may be associated with a
Full Text Available Abstract Background: Hearing loss is a common sensory impairment in humans which half of its causes are genetic reasons. Genetic hearing loss can be divided into the two types of syndromic and non-syndromic, which 80% of non-syndromic cases is Autosomal Recessive Non-Syndromic Hearing Loss. The aim of the present research is to determine the contribution of DFNB2 locus (MYO7A gene in causing an autosomal recessive hearing loss in the one group of the deaf families of Khuzestan province. Materials and Methods: This study was conducted on 26 families with autosomal recessive hearing loss (with 4 patients and negative for GJB2 mutations in Khuzestan province. 22 families suffered from ARNSHL and 4 families suffered from Usher syndrome. Linkage analysis was performed by using STR (Short Tandem Repeat markers related to DFNB2 locus. Each family’s genotype was determined by PCR-PAGE method. Furthermore, haplotypes drawing and LOD score calculations were performed. Results: From 26 families with hearing loss participating in this research, following genetic linkage analysis and haplotypes drawing, two families (7.7% of the families showed linkage to DFNB2 locus. One family (4.5% suffered from ARNSHL and another family suffered from Usher syndrome. Conclusion: The results of the present research show that the contribution of DFNB2 locus in causing hearing loss in the population of Khuzestan province was similar to other studies conducted in Iran and this locus with other important loci should be considered to check in the hearing loss panel.
Basel-Vanagaite, L; Attia, R; Yahav, M; Ferland, R J; Anteki, L; Walsh, C A; Olender, T; Straussberg, R; Magal, N; Taub, E; Drasinover, V; Alkelai, A; Bercovich, D; Rechavi, G; Simon, A J; Shohat, M
The molecular basis of autosomal recessive non-syndromic mental retardation (NSMR) is poorly understood, mostly owing to heterogeneity and absence of clinical criteria for grouping families for linkage analysis. Only two autosomal genes, the PRSS12 gene on chromosome 4q26 and the CRBN on chromosome 3p26, have been shown to cause autosomal recessive NSMR, each gene in only one family. To identify the gene causing autosomal recessive NSMR on chromosome 19p13.12. The candidate region established by homozygosity mapping was narrowed down from 2.4 Mb to 0.9 Mb on chromosome 19p13.12. A protein truncating mutation was identified in the gene CC2D1A in nine consanguineous families with severe autosomal recessive NSMR. The absence of the wild type protein in the lymphoblastoid cells of the patients was confirmed. CC2D1A is a member of a previously uncharacterised gene family that carries two conserved motifs, a C2 domain and a DM14 domain. The C2 domain is found in proteins which function in calcium dependent phospholipid binding; the DM14 domain is unique to the CC2D1A protein family and its role is unknown. CC2D1A is a putative signal transducer participating in positive regulation of I-kappaB kinase/NFkappaB cascade. Expression of CC2D1A mRNA was shown in the embryonic ventricular zone and developing cortical plate in staged mouse embryos, persisting into adulthood, with highest expression in the cerebral cortex and hippocampus. A previously unknown signal transduction pathway is important in human cognitive development.
Basel‐Vanagaite, L; Attia, R; Yahav, M; Ferland, R J; Anteki, L; Walsh, C A; Olender, T; Straussberg, R; Magal, N; Taub, E; Drasinover, V; Alkelai, A; Bercovich, D; Rechavi, G; Simon, A J; Shohat, M
Background The molecular basis of autosomal recessive non‐syndromic mental retardation (NSMR) is poorly understood, mostly owing to heterogeneity and absence of clinical criteria for grouping families for linkage analysis. Only two autosomal genes, the PRSS12 gene on chromosome 4q26 and the CRBN on chromosome 3p26, have been shown to cause autosomal recessive NSMR, each gene in only one family. Objective To identify the gene causing autosomal recessive NSMR on chromosome 19p13.12. Results The candidate region established by homozygosity mapping was narrowed down from 2.4 Mb to 0.9 Mb on chromosome 19p13.12. A protein truncating mutation was identified in the gene CC2D1A in nine consanguineous families with severe autosomal recessive NSMR. The absence of the wild type protein in the lymphoblastoid cells of the patients was confirmed. CC2D1A is a member of a previously uncharacterised gene family that carries two conserved motifs, a C2 domain and a DM14 domain. The C2 domain is found in proteins which function in calcium dependent phospholipid binding; the DM14 domain is unique to the CC2D1A protein family and its role is unknown. CC2D1A is a putative signal transducer participating in positive regulation of I‐κB kinase/NFκB cascade. Expression of CC2D1A mRNA was shown in the embryonic ventricular zone and developing cortical plate in staged mouse embryos, persisting into adulthood, with highest expression in the cerebral cortex and hippocampus. Conclusions A previously unknown signal transduction pathway is important in human cognitive development. PMID:16033914
Full Text Available Abstract Background Senataxin (chromosome 9q34 was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA, termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2 and characterized by generalized incoordination, cerebellar atrophy, peripheral neuropathy, "oculomotor apraxia" and increased alpha-fetoprotein (AFP. Here, we report a novel Senataxin mutation in a Cypriot ARCA family. Methods We studied several Cypriot autosomal recessive cerebellar ataxia (ARCA families for linkage to known ARCA gene loci. We linked one family (909 to the SETX locus on chromosome 9q34 and screened the proband for mutations by direct sequencing. Results Sequence analysis revealed a novel c.5308_5311delGAGA mutation in exon 11 of the SETX gene. The mutation has not been detected in 204 control chromosomes from the Cypriot population, the remaining Cypriot ARCA families and 37 Cypriot sporadic cerebellar ataxia patients. Conclusion We identified a novel SETX homozygous c.5308_5311delGAGA mutation that co-segregates with ARCA with cerebellar atrophy and raised AFP.
Zhang, Xiao Xia; Wong, Sing Wai; Han, Dong; Feng, Hai Lan
To describe the simultaneous occurence of an autosomal dominant inherited MSX1 mutation and an X-linked recessive inherited EDA mutation in one Chinese family with nonsyndromic oligodontia. Clinical data of characteristics of tooth agenesis were collected. MSX1 and EDA gene mutations were detected in a Chinese family of non-syndromic oligodontia. Mild hypodontia in the parents and severe oligodontia in the son was recorded. A novel missense heterozygous mutation c.517C>A (p.Arg173Ser) was detected in the MSX1 gene in the boy and the father. A homozygous missense mutation c.1001G>A (p.Arg334His) was detected in the EDA gene in the boy and the same mutant occurred heterozygously in the mother. Simultaneous occurence of two different gene mutations with different inheritence patterns, which both caused oligodontia, which occurred in one subject and in one family, was reported.
Oladnabi, Morteza; Musante, Luciana; Larti, Farzaneh; Hu, Hao; Abedini, Seyedeh Sedigheh; Wienker, Thomas; Ropers, Hans Hilger; Kahrizi, Kimia; Najmabadi, Hossein
Knowledge of the genes responsible for intellectual disability, particularly autosomal recessive forms, is rapidly expanding. Increasing numbers of the gene show great heterogeneity and supports the hypothesis that human genome may contain over 2000 causative genes with a critical role in brain development. Since 2004, we have applied genome-wide SNP genotyping and next-generation sequencing in large consanguineous Iranian families with intellectual disability, to identify the genes harboring disease-causing mutations. The current study paved the way for identification of responsible genes in two unrelated Iranian families. We found two novel nonsense mutations, p.C77* and p.Q115*, in the calpain catalytic domain of CAPN10, which is a cysteine protease known to be involved in pathogenesis of noninsulin-dependent diabetes mellitus. Another different mutation in this gene (p.S138_R139ins5) has previously been reported in an Iranian family. All of these patients have common clinical features in spite of specific brain structural abnormalities on MRI. Different mutations in CAPN10 have already been found in three independent Iranian families. These results have strongly supported the possible role of CAPN10 in human brain development. Altogether, we proposed CAPN10 as a promising candidate gene for intellectual disability, which should be considered in diagnostic gene panels.
Zobor, Ditta; Balousha, Ghassan; Baumann, Britta; Wissinger, Bernd
Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 45 genes. Recently, the FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP. We performed a clinical and molecular genetic study of a consanguineous Palestinian family with two three siblings affected with retinitis pigmentosa. DNA samples were collected from the index patient, his father, his affected sister, and two non-affected brothers. DNA sample from the index was subjected to high resolution genome-wide SNP array. Assuming identity-by-descent in this consanguineous family we applied homozygosity mapping to identify disease causing genes. The index patient reported night blindness since the age of 20 years, followed by moderate disease progression with decrease of peripheral vision, the development of photophobia and later on reduced central vision. At the age of 40 his visual acuity was counting fingers (CF) for both eyes, color discrimination was not possible and his visual fields were severely constricted. Funduscopic examination revealed a typical appearance of advanced RP with optic disc pallor, narrowed retinal vessels, bone-spicule like pigmentary changes in the mid-periphery and atrophic changes in the macula. His younger affected brother (37 years) was reported with overall milder symptoms, while the youngest sister (21 years) reported problems only with night vision. Applying high-density SNP arrays we identified several homozygous genomic regions one of which included the recently identified FAM161A gene mutated in RP28-linked autosomal recessive RP. Sequencing analysis revealed the presence of a novel homozygous nonsense mutation, c.1003C>T/p.R335X in the index patient and the affected sister. We identified an RP28-linked RP family in the Palestinian population caused by a novel nonsense mutation in FAM161A. RP in this family shows a typical disease onset with moderate to rapid progression
Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications.
Watson, Kendra D; Schoch, Jennifer J; Beek, Geoffrey J; Hand, Jennifer L
An 8-year-old girl born to a family with more than three generations of dominant dystrophic epidermolysis bullosa (DDEB) presented with life-threatening confluent skin erosions, mitten hand deformity, and failure to thrive. Reassessment of her family history and genetic testing showed compound heterozygous COL7A mutations, one inherited from her DDEB-affected mother and one from her unaffected, healthy father. This family illustrates the risk of unexpected, severe, autosomal recessive epidermolysis bullosa (EB) in a family with milder, multigenerational autosomal dominant EB. Clinicians should recognize the clinical spectrum of dystrophic EB and recommend genetic consultation when the phenotype conflicts with family history. © 2017 Wiley Periodicals, Inc.
Torkamandi, Shahram; Gholami, Milad; Mohammadi-Asl, Javad; Rezaie, Somaye; Zaimy, Mohammad Ali; Omrani, Mir Davood
Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. Here we describe a novel acceptor splice site mutation c.730-2 A>G(IVS 8-2 A>G) in EDAR gene in homozygous form in all affected members of a family,and in heterozygous form in carriers. Bioinformatics analysis showed that this mutation can create a new broken splicing site and lead to aberrant splicing.
Full Text Available Recessive hereditary methemoglobinemia (RCM associated with severe neurological abnormalities is a very rare disorder caused by NADH- cytochrome b5 reductase (cb5r deficiency (Type II. We report a case of 11 month old male child who had severe mental retardation, microcephaly and gross global developmental delay with methemoglobin level of 61.1%. The diagnosis of NADH-CYB5R3 deficiency was made by the demonstration of significantly reduced NADH-CYB5R3 activity in the patient and intermediate enzyme activity in both the parents. Mutation analysis of the CYB5R gene revealed a novel nine nucleotide deletion in exon 6 leading to the elimination of 3 amino acid residues (Lys173, Ser174 and Val 175. To confirm that this mutation was not an artifact, we performed PCR-RFLP analysis using the restriction enzyme Drd I. As the normal sequence has a restriction recognition site for Drd I which was eliminated by the deletion, a single band of 603-bp was seen in the presence of the homozygous mutation. Molecular modeling analysis showed a significant effect of these 3 amino acids deletion on the protein structure and stability leading to a severe clinical presentation. A novel homozygous 9 nucleotide deletion (p.K173–p.V175del3 is shown to be segregated with the disease in this family. Knowing the profile of mutations would allow us to offer prenatal diagnosis in families with severe neurological disorders associated with RCM — Type II.
Christiansen, Charlotte; Eriksen, Jonas Nygaard; Møller, Stig Vinther
We study the role of sentiment variables as predictors for US recessions. We combine sentiment variables with either classical recession predictors or common factors based on a large panel of macroeconomic and financial variables. Sentiment variables hold vast predictive power for US recessions...
Full Text Available Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively. Here we confirm the clinical diagnosis of a family diagnosed with a myotonic condition many years ago and report a new mutation in the CLCN1 gene. The clinical diagnosis was established using ocular, cardiac, neurological and electrophysiological tests and the molecular diagnosis was done by PCR, SSCP and sequencing of the CLCN1 gene. The proband and the other affected individuals exhibited proximal and distal muscle weakness but no hypertrophy or muscular pain was found. The myotatic reflexes were lessened and sensibility was normal. Electrical and clinical myotonia was found only in the sufferers. Slit lamp and electrocardiogram tests were normal. Two affected probands presented diminution of the sensitive conduction velocities and prolonged sensory distal latencies. The clinical spectrum for this family is in agreement with a clinical diagnosis of Becker myotonia. This was confirmed by molecular diagnosis where a new disease-causing mutation (Q412P was found in the family and absent in 200 unaffected chromosomes. No latent myotonia was found in this family; therefore the ability to cause this subclinical sign might be intrinsic to each mutation. Implications of the structure-function-genotype relationship for this and other mutations are discussed. Adequate clinical diagnosis of a neuromuscular disorder would allow focusing the molecular studies toward the confirmation of the initial diagnosis, leading to a proper clinical management, genetic counseling and improving in the quality of life of the patients and relatives. Rev. Biol. Trop. 56 (1: 1-11. Epub 2008 March 31.La miotonía congénita es una enfermedad muscular caracterizada por miotonía, hipertrofia y rigidez. Se presenta con dos patrones de herencia, autosómica dominante en cuyo
Stitziel, Nathan O.; Fouchier, Sigrid W.; Sjouke, Barbara; Peloso, Gina M.; Moscoso, Alessa M.; Auer, Paul L.; Goel, Anuj; Gigante, Bruna; Barnes, Timothy A.; Melander, Olle; Orho-Melander, Marju; Duga, Stefano; Sivapalaratnam, Suthesh; Nikpay, Majid; Martinelli, Nicola; Girelli, Domenico; Jackson, Rebecca D.; Kooperberg, Charles; Lange, Leslie A.; Ardissino, Diego; McPherson, Ruth; Farrall, Martin; Watkins, Hugh; Reilly, Muredach P.; Rader, Daniel J.; de Faire, Ulf; Schunkert, Heribert; Erdmann, Jeanette; Samani, Nilesh J.; Charnas, Lawrence; Altshuler, David; Gabriel, Stacey; Kastelein, John J. P.; Defesche, Joep C.; Nederveen, Aart J.; Kathiresan, Sekar; Hovingh, G. Kees
Objective Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1. We identified a family with autosomal recessive hypercholesterolemia not
Recession is having an impact on training departments. Besides a slowdown, it provides managers with a chance to reevaluate programs to ensure they are attuned to the specific goals of the company. (JOW)
Laursen, Morten Godtfredsen
Gingival recessions and biomechanics “Tissue is the issue, but bone sets the tone.“ A tooth outside the cortical plate can result in loss of bone and development of a gingival recession. The presentation aims to show biomechanical considerations in relation to movement of teeth with gingival...... by moving the root back in the alveolus. The tooth movement is accompanied by bone gain and thus increase the success rate for soft tissue augmentation. The choice of biomechanical system influences the treatment outcome. If a standard straight wire appliance is used, a biomechanical dilemma can arise...
Full Text Available Different ethnic groups have distinct mutation spectrums associated with inheritable deafness. In order to identify the mutations responsible for congenital hearing loss in the Tibetan population, mutation screening for 98 deafness-related genes by microarray and massively parallel sequencing of captured target exons was conducted in one Tibetan family with familiar hearing loss. A homozygous mutation, TMPRSS3: c.535G>A, was identified in two affected brothers. Both parents are heterozygotes and an unaffected sister carries wild type alleles. The same mutation was not detected in 101 control Tibetan individuals. This missense mutation results in an amino acid change (p.Ala179Thr at a highly conserved site in the scavenger receptor cysteine rich (SRCR domain of the TMPRSS3 protein, which is essential for protein-protein interactions. Thus, this mutation likely affects the interactions of this transmembrane protein with extracellular molecules. According to our bioinformatic analyses, the TMPRSS3: c.535G>A mutation might damage protein function and lead to hearing loss. These data suggest that the homozygous mutation TMPRSS3: c.535G>A causes prelingual hearing loss in this Tibetan family. This is the first TMPRSS3 mutation found in the Chinese Tibetan population.
Orlacchio, Antonio; Babalini, Carla; Borreca, Antonella; Patrono, Clarice; Massa, Roberto; Basaran, Sarenur; Munhoz, Renato P.; Rogaeva, Ekaterina A.; St George-Hyslop, Peter H.; Bernardi, Giorgio; Kawarai, Toshitaka
The mutation of the spatacsin gene is the single most common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. Common clinical, pathological and genetic features between amyotrophic lateral sclerosis and hereditary spastic paraplegia motivated us to investigate 25 families with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival for mutations in the spatascin gene. The inclusion criterion was a diagnosis of clinically definite ...
Pawlowski, Charlotte Skau; Tjørnhøj-Thomsen, Tine; Schipperijn, Jasper
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...... this study, we recommend promoting recess physical activity through a combination of actions, addressing barriers within the natural, social, physical and organizational environment....
Kumar, Amandeep; Bansal, Ankit; Garg, Ajay; Sharma, Bhawani S.
Abstract Anophthalmia is a rare ocular malformation. It is a genetically determined disorder and is typically associated with syndromes. However, sporadic nonsyndromic familial as well as non-familial cases of anophthalmia have also been reported. Non-syndromic familial cases are usually bilateral and have been attributed to autosomal recessive, autosomal dominant, and X-linked inheritance patterns. The authors hereby report a rare case of autosomal recessive unilateral anophthalmia in a patient with no other associated congenital anomaly. Patient was operated for craniopharyngioma. The clinical, radiological and intraoperative findings are discussed. PMID:27928292
Three children with bilateral congenital megacalyces from a consanguinous marriage are reported. No renal abnormality was detected in the parents. Our observation supports the genetic nature of the disease. The ultrasonographic features of congenital megacalyces are described. (orig.)
In 2002, the world output for copper will fall for the first time in nearly a decade because of financial pressure and voluntary constraints. Cutbacks at copper mines amount to 760,000 tonnes per year. These cutbacks have occurred mostly in the United States which holds the largest share of high cost mines. This paper discussed recent developments in both copper supply and demand. The United States is unique as both a large consumer and producer of copper. At 1.35 million tonnes, US mine output in 2001 was at its lowest since 1987. The cutbacks in mining in general were described in this paper with particular reference to the huge loss of mining and metallurgical activity in the United States during a prolonged period of low prices in the mid 1980s. The author noted that this period was followed by an exceptional decade when much of the industry rebounded. Only 8 mines closed outright in the United States and a handful in Canada since the recession of the 1980s, but that is partly because mines got bigger and there are fewer small mines in North America. There are only 4 electrolytic refineries and 3 smelters still active in the entire United States, of which 2 are operating at a fraction of capacity. It was noted that only the buoyancy of China prevented a much bigger decline in copper demand on a global scale
This paper examines five possible explanations for the Great Recession of 2008 and 2009, using data for the United States and the eurozone. Of these five hypotheses, four are not supported by the data, while the fifth appears reasonable.
Brooks-Gunn, Jeanne; Schneider, William; Waldfogel, Jane
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. Copyright © 2013 Elsevier Ltd. All rights reserved.
Palin, Eino J H; Hakonen, Anna H; Korpela, Mari; Paetau, Anders; Suomalainen, Anu
We studied the genetic background of a family with SCA, showing dominant inheritance and anticipation. Muscle histology, POLG1 gene sequence, neuropathology and mitochondrial DNA analyses in a mother and a son showed typical findings for a mitochondrial disorder, and both were shown to be homozygous for a recessive POLG1 mutation, underlying mitochondrial recessive ataxia syndrome, MIRAS. The healthy father was a heterozygous carrier for the same mutation. Recessively inherited MIRAS mutations should be tested in dominantly inherited SCAs cases of unknown cause, as the high carrier frequency of MIRAS may result in two independent introductions of the mutant allele in the family and thereby mimic dominant inheritance. Copyright © 2011 Elsevier B.V. All rights reserved.
van Ours, J.C.
The Great Recession is characterized by a GDP-decline that was unprecedented in the past decades. This paper discusses the implications of the Great Recession analyzing labor market data from 20 OECD countries. Comparing the Great Recession with the 1980s recession it is concluded that there is a
Schneider, William; Waldfogel, Jane; Brooks-Gunn, Jeanne
This paper examines the association between the Great Recession and four measures of the risk for maternal child abuse and neglect: (1) maternal physical aggression; (2) maternal psychological aggression; (3) physical neglect by mothers; and (4) supervisory/exposure neglect by mothers. It draws on rich longitudinal data from the Fragile Families and Child Wellbeing Study, a longitudinal birth cohort study of families in 20 U.S. cities (N = 3,177; 50% African American, 25% Hispanic; 22% non-Hispanic white; 3% other). The study collected information for the 9-year follow-up survey before, during, and after the Great Recession (2007-2010). Interview dates were linked to two macroeconomic measures of the Great Recession: the national Consumer Sentiment Index and the local unemployment rate. Also included are a wide range of socio-demographic controls, as well as city fixed effects and controls for prior parenting. Results indicate that the Great Recession was associated with increased risk of child abuse but decreased risk of child neglect. Households with social fathers present may have been particularly adversely affected. Results also indicate that economic uncertainty during the Great Recession, as measured by the Consumer Sentiment Index and the unemployment rate, had direct effects on the risk of abuse or neglect, which were not mediated by individual-level measures of economic hardship or poor mental health.
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…
In a recent screening programme on hearing loss (HL), we examined 17 common autosomal recessive nonsyndromic hearing loss (ARNSHL) genes in every consanguineous Ira- nian family with ARNSHL that was referred to our centre. We first screened GJB2 mutations and then utilized a panel of three to four short ...
DAMACIO RAMÓN KAIMEN-MACIEL
Full Text Available A doença de Kennedy (DK é forma rara de doença do neurônio motor caracterizada por mutação na região codificadora do gene do receptor androgênico localizado no braço longo do cromossoma X (Xq 11-12. Há expansão das sequências de trinucleotídeos CAG que nos pacientes deve atingir número maior do que 347 repetições de pares de bases. Apresentamos quatro gerações de uma família com dez indivíduos acometidos. Avaliamos três pacientes do sexo masculino com idade variando entre 50 e 60 anos que desenvolveram sintomatologia por volta de 30 anos de idade caracterizada por fraqueza muscular progressiva associada a disfagia e disartria. O exame demonstrou ginecomastia, atrofia testicular, amiotrofia, fasciculações, paresia, abolição de reflexos e tremor postural. A análise do DNA pela técnica do PCR demonstrou número de repetições CAG aumentado no locus Xq 11-12 nos três pacientes e em uma mulher assintomática da família. Demonstramos a primeira família brasileira com diagnóstico de DK através de genética molecular. A DK deve fazer parte do diagnóstico diferencial das doenças do neurônio motor e a identificação destes pacientes é importante para o prognóstico e para o aconselhamento genético.Kennedy's disease is a rare type of motor neuron disease with a sex-linked recessive trait. DNA studies show a mutation at the androgen receptor gene on the long arm of X cromossome (Xq 11-12 with expanded CAG triplets (more than 347 repeats. We present three patients and one carrier among ten patients of a four generation family with clinical phenotype of the disease. The patients' ages ranged from 50 to 60 years with symptomatology usually beginning around 30 years of age. Patients had gynecomastia, testicular atrophy, muscular weakness, fasciculation, amyotrophy, absent deep tendon reflexes and postural tremor. PCR techniques of DNA analysis showed expanded size of CAG repeats on Xq 11-12 in all the three patients and in
In this article recession magnitudes in Europe, the USA and Japan during the Great Recession are compared. The strongest recessions (of severe category) occurred in Latvia, Lithuania and Estonia, while recessions in Japan and the USA were significantly weaker. Even the strongest recession (in Latvia) was found smaller in its magnitude than the Great Depression 1929-1933 in the USA. Hence, comparisons of the Great Recession to the Great Depression in the literature are somewhat exaggerated.
Orlacchio, Antonio; Babalini, Carla; Borreca, Antonella; Patrono, Clarice; Massa, Roberto; Basaran, Sarenur; Munhoz, Renato P; Rogaeva, Ekaterina A; St George-Hyslop, Peter H; Bernardi, Giorgio; Kawarai, Toshitaka
The mutation of the spatacsin gene is the single most common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. Common clinical, pathological and genetic features between amyotrophic lateral sclerosis and hereditary spastic paraplegia motivated us to investigate 25 families with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival for mutations in the spatascin gene. The inclusion criterion was a diagnosis of clinically definite amyotrophic lateral sclerosis according to the revised El Escorial criteria. The exclusion criterion was a diagnosis of hereditary spastic paraplegia with thin corpus callosum in line with an established protocol. Additional pathological and genetic evaluations were also performed. Surprisingly, 12 sequence alterations in the spatacsin gene (one of which is novel, IVS30 + 1 G > A) were identified in 10 unrelated pedigrees with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival. The countries of origin of these families were Italy, Brazil, Canada, Japan and Turkey. The variants seemed to be pathogenic since they co-segregated with the disease in all pedigrees, were absent in controls and were associated with amyotrophic lateral sclerosis neuropathology in one member of one of these families for whom central nervous system tissue was available. Our study indicates that mutations in the spatascin gene could cause a much wider spectrum of clinical features than previously recognized, including autosomal recessive juvenile amyotrophic lateral sclerosis.
Full Text Available Since 2008, many nations, including the United States, have struggled with the effects of a global recession. The state of California has been particularly impacted by the Great Recession. Unemployment rates in California are among the highest in the United States, and a weak fiscal environment has forced deep cutbacks to a variety of state services. This study uses California as a case to explore the effects of economic crisis on public schools and the students they serve. The study draws on two years of survey and interview data with a representative sample of public school principals across California. The data show that, during the Great Recession, students have experienced growing social welfare needs that often shape their well-being and their performance in schools. We also find that the capacity of public schools to meet these needs and provide quality education has been eroded by budget cuts. This study finds that schools primarily serving low-income families have been hardest hit during the recession, in part because they cannot raise private dollars to fill the gap left by public sector cuts. The Great Recession thus has undermined educational quality while producing widening educational inequality in California.
Mariner, Jean A. Miller; Miller, Richard A.
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…
Presented are alternate designs for two existing bridges in Virginia - one with steel beams and the other with prestressed concrete beams - whereby the pier caps are recessed within the depth of the longitudinal beams. The purpose of this recession i...
Ridgers, Nicola D.; Saint-Maurice, Pedro F.; Welk, Gregory J.; Siahpush, Mohammad; Huberty, Jennifer
Background: School recess provides a daily opportunity for physical activity engagement. The purpose of this study was to examine physical activity levels during recess by gender, ethnicity, and grade, and establish the contribution of recess to daily school physical activity levels. Methods: Two hundred and ten children (45% boys) from grades 3…
Schneider, Daniel; Harknett, Kristen; McLanahan, Sara
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.
Musante, Luciana; Ropers, H. Hilger
Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent studies have revealed that sporadic cases are often due to dominant de novo mutations with low recurrence risk. For autosomal recessive ID (ARID) the recurrence risk is high and, in populations with frequent parental consanguinity, ARID is the most common form of ID. Even so, its elu...
Johnston, Jennifer J; van der Smagt, Jasper J; Rosenfeld, Jill A; Pagnamenta, Alistair T; Alswaid, Abdulrahman; Baker, Eva H; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David B; van Gassen, Koen L; Gulsuner, Suleyman; Harr, Margaret H; Jain, Mahim; Kuechler, Alma; Leppig, Kathleen A; McDonald-McGinn, Donna M; Can, Ngoc Thi Bich; Peleg, Amir; Roeder, Elizabeth R; Rogers, R Curtis; Sagi-Dain, Lena; Sapp, Julie C; Schäffer, Alejandro A; Schanze, Denny; Stewart, Helen; Taylor, Jenny C; Verbeek, Nienke E; Walkiewicz, Magdalena A; Zackai, Elaine H; Zweier, Christiane; Zenker, Martin; Lee, Brendan; Biesecker, Leslie G
PurposeTo characterize the molecular genetics of autosomal recessive Noonan syndrome.MethodsFamilies underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.ResultsTwelve families with a total of 23 affected children with features of Noonan syndrome were evaluated. The phenotypic range included mildly affected patients, but it was lethal in some, with cardiac disease and leukemia. All of the parents were unaffected. Linkage analysis using a recessive model supported a candidate region in chromosome 22q11, which includes LZTR1, previously shown to harbor mutations in patients with Noonan syndrome inherited in a dominant pattern. Sequencing analyses of 21 live-born patients and a stillbirth identified biallelic pathogenic variants in LZTR1, including putative loss-of-function, missense, and canonical and noncanonical splicing variants in the affected children, with heterozygous, clinically unaffected parents and heterozygous or normal genotypes in unaffected siblings.ConclusionThese clinical and genetic data confirm the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1.Genet Med advance online publication, 22 February 2018; doi:10.1038/gim.2017.249.
Murphy, S M
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.
Murphy, S M; Kieran, I; Shaughnessy, M O
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.
Thomas, P K; Claus, D; King, R H
A family is described with presumed autosomal recessive inheritance in which three siblings developed a progressive neuropathy that combined limb weakness and severe distal sensory loss leading to prominent mutilating changes. Electrophysiological and nerve biopsy findings indicated an axonopathy. The disorder is therefore classifiable as type II hereditary motor and sensory neuropathy (HMSN II). The clinical features differ from those reported in previously described cases of autosomal recessive HMSN II. This disorder may therefore represent a new variant.
Nevo, S.; Zeltzer, M.; Benderly, A.; Levy, J.
Three cases of cerebral gigantism, two sibs and their double first cousin, are described in a large inbred family from Israel. Two of the three were observed and diagnosed at birth and two were followed for two years. They all presented the signs and symptoms considered typical of this syndrome, as well as some of the less frequent findings. Generalized oedema and flexion contractures of the feet were observed in two of the three at birth. This has not hitherto been reported in cases of cerebral gigantism, of whom only a few have been observed and diagnosed at birth. Autosomal recessive inheritance is clearly implied in this family. Images PMID:4841084
Mattingly, Marybeth J.; Smith, Kristin E.
American families are experiencing the effects of the "Great Recession." Most of the job losses are accruing to men, so families may find it strategic for wives to enter the labor force, or increase their work hours. We consider this possibility using the May 2008 and 2009 Current Population Survey, and compare findings to May 2004 and 2005 data,…
Ferlazzo, Edoardo; Striano, Pasquale; Italiano, Domenico; Calarese, Tiziana; Gasparini, Sara; Vanni, Nicola; Fruscione, Floriana; Genton, Pierre; Zara, Federico
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis is an extremely rare condition, so far reported in a single family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. Genetic study allowed to identify a homozygous nonsynonymous mutation in CERS1, the gene encoding ceramide synthase 1, a transmembrane protein of the endoplasmic reticulum (ER), catalyzes the biosynthesis of C18-ceramides. The mutation decreased C18-ceramide levels. In addition, downregulation of CerS1 in neuroblastoma cell line showed activation of ER stress response and induction of proapoptotic pathways. This observation demonstrates that impairment of ceramide biosynthesis underlies neurodegeneration in humans.
Musante, Luciana; Ropers, H Hilger
Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent studies have revealed that sporadic cases are often due to dominant de novo mutations with low recurrence risk. For autosomal recessive ID (ARID) the recurrence risk is high and, in populations with frequent parental consanguinity, ARID is the most common form of ID. Even so, its elucidation has lagged behind. Here we review recent progress in this field, show that ARID is not rare even in outbred Western populations, and discuss the prospects for improving its diagnosis and prevention. Copyright © 2013 Elsevier Ltd. All rights reserved.
Knudsen, Eirik Sjåholm; Foss, Kirsten
The economic theory of the firm offers conflicting predictions of how the two major effects of recessions, changes in demand and access to credit, affect firm boundaries. Using data on Norwegian firms in the recent recession, we find support for both increased and reduced vertical integration...... explanation for the conflicting theoretical predictions regarding vertical integration in response to demand and credit shocks....
Moffitt, Robert A.
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
Teebi, A S; Naguib, K K; Al-Awadi, S; Al-Saleh, Q A
Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short s...
Banks, Nicole; Bryant, Joy; Fischer, Roxanne; Huizing, Marjan; Gahl, William A; Gunay-Aygun, Meral
Autosomal recessive polycystic kidney disease (ARPKD) is the most common childhood-onset ciliopathy. As treatments improve, more women are reaching reproductive age, but little is known about ARPKD and pregnancy. In our ongoing study on ARPKD and other ciliopathies, 12 females over 18 years of age were identified and systematically evaluated. Six had children; four carried pregnancies and delivered, one used assisted reproductive technology and had a surrogate carry the pregnancy, and one adopted. We report the outcomes of four pregnancies with live birth deliveries and two women who chose alternate family building options. Patient one was diagnosed at 6 months, and at age 21 had a pregnancy complicated by transient worsening of renal function (creatinine increase from 1.15 to 1.78 mg/dL). Patient two was diagnosed with ARPKD at age seven and had an uncomplicated pregnancy at age 23. Patient three was diagnosed incidentally with ARPKD at age 23, 3 months after completion of an uncomplicated pregnancy. Patient four who had an uncomplicated pregnancy at age 33 was diagnosed with ARPKD at age 46. Women with ARPKD face reproductive decisions largely bereft of information about the pregnancies of other ARPKD patients. We report four cases of pregnancy and ARPKD to expand current knowledge and encourage further research.
Yamasoba, Tatsuya; Kikuchi, Shigeru; Takeuchi, Naonobu; Harada, Takehiko; Nomura, Yasuya
The structures of the anterior epitympanic recess and its surrounding tissues were examined among non-inflammatory ear, chronic otitis media with central perforation and cholesteatoma, using axial scans of high resolution computed tomography. The length and width of the recess, as well as the number of the slices where the cog was determined, had no significant differences among them. Thus, the bony structure of the recess was considered to be seldom influenced by inflammatory processes. In the non-inflammatory ear, the degree of pneumatization around the recess was similar to that of the petrous apex cells and lower than that of the mastoid cells. In the chronic otitis media with central perforation and cholesteatoma, the pneumatization of the whole temporal bones was suppressed and the tendency was also found that the cells around the recess were less pneumatized than the mastoid cells. When cholesteatoma invaded into the anterior epitympanic recess, the destruction of the bony protrusion of the lateral wall between the recess and the epitympanum was recognized, as well as the disappearance of the cog. The bony protrusion was considered to be an inferior extention of the cog toward the anterior tympanic spine. (author)
Miller, Gregory E; Chen, Edith; Yu, Tianyi; Brody, Gene H
Some of the country's highest rates of morbidity and mortality from cardiovascular disease are found in lower-income black communities in the rural Southeast. Research suggests these disparities originate in the early decades of life, and partly reflect the influence of broader socioeconomic forces acting on behavioral and biological processes that accelerate cardiovascular disease progression. However, this hypothesis has not been tested explicitly. Here, we examine metabolic syndrome (MetS) in rural black young adults as a function of their family's economic conditions before and after the Great Recession. In an ongoing prospective study, we followed 328 black youth from rural Georgia, who were 16 to 17 years old when the Great Recession began. When youth were 25, we assessed MetS prevalence using the International Diabetes Federation's guidelines. The sample's overall MetS prevalence was 18.6%, but rates varied depending on family economic trajectory from before to after the Great Recession. MetS prevalence was lowest (10.4%) among youth whose families maintained stable low-income conditions across the Recession. It was intermediate (21.8%) among downwardly mobile youth (ie, those whose families were lower income before the Recession, but slipped into poverty). The highest MetS rates (27.5%) were among youth whose families began the Recession in poverty, and sank into more meager conditions afterwards. The same patterns were observed with 3 alternative MetS definitions. These patterns suggest that broader economic forces shape cardiometabolic risk in young blacks, and may exacerbate disparities already present in this community. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.
Reuter, Miriam S; Musante, Luciana; Hu, Hao; Diederich, Stefan; Sticht, Heinrich; Ekici, Arif B; Uebe, Steffen; Wienker, Thomas F; Bartsch, Oliver; Zechner, Ulrich; Oppitz, Cornelia; Keleman, Krystyna; Jamra, Rami Abou; Najmabadi, Hossein; Schweiger, Susann; Reis, André; Kahrizi, Kimia
NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in the clinical features, including both demonstrated and apparent intellectual disability, muscular hypotonia, epilepsy, and postnatal growth deficiency. Furthermore, in Drosophila, knockdown of sulfateless, the NDST ortholog, impairs long-term memory, highlighting its function in cognition. Our data confirm NDST1 mutations as a cause of autosomal recessive intellectual disability with a distinctive phenotype, and support an important function of NDST1 in human development. © 2014 Wiley Periodicals, Inc.
Currie, Janet; Duque, Valentina; Garfinkel, Irwin
We use longitudinal data from the Fragile Families and Child Well-being Study to investigate the impacts of the Great Recession on the health of mothers. We focus on a wide range of physical and mental health outcomes, as well as health behaviors. We find that increases in the unemployment rate decrease self-reported health status and increase smoking and drug use. We also find evidence of heterogeneous impacts. Disadvantaged mothers—African-American, Hispanic, less educated, and unmarried–experience greater deterioration in their health than advantaged mothers—those who are white, married, and college educated. PMID:27212714
Lee, Dohoon; Brooks-Gunn, Jeanne; McLanahan, Sara S; Notterman, Daniel; Garfinkel, Irwin
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.
Full Text Available Objective: The aim of this study was to investigate the genetic causes of autosomal recessive intellectual disabilities (AR-ID in Hamadan province of Iran. Materials & Methods: In this descriptive-analytical cross-sectional study, 25 families with more than one affected with putative autosomal recessive intellectual disability were chosen with collaboration of Welfare Organization of Hamadan province. Families were included a total of 60 patients (39 male and 21 female whose intellectual disability had been confirmed by Raven IQ test. Each family was asked for clinical examination and getting consent form. Blood sample was collected from each family. One proband from each family was tested for CGG repeat expansion in FMR1 gene, chromosomal abnormalities and inborn errors of metabolism. We also performed homozygosity mapping based on STR markers for seven known MCPH loci in families with primary microcephaly and AR-ID. Results: Five families had full mutation of Fragile X syndrome. No chromosomal abnormalities were identified. Metabolic screening revealed one family with Medium Chain Acyl CoA Dehydrogenase deficiency. None of three families with primary microcephaly and AR-ID showed linkage to any of known seven MCPH loci. Conclusion: The main causes of ID in Hamadan province were Fragile X syndrome and Autosomal Recessive Primary Microcephaly with the frequencies of 20% and 12%, respectively.
Hospital capital investment is important for acquiring and maintaining technology and equipment needed to provide health care. Reduction in capital investment by a hospital has negative implications for patient outcomes. Most hospitals rely on debt and internal cash flow to fund capital investment. The great recession may have made it difficult for hospitals to borrow, thus reducing their capital investment. I investigated the impact of the great recession on capital investment made by California hospitals. Modeling how hospital capital investment may have been liquidity constrained during the recession is a novel contribution to the literature. I estimated the model with California Office of Statewide Health Planning and Development data and system generalized method of moments. Findings suggest that not-for-profit and public hospitals were liquidity constrained during the recession. Comparing the changes in hospital capital investment between 2006 and 2009 showed that hospitals used cash flow to increase capital investment by $2.45 million, other things equal.
Full Text Available Anhidrotic ectodermal dysplasia with classical features in 2 sisters is reported. The mode of inheritance in these seems to be autosomal recessive; which is a very rare occurrence.
Anat Bracha; Julian Jamison
Confidence in homeownership shifts for those who personally experienced real estate loss during the Great Recession. Older Americans are confident in the value of homeownership. Younger Americans are less confident.
Engsted, Tom; Møller, Stig Vinther; Jensen, Magnus David Sander
We document that over the period 1953-2011 US bond returns are predictable in expansionary periods but unpredictable during recessions. This result holds in both in-sample and out-of-sample analyses and using both univariate regressions and combination forecasting techniques. A simulation study...... but negative in recessions. The results are also consistent with tests showing that the expectations hypothesis of the term structure holds in recessions but not in expansions. However, the results for bonds are in sharp contrast to results for stocks showing that stock returns are predictable in recessions...... but not in expansions. Thus, our results indicate that there is not a common predictive pattern of stock and bond returns associated with the state of the economy....
During a recession, cost-sharing of employer-sponsored health benefits could increase to reduce labor costs in the U.S. Using a variation in the severity of recession shocks across industries, I find evidence that the enrollment rate of high deductible health plans (HDHPs) among workers covered by employer-sponsored health benefits increased more among firms in industries that experienced severe recession shocks. As potential mechanisms, I study employer-side and worker-side mechanisms. I find that employers changed health benefit offerings to force or incentivize workers to enroll in HDHPs. But I find little evidence of an increase in workers' demand for HDHPs due to a reduction in income. These results suggest that the HDHP enrollment rate increased during the Great Recession, as employers tried to save costs of offering health benefits. Copyright © 2018 Elsevier B.V. All rights reserved.
Boria, F; Maseda, R; Martín-Cameán, M; De la Calle, M; de Lucas, R
Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen, which leads to marked fragility of the skin and mucous membranes and subsequent blister formation, whether spontaneously or following minimal injury. There have been very few reports of this disease in pregnant women. We present 2 cases of pregnant women with recessive dystrophic epidermolysis bullosa managed in our High-Risk Pregnancy Unit at Hospital Universitario La Paz, Madrid, Spain. Both patients underwent full-term cesarean delivery, with no further complications for mother or child. Although recessive dystrophic epidermolysis bullosa increases the risk of maternal complications, a patient is not advised against pregnancy. With adequate monitoring, these patients can fulfil their desire to become mothers. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.
Hospital capital investment is important for acquiring and maintaining technology and equipment needed to provide health care. Reduction in capital investment by a hospital has negative implications for patient outcomes. Most hospitals rely on debt and internal cash flow to fund capital investment. The great recession may have made it difficult for hospitals to borrow, thus reducing their capital investment. I investigated the impact of the great recession on capital investment made by California hospitals. Modeling how hospital capital investment may have been liquidity constrained during the recession is a novel contribution to the literature. I estimated the model with California Office of Statewide Health Planning and Development data and system generalized method of moments. Findings suggest that not-for-profit and public hospitals were liquidity constrained during the recession. Comparing the changes in hospital capital investment between 2006 and 2009 showed that hospitals used cash flow to increase capital investment by $2.45 million, other things equal. PMID:28617202
The Great Recession had a large negative impact on the U.S. economy. Asset prices, most notably stock and house prices, declined substantially, resulting in a loss in wealth for many American households. In this article, Makoto Nakajima documents how diverse households were affected in a variety of dimensions during the Great Recession, in particular between 2007 and 2009, using newly available data from the 2007-2009 Survey of Consumer Finances. He discusses why it is important to look at th...
Adamopoulou, Effrosyni; Tanzi, Giulia M.
In this paper we study how the Great Recession affected university students in terms of performance, with a special focus on the dropout probability. To do so, we use individual-level data on a representative sample of university students in Italy in 2007 and 2011. We measure the severity of the recession in terms of increases in adult and youth unemployment rate and we exploit geographical variation to achieve identification. On the one hand, an increase in adult male unemployment rate deter...
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.
Thomas, Kevin J A; Tucker, Catherine
Although the consequences of the Great Recession are extensively discussed in previous research, three critical issue need to be addressed in order to develop a full portrait of the economic experiences of children during this period. First, given the changing immigrant composition of the US child population, new studies are needed for examining the implications of immigrant status for exposure to child poverty during the recession. Second, it is important to understand how traditional patterns of racial inequality among were transformed during the years of the recession. Finally, it is not clear whether recession-related changes in socioeconomic inequalities continued to have implications for child well-being in the post-recession period. Results from this analysis indicate that the adverse effects of the recession were most intense in states with significant changes in their populations of Black and Latino immigrant children. The results further show that declines in parental work opportunities were more consequential for poverty among Whites and Asians. The analysis also finds differential implications of family contexts for child poverty among Black immigrant and natives during the recession. Finally, the results indicate that increases in racial child poverty disparities during the recession did not disappear in the years following the downturn.
Full Text Available This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases.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.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.Here, we report two novel missense mutations, p.R11C and p.R12C, in CRYAB associated with autosomal recessive congenital nuclear cataracts.
The purpose of this study is to describe recessive alleles in strictly dominant genes. Identifying recessive mutations in genes for which only dominant disease or risk alleles have been reported can expand our understanding of the medical relevance of these genes both phenotypically and mechanistically. The Saudi population is enriched for autozygosity, which enhances the homozygous occurrence of alleles, including pathogenic alleles in genes that have been associated only with a dominant inheritance pattern.Exome sequencing of patients from consanguineous families with likely recessive phenotypes was performed. In one family, the genotype of the deceased children was inferred from their parents due to lack of available samples.We describe the identification of 11 recessive variants (5 of which are reported here for the first time) in 11 genes for which only dominant disease or risk alleles have been reported. The observed phenotypes for these recessive variants were novel (e.g., FBN2-related myopathy and CSF1R-related brain malformation and osteopetrosis), typical (e.g., ACTG2-related visceral myopathy), or an apparently healthy state (e.g., PDE11A), consistent with the corresponding mouse knockout phenotypes.Our results show that, in the era of genomic sequencing and
Schneider, William; Waldfogel, Jane; Brooks-Gunn, Jeanne
This article examines associations between the Great Recession and 4 aspects of 9-year olds' behavior--aggression (externalizing), anxiety/depression (internalizing), alcohol and drug use, and vandalism-using the Fragile Families and Child Wellbeing Study, a longitudinal birth cohort drawn from 20 U.S. cities (21% White, 50% Black, 26% Hispanic,…
Avrahami, L.; Maas, S.; Pasmanik-Chor, M.; Rainshtein, L.; Magal, N.; Smitt, J. H. S.; van Marle, J.; Shohat, M.; Basel-Vanagaite, L.
Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease
NOGER, C.; PATRAT, J. C.; PEUBE, J.; PEUBE, J. L.
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.
Full Text Available The reality in all organization is that the directors and board are in the position of highest influence and their primary responsibility is leadership. As such, considering the consequences of a recession such as we currently face is not the time for directors to abdicate their responsibilities – it is time for governance leadership. The directors and the board must think and respond strategically. The article shows a matrix for positioning the general manager in recession that is similarly with BCG matrix and in the final a table with a set of essential questions for helping the board in new strategies building.
Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M. [Univ. of the Negev, Ashkelon (Israel)
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.
Singh, Ajay; Patwardhan, Anand
All currently available climate models predict a near-surface warming trend under the influence of rising levels of greenhouse gases in the atmosphere. In addition to the direct effects on climate — for example, on the frequency of heat waves — this increase in surface temperatures has important consequences for the cryosphere subsequently hydrological cycle, particularly in regions where water supply is currently dominated by melting snow or ice. The Indian Himalayan region occupies a special place in the mountain ecosystems of the world. These geodynamically young mountains are not only important from the standpoint of climate and as a provider of life, giving water to a large part of the Indian subcontinent, but they also harbor a rich variety of flora, fauna, human communities and cultural diversity. Glaciers in this region are changing in area as well as in volume like those in other parts of the world. Studies have been carried out for recession in some of these glaciers using remote sensing as well as field observation techniques. Spatiotemporal pattern in the recession rate of the studied glaciers has been presented in this paper. Plausible causes for the recession have been also discussed. Finally, future scopes for observation and analysis in glaciers recession have been suggested.
Verstegen, Deborah A.
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…
Hobijn, B.; Elsby, M.W.L.; Sahin, A.
From the perspective of a wide range of labor market outcomes, the recession that began in 2007 represents the deepest downturn in the postwar era. Early on, the nature of labor market adjustment displayed a notable resemblance to that observed in past severe downturns. During the latter half of
Lucian Marius IVANOV
Global recession brought about a significant growth in competition, stressing the need for relevant and reliable intelligence as a support for making efficient strategic decisions. The recent circumstances draw the attention far more earnestly this time on the need for an intelligence structure within companies to be ready for sustaining business management endeavours in line with increasing competitiveness, protection and promotion of their interests.
Lucas, Matthew D.
During recess, the participation of a student with visual impairments in terms of movement can often be both challenging and rewarding for the student and general education teacher. This paper will address common characteristics of students with visual impairments and present basic solutions to improve the participation of these students in the…
Abstract: Background:Epidermolysis bullosa simplex (EBS) is characterized by intraepidermal blister formation, most commonly appearing in early infancy. Many variants of EBS exist; the four most common variants are inherited in an autosomal dominant fashion. The recessive forms are rare and less reported in our ...
Molund, Marius; Paulsrud, Øyvind; Ellingsen Husebye, Elisabeth; Nilsen, Fredrik; Hvaal, Kjetil
Very few studies describe the clinical results and complications following the surgical procedure of gastrocnemius recession. To survey the patient reported outcomes in patients operated with gastrocnemius recession as single procedure for various foot conditions. 93 patients operated with gastrocnemius recession as single procedure between 2006 and 2011 were detected in the database. 73 patients responded to the invitation for study participation. Questionnaires containing patient reported satisfaction, complications, plantar flexion power and visual analog pain score were used for evaluation of the postoperative result. 45/73 (62%) patients reported a good or excellent result. 8/73 (11%) patients reported a significant postoperative complication. 16/73 (22%) patients noted reduced or severely reduced plantar flexion power after surgery. VAS pain score significantly decreased from 7.0 before surgery to 1.8 (p=0.015) after surgery for patients with plantar fasciitis (n=18) and from 5.6 to 2.3 (p<0.01) for patients with metatarsalgia (n=28). Patients treated with gastrocnemius recession for plantar fasciitis demonstrated good clinical results. The complication rate was higher than reported by others. Copyright © 2014 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.
Rafael Fabiano Machado Rosa
Full Text Available CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.CASE REPORT: Our patient was a seven-year-old white boy who was initially diagnosed with congenital toxoplasmosis. However, his serological tests for congenital infections, including toxoplasmosis, were negative. He was the first child of young, healthy and consanguineous parents (fourth-degree relatives. The parents had normal head circumferences and intelligence. The patient presented microcephaly and specific abnormalities of the retina, with multiple diffuse oval areas of pigmentation and patches of chorioretinal atrophy associated with diffuse pigmentation of the fundus. Ophthalmological evaluations on the parents were normal. A computed tomography scan of the child's head showed slight dilation of lateral ventricles and basal cisterns without evidence of calcifications. We did not find any lymphedema in his hands and feet. He had postnatal growth retardation, severe mental retardation and cerebral palsy.CONCLUSIONS: The finding of chorioretinal lesions in a child with microcephaly should raise suspicions of the autosomal recessive form of microcephaly-chorioretinopathy syndrome, especially in cases with an atypical pattern of eye fundus and consanguinity. A specific diagnosis is essential for an appropriate clinical evaluation and for genetic counseling for the patients and their families.
College of Agricultural Engineering & Post Harvest Technology (CAEPHT),. Central Agricultural ... during the recession period is the key to its proper management. The spring .... In equation (1), Q is the recession flow, t is time, and a, b are ...
Lu, Bin; Sun, Min; Palacios, Tomas Apostol
A semiconductor structure has a first layer that includes a first semiconductor material and a second layer that includes a second semiconductor material. The first semiconductor material is selectively etchable over the second semiconductor material using a first etching process. The first layer is disposed over the second layer. A recess is disposed at least in the first layer. Also described is a method of forming a semiconductor structure that includes a recess. The method includes etching a region in a first layer using a first etching process. The first layer includes a first semiconductor material. The first etching process stops at a second layer beneath the first layer. The second layer includes a second semiconductor material.
Full Text Available The objective of the article was to present possible applications of recession flow curve in a small lowland watershed retention discharge size evaluation. The examined woodland micro catchment area of 0.52 sq km is located in Puszcza Zielonka in central Wielkopolska. The Hutka catchment is typically woody with high retention abilities. The catchment of the Hutka watercourse is forested in 89%, the other 11% is covered by swamps and wasteland. The predominant sites are fresh mixed coniferous forest (BMśw, fresh coniferous forest (Bśw and alder carr forest (Ol. Landscape in catchment is characterized by a large number of interior depressions, filled partly with rainwater or peatbogs, with poorly developed natural drainage. The watercourses do not exceed 1 km in length, the mean width is approx. 0.5 m, while mean depth ranges from 0.2 to 0.3 m. During hydrological research conducted in 1997/1998–1999/2000, 35 major (characteristic raised water stages were observed in Hutka after substantial precipitation. The recession curve dating from 18–24 September 2000 has the α and n rates nearest to average. Comparing the model curve and the curve created by observing watercourse flow, one can notice their resemblance and that they have similar ordinate values as well as shape. In the case of other recession curves, the maximum differences of ordinate values are also about 0.1–0.2 l/s/km2. The measuured α and n rates do not reveal any regularities. There are no significant statistical Horton model parameter (for recession flow curves dependencies between α and n and e.g. initial flows (Qo or the whole period of high water waves (Qp. Consequently, calculated relation between these parameters is only an approximation for the general evaluation of the retention discharge in the catchment area towards retention with flow function.
Gkanoutas-Leventis, Angelos; Nesvetailova, Anastasia
This article addresses the role of world oil price hike of 2007–08 in serving to transform the financial and banking crisis into what is commonly referred to the Great Recession. Existing literature on the global crisis of 2007–09 tends to view it as a financial or banking phenomenon, with analyses focusing mainly on state policies, governance mechanisms and market dynamics in transforming the banking crisis of 2007–08 into the economic recession of 2008-12/13 Although often attributing the global meltdown to wider phenomenon of financialisation, rarely do existing perspectives delve into the role of the commodity sector in the global credit crunch. In this paper, we aim to fill this gap, by inquiring into the role played by oil as a financial asset class in the political economy of the global crisis. - Highlights: • We study the oil price and its effects on the Great Recession. • We approach oil as a financial asset class. • We observe the transformation of oil through deregulation.
Volodarsky, Michael; Zilberman, Uri; Birk, Ohad S
To relate the peculiar phenotype of amelogenesis imperfecta in a large Bedouin family to the genotype determined by whole genome linkage analysis. Amelogenesis imperfecta (AI) is a broad group of inherited pathologies affecting enamel formation, characterized by variability in phenotypes, causing mutations and modes of inheritance. Autosomal recessive or compound heterozygous mutations in FAM20A, encoding sequence similarity 20, member A, have been shown to cause several AI phenotypes. Five members from a large consanguineous Bedouin family presented with hypoplastic amelogenesis imperfecta with unerupted and resorbed permanent molars. Following Soroka Medical Center IRB approval and informed consent, blood samples were obtained from six affected offspring, five obligatory carriers and two unaffected siblings. Whole genome linkage analysis was performed followed by Sanger sequencing of FAM20A. The sequencing unravelled a novel homozygous deletion mutation in exon 11 (c.1523delC), predicted to insert a premature stop codon (p.Thr508Lysfs*6). We provide an interesting case of novel mutation in this rare disorder, in which the affected kindred is unique in the large number of family members sharing a similar phenotype. Copyright © 2015 Elsevier Ltd. All rights reserved.
Reinhard, Erica; Layte, Richard; McCrory, Cathal; Panico, Lidia; Avendano, Mauricio
Economic recessions have been linked to adult health, but few studies have examined how recessions influence the health of young children. This study examines the impact of life transitions linked to the financial crisis in Ireland on the health of young children. Data came from the Growing Up in Ireland Infant Cohort Study (n = 11,134), which assessed children before (2008), during (2011), and after (2013) the recession and incorporated questions on the impacts of the financial crisis on families. Using fixed effects models to control for confounding, we found that a reduction in welfare benefits during the recession was associated with a significant increase in the risk of asthma (β = 0.0136, 95% confidence interval (95% CI): 0.0062, 0.0328) and atopy (β = 0.0161, 95% CI: 0.0026, 0.0297). While parental job loss was not associated with child health, a reduction in working hours was associated with increased reports of fair or poor child health (β = 0.0235, 95% CI: 0.0041, 0.0429), as were difficulties affording basics (β = 0.0193, 95% CI: 0.0005, 0.0381). Results suggest that failing to protect vulnerable families and children during economic recessions may have long-lasting implications for child health. © The Author(s) 2018. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: firstname.lastname@example.org.
De Vos, Michel; Hayward, Bruce E.; Picton, Susan; Sheridan, Eamonn; Bonthron, David T.
We investigated a family with an autosomal recessive syndrome of café-au-lait patches and childhood malignancy, notably supratentorial primitive neuroectodermal tumor. There was no cancer predisposition in heterozygotes; nor was there bowel cancer in any individual. However, autozygosity mapping indicated linkage to a region of 7p22 surrounding the PMS2 mismatch-repair gene. Sequencing of genomic PCR products initially failed to identify a PMS2 mutation. Genome searches then revealed a previo...
Rostol'tsev, K V; Burenkov, R A; Kuz'micheva, I A
Clinico-anatomic observation of autosomal-recessive renal cystic disease and congenital hepatic fibrosis at two fetuses from the same family was done. Mutation of His3124Tyr in 58 exon of PKHD1 gene in heterozygous state was found out. The same pathomorphological changes in the epithelium of cystic renal tubules and bile ducts of the liver were noted. We suggest that the autopsy research of fetuses with congenital abnormalities, detected after prenatal ultrasonic screening, has high diagnostic importance.
Iqbal, Zafar; P?ttmann, Lucia; Musante, Luciana; Razzaq, Attia; Zahoor, Muhammad Yasir; Hu, Hao; Wienker, Thomas F; Garshasbi, Masoud; Fattahi, Zohreh; Gilissen, Christian; Vissers, Lisenka ELM; de Brouwer, Arjan PM; Veltman, Joris A; Pfundt, Rolph; Najmabadi, Hossein
AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins, which catalyze the ligation of amino acids to their cognate tRNA isoacceptors for use in protein translation. To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative disorder. Here, we present two consanguineous families from Pakistan and Iran, presenti...
Larti, Farzaneh; Kahrizi, Kimia; Musante, Luciana; Hu, Hao; Papari, Elahe; Fattahi, Zohreh; Bazazzadegan, Niloofar; Liu, Zhe; Banan, Mehdi; Garshasbi, Masoud; Wienker, Thomas F; Hilger Ropers, H; Galjart, Niels; Najmabadi, Hossein
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 ...
Norström, Thor; Grönqvist, Hans
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. 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. 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. 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. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
Espinós, Carmen; Calpena, Eduardo; Martínez-Rubio, Dolores; Lupo, Vincenzo
Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy that comprises a complex group of more than 50 diseases, is the most common inherited neuropathy. CMT is generally divided into demyelinating forms, axonal forms and intermediate forms. CMT is also characterized by a wide genetic heterogeneity with 29 genes and more than 30 loci involved. The most common pattern of inheritance is autosomal dominant (AD), although autosomal recessive (AR) forms are more frequent in Mediterranean countries. In this chapter we give an overview of the associated genes, mechanisms and epidemiology of AR-CMT forms and their associated phenotypes.
McArdle, F B
Legislation drafted in Switzerland in 1975--77 aims at countering the effects of inflation and recession by bringing increased revenues into the system, reducing expenditures, devising a mechanism to adjust pensions automatically, and improving income maintenance for the unemployed. The proposed legislation to place the social security system on a sound financial basis now needs voter approval in a referendum. Swiss voters meanwhile rejected (in mid-1977) a government-proposed value-added tax designed to finance increasing government contributions during 1978-82. Still to be resolved, therefore, is the problem of how the government will finance higher contributions and still achieve its staged goal of a balanced budget.
Pawlowski, Charlotte Skau; Andersen, Henriette Bondo; Troelsen, Jens
participated in go-along group interviews, and recess behavior was observed using an ethnographical participant observation approach. All data were analyzed separated systematically answering the Five W Questions. Children were categorized into Low, Middle and High physical activity groups and these groups...... quantitative GPS and accelerometer measurements with qualitative go-along group interviews and participant observations. Data were collected during three weekdays in a public school in Denmark. Eighty-one children (47 girls) wore an accelerometer (ActiGraph GT3X) and GPS (QStarz BT-Q1000xt), sixteen children...
Hellemans, J; Coucke, PJ; Giedion, A; De Paepe, A; Kramer, P; Beemer, F; Mortier, GR
Acrocapitofemoral dysplasia is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by short stature with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips. Genome-wide homozygosity mapping in two consanguineous families linked the
Ansar, Muhammad; Ramzan, Mohammad; Pham, Thanh L.; Yan, Kai; Jamal, Syed Muhammad; Haque, Sayedul; Ahmad, Wasim; Leal, Suzanne M.
For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26–q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26–q27 (Multipoint lod...
James Alm; David L. Sjoquist
The "Great Recession" lasted from December 2007 to June 2009, and it wreaked havoc on the revenues of state (and local) governments. While the U.S. economy has improved since the end of the Great Recession, state government revenues have in most cases still not completely recovered. We use various indicators to measure how different states have -- or have not -- recovered in the aftermath of the Great Recession, and we also attempt to explain why these different patterns of recovery have emer...
Full Text Available Azygoesophageal recess (AER is right posterior mediastinal recess . Knowledge of normal radiologic appearance and manifestations of disease in AER can facilitate the detection and diagnosis of many intrathoracic diseases ranging from infective processes to tumors involving mediastinum, lung/pleura, lymphatic system, upper gastrointestinal system (esophagus & stomach & cardio - vascular system. Aim of this study was to investigate various intrathoracic pathologies, altering the configuration of AER on CT in adults & to find out any significance with various disease processes. This study was carried out in CT center, Department of Radiodiagnosis, Krishna Institute of medical sciences, Karad from October 2012 - September 2014. CT thorax of 156 patients was studied for configuration of AER irrespective of pathology. In this study , configuration of AER was altered in descending order with pathologies belonging to following systems: Respiratory system (Lung parenchyma pathologies causing volume loss of right lower lobe particularly Koch’s , UIP , Malignancy , Pleural pathologies (Secondary more common than Primary >Lymphatic system(secondary subcarinal lymph node more common than Primary Lymphoma >Cardio - vascular system(Cardiomegaly particularly Left atrial enlargement >Gastrointestinal system ( hiatus herni a & esophageal Cancer > Mediastinum ( Koch’s of dorsal spine with paraspinal abscess.
Haagerup, Annette; Christensen, Mogens Fjord; Hertz, Jens Michael
Eight patients with pycnodysostosis from six Danish families were examined for mutations in the cathepsin K gene. Three different mutations are the cause of pycnodysostosis in the six families--five of whom come from Ringkøbing County and one from Vejle County. One mutation has a high frequency i...
Haagerup, Annette; Christensen, Mogens Fjord; Hertz, Jens Michael
Eight patients with pycnodysostosis from six Danish families were examined for mutations in the cathepsin K gene. Three different mutations are the cause of pycnodysostosis in the six families--five of whom come from Ringkøbing County and one from Vejle County. One mutation has a high frequency i...
Marianne Bitler; Hilary Hoynes; Elira Kuka
In the midst of the Great Recession, median real household income fell from $61,597 in 2007 to $57,025 in 2010 and $51,007 in 2012. Given that the effects of the Great Recession on unemployment were greater for less skilled workers the authors expect the effects of the Great Recession on household incomes to be larger in relative terms for individuals in the lower end of the income distribution. To explore this issue, in this paper, they comprehensively examine the effects of the Great Recess...
Full Text Available AIM: Literature is replete with studies on gingival recession, the apical shift of the gingival margin from the cemento-enamel junction. Chronic periodontitis and frequent toothbrushing are among its aetiological factors. Many of these were however prevalence studies. The current study was therefore aimed at separating prognostic indicators from determinants of the number of recessions. METHOD: 650 consecutive adult patients visiting a Nigerian teaching hospital were examined using a checklist including plaque, calculus, Millers class of recession and other parameters.. A total of 408 recession sites were identified. RESULTS: The mean age of the patients with recession was 42.3 years; mean number of recession was 4.74 Incisors had the highest number of recessions (35.7%. While a factor such as age was related both to the number and prognosis of recession sites, abrasion and plaque were only related to prognosis. Again, some of the factors previously significantly related to prognosis on univariate analysis like calculus and smoking, lost their significance on regression analysis. CONCLUSION: The three strongest predictors of prognosis (Millers class of recession were age, plaque and abrasion. [TAF Prev Med Bull 2010; 9(3.000: 187-194
Goutoudi, P; Koidis, P T; Konstantinidis, A
In this cross-sectional study, risk and potentially causative factors of gingival recession were examined and their relationship to apical migration of the gingival margin evaluated. Thirty eight patients (18-60 years), displaying one or more sites with gingival recession but without any significant periodontal disease participated. A total of 28 parameters were evaluated in both 'test' teeth (50 teeth with gingival recession) and 'control' teeth (50 contralateral teeth). The results revealed that gingival margin recession was associated with both high inflammatory and plaque scores, with decreased widths of keratinized and attached gingiva and with the subjects' toothbrush bristle hardness.
Aguilar-Palacio, I; Carrera-Lasfuentes, P; Sánchez-Recio, R; Alonso, J P; Rabanaque, M J
Employment status and economic recession have been associated with negative effects on self-rated health, and this effect differs by gender. We analysed the effects of the Spanish economic recession in terms of self-rated health, its differential effect among genders and its influence on gender gap. Repeated cross-sectional study using Spanish health surveys (2001-2014). Logistic regression models were conducted to explore the association between self-rated health and employment status and its evolution over time and gender. To test the impact of the economic recession, pooled data regression models were conducted. In this study, we considered 104,577 subjects. During the last 15 years, women have entered the labour market, leading to wide changes in the Spanish traditional family roles. Instead of an increasing proportion of women workers, gender employment differences persist. Therefore, in 2014, the prevalence of workers was 55.77% in men, whereas in women, it was 44.01%. Self-rated health trends during the economic recession differ by gender, with women improving slightly their self-rated health from a low self-rated health prevalence of 38.76% in 2001 to 33.78% in 2014. On the contrary, men seem more vulnerable to employment circumstances, which have led to substantial reduction in the gender gap. Although a gender gap persists, the change in socio-economic roles seems to increase women's self-rated health, reducing this gap. It is important to promote women's labour market inclusion, even in economic recession periods. Copyright © 2017 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved.
Darr, A; Small, N; Ahmad, W I U; Atkin, K; Corry, P; Modell, B
Currently, there is no consensus regarding services required to help families with consanguineous marriages manage their increased genetic reproductive risk. Genetic services for communities with a preference for consanguineous marriage in the UK remain patchy, often poor. Receiving two disparate explanations of the cause of recessive disorders (cousin marriage and recessive inheritance) leads to confusion among families. Further, the realisation that couples in non-consanguineous relationships have affected children leads to mistrust of professional advice. British Pakistani families at-risk for recessive disorders lack an understanding of recessive disorders and their inheritance. Such an understanding is empowering and can be shared within the extended family to enable informed choice. In a three-site qualitative study of British Pakistanis, we explored family and health professional perspectives on recessively inherited conditions. Our findings suggest, firstly, that family networks hold strong potential for cascading genetic information, making the adoption of a family-centred approach an efficient strategy for this community. However, this is dependent on provision of high-quality and timely information from health care providers. Secondly, families' experience was of ill-coordinated and time-starved services, with few having access to specialist provision from Regional Genetics Services; these perspectives were consistent with health professionals' views of services. Thirdly, we confirm previous findings that genetic information is difficult to communicate and comprehend, further complicated by the need to communicate the relationship between cousin marriage and recessive disorders. A communication tool we developed and piloted is described and offered as a useful resource for communicating complex genetic information.
E. L. Dadali
Full Text Available Introduction. Hereditary motor and sensory neuropathies are genetically heterogeneous group of disorders characterized by a progressive muscle weakness, atrophy of hand and leg muscles often associated with deformations, and mild to moderate sensory loss. Axonal neuropathy with neuromyotonia (AR-ANM is one of the rarest autosomal recessive hereditary neuropathies. Materials and methods. Six (6 patients (4 men, 2 women aged 14–40 years from unrelated families with suspicion of HMSN were examined clinically, neurophysiologically and using DNA analysis. Results. Neurophysiological examination revealed motor and sensory neuropathy with neuromyotonia signs in all patients. In all cases homozygous variant of recessive mutations с.110G/C (р.Arg37Pro in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1 has been revealed. Conclusion. There is the first description of the clinical and neurophysiological features of six patients with AR-ANM in Russia.
Pruchno, Rachel; Heid, Allison R; Wilson-Genderson, Maureen
Historical events and personal experiences have the potential to alter the way people age. Using a life-course model, we examined how the Economic Recession of 2008 and experienced life events affected the mental health of 3,393 older adults in New Jersey. Data collected between 2006 and 2012 revealed a significant increase in mean depressive symptoms. Multinomial logistic regression analyses indicated that people with incident depression were more likely to have lost a job, become a caregiver, experienced a major illness, or have a family member with a major illness than people with no depression. Compared with the incident depression group, those with remitted depression were less likely to report having lost a job or experienced a major illness. Modeling the effects of individual life events and the economic recession on depression enriches understanding about the association between macro socioeconomic events, life events, and the mental health of older adults.
Hamza, Wahiba; Ali Pacha, Lamia; Hamadouche, Tarik; Muller, Jean; Drouot, Nathalie; Ferrat, Farida; Makri, Samira; Chaouch, Malika; Tazir, Meriem; Koenig, Michel; Benhassine, Traki
Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with great genetic and phenotypic heterogeneity, over 30 genes/loci have been associated with more than 20 different clinical forms of ARCA. Genetic heterogeneity combined with highly variable clinical expression of the cerebellar symptoms and overlapping features complicate furthermore the etiological diagnosis of ARCA. The determination of the most frequent mutations and corresponding ataxias, as well as particular features specific to a population, are mandatory to facilitate and speed up the diagnosis process, especially when an appropriate treatment is available. We explored 166 patients (115 families) refered to the neurology units of Algiers central hospitals (Algeria) with a cerebellar ataxia phenotype segregating as an autosomal recessive pattern of inheritance. Genomic DNA was extracted from peripheral blood samples and mutational screening was performed by PCR and direct sequencing or by targeted genomic capture and massive parallel sequencing of 57 genes associated with inherited cerebellar ataxia phenotypes. In this work we report the clinical and molecular results obtained on a large cohort of Algerian patients (110 patients/76 families) with genetically determined autosomal recessive ataxia, representing 9 different types of ARCA and 23 different mutations, including 6 novel ones. The five most common ARCA in this cohort were Friedreich ataxia, ataxia with isolated vitamin E deficiency, ataxia with oculomotor apraxia type 2, autosomal recessive spastic ataxia of Charlevoix-Saguenay and ataxia with oculomotor apraxia type 1. We report here a large cohort of patients with genetically determined autosomal recessive ataxia and the first study of the genetic context of ARCA in Algeria. This study showed that in Algerian patients, the two most common types of ataxia (Friedreich ataxia and ataxia with isolated vitamin E deficiency) coexist with forms that may be
Szinovacz, Maximiliane E; Davey, Adam; Martin, Lauren
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. © The Author(s) 2014.
Cervený, J.; van Ours, J.C.
Abstract: This paper examines whether unemployment of non-western immigrant workers in the Netherlands was disproportionally affected by the Great Recession. We analyze unemployment data covering the period November 2007 to February 2013 finding that the Great Recession affected unemployment rates
Hoynes, Hilary W.; Miller, Douglas L.; Schaller, Jessamyn
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…
Park, Heejung; Twenge, Jean M; Greenfield, Patricia M
The Great Recession's influence on American undergraduate students' values was examined, testing Greenfield's and Kasser's theories concerning value development during economic downturns. Study 1 utilised aggregate-level data to investigate (a) population-level value changes between the pre-recession (2004-2006: n = 824,603) and recession freshman cohort (2008-2010: n = 662,262) and (b) overall associations of population-level values with national economic climates over long-term periods by correlating unemployment rates and concurrent aggregate-level values across 1966-2015 (n = 10 million). Study 2 examined individual-level longitudinal value development from freshman to senior year, and whether the developmental trajectories differed between those who completed undergraduate education before the Great Recession (freshmen in 2002, n = 12,792) versus those who encountered the Great Recession during undergraduate years (freshmen in 2006, n = 13,358). Results suggest American undergraduate students' increased communitarianism (supporting Greenfield) and materialism (supporting Kasser) during the Great Recession. The recession also appears to have slowed university students' development of positive self-views. Results contribute to the limited literature on the Great Recession's influence on young people's values. They also offer theoretical and practical implications, as values of this privileged group of young adults are important shapers of societal values, decisions, and policies. © 2016 International Union of Psychological Science.
Cervený, J.; van Ours, J.C.
This paper examines whether unemployment of non-western immigrant workers in the Netherlands was disproportionally affected by the Great Recession. We analyze unemployment data covering the period November 2007–February 2013 finding that the Great Recession affected unemployment rates of non-western
Lucas, Matthew D.; Justice, Michael J.; Rosko, Kelly M.
The participation of a student with Attention Deficit Hyperactivity Disorder (ADHD) in recess can often be both challenging and rewarding for the student and teacher. This paper will address common characteristics of children with ADHD and present basic solutions to improve the experience of these children in the recess setting. Initially, the…
Lucas, Matthew D.; Devlin, Katharine M.
The participation of a student with Sickle Cell Anemia in recess can often be both challenging and rewarding for the student and teacher. This paper will address common characteristics of students with Sickle Cell Anemia and present basic solutions to improve the experience of these students in the recess setting. Initially the definition,…
in fertility. The primary objective of this PhD projekt was to identify recessive lethal gentic variants in the main Danish dairy cattle breed. Holstein-Friesian utilzing next generation sequencing (NGS) data. This study shows a potential for the use of the NGS-based reverse genetic approach in identifying...... lethal or semi-lethal recessive gentic variation...
Africa and global recessions: Options for reducing vulnerability in future. ... It concludes that traditional or conventional, market-based approaches do not adequately explain the root causes of global recessions and that the dominant counter-cyclical Keynesian-type fiscal and monetary policies that characterised the ...
This paper examines Nigeria's theoretical economic foundation, the consequence of recession generally and specifically on the Gross Domestic Product (GDP) growth rate (2008-2010) and on companies together with customers reaction. Business recovery strategies for an upturn over the economic crisis of recession in ...
Karen Ferreira Gazel Yared
Full Text Available A literatura apresenta vários fatores relacionados na etiologia da recessão periodontal, além do processo inflamatório induzido pelo biofilme bacteriano, os quais incluem fatores externos e anatômicos locais. Por meio deste estudo, revistou-se a literatura sobre tais fatores, cujo conhecimento é de grande importância para o ortodontista, contribuindo durante o diagnóstico, planejamento e tratamento ortodôntico propriamente dito.The literature shows that besides dental plaque, some external and anatomic local factors are still related to gingival recession etiology. This study reviewed the literature about those factors, which knownledge is of great benefit to the orthodontist, contributing during diagnostic, planning and orthodontic treatment.
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
Abstract 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
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
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
Abbaker, Abdelakarim Ibrahim; Dammas, Ali Saeed
Primary familial hemophagocytic lymphohistiocytosis (HLH; or familial erythrophagocytic lymphohistiocytosis [FEL]) is a heterogeneous autosomal recessive disorder more prevalent with parental consanguinity. There is aggressive proliferation of activated macrophages and histiocytes, which phagocytose red blood cells (RBCs), white blood cells (WBCs), and platelets, leading to anemia, neutropenia and thrombocytopenia. The exaggerated response of immune system in familial HLH can occur in the abs...
Margerison-Zilko, Claire; Goldman-Mellor, Sidra; Falconi, April; Downing, Janelle
The severity, sudden onset, and multipronged nature of the Great Recession (2007-2009) provided a unique opportunity to examine the health impacts of macroeconomic downturn. We comprehensively review empirical literature examining the relationship between the Recession and mental and physical health outcomes in developed nations. Overall, studies reported detrimental impacts of the Recession on health, particularly mental health. Macro- and individual-level employment- and housing-related sequelae of the Recession were associated with declining fertility and self-rated health, and increasing morbidity, psychological distress, and suicide, although traffic fatalities and population-level alcohol consumption declined. Health impacts were stronger among men and racial/ethnic minorities. Importantly, strong social safety nets in some European countries appear to have buffered those populations from negative health effects. This literature, however, still faces multiple methodological challenges, and more time may be needed to observe the Recession's full health impact. We conclude with suggestions for future work in this field.
Mohammed F Farid
Faden recession achieves marginal superior control of DND and high AC/A ratio in convergence excess partially accommodative ET. Augmented recession also works well with the possible development of consecutive exotropia in cases with extremely high DND. This study recommends Augmented recession for cases with mild to moderate DND and Faden recession for cases with extremely large DND.
Haw, Camilla; Hawton, Keith; Gunnell, David; Platt, Stephen
A growing body of research evidence from countries around the world indicates that economic recession is associated with increases in suicide, particularly in males of working age. To explore contributory and ameliorating factors associated with economic recession and suicide and thereby stimulate further research in this area and encourage policy makers to consider how best to reduce the impact of recession on mental health and suicidal behaviour. We conducted a selective review of the worldwide literature focusing on possible risk factors, mechanisms and preventative strategies for suicidal behaviour linked to economic recession. A model of how recession might affect suicide rates is presented. A major and often prolonged effect of recession is on unemployment and job insecurity. Other important effects include those exerted by financial loss, bankruptcy and home repossession. It is proposed these factors may lead directly or indirectly to mental health problems such as depression, anxiety and binge drinking and then to suicidal behaviour. Countries with active labour market programmes and sustained welfare spending during recessions have less marked increases in suicide rates than those that cut spending on welfare and job-search initiatives for the unemployed. Other measures likely to help include targeted interventions for unemployed people, membership of social organisations and responsible media reporting. Good primary care and mental health services are needed to cope with increased demand in times of economic recession but some governments have in fact reduced healthcare spending as an austerity measure. The research evidence linking recession, unemployment and suicide is substantial, but the evidence for the other mechanisms we have investigated is much more tentative. We describe the limitations of the existing body of research as well as make suggestions for future research into the effects of economic recession on suicidal behaviour. © The Author
Arno, Gavin; Agrawal, Smriti A; Eblimit, Aiden; Bellingham, James; Xu, Mingchu; Wang, Feng; Chakarova, Christina; Parfitt, David A; Lane, Amelia; Burgoyne, Thomas; Hull, Sarah; Carss, Keren J; Fiorentino, Alessia; Hayes, Matthew J; Munro, Peter M; Nicols, Ralph; Pontikos, Nikolas; Holder, Graham E; Asomugha, Chinwe; Raymond, F Lucy; Moore, Anthony T; Plagnol, Vincent; Michaelides, Michel; Hardcastle, Alison J; Li, Yumei; Cukras, Catherine; Webster, Andrew R; Cheetham, Michael E; Chen, Rui
Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is genetically heterogeneous and the genes identified to date encode proteins involved in a wide range of functional pathways, including photoreceptor development, phototransduction, the retinoid cycle, cilia, and outer segment development. Here we report the identification of biallelic mutations in Receptor Expression Enhancer Protein 6 (REEP6) in seven individuals with autosomal-recessive RP from five unrelated families. REEP6 is a member of the REEP/Yop1 family of proteins that influence the structure of the endoplasmic reticulum but is relatively unstudied. The six variants identified include three frameshift variants, two missense variants, and a genomic rearrangement that disrupts exon 1. Human 3D organoid optic cups were used to investigate REEP6 expression and confirmed the expression of a retina-specific isoform REEP6.1, which is specifically affected by one of the frameshift mutations. Expression of the two missense variants (c.383C>T [p.Pro128Leu] and c.404T>C [p.Leu135Pro]) and the REEP6.1 frameshift mutant in cultured cells suggest that these changes destabilize the protein. Furthermore, CRISPR-Cas9-mediated gene editing was used to produce Reep6 knock-in mice with the p.Leu135Pro RP-associated variant identified in one RP-affected individual. The homozygous knock-in mice mimic the clinical phenotypes of RP, including progressive photoreceptor degeneration and dysfunction of the rod photoreceptors. Therefore, our study implicates REEP6 in retinal homeostasis and highlights a pathway previously uncharacterized in retinal dystrophy. Copyright Â© 2016 The Authors. Published by Elsevier Inc. All rights reserved.
Ullah, Rahim; Ansar, Muhammad; Durrani, Zaka Ullah; Lee, Kwanghyuk; Santos-Cortez, Regie Lyn P.; Muhammad, Dost; Ali, Mahboob; Zia, Muhammad; Ayub, Muhammad; Khan, Suliman; Smith, Josh D.; Nickerson, Deborah A.; Shendure, Jay; Bamshad, Michael; Leal, Suzanne M.; Ahmad, Wasim
Background Ichthyoses are clinically characterized by scaling or hyperkeratosis of the skin or both. It can be an isolated condition limited to the skin or appear secondarily with involvement of other cutaneous or systemic abnormalities. Methods The present study investigated clinical and molecular characterization of three consanguineous families (A, B, C) segregating two different forms of autosomal recessive congenital ichthyosis (ARCI). Linkage in three consanguineous families (A, B, C) segregating two different forms of ARCI was searched by typing microsatellite and single nucleotide polymorphism marker analysis. Sequencing of the two genes TGM1 and ALOXE3 was performed by the dideoxy chain termination method. Results Genome-wide linkage analysis established linkage in family A to TGM1 gene on chromosome 14q11 and in families B and C to ALOXE3 gene on chromosome 17p13. Subsequently, sequencing of these genes using samples from affected family members led to the identification of three novel mutations: a missense variant p.Trp455Arg in TGM1 (family A); a nonsense variant p.Arg140* in ALOXE3 (family B); and a complex rearrangement in ALOXE3 (family C). Conclusion The present study further extends the spectrum of mutations in the two genes involved in causing ARCI. Characterizing the clinical spectrum resulting from mutations in the TGM1 and ALOXE3 genes will improve diagnosis and may direct clinical care of the family members. PMID:26578203
Jackson, Margot I; Mayne, Patrick
Because children disproportionately live in poverty, they are especially vulnerable during economic crises, making the social safety net a key buffer against the effects of economic disadvantage on their development. The Great Recession of 2007-2009 had strong and lasting effects on American children and families, including striking negative effects on their health environments. Understanding access to the health safety net during this time of increased economic need, as well as the extent to which all children-regardless of age, income or race/ethnicity-share in the increased use of transfer programs, is therefore important in identifying the availability and accessibility of government assistance for those in need. Focusing on the Special Supplemental Nutrition Program for Women, Infants and Children (WIC) program because of its strong effects on child development, we use longitudinal data from the Survey of Income and Program Participation (SIPP) to examine change and stability in children's WIC enrollment before, during and after the recession. Specifically, we examine: 1) whether children's WIC enrollment increased alongside changing family income, and 2) the extent to which changes in participation were shared by all subpopulations, regardless of age, income, and race/ethnicity. Analyses reveal that WIC participation among eligible children increased leading up to, during, and after the Great Recession, suggesting that the program was responsive to increasing economic need. Examining the distribution of WIC enrollment across demographic groups largely reveals a pattern of stable inequality in access and "take up." Children born to poorer and less-educated mothers were more likely to be enrolled prior to the recession, and these differences remain mostly constant during and after the recession. Eligible Hispanic children had consistently higher enrollment, particularly among those in families with foreign-born mothers. The findings suggest that not all
Thiede, Brian C; Monnat, Shannon M
The Great Recession of 2007-2009 was the most severe and lengthy economic crisis in the U.S. since the Great Depression. The impacts on the population were multi-dimensional, but operated largely through local labor markets. To examine differences in recession-related changes in county unemployment rates and assess how population and place characteristics shaped these patterns. We calculate and decompose Theil Indexes to describe recession-related changes in the distribution of unemployment rates between counties and states. We use exploratory spatial statistics to identify geographic clusters of counties that experienced similar changes in unemployment. We use spatial regression to evaluate associations between county-level recession impacts on unemployment and demographic composition, industrial structure, and state context. The recession was associated with increased inequality between county labor markets within states, but declining between-state differences. Counties that experienced disproportionate recession-related increases in unemployment were spatially clustered and characterized by large shares of historically disadvantaged racial and ethnic minority populations, low educational attainment, and heavy reliance on pro-cyclical industries. Associations between these sources of vulnerability were partially explained by unobserved state-level factors. The local consequences of macroeconomic trends are associated with county population characteristics, as well as the structural contexts and policy environments in which they are embedded. The recession placed upward pressure on within-state inequality between local labor market conditions. To present new estimates of the recession's impact on local labor markets, quantify how heterogeneous impacts affected the distribution of unemployment prevalence, and identify county characteristics associated with disproportionately large recession-related increases in unemployment.
Gomez, Scarlett Lin; Canchola, Alison J; Nelson, David O; Keegan, Theresa H M; Clarke, Christina A; Cheng, Iona; Shariff-Marco, Salma; DeRouen, Mindy; Catalano, Ralph; Satariano, William A; Davidson-Allen, Kathleen; Glaser, Sally L
In recent years, cancer case counts in the U.S. underwent a large, rapid decline-an unexpected change given population growth for older persons at highest cancer risk. As these declines coincided with the Great Recession, we examined whether they were related to economic conditions. Using California Cancer Registry data from California's 30 most populous counties, we analyzed trends in cancer incidence during pre-recession (1996-2007) and recession/recovery (2008-2012) periods for all cancers combined and the ten most common sites. We evaluated the recession's association with rates using a multifactorial index that measured recession impact, and modeled associations between case counts and county-level unemployment rates using Poisson regression. Yearly cancer incidence rate declines were greater during the recession/recovery (3.3% among males, 1.4% among females) than before (0.7 and 0.5%, respectively), particularly for prostate, lung, and colorectal cancers. Lower case counts, especially for prostate and liver cancer among males and breast cancer, melanoma, and ovarian cancer among females, were associated with higher unemployment rates, irrespective of time period, but independent of secular effects. The associations for melanoma translated up to a 3.6% decrease in cases with each 1% increase in unemployment. Incidence declines were not greater in counties with higher recession impact index. Although recent declines in incidence of certain cancers are not differentially impacted by economic conditions related to the Great Recession relative to pre-recession conditions, the large recent absolute declines in the case counts of some cancer may be attributable to the large declines in unemployment in the recessionary period. This may occur through decreased engagement in preventive health behaviors, particularly for clinically less urgent cancers. Continued monitoring of trends is important to detect any rises in incidence rates as deferred diagnoses come to
Full Text Available Background: The Great Recession of 2007-2009 was the most severe and lengthy economic crisis in the US since the Great Depression of the 1930s. The impacts on the population were multi-dimensional, but operated largely through local labor markets. Objective: To examine differences in recession-related changes in county unemployment rates and assess how population and place characteristics shaped these patterns. Methods: We calculate and decompose Theil Indexes to describe recession-related changes in the distribution of unemployment rates between counties and states. We use exploratory spatial statistics to identify geographic clusters of counties that experienced similar changes in unemployment. We use spatial regression to evaluate associations between county-level recession impacts on unemployment and demographic composition, industrial structure, and state context. Results: The recession was associated with increased inequality between county labor markets within states, but declining between-state differences. Counties that experienced disproportionate recession-related increases in unemployment were spatially clustered and characterized by large shares of historically disadvantaged racial and ethnic minority populations, low educational attainment, and heavy reliance on pro-cyclical industries. Associations between these sources of vulnerability were partially explained by unobserved state-level factors. Conclusions: The local consequences of macroeconomic trends are associated with county population characteristics, and the structural contexts and policy environments in which they are embedded. The recession placed upward pressure on within-state disparities in local labor market conditions. Contribution: To present new estimates of the recession's impact on local labor markets, quantify how heterogeneous impacts affected the distribution of unemployment prevalence, and identify county characteristics associated with disproportionately
H'mida-Ben Brahim, D; M'zahem, A; Assoum, M; Bouhlal, Y; Fattori, F; Anheim, M; Ali-Pacha, L; Ferrat, F; Chaouch, M; Lagier-Tourenne, C; Drouot, N; Thibaut, C; Benhassine, T; Sifi, Y; Stoppa-Lyonnet, D; N'Guyen, K; Poujet, J; Hamri, A; Hentati, F; Amouri, R; Santorelli, F M; Tazir, M; Koenig, M
The diagnosis of rare inherited diseases is becoming more and more complex as an increasing number of clinical conditions appear to be genetically heterogeneous. Multigenic inheritance also applies to the autosomal recessive progressive cerebellar ataxias (ARCAs), for which 14 genes have been identified and more are expected to be discovered. We used homozygosity mapping as a guide for identification of the defective locus in patients with ARCA born from consanguineous parents. Patients from 97 families were analyzed with GeneChip Mapping 10K or 50K SNP Affymetrix microarrays. We identified six families homozygous for regions containing the autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) gene, two families homozygous for the ataxia-telangiectasia gene (ATM), two families homozygous for the ataxia with oculomotor apraxia type 1 (AOA1) gene, and one family homozygous for the AOA type 2 (AOA2) gene. Upon direct gene testing, we were able to identify a disease-related mutation in all families but one of the two kindred homozygous at the ATM locus. Although linkage analyses pointed to a single locus on chromosome 11q22.1-q23.1 for this family, clinical features, normal levels of serum alpha-foetoprotein as well as absence of mutations in the ATM gene rather suggest the existence of an additional ARCA-related gene in that interval. While the use of homozygosity mapping was very effective at pointing to the correct gene, it also suggests that the majority of patients harbor mutations either in the genes of the rare forms of ARCA or in genes yet to be identified.
Full Text Available Cognitive metaphor analysts comprehend metaphor as a convenient way of not only talking about real life events but also thinking about them: connecting ideas, explaining abstract ideas that are difficult to grasp, conveying messages and emotions, etc. Thus, metaphor in real-world discourse is increasingly becoming the focus of many cognitive studies. In political discourse, metaphor is seen as an ideological tool of deliberate attempts to influence, persuade and manipulate people. As Charteris-Black (2005: 16 put it, politicians try to establish themselves in a positive light or legitimize themselves, i.e., by presenting evidence that they are charismatic leaders who are capable of running their country efficiently. Legitimization goes hand in hand with delegitimization, i.e., negative other-presentation. Metaphor as a cognitive mechanism of ideology may serve both as positive self-representation and as a tool for fault-finding in others. Thus, the study focuses on how three Lithuanian socio-political groups (the leading party, the opposition, and the media legitimize themselves and delegitimize their opponents by using force metaphors to conceptualize the worldwide economic recession. The findings indicate that although the same conceptual metaphor is used for legitimization and delegitimization, its fulfilment scenario appears to be markedly different and it carries different rhetorical implications in the three discourses.
Full Text Available We describe a case of anhidrotic ectodermal dysplasia (AED with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED, which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic.
Bor, Jacob; Basu, Sanjay; Coutts, Adam; McKee, Martin; Stuckler, David
The aim of this study was to assess changes in alcohol use in the USA during the Great Recession. Drinking participation, drinking frequency, drinking intensity, total alcohol consumption and frequency of binge drinking were assessed in a nationally representative sample of 2,050,431 US women and men aged 18 and older, interviewed between 2006 and 2010. The prevalence of any alcohol use significantly declined during the economic recession, from 52.0% in 2006-2007 to 51.6% in 2008-2009 (P Great Recession there was an increase in abstention from alcohol and a rise in frequent binging.
are useful predictors of US recessions over and above the control variables both in and out of sample. Especially the excess bond premium, capturing the cyclical changes in the relationship between default risk and credit spreads, is found to be a powerful predictor. Overall, models that combine credit......We study the role of credit in forecasting US recession periods with probit models. We employ both classical recession predictors and common factors based on a large panel of financial and macroeconomic variables as control variables. Our findings suggest that a number of credit variables...
Full Text Available The 2008 and 2009 recession increased pressure on travellers to cut costs on luxury items, such as going on holiday, and this has led to a global tourism decline of 8%. This, however, was not the case in the Kruger National Park (KNP in South Africa where a sustained 1.6% accommodation unit occupancy growth was experienced. In order to sustain this growth, it is of the utmost importance to determine why people still visited the Park during this period. Thus the aim of the study was to determine why people still visited the KNP amidst the 2008 and 2009 economic recession. A total of 355 completed questionnaires were obtained at the Park during 15 December 2009 – 20 December 2009 (high season after which various analyses (including factor analysis were conducted. Six motives were identified and ‘escape’, ‘wildlife experience’ and ‘family benefits’ were rated most important. Push factors were more dominant to the extent that visitors regard taking a holiday to the Park as a necessity. It furthermore seems that visitors adapt their spending behaviour at the Park to still be able to afford the visit. This was the first time that research was conducted at a national park during a recession period and this information is important for South African National Parks, seeing as it provides a better understanding of visitors’ behaviour as well as feeling towards the Park (especially during recession, and leads to improved niche marketing and a competitive advantage. This research also provides a better understanding of visitors’ behaviour during economic downturns.
Grønskov, Karen; Dooley, Christopher M; Østergaard, Elsebet; Kelsh, Robert N; Hansen, Lars; Levesque, Mitchell P; Vilhelmsen, Kaj; Møllgård, Kjeld; Stemple, Derek L; Rosenberg, Thomas
Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that segregated with the disease and showed a recessive inheritance pattern. Investigation of additional albinism-affected individuals from the Faroe Islands revealed that five out of eight unrelated affected persons had the nonsense mutation in C10orf11. Screening of a cohort of autosomal-recessive-albinism-affected individuals residing in Denmark showed a homozygous 1 bp duplication in C10orf11 in an individual originating from Lithuania. Immunohistochemistry showed localization of C10orf11 in melanoblasts and melanocytes in human fetal tissue, but no localization was seen in retinal pigment epithelial cells. Knockdown of the zebrafish (Danio rerio) homolog with the use of morpholinos resulted in substantially decreased pigmentation and a reduction of the apparent number of pigmented melanocytes. The morphant phenotype was rescued by wild-type C10orf11, but not by mutant C10orf11. In conclusion, we have identified a melanocyte-differentiation gene, C10orf11, which when mutated causes autosomal-recessive albinism in humans. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Rees, E; Kirov, G; Walters, J T; Richards, A L; Howrigan, D; Kavanagh, D H; Pocklington, A J; Fromer, M; Ruderfer, D M; Georgieva, L; Carrera, N; Gormley, P; Palta, P; Williams, H; Dwyer, S; Johnson, J S; Roussos, P; Barker, D D; Banks, E; Milanova, V; Rose, S A; Chambert, K; Mahajan, M; Scolnick, E M; Moran, J L; Tsuang, M T; Glatt, S J; Chen, W J; Hwu, H-G; Neale, B M; Palotie, A; Sklar, P; Purcell, S M; McCarroll, S A; Holmans, P; Owen, M J; O'Donovan, M C
Genetic associations involving both rare and common alleles have been reported for schizophrenia but there have been no systematic scans for rare recessive genotypes using fully phased trio data. Here, we use exome sequencing in 604 schizophrenia proband-parent trios to investigate the role of recessive (homozygous or compound heterozygous) nonsynonymous genotypes in the disorder. The burden of recessive genotypes was not significantly increased in probands at either a genome-wide level or in any individual gene after adjustment for multiple testing. At a system level, probands had an excess of nonsynonymous compound heterozygous genotypes (minor allele frequency, MAF ⩽ 1%) in voltage-gated sodium channels (VGSCs; eight in probands and none in parents, P = 1.5 × 10(-)(4)). Previous findings of multiple de novo loss-of-function mutations in this gene family, particularly SCN2A, in autism and intellectual disability provide biological and genetic plausibility for this finding. Pointing further to the involvement of VGSCs in schizophrenia, we found that these genes were enriched for nonsynonymous mutations (MAF ⩽ 0.1%) in cases genotyped using an exome array, (5585 schizophrenia cases and 8103 controls), and that in the trios data, synaptic proteins interacting with VGSCs were also enriched for both compound heterozygosity (P = 0.018) and de novo mutations (P = 0.04). However, we were unable to replicate the specific association with compound heterozygosity at VGSCs in an independent sample of Taiwanese schizophrenia trios (N = 614). We conclude that recessive genotypes do not appear to make a substantial contribution to schizophrenia at a genome-wide level. Although multiple lines of evidence, including several from this study, suggest that rare mutations in VGSCs contribute to the disorder, in the absence of replication of the original findings regarding compound heterozygosity, this conclusion requires evaluation in a larger sample of trios.
Shotland Lawrence I
Full Text Available Abstract Background Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10. TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In this study, we searched for mutant alleles of TMPRSS3 in families from Pakistan and Newfoundland with recessive deafness co-segregating with DFNB8/B10 linked haplotypes and also more thoroughly characterized the genomic structure of TMPRSS3. Methods We enrolled families segregating recessive hearing loss from Pakistan and Newfoundland. Microsatellite markers flanking the TMPRSS3 locus were used for linkage analysis. DNA samples from participating individuals were sequenced for TMPRSS3. The structure of TMPRSS3 was characterized bioinformatically and experimentally by sequencing novel cDNA clones of TMPRSS3. Results We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. We also identified two recessive mutations, one of which is novel, of TMPRSS3 segregating in a six-generation extended family from Newfoundland. The spectrum of TMPRSS3 mutations is reviewed in the context of a genotype-phenotype correlation. Our study also revealed a longer isoform of TMPRSS3 with a hitherto unidentified exon encoding a signal peptide, which is expressed in several tissues. Conclusion Mutations of TMPRSS3 contribute to hearing loss in many communities worldwide and account for 1.8% (8 of 449 of Pakistani families segregating congenital deafness as an autosomal recessive trait. The newly identified TMPRSS3 isoform e will be helpful in the functional characterization of the full length protein.
McKenna, Caoimhe S; Law, Catherine; Pearce, Anna
During the recent "Great Recession," many families in the United Kingdom experienced increased financial strain (FS). The aim of this study was to determine if increases in FS, occurring over the period of the "Great Recession," were associated with increased risks of persistent and relapsed tobacco use among parents. We analyzed the Millennium Cohort Study, a longitudinal study of 18819 children born in the United Kingdom between 2000 and 2002. Surveys at 7 (T1, 2008) and 11 years (T2, 2012) spanned the "Great Recession." Three measures of increased FS were defined; "became income poor" (self-reported household income dropped below the "poverty line" between T1 and T2); "developed difficulty managing" (parental report of being "financially comfortable" at T1 and finding it "difficult to manage" at T2); "felt worse off" (parental report of feeling financially "worse off" at T2, compared to T1). Poisson regression was used to estimate risk ratios (RR), adjusted RRs (aRR), and 95% confidence intervals for three outcomes: "persistent tobacco use," "new reported tobacco use," and "relapsed tobacco use." Parents in households which "became income poor" over the period of the "Great Recession" were significantly more likely to report "persistent tobacco use" (aRR = 2.17 [1.83-2.57]) or "new reported tobacco use" (aRR = 1.72 [1.04-2.83]). Ninety-five percent of "new reported tobacco users" had evidence of prior tobacco use suggesting the majority were "relapsed tobacco users." Similar patterns were seen for those who "developed difficulty managing" and "felt worse off." Increased tobacco use among financially strained families has the potential to widen inequalities and undermine the public health policies that have had positive impacts on tobacco consumption in the United Kingdom. While several studies have shown that FS is associated with a higher prevalence of tobacco use, heavier smoking, and relapsed tobacco use, most of this work used cross-sectional data and none
... collapse boxes. Description Autosomal recessive congenital stationary night blindness is a disorder of the retina , which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing ...
National Aeronautics and Space Administration — The Phase II project will develop a suite of diagnostic sensors using Direct Write technology to measure temperature, surface recession depth, and heat flux of an...
In the Okavango Delta, Botswana, flood-recession farming (molapu) is a lucrative but ... Moreover, some practices involved in molapu farming may pose a threat to the ... Linking research to urban planning at the ICLEI World Congress 2018.
Burke, Tomas R; Duncker, Tobias; Woods, Russell L; Greenberg, Jonathan P; Zernant, Jana; Tsang, Stephen H; Smith, R Theodore; Allikmets, Rando; Sparrow, Janet R; Delori, François C
To quantify fundus autofluorescence (qAF) in patients with recessive Stargardt disease (STGD1). A total of 42 STGD1 patients (ages: 7-52 years) with at least one confirmed disease-associated ABCA4 mutation were studied. Fundus AF images (488-nm excitation) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for variable laser power and detector sensitivity. The gray levels (GLs) of each image were calibrated to the reference, zero GL, magnification, and normative optical media density to yield qAF. Texture factor (TF) was calculated to characterize inhomogeneities in the AF image and patients were assigned to the phenotypes of Fishman I through III. Quantified fundus autofluorescence in 36 of 42 patients and TF in 27 of 42 patients were above normal limits for age. Young patients exhibited the relatively highest qAF, with levels up to 8-fold higher than healthy eyes. Quantified fundus autofluorescence and TF were higher in Fishman II and III than Fishman I, who had higher qAF and TF than healthy eyes. Patients carrying the G1916E mutation had lower qAF and TF than most other patients, even in the presence of a second allele associated with severe disease. Quantified fundus autofluorescence is an indirect approach to measuring RPE lipofuscin in vivo. We report that ABCA4 mutations cause significantly elevated qAF, consistent with previous reports indicating that increased RPE lipofuscin is a hallmark of STGD1. Even when qualitative differences in fundus AF images are not evident, qAF can elucidate phenotypic variation. Quantified fundus autofluorescence will serve to establish genotype-phenotype correlations and as an outcome measure in clinical trials.
Burke, Tomas R.; Duncker, Tobias; Woods, Russell L.; Greenberg, Jonathan P.; Zernant, Jana; Tsang, Stephen H.; Smith, R. Theodore; Allikmets, Rando; Sparrow, Janet R.; Delori, François C.
Purpose. To quantify fundus autofluorescence (qAF) in patients with recessive Stargardt disease (STGD1). Methods. A total of 42 STGD1 patients (ages: 7–52 years) with at least one confirmed disease-associated ABCA4 mutation were studied. Fundus AF images (488-nm excitation) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for variable laser power and detector sensitivity. The gray levels (GLs) of each image were calibrated to the reference, zero GL, magnification, and normative optical media density to yield qAF. Texture factor (TF) was calculated to characterize inhomogeneities in the AF image and patients were assigned to the phenotypes of Fishman I through III. Results. Quantified fundus autofluorescence in 36 of 42 patients and TF in 27 of 42 patients were above normal limits for age. Young patients exhibited the relatively highest qAF, with levels up to 8-fold higher than healthy eyes. Quantified fundus autofluorescence and TF were higher in Fishman II and III than Fishman I, who had higher qAF and TF than healthy eyes. Patients carrying the G1916E mutation had lower qAF and TF than most other patients, even in the presence of a second allele associated with severe disease. Conclusions. Quantified fundus autofluorescence is an indirect approach to measuring RPE lipofuscin in vivo. We report that ABCA4 mutations cause significantly elevated qAF, consistent with previous reports indicating that increased RPE lipofuscin is a hallmark of STGD1. Even when qualitative differences in fundus AF images are not evident, qAF can elucidate phenotypic variation. Quantified fundus autofluorescence will serve to establish genotype-phenotype correlations and as an outcome measure in clinical trials. PMID:24677105
Pawlowski, Charlotte Skau; Andersen, Henriette Bondo; Tjørnhøj-Thomsen, Tine
BACKGROUND: Increasing recess physical activity has been the aim of several interventions, as this setting can provide numerous physical activity opportunities. However, it is unclear if these interventions are equally effective for all children, or if they only appeal to children who are already...... the classroom as a space for physical activity, designing schoolyards with smaller secluded spaces and varied facilities, improving children's self-esteem and body image, e.g., during physical education, and creating teacher organised play activities during recess....
Thiede, Brian C.; Monnat, Shannon M.
Background The Great Recession of 2007–2009 was the most severe and lengthy economic crisis in the U.S. since the Great Depression. The impacts on the population were multi-dimensional, but operated largely through local labor markets. Objective To examine differences in recession-related changes in county unemployment rates and assess how population and place characteristics shaped these patterns. Methods We calculate and decompose Theil Indexes to describe recession-related changes in the distribution of unemployment rates between counties and states. We use exploratory spatial statistics to identify geographic clusters of counties that experienced similar changes in unemployment. We use spatial regression to evaluate associations between county-level recession impacts on unemployment and demographic composition, industrial structure, and state context. Results The recession was associated with increased inequality between county labor markets within states, but declining between-state differences. Counties that experienced disproportionate recession-related increases in unemployment were spatially clustered and characterized by large shares of historically disadvantaged racial and ethnic minority populations, low educational attainment, and heavy reliance on pro-cyclical industries. Associations between these sources of vulnerability were partially explained by unobserved state-level factors. Conclusions The local consequences of macroeconomic trends are associated with county population characteristics, as well as the structural contexts and policy environments in which they are embedded. The recession placed upward pressure on within-state inequality between local labor market conditions. Contribution To present new estimates of the recession’s impact on local labor markets, quantify how heterogeneous impacts affected the distribution of unemployment prevalence, and identify county characteristics associated with disproportionately large recession
Peter N. Ireland
With an estimated New Keynesian model, this paper compares the "Great Recession" of 2007-09 to its two immediate predecessors in 1990-91 and 2001. The model attributes all three downturns to a similar mix of aggregate demand and supply disturbances. The most recent series of adverse shocks lasted longer and became more severe, however, prolonging and deepening the Great Recession. In addition, the zero lower bound on the nominal interest rate prevented monetary policy from stabilizing the US ...
Cerveny, J.; Ours, J.C. van
Abstract: This paper examines whether unemployment of non-western immigrant workers in the Netherlands was disproportionally affected by the Great Recession. We analyze unemployment data covering the period November 2007 to February 2013 finding that the Great Recession affected unemployment rates of non-western immigrant workers in absolute terms more than unemployment rates of native workers. However, in relative terms there is not much of a difference. We also find that the sensitivity of ...
Arindam MANDAL; Prasun BHATTACHARJEE
This study analyzes the impact of the outbreak of the Great Recession of 2007 on the behavior of the Indian stock market. The SENSEX index of the Bombay Stock Exchange is analyzed for the prerecession period of January 2002 – November 2007 and the postrecession outbreak period of December 2007 – July 2010. Substantial increase in SENSEX return volatility observed during the post-recession outbreak period, whereas no substantial difference in returns between two periods is...
Chrysanthakopoulos, Nikolaos A
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. 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. 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. 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.
The author discusses the construction of models using the five elementary constants esub(s), h/2π, G, c and ksub(B) which can produce a macro or micro world with exacticity. All physical processes in nature determine the gravitational universe recession. A diagram is presented comparing the gravitational and weakly interacting recession. The Big-Bang model is discussed. (A.N.K.)
Ickes, Melinda J; Erwin, Heather; Beighle, Aaron
With the rapid increase in obesity rates among youth, efforts to increase physical activity (PA) have become a priority. School-based strategies for PA promotion must be cost-effective, unobtrusive, and linked to improved academic performance. Efforts to maximize recess PA are advocated because of both health and academic benefits. The purpose of this manuscript was to review recess interventions aimed to improve PA among youth, and make recommendations to develop related best practices. An extensive literature search was conducted to include all primary research articles evaluating any recess intervention with PA as an outcome. The included 13 interventions represented both settings within the U.S and internationally, among preschools and elementary/primary schools. A variety of strategies were used within the design and implementation of each of the interventions including: added equipment/materials, markings, zones, teacher involvement, active video games, activity of the week, and activity cards. Of the included studies, 95% demonstrated positive outcomes as a result of the recess intervention. A number of simple, low-cost strategies can be implemented to maximize the amount of recess time students are allotted. Long-term follow-up studies are warranted for each of the recess strategies identified to be effective.
Chakrabarti, Rajashri; Sutherland, Sarah
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…
N. Y. Krakauer
Full Text Available The pattern of streamflow recession after rain events offers clues about the relationship between watershed runoff (observable as river discharge and water storage (not directly observable and can help in water resource assessment and prediction. However, there have been few systematic assessments of how streamflow recession varies across flow rates and how it relates to independent assessments of terrestrial water storage. We characterized the streamflow recession pattern in 61 relatively undisturbed small watersheds (1–100 km2 across the coterminous United States with multiyear records of hourly streamflow from automated gauges. We used the North American Regional Reanalysis to help identify periods where precipitation, snowmelt, and evaporation were small compared to streamflow. The order of magnitude of the recession timescale increases from 1 day at high flow rates (~1 mm h−1 to 10 days at low flow rates (~0.01 mm h−1, leveling off at low flow rates. There is significant variability in the recession timescale at a given flow rate between basins, which correlates with climate and geomorphic variables such as the ratio of mean streamflow to precipitation and soil water infiltration capacity. Stepwise multiple regression was used to construct a six-variable predictive model that explained some 80 % of the variance in recession timescale at high flow rates and 30–50 % at low flow rates. Seasonal and interannual variability in inferred storage shows similar time evolution to regional-scale water storage variability estimated from GRACE satellite gravity data and from land surface modeling forced by observed meteorology, but is up to a factor of 10 smaller. Study of this discrepancy in the inferred storage amplitude may provide clues to the range of validity of the recession curve approach to relating runoff and storage.
Dirk J Lefeber
Full Text Available Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children. Here, we describe 11 young patients (5-13 years with a predominant presentation of dilated cardiomyopathy (DCM. Metabolic investigations showed deficient protein N-glycosylation, leading to a diagnosis of Congenital Disorders of Glycosylation (CDG. Homozygosity mapping in the consanguineous families showed a locus with two known genes in the N-glycosylation pathway. In all individuals, pathogenic mutations were identified in DOLK, encoding the dolichol kinase responsible for formation of dolichol-phosphate. Enzyme analysis in patients' fibroblasts confirmed a dolichol kinase deficiency in all families. In comparison with the generally multisystem presentation in CDG, the nonsyndromic DCM in several individuals was remarkable. Investigation of other dolichol-phosphate dependent glycosylation pathways in biopsied heart tissue indicated reduced O-mannosylation of alpha-dystroglycan with concomitant functional loss of its laminin-binding capacity, which has been linked to DCM. We thus identified a combined deficiency of protein N-glycosylation and alpha-dystroglycan O-mannosylation in patients with nonsyndromic DCM due to autosomal recessive DOLK mutations.
This study investigates how the ecologically unequal exchange of carbon dioxide emissions varies with economic recessions. I propose a country-specific approach to examine (1) the relationship between carbon dioxide emissions in developing countries and the "vertical flow" of exports to the United States; and (2) the variations of the relationship before, during, and after two recent economic recessions in 2001 and 2008. Using data on 69 developing nations between 2000 and 2010, I estimate time-series cross-sectional regression models with two-way fixed effects. Results suggest that the vertical flow of exports to the United States is positively associated with carbon dioxide emissions in developing countries. The magnitude of this relationship increased in 2001, 2009, and 2010, and decreased in 2008, but remained stable in non-recession periods, suggesting that economic recessions in the United States are associated with variations of ecologically unequal exchange. Results highlight the impacts of U.S. recessions on carbon emissions in developing countries through the structure of international trade. Copyright © 2018 Elsevier Inc. All rights reserved.
Dayananda Kumar Rajanna
Full Text Available 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.
Full Text Available In light of the recent macroeconomic instability in global markets, we examine the evolution of competitive dynamics and firm profitability when industries are subject to recessions. Although ordinary intuition leads most to view recessions as harmful, we highlight conditions under which they enhance the relative value of industry-level supply-side isolating mechanisms, thereby affording early movers significant and sustainable profit advantages vis-à-vis laggards. We observe that the distribution of firm size within the industry switches from a bi-modal distribution (i.e., one dominated by both small and large firms to a right-skewed one (i.e., dominated mostly by large firms in these contexts, thereby signaling the rise of important opportunities in the form of less rivalrous competitive contexts for survivors of recessions. We derive our results from formal modeling and multiple simulation runs.
George J. Avlonitis
Full Text Available Recession is an extremely difficult period for most companies. Especially when a recession has universal dimensions, many companies find themselves unprepared to face great challenges. While marketing in good times has a long-term focus, a broad scope, it is benefits- and opportunities-driven and proactive, in bad times it has a short-term focus, limited and narrow scope, it is cost-and sales-driven and reactive. Panic is not the right reaction. Such difficult times should be overcome through methodical and well planned actions. After all, research has shown that those companies that take a proactive stance and treat the recession as an opportunity are likely to come out of the crisis stronger than before. Specific marketing activities have been proved to be beneficial to companies during a downturn. Below we analyze, ten marketing survival strategies and tactics.
Full Text Available This study analyzes the impact of the outbreak of the Great Recession of 2007 on the behavior of the Indian stock market. The SENSEX index of the Bombay Stock Exchange is analyzed for the prerecession period of January 2002 – November 2007 and the postrecession outbreak period of December 2007 – July 2010. Substantial increase in SENSEX return volatility observed during the post-recession outbreak period, whereas no substantial difference in returns between two periods is found. Also strong co-movements in returns and volatility are observed between the SENSEX and other major stock indexes during the post-recession period. Our results establish the dominance of global factors in influencing Indian stock market behavior during periods of economic turmoil.
Bouhouche Ahmed; Benomar Ali; Errguig Leila; Lachhab Lamiae; Bouslam Naima; Aasfara Jehanne; Sefiani Sanaa; Chabraoui Layachi; El Fahime Elmostafa; El Quessar Abdeljalil; Jiddane Mohamed; Yahyaoui Mohamed
Abstract Background Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. Methods All family members underwent neurologic...
Full Text Available Purpose: This study aims to describe and compare modified hang-back recession with the conventional hang-back recession in large angle comitant exotropia (XT. Methods: A prospective, interventional, double-blinded, randomized study on adult patients (>18 years undergoing single eye recession-resection for large angle (>30 prism diopters constant comitant XT was conducted between January 2011 and December 2015. Patients in Group A underwent modified hang-back lateral rectus recession with adjustable knot while in Group B underwent conventional hang-back recession with an adjustable knot. Outcome parameters studied were readjustment rate, change in deviation at 6 weeks, complications and need for resurgery at 6 months. Results: The groups were comparable in terms of age and preoperative deviation. The patients with the modified hang back (Group A fared significantly better (P < 0.05 than those with conventional hang back (Group B in terms of lesser need for adjustment, greater correction in deviation at 6 weeks and lesser need for resurgery at 6 months. Conclusion: This modification offers several advantages, significantly reduces resurgery requirement and has no added complications.
Reynolds, Mark A
A convenience sample of 60 subjects (27 male; 33 female) with tongue piercings (case group) and 120 subjects (43 male; 77 female) without tongue piercings (control group), ranging in age from 13 to 28 years, were identified from a mix of races living in a geographic area of low socioeconomic status in Brazil. Subjects were recruited from school groups and university centers between January 2008 and March 2009. For each case, 2 controls were selected on a consecutive basis from the same school according to criteria that included age, gender, smoking, and previous orthodontic treatment. Exclusion criteria included individuals with systemic diseases that might compromise the immune system, as well as antibiotics within 3 months or other medications that could affect the gingival tissues. The key study factor was the use or nonuse of tongue piercings (jewelry). The analysis compared periodontal parameters, such as the occurrence, location, and severity of gingival recession, in subjects with and without tongue jewelry. Gingival recession in the anterior lingual mandibular region was assessed as the primary outcome measure. The study sample was divided according to the presence or absence of gingival recession as well as the severity (1-2, 3, and ≥ 4 mm) of gingival recession. The average age of subjects was similar in the case and control groups (18.9 versus 17.7 years, respectively). Fractures of the anterior teeth were present significantly more frequently in cases than controls (26.7% versus 11.7%, respectively; P piercings (OR = 11.0, 95% confidence interval [CI] 5.02-24.09, P <.001). The severity of recession in this region was also significantly higher (calculated using an ordinal scale) in cases than in controls (P < .001). The final multivariate logistic regression model for occurrence of gingival recession included the variables tongue jewelry (yes/no), age, male gender, and the presence of bleeding on probing in the anterior region. Subjects with tongue
Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S; El-Khayat, Hamed A; Eid, Ola M; Saba, Soliman; Farag, Mona K; Saleem, Sahar N; Gaber, Khaled R
The term fetal brain disruption sequence (FBDS) was coined to describe a number of sporadic conditions caused by numerous external disruptive events presenting with variable imaging findings. However, rare familial occurrences have been reported. We describe five patients (two sib pairs and one sporadic) with congenital severe microcephaly, seizures, and profound intellectual disability. Brain magnetic resonance imaging (MRI) revealed unique and uniform picture of underdeveloped cerebral hemispheres with increased extraxial CSF, abnormal gyral pattern (polymicrogyria-like lesions in two sibs and lissencephaly in the others), loss of white matter, dysplastic ventricles, hypogenesis of corpus callosum, and hypoplasia of the brainstem, but hypoplastic cerebellum in one. Fetal magnetic resonance imaging (FMRI) of two patients showed the same developmental brain malformations in utero. These imaging findings are in accordance with arrested brain development rather than disruption. Molecular analysis excluded mutations in potentially related genes such as NDE1, MKL2, OCLN, and JAM3. These unique clinical and imaging findings were described before among familial reports with FBDS. However, our patients represent a recognizable phenotype of developmental brain malformations, that is, apparently distinguishable from either familial microhydranencephaly or microlissencephaly that were collectively termed FBDS. Thus, the use of the umbrella term FBDS is no longer helpful. Accordingly, we propose the term fetal brain arrest to distinguish them from other familial patients diagnosed as FBDS. The presence of five affected patients from three unrelated consanguineous families suggests an autosomal-recessive mode of inheritance. The spectrum of fetal brain disruption sequence is reviewed. © 2015 Wiley Periodicals, Inc.
Seymen, Figen; Kim, Youn Jung; Lee, Ye Ji; Kang, Jenny; Kim, Tak-Heun; Choi, Hwajung; Koruyucu, Mine; Kasimoglu, Yelda; Tuna, Elif Bahar; Gencay, Koray; Shin, Teo Jeon; Hyun, Hong-Keun; Kim, Young-Jae; Lee, Sang-Hoon; Lee, Zang Hee; Zhang, Hong; Hu, Jan C-C; Simmer, James P; Cho, Eui-Sic; Kim, Jung-Wook
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders affecting tooth enamel. The affected enamel can be hypoplastic and/or hypomineralized. In this study, we identified ACPT (testicular acid phosphatase) biallelic mutations causing non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta (AI) in individuals from six apparently unrelated Turkish families. Families 1, 4, and 5 were affected by the homozygous ACPT mutation c.713C>T (p.Ser238Leu), family 2 by the homozygous ACPT mutation c.331C>T (p.Arg111Cys), family 3 by the homozygous ACPT mutation c.226C>T (p.Arg76Cys), and family 6 by the compound heterozygous ACPT mutations c.382G>C (p.Ala128Pro) and 397G>A (p.Glu133Lys). Analysis of the ACPT crystal structure suggests that these mutations damaged the activity of ACPT by altering the sizes and charges of key amino acid side chains, limiting accessibility of the catalytic core, and interfering with homodimerization. Immunohistochemical analysis confirmed localization of ACPT in secretory-stage ameloblasts. The study results provide evidence for the crucial function of ACPT during amelogenesis. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Full Text Available Background: Regular and daily physical activity during childhood and at school is one of the important part of requirements of normal growth, development and well-being. To achieve physical activity promotion among school child aged population recess as outside of class time efforts is scheduled and allows students to engage in physical and social activities. The purpose of the present study was to assess recess activities as well as status of physical activities among a sample of Iranian students at the pri¬mary schools.Methods: This cross-sectional study was performed in four randomly se¬lected schools from a list of 26 elementary schools in March, 2012 in the city of Shahindej, located in North-west of Iran. Participants were 439 (10–12 years elementary schools’. Physical activity level by self-reporting, mental health using the parent-completed Child Health Questionnaire, and happiness was assessed using a Persian translated version of the Subjective Happiness Scale. Hierarchical logistic regression analysis was applied in two steps using the enter method to analyze data in the SPSS version 17.Results: Backward logistic regression analysis showed that gender of the parent who answered the study questions, father’s education, educational grade of children, BMI, physical function, physical health, health status of the children and family function were significantly related to the children’s physical activity level.Conclusion: Promoting parents’ awareness and schools’ staff about im¬portance of physical activities especially in recess times must be an impor¬tant part of school and community mental health promotion programs.
Rothwell, David W.; Han, Chang-Keun
The "hard times" resulting from the 2008 Great Recession represent an opportunity to re-examine the theoretical framework for how families use economic resources to manage stress. M. Sherraden's (1991) theory of assets and H. I. McCubbin and J. Patterson's (1983) family adjustment and adaptation response model informed this study of how assets…
Frone, Michael R
Organizational downsizing, which represents the reduction of an organization's workforce, results in a stressful work environment for those who survive the downsizing. However, we know little about the association between surviving an organizational downsizing and employee alcohol use. This study explored the association between exposure to organizational downsizing and four dimensions of alcohol use during the Great Recession. Also explored were the moderating influences of length of recession exposure, state drinking culture, gender, age, education, family income, and financial demands. Data for this study came from a national telephone survey of U.S. workers that was conducted from December 2008 to April 2011 (N=2296). The results revealed that exposure to organizational downsizing was positively associated with usual frequency of drinking, number of drinks consumed per usual drinking occasion, and both the frequency of binge drinking and drinking to intoxication. Length of exposure to the recession moderated the association between organizational downsizing exposure and usual number of drinks consumed. The conditional effects revealed that this association became stronger as length of exposure to the recession increased. Furthermore, age moderated the associations between organizational downsizing exposure and the usual number of drinks consumed and the frequency of binge drinking and intoxication. The conditional effects revealed that these associations were positive and significant among young survivors (ages 40 or younger), but were nonsignificant among middle-aged survivors (over 40years of age). State drinking culture, gender, education, family income, and financial demands did not moderate the associations between organizational downsizing exposure and alcohol use. Copyright © 2017 Elsevier Ltd. All rights reserved.
Full Text Available 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.
Bleeker-Wagemakers, L. M.; Gal, A.; Kumar-Singh, R.; van den Born, L. I.; Li, Y.; Schwinger, E.; Sandkuijl, L. A.; Bergen, A. A.; Kenna, P.; Humphries, P.
Recent evidence suggesting the involvement of mutant rhodopsin proteins in the pathogenesis of autosomal recessive retinitis pigmentosa has prompted us to investigate whether this form of the disease shows non-allelic genetic heterogeneity, as has previously been shown to be the case in autosomal
The oil peak and the 2007/2008 economic recession are the most recent major global events to destabilise the economies of African countries and to afflict the life chances and social (re) production of the subaltern classes. This paper critically analyses Ghana's oil and gas industry to illustrate these issues. The paper ...
Mazurova, K.; Renkema, A.M.; Navratilova, Z.; Katsaros, C.; Fudalej, P.S.
OBJECTIVE: To evaluate if facial type is a predictor of the development of gingival recession. METHODS: A cohort of 179 orthodontic patients (76 males, 101 females; age before treatment T S = 12.4 years, SD = 0.8) were followed until 5 years post-treatment (T 5 = 20.7 years, SD = 1.2). The presence
Andersen, Thomas Lykke; Burcharth, Hans F.
The front slope stability of breakwaters with a homogeneous berm was studied in a large number of two dimensional model tests at Aalborg University, Denmark. The results are presented together with a new formula for prediction of the berm recession which is the most important parameter...
Recession Linda Levine Specialist in Labor Economics May 26, 2010 Congressional Research Service 7-5700 www.crs.gov R40080 . c11173008 Report...2.8 million.23 Author Contact Information Linda Levine Specialist in Labor Economics email@example.com, 7-7756
Couch, Kenneth A.
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…
Lynch, Peter; Bustamante, Miguel D
We study the dynamics of a spherical rigid body that rocks and rolls on a plane under the effect of gravity. The distribution of mass is non-uniform and the centre of mass does not coincide with the geometric centre. The symmetric case, with moments of inertia I 1 = I 2 3 , is integrable and the motion is completely regular. Three known conservation laws are the total energy E, Jellett's quantity Q J and Routh's quantity Q R . When the inertial symmetry I 1 = I 2 is broken, even slightly, the character of the solutions is profoundly changed and new types of motion become possible. We derive the equations governing the general motion and present analytical and numerical evidence of the recession, or reversal of precession, that has been observed in physical experiments. We present an analysis of recession in terms of critical lines dividing the (Q R , Q J ) plane into four dynamically disjoint zones. We prove that recession implies the lack of conservation of Jellett's and Routh's quantities, by identifying individual reversals as crossings of the orbit (Q R (t), Q J (t)) through the critical lines. Consequently, a method is found to produce a large number of initial conditions so that the system will exhibit recession.
Caulkins, J.P.; Feichtinger, G.; Grass, D.; Hartl, R.F.; Kort, Peter; Seidl, A.
This paper considers the problem of how to price a conspicuous product while maintaining liquidity during a recession which both reduces demand and freezes credit markets. Reducing price would help maintain cash flow, but low prices can erode brand image and, hence, long-term sales. The paper
with age-appropriate complement of teeth except for a missing tooth 42. ... frenal attachment is more important in gingival recession in the child‑patient. A healthy child‑ ... spared rules out a possible role of brushing-induced gingival abrasion.
Thomas, P K; Kalaydjieva, L; Youl, B; Rogers, T; Angelicheva, D; King, R H; Guergueltcheva, V; Colomer, J; Lupu, C; Corches, A; Popa, G; Merlini, L; Shmarov, A; Muddle, J R; Nourallah, M; Tournev, I
A novel peripheral neuropathy of autosomal recessive inheritance has been identified in Balkan Gypsies and termed hereditary motor and sensory neuropathy-Russe (HMSN-R). We investigated 21 affected individuals from 10 families. Distal lower limb weakness began between the ages of 8 and 16 years, upper limb involvement beginning between 10 and 43 years, with an average of 22 years. This progressive disorder led to severe weakness of the lower limbs, generalized in the oldest subject (aged 57 years), and marked distal upper limb weakness. Prominent distal sensory loss involved all modalities, resulting in neuropathic joint degeneration in two instances. All patients showed foot deformity, and most showed hand deformity. Motor nerve conduction velocity was moderately reduced in the upper limbs but unobtainable in the legs. Sensory nerve action potentials were absent. There was loss of larger myelinated nerve fibers and profuse regenerative activity in the sural nerve. HMSN-R is a new form of autosomal recessive inherited HMSN caused by a single founder mutation in a 1 Mb interval on chromosome 10q.
Thedrez, Aurélie; Sjouke, Barbara; Passard, Maxime; Prampart-Fauvet, Simon; Guédon, Alexis; Croyal, Mikael; Dallinga-Thie, Geesje; Peter, Jorge; Blom, Dirk; Ciccarese, Milco; Cefalù, Angelo B; Pisciotta, Livia; Santos, Raul D; Averna, Maurizio; Raal, Frederick; Pintus, Paolo; Cossu, Maria; Hovingh, Kees; Lambert, Gilles
Proprotein convertase subtilisin kexin type 9 (PCSK9) inhibitors lower low-density lipoprotein (LDL) cholesterol in the vast majority of patients with autosomal dominant familial hypercholesterolemia. Will PCSK9 inhibition with monoclonal antibodies, in particular alirocumab, be of therapeutic value for patients with autosomal recessive hypercholesterolemia (ARH)? Primary lymphocytes were obtained from 28 genetically characterized ARH patients and 11 controls. ARH lymphocytes treated with mevastatin were incubated with increasing doses of recombinant PCSK9 with or without saturating concentrations of alirocumab. Cell surface LDL receptor expression measured by flow cytometry and confocal microscopy was higher in ARH than in control lymphocytes. PCSK9 significantly reduced LDL receptor expression in ARH lymphocytes albeit to a lower extent than in control lymphocytes (25% versus 76%, respectively), an effect reversed by alirocumab. Fluorescent LDL cellular uptake, also measured by flow cytometry, was reduced in ARH lymphocytes compared with control lymphocytes. PCSK9 significantly lowered LDL cellular uptake in ARH lymphocytes, on average by 18%, compared with a 46% reduction observed in control lymphocytes, an effect also reversed by alirocumab. Overall, the effects of recombinant PCSK9, and hence of alirocumab, on LDL receptor expression and function were significantly less pronounced in ARH than in control cells. PCSK9 inhibition with alirocumab on top of statin treatment has the potential to lower LDL cholesterol in some autosomal recessive hypercholesterolemia patients. © 2016 American Heart Association, Inc.
Ahmed, Zubair M; Smith, Tenesha N; Riazuddin, Saima; Makishima, Tomoko; Ghosh, Manju; Bokhari, Sirosh; Menon, Puthezhath S N; Deshmukh, Dilip; Griffith, Andrew J; Riazuddin, Sheikh; Friedman, Thomas B; Wilcox, Edward R
Human chromosome 11 harbors two Usher type I loci, USHIB and USHIC, which encode myosin VIIA and harmonin, respectively. The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18. We found an IVS12+5G-->C mutation in the USHIC gene, which is associated with nonsyndromic recessive deafness ( DFNB18) segregating in the original family, S-11/12. No other disease-associated mutation was found in the other 27 exons or in the intron-exon boundaries, and the IVS12+5G-->C mutation was not present in 200 representative unaffected individuals ascertained from the same area of India. An exon-trapping assay with a construct harboring IVS12+5G-->C generated wildtype spliced mRNA having exons 11 and 12 and mRNA that skipped exon 12. We conclude that mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18.
Ayers, John W; Althouse, Benjamin M; Allem, Jon-Patrick; Childers, Matthew A; Zafar, Waleed; Latkin, Carl; Ribisl, Kurt M; Brownstein, John S
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. 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. 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. 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. 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 screening patterns, and policy debate may be informed by changes in PD query
Sobotka, Tomáš; Skirbekk, Vegard; Philipov, Dimiter
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.
Egan, Mark; Daly, Michael; Delaney, Liam
Several studies have shown a link between psychological distress in early life and subsequent higher unemployment, but none have used sibling models to account for the unobserved family background characteristics which may explain the relationship. This paper uses the National Longitudinal Study of Youth 1997 data to examine whether adolescent psychological distress in 2000 predicts higher unemployment over 2000-11, whether this relationship changed in the period following the Great Recession, and whether it is robust to adjustment for family effects. 7125 cohort members (2986 siblings) self-reported their mental health in 2000 and employment activities over 2000-11. This association was examined using Probit and ordinary least squares regressions controlling for intelligence, physical health, other sociodemographic characteristics and family background. After adjustment for covariates and compared to those with low distress, highly distressed adolescents were 2.7 percentage points (32%) more likely to be unemployed, 5.1 points (26%) more likely to be unemployed or out of the labor force and experienced 11 weeks (28%) more unemployment. The impact of high distress was similar to a one standard deviation decrease in intelligence, and double the magnitude of having a serious physical health problem, and these estimates were robust to adjustment for family fixed-effects. The highly distressed were also disproportionately more likely to become unemployed or exit the labor force in the years following the Great Recession. These findings provide strong evidence of the unemployment penalty of early-life psychological distress and suggest that this relationship may be intensified during economic recessions. Investing in mental health in early life may be an effective way to reduce unemployment. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.
Orstavik, K H; Skjörten, F; Hellebostad, M; Hågå, P; Langslet, A
Familial cases of childhood congestive cardiomyopathy with X linked recessive inheritance and abnormalities of heart muscle mitochondria have been previously reported. We report here three families with possible X linked congestive cardiomyopathy and specific mitochondrial abnormalities. The heart disorder presented as endocardial fibroelastosis with neonatal death in two brothers in one family, and as heart failure and death in infancy in two brothers in the other two families. In one family...
Juan M. Sánchez; Lowell R. Ricketts
Conventional wisdom says that employment at small firms declines more than employment at large firms during recessions. However, that doesn’t seem to have been the case during the Great Recession of 2007-09.
Monies, Dorota; Maddirevula, Sateesh; Kurdi, Wesam; Alanazy, Mohammed H.; Alkhalidi, Hisham; Al-Owain, Mohammed; Sulaiman, Raashda A.; Faqeih, Eissa; Goljan, Ewa; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Shaheen, Ranad; Arold, Stefan T.; Alkuraya, Fowzan S.
The purpose of this study is to describe recessive alleles in strictly dominant genes. Identifying recessive mutations in genes for which only dominant disease or risk alleles have been reported can expand our understanding of the medical relevance
Cohen, Mervyn; Johnson, Tiffanie; Hoyer, Mark
We report a 4-year-old child with a high-riding superior aortic recess of the pericardium, initially misdiagnosed as a possible vascular malformation. The anatomy of the pericardial recesses is reviewed. (orig.)
Giaccone, Giorgio; Morbin, Michela; Moda, Fabio; Botta, Mario; Mazzoleni, Giulia; Uggetti, Andrea; Catania, Marcella; Moro, Maria Luisa; Redaelli, Veronica; Spagnoli, Alberto; Rossi, Roberta Simona; Salmona, Mario; Di Fede, Giuseppe; Tagliavini, Fabrizio
Mutations of three different genes, encoding β-amyloid precursor protein (APP), presenilin 1 and presenilin 2 are associated with familial Alzheimer's disease (AD). Recently, the APP mutation A673V has been identified that stands out from all the genetic defects previously reported in these three genes, since it causes the disease only in the homozygous state (Di Fede et al. in Science 323:1473-1477, 2009). We here provide the detailed neuropathological picture of the proband of this family, who was homozygous for the APP A673V mutation and recently came to death. The brain has been studied by histological and immunohistochemical techniques, at the optical and ultrastructural levels. Cerebral Aβ accumulation and tau pathology were severe and extensive. Peculiar features were the configuration of the Aβ deposits that were of large size, mostly perivascular and exhibited a close correspondence between the pattern elicited by amyloid stainings and the labeling obtained with immunoreagents specific for Aβ40 or Aβ42. Moreover, Aβ deposition spared the neostriatum while deeply affecting the cerebellum, and therefore was not in compliance with the hierarchical topographical sequence of involvement documented in sporadic AD. Therefore, the neuropathological picture of familial AD caused by the APP recessive mutation A673V presents distinctive characteristics compared to sporadic AD or familial AD inherited as a dominant trait. Main peculiar features are the morphology, structural properties and composition of the Aβ deposits as well as their topographic distribution in the brain.
Megan L. Frank
Full Text Available Background/Objective: Physical activity (PA is important in reducing childhood obesity, yet a majority of children are not meeting PA guidelines. Schools have been identified as a place to promote childhood PA. The purpose of this study was to determine the best type of physically active recess period to increase preschool-aged children's PA. Methods: PA was measured via accelerometers in preschool-aged children (n = 29 during three, 30-min recess conditions (control; structured play; free play on separate school days. Tertile splits were performed based on PA during the free play condition and children were divided into three groups: highly, moderately and least active. Results: For the aggregated sample, children were more (p ≤ 0.001 active during the free play (1282 ± 662 counts. min−1 and structured play (1416 ± 448 counts. min−1 recess versus the control condition (570 ± 460 counts. min−1 and activity was not different between the free play and structured conditions. However, children who were the most active during free play (1970 ± 647 counts·min−1 decreased (p ≤ 0.05 activity during structured play (1462 ± 535 counts·min−1, whereas children who were moderately active (1031 ± 112 counts·min−1 or the least (530 ± 239 counts·min−1 active during free play increased activity during structured play (1383 ± 345 counts·min−1 moderately active, 1313 ± 413 counts·min−1 least active. Conclusion: Providing a physically-active recess period will contribute to preschool-aged children meeting the recommended PA guidelines; however, different children may respond in a different way based upon the structure of the recess period.
Chakrabarti, Rajashri; Livingston, Max; Roy, Joydeep
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…
Pawlowski, Charlotte Skau; Schipperijn, Jasper; Tjørnhøj-Thomsen, Tine; Troelsen, Jens
Facilitators and barriers to recess physical activity are not well understood. To date, research on recess physical activity has predominantly focused on quantitative measures typically focusing on a narrow set of predefined factors, often constructed by adults. To really understand the factors affecting recess physical activity it is crucial to…
Ridgers, Nicola D.; Saint-Maurice, Pedro F.; Welk, Gregory J.; Siahpush, Mohammad; Huberty, Jennifer L.
Objective: Little research has investigated children's physical activity levels during school recess and the contribution of recess to school day physical activity levels by weight status. The aims of this study were to examine non-overweight and overweight children's physical activity levels during school recess, and examine the contribution of…
Lagerström-Fermér, M; Sundvall, M; Johnsen, E; Warne, G L; Forrest, S M; Zajac, J D; Rickards, A; Ravine, D; Landegren, U; Pettersson, U
We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary. Images Figure 2 PMID:9106538
Full Text Available The Great Recession was associated with reduced fertility in the United States. Many questions about the dynamics underlying this reduction remain unanswered, however, including whether reduced fertility rates were driven by decreases in intended or unplanned pregnancies. Using restricted data from the 2006–2010 National Survey of Family Growth (N = 4,630, we exploit variation in state economic indicators to assess the impact of economic conditions on the likelihood of an intended pregnancy, an unplanned pregnancy, or no pregnancy for adult women without a college education. We focus on variations by partnership and marital status. Overall, we find that worse economic conditions were predictive of a lower risk of unplanned pregnancy. Women's odds of intended pregnancy did not, however, respond uniformly to economic conditions but varied by marital status. When economic conditions were poor, married women had lower odds of intended pregnancy, whereas cohabiting women had greater odds of intended pregnancy.
Rathmann, Katharina; Pförtner, Timo-Kolja; Elgar, Frank J; Hurrelmann, Klaus; Richter, Matthias
Conflicting evidence has been reported on smoking behavior among adults during times of economic downturn. No study has yet investigated young people's smoking and inequalities in smoking during economic recessions. This study examines the association between country-level youth unemployment due to the economic recession and adolescent smoking and smoking inequalities in Europe. The WHO collaborative "Health Behaviour in School-aged Children" study in 2009/2010 included 15-year-old adolescents from 24 European countries (N = 43 093). Socioeconomic position (SEP) was measured by the Family Affluence Scale. Logistic multilevel models were conducted. The absolute rate of youth unemployment in 2010 (during the recession) and the relative change rate in youth unemployment (2005/2006-2009/2010) were regressed on smoking and SEP inequalities in smoking in 2010, respectively. Youth unemployment rates were not significantly associated with overall smoking in adolescents. A higher absolute youth unemployment rate in 2010 related to lower likelihoods of smoking among middle (OR: 0.99; 95% CI: 0.98-0.99) and low affluent adolescents (OR: 0.99; 95% CI: 0.98-0.99) compared to high affluent adolescents. In contrast, an increase in youth unemployment (2005/2006-2009/2010) was not associated with overall likelihoods of smoking and inequalities in smoking. Our findings indicate that an increase in youth unemployment was not related to smoking and smoking inequalities. However, higher absolute levels of youth unemployment are related to lower likelihoods of smoking in lower SEP adolescents. Thus, smoking among vulnerable groups is more linked to the overall insecure circumstances and the affordability of cigarettes rather than to the economic recession itself. Economic recessions have often led to increases in adult and youth unemployment rates. Conflicting evidence has been reported on smoking behavior among adults during times of economic downturn. This study examines for the first
Gregory, L. C.; Humayun, K. N.; Turton, J. P. G.; McCabe, M. J.; Rhodes, S. J.
Background: LHX4 encodes a member of the LIM-homeodomain family of transcription factors that is required for normal development of the pituitary gland. To date, only incompletely penetrant heterozygous mutations in LHX4 have been described in patients with variable combined pituitary hormone deficiencies. Objective/Hypothesis: To report a unique family with a novel recessive variant in LHX4 associated with a lethal form of congenital hypopituitarism that was identified through screening a total of 97 patients. Method: We screened 97 unrelated patients with combined pituitary hormone deficiency, including 65% with an ectopic posterior pituitary, for variants in the LHX4 gene using Sanger sequencing. Control databases (1000 Genomes, dbSNP, Exome Variant Server, ExAC Browser) were consulted upon identification of variants. Results: We identified the first novel homozygous missense variant (c.377C>T, p.T126M) in two deceased male patients of Pakistani origin with severe panhypopituitarism associated with anterior pituitary aplasia and posterior pituitary ectopia. Both were born small for gestational age with a small phallus, undescended testes, and mid-facial hypoplasia. The parents' first-born child was a female with mid-facial hypoplasia (DNA was unavailable). Despite rapid commencement of hydrocortisone and T4 in the brothers, all three children died within the first week of life. The LHX4(p.T126M) variant is located within the LIM2 domain, in a highly conserved location. The absence of homozygosity for the variant in over 65 000 controls suggests that it is likely to be responsible for the phenotype. Conclusion: We report, for the first time to our knowledge, a novel homozygous mutation in LHX4 associated with a lethal phenotype, implying that recessive mutations in LHX4 may be incompatible with life. PMID:25871839
Full Text Available 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.
Full Text Available Autosomal recessive polycystic kidney disease (ARPKD is a hepatorenal fibrocystic disorder that is characterized by enlarged kidneys with progressive loss of renal function and biliary duct dilatation and congenital hepatic fibrosis that leads to portal hypertension in some patients. Mutations in the PKHD1 gene are the primary cause of ARPKD; however, the disease is genetically not as homogeneous as long thought and mutations in several other cystogenes can phenocopy ARPKD. The family history usually is negative, both for recessive, but also often for dominant disease genes due to de novo arisen mutations or recessive inheritance of variants in genes that usually follow dominant patterns such as the main ADPKD genes PKD1 and PKD2. Considerable progress has been made in the understanding of polycystic kidney disease (PKD. A reduced dosage of disease proteins leads to the disruption of signaling pathways underlying key mechanisms involved in cellular homeostasis, which may help to explain the accelerated and severe clinical progression of disease course in some PKD patients. A comprehensive knowledge of disease-causing genes is essential for counseling and to avoid genetic misdiagnosis, which is particularly important in the prenatal setting (e.g., preimplantation genetic diagnosis/PGD. For ARPKD, there is a strong demand for early and reliable prenatal diagnosis, which is only feasible by molecular genetic analysis. A clear genetic diagnosis is helpful for many families and improves the clinical management of patients. Unnecessary and invasive measures can be avoided and renal and extrarenal comorbidities early be detected in the clinical course. The increasing number of genes that have to be considered benefit from the advances of next-generation sequencing (NGS which allows simultaneous analysis of a large group of genes in a single test at relatively low cost and has become the mainstay for genetic diagnosis. The broad phenotypic and genetic
Full Text Available To identify the molecular basis of non-syndromic autosomal recessive congenital cataracts (arCC in a consanguineous family.All family members participating in the study received a comprehensive ophthalmic examination to determine their ocular phenotype and contributed a blood sample, from which genomic DNA was extracted. Available medical records and interviews with the family were used to compile the medical history of the family. The symptomatic history of the individuals exhibiting cataracts was confirmed by slit-lamp biomicroscopy. A genome-wide linkage analysis was performed to localize the disease interval. The candidate gene, LIM2 (lens intrinsic membrane protein 2, was sequenced bi-directionally to identify the disease-causing mutation. The physical changes caused by the mutation were analyzed in silico through homology modeling, mutation and bioinformatic algorithms, and evolutionary conservation databases. The physiological importance of LIM2 to ocular development was assessed in vivo by real-time expression analysis of Lim2 in a mouse model.Ophthalmic examination confirmed the diagnosis of nuclear cataracts in the affected members of the family; the inheritance pattern and cataract development in early infancy indicated arCC. Genome-wide linkage analysis localized the critical interval to chromosome 19q with a two-point logarithm of odds (LOD score of 3.25. Bidirectional sequencing identified a novel missense mutation, c.233G>A (p.G78D in LIM2. This mutation segregated with the disease phenotype and was absent in 192 ethnically matched control chromosomes. In silico analysis predicted lower hydropathicity and hydrophobicity but higher polarity of the mutant LIM2-encoded protein (MP19 compared to the wild-type. Moreover, these analyses predicted that the mutation would disrupt the secondary structure of a transmembrane domain of MP19. The expression of Lim2, which was detected in the mouse lens as early as embryonic day 15 (E15
Muchie, Mammo; Baskaran, Angethvar
Since the early 1990s China’s economy has emerged one of the leading economies in the world using judicial mix of policies of economic liberalisation and protection. China’s national system of innovation (NSI) has been evolving and has been adapting to the challenges posed the globalisation. China...... China, which was triggered by the global credit crunch and slow down of trade. Major economies across the world have introduced a series of measures in response to recession and to stem the tide of its negative impacts. These measures included: bank bailouts, rescue packages, fiscal stimuli, and, most...... economies in the world due to the differences among their NSIs.In the case of China, to reduce the negative impacts of the global recession, it announced a fiscal stimulus package of $586b (14% of GDP) in November 2008 aimed to stimulate the domestic demand and also to boost the income of the poor...
Mehdi Siamak MONADJEMI
Full Text Available The financial crises of 2007-2008, caused wide-spread falling output and unemployment, in the affected countries and also globally. The severity of the recession was such that it was called the “Great Recession”. As a result of an increase in demand from China and India, at the same time, oil prices rose significantly. The empirical results from this study show that oil price changes negatively affected global growth rate in the 1970s but not in the 1990s and 2000s. These results suggest that the Great Recession in 2008 that initiated by the financial crises, was independent of a significant rise in oil prices.
Chen, Alice; Sasso, Anthony Lo; Richards, Michael R
An extensive literature documents immediate and persistent adverse labor market outcomes for individuals graduating into an economic downturn, but these effects are heterogeneous across sectors, occupations, and skill levels. In particular, the impact of recessions on the labor market outcomes for new physician graduates remains unknown. We leverage a unique dataset on New York physicians to analyze if and how the Great Recession impacted the labor market of physicians who have completed their residency and fellowship training and are seeking their first job. We find that these physicians do not delay labor market entry and their job searches and other employment outcomes are unaffected by the business cycle. The collage of evidence demonstrates that new graduates were largely unfazed by the recent downturn, which sharply contrasts with other highly educated, high remunerating occupations. Copyright © 2017 John Wiley & Sons, Ltd.
Saglam, Dilek; Bilgici, Meltem Ceyhan; Bekci, Tuemay; Albayrak, Canan; Albayrak, Davut
Osteopetrosis is a hereditary form of sclerosing bone dysplasia with various radiological and clinical presentations. The autosomal recessive type, also known as malignant osteopetrosis, is the most severe type, with the early onset of manifestations. A 5-month-old infant was admitted to our hospital with recurrent respiratory tract infections. Chest X-ray and skeletal survey revealed the classic findings of osteopetrosis, including diffuse osteosclerosis and bone within a bone appearance. At follow-up, the patient presented with, thickened calvarium, multiple prominent encephaloceles, and dural calcifications leading to the intracranial clinical manifestations with bilateral hearing and sight loss. Autosomal recessive osteopetrosis is one of the causes of encephaloceles and this finding may become dramatic if untreated. (orig.)
Roberto Moro Visconti
Full Text Available Global recession, started in 2008, is still proving an unresolved perfect storm and the financial crisis has affected also the real economy, creating widespread social unrest. Microfinance institutions (MFIs in developing countries seem however less affected by the worldwide turmoil, due to their segmentation and resilience to external shocks. Recession has a big impact on governance mechanisms, altering the equilibriums among different stakeholders and increasing the risk of investment returns; any governance improvement is highly welcome and recommended. No governance, no money for growth or bare survival. In the confused phase we are living in, at the moment there are not evident winners, but the underbanked poorest, unless properly supported, once again risk being the ultimate losers.
Saglam, Dilek; Bilgici, Meltem Ceyhan; Bekci, Tuemay [Ondokuz Mayis University, Department of Radiology, School of Medicine, Kurupelit, Samsun (Turkey); Albayrak, Canan; Albayrak, Davut [Ondokuz Mayis University, Department of Pediatrics, School of Medicine, Kurupelit, Samsun (Turkey)
Osteopetrosis is a hereditary form of sclerosing bone dysplasia with various radiological and clinical presentations. The autosomal recessive type, also known as malignant osteopetrosis, is the most severe type, with the early onset of manifestations. A 5-month-old infant was admitted to our hospital with recurrent respiratory tract infections. Chest X-ray and skeletal survey revealed the classic findings of osteopetrosis, including diffuse osteosclerosis and bone within a bone appearance. At follow-up, the patient presented with, thickened calvarium, multiple prominent encephaloceles, and dural calcifications leading to the intracranial clinical manifestations with bilateral hearing and sight loss. Autosomal recessive osteopetrosis is one of the causes of encephaloceles and this finding may become dramatic if untreated. (orig.)
Gould, Elise; Hertel-Fernandez, Alexander
This paper examines recent trends in health insurance cost and coverage for the near-elderly population (aged 55 to 64), with particular attention directed toward the implications of the 2007 recession. We examine coverage by demographic and socioeconomic characteristics from the Current Population Survey and the Medical Expenditure Panel Survey. We also estimate the effects of projected increases in the unemployment rate for employer-sponsored insurance coverage of the near elderly in 2009 and 2010. Erosion in coverage is likely to be exacerbated in the short run by the 2007 recession, given rapidly rising unemployment among this age cohort, and in the long-run, given the inability of the labor market to support increased labor market participation of older Americans in jobs that would have traditionally provided health insurance coverage.
Full Text Available This article considers representations of melancholia in post-Celtic Tiger Irish literature. By situating their post-recession fictions in “ghost estates,” or largely uninhabited housing developments, Donal Ryan and Tana French present neoliberally-inflected varieties of melancholia for their contemporary readers to contemplate. The settings of the ghost estates – and the accompanying supernatural elements to the texts – call to mind ghosts of Ireland’s past and legacies of recent economically unsound policies, spurring the reader to think about the imagined loss of futurity that accompanied the Irish economic crash. “Ghost stories for ghost estates,” then, represent an important contribution to the growing field of post-recession Irish literature.
Jabakhanji, Samira Barbara; Pavlova, Milena; Groot, Wim; Boland, Fiona; Biesma, Regien
Many studies have reported a social class gradient within overweight prevalence ( 1-4 ). Additionally, cross-country comparisons report high overweight trends and a change in food consumption patterns in countries affected by an economic crisis ( 5-11 ). The aim of this study was to assess the association between social class and recession on obesity levels in 3-year-old Irish children. The population-based infant cohort of the national Growing Up in Ireland (GUI) study was used. Prevalence rates of overweight and obesity were calculated and logistic regression models, adjusting for confounders, were used to examine the relationship between social class, effects of the recession and childhood obesity. In 2008, 19.5% of 9-month-olds were obese and 19.4% overweight increasing to 22.7% and 20.4%, respectively by 2011 when the infants were 3 years old (World Health Organization (WHO) criteria). The prevalence of obesity increased by 2.3% to 10.1% for various social classes (unadjusted). However, adjusting for confounders, there was no evidence of a difference in obesity of 3-year-old children across social classes. There was evidence that obesity was 22-27% higher for families who perceived a very significant crisis effect on their family, compared with those significantly affected. Increases in obesity were found to be significantly associated with perceived recession effects on the family, but not with social class. Policy makers should be aware that in times of economic downturn, public health efforts to promote healthy weight are needed at a population level rather than for specific social classes. © The Author 2017. Published by Oxford University Press on behalf of the European Public Health Association. All rights reserved.
Chen, Edith; Miller, Gregory E; Yu, Tianyi; Brody, Gene H
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. Copyright © 2015 Elsevier Inc. All rights reserved.
Althouse, Benjamin M; Allem, Jon-Patrick; Childers, Matthew A; Dredze, Mark; Ayers, John W
Associations between economic conditions and health are usually derived from cost-intensive surveys that are intermittently collected with nonspecific measures (i.e., self-rated health). This study identified how precise health concerns changed during the U.S. Great Recession analyzing Google search queries to identify the concern by the query content and their prevalence by the query volume. Excess health concerns were estimated during the Great Recession (December 2008 through 2011) by comparing the cumulative difference between observed and expected (based on linear projections from pre-existing trends) query volume for hundreds of individual terms. As performed in 2013, the 100 queries with the greatest excess were ranked and then clustered into themes based on query content. The specific queries with the greatest relative excess were stomach ulcer symptoms and headache symptoms, respectively, 228% (95% CI=35, 363) and 193% (95% CI=60, 275) greater than expected. Queries typically involved symptomology (i.e., gas symptoms) and diagnostics (i.e., heart monitor) naturally coalescing into themes. Among top themes, headache queries were 41% (95% CI=3, 148); hernia 37% (95% CI=16, 142); chest pain 35% (95% CI=6, 313); and arrhythmia 32% (95% CI=3, 149) greater than expected. Pain was common with back, gastric, joint, and tooth foci, with the latter 19% (95% CI=4, 46) higher. Among just the top 100, there were roughly 205 million excess health concern queries during the Great Recession. Google queries indicate that the Great Recession coincided with substantial increases in health concerns, hinting at how population health specifically changed during that time. © 2013 Published by American Journal of Preventive Medicine on behalf of American Journal of Preventive Medicine.
This study aims to find out the role of macroeconomic fundamentals in Malaysian post recession growth. The selected macroeconomic variables are exports, imports, price level, money supply, interest rate, exchange rate and government expenditure. The technique of cointegration was employed to assess the long run equilibrium relationships among the variables. Then, this study performs the Granger causality tests based on VECM to establish the short run causality among the variables. The long-ru...
Bank for International Settlements
The 12th BIS Annual Conference took place in Lucerne, Switzerland on 20-21 June 2013. The event brought together a distinguished group of central bank governors, leading academics and former public officials to exchange views on the conference theme of "Navigating the Great Recession: what role for monetary policy?". This volume contains the opening address by Stephen Cecchetti (former Economic Adviser, BIS), a keynote address by Finn Kydland (University of California, Santa Barbara) and the ...
Fee, Kyle; Schweitzer, Mark E.
Economists have been arguing about the connection between unemployment and infl ation for decades. Critics claim that the connection is unreliable and leads policymakers astray, while others argue that the relationship is useful for forecasting. We examine the more direct connections between elevated unemployment levels and the rate of increase in wage and labor costs, more generally. We fi nd that wage and labor cost growth has declined markedly following recent recessions. It has again decl...
Hoeve, Hans L J; Brooks, Alice S; Smit, Liesbeth S
We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
Nakazawa, M; Wada, Y; Tamai, M
To assess the clinical and molecular genetic studies of patients with autosomal recessive retinitis pigmentosa associated with a mutation in the arrestin gene. Results of molecular genetic screening and case reports with DNA analysis and clinical features. University medical center. One hundred twenty anamnestically unrelated patients with autosomal recessive retinitis pigmentosa. DNA analysis was performed by single strand conformation polymorphism followed by nucleotide sequencing to search for a mutation in exon 11 of the arrestin gene. Clinical features were characterized by visual acuity slitlamp biomicroscopy, fundus examinations, fluorescein angiography, kinetic visual field testing, and electroretinography. We identified 3 unrelated patients with retinitis pigmentosa associated with a homozygous 1-base-pair deletion mutation in codon 309 of the arrestin gene designated as 1147delA. All 3 patients showed pigmentary retinal degeneration in the midperipheral area with or without macular involvement. Patient 1 had a sibling with Oguchi disease associated with the same mutation. Patient 2 demonstrated pigmentary retinal degeneration associated with a golden-yellow reflex in the peripheral fundus. Patients 1 and 3 showed features of retinitis pigmentosa without the golden-yellow fundus reflex. Although the arrestin 1147delA has been known as a frequent cause of Oguchi disease, this mutation also may be related to the pathogenesis of autosomal recessive retinitis pigmentosa. This phenomenon may provide evidence of variable expressivity of the mutation in the arrestin gene.
Full Text Available Background: The paper gives an update to earlier analysis considering youth poverty and transition to adulthood, which is timely given the economic crisis engulfing many countries in Europe. Whereas the crisis is affecting young people in particular, there is also a certain degree of variation across Europe. Objective: We document the short-term consequences of the current recession on the transition to adulthood of young Europeans, focusing on two main cornerstones in the transition to adulthood: economic independence and residential autonomy. Methods: We use a combination of OECD Employment Statistics for 2012 and micro-level data from the European Union Statistics on Income and Living Conditions (EU-SILC for the period 2005-2011 for 24 countries. Results: We document an increase in economic hardship experienced by young adults in several European countries during the recession, which is starting to translate into higher rates of co-residence with parents, hence delaying the process of leaving home and gaining economic independence. Conclusions: The way countries are reacting to the recession is not yet clear-cut, but economic uncertainty and deprivation is on the rise in those countries hardest hit, which is likely to delay the key markers of transition to adulthood.
Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S
Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.
Harendra de Silva, D G; de Silva, D B
Norrie's disease, a congenital progressive oculo-acoustico-cerebral degenerative condition, is a sex linked recessive disorder. Previously described as atrophia oculi congeneti, it is associated with bilateral pseudotumour of the retina, lens, and corneal opacities, and phthisis bulbi. Some patients develop progressive deterioration of mental function and hearing. We report a Sri Lankan family with typical features of Norrie's disease.
Eidinger, Osnat; Leibu, Rina; Newman, Hadas; Rizel, Leah; Perlman, Ido; Ben-Yosef, Tamar
To investigate the genetic basis for autosomal recessive cone-rod dystrophy (CRD) in a consanguineous Israeli Jewish family. Patients underwent a detailed ophthalmic evaluation, including eye examination, visual field testing, optical coherence tomography (OCT), and electrophysiological tests, electroretinography (ERG) and visual evoked potential (VEP). Genome-wide homozygosity mapping using a single nucleotide polymorphism (SNP) array was performed to identify homozygous regions shared among two of the affected individuals. Mutation screening of the underlying gene was performed with direct sequencing. In silico and in vitro analyses were used to predict the effect of the identified mutation on splicing. The affected family members are three siblings who have various degrees of progressive visual deterioration, glare, color vision abnormalities, and night vision difficulties. Visual field tests revealed central scotomas of different extension. Cone and rod ERG responses were reduced, with cones more severely affected. Homozygosity mapping revealed several homozygous intervals shared among two of the affected individuals. One included the PROM1 gene. Sequence analysis of the 26 coding exons of PROM1 in one affected individual revealed no mutations in the coding sequence or in intronic splice sites. However, in intron 21, proximate to the intron-exon junction, we observed a homozygous 10 bp deletion between positions -26 and -17 (c.2281-26_-17del). The deletion was linked to a known SNP, c.2281-6C>G. The deletion cosegregated with the disease in the family, and was not detected in public databases or in 101 ethnically-matched control individuals. In silico analysis predicted that this deletion would lead to altered intron 21 splicing. Bioinformatic analysis predicted that a recognition site for the SRSF2 splicing factor is located within the deleted sequence. The in vitro splicing assay demonstrated that c.2281-26_-17del leads to complete exon 22 skipping. A novel
Disertori, Marcello; Quintarelli, Silvia; Grasso, Maurizia; Pilotto, Andrea; Narula, Nupoor; Favalli, Valentina; Canclini, Camilla; Diegoli, Marta; Mazzola, Silvia; Marini, Massimiliano; Del Greco, Maurizio; Bonmassari, Roberto; Masè, Michela; Ravelli, Flavia; Specchia, Claudia; Arbustini, Eloisa
Atrial dilatation and atrial standstill are etiologically heterogeneous phenotypes with poorly defined nosology. In 1983, we described 8-years follow-up of atrial dilatation with standstill evolution in 8 patients from 3 families. We later identified 5 additional patients with identical phenotypes: 1 member of the largest original family and 4 unrelated to the 3 original families. All families are from the same geographic area in Northeast Italy. We followed up the 13 patients for up to 37 years, extended the clinical investigation and monitoring to living relatives, and investigated the genetic basis of the disease. The disease was characterized by: (1) clinical onset in adulthood; (2) biatrial dilatation up to giant size; (3) early supraventricular arrhythmias with progressive loss of atrial electric activity to atrial standstill; (4) thromboembolic complications; and (5) stable, normal left ventricular function and New York Heart Association functional class during the long-term course of the disease. By linkage analysis, we mapped a locus at 1p36.22 containing the Natriuretic Peptide Precursor A gene. By sequencing Natriuretic Peptide Precursor A, we identified a homozygous missense mutation (p.Arg150Gln) in all living affected individuals of the 6 families. All patients showed low serum levels of atrial natriuretic peptide. Heterozygous mutation carriers were healthy and demonstrated normal levels of atrial natriuretic peptide. Autosomal recessive atrial dilated cardiomyopathy is a rare disease associated with homozygous mutation of the Natriuretic Peptide Precursor A gene and characterized by extreme atrial dilatation with standstill evolution, thromboembolic risk, preserved left ventricular function, and severely decreased levels of atrial natriuretic peptide.
Home; Journals; Journal of Genetics; Volume 81; Issue 2 ... Perspectives Volume 81 Issue 2 August 2002 pp 59-63 ... disease locus in families with the recessive form of the disease, we used the approach of screening for homozygosity by descent in offspring of consanguineous and nonconsanguineous families with RP.
Lorsheyd, Anouk; Cramer, Maarten-Jan M.; Velthuis, Birgitta K.; Vonken, Evert-Jan P.; van der Smagt, Jasper; van Tintelen, Peter; Hauer, Richard N. W.
Background and aims: Isolated left ventricular non-compaction cardiomyopathy (LVNC) may have an autosomal dominant or X-linked recessive inheritance. We focus on the familial occurrence of LVNC after misdiagnosing this disorder in symptomatic patients in two families. After identification of the
Full Text Available Groundwater has received increasing attention as an important strategic water resource for adaptation to climate change. In this regard, the separation of baseflow from streamflow and the analysis of recession curves make a significant contribution to integrated river basin management. The United States Geological Survey (USGS RECESS model adopting the master-recession curve (MRC method can enhance the accuracy with which baseflow may be separated from streamflow, compared to other baseflow-separation schemes that are more limited in their ability to reflect various watershed/aquifer characteristics. The RECESS model has been widely used for the analysis of hydrographs, but the applications using RECESS were only available through Microsoft-Disk Operating System (MS-DOS. Thus, this study aims to develop a web-based RECESS model for easy separation of baseflow from streamflow, with easy applications for ungauged regions. RECESS on the web derived the alpha factor, which is a baseflow recession constant in the Soil Water Assessment Tool (SWAT, and this variable was provided to SWAT as the input. The results showed that the alpha factor estimated from the web-based RECESS model improved the predictions of streamflow and recession. Furthermore, these findings showed that the baseflow characteristics of the ungauged watersheds were influenced by the land use and slope angle of watersheds, as well as by precipitation and streamflow.
Full Text Available The present paper proposes a theoretical analysis of the performance of deep/shallow recessed hybrid bearing. It is intended that, on the basis of the numerical results drawn from this study, appropriate shallow recess depth and width can be determined for use in the bearing design process. By adopting bulk flow theory, the turbulent Reynolds equation and energy equation are modified and solved numerically including concentrated inertia effects at the recess edge with different depth and width of shallow recess. The results indicate that the load capacity, drag torque increases as the depth of shallow recess is shallower and the width ratio (half angle of deep recess versus half angle of shallow recess is smaller. In contrast, the flow rate decreases as the depth of shallow recess is shallower and the width ratio is smaller. Nevertheless, the appropriate design of the depth and width of shallow recess might well induce the performance of high-speed deep/shallow recessed hybrid bearing.
Gharabaghi, Davoud; Zanjani, Leila Kazemi
According to the literature, accommodative esotropia has an unpredictable course when nonsurgical treatment is considered, especially in cases with a high accommodative convergence/accommodation ratio (AC/A). The aim of this study was to compare the results of augmented recession, slanted recession, and recession with posterior fixation suture of the medial rectus muscles in the treatment of high AC/A esotropia. Twenty-eight children (4 to 14 years old) with high AC/A esotropia with a near-distance disparity greater than 10 PD were included in a prospective, randomized, blinded clinical trial. Nine children underwent recession of both medial rectus muscles and posterior fixation suture (Faden procedure), 9 children underwent augmented recession of the medial rectus muscles, and 10 children underwent slanted recession of both medial rectus muscles. The amount of esodeviation was measured before strabismus surgery and at least 6 months postoperatively. In the augmented recession group, the mean near-distance disparity was reduced from 16.33 +/- 2.17 PD preoperatively to 7.55 +/- 3.87 PD postoperatively (54.21%; P = .056). In the Faden procedure group, it was reduced from 15.22 +/- 4.08 PD to 2.55 +/- 4.03 PD (80.7%; P = .056). In the slanted recession group, it was reduced from 15.50 +/- 4.30 PD to 4.10 +/- 4.80 PD (67.55%; P = .056). The Faden procedure had the best outcome, but slanted recession also was successful. Because of our good results and an easy, non-invasive approach without any additional complications, we recommend slanted recession to treat high AC/A esotropia.
Song, Y; Zhao, D; Xu, X; Lv, F; Li, L; Jiang, Y; Wang, O; Xia, W; Xing, X; Li, M
We identified novel compound heterozygous mutations in SERPINH1 in a Chinese boy suffering from recurrent fractures, femoral deformities, and growth retardation, which resulted in extremely rare autosomal recessive OI type X. Long-term treatment of BPs was effective in increasing BMD Z-score, reducing fracture incidence and reshaping vertebrae compression. Osteogenesis imperfecta (OI) is a heritable bone disorder characterized by low bone mineral density, recurrent fractures, and progressive bone deformities. Mutation in serpin peptidase inhibitor clade H, member 1 (SERPINH1), which encodes heat shock protein 47 (HSP47), leads to rare autosomal recessive OI type X. We aimed to detect the phenotype and the pathogenic mutation of OI type X in a boy from a non-consanguineous Chinese family. We investigated the pathogenic mutations and analyzed their relationship with the phenotype in the patient using next-generation sequencing (NGS) and Sanger sequencing. Moreover, the efficacy of long-term bisphosphonate treatment in this patient was evaluated. The patient suffered from multiple fractures, low bone mass, and bone deformities in the femur, without dentinogenesis imperfecta or hearing loss. Compound heterozygous variants were found in SERPINH1 as follows: c.149 T>G in exon 2 and c.1214G>A in exon 5. His parents were heterozygous carriers of each of these mutations, respectively. Bisphosphonates could be helpful in increasing BMD Z-score, reducing bone fracture risk and reshaping the compressed vertebral bodies of this patient. We reported novel compound heterozygous mutations in SERPINH1 in a Chinese OI patient for the first time, which expanded the spectrum of phenotype and genotype of extremely rare OI type X.
Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of mental retardation. In MCPH patients, brain size reduced to almost one-third of its original volume due to reduced number of generated cerebral cortical neurons during embryonic neurogensis. So far, seven genetic loci (MCPH1-7) for this condition have been mapped with seven corresponding genes (MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, and STIL) identified from different world populations. Contribution of ASPM and WDR62 gene mutations in MCPH World wide is more than 50%. By and large, primary microcephaly patients are phenotypically indistinguishable, however, recent studies in patients with mutations in MCPH1, WDR62 and ASPM genes showed a broader clinical and/or cellular phenotype. It has been proposed that mutations in MCPH genes can cause the disease phenotype by disturbing: 1) orientation of mitotic spindles, 2) chromosome condensation mechanism during embryonic neurogenesis, 3) DNA damage-response signaling, 4) transcriptional regulations and microtubule dynamics, 5) certain unknown centrosomal mechanisms that control the number of neurons generated by neural precursor cells. Recent discoveries of mammalian models for MCPH have open up horizons for researchers to add more knowledge regarding the etiology and pathophysiology of MCPH. High incidence of MCPH in Pakistani population reflects the most probable involvement of consanguinity. Genetic counseling and clinical management through carrier detection/prenatal diagnosis in MCPH families can help reducing the incidence of this autosomal recessive disorder. PMID:21668957
Krieger, Lloyd M
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.
A labor market tautology says that any change in labor usage can be decomposed into a movement along a marginal productivity schedule and a shift of the schedule. I calculate this decomposition for the recession of 2008, assuming an aggregate Cobb-Douglas marginal productivity schedule, and find that all of the decline in employment and hours since December 2007 is a movement along the schedule. This finding suggests that a reduction in labor supply and/or an increase in labor market distorti...
Savige, Judith; Storey, Helen; Il Cheong, Hae
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published...... COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. It also determined genotype-phenotype correlations for variants where clinical data were available. Individuals were referred for genetic testing where Alport syndrome was suspected clinically or on biopsy (renal failure, hearing loss...
Drury, Suzanne; Mason, Sarah; McKay, Fiona; Lo, Kitty; Boustred, Christopher; Jenkins, Lucy; Chitty, Lyn S
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches. Validation and diagnostic implementation for NIPD of congenital adrenal hyperplasia (CAH) is further complicated by presence of a pseudogene that requires a different approach. We have used an assay targeting approximately 6700 heterozygous SNPs around the CAH gene (CYP21A2) to construct the high-risk parental haplotypes and tested this approach in five cases, showing that inheritance of the parental alleles can be correctly identified using NIPD. We are evaluating various measures of the fetal fraction to help determine inheritance of parental mutations. We are currently exploring the utility of an NIPD multi-disorder panel for autosomal recessive disease, to make testing more widely applicable to families with a variety of serious genetic conditions.
Sızmaz, Selçuk; Yonekawa, Yoshihiro; T Trese, Michael
Familial exudative vitreoretinopathy (FEVR) is a hereditary disease associated with visual loss, particularly in the pediatric group. Mutations in the NDP, FZD4, LRP5, and TSPAN12 genes have been shown to contribute to FEVR. FEVR has been reported to have X-linked recessive, autosomal dominant, and autosomal recessive inheritances. However, both the genotypic and phenotypic features are variable. Novel mutations contributing to the disease have been reported. The earliest and the most prominent finding of the disease is avascularity in the peripheral retina. As the disease progresses, retinal neovascularization, subretinal exudation, partial and total retinal detachment may occur, which may be associated with certain mutations. With early diagnosis and prompt management visual loss can be prevented with laser photocoagulation and anti-VEGF injections. In case of retinal detachment, pars plana vitrectomy alone or combined with scleral buckling should be considered. Identifying asymptomatic family members with various degrees of insidious findings is of certain importance. Wide-field imaging with fluorescein angiography is crucial in the management of this disease. The differential diagnosis includes other pediatric vitreoretinopathies such as Norrie disease, retinopathy of prematurity, and Coats' disease.
Full Text Available Familial exudative vitreoretinopathy (FEVR is a hereditary disease associated with visual loss, particularly in the pediatric group. Mutations in the NDP, FZD4, LRP5, and TSPAN12 genes have been shown to contribute to FEVR. FEVR has been reported to have X-linked recessive, autosomal dominant, and autosomal recessive inheritances. However, both the genotypic and phenotypic features are variable. Novel mutations contributing to the disease have been reported. The earliest and the most prominent finding of the disease is avascularity in the peripheral retina. As the disease progresses, retinal neovascularization, subretinal exudation, partial and total retinal detachment may occur, which may be associated with certain mutations. With early diagnosis and prompt management visual loss can be prevented with laser photocoagulation and anti-VEGF injections. In case of retinal detachment, pars plana vitrectomy alone or combined with scleral buckling should be considered. Identifying asymptomatic family members with various degrees of insidious findings is of certain importance. Wide-field imaging with fluorescein angiography is crucial in the management of this disease. The differential diagnosis includes other pediatric vitreoretinopathies such as Norrie disease, retinopathy of prematurity, and Coats’ disease. (Turk J Ophthalmol 2015; 45: 164-168
Irum, Bushra; Khan, Shahid Y; Ali, Muhammad; Daud, Muhammad; Kabir, Firoz; Rauf, Bushra; Fatima, Fareeha; Iqbal, Hira; Khan, Arif O; Al Obaisi, Saif; Naeem, Muhammad Asif; Nasir, Idrees A; Khan, Shaheen N; Husnain, Tayyab; Riazuddin, Sheikh; Akram, Javed; Eghrari, Allen O; Riazuddin, S Amer
The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree. All participating individuals underwent a detailed ophthalmic examination. Each patient's medical history, particularly of cataracts and other ocular abnormalities, was compiled from available medical records and interviews with family elders. Blood samples were donated by all participating family members and used to extract genomic DNA. Genetic analysis was performed to rule out linkage to known arCC loci and genes. Whole-exome sequencing libraries were prepared and paired-end sequenced. A large deletion was found that segregated with arCC in the family, and chromosome walking was conducted to estimate the proximal and distal boundaries of the deletion mutation. Exclusion and linkage analysis suggested linkage to a region of chromosome 6p24 harboring GCNT2 (glucosaminyl (N-acetyl) transferase 2) with a two-point logarithm of odds score of 5.78. PCR amplifications of the coding exons of GCNT2 failed in individuals with arCC, and whole-exome data analysis revealed a large deletion on chromosome 6p in the region harboring GCNT2. Chromosomal walking using multiple primer pairs delineated the extent of the deletion to approximately 190 kb. Interestingly, a failure to amplify a junctional fragment of the deletion break strongly suggests an insertion in addition to the large deletion. Here, we report a novel insertion/deletion mutation at the GCNT2 locus that is responsible for congenital cataracts in a large consanguineous family.
Lam, Byron L; Züchner, Stephan L; Dallman, Julia; Wen, Rong; Alfonso, Eduardo C; Vance, Jeffery M; Peričak-Vance, Margaret A
A single-nucleotide mutation in the gene that encodes DHDDS has been identified by whole exome sequencing as the cause of the non-syndromic recessive retinitis pigmentosa (RP) in a family of Ashkenazi Jewish origin in which three of the four siblings have early onset retinal degeneration. The peripheral retinal degeneration in the affected siblings was evident in the initial examination in 1992 and only one had detectable electroretinogram (ERG) that suggested cone-rod dysfunction. The pigmentary retinal degeneration subsequently progressed rapidly. The identified mutation changes the highly conserved residue Lys42 to Glu, resulting in lower catalytic efficiency. Patterns of plasma transferrin isoelectric focusing gel were normal in all family members, indicating no significant abnormality in protein glycosylation. Dolichols have been shown to influence the fluidity and of the membrane and promote vesicle fusion. Considering that photoreceptor outer segments contain stacks of membrane discs, we believe that the mutation may lead to low dolichol levels in photoreceptor outer segments, resulting in unstable membrane structure that leads to photoreceptor degeneration.
Iqbal, Zafar; Püttmann, Lucia; Musante, Luciana; Razzaq, Attia; Zahoor, Muhammad Yasir; Hu, Hao; Wienker, Thomas F; Garshasbi, Masoud; Fattahi, Zohreh; Gilissen, Christian; Vissers, Lisenka E L M; de Brouwer, Arjan P M; Veltman, Joris A; Pfundt, Rolph; Najmabadi, Hossein; Ropers, Hans-Hilger; Riazuddin, Sheikh; Kahrizi, Kimia; van Bokhoven, Hans
AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins, which catalyze the ligation of amino acids to their cognate tRNA isoacceptors for use in protein translation. To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative disorder. Here, we present two consanguineous families from Pakistan and Iran, presenting with moderate to severe intellectual disability, global developmental delay, and speech impairment without neurodegeneration. By the combination of homozygosity mapping and next generation sequencing, we identified two homozygous missense variants, p.(Gly299Arg) and p.(Val176Gly), in the gene AIMP1 that co-segregated with the phenotype in the respective families. Molecular modeling of the variants revealed deleterious effects on the protein structure that are predicted to result in reduced AIMP1 function. Our findings indicate that the clinical spectrum for AIMP1 defects is broader than witnessed so far.
Iqbal, Zafar; Püttmann, Lucia; Musante, Luciana; Razzaq, Attia; Zahoor, Muhammad Yasir; Hu, Hao; Wienker, Thomas F; Garshasbi, Masoud; Fattahi, Zohreh; Gilissen, Christian; Vissers, Lisenka ELM; de Brouwer, Arjan PM; Veltman, Joris A; Pfundt, Rolph; Najmabadi, Hossein; Ropers, Hans-Hilger; Riazuddin, Sheikh; Kahrizi, Kimia; van Bokhoven, Hans
AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins, which catalyze the ligation of amino acids to their cognate tRNA isoacceptors for use in protein translation. To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative disorder. Here, we present two consanguineous families from Pakistan and Iran, presenting with moderate to severe intellectual disability, global developmental delay, and speech impairment without neurodegeneration. By the combination of homozygosity mapping and next generation sequencing, we identified two homozygous missense variants, p.(Gly299Arg) and p.(Val176Gly), in the gene AIMP1 that co-segregated with the phenotype in the respective families. Molecular modeling of the variants revealed deleterious effects on the protein structure that are predicted to result in reduced AIMP1 function. Our findings indicate that the clinical spectrum for AIMP1 defects is broader than witnessed so far. PMID:26173967
Li, Xiaoxiao; Orseth, Meredith Lee; Smith, J Michael; Brehm, Mary Abigail; Agim, Nnenna Gebechi; Glass, Donald Alexander
Pure hair and nail ectodermal dysplasia (PHNED) is a rare disorder that presents with hypotrichosis and nail dystrophy while sparing other ectodermal structures such as teeth and sweat glands. We describe a homozygous novel missense mutation in the HOXC13 gene that resulted in autosomal recessive PHNED in a Hispanic child. The mutation c.812A>G (p.Gln271Arg) is located within the DNA-binding domain of the HOXC13 gene, cosegregates within the family, and is predicted to be maximally damaging. This is the first reported case of a missense HOXC13 mutation resulting in PHNED and the first reported case of PHNED identified in a North American family. Our findings illustrate the critical role of HOXC13 in human hair and nail development. © 2017 Wiley Periodicals, Inc.
Background A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affected individuals of a consanguineous Pakistani family exhibiting features of neuro-ichthyotic disorder. Methods Linkage in the family was searched by genotyping microsatellite markers linked to the gene ELOVL4, mapped at chromosome 6p14.1. Exons and splice junction sites of the gene ELOVL4 were polymerase chain reaction amplified and sequenced in an automated DNA sequencer. Results DNA sequence analysis revealed a novel homozygous nonsense mutation (c.78C > G; p.Tyr26*). Conclusions Our report further confirms the recently described ELOVL4-related neuro-ichthyosis and shows that the neurological phenotype can be absent in some individuals. PMID:24571530
Grau, Tanja; Artemyev, Nikolai O; Rosenberg, Thomas
study on PDE6C mutations including the mutation spectrum, its prevalence in a large cohort of ACHM/cone dysfunction patients, the clinical phenotype and the functional characterization of mutant PDE6C proteins. Twelve affected patients from seven independent families segregating PDE6C mutations were......Mutations in the gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase (PDE6C) have been recently reported in patients with autosomal recessive inherited achromatopsia (ACHM) and early-onset cone photoreceptor dysfunction. Here we present the results of a comprehensive...... identified in our total patient cohort of 492 independent families. Eleven different PDE6C mutations were found including two nonsense mutations, three mutations affecting transcript splicing as shown by minigene assays, one 1 bp-insertion and five missense mutations. We also performed a detailed functional...
I empirically analyze the dynamics of business investment following normal recessions (declines in business investment that are not associated with banking crises) and banking crises. Using a panel of 16 advanced economies, I find evidence for significant non-linear trend reversion or bounce-back effects on the level of business investment following normal recessions, i.e., the deeper the previous recession was, the higher the growth rate of business investment will be. The trend reversion ef...
Lei Wang; Shuyun Jiang
The present paper proposes a theoretical analysis of the performance of deep/shallow recessed hybrid bearing. It is intended that, on the basis of the numerical results drawn from this study, appropriate shallow recess depth and width can be determined for use in the bearing design process. By adopting bulk flow theory, the turbulent Reynolds equation and energy equation are modified and solved numerically including concentrated inertia effects at the recess edge with different depth and widt...
Full Text Available Familial Mediterranean Fever is an autosomal recessive inherited disease with a course of autoinflammation, which is characterized by the episodes of fever and serositis. It affects the populations from Mediterranean basin. Genetic mutation of the disease is on MEFV gene located on short arm of Chromosome 16. The disease is diagnosed based on clinical evaluation. Amyloidosis is the most important complication. The only agent that decreases the development of amyloidosis and the frequency and severity of the episodes is colchicine, which has been used for about 40 years. In this review, we aimed to discuss especially the most recent advances about Familial Mediterranean Fever which is commonly seen in our population.
O'Riordan, M; Fitzpatrick, F
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. Copyright © 2015 The Healthcare Infection Society. Published by Elsevier Ltd. All rights reserved.
Chourabi, Marwa; Liew, Mei Shan; Lim, Shawn; H'mida-Ben Brahim, Dorra; Boussofara, Lobna; Dai, Liang; Wong, Pui Mun; Foo, Jia Nee; Sriha, Badreddine; Robinson, Kim Samirah; Denil, Simon; Common, John Ea; Mamaï, Ons; Ben Khalifa, Youcef; Bollen, Mathieu; Liu, Jianjun; Denguezli, Mohamed; Bonnard, Carine; Saad, Ali; Reversade, Bruno
Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance. In this study, we investigated eight patients affected with an overlapping genodermatosis after recessive inheritance. The patients presented with hypo- and hyperpigmented macules over the body, resembling dyschromatosis universalis hereditaria in addition to punctuate palmoplantar keratosis. By homozygosity mapping and whole-exome sequencing, a biallelic p.Cys120Arg mutation in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) was identified in all patients. We found that this mutation, like those causing dominant Cole disease, impairs homodimerization of the ENPP1 enzyme that is mediated by its two somatomedin-B-like domains. Histological analysis revealed structural and molecular changes in affected skin that were likely to originate from defective melanocytes because keratinocytes do not express ENPP1. Consistently, RNA-sequencing analysis of patient-derived primary melanocytes revealed alterations in melanocyte development and in pigmentation signaling pathways. We therefore conclude that germline ENPP1 cysteine-specific mutations, primarily affecting the melanocyte lineage, cause a clinical spectrum of dyschromatosis, in which the p.Cys120Arg allele represents a recessive and more severe form of Cole disease. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.
van der Wel, Kjetil A; Saltkjel, Therese; Chen, Wen-Hao; Dahl, Espen; Halvorsen, Knut
This paper investigates the association between the Great Recession and educational inequalities in self-rated general health in 25 European countries. We investigate four different indicators related to economic recession: GDP; unemployment; austerity and a 'crisis' indicator signifying severe simultaneous drops in GDP and welfare generosity. We also assess the extent to which health inequality changes can be attributed to changes in the economic conditions and social capital in the European populations. The paper uses data from the European Social Survey (2002-2014). The analyses include both cross-sectional and lagged associations using multilevel linear regression models with country fixed effects. This approach allows us to identify health inequality changes net of all time-invariant differences between countries. GDP drops and increasing unemployment were associated with decreasing health inequalities. Austerity, however, was related to increasing health inequalities, an association that grew stronger with time. The strongest increase in health inequality was found for the more robust 'crisis' indicator. Changes in trust, social relationships and in the experience of economic hardship of the populations accounted for much of the increase in health inequality. The paper concludes that social policy has an important role in the development of health inequalities, particularly during times of economic crisis. © 2018 The Authors. Sociology of Health & Illness published by John Wiley & Sons Ltd on behalf of Foundation for SHIL.
Elcioglu, Nursel H.; Gustavson, Karl H.; Wilkie, Andrew O.M.; Yueksel-Apak, Memune; Spranger, Juergen W.
Autosomal recessive omodysplasia (MIM 258315) is a rare skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Fewer than 20 cases have been reported in the literature so far. The purpose of this study was to more clearly describe the clinical and radiographic phenotypes and their changes with age. Five new patients, including two sibs, with autosomal recessive omodysplasia are presented. Clinical features are rhizomelic dwarfism with limited extension of elbows and knees and a distinct face with a short nose, depressed nasal bridge, long philtrum, midline haemangiomas in infants and cryptorchidism in males. Radiological findings are distal hypoplasia of the short humerus and femur with characteristic radial dislocation and radioulnar diastasis. Based on a review of these and 16 previously reported patients, the regressive nature of the humerofemoral changes and the obvious male predominance are stressed. Phenotypic similarities with the atelosteogenesis group of disorders and with diastrophic dysplasia suggest common pathogenetic mechanisms. (orig.)
Crude oil prices fell dramatically during the fourth quarter of 1992. Refiners are reevaluating their positions to adjust to low demand growth worldwide. The only bright spot appears to be the United States' emergence from its economic recession. However, Japan and Germany are experiencing their own economic recessions, and crude oil supplies show no sign of tightening. Crude oil futures prices have fallen by more than 15% as of January 8, 1993 compared to October 1, 1992. Although the American Petroleum Institute (API) found increases in oil demand during October and November 1992, the increases are attributed to colder weather and the weak 1991 demand that was used for comparison. This issue identifies current factors at work affecting U.S. refining margins and product values, and offers a first quarter 1993 outlook. All data featured in graphs and text come from the Energy detente Refinery Netback Data Series published in each issue, in which gasoline and diesel No. 2 are Lundberg Survey unbranded racks instead of spot quotations. Margins are apparent deltas only and do not reflect actual profits for any individual operation
Chandler, D. G.; Daley, M.; Kasaee Roodsari, B.; Shaw, S. B.; McNamara, J.
Large scale operational hydrologic models should be capable of predicting seasonally low flow and stream intermittency as well as peak flow and inundation. We contrast examples of controls on low flow exerted by geomorphic and climatic setting at small catchment study sites in the Northeast and Northwest of the USA to indicate differences in hydrologic processes. Both regions accumulate winter snowpack and have an extended spring freshet, but the Reynolds Creek CZO and Dry Creek Experimental Watershed (both in Idaho mountains) experience a protracted summer drought, with occasional storms whereas precipitation free periods greater than five days are uncommon in the hilly Sleepers River (Vermont), and Yellow Barn State Forest (New York) and at Ley Creek, on a glacial plain (New York). At both Dry Creek and Reynolds Creek, headwater stream flow direction was transverse to groundwater, and below field capacity discharge was well related to either the ground water surface or corresponded to inversion of the hydraulic gradient over the depth of the soil. At all sites except Ley Creek, the headwaters became intermittent as the main tributary discharge declined, often disconnecting the surface source springs and seeps from the valley bottom stream. At the Idaho sites recession analysis for main stem was further complicated by consumptive use for irrigation and domestic wells. Modeling the recession characteristics of these various settings and across stream orders results in a variety of exponent values for power law scaling approaches that indicate the importance of site context for modeling low flow.
Full Text Available This paper deals with the influence of positive trust on business activities, entrepreneurship development, and economic growth. During the global recession, institutions make numerous decisions to find answers to the crisis that influence the behaviour of entrepreneurs. In such situations, significant stocks of trust are of great importance for economy stability and the motivation of future entrepreneurs. In the first section the terms, functions, and types of trust are defined. The second section presents the results of measuring the interpersonal and institutional trust of young entrepreneurs, representatives of future entrepreneurship and business and bearers of networking ideas in Serbia. The results show that young entrepreneurs have a serious trust deficit, which is worrying in people who are potential future business leaders. Only one fifth of the respondents intends to start their own firm when they have finished studying. The reasons most often given are that government economic policy and monopolies hamper starting a business. Most of the respondents thought that the government should be more involved in providing a better environment for medium and small business. Most respondents believed that the Serbian recession was caused foremost by wrong governmental economic policy, followed by corruption.
Julie A Kirsch
Full Text Available The Great Recession of 2007–2009 is regarded as the most severe economic downturn since World War II. This study examined relationships between reported recession hardships and physical health in a national survey of American adults ( N = 1275. Furthermore, education and psychological resources (perceived control, purpose in life, and conscientiousness were tested as moderators of the health impacts of the recession. A greater number of hardships predicted poorer health, especially among the less educated. Psychological resources interacted with education and hardships to predict health outcomes. Although typically viewed as protective factors, such resources became vulnerabilities among educationally disadvantaged adults experiencing greater recession hardships.
Kirsch, Julie A; Ryff, Carol D
The Great Recession of 2007-2009 is regarded as the most severe economic downturn since World War II. This study examined relationships between reported recession hardships and physical health in a national survey of American adults ( N = 1275). Furthermore, education and psychological resources (perceived control, purpose in life, and conscientiousness) were tested as moderators of the health impacts of the recession. A greater number of hardships predicted poorer health, especially among the less educated. Psychological resources interacted with education and hardships to predict health outcomes. Although typically viewed as protective factors, such resources became vulnerabilities among educationally disadvantaged adults experiencing greater recession hardships.
Dagher, Rada K; Chen, Jie; Thomas, Stephen B
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.
Funai, Hiroaki; Yabe, Toshie; Kase, Yasuhiro; Kitahara, Nobuo; Horiuchi, Koji; Yano, Jun; Ushijima, Tatsujiro; Iinuma, Toshitaka
Operative findings of the supratubal recess were examined in the 30 patients with acquired cholesteatoma. They were compared with findings of high-resolution CTs (HRCTs) obtained preoperatively. Thus the role of HRCT in cholesteatoma involving the supratubal recess were evaluated. HRCTs of 172 ears without otitis media and 65 ears with tubotympanic type otitis media were analyzed as control. The HRCT has proved to provide excellent informations regarding the presence of cholesteatoma in the supratubal recess. Diagnostic points were as follows. (1) Destruction of the ''cog''. (2) Erosion or destruction of surrounding bony structures, for example, facial canal, tympanic tegmen. (3) Soft tissue density in the supratubal recess. (author)
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
Garshasbi, Masoud; Hadavi, Valeh; Habibi, Haleh; Kahrizi, Kimia; Kariminejad, Roxana; Behjati, Farkhondeh; Tzschach, Andreas; Najmabadi, Hossein; Ropers, Hans Hilger; Kuss, Andreas Walter
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.
Ansar, Muhammad; Ramzan, Mohammad; Pham, Thanh L.; Yan, Kai; Jamal, Syed Muhammad; Haque, Sayedul; Ahmad, Wasim; Leal, Suzanne M.
For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26–q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26–q27 (Multipoint lod score 3.6). The genetic region for DFNB38 spans 10.1 cM according to the Marshfield genetic map and is bounded by markers D6S980 and D6S1719. This genetic region corresponds to 3.4 MB on the sequence-based physical map. PMID:12890929
Stenosis of the lateral recess in the lumbar spinal canal is a clinical problem, especially in terms of surgical management. Criteria for the diagnosis and surgical treatment of lateral recess stenosis (LRS) are not clearly defined. Several authors have suggested measurement of the lateral recess height (LRH) on computed tomography (CT) scans as a helpful tool for making decisions in regard of management. The present study is based an the assumption that measurement of the lateral recess angle (LRA) may be useful in the clinical management of lateral recess stenosis. The reliability and significance of the results have been analyzed. In 35 patients, the stenosis was confirmed by intraoperative measurement of the lateral recess height. Fifty-three affected lateral recesses were analyzed. Before surgery, the heights on CT scans were measured. The mean value was 3.3 mm (SD = 0.9 mm), while 41 of them were 3.6 mm or less. Furthermore, the angles on CT scans were evaluated. The mean value was 25.9 degrees (SD = 4.9 degrees), 48 of them were 30 degrees or less and only 5 of them achieved more than 30 degrees. Results reveal that the best quantitative determination of a lateral recess stenosis is a CT scan angle measurement with a critical value of 30 degrees. A CT scan height of 3.6 mm or less is also indicative of stenosis. Statistical evaluation of the data by multiple regression analysis revealed agreement between intraoperative findings and measured heights (p = 0.02), while even better results were noted for angles (p < 0.01). Interfacet distance (IF) was found to be least predictive (p = 0.04). (author)
Bianchi, Emily C
Despite widespread interest in narcissism, relatively little is known about the conditions that encourage or dampen it. Drawing on research showing that macroenvironmental conditions in emerging adulthood can leave a lasting imprint on attitudes and behaviors, I argue that people who enter adulthood during recessions are less likely to be narcissistic later in life than those who come of age in more prosperous times. Using large samples of American adults, Studies 1 and 2 showed that people who entered adulthood during worse economic times endorsed fewer narcissistic items as older adults. Study 3 extended these findings to a behavioral manifestation of narcissism: the relative pay of CEOs. CEOs who came of age in worse economic times paid themselves less relative to other top executives in their firms. These findings suggest that macroenvironmental experiences at a critical life stage can have lasting implications for how unique, special, and deserving people believe themselves to be. © The Author(s) 2014.
Full Text Available The purpose of this paper is to design three separate financial distress prediction models that will track the changes in a relative importance of financial ratios throughout three consecutive years. The models were based on the financial data from 2000 privately-owned small and medium-sized enterprises in Croatia from 2006 to 2009, and developed by means of logistic regression. Macroeconomic conditions as well as market dynamic have been changed over the mentioned period. Financial ratios that were less important in one period become more important in the next period. Composition of model starting in 2006 has been changed in the next years. It tells us what financial ratios are more important during the time of economic downturn. Besides, it helps us to understand behavior of small and medium-sized enterprises in the period of prerecession and in the period of recession.
Singh, M.; Mishra, S.; Mohanty, S. S.; Mishra, G. P.
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.
Singh, M; Mishra, G P; Mishra, S; Mohanty, S S
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. (paper)
Müller, Hans-Peter; Stadermann, Sabine; Heinecke, Achim
Smoking is a major risk factor for destructive periodontal disease. There is limited information with regard to effects of smoking in subjects with minimal periodontal destruction. The aim of the present investigation was to assess the development of gingival recession in young adult smokers and non-smokers. 61 systemically healthy young adults, 19 to 30 years of age completed the final examination. 30 volunteers smoked at least 20 cigarettes per day, whereas 31 subjects were non-smokers. Clinical periodontal conditions were assessed 4x within a time period of 6 months. Site-specific analyses considering the correlated structure of data were performed. At the outset, 50% of subjects presented with gingival recession at 1 or more sites. There was no significant difference in the prevalence of gingival recession between non-smokers and smokers. Severe recession in excess of 2 mm affected about 23% non-smokers but only 7% smokers. Some further gingival recession developed during the 6-month observation period. In a multivariate logistic regression analysis, the risk for recession development appeared not to be influenced by smoking status after adjusting for periodontal probing depth, recession at baseline, tooth brushing frequency, gender, jaw, tooth type and site. Present data did not support the hypothesis that smokers are at an increased risk for the development of gingival recession.
Sawyer, Amanda G.
From 2007 to 2009, the United States experienced one of the greatest economic declines reported in the previous decades, known as the Great Recession (Bureau of Labor Statistics, 2012). While a great deal of media attention focused on the immediate financial effects of the recession, little discussion was made about the influence of this crisis…
Dunbar, Afet; Hossler, Don; Shapiro, Doug; Chen, Jin; Martin, Sarah; Torres, Vasti; Zerquera, Desiree; Ziskin, Mary
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.…
Takhtamanova, Yelena; Sierminska, Eva
This paper studies the mechanisms driving the persistently high unemployment rate during the last recession and mild recovery. Previous studies have examined the demographic aspect of the recession. We focus on specific industries. Consequently, we propose a methodology to decompose changes in the
Mendoza, Pilar; Malcolm, Zaria; Parish, Nancy
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…
Lance, Keith Curry; Hofschire, Linda; Daisey, Jamie
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…
Zerger, Heather M.; Miller, Bryon G.; Valbuena, Diego; Miltenberger, Raymond G.
The purpose of this study was to evaluate the effects of student pairing and feedback during recess on children's step counts. During baseline, participants wore a sealed pedometer during recess. During intervention, we paired participants with higher step counts with participants with lower step counts. We encouraged teams to compete for the…
Full Text Available Differences in recess physical activity (PA according to perceived school environment among elementary school children were examined. Participants were 103 children from two schools in Japan. PA was measured using accelerometry for seven consecutive days. Time spent in sedentary or PA (light, moderate, or vigorous during their morning recess (25 min and lunch recess (15 min was determined. The School Physical Activity Environment Scale (three factors: equipment, facility, and safety was used to investigate perceived school environment. Environmental factor scores were assigned to low or high groups for each factor by median. An analysis of covariance, with grade as the covariate, was conducted separately by gender to examine differences in PA between two groups. During lunch recess, boys in the high-equipment group spent significantly more time in moderate PA (high: 1.5; low: 0.8 min whereas girls in this group spent less time in light PA (9.3, 11.0. Boys in the high-facility group spent significantly less time in sedentary (2.3, 3.9 and more time in vigorous PA (2.4, 1.4 during lunch recess, and girls spent more time in moderate (2.1, 1.2 and vigorous PA (1.9, 1.3 during morning recess. Differences were observed in recess PA according to school environment perceptions. The present study may be useful for further intervention studies for the promotion of PA during recess.
Full Text Available AlGaN/GaN, because of their superior material properties, are most suitable semiconductor material for High Electron Mobility Transistors (HEMTs. In this work we investigated the hidden physics behind these materials and studied the effect of recess technology in AlGaN/GaN HEMTs. The device under investigation is simulated for different recess depth using Silvaco-Atlas TCAD. Recess technology improves the performance of AlGaN/GaN HEMTs. We considered three kinds of recess technology gate, ohmic and combination of gate and ohmic. Gate recess improves transconductance gm but it reduces the drain current Id of the device under investigation. Ohmic recess improves the transconductance gm but it introduces leakage current Ig in the device. In order to use AlGaN/GaN for high voltage operation, both the transconductance and the drain current should be reasonably high which is obtained by combining both gate and ohmic recess technologies. A good balance in transconductance and drain current is achieved by combining both gate and ohmic recess technologies without any leakage current.
Wang, Hongmei; Li, Tao; Siahpush, Mohammad; Chen, Li-Wu; Huberty, Jennifer
Background: Many school-based recess interventions have been shown to be effective in increasing physical activity but their relative efficiency compared to other school-based programs are unknown. This study examined the cost-effectiveness of Ready for Recess, a program designed to increase students' physical activity in 2 elementary schools.…
The author estimates the impacts of the local rate of unemployment and the Great Recession on the quit and graduation rates of the U.S. construction trade apprentices over the 2001-2014 period. Trade union participation in training sponsorship had a strong influence on attrition rates. The impacts of the business cycle and the Great Recession on…
Bleeker, Martha; Beyler, Nicholas; James-Burdumy, Susanne; Fortson, Jane
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.…
Isaacs, Julia B.
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…
Tobey, Trina; McAuliff, Kathleen; Rocha, Celina
Incidences and severity of child abuse have increased since the start of the recession. This study examined the relationship between employment status and severity of symptoms in children abused during a recession year. Participants included 154 females and 65 males between 2 and 17 years old referred to Dallas Children's Advocacy Center after…
Bonioli, E; Palmieri, A; Bertola, A; Bellini, C
Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.
Gansemer-Topf, Ann M.; Downey, Jillian; Thompson, Katherine; Genschel, Ulrike
Economic recessions impact higher education institutions in complex ways. Several analyses have examined the influence of the 2007-2009 recession on tuition, enrollments, revenues, and expenditures, but the connection of these resource allocation patterns to a student success outcome--namely, retention--is limited. This study examined…
Efrat, Merav W.
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…
Spencer-Cavaliere, Nancy; Dunn, Janice Causgrove; Watkinson, E. Jane
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.…
London, Rebecca A; Westrich, Lisa; Stokes-Guinan, Katie; McLaughlin, Milbrey
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, and inclusive play to study how improving recess functioning can affect school climate. Data from teacher, principal, and recess coach interviews; student focus groups; recess observations; and a teacher survey are triangulated to understand the ways that recess changed during implementation. Comparing schools that achieved higher- and lower-functioning recesses, we link recess functioning with school climate. Recess improved in all schools, but 4 of the 6 achieved a higher-functioning recess. In these schools, teachers and principals agreed that by the end of the year, recess offered opportunities for student engagement, conflict resolution, pro-social skill development, and emotional and physical safety. Respondents in these four schools linked these changes to improved overall school climate. Recess is an important part of the school day for contributing to school climate. Creating a positive recess climate helps students to be engaged in meaningful play and return to class ready to learn. © 2014, American School Health Association.
Mejía, Shannon T; Settersten, Richard A; Odden, Michelle C; Hooker, Karen
The "Great Recession" shocked the primary institutions that help individuals and families meet their needs and plan for the future. This study examines middle-aged adults' experiences of financial loss and considers how socioeconomic and interpersonal resources facilitate or hinder maintaining a sense of control in the face of economic uncertainty. Using the 2006 and 2010 waves of the Health and Retirement Study, change in income and wealth, giving help to and receiving help from others, household complexity, and sense of control were measured among middle-aged adults (n = 3,850; age = 51-60 years). Socioeconomic resources predicted both the level of and change in the engagement of interpersonal resources prior to and during the Great Recession. Experiences of financial loss were associated with increased engagement of interpersonal resources and decreased sense of control. The effect of financial loss was dampened by education. Sense of control increased with giving help and decreased with household complexity. Findings suggest that, across socioeconomic strata, proportional loss in financial resources resulted in a loss in sense of control. However, responses to financial loss differed by socioeconomic status, which differentiated the ability to maintain a sense of control following financial loss. © The Author 2015. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: firstname.lastname@example.org.
King, Christopher J; Chen, Jie; Garza, Mary A; Thomas, Stephen B
Traditionally, economic recessions have resulted in decreased utilization of preventive health services. To explore racial and ethnic differences in breast and cervical cancer screening rates before and during the Great Recession. 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. 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. 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. Copyright © 2014 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.
Full Text Available With an eye on the global recession and as recent austerity measures really begin to bite, the UK's leading campaigner for gender equality, The Fawcett Society, has argued that it is women that stand to suffer the most. The latest report from the Office of National Statistics spells out the miserable truth: cuts to local services in England and Wales have resulted in women's jobs accounting for some '66.4% of the total drop in employment in councils'. On the other side of the Atlantic the economic downturn has been widely reported to have turned a differently gendered course and, according to the North American media, has 'taken a disproportionate toll on male employment'. This article will argue that both the North American and British press are witnessing another backlash against feminism much like that described by Susan Faludi in 1992 and further that this style of media reporting is being used to obfuscate more pressing issues such as the impact of austerity measures upon those living on the poverty line – black and working class families.
Poulter, James A; Al-Araimi, Musallam; Conte, Ivan; van Genderen, Maria M; Sheridan, Eamonn; Carr, Ian M; Parry, David A; Shires, Mike; Carrella, Sabrina; Bradbury, John; Khan, Kamron; Lakeman, Phillis; Sergouniotis, Panagiotis I; Webster, Andrew R; Moore, Anthony T; Pal, Bishwanath; Mohamed, Moin D; Venkataramana, Anandula; Ramprasad, Vedam; Shetty, Rohit; Saktivel, Murugan; Kumaramanickavel, Govindasamy; Tan, Alex; Mackey, David A; Hewitt, Alex W; Banfi, Sandro; Ali, Manir; Inglehearn, Chris F; Toomes, Carmel
Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism in people with recessive mutations in the putative glutamine transporter gene SLC38A8. Nine different mutations were identified in seven Asian and European families. Using morpholino-mediated ablation of Slc38a8 in medaka fish, we confirmed that pigmentation is unaffected by loss of SLC38A8. Furthermore, by undertaking an association study with SNPs at the SLC38A8 locus, we showed that common variants within this gene modestly affect foveal thickness in the general population. This study reveals a melanin-independent component underpinning the development of the visual pathway that requires a functional role for SLC38A8. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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
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.
Full Text Available Intellectual disability (ID is a neurodevelopmental disorder which appears frequently as the result of genetic mutations and may be syndromic (S-ID or non-syndromic (NS-ID. ID causes an important economic burden, for patient's family, health systems, and society. Identifying genes that cause S-ID can easily be evaluated due to the clinical symptoms or physical anomalies. However, in the case of NS-ID due to the absence of co-morbid features, the latest molecular genetic techniques can be used to understand the genetic defects that underlie it. Recent studies have shown that non-syndromic autosomal recessive (NS-ARID is extremely heterogeneous and contributes much more than X-linked ID. However, very little is known about the genes and loci involved in NS-ARID relative to X-linked ID, and whose complete genetic etiology remains obscure. In this review article, the known genetic etiology of NS-ARID and possible relationships between genes and the associated molecular pathways of their encoded proteins has been reviewed which will enhance our understanding about the underlying genes and mechanisms in NS-ARID.
Klebe, Stephan; Azzedine, Hamid; Durr, Alexandra; Bastien, Patrick; Bouslam, Naima; Elleuch, Nizar; Forlani, Sylvie; Charon, Celine; Koenig, Michel; Melki, Judith; Brice, Alexis; Stevanin, Giovanni
The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity in the lower limbs. Twenty-nine different loci (SPG) have been mapped so far, and 11 responsible genes have been identified. Clinically, one distinguishes between pure and complex HSP forms which are variably associated with numerous combinations of neurological and extra-neurological signs. Less is known about autosomal recessive forms (ARHSP) since the mapped loci have been identified often in single families and account for only a small percentage of patients. We report a new ARHSP locus (SPG30) on chromosome 2q37.3 in a consanguineous family with seven unaffected and four affected members of Algerian origin living in Eastern France with a significant multipoint lod score of 3.8. Ten other families from France (n = 4), Tunisia (n = 2), Algeria (n = 3) and the Czech Republic (n = 1) were not linked to the newly identified locus thus demonstrating further genetic heterogeneity. The phenotype of the linked family consists of spastic paraparesis and peripheral neuropathy associated with slight cerebellar signs confirmed by cerebellar atrophy on one CT scan.
Maghami, Fatemeh; Tabei, Seyed Mohammad Bagher; Moravej, Hossein; Dastsooz, Hassan; Modarresi, Farzaneh; Silawi, Mohammad; Faghihi, Mohammad Ali
Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1 and COL1A2 genes, recent reports have shown problems in other non-collagenous genes involved in the post translational modifications, folding and transport, transcription and proliferation of osteoblasts, bone mineralization, and cell signaling. Up to now, 17 types of OI have been reported in which types I to IV are the most frequent cases with autosomal dominant pattern of inheritance. Here we report an 8- year- old boy with OI who has had multiple fractures since birth and now he is wheelchair-dependent. To identify genetic cause of OI in our patient, whole exome sequencing (WES) was carried out and it revealed a novel deleterious homozygote splice acceptor site mutation (c.1257-2A > G, IVS7-2A > G) in FKBP10 gene in the patient. Then, the identified mutation was confirmed using Sanger sequencing in the proband as homozygous and in his parents as heterozygous, indicating its autosomal recessive pattern of inheritance. In addition, we performed RT-PCR on RNA transcripts originated from skin fibroblast of the proband to analyze the functional effect of the mutation on splicing pattern of FKBP10 gene and it showed skipping of the exon 8 of this gene. Moreover, Real-Time PCR was carried out to quantify the expression level of FKBP10 in the proband and his family members in which it revealed nearly the full decrease in the level of FKBP10 expression in the proband and around 75% decrease in its level in the carriers of the mutation, strongly suggesting the pathogenicity of the mutation. Our study identified, for the first time, a private pathogenic splice site mutation in FKBP10 gene and further prove the involvement of this gene in the rare cases of autosomal recessive OI type XI with distinguished clinical manifestations.
Boyden, Steven E; Mahoney, Lane J; Kawahara, Genri; Myers, Jennifer A; Mitsuhashi, Satomi; Estrella, Elicia A; Duncan, Anna R; Dey, Friederike; DeChene, Elizabeth T; Blasko-Goehringer, Jessica M; Bönnemann, Carsten G; Darras, Basil T; Mendell, Jerry R; Lidov, Hart G W; Nishino, Ichizo; Beggs, Alan H; Kunkel, Louis M; Kang, Peter B
We ascertained a nuclear family in which three of four siblings were affected with an unclassified autosomal recessive myopathy characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, and an unusual combination of dystrophic and myopathic features on muscle biopsy. Whole genome sequence from one affected subject was filtered using linkage data and variant databases. A single gene, MEGF10, contained nonsynonymous mutations that co-segregated with the phenotype. Affected subjects were compound heterozygous for missense mutations c.976T > C (p.C326R) and c.2320T > C (p.C774R). Screening the MEGF10 open reading frame in 190 patients with genetically unexplained myopathies revealed a heterozygous mutation, c.211C > T (p.R71W), in one additional subject with a similar clinical and histological presentation as the discovery family. All three mutations were absent from at least 645 genotyped unaffected control subjects. MEGF10 contains 17 atypical epidermal growth factor-like domains, each of which contains eight cysteine residues that likely form disulfide bonds. Both the p.C326R and p.C774R mutations alter one of these residues, which are completely conserved in vertebrates. Previous work showed that murine Megf10 is required for preserving the undifferentiated, proliferative potential of satellite cells, myogenic precursors that regenerate skeletal muscle in response to injury or disease. Here, knockdown of megf10 in zebrafish by four different morpholinos resulted in abnormal phenotypes including unhatched eggs, curved tails, impaired motility, and disorganized muscle tissue, corroborating the pathogenicity of the human mutations. Our data establish the importance of MEGF10 in human skeletal muscle and suggest satellite cell dysfunction as a novel myopathic mechanism.
We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis. Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands, hypodontia, hypoplasia of ...
Chakrabarti, Rajashri; Setren, Elizabeth
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…
Wang, S. T.; Chen, Y. W.; Chang, L. C.; Chiang, C. J.; Wang, Y. S.
The interaction of surface to subsurface water is an important issue for groundwater resources assessment and management. The influences of surface water to groundwater are mainly through the rainfall recharge, river recharge and discharge and other boundary sources. During a drought period, the interaction of river and groundwater may be one of the main sources of groundwater level recession. Therefore, this study explores the interaction of surface water to groundwater via the groundwater recession. During drought periods, the pumping and river interaction together are the main mechanisms causing the recession of groundwater level. In principle, larger gradient of the recession curve indicates more groundwater discharge and it is an important characteristic of the groundwater system. In this study, to avoid time-consuming manual analysis, the Python programming language is used to develop a statistical analysis model for exploring the groundwater recession information. First, the slopes of the groundwater level hydrograph at every time step were computed for each well. Then, for each well, the represented slope to each groundwater level was defined as the slope with 90% exceedance probability. The relationship between the recession slope and the groundwater level can then be obtained. The developed model is applied to Choushui River Alluvial Fan. In most wells, the results show strong positive correlations between the groundwater levels and the absolute values of the recession slopes.
Chen, Jie; Vargas-Bustamante, Arturo; Mortensen, Karoline; Thomas, Stephen B
To examine the association between the Great Recession of 2007-2009 and health care expenditures along the health care spending distribution, with a focus on racial/ethnic disparities. Secondary data analyses of the Medical Expenditure Panel Survey (2005-2006 and 2008-2009). Quantile multivariate regressions are employed to measure the different associations between the economic recession of 2007-2009 and health care spending. Race/ethnicity and interaction terms between race/ethnicity and a recession indicator are controlled to examine whether minorities encountered disproportionately lower health spending during the economic recession. The Great Recession was significantly associated with reductions in health care expenditures at the 10th-50th percentiles of the distribution, but not at the 75th-90th percentiles. Racial and ethnic disparities were more substantial at the lower end of the health expenditure distribution; however, on average the reduction in expenditures was similar for all race/ethnic groups. The Great Recession was also positively associated with spending on emergency department visits. This study shows that the relationship between the Great Recession and health care spending varied along the health expenditure distribution. More variability was observed in the lower end of the health spending distribution compared to the higher end. © Health Research and Educational Trust.
Full Text Available Does a country with a heavy dependence on a tourism economy have a tendency to succumb to more risk in a recession? With the shift from manufacturing-based economies in the developing world toward service-based industries, including tourism, a reliance on the tourism industry may erode economic stability in tourism-based countries, making them more prone to fall into a recession due to higher risks. In this paper, we wish to emphasise the positive impact of tourism specialisation indices in the international economy on the probability occurrence of a so-called Great Recession. This article uses a multilevel survival analysis and a generalised linear mixed-effect (GLMM structure modelling to investigate the impact of tourism development on the probability of recession frequency (risk in terms of months of duration and severity, by using data collected from 2007 to 2013 from 71 countries around the world, to see if recession frequency is positively correlated with the various indicators of tourism development. Two GLMMs were fitted to this data: logistic regression and count regression with a Poisson distribution. Results for both regressions show considerable evidence that the ratio between the number of overnight stays and the resident population and travel services as a percentage of commercial service exports positively impacts the probability for a country (from our sample to experience a recession event and can make recession worse in terms of severity, measured in months.
Bazzoli, Gloria J; Fareed, Naleef; Waters, Teresa M
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.
Full Text Available The ability of plant viruses to propagate their genomes in host cells depends on many host factors. In the absence of an agrochemical that specifically targets plant viral infection cycles, one of the most effective methods for controlling viral diseases in plants is taking advantage of the host plant’s resistance machinery. Recessive resistance is conferred by a recessive gene mutation that encodes a host factor critical for viral infection. It is a branch of the resistance machinery and, as an inherited characteristic, is very durable. Moreover, recessive resistance may be acquired by a deficiency in a negative regulator of plant defense responses, possibly due to the autoactivation of defense signaling. Eukaryotic translation initiation factor (eIF 4E and eIF4G and their isoforms are the most widely exploited recessive resistance genes in several crop species, and they are effective against a subset of viral species. However, the establishment of efficient, recessive resistance-type antiviral control strategies against a wider range of plant viral diseases requires genetic resources other than eIF4Es. In this review, we focus on recent advances related to antiviral recessive resistance genes evaluated in model plants and several crop species. We also address the roles of next-generation sequencing and genome editing technologies in improving plant genetic resources for recessive resistance-based antiviral breeding in various crop species.
Searle, A.G.; Edwards, J.H.
Induced recessive mutations can cause harm by (1) partnership with a defective allele already established in the population; (2) partnership with another recessive mutation induced at the same locus; (3) the formation of homozygous descendants, that is, identify by descent; and (4) heterozygous effects. Calculations based on a combination of data from observations on human populations and from mouse experiments suggest that an extra genetically significant dose of 1 cGy X or γ irradiation received by each parent in a stable population with a million liveborn offspring would induce up to 1200 extra recessive mutations. From partnership effects, about one extra case of recessive disease would be expected in the following 10 generations. Homozygosity resulting from identity by descent could not normally occur until the fourth generation after exposure but, on certain assumptions, about ten extra cases of recessive disease would be expected from this cause by the tenth generation. In the same period, about 250 recessive alleles would be eliminated in heterozygotes given 2.5% heterozygous disadvantage. These deleterious heterozygous effects should not be combined with those of dominants, as has been done in some previous risk estimates. It is considered unlikely that many radiation induced recessives would show heterozygous advantage. Certain dominants should be excluded from calculations of mutational risk because they are unlikely to be maintained by mutation. (author)
Lu Chunyan; Yang Zhigang; Zhou Xiangping; Yu Jianqun; Zhu Jie; Yang Kaiqing
Objective: To evaluate the CT features and implications of the pericardial sinuses and recesses effusion by combining the sectional cadavers and 16 multi-slice CT (MSCT) reformation. Methods: The anatomy and communication of the pericardial sinuses and recesses on the axial, coronal and saggital sectional cadavers (respectively 1 case), and the morphologic features on MSCT reformatted images in 104 patients were observed. The detection rate of effusion was analyzed. Results: The sectional cadavers and CT images showed that the pericardial sinuses and recesses were formed by the reflections of the pericardium on the root of the great vessels. The detection rate of the sinuses and recesses was lower in small effusion than in moderate and large effusion (P<0.05). The superior aortic recess was the most common recess for pericardial effusion. Conclusion: The MSCT reformatted images can show the morphologic features of pericardial sinuses and recesses effusion and communications with the pericardial cavity, help differentiate pericardial effusion from other mediastinal or pericardial lesions. (authors)
Nikolaos Andreas Chrysanthakopoulos
Full Text Available 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 1 st and 2 nd molars (35.3% and the mandibular 1 st and 2 nd molars (28.7% were the teeth most frequently affected by root surface exposure. Patients with sub-gingival calculus, bacterial plaque and gingival inflammation (P < 0.05, malpositioned teeth (P < 0.001, horizontal brushing method, medium type of toothbrush (P < 0.001 and brushing once daily (P < 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.
Frone, Michael R
This is the first study to examine broadly the overall net change in U.S. population estimates of alcohol use related to a recession--The Great Recession--among individuals who remain employed. The alcohol variables included drinker status, usual frequency and quantity of alcohol use, frequency of heavy drinking and intoxication, as well as contextual assessments of the frequency and quantity of alcohol use during the workday and after work. The moderating influence of gender, race, and age also was explored. Data for this repeated cross-sectional study were obtained from 2 national telephone surveys of U.S. workers. The first survey occurred prior to the Great Recession (2002-2003; N = 2,501), whereas the second survey occurred during and after the official end of the Great Recession (2008-2011; N = 2,581). The results revealed that the recession was related to a higher proportion of drinkers among middle-aged employees, but not among young employees. Gender and race did not moderate the relation of the recession to drinker status. Among drinkers, the recession was not related to usual alcohol use (frequency and quantity), but was positively related to the frequency of heavy drinking and intoxication. Further, the recession had a differential relation to the contextual alcohol measures. It was negatively related to the frequency and quantity of workday alcohol use, but was positively related to the frequency and quantity of afterwork alcohol use. Among drinkers, gender, race, and age did not moderate the relation of the recession to alcohol use. (c) 2016 APA, all rights reserved).
H. G. Rees
Full Text Available The Himalayan region of Nepal and northern India experiences hydrological extremes from monsoonal floods during July to September, when most of the annual precipitation falls, to periods of very low flows during the dry season (December to February. While the monsoon floods cause acute disasters such as loss of human life and property, mudslides and infrastructure damage, the lack of water during the dry season has a chronic impact on the lives of local people. The management of water resources in the region is hampered by relatively sparse hydrometerological networks and consequently, many resource assessments are required in catchments where no measurements exist. A hydrological model for estimating dry season flows in ungauged catchments, based on recession curve behaviour, has been developed to address this problem. Observed flows were fitted to a second order storage model to enable average annual recession behaviour to be examined. Regionalised models were developed, using a calibration set of 26 catchments, to predict three recession curve parameters: the storage constant; the initial recession flow and the start date of the recession. Relationships were identified between: the storage constant and catchment area; the initial recession flow and elevation (acting as a surrogate for rainfall; and the start date of the recession and geographic location. An independent set of 13 catchments was used to evaluate the robustness of the models. The regional models predicted the average volume of water in an annual recession period (1st of October to the 1st of February with an average error of 8%, while mid-January flows were predicted to within ±50% for 79% of the catchments in the data set. Keywords: Himalaya, recession curve, water resources, ungauged catchment, regionalisation, low flows
Full Text Available Abstract We used diffusion approximations and a Markov-chain approach to investigate the consequences of familial selection on the viability of small populations both in the short and in the long term. The outcome of familial selection was compared to the case of a random mating population under mass selection. In small populations, the higher effective size, associated with familial selection, resulted in higher fitness for slightly deleterious and/or highly recessive alleles. Conversely, because familial selection leads to a lower rate of directional selection, a lower fitness was observed for more detrimental genes that are not highly recessive, and with high population sizes. However, in the long term, genetic load was almost identical for both mass and familial selection for populations of up to 200 individuals. In terms of mean time to extinction, familial selection did not have any negative effect at least for small populations (N ≤ 50. Overall, familial selection could be proposed for use in management programs of small populations since it increases genetic variability and short-term viability without impairing the overall persistence times.
Kneipp, Shawn M; Kairalla, John A; Sheely, Amanda L
The high prevalence of health conditions among U.S. women receiving Temporary Assistance for Needy Families (TANF, or 'welfare') impedes the ability of many in this group to move from 'welfare-to-work', and the economic recession has likely exacerbated this problem. Despite this, few interventions have been developed to improve employment outcomes by addressing the health needs of women receiving TANF, and little is known about the impact of economic downturns on the employment trajectory of this group. Using data from a recent randomized controlled trial (RCT) that tested the efficacy of a public health nursing (PHN) intervention to address the chronic health condition needs of 432 American women receiving TANF, we examine the effect of the intervention and of recession exposure on employment. We further explore whether intervention effects were modified by select sociodemographic and health characteristics. Both marginal and more robust intervention effects were noted for employment-entry outcomes (any employment, p = 0.05 and time-to-employment, p = 0.01). There were significant effects for recession exposure on employment-entry (any employment, p = 0.002 and time-to-employment, p understanding of the health and employment dynamics among this group of disadvantaged women under variable macroeconomic conditions, and have implications for guiding health and TANF-related policy. Copyright © 2012 Elsevier Ltd. All rights reserved.
Huang, Jin; Kim, Youngmi; Birkenmaier, Julie
The present study examined the association between unemployment and household food insecurity during the 2007-2009 economic recession in the USA. Longitudinal survey of the Survey of Income and Program Participation (SIPP; 2008-2011). Food insecurity was measured by five questions excerpted from an eighteen-item Food Security Scale. Unemployment was measured by a dichotomous indicator, the number of job losses and the total duration of all episodes in the observation period. As nationally representative data, the SIPP interviewed respondents in multiple waves with a time interval of four months. The study created two analytic samples including working-age household heads employed at the beginning of the observation period. The size of the two samples was 14,417 and 13,080. Unemployment was positively associated with food insecurity (OR=1.55; 95% CI 1.32, 1.83; Punemployment (OR=1.54; 95% CI 1.27, 1.88; Punemployment, one more episode of unemployment increased the odds of food insecurity by 8% (OR=1.08; 95% CI 1.00, 1.18; Punemployment and food insecurity is useful to better identify and serve the at-risk population. Connecting unemployment assistance closely to nutrition assistance could lower the prevalence of food insecurity among unemployed households. Public policy should better account for both episodes and duration of unemployment to reduce food insecurity.
Perelman, Julian; Felix, Sónia; Santana, Rui
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. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
Cadena, Brian C.; Kovak, Brian K.
This paper demonstrates that low-skilled Mexican-born immigrants’ location choices in the U.S. respond strongly to changes in local labor demand, and that this geographic elasticity helps equalize spatial differences in labor market outcomes for low-skilled native workers, who are much less responsive. We leverage the substantial geographic variation in employment losses that occurred during Great Recession, and our results confirm the standard finding that high-skilled populations are quite geographically responsive to employment opportunities while low-skilled populations are much less so. However, low-skilled immigrants, especially those from Mexico, respond even more strongly than high-skilled native-born workers. Moreover, we show that natives living in metro areas with a substantial Mexican-born population are insulated from the effects of local labor demand shocks compared to those in places with few Mexicans. The reallocation of the Mexican-born workforce reduced the incidence of local demand shocks on low-skilled natives’ employment outcomes by more than 50 percent. PMID:27551329
Noland, Robert B; Zhou, Yuhan
An analysis of state-level data from 1984 to 2014 provides evidence on the relationship between economic recessions and US traffic fatalities. While there are large reductions associated with decreases in household median income, other policy variables tend to have additional and in some cases, larger effects. An increase in the inequality of the income distribution, measured by the Gini index, has reduced traffic fatalities. Graduated licensing policies, cell phone laws, and motorcycle helmet requirements are all associated with reductions in fatalities. Other factors include a proxy for medical technology, and access to emergency medical services (based on the percent of vehicle miles traveled in rural areas); reductions in the latter accounted for a substantial reduction in fatalities and is likely another indicator of reduced economic activity. Changes in the road network, mainly increases in the percent of collector roads has increased fatalities. Population growth is associated with increased traffic fatalities and changes in age cohorts has a small negative effect. Overall, results suggest that there has been a beneficial impact on traffic fatalities from reduced economic activity, but various policies adopted by the states have also reduced traffic fatalities. Copyright © 2016 Elsevier Ltd. All rights reserved.
Enckevort, L.J.G. van; Hoogkamp, T.J.H.; Bergervoet, J.E.M.; Visser, R.G.F.; Jacobsen, E.; Stiekma, W.J.; Pereira, A.
In potato, two different in vitro approaches were used to generate recessive mutants. In the first method, monoploid plant material was irradiated to isolate and identify amylose-free (amf) mutants in potato. For isolating secondary mutants in the amf background new monoploids of the amf type were developed. A few selected amf monoploids showed excellent vigour in vitro, large leave; and microtuber formation. A diploid and a monoploid were tested for in vitro mutation induction and irradiated with 0 to 16 Gy X rays. The optimal dose for survival and mutation induction was between 4 and 8 Gy and plants were regenerated from irradiated leaf explants. In the second approach, mutants were induced by insertion of transposable elements in the diploids. This method was used to mutate R genes for resistance to Phytophthora infestans. Diploid heterozygous Rr plants with the immobilised Ds element, closely linked to one of the R genes, were selected. Mobilisation of Ds using Ac element transposase resulted in the selection of plants with active somatic Ds excision frequency of about 10%. In vitro protoplast isolation and plant regeneration from such plants enabled the selection of regenerants with new independent Ds insertions. Hygromycin selection (Ds excision marker on the T-DNA) during protoplast regeneration increased the frequency of Ds excision regenerants to 56%. A total of 582 hygromycin resistant plants were regenerated and selected in vitro. Preliminary analysis of the regenerants showed re-insertions of Ds in the predicted coding sequences of genes. (author)
Full Text Available The paper investigates whether the stock market of Bangladesh can be related with the last world recession. The Pearson’s correlation analysis model was used to find the correlation between the Dhaka Stock Exchange General index and real GDP growth rate of the world. The findings show that no statistically significant correlation exists between the two variables inferring that the stock market of Bangladesh was not significantly affected by ‘the great recession’ (2007-2009. The findings of this study are inconsistent with the results of previous studies which claimed that the Bangladesh stock market shares a common stochastic trend with the capital market of USA. The results of this study may be explained mainly by domestic factors such as low market capitalization, market inefficiency, strict monitoring and control by the Security and Exchange Commission and low international participation in the stock market of Bangladesh. All these factors, along with the inconsistency with past results, instigate further investigation.
Norton, Michael A.
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.
Hellström Pigg, Maritta; Bygum, Anette; Gånemo, Agneta
Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype has also been proposed: pleomorphic...... ichthyosis (PI), characterized by marked skin changes at birth and subsequently mild symptoms. In nationwide screenings of suspected cases of ARCI in Denmark and Sweden, we identified 132 patients (age range 0.1-86 years) classified as HI (n = 7), LI (n = 70), CIE (n = 17) and PI (n = 38). At birth......-100%). A scoring (0-4) of ichthyosis/ery-thema past infancy showed widely different mean values in the subgroups: HI (3.2/3.1), LI (2.4/0.6), CIE (1.8/1.6), PI (1.1/0.3). Novel or recurrent mutations were found in 113 patients: TGM1 (n = 56), NIPAL4 (n = 15), ALOX12B (n = 15), ABCA12 (n = 8), ALOXE3 (n = 9), SLC27...
Martin Bassols, Nicolau; Vall Castelló, Judit
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. Copyright © 2016 Elsevier B.V. All rights reserved.
Martín-Santiago, A; Rodríguez-Pascual, M; Knöpfel, N; Hernández-Martín, Á
Few studies have investigated ear involvement in nonsyndromic autosomal recessive congenital ichthyosis (ARCI). To assess the type and frequency of otologic manifestations of ARCI in patients under follow-up at the pediatric dermatology department of our hospital. We prospectively studied the presence of ear pain, ear itching, tinnitus, otitis, cerumen impaction, accumulation of epithelial debris, and hearing loss. Daily hygiene measures, topical treatments, medical-surgical interventions, and frequency of visits to an ear, nose, and throat (ENT) specialist were noted in the patients' medical records. Ear examination and hearing tests were performed in all cases. Ten patients were studied: 2 had a self-healing collodion baby phenotype and 8 had ichthyosis. There was mention of otologic manifestations in the records of all 8 patients with ichthyosis (100%); 6 of these patients (75%) had abnormalities in the external auditory canal examination and 2 (25%) had conductive hearing loss. Our findings are limited by the small number of patients studied, all of whom were younger than 19 years. The involvement of both dermatologists and ENT specialists in the management of patients with ichthyosis is crucial to ensure the application of the best therapeutic and preventive measures. More studies are needed to assess the prevalence and impact on quality of life of ear involvement in patients with ichthyosis and to determine the optimal interval between ENT visits for these patients. Copyright © 2015 Elsevier España, S.L.U. and AEDV. All rights reserved.
Lagier-Tourenne, Clotilde; Tazir, Meriem; López, Luis Carlos; Quinzii, Catarina M; Assoum, Mirna; Drouot, Nathalie; Busso, Cleverson; Makri, Samira; Ali-Pacha, Lamia; Benhassine, Traki; Anheim, Mathieu; Lynch, David R; Thibault, Christelle; Plewniak, Frédéric; Bianchetti, Laurent; Tranchant, Christine; Poch, Olivier; DiMauro, Salvatore; Mandel, Jean-Louis; Barros, Mario H; Hirano, Michio; Koenig, Michel
Muscle coenzyme Q(10) (CoQ(10) or ubiquinone) deficiency has been identified in more than 20 patients with presumed autosomal-recessive ataxia. However, mutations in genes required for CoQ(10) biosynthetic pathway have been identified only in patients with infantile-onset multisystemic diseases or isolated nephropathy. Our SNP-based genome-wide scan in a large consanguineous family revealed a locus for autosomal-recessive ataxia at chromosome 1q41. The causative mutation is a homozygous splice-site mutation in the aarF-domain-containing kinase 3 gene (ADCK3). Five additional mutations in ADCK3 were found in three patients with sporadic ataxia, including one known to have CoQ(10) deficiency in muscle. All of the patients have childhood-onset cerebellar ataxia with slow progression, and three of six have mildly elevated lactate levels. ADCK3 is a mitochondrial protein homologous to the yeast COQ8 and the bacterial UbiB proteins, which are required for CoQ biosynthesis. Three out of four patients tested showed a low endogenous pool of CoQ(10) in their fibroblasts or lymphoblasts, and two out of three patients showed impaired ubiquinone synthesis, strongly suggesting that ADCK3 is also involved in CoQ(10) biosynthesis. The deleterious nature of the three identified missense changes was confirmed by the introduction of them at the corresponding positions of the yeast COQ8 gene. Finally, a phylogenetic analysis shows that ADCK3 belongs to the family of atypical kinases, which includes phosphoinositide and choline kinases, suggesting that ADCK3 plays an indirect regulatory role in ubiquinone biosynthesis possibly as part of a feedback loop that regulates ATP production.
Full Text Available Gingival recession represents a serious problem, for both patient and physician, especially when exposure of the radicular surface is related to the deterioration of the aesthetic aspect and to a more pronounced dental hyper‐ sensitivity. Scope of the study: to determine the preva‐ lence and severity of recessions in young adults, correlated with the local dental, as well as socio‐economic and cultu‐ ral conditions. Materials and method: A number of 85 persons, having addressed the Department of Perio‐ dontology, Faculty of Dental Medicine of Iasi, between February‐May 2011, were examined. The following para‐ meters were recorded: sex, education level, total number of gingival recessions at the level of the oral cavity, type of brush employed, frequency of dental brushing, amount of attached gingiva, existence of labial phrenum, type of occlusion, presence of certain complications induced by the manifestation of recessions, such as hypersensitivity. Results and discussion: Analysis and correlation of data showed that the most important role in the occurrence of recessions was played by the local factors, which intensi‐ fied the action of the determining element, the bacterial plaque. Thus, the nature of periodontal recessions is of inflammatory type, those with traumatic causes being sta‐ tistically non‐significant. The type of periodontium influ‐ enced the development of recessions, so that, for a delicate periodontium, 10.4 recessions/patient have been discove‐ red, while, in a thick periodontium, only 7 recessions/ patient. In cases of phrenectomies with insertion in the vicinity of the gingival margin, recessions of various sizes have been always present. In cases of dental occlusion, the obtained data suggest that the occurrence of recessions is not considerably influenced by the type of occlusion, the values being quite close. As to their sizes, most of the reces‐ sions were situated at a level of 2‐3 mm, a
Reeves, Aaron; McKee, Martin; Stuckler, David
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. Royal College of Psychiatrists.
Kongar, Ebru; Berik, Günseli
Feminist and institutionalist literature has challenged the "Mancession" narrative of the 2007-09 recession and produced nuanced and gender-aware analyses of the labor market and well-being outcomes of the recession. Using American Time Use Survey (ATUS) data for 2003-12, this paper examines the recession's impact on gendered patterns of time use over the course of the 2003-12 business cycle. We find that the gender disparity in paid and unpaid work hours followed a U-shaped pattern, narrowin...
Fernando Nascimento de Oliveira
Full Text Available We examine the usefulness of various financial and real sector variables to forecast recessions in Brazil between one and eight quarters ahead. We estimate probabilistic models of recession and select models based on their outof-sample forecasts, using the Receiver Operating Characteristic (ROC function. We find that the predictive out-of-sample ability of several models vary depending on the numbers of quarters ahead to forecast and on the number of regressors used in the model specification. The models selected seem to be relevant to give early warnings of recessions in Brazil.
Jorge M. Agüero; Martín Valdivia
We explore the permanent effects that recessions have on health-related outcomes of mothers and children in Peru. To account for possible self-selection in giving birth during recessions, we compare the infant mortality rates of siblings born in different phases of the economic cycle. A 1 percent decline in GDP per capita is associated with an increase in infant mortality rates between 0.30 and 0.39 percent. We find evidence that recessions also have a negative effect on long-term health meas...
Stoekenbroek, R. M.; van den Bergh Weerman, M. A.; Hovingh, G. K.; Potter van Loon, B. J.; Siegert, C. E. H.; Holleboom, A. G.
Familial LCAT deficiency (FLD) is a recessive lipid disorder ultimately leading to end-stage renal disease (ESRD). We present two brothers with considerable variation in the age at which they developed ESRD. Kidney biopsies revealed both tubular and glomerular pathology. To date, no causal therapy
is the recent developments of the phenomenon of sugomori kazoku (homing family) that at first sight seems to be a direct consequence of the economic recession, obligating many people to spend more time at home than in times of economic stability in order to avoid unnecessary expenses. However, a second look...
Ballew, Bari J; Joseph, Vijai; De, Saurav; Sarek, Grzegorz; Vannier, Jean-Baptiste; Stracker, Travis; Schrader, Kasmintan A; Small, Trudy N; O'Reilly, Richard; Manschreck, Chris; Harlan Fleischut, Megan M; Zhang, Liying; Sullivan, John; Stratton, Kelly; Yeager, Meredith; Jacobs, Kevin; Giri, Neelam; Alter, Blanche P; Boland, Joseph; Burdett, Laurie; Offit, Kenneth; Boulton, Simon J; Savage, Sharon A; Petrini, John H J
Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH) is a clinically severe variant of DC in which patients also have cerebellar hypoplasia and may present with severe immunodeficiency and enteropathy. We discovered a germline autosomal recessive mutation in RTEL1, a helicase with critical telomeric functions, in two unrelated families of Ashkenazi Jewish (AJ) ancestry. The affected individuals in these families are homozygous for the same mutation, R1264H, which affects three isoforms of RTEL1. Each parent was a heterozygous carrier of one mutant allele. Patient-derived cell lines revealed evidence of telomere dysfunction, including significantly decreased telomere length, telomere length heterogeneity, and the presence of extra-chromosomal circular telomeric DNA. In addition, RTEL1 mutant cells exhibited enhanced sensitivity to the interstrand cross-linking agent mitomycin C. The molecular data and the patterns of inheritance are consistent with a hypomorphic mutation in RTEL1 as the underlying basis of the clinical and cellular phenotypes. This study further implicates RTEL1 in the etiology of DC/HH and immunodeficiency, and identifies the first known homozygous autosomal recessive disease-associated mutation in RTEL1.
Bari J Ballew
Full Text Available Dyskeratosis congenita (DC is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH is a clinically severe variant of DC in which patients also have cerebellar hypoplasia and may present with severe immunodeficiency and enteropathy. We discovered a germline autosomal recessive mutation in RTEL1, a helicase with critical telomeric functions, in two unrelated families of Ashkenazi Jewish (AJ ancestry. The affected individuals in these families are homozygous for the same mutation, R1264H, which affects three isoforms of RTEL1. Each parent was a heterozygous carrier of one mutant allele. Patient-derived cell lines revealed evidence of telomere dysfunction, including significantly decreased telomere length, telomere length heterogeneity, and the presence of extra-chromosomal circular telomeric DNA. In addition, RTEL1 mutant cells exhibited enhanced sensitivity to the interstrand cross-linking agent mitomycin C. The molecular data and the patterns of inheritance are consistent with a hypomorphic mutation in RTEL1 as the underlying basis of the clinical and cellular phenotypes. This study further implicates RTEL1 in the etiology of DC/HH and immunodeficiency, and identifies the first known homozygous autosomal recessive disease-associated mutation in RTEL1.
Shahin, Hashem; Walsh, Tom; Sobe, Tama; Abu Sa’ed, Judeh; Abu Rayan, Amal; Lynch, Eric D.; Lee, Ming K.; Avraham, Karen B.; King, Mary-Claire; Kanaan, Moein
In a large consanguineous Palestinian kindred, we previously mapped DFNB28—a locus associated with recessively inherited, prelingual, profound sensorineural hearing impairment—to chromosome 22q13.1. We report here that mutations in a novel 218-kDa isoform of TRIOBP (TRIO and filamentous actin [F-actin] binding protein) are associated with DFNB28 hearing loss in a total of nine Palestinian families. Two nonsense mutations (R347X and Q581X) truncate the protein, and a potentially deleterious mi...
Full Text Available Mal de Meleda is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma, lichenoid skin lesions, perioral erythema, brachydactyly and nail abnormalities. We are reporting two cases of a clinically typical disease in a family. No consanguineous relationship between the parents was known and cases could not be detected in three generations of the patient's family.
Zimoń, Magdalena; Battaloǧlu, Esra; Parman, Yesim; Erdem, Sevim; Baets, Jonathan; De Vriendt, Els; Atkinson, Derek; Almeida-Souza, Leonardo; Deconinck, Tine; Ozes, Burcak; Goossens, Dirk; Cirak, Sebahattin; Van Damme, Philip; Shboul, Mohammad; Voit, Thomas; Van Maldergem, Lionel; Dan, Bernard; El-Khateeb, Mohammed S.; Guergueltcheva, Velina; Lopez-Laso, Eduardo; Goemans, Nathalie; Masri, Amira; Züchner, Stephan; Timmerman, Vincent; Topaloǧlu, Haluk; De Jonghe, Peter
Autosomal recessive forms of Charcot-Marie-Tooth disease (ARCMT) are rare but severe disorders of the peripheral nervous system. Their molecular basis is poorly understood due to the extensive genetic and clinical heterogeneity, posing considerable challenges for patients, physicians, and researchers. We report on the genetic findings from a systematic study of a large collection of 174 independent ARCMT families. Initial sequencing of the three most common ARCMT genes (ganglioside-induced differentiation protein 1—GDAP1, SH3 domain and tetratricopeptide repeats-containing protein 2—SH3TC2, histidine-triad nucleotide binding protein 1—HINT1) identified pathogenic mutations in 41 patients. Subsequently, 87 selected nuclear families underwent single nucleotide polymorphism (SNP) genotyping and homozygosity mapping, followed by targeted screening of known ARCMT genes. This strategy provided molecular diagnosis to 22 % of the families. Altogether, our unbiased genetic approach identified pathogenic mutations in ten ARCMT genes in a total of 41.3 % patients. Apart from a newly described founder mutation in GDAP1, the majority of variants constitute private molecular defects. Since the gene testing was independent of the clinical phenotype of the patients, we identified mutations in patients with unusual or additional clinical features, extending the phenotypic spectrum of the SH3TC2 gene. Our study provides an overview of the ARCMT genetic landscape and proposes guidelines for tackling the genetic heterogeneity of this group of hereditary neuropathies. PMID:25231362
Bessahraoui, M; Paquis, V; Rouzier, C; Bouziane-Nedjadi, K; Naceur, M; Niar, S; Zennaki, A; Boudraa, G; Touhami, M
Wolfram syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder, and it is mainly characterized by the presence of diabetes mellitus and optic atrophy. Other symptoms such as diabetes insipidus, deafness, and psychiatric disorders are less frequent. The WFS1 gene, responsible for the disease and encoding for a transmembrane protein called wolframin, was localized in 1998 on chromosome 4p16. In this report, we present a familial observation of Wolfram syndrome (parents and three children). The propositus was a 6-year-old girl with diabetes mellitus and progressive visual loss. Her family history showed a brother with diabetes mellitus, optic atrophy, and deafness since childhood and a sister with diabetes mellitus, optic atrophy, and bilateral hydronephrosis. Thus, association of these familial and personal symptoms is highly suggestive of Wolfram syndrome. The diagnosis was confirmed by molecular analysis (biology), which showed the presence of WFS1 homozygous mutations c.1113G>A (p.Trp371*) in the three siblings and a heterozygote mutation in the parents. Our observation has demonstrated that pediatricians should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. Copyright © 2014 Elsevier Masson SAS. All rights reserved.
Pawlowski, Charlotte Skau; Schipperijn, Jasper; Tjørnhøj-Thomsen, Tine
Facilitators and barriers to recess physical activity are not well understood. To date, research on recess physical activity has predominantly focused on quantitative measures typically focusing on a narrow set of predefined factors, often constructed by adults. To really understand the factors...... 11–12-year-old children. The socio-ecological model was used as the overall theoretical framework. Twelve factors were identified as influencing the children’s recess physical activity: bodily self-esteem and ability; gender; gendered school culture; peer influence; conflicts and exclusion; space...... and place experiences; lack of play facilities; outdoor play policy; use of electronic devices; recess duration; organised activities; and weather. These factors were located within different layers of the socio-ecological model, but were interdependent. The findings speak for implementing a combination...
Azagra-Caro, J.M.; Tijssen, R.J.W.; Yegros-Yegros, A.
The 2007/2008 financial crisis, and ensuing economic recession, had a direct negative effect on university-industry research cooperation in the OECD countries and other economies – it diminished the number of university-industry co-authored research publications (UICs) during the period 2008-13 by 7%. It also changed the relationship between national business expenditure on R&D and UIC output levels. Before the recession the relationship was negative, but became positive during the years 2008-2013. The few countries where business expenditure on R&D increased during recession saw UIC numbers rise. This moderating effect of the recession applies only to ‘domestic UICs’, where universities cooperated with business companies located in the same country. Micro-level research is needed to assess the contributing effects on large university-industry R&D consortia on both domestic and international collaboration patterns. (Author)
Full Text Available This paper is an attempt to translate economic figures and indices into the living conditions of people who are behind the statistics of the U.S. economic recession, which officially began in December 2007 and ended in June 2009. The pathology of the Great Recession began with the financial shock, which resulted from the buildup of financial mischief since the 1980s, and the burst of its real estate bubble by 2007. A recession is a man-made tragedy with a large human cost. This paper addresses this flip side of the current economic crisis by examining its human consequences on different social classes and groups. A breakdown of various data proves that the working class, the majority in U.S. society, suffers most from the recession, and yet, some amongst them even more than others, depending upon their social status with regard to education, race, and age.
Full Text Available The width of the attached gingiva is defined as a distance between the depth of the gingival sulcus or gingival/periodontal pocket to the mucogingival junction. Authors suggest that a minimal amount of attached gingiva is necessary to ensure the gingival health. When the buccal bone plate and gingival tissues are thin and the position of the tooth is too vestibular gingival margin often displaces apically, and gingival recession develops. In the presence of gingival recession and reduced vestibular depth oral hygiene procedures are embarrassed.The definition of class III gingival recession is marginal lack of tissue extended to/or beyond the mucogingival junction with bone and soft tissue loss interdentally or malpositioning of the tooth.Prognosis for class III and IV gingival recession is that only partial coverage can be expected after root coverage procedures - FGG (free gingival graft or connective tissue graft (CTG. Adjunctive surgical techniques would be helpful to achieve better aesthetic outcomes.
Menéndez, A; Alvarez-Uría, M
Light and electron microscopy of the hypothalamic ventricle in neonatal rats demonstrate morphological specializations of the ventricular wall at the level of the premammillary region of the third ventricle. The morphological features are: (1) A ventricular recess that we have called the "hypothalamic dorso-lateral recess" (HDR). (2) The presence of intraventricular capillaries near the dorso-lateral recess. (3) The HDR possessing a specialized ependymal lining; this consists of non-ciliated cells with short microvilli and bleb-like processes. (4) The existence of cerebrospinal fluid-contacting neurons within the HDR. (5) The presence of numerous phagocytic supraependymal cells. The HDR is not found in adult rats. This indicates that the dorso-lateral recess may play a physiological role during development.
Menno, Dominik Francesco; Oliviero, Tommaso
drop in consumption than savers who relatively benefit from a redistribution of housing wealth during the recession. We show that the size of this redistribution mechanism would have been significantly lower if (i) mortgage spreads would have remained at the low pre-crisis levels during the recession......This paper quantifies how the welfare costs of the U.S. Great Recession are distributed across borrowing and saving U.S. households. For this purpose, we use a calibrated dynamic general equilibrium model of housing and household debt with shocks to aggregate income and shocks to the financial...... intermediation sector. The model matches the boom-bust cycle in house prices, the dynamics of household mortgage debt, and the increase in wealth inequality observed in the U.S. between 2001-2013. We find larger welfare costs of the Great Recession for borrowers than for savers. Borrowers experience a larger...
Conclusion: Resorbable membrane is a versatile treatment modality for coverage of isolated buccal gingival recession. Although membrane exposure occurred in four patients, it did not interfere with post operative healing.
Brown, A. J.; McGuire, P.; Wolff, M. J.
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.
Family therapy Overview Family therapy is a type of psychological counseling (psychotherapy) that can help family members improve communication and resolve conflicts. Family therapy is usually provided by a psychologist, ...
The situation in the family preceding a family separation is studied here, to identify risk factors for family dissolution. Information registers covering prospective statistics about health aspects, demographic variables, family violence, self-destructive behaviour, unemployment, and the spousal...
Turco, G.; Chiesa, G.M.; De Manzoni, G.
The peritoneum of the great abdominal cavity and its recesses are a blind radiographical area which can however be easily outlined by US when it contains fluid. The anatomical study of these usually virtual cavities represent the purpose of this paper. The natural contrast of the peritoneal fluid as amplified by the mechanical effect produced by an adequate amount of fluid, allows a clear visualization of the anatomy of various peritoneal structures in either upper (subphrenic, subhepatic, lesser sac, etc.) or lower (pelvic) areas. The sovramesocolic and the infracolic compartments are in comunication through the two external paracolic gutters which are the main passageways for the fluids between upper and lower compartments. In fact, peritoneal fluids are in constant movement due to different factors, such as gravity, statics, which causes the peritoneal fluids to flow into the lowest part of the peritoneal cavity, and hydrostatic pressure. Pressure differences are thought to convey fluids from various sites of the abdomen into different areas. In the lower abdomen, pressure is 3 times as much as in the upper abdomen, which causes the fluids to move into the subhepatic and subphrenic regions. The redistribution of fluids can be influenced by particular anatomical causes. The phrenicocolic ligament, e.g., is a barrier to the advancing of fluds along the left paracolic gutter, which makes the right paracolic gutter the main passageway for the fluids. This pattern explains why abscesses are more frequent in the right than in the upper left abdominal regions. Another example in the tiny Winslow opening, which does not allow inflammatory material to pass into the lesser sac in case of inflammatory processes of the great peritoneal cavity and viceversa. Moreover, pointing out fluid collections and abscesses is important, since an early diagnosis and a topografic map are essential order to plan treatment
Morpurgo, G.; Puppo, S.; Gualandi, G.; Conti, L.
A simple method capable of detecting recessive lethal damage in a diploid strain of Aspergillus nidulans is described. The method scores the recessive lethals on the 1st, the 3rd and the 5th chromosomes, which represent about 40% of the total map of A. nidulans. Two examples of induced lethals, with ultraviolet irradiation and methyl methanesulfonate are shown. The frequency of lethals may reach 36% of the total population with UV irradiation. (Auth.)
Leist, Anja K.; Hessel, Philipp; Avendano, Mauricio
Background Fluctuations in the national economy shape labour market opportunities and outcomes, which in turn may influence the accumulation of cognitive reserve. This study examines whether economic recessions experienced in early and mid-adulthood are associated with later-life cognitive function. Method Data came from 12,020 respondents in 11 countries participating in the Survey of Health, Ageing and Retirement in Europe (SHARE). Cognitive assessments in 2004/5 and 2006/7 were linked to complete work histories retrospectively collected in 2008/9, and to historical annual data on fluctuations in Gross Domestic Product (GDP) per capita for each country. Controlling for confounders, we assessed whether recessions experienced at ages 25-34, 35-44 and 45-49 were associated with cognitive function at ages 50-74. Results Among men, each additional recession at ages 45-49 was associated with worse cognitive function at ages 50-74 (b = -0.06, Confidence Interval [CI] -0.11, -0.01). Among women, each additional recession at ages 25-44 was associated with worse cognitive function at ages 50-74 (b25-34 = -0.03, CI -0.04, -0.01; b35-44= -0.02, CI -0.04, -0.00). Among men, recessions at ages 45-49 influenced risk of being laid-off, whereas among women, recessions at ages 25-44 led to working part-time and higher likelihood of downward occupational mobility, which were all predictors of worse later-life cognitive function. Conclusions Recessions at ages 45-49 among men and 25-44 among women are associated with later-life cognitive function, possibly via more unfavourable labour market trajectories. If replicated in future studies, findings may indicate that policies that ameliorate the impact of recessions on labour market outcomes may promote later-life cognitive function. PMID:24258197
Leist, Anja K; Hessel, Philipp; Avendano, Mauricio
Fluctuations in the national economy shape labour market opportunities and outcomes, which in turn may influence the accumulation of cognitive reserve. This study examines whether economic recessions experienced in early and mid-adulthood are associated with later-life cognitive function. Data came from 12,020 respondents in 11 countries participating in the Survey of Health, Ageing and Retirement in Europe (SHARE). Cognitive assessments in 2004/2005 and 2006/2007 were linked to complete work histories retrospectively collected in 2008/2009 and to historical annual data on fluctuations in Gross Domestic Product per capita for each country. Controlling for confounders, we assessed whether recessions experienced at ages 25-34, 35-44 and 45-49 were associated with cognitive function at ages 50-74. Among men, each additional recession at ages 45-49 was associated with worse cognitive function at ages 50-74 (b=-0.06, CI -0.11 to -0.01). Among women, each additional recession at ages 25-44 was associated with worse cognitive function at ages 50-74 (b25-34=-0.03, CI -0.04 to -0.01; b35-44=-0.02, CI -0.04 to -0.00). Among men, recessions at ages 45-49 influenced risk of being laid-off, whereas among women, recessions at ages 25-44 led to working part-time and higher likelihood of downward occupational mobility, which were all predictors of worse later-life cognitive function. Recessions at ages 45-49 among men and 25-44 among women are associated with later-life cognitive function, possibly through more unfavourable labour market trajectories. If replicated in future studies, findings indicate that policies that ameliorate the impact of recessions on labour market outcomes may promote later-life cognitive function.
Rees, H. G.; Holmes, M. G. R.; Young, A. R.; Kansakar, S. R.
The Himalayan region of Nepal and northern India experiences hydrological extremes from monsoonal floods during July to September, when most of the annual precipitation falls, to periods of very low flows during the dry season (December to February). While the monsoon floods cause acute disasters such as loss of human life and property, mudslides and infrastructure damage, the lack of water during the dry season has a chronic impact on the lives of local people. The management of water resources in the region is hampered by relatively sparse hydrometerological networks and consequently, many resource assessments are required in catchments where no measurements exist. A hydrological model for estimating dry season flows in ungauged catchments, based on recession curve behaviour, has been developed to address this problem. Observed flows were fitted to a second order storage model to enable average annual recession behaviour to be examined. Regionalised models were developed, using a calibration set of 26 catchments, to predict three recession curve parameters: the storage constant; the initial recession flow and the start date of the recession. Relationships were identified between: the storage constant and catchment area; the initial recession flow and elevation (acting as a surrogate for rainfall); and the start date of the recession and geographic location. An independent set of 13 catchments was used to evaluate the robustness of the models. The regional models predicted the average volume of water in an annual recession period (1st of October to the 1st of February) with an average error of 8%, while mid-January flows were predicted to within ±50% for 79% of the catchments in the data set.
Mitsuhiro Isaka; Masahiko Befu; Nami Matsubara; Mayuko Ishikawa; Yurie Arase; Toshiyuki Tsuyama; Akiko Doi; Shinichi Namba
Canine medial patellar luxation (MPL) is a very common orthopedic disease in small animals. Because the pathophysiology of this disease involves various pathways, the surgical techniques and results vary according to the veterinarian. Further, the landmark for block recession is not completely clear. We retrospectively evaluated 75 dogs (107 limbs) with MPL in whom our landmark for block recession was used from July 2008 to May 2013. Information regarding the breed, age, sex, body weight, bod...
Pini-Prato, Giovan Paolo; Cozzani, Giuseppe; Magnani, Cristina; Baccetti, Tiziano
This case report describes the healing of gingival recessions on mandibular incisors resulting from orthodontic treatment of a deep bite malocclusion at a 30-year follow-up observation. The marked improvement in the severe recessions was a consequence of the elimination of the direct trauma, orthodontic intrusion of the affected teeth, and subsequent creeping attachment over time. No periodontal treatment was performed before or after orthodontic treatment.
This paper examines the synchronization of business cycles across the G7 countries during US recessions since the 1870's. Using a dynamic measure of business cycle synchronization, results depend on the globalisation period under consideration. On average, US recessions have significantly positive effects on business cycle co-movements only in the period following the breakdown of the Bretton Woods system of fixed exchange rates, while strongly decoupling effects among the G7 econ...
Hylton Hollander; Guangling Liu
This paper establishes the prevailing financial factors that influence credit spread variability, and its impact on the U.S. business cycle over the Great Moderation and Great Recession periods. To do so, we develop a dynamic general equilibrium framework with a central role of financial intermediation and equity assets. Over the Great Moderation and Great Recession periods, we find an important role for bank market power (sticky rate adjustments and loan rate markups) on credit spread variab...
Hylton Hollander and Guangling Liu
This paper establishes the prevailing financial factors that influence credit spread variability, and its impact on the U.S. business cycle over the Great Moderation and Great Recession periods. To do so, we develop a dynamic general equilibrium framework with a central role of financial intermediation and equity assets. Over the Great Moderation and Great Recession periods, we find an important role for bank market power (sticky rate adjustments and loan rate markups) on credit spread variab...
Valéria Ingght Almeida Lima
Full Text Available Normal 0 21 false false false PT-BR X-NONE X-NONE During surface irrigation, some phases related to its hydraulics are produced. The monitoring of these phases allows determining dvance and recession curves. The recession phase occurs after the application of water to furrows. Hydraulically, it is the most complex phase and therefore difficult to predict in mathematical treatments. To obtain the recession phase, it is necessary to determine the time at which water advances over the soil surface to specific points, called stations, over the area and then record the time at which it disappears. Observing the passage of the recessive front through the measuring stations along the furrows as a function of time defines the recession curve. Using field data obtained by Ramsey (1976 and by the Department of Agriculture and Chemical Engineering, University of Colorado (1980, in three different farms: Horticulture, Stieben e Benson. This work aimed to study the effect of the recession time on the infiltrated profile in surface irrigation.
Wilkinson, Lindsay R
The economic recession has garnered the interest of many scholars, with much attention being drawn to how the recession has affected labor force participation, household wealth, and even retirement decisions. Certainly, the Great Recession has influenced the financial well-being of older adults, but has it had discernible effects on mental health? This study draws on 5,366 respondents from the Health and Retirement Study (2006-2010) to examine objective and subjective measures of financial well-being in the period surrounding the Great Recession. Guided by cumulative inequality theory, this research investigates whether the economic downturn contributed to worsening anxiety and depressive symptoms over a 4-year period. Results from linear fixed effects models reveal that decreases in objective financial resources were associated with increased financial strain during the Great Recession. Unlike the objective indicators, however, financial strain was a strong and robust predictor of worsening mental health between 2006 and 2010. Building on prior research, this study elucidates the factors that shape financial strain and provides evidence that the Great Recession not only affected the financial well-being of older adults but also had adverse effects on mental health. © The Author 2016. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: email@example.com.
Gao, Zan; Chen, Senlin; Stodden, David F
To compare young children's different intensity physical activity (PA) levels in physical education, recess and exergaming programs. Participants were 140 first and second grade children (73 girls; Meanage= 7.88 years). Beyond the daily 20-minute recess, participants attended 75-minute weekly physical education classes and another 75-minute weekly exergaming classes. Children's PA levels were assessed by ActiGraph GTX3 accelerometers for 3 sessions in the 3 programs. The outcome variables were percentages of time spent in sedentary, light PA and moderate-to-vigorous PA (MVPA). There were significant main effects for program and grade, and an interaction effect for program by grade. Specifically, children's MVPA in exergaming and recess was higher than in physical education. The 2nd-grade children demonstrated lower sedentary behavior and MVPA than the first-grade children during recess; less light PA in both recess and exergaming than first-grade children; and less sedentary behavior but higher MVPA in exergaming than first-grade children. Young children generated higher PA levels in recess and exergaming as compared with physical education. Hence, other school-based PA programs may serve as essential components of a comprehensive school PA program. Implications are provided for educators and health professionals.
Rana, Tarun Kumar; Phogat, Megha; Sharma, Tarun; Prasad, Narayana; Singh, Shailendra
Many patients undergo orthodontic treatment for aesthetic improvement. It is well established that the patients who undergo orthodontic treatment have a high susceptibility to present plaque accumulation on their teeth because of the presence of brackets, wires and/or other orthodontic elements on the teeth surfaces with which the oral hygiene procedures might be more difficult. The orthodontic treatment is a double-action procedure regarding the periodontal tissues which may be very meaningful in increasing the periodontal health status and may be a harmful procedure which can be followed by several types of periodontal complications. There is a strong correlation between the severity and extent of gingival recessions and the orthodontic treatment suggesting that orthodontic tooth movement may lead to gingival recession. The principal objective in the treatment of gingival recession is to cover the exposed root surfaces to improve aesthetics and to reduce hypersensitivity. Different soft tissue grafting procedures have been proposed in the treatment of gingival recessions. Subepithelial connective tissue graft is a reliable method for treatment of gingival recession. The purpose of this case report was to illustrate the relationship between orthodontic therapy and gingival recession and to describe the management of this case.
Full Text Available Introduction. Gingival recession is a displacement of gingival margin apically to cementenamel junction. Objective. The aim of this study was to compare the results achieved with two different surgical procedures used in gingival recession treatment. Methods. Ten patients with bilateral buccal recession on maxillary canines or premolars were included in the study. Professional teeth cleaning was performed before surgery. Recession on the experimental side was treated with connective tissue graft in combination with coronally advanced, split thickness flap (tunnel technique. Control side recession was treated with connective tissue graft in combination with trapezoidal coronally advanced, full thickness flap. Coin toss was used for side decision. The following parameters were evaluated before surgery and 6 months post-op: Vertical Recession Dimension, Clinical Attachment Level, Apico-coronal width of the keratinized tissue, Healing index (Laundry, RES index, and Patient evaluation of esthetic results. Student’s t-test was used for statistical analysis. Results. Six months after surgery, mean root coverage was 91.5±14.1% and 90.1±14.6% on the experimental and on the control side, respectively. RES index, Healing index (Laundry and Patient Subjective evaluation of esthetic results showed significantly better results (p≤0.05. Conclusion. Both surgical procedures produce highly successful clinical results based on evaluated parameters, but this tunnel technique provides significantly better esthetic results. [Projekat Ministarstva nauke Republike Srbije, br. III 41008: Interakcija etiopatogenetskih mehanizama parodontopatije i periimplantitisa sa sistemskim bolestima današnjice
Full Text Available Genetic leukoencephalopathies (gLEs are a group of heterogeneous disorders with white matter abnormalities affecting the central nervous system (CNS. The causative mutation in ~50% of gLEs is unknown. Using whole exome sequencing (WES, we identified homozygosity for a missense variant, VPS11: c.2536T>G (p.C846G, as the genetic cause of a leukoencephalopathy syndrome in five individuals from three unrelated Ashkenazi Jewish (AJ families. All five patients exhibited highly concordant disease progression characterized by infantile onset leukoencephalopathy with brain white matter abnormalities, severe motor impairment, cortical blindness, intellectual disability, and seizures. The carrier frequency of the VPS11: c.2536T>G variant is 1:250 in the AJ population (n = 2,026. VPS11 protein is a core component of HOPS (homotypic fusion and protein sorting and CORVET (class C core vacuole/endosome tethering protein complexes involved in membrane trafficking and fusion of the lysosomes and endosomes. The cysteine 846 resides in an evolutionarily conserved cysteine-rich RING-H2 domain in carboxyl terminal regions of VPS11 proteins. Our data shows that the C846G mutation causes aberrant ubiquitination and accelerated turnover of VPS11 protein as well as compromised VPS11-VPS18 complex assembly, suggesting a loss of function in the mutant protein. Reduced VPS11 expression leads to an impaired autophagic activity in human cells. Importantly, zebrafish harboring a vps11 mutation with truncated RING-H2 domain demonstrated a significant reduction in CNS myelination following extensive neuronal death in the hindbrain and midbrain. Thus, our study reveals a defect in VPS11 as the underlying etiology for an autosomal recessive leukoencephalopathy disorder associated with a dysfunctional autophagy-lysosome trafficking pathway.
Sajid Hussain, M; Bakhtiar, Syeda Marriam; Farooq, Muhammad
Autosomal recessive primary microcephaly (MCPH) is caused by mutations in at least eight different genes involved either in cell division or DNA repair. Most mutations are identified in consanguine families from Pakistan, Iran and India. To further assess their genetic heterogeneity and mutational...... mutation. One third of the families were linked to ASPM followed by WDR62 confirming previous data. We identified three novel ASPM mutations, four novel WDR62 mutations, one novel MCPH1 mutation and two novel CEP152 mutations. CEP152 mutations have not been described before in the Pakistani population....
Klepper, J.; Scheffer, H.; Elsaid, M.F.; Kamsteeg, E.J.; Leferink, M.; Ben-Omran, T.
GLUT1 deficiency syndrome (GLUT1DS) is understood as a monogenetic disease caused by heterozygous SLC2A1 gene mutations with autosomaldominant and sporadic transmission. We report on a six-year-old girl from an inbred Arab family with moderate global developmental delay, epilepsy, ataxia, hypotonia,
McKenna, Caoimhe; Law, Catherine; Pearce, Anna
There is a growing body of evidence associating financial strain (FS) with poor health but most of this research has been cross-sectional and adult-focused. During the 'Great Recession' many UK households experienced increased FS. The primary aim of this study was to determine the impact of increased FS on child health. We analysed the Millennium Cohort Study, a longitudinal study of children born in the UK between 2000 and 2002. Surveys at 7 years (T1, 2008) and 11 years (T2, 2012) spanned the 'Great Recession'. Three measures of increased FS were defined; 'became income poor' (self-reported household income dropped below the 'poverty line' between T1 and T2); 'developed difficulty managing' (parental report of being 'financially comfortable' at T1 and finding it 'difficult to manage' at T2); 'felt worse off' (parental report of feeling financially 'worse off' at T2 compared with T1). Poisson regression was used to estimate risk ratios (RR), adjusted risk ratios (aRR) and 95% CIs for six child health outcomes: measured overweight/obesity, problematic behaviour as scored by parents and teachers, and parental reports of fair/poor general health, long-standing illness and bedwetting at T2 (N=13 112). In subanalyses we limited our sample to those who were above the poverty line at T2. Compared with those who were not financially strained at both time points, children in households which experienced increased FS were at an increased risk of all unhealthy outcomes examined. In most cases, these increased risks persisted after adjustment for confounding and when limiting the sample to those above the poverty line. FS is associated with a range of new or continued poor child health outcomes. During times of widespread economic hardship, such as the 'Great Recession', measures should be taken to buffer children and their families from the impact of FS, and these should not be limited to those who are income poor. Published by the BMJ Publishing Group Limited. For
Hawkins, Jaclynn M.
Objectives. This study assessed possible associations between recessions and changes in the magnitude of social disparities in foregone health care, building on previous studies that have linked recessions to lowered health care use. Methods. Data from the 2006 to 2010 waves of the National Health Interview Study were used to examine levels of foregone medical, dental and mental health care and prescribed medications. Differences by race/ethnicity and education were compared before the Great Recession of 2007 to 2009, during the early recession, and later in the recession and in its immediate wake. Results. Foregone care rose for working-aged adults overall in the 2 recessionary periods compared with the pre-recession. For multiple types of pre-recession care, foregoing care was more common for African Americans and Hispanics and less common for Asian Americans than for Whites. Less-educated individuals were more likely to forego all types of care pre-recession. Most disparities in foregone care were stable during the recession, though the African American–White gap in foregone medical care increased, as did the Hispanic–White gap and education gap in foregone dental care. Conclusions. Our findings support the fundamental cause hypothesis, as even during a recession in which more advantaged groups may have had unusually high risk of losing financial assets and employer-provided health insurance, they maintained their relative advantage in access to health care. Attention to the macroeconomic context of social disparities in health care use is warranted. PMID:24328647
Grover, Vishakha; Kapoor, Anoop; Malhotra, Ranjan; Sachdeva, Sonia
Gingival recession is a common occurrence and patients often report to dental clinic with associated problems such as root surface hypersensitivity, esthetic concerns, cervical root abrasions, and root caries that make it a concern for patients. Based upon the fact that gingival recession is an enigma for clinicians because of multitude of etiological factors and plethora of treatment modalities present for its treatment, a survey was conducted to assess knowledge as well as opinion about most common etiology, classification, and preferred treatment of gingival recession and to evaluate the interest and satisfaction of dentists in practicing periodontics. Study design consisted of a cross-sectional online survey, conducted among dentists practicing in state of Punjab, India, in the month of April 2011. A structured online questionnaire consisting of 17 questions evaluating the interest of dentists in periodontics based on knowledge about gingival recession (most of them giving the possibility of multiple choices of answers) was sent to about 300 dentists. Pearson Chi-Square and Mann-Whitney U tests were used for statistical analysis of data collected. P ≤ 0.05 was considered as statistically significant and P ≤ 0.01 considered as highly significant. A greater proportion of periodontists had better knowledge about etiology (P = 0.07), classification (P = 0.000), and treatment of gingival recession (P = 0.000). A greater number of periodontists opted for the surgical modalities to correct the defects produced by gingival recession as compared to non-periodontists and had better interest (P = 0.000) and satisfaction (P = 0.000) in practicing periodontics. The results elucidated that periodontists had better interest and satisfaction in practicing periodontics, and were more inclined towards surgical correction of gingival recession as compared to non-periodontists.
Khattak, Naureen Aslam; Mir, Asif
Mental retardation (MR)/ intellectual disability (ID) is a neuro-developmental disorder characterized by a low intellectual quotient (IQ) and deficits in adaptive behavior related to everyday life tasks such as delayed language acquisition, social skills or self-help skills with onset before age 18. To date, a few genes (PRSS12, CRBN, CC2D1A, GRIK2, TUSC3, TRAPPC9, TECR, ST3GAL3, MED23, MAN1B1, NSUN1) for autosomal-recessive forms of non syndromic MR (NS-ARMR) have been identified and established in various families with ID. The recently reported candidate gene TRAPPC9 was selected for computational analysis to explore its potentially important role in pathology as it is the only gene for ID reported in more than five different familial cases worldwide. YASARA (12.4.1) was utilized to generate three dimensional structures of the candidate gene TRAPPC9. Hybrid structure prediction was employed. Crystal Structure of a Conserved Metalloprotein From Bacillus Cereus (3D19-C) was selected as best suitable template using position-specific iteration-BLAST. Template (3D19-C) parameters were based on E-value, Z-score and resolution and quality score of 0.32, -1.152, 2.30°A and 0.684 respectively. Model reliability showed 93.1% residues placed in the most favored region with 96.684 quality factor, and overall 0.20 G-factor (dihedrals 0.06 and covalent 0.39 respectively). Protein-Protein docking analysis demonstrated that TRAPPC9 showed strong interactions of the amino acid residues S(253), S(251), Y(256), G(243), D(131) with R(105), Q(425), W(226), N(255), S(233), its functional partner 1KBKB. Protein-protein interacting residues could facilitate the exploration of structural and functional outcomes of wild type and mutated TRAPCC9 protein. Actively involved residues can be used to elucidate the binding properties of the protein, and to develop drug therapy for NS-ARMR patients.
Chentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; Chaouch, Malika; Hamamy, Hanan; Antonarakis, Stylianos E
To document the clinical characteristics and inheritance pattern of epilepsy in multigeneration Algerian families. Affected members from extended families with familial epilepsy were assessed at the University Hospital of Oran in Algeria. Available medical records, neurological examination, electroencephalography and imaging data were reviewed. The epilepsy type was classified according to the criteria of the International League Against Epilepsy and modes of inheritance were deduced from pedigree analysis. The study population included 40 probands; 23 male (57.5%) and 17 female subjects (42.5%). The mean age of seizure onset was 9.5 ± 6.1 years. According to seizure onset, 16 patients (40%) had focal seizures and 20 (50%) had generalized seizures. Seizure control was achieved for two patients (5%) for 10 years, while 28 (70%) were seizure-free for 3 months. Eleven patients (27.5%) had prior febrile seizures, 12 were diagnosed with psychiatric disorders and four families had syndromic epilepsy. The consanguinity rate among parents of affected was 50% with phenotypic concordance observed in 25 families (62.5%). Pedigree analysis suggested autosomal dominant (AD) inheritance with or without reduced penetrance in 18 families (45%), probable autosomal recessive (AR) inheritance in 14 families (35%), and an X-linked recessive inheritance in one family. This study reveals large Algerian families with multigenerational inheritance of epilepsy. Molecular testing such as exome sequencing would clarify the genetic basis of epilepsy in some of our families. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.
Shaibani, Aziz; Wong, Lee-Jun; Wei Zhang, Victor; Lewis, Richard Alan; Shinawi, Marwan
Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive disorder characterized by severe sensory ataxia, muscle weakness and atrophy, and progressive pigmentary retinopathy. Recently, mutations in the FLVCR1 gene were described in four families with this condition. We investigated the molecular basis and studied the phenotype of PCARP in a new family. The proband is a 33-year-old woman presented with sensory polyneuropathy and retinitis pigmentosa (RP). The constellation of clinical findings with normal metabolic and genetic evaluation, including mitochondrial DNA (mtDNA) analysis and normal levels of phytanic acid and vitamin E, prompted us to seek other causes of our patient's condition. Sequencing of FLVCR1 in the proband and targeted mutation testing in her two affected siblings revealed two novel variants, c.1547G > A (p.R516Q) and c.1593+5_+8delGTAA predicted, respectively, to be highly conserved throughout evolution and affecting the normal splicing, therefore, deleterious. This study supports the pathogenic role of FLVCR1 in PCARP and expands the molecular and clinical spectra of PCARP. We show for the first time that nontransmembrane domain (TMD) mutations in the FLVCR1 can cause PCARP, suggesting different mechanisms for pathogenicity. Our clinical data reveal that impaired sensation can be part of the phenotypic spectrum of PCARP. This study along with previously reported cases suggests that targeted sequencing of the FLVCR1 gene should be considered in patients with severe sensory ataxia, RP, and peripheral sensory neuropathy.
Bichet, Daniel G; Bockenhauer, Detlef
Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-linked NDI who have mutations in the vasopressin V2 receptor (AVPR2) gene encoding the vasopressin V2 receptor. In less than 10% of the families studied, congenital NDI has an autosomal recessive or autosomal dominant mode of inheritance with mutations in the aquaporin-2 (AQP2) gene. When studied in vitro, most AVPR2 and AQP2 mutations lead to proteins trapped in the endoplasmic reticulum and are unable to reach the plasma membrane. Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value and can avert the physical and mental retardation associated with repeated episodes of dehydration. Copyright © 2016 Elsevier Ltd. All rights reserved.
Bitner-Glindzicz, M; Lindley, K J; Rutland, P; Blaydon, D; Smith, V V; Milla, P J; Hussain, K; Furth-Lavi, J; Cosgrove, K E; Shepherd, R M; Barnes, P D; O'Brien, R E; Farndon, P A; Sowden, J; Liu, X Z; Scanlan, M J; Malcolm, S; Dunne, M J; Aynsley-Green, A; Glaser, B
Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa. It is an autosomal recessive condition and is subdivided on the basis of linkage analysis into types 1A through 1E. Usher type 1C maps to the region containing the genes ABCC8 and KCNJ11 (encoding components of ATP-sensitive K + (KATP) channels), which may be mutated in patients with hyperinsulinism. We identified three individuals from two consanguineous families with severe hyperinsulinism, profound congenital sensorineural deafness, enteropathy and renal tubular dysfunction. The molecular basis of the disorder is a homozygous 122-kb deletion of 11p14-15, which includes part of ABCC8 and overlaps with the locus for Usher syndrome type 1C and DFNB18. The centromeric boundary of this deletion includes part of a gene shown to be mutated in families with type 1C Usher syndrome, and is hence assigned the name USH1C. The pattern of expression of the USH1C protein is consistent with the clinical features exhibited by individuals with the contiguous gene deletion and with isolated Usher type 1C.
Pawlowski, Charlotte Skau; Schipperijn, Jasper; Tjørnhøj-Thomsen, Tine
to influence the children’s recess physical activity: bodily self-esteem and ability, gender, gendered school culture, peer influence, conflicts and exclusion, space and place experiences, lack of play facilities, outdoor play policy, use of electronic devices, recess duration, organised activities...... affecting recess physical activity it is crucial to observe and listen to children to know how they engage in and perceive recess physical activity. The aim of this study was to gain knowledge on children’s perceptions and experiences of factors influencing their physical activity behaviour during recess......, and weather. These factors were located within different layers of the socio-ecological model, but were interdependent. The participatory approaches were valuable to capture knowledge on the children’s perceptions and experiences of factors influencing their physical activity behaviour during recess...
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Axelrad, Hila; Sabbath, Erika L; Hawkins, Summer Sherburne
This study examined whether economic changes related to the 2008-2009 Recession were associated with employment status and job quality indicators among older workers in Europe and Israel. Data were derived from 4917 respondents (16,090 observations both before and after the recession) from 13 countries who participated in the Survey of Health, Ageing and Retirement in Europe. Annual data on gross domestic product (GDP) per capita, life expectancy, and quarterly unemployment rates were assigned to employment assessments from 2004 to 2013. Using difference-in-differences models, we assessed the recession's implications on individual employment outcomes, while isolating cyclical variation within countries and individual changes over time. Among older workers, decreases in GDP were associated with an increase in the likelihood of being unemployed and a decrease in the likelihood of being retired. An increasing country-level unemployment rate had a significant effect on aspects of job quality: lower prospects for job advancement, lower job security, and higher job satisfaction. Economic recessions are thus negatively associated with employment outcomes for older workers. However, malleable policy-related factors such as longer tenure and improved general health can limit the negative employment and job quality outcomes following a recession.
Redelico, Francisco O.; Proto, Araceli N.; Ausloos, Marcel
Ormerod and Mounfield [P. Ormerod, C. Mounfield, Power law distribution of duration and magnitude of recessions in capitalist economies: Breakdown of scaling, Physica A 293 (2001) 573] and Ausloos et al. [M. Ausloos, J. Mikiewicz, M. Sanglier, The durations of recession and prosperity: Does their distribution follow a power or an exponential law? Physica A 339 (2004) 548] have independently analyzed the duration of recessions for developed countries through the evolution of the GDP in different time windows. It was found that there is a power law governing the duration distribution. We have analyzed data collected from 19 Latin American countries in order to observe whether such results are valid or not for developing countries. The case of prosperity years is also discussed. We observe that the power law of recession time intervals, see Ref. , is valid for Latin American countries as well. Thus an interesting point is discovered: the same scaling time is found in the case of recessions for the three data sets (ca. 1 year), and this could represent a universal feature. Other time scale parameters differ significantly from each other.
Price, Joseph; Just, David R
In this study, we evaluate if moving recess before lunch has an effect on the amount of fruits and vegetables elementary school students eat as part of their school-provided lunch. Participants were 1st-6th grade students from three schools that switched recess from after to before lunch and four similar schools that continued to hold recess after lunch. We collected data for an average of 14 days at each school (4 days during spring 2011, May 3 through June 1, 2011 and 9 days during fall 2011, September 19 through November 11, 2011). All of the schools were in Orem, UT. Data was collected for all students receiving a school lunch and was based on observational plate waste data. We find that moving recess before lunch increased consumption of fruits and vegetables by 0.16 servings per child (a 54% increase) and increased the fraction of children eating at least one serving of fruits or vegetables by 10 percentage points (a 45% increase). In contrast, the schools in our control group actually experienced a small reduction in fruit and vegetable consumption during the same time period. Our results show the benefits of holding recess before lunch and suggest that if more schools implement this policy, there would be significant increases in fruit and vegetable consumption among students who eat school lunch as part of the National School Lunch Program. Copyright © 2014 Elsevier Inc. All rights reserved.
Stratton, Gareth; Ridgers, Nicola D; Fairclough, Stuart J; Richardson, David J
This study aimed to compare moderate-to-vigorous physical activity (MVPA) and vigorous physical activity (VPA) in normal-weight and overweight boys and girls during school recess. Four hundred twenty children, age 6 to 10 years, were randomly selected from 25 schools in England. Three hundred seventy-seven children completed the study. BMI was calculated from height and weight measurements, and heart rate reserve thresholds of 50% and 75% reflected children's engagement in MVPA and VPA, respectively. There was a significant main effect for sex and a significant interaction between BMI category and sex for the percent of recess time spent in MVPA and VPA. Normal-weight girls were the least active group, compared with overweight boys and girls who were equally active. Fifty-one boys and 24 girls of normal weight achieved the 40% threshold; of these, 30 boys and 10 girls exceeded 50% of recess time in MVPA. Eighteen overweight boys and 22 overweight girls exceeded the 40% threshold, whereas 8 boys and 8 girls exceeded the 50% threshold. Overweight boys were significantly less active than their normal-weight male counterparts; this difference did not hold true for girls. Even though nearly double the number of normal-weight children achieved the 40% of MVPA during recess compared with overweight children, physical activity promotion in school playgrounds needs to be targeted not only at overweight but at other health parameters, as 40 overweight children met the 40% MVPA target proposed for recess.
Woods, Amelia Mays; McLoughlin, Gabriella M; Kern, Ben D; Graber, Kim C
Public health concerns regarding childhood obesity and sedentary behavior make investigations of children's physical activity (PA) promotion crucial. School recess, a highly discretional time, plays a central role in shaping children's activity preferences. Participants included 40 children (30 girls, 10 boys) from fourth and fifth grades, categorized as low active during recess (<26% moderate-to-vigorous PA [MVPA]). PA was measured via accelerometer (Actigraph wGT3X+) and activity choice gauged through a self-report measure over a 3-day period. To assess attitudes and perceptions of recess, individual interviews were conducted. Accelerometer data were analyzed into minutes and percentage of MVPA; interviews were transcribed verbatim and analyzed utilizing open and axial coding. Participants were active for 18% of recess, choosing activities that were primarily individual-based. Interview data showed low active children attribute recess enjoyment to social interaction and time away from schoolwork as well as an intention to avoid other children who were unkind and/or caused social conflict. This study supports the importance of gaining a child's perspective of their own behavior, particularly those children classified as less active. Findings add a unique contribution to school health research through an innovative, child-centered approach to explore perceptions of PA. © 2018, American School Health Association.
Shamseldin, Hanan E.; Faqeih, Eissa; Alasmari, Ali; Zaki, Maha S.; Gleeson, Joseph G.; Alkuraya, Fowzan S.
Brain channelopathies represent a growing class of brain disorders that usually result in paroxysmal disorders, although their role in other neurological phenotypes, including the recently described NALCN-related infantile encephalopathy, is increasingly recognized. In three Saudi Arabian families and one Egyptian family all affected by a remarkably similar phenotype (infantile encephalopathy and largely normal brain MRI) to that of NALCN-related infantile encephalopathy, we identified a locus on 2q34 in which whole-exome sequencing revealed three, including two apparently loss-of-function, recessive mutations in UNC80. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex. Our results expand the clinical relevance of the UNC79-UNC80-NALCN channel complex. PMID:26708753
Travers, Jasmine L; Cohen, Catherine C; Dick, Andrew W; Stone, Patricia W
During the Great Recession in America, African-Americans opted to forgo healthcare more than other racial/ethnic groups. It is not understood whether disparities in forgone care returned to pre-recession levels. Understanding healthcare utilization patterns is important for informing subsequent efforts to decrease healthcare disparities. Therefore, we examined changes in racial disparities in forgone care before, during, and after the Great Recession. Data were pooled from the 2006-2013 National Health Interview Survey. Forgone medical, mental, and prescription care due to affordability were assessed among African-Americans and Whites. Time periods were classified as: pre-recession (May 2006-November 2007), early recession (December 2007-November 2008), late recession (December 2008-May 2010) and post-recession (June 2010-December 2013). Multivariable logistic regressions of race, interacted with time periods, were used to identify disparities in forgone care controlling for other demographics, health insurance coverage, and having a usual place for medical care across time periods. Adjusted Wald tests were performed to identify significant changes in disparities across time periods. The sample consisted of 110,746 adults. African-Americans were more likely to forgo medical care during the post- recession compared to Whites (OR = 1.16, CI = 1.06, 1.26); changes in foregone medical care disparities were significant in that they increased in the post-recession period compared to the pre-recession (OR = 1.17, CI = 1.08, 1.28 and OR = 0.89, CI = 0.77, 1.04, respectively, adjusted Wald Test p-value Great Recession and may be a result of outstanding issues related to healthcare access, cost, and quality. While health insurance is an important component of access to care, it alone should not be expected to remove these disparities due to other financial constraints. Additional strategies are necessary to close remaining gaps in care widened by the Great Recession.
Moon, Moo Chang; Kang, Shin Wha; Won, Jong Jin; Rhee, Song Joo; Choi, Ki Chul
Authors found 16 patients with benign osteopetrosis out of 62 members of 4 families and analysed these patients clinically, radiologically, hematologically and biochemically at the Department of Radiology, Jeonbug National University Hospital from October 1977 to June 1980. The results are as follows; 1. We obtained that there is evidence of familial tendency in developing osteopetrosis because of the fact that 15 patients (94%) developed in 3 families and more than 2 patients in each family. In genetical point of view we suspected dominant trait of inheritance and could rule out recessive trait because patients were found in successive generations except for one family. There were no consangulneous marriages among the parents of these patients. 2. The majority of patients were adolescent or adult above 10 years of age when the disease was diagnosed. The incidence was identical in both sex. 3. No clinical symptoms and historical abnormalities were found in 11 patients (69%) and 5 patients (31%) showed only mild symptoms. Among 5 patients with clinical symptoms 3 patients showed pathologic fractures. In all 3 patients, fractures occurred only by mild trauma and affected sites were tubular bones and they were transverse type. 4. There were no specific relationship between ABO types and Rh reactions in developing osteopetrosis and no specific findings in hematological, biochemical and routine urinalysis. 5. The only diagnostic finding in most patients were the typical and specific radiological findings
Cawley, John; Moriya, Asako S; Simon, Kosali
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. Copyright © 2013 John Wiley & Sons, Ltd.
Shih, Chun-Hsing; Hsia, Jui-Kai
Recessed channels were used in scaled dopant-segregated Schottky barrier MOSFETs (DS-SBMOS) to control the severe short-channel effect. The physical operation and device scalability of the DS-SBMOS resulting from the presence of recessed channels and associated gate-corners are elucidated. The coupling of Schottky and gate-corner barriers has a key function in determining the on–off switching and drain current. The gate-corner barriers divide the channel into three regions for protection from the drain penetration field. To prevent resistive degradations in the drive current, an alternative asymmetric recessed channel (ARC) without a source-side gate-corner is proposed to simultaneously optimize both the short-channel effect and drive current in the scaled DS-SBMOS. By employing the proposed ARC architecture, the DS-SBMOS devices can be successfully scaled down, making them promising candidates for next-generation CMOS devices. (paper)
White, Brandi M; Jones, Walter J; Moran, William P; Simpson, Kit N
Primary care access (PCA) for the homeless can prove challenging, especially during periods of economic distress. In the United States, the most recent recession may have presented additional barriers to accessing care. Limited safety-net resources traditionally used by the homeless may have also been used by the non-homeless, resulting in delays in seeking treatment for the homeless. Using hospitalizations for ambulatory care sensitivity (ACS) conditions as a proxy measure for PCA, this study investigated the recession's impact on PCA for the homeless and non-homeless in four states. The State Inpatient Databases were used to identify ACS admissions. Findings from this study indicate the recession was a barrier to PCA for homeless people who were uninsured. Ensuring that economically-disadvantaged populations have the ability to obtain insurance coverage is crucial to facilitating PCA. With targeted outreach efforts, the Affordable Care Act provides an opportunity for expanding coverage to the homeless.
Rivolta, C; Sweklo, E A; Berson, E L; Dryja, T P
Microdeletions Glu767(1-bp del), Thr967(1-bp del), and Leu1446(2-bp del) in the human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss. Each of these three frameshift mutations is predicted to lead to an unstable mRNA transcript that, if translated, would result in a truncated protein lacking the carboxy terminus. Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss. This single mutation was found in 4.5% of 224 patients with recessive RP, suggesting that USH2A could cause more cases of nonsyndromic recessive RP than does any other gene identified to date.
Claudio Ramos Conti
Full Text Available Recessions are recurring events in which most firms suffer severe impacts while others are less affected or may even prosper. Strategic management has made little progress in understanding such performance differences. In a scenario of decreased demand, intensified competition, and higher uncertainty, most firms try to survive by pro-cyclically cutting costs and investments. But firms could take advantage of undervalued resources in the market to counter-cyclically invest in new business opportunities to overtake competitors. We survey Brazilian firms in various industries about the 2008-2009 recession and analyze data using PLS-SEM. We find that while most firms pro-cyclically reduce costs and investments in recessions, a counter-cyclical strategy of investing in opportunities created by changes in the market enables superior performance. Most successful are firms with a propensity to recognize opportunities, an entrepreneurial orientation to invest, and the flexibility to efficiently implement investments.
Slayback, D. A.; Tucker, C. J.
We report on the systematic retreat of all glaciers in the tropics of the New World from the mid-1980s to the mid-2000s. These glaciers comprise 99% of the world’s tropical glaciers and occur in Bolivia, Peru, Ecuador, Colombia, Venezuela, and Mexico. It was necessary to use a large quantity of Landsat satellite data (124 images), selecting multiple images for every glacier for both epochs, to minimize confusion of glacier area with snow. Change in glacier extent was combined with a digital elevation model (DEM) to provide information on the elevation and aspect of areas of glacier recession. Overall, we found glacier recession of approximately 30% over twenty years, declining from ~2500 km2 from the mid-1980s to ~1800 km2 in the mid-2000s. In addition, there was a strong association of glacier recession with elevation and aspect. We discuss these trends in relation to hypothesized climatic influences.
Seymen, F; Lee, K-E; Koruyucu, M; Gencay, K; Bayram, M; Tuna, E B; Lee, Z H; Kim, J-W
Hereditary defects in tooth enamel formation, amelogenesis imperfecta (AI), can be non-syndromic or syndromic phenotype. Integrins are signaling proteins that mediate cell-cell and cell-extracellular matrix communication, and their involvement in tooth development is well known. The purposes of this study were to identify genetic cause of an AI family and molecular pathogenesis underlying defective enamel formation. We recruited a Turkish family with isolated AI and performed mutational analyses to clarify the underlying molecular genetic etiology. Autozygosity mapping and exome sequencing identified a novel homozygous ITGB6 transversion mutation in exon 4 (c.517G>C, p.Gly173Arg). The glycine at this position in the middle of the βI-domain is conserved among a wide range of vertebrate orthologs and human paralogs. Clinically, the enamel was generally thin and pitted with pigmentation. Thicker enamel was noted at the cervical area of the molars. In this study, we identified a novel homozygous ITGB6 mutation causing isolated AI, and this advances the understanding of normal and pathologic enamel development. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Posavec, Kristijan; Giacopetti, Marco; Materazzi, Marco; Birk, Steffen
A new method was developed and implemented into an Excel Visual Basic for Applications (VBAs) algorithm utilizing trigonometry laws in an innovative way to overlap recession segments of time series and create master recession curves (MRCs). Based on a trigonometry approach, the algorithm horizontally translates succeeding recession segments of time series, placing their vertex, that is, the highest recorded value of each recession segment, directly onto the appropriate connection line defined by measurement points of a preceding recession segment. The new method and algorithm continues the development of methods and algorithms for the generation of MRC, where the first published method was based on a multiple linear/nonlinear regression model approach (Posavec et al. 2006). The newly developed trigonometry-based method was tested on real case study examples and compared with the previously published multiple linear/nonlinear regression model-based method. The results show that in some cases, that is, for some time series, the trigonometry-based method creates narrower overlaps of the recession segments, resulting in higher coefficients of determination R 2 , while in other cases the multiple linear/nonlinear regression model-based method remains superior. The Excel VBA algorithm for modeling MRC using the trigonometry approach is implemented into a spreadsheet tool (MRCTools v3.0 written by and available from Kristijan Posavec, Zagreb, Croatia) containing the previously published VBA algorithms for MRC generation and separation. All algorithms within the MRCTools v3.0 are open access and available free of charge, supporting the idea of running science on available, open, and free of charge software. © 2017, National Ground Water Association.
S. H. Mernild
Full Text Available Landsat imagery was applied to elucidate glacier fluctuations of land- and marine-terminating outlet glaciers from the Greenland Ice Sheet (GrIS and local land-terminating glaciers and ice caps (GIC peripheral to the GrIS in the Ammassalik region, Southeast Greenland, during the period 1972–2011. Data from 21 marine-terminating glaciers (including the glaciers Helheim, Midgaard, and Fenris, the GrIS land-terminating margin, and 35 GIC were examined and compared to observed atmospheric air temperatures, precipitation, and reconstructed ocean water temperatures (at 400 m depth in the Irminger Sea. Here, we document that net glacier recession has occurred since 1972 in the Ammassalik region for all glacier types and sizes, except for three GIC. The land-terminating GrIS and GIC reflect lower marginal and areal changes than the marine-terminating outlet glaciers. The mean annual land-terminating GrIS and GIC margin recessions were about three to five times lower than the GrIS marine-terminating recession. The marine-terminating outlet glaciers had an average net frontal retreat for 1999–2011 of 0.098 km yr−1, which was significantly higher than in previous sub-periods 1972–1986 and 1986–1999. For the marine-terminating GrIS, the annual areal recession rate has been decreasing since 1972, while increasing for the land-terminating GrIS since 1986. On average for all the observed GIC, a mean net frontal retreat for 1986–2011 of 0.010 ± 0.006 km yr−1 and a mean areal recession of around 1% per year occurred; overall for all observed GIC, a mean recession rate of 27 ± 24% occurred based on the 1986 GIC area. Since 1986, five GIC melted away in the Ammassalik area.
Declercq, Bruno; Delarue, Erik; D'haeseleer, William
This paper investigates the impact of the economic recession on CO 2 emissions in the European power sector, during the years 2008 and 2009. Three main determinants of the power sector's emissions are identified: the demand for electricity, the CO 2 price, and fuel prices. A counterfactual scenario has been set up for each of these, i.e., what these parameters would have been if not affected by the recession. A simulation model of the European power sector is then employed, comparing a historical reference simulation (taking the parameters as actually occurred) with the counterfactual scenarios. The lower electricity demand (due to the recession) is shown to have by far the largest impact, accounting for an emission reduction of about 175 Mton. The lower CO 2 price (due to the recession) resulted in an increase in emissions by about 30 Mton. The impact of fuel prices is more difficult to retrieve; an indicative reduction of about 17 Mton is obtained, mainly as a consequence of the low gas prices in 2009. The simulated combined impact of the parameters results in an emission reduction of about 150 Mton in the European power sector over the years 2008 and 2009 as a consequence of the recession. - Research highlights: → CO 2 emissions are simulated for the European power sector. → Emissions reduced drastically because of the economic recession in 2008 and 2009. → Lower electricity demand had highest impact and accounts for reduction of about 175 Mton. → Impact of different CO 2 and fuel prices on emissions is more limited.
Rosema, N A M; Adam, R; Grender, J M; Van der Sluijs, E; Supranoto, S C; Van der Weijden, G A
To assess gingival recession (GR) in manual and power toothbrush users and evaluate the relationship between GR and gingival abrasion scores (GA). 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. 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). 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. © 2014 The Authors International Journal of Dental Hygiene Published by John Wiley & Sons Ltd.
Mark Weisbrot; Rebecca Ray
The Latvian recession, which is now more than two years old, has seen a world-historical drop in GDP of more than 25 percent. The IMF projects another 4 percent drop this year, and predicts that the total loss of output from peak to bottom will reach 30 percent. This would make Latvia’s loss more than that of the U.S. Great Depression downturn of 1929-1933. This paper argues that the depth of the recession and the difficulty of recovery are attributable in large part to the decision to mainta...
Mahajan, D.; Votruba, Marcela
NR2E3 is a gene that encodes for photoreceptor cell specific nuclear receptor, which is involved in cone proliferation. The splice site mutation 119-2A>C in NR2E3 (15q23) has been previously reported to underlie recessive enhanced cone S sensitivity syndrome, clumped pigmentary retinal degeneration, Goldman-Favre syndrome and also autosomal dominant and autosomal recessive retinitis pigmentosa (RP). However, the mutation c 571 + 2 T > C in NR2E3 has not been previously reported with retinal d...
Full Text Available This paper explores the findings regarding the impact of recession that began in 2008 in Slovenia to the chosen parameters of quality of regional centres, which are reflected in their attractiveness. We wanted to test the assumption of the impact of recession to the attractiveness of regional centres to both internal migration and commuting flows. To this end, an adjusted gravity spatial interaction model was developed by evaluating regression coefficients. We analysedthe impacts of population size, distance, employment, gross personal income, municipality revenue per capita, average price per square metre of apartments and houses, and age structure in the municipality pertaining to the decision to potentially migrate or commute related to the migration and choice of workplace in the regional centre. The impact of the recession was analysed by comparing the estimations of regression coefficients before the recession (2007 and duringthe recession (2011. It is shown that during the recession, internal migrations to regional centres increased considerably, while commuting to regional centres did not change significantly. We alsoshowed that during the recession, the impact of the distance to the decision to migrate to regional centres slightly increased, while the impact of the distance to the decision to commute did not changesignificantly. Notably, during the crisis the impact of municipality revenue per capita in the regional centre to the analysed flows changed the most: during the recession, the decision to migrate and/orcommute to 'more prosperous' regional centres is made more easily.In the future, it is to be expected that local self-governments will make more effort to consider how to attract taxpayers to their local community and hence enrich the community, while the analysis of theseparameters will become more significant for the individual levels of the local self-government. Gravity models, such as the one used here, include different
Sahana, Goutam; Nielsen, Ulrik Sander; Aamand, Gert Pedersen
harboring possible recessive lethal alleles. Effects of the identified haplotypes were estimated on two fertility traits: non-return rates and calving interval. Out of the eight identified genomic regions, six regions were confirmed as having an effect on fertility. The information can be used to avoid......Using genomic data, lethal recessives may be discovered from haplotypes that are common in the population but never occur in the homozygote state in live animals. This approach only requires genotype data from phenotypically normal (i.e. live) individuals and not from the affected embryos that die...
Full Text Available Aim : The study aimed to determine the incidence of gingival recession in the mandibular central incisor region among school children aged 10-15 years in Udaipur (India. Materials and Methods : A sample of 1800 males and female kids were examined in a mobile dental unit. World Health Organisation (WHO rules and standards were followed. Result : Gingival recession, when compared, with respect to age, mean clinical crown length, anterior crowding and frenal involvement was significant (p less than 0.00 with respect to affected teeth.
Full Text Available Gingival recession is a condition that affects a large portion of the young and adult population and negatively affects the aesthetic aspects of the smile. Many factors are related to its development, including orthodontic movement beyond the osseous limits. Many treatment options have been proposed to cover the exposed root surface. The aim of this article was to describe three cases where a subepithelial connective tissue graft was performed, using a microsurgical technique, in the treatment of deep gingival recession after orthodontic treatment. This technique resulted in successful root coverage and keratinized tissue gain, improving the gingival esthetic pattern.
Seita, John R.
Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…
Bart, Ryan; Hope, Allen
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.
Cali E Willet
Full Text Available Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect. In this study, spondylocostal dysostosis in an outbred family of miniature schnauzer dogs is described. Computed tomography demonstrated that the condition mirrors the skeletal defects observed in human cases, but unlike most human cases, the affected dogs were stillborn or died shortly after birth. Through gene mapping and whole genome sequencing, we identified a single-base deletion in the coding region of HES7. The frameshift mutation causes loss of functional domains essential for the oscillatory transcriptional autorepression of HES7 during somitogenesis. A restriction fragment length polymorphism test was applied within the immediate family and supported a highly penetrant autosomal recessive mode of inheritance. The mutation was not observed in wider testing of 117 randomly sampled adult miniature schnauzer and six adult standard schnauzer dogs; providing a significance of association of Praw = 4.759e-36 (genome-wide significant. Despite this apparently low frequency in the Australian population, the allele may be globally distributed based on its presence in two unrelated sires from geographically distant locations. While isolated hemivertebrae have been observed in a small number of other dog breeds, this is the first clinical and genetic diagnosis of spontaneously occurring spondylocostal dysostosis in a non-human mammal and offers an excellent model in which to study this devastating human disorder. The genetic test can be utilized by dog breeders to select away from the disease and avoid unnecessary neonatal losses.
Willet, Cali E; Makara, Mariano; Reppas, George; Tsoukalas, George; Malik, Richard; Haase, Bianca; Wade, Claire M
Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect. In this study, spondylocostal dysostosis in an outbred family of miniature schnauzer dogs is described. Computed tomography demonstrated that the condition mirrors the skeletal defects observed in human cases, but unlike most human cases, the affected dogs were stillborn or died shortly after birth. Through gene mapping and whole genome sequencing, we identified a single-base deletion in the coding region of HES7. The frameshift mutation causes loss of functional domains essential for the oscillatory transcriptional autorepression of HES7 during somitogenesis. A restriction fragment length polymorphism test was applied within the immediate family and supported a highly penetrant autosomal recessive mode of inheritance. The mutation was not observed in wider testing of 117 randomly sampled adult miniature schnauzer and six adult standard schnauzer dogs; providing a significance of association of Praw = 4.759e-36 (genome-wide significant). Despite this apparently low frequency in the Australian population, the allele may be globally distributed based on its presence in two unrelated sires from geographically distant locations. While isolated hemivertebrae have been observed in a small number of other dog breeds, this is the first clinical and genetic diagnosis of spontaneously occurring spondylocostal dysostosis in a non-human mammal and offers an excellent model in which to study this devastating human disorder. The genetic test can be utilized by dog breeders to select away from the disease and avoid unnecessary neonatal losses.
Marple, Stacy Ann
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,…
Shores, Kenneth; Steinberg, Matthew P.
The Great Recession was the most severe economic downturn in the United States since the Great Depression. Using newly available population-level achievement data from the Stanford Education Data Archive (SEDA), we estimate the impact of the Great Recession on the math and English language arts (ELA) achievement of all grade 3-8 students in the…
Brint, Steven; Yoshikawa, Sarah R. K.; Rotondi, Matthew B.; Viggiano, Tiffany; Maldonado, John
Press reports and industry statistics both give incomplete pictures of the outcomes of the Great Recession for U.S. four-year colleges and universities. To address these gaps, we conducted a statistical analysis of all articles that appeared in Lexis-Nexis on a sample of more than 300 U.S. colleges and universities during the Recession years. We…
Klevering, B.J.; Blankenagel, A.; Maugeri, A.; Cremers, F.P.M.; Hoyng, C.B.; Rohrschneider, K.
PURPOSE: To describe the phenotype of 12 patients with autosomal recessive or isolated cone-rod types of progressive retinal degeneration (CRD) caused by mutations in the ABCA4 gene. METHODS: The charts of patients who had originally received a diagnosis of isolated or autosomal recessive CRD were
Harper, Sam; Bruckner, Tim A
Research suggests that the Great Recession of 2007-2009 led to nearly 5000 excess suicides in the United States. However, prior work has not accounted for seasonal patterning and unique suicide trends by age and gender. We calculated monthly suicide rates from 1999 to 2013 for men and women aged 15 and above. Suicide rates before the Great Recession were used to predict the rate during and after the Great Recession. Death rates for each age-gender group were modeled using Poisson regression with robust variance, accounting for seasonal and nonlinear suicide trajectories. There were 56,658 suicide deaths during the Great Recession. Age- and gender-specific suicide trends before the recession demonstrated clear seasonal and nonlinear trajectories. Our models predicted 57,140 expected suicide deaths, leading to 482 fewer observed than expected suicides (95% confidence interval -2079, 943). We found little evidence to suggest that the Great Recession interrupted existing trajectories of suicide rates. Suicide rates were already increasing before the Great Recession for middle-aged men and women. Future studies estimating the impact of recessions on suicide should account for the diverse and unique suicide trajectories of different social groups. Copyright © 2017 Elsevier Inc. All rights reserved.
London, Rebecca A.; Westrich, Lisa; Stokes-Guinan, Katie; McLaughlin, Milbrey
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,…
Usher, Alex; Dunn, Ryan
With the global recession in full effect, post-secondary education in Canada is about to face some very significant challenges. The purpose of this report is to outline the likely main effects of this global recession on the Canadian post-secondary education (PSE) sector, as well as suggest a series of measures that governments can take to help…
Herbert, Carol P.
The acronym IDEALS summarizes family physicians' obligations when violence is suspected: to identify family violence; document injuries; educate families and ensure safety for victims; access resources and coordinate care; co-operate in the legal process; and provide support for families. Failure to respond reflects personal and professional experience and attitudes, fear of legal involvement, and lack of knowledge. Risks of intervention include physician burnout, physician overfunctioning, escalation of violence, and family disruption. PMID:21228987
Khuzhakulov, S.M.; Uzakov, G.N.; Vardiyashvili, A.B
A new method for the regeneration of adsorbents using solar heating systems is proposed. It provides energy saving through the control of the gas composition and humidity in recessed fruit and vegetable storages. The effectiveness of solar heating systems, such as a 'hot box' for the regeneration of adsorbents in fruit and vegetable storages is shown. (author)
Li, Cuihong; Meng, Yonggang; Tian, Yu
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. (paper)
Plunkett, Andrea D.; Yampolsky, Lev Y.
We propose an experimental model suitable for demonstrating allele frequency change in Drosophila melanogaster populations caused by selection against an easily scorable conditional lethal, namely recessive flightless alleles such as apterous and vestigial. Homozygotes for these alleles are excluded from reproduction because the food source used…
Vite, C H; Melniczek, J; Patterson, D; Giger, U
Myotonia is a clinical sign characterized by a delay in skeletal muscle relaxation following electrical or mechanical stimulation. A series of related miniature schnauzer dogs with congenital myotonic myopathy were studied. A composite pedigree of six affected litters and the results of a planned breeding between two affected animals are consistent with an autosomal recessive mode of inheritance.
The current research, "Citizen Support for Northern Ohio Community College Funding Initiatives during an Economic Recession Recovery", asks the question: Do the citizens of Northern Ohio support community college funding during difficult economic times? Based on the theory of Stakeholder Analysis, the purpose of this concurrent,…
Baker, Bruce D.
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…
McWhorter, Bruce B.; Ewing, Mark E.; McCool, Alex (Technical Monitor)
Real-time char line recession measurements were made on propellant inhibitors of the Space Shuttle Reusable Solid Rocket Motor (RSRM). The RSRM FSM-8 static test motor propellant inhibitors (composed of a rubber insulation material) were successfully instrumented with eroding potentiometers and thermocouples. The data was used to establish inhibitor recession versus time relationships. Normally, pre-fire and post-fire insulation thickness measurements establish the thermal performance of an ablating insulation material. However, post-fire inhibitor decomposition and recession measurements are complicated by the fact that most of the inhibitor is back during motor operation. It is therefore a difficult task to evaluate the thermal protection offered by the inhibitor material. Real-time measurements would help this task. The instrumentation program for this static test motor marks the first time that real-time inhibitors. This report presents that data for the center and aft field joint forward facing inhibitors. The data was primarily used to measure char line recession of the forward face of the inhibitors which provides inhibitor thickness reduction versus time data. The data was also used to estimate the inhibitor height versus time relationship during motor operation.
Caulkins, J.P.; Feichtinger, G.; Grass, D.; Hartl, R.F.; Kort, P.M.; Seidl, A.
This paper considers the problem of how to price a conspicuous product when the economy is in a recession that disrupts capital markets. A conspicuous product in this context is a luxury good for which demand is increasing in brand image. Brand image here means the ability of a consumer to impress
Dubroc, Alicia M.
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…
van Dalen, H.P.; Henkens, K.
The present paper analyzes the choices faced by European employers when threatened with the prospect of the mass lay-off of their employees as a result of the Great Recession. By means of a representative survey among employers in Italy, Germany, Denmark, Poland, theNetherlands and Sweden in 2009,
van Dalen, H.P.; Henkens, K.
Summary The present paper analyzes the choices faced by European employers when threatened with the prospect of the mass lay-off of their employees as a result of the Great Recession. By means of a representative survey among employers in Italy, Germany, Denmark, Poland, the Netherlands and Sweden
At 18 months, the Great Recession of December 2007 to June 2009 is the longest recession since World War II. The recession led to soaring unemployment, resulting in loss of employment-based health insurance for millions of people. In addition to seeing increases in uninsured patients, hospitals experienced losses in their investment portfolios, which in turn increased bad debt, charity care, and uncompensated care nationwide. Hospital executives began to devise cost-cutting strategies to balance the rising debt, such as standardizing medical equipment, cutting staff positions, and delaying construction projects and capital expenditures as well as implementing value analysis strategies. The recession is officially over, and, although economic recovery has been slow and unemployment continues to be an issue, hospitals' net revenue started improving as of 2009 and hospital construction started increasing in 2010. Still, caution is warranted in the postrecession climate, because it is unknown what effects will be seen when the Baby Boomer generation begins using Medicare. Copyright © 2014 AORN, Inc. Published by Elsevier Inc. All rights reserved.
Serenari, Christopher; Peterson, M. Nils; Bardon, Robert E.; Brown, Robert D.
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…
Skinner, Richard A.; Miller, Emily R.
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…
Hilbun, Ashlie Junot; Mamiseishvili, Ketevan
The study we report here explored how private liberal arts colleges adapted to the Great Recession of 2007. We examined institutional changes at three private liberal arts colleges and their effects on the institutions' operations. For this multiple-case study we analyzed data from three colleges in the southeastern region of the United States;…
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…
Brakman, S.; van Marrewijk, J.G.M.; Partridge, Mark
Using a novel data set for 207 European regions from 22 different countries, we analyse the relevance of urbanisation for the short-term resilience to a major shock. We take the Great Recession, the economic and financial crisis that started in 2008, as our shock and analyse how the European NUTS 2
Carlson, Corey W.
The community college, like all of higher education, has been significantly impacted by the Great Recession and coincidental increased enrollment. The purpose of this qualitative study was to examine the decision making processes of community college presidents as related to resource allocation and the impact of these decisions on the…
van Dalen, H.P.; Henkens, C.J.I.M.
The present paper analyzes the choices faced by European employers when threatened with the prospect of the mass lay-off of their employees as a result of the Great Recession. By means of a representative survey among employers in Italy, Germany, Denmark, Poland, the Netherlands and Sweden in 2009,
van Dalen, H.P.; Henkens, K.
The present paper analyzes the choices faced by European employers when threatened with the prospect of the mass lay-off of their employees as a result of the Great Recession. By means of a representative survey among employers in Italy, Germany, Denmark, Poland, the Netherlands and Sweden in 2009,
Levy, Brian L; Mouw, Ted; Daniel Perez, Anthony
Labor migration offers an important mechanism to reallocate workers when there are regional differences in employment conditions. Whereas conventional wisdom suggests migration rates should increase during recessions as workers move out of areas that are hit hardest, initial evidence suggested that overall migration rates declined during the Great Recession, despite large regional differences in unemployment and growth rates. In this paper, we use data from the American Community Survey to analyze internal migration trends before and during the economic downturn. First, we find only a modest decline in the odds of adults leaving distressed labor market areas during the recession, which may result in part from challenges related to the housing price crash. Second, we estimate conditional logit models of destination choice for individuals who migrate across labor market areas and find a substantial effect of economic factors such as labor demand, unemployment, and housing values. We also estimate latent class conditional logit models that test whether there is heterogeneity in preferences for destination characteristics among migrants. Over all, the latent class models suggest that roughly equal percentages of migrants were motivated by economic factors before and during the recession. We conclude that fears of dramatic declines in labor migration seem to be unsubstantiated.
Goldhaber, Dan; Strunk, Katharine O.; Brown, Nate; Knight, David S.
One consequence of the Great Recession is that teacher layoffs occurred at a scale previously unseen. In this article, we assess the effects of receiving a layoff notice on teacher mobility using data from Los Angeles and Washington State. Our analyses are based on 6-year panels of data in each site, including 4 years of layoffs. We find that the…
Hajlasz, M.; Donkers, J.J.T.M.; Sque, S.J.; Heil, S.B.S.; Gravesteijn, Dirk J; Rietveld, F.J.R.; Schmitz, Jurriaan
In this work the choice of appropriate test structures and characterization methods for recessed Ohmic contacts to AlGaN/GaN is discussed. It is shown that, in the worst-case scenario, the prevailing assumption of identical sheet resistance between and under the contacts can lead to errors of up to
Johansen, J D; Ramsing, D; Vejlsgaard, G
Patients with X-linked recessive ichthyosis (RXLI) were studied as a model of the effect of disturbed epidermal lipid composition on skin barrier function. Thirteen patients with RXLI and 15 age- and sex-matched controls were patch-tested with sodium lauryl sulphate (SLS) 0.5% for 24 h. Basal skin...
Schoon, Ingrid; Mortimer, Jeylan
This special section brings together leading experts in psychology and sociology to examine the consequences of the Great Recession for young people's values, achievement orientation, and outlook to the future. Evidence from Europe and the United States suggests that the impact of the recession varies for distinct outcomes and by age, the latter pointing to potential sensitive periods for interventions. Although the direct effects of the recession are not strong, they accelerate pre-existing trends towards more prolonged and precarious transitions to independence, and are likely to bring with them long-term scarring with respect to health and well-being. While feelings of self-confidence and self-worth have eroded, young people continue to subscribe to the "American Dream," the belief that in principle it is possible to make it - even if limitations to one's own capabilities are recognised. Trust in institutions has declined, but support and concern for others have increased, suggesting that in times of economic hardship and uncertainty social relationships become more salient. Young people's response to the recession appears to be less of a "me-first" reaction than "let's help each other": a form of "collective agency" to counter the inadequacy of social safety nets. © 2016 International Union of Psychological Science.
Lv, Yuanjie; Mo, Jianghui; Song, Xubo; He, Zezhao; Wang, Yuangang; Tan, Xin; Zhou, Xingye; Gu, Guodong; Guo, Hongyu; Feng, Zhihong
Gallium oxide (Ga2O3) metal-oxide-semiconductor field-effect transistors (MOSFETs) were fabricated with gate recess depths of 110 nm and 220 nm, respectively. The gate recess was formed by dry plasma etching with Cr metal as the mask. The fabricated devices with a 25-nm HfO2 gate dielectric both showed a low off-state drain current of about 1.8 × 10-10 A/mm. The effects of recess depth on the electronic characteristics of Ga2O3 MOSFETs were investigated. Upon increasing the recess depth from 110 nm to 220 nm, the saturated drain current decreased from 20.7 mA/mm to 2.6 mA/mm, while the threshold voltage moved increased to +3 V. Moreover, the breakdown voltage increased from 122 V to 190 V. This is mainly because the inverted-trapezoidal gate played the role of a gate-field plate, which suppressed the peak electric field close to the gate.
Leopold, Christine; Mantel-Teeuwisse, Aukje K; Vogler, Sabine; Valkova, Silvia; de Joncheere, Kees; Leufkens, Hubert G M; Wagner, Anita K; Ross-Degnan, Dennis; Laing, Richard
OBJECTIVE: To identify pharmaceutical policy changes during the economic recession in eight European countries and to determine whether policy measures resulted in lower sales of, and less expenditure on, pharmaceuticals. METHODS: Information on pharmaceutical policy changes between 2008 and 2011 in
Brian L. Levy
Full Text Available Labor migration offers an important mechanism to reallocate workers when there are regional differences in employment conditions. Whereas conventional wisdom suggests migration rates should increase during recessions as workers move out of areas that are hit hardest, initial evidence suggested that overall migration rates declined during the Great Recession, despite large regional differences in unemployment and growth rates. In this paper we use data from the American Community Survey to analyze internal migration trends before and during the economic downturn. First, we find only a modest decline in the odds of adults leaving distressed labor market areas during the Great Recession, which may result in part from challenges related to the housing price crash. Second, we estimate conditional logit models of destination choice for individuals who migrate across labor market areas; we find a substantial effect of economic factors such as labor demand, unemployment, and housing values. We also estimate latent class conditional logit models that test whether there is heterogeneity in preferences for destination characteristics among migrants. Over all, the latent class models suggest that roughly equal percentages of migrants were motivated by economic factors before and during the Great Recession. We conclude that fears of dramatic declines in labor migration seem to be unsubstantiated.
Nguyen, Ha; Rezaei, Shawheen
This paper explores the spillover effects of job losses via input linkages during the Great Recession. Exploiting exogenous variation in tradable employment shocks across U.S. counties, the paper finds that job losses in the tradable sectors cause further job losses in local supporting services. The result is not due to reverse causation, construction job losses, or credit shortages. In ad...
Johnson, Monica Kirkpatrick; Staff, Jeremy; Patrick, Megan E.; Schulenberg, John E.
This study examines the impact of the “Great Recession” as well as previous recessions in 1991 and 2001 on 8th and 10th graders in the U.S, using annual nationally representative data from the Monitoring the Future study. Historical changes in youth adjustment (self-esteem, depressed mood, risk taking, aggression, and property crime), school achievement (grade point average, time spent on homework, and educational expectations), and structured and unstructured activities (volunteering, employment, sports, and evenings out for fun) were examined between 1991 and 2014. Overall, there were only slight changes in mean levels of adjustment, achievement, and most youth activities. However, the percentage of youth working during the school year did decline during the Great Recession. Several longer term trends were also evident, though not directly tied to recessions. These include an increase in GPA, a decrease in time spent on homework, rising educational expectations, and more time spent volunteering. Future work should assess how the shift to unpaid work activities (e.g., volunteering and internships) among youth is impacting the transition from school to work in the contemporary economy, and whether the Great Recession had deleterious impacts for younger children or among youth whose parents lost work or had their homes foreclosed. PMID:27709614
Johnson, Monica Kirkpatrick; Staff, Jeremy; Patrick, Megan E; Schulenberg, John E
This study examines the impact of the "Great Recession" (from December 2007 to June 2009) on 8th and 10th graders in the USA, using annual nationally representative data from the Monitoring the Future study. Historical changes in youth adjustment (self-esteem, depressed mood, risk taking, aggression and property crime), school achievement (grade point average [GPA], time spent on homework and educational expectations) and structured and unstructured activities (volunteering, employment, sports and evenings out for fun) were examined between 1991 and 2014. Overall, there were only slight changes in mean levels of adjustment, achievement and most youth activities. However, the percentage of youth working during the school year did decline during the Great Recession. Several longer-term trends were also evident, though not directly tied to the Great Recession. These include an increase in GPA, a decrease in time spent on homework, rising educational expectations and more time spent volunteering. Future work should assess how the shift to unpaid work activities (e.g. volunteering and internships) among youth is impacting the transition from school to work in the contemporary economy, and whether the Great Recession had deleterious impacts for younger children or among youth whose parents lost work or had their homes foreclosed. © 2016 International Union of Psychological Science.
Wyver, Shirley; Engelen, Lina; Bundy, Anita; Naughton, Geraldine
An assumption made when designing recess interventions in schools is that there is a clear demarcation between eating time and play time. We used observational data conducted as part of the Sydney Playground Project to test if this assumption was correct. The Sydney Playground Project is a cluster randomised controlled trial of a recess…
Peters, Michael A.; Besley, Tina
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.
In the wake of the deep recession of 2008 and 2009, there has been increased concern over the current level of financial literacy among American citizens. For many, this concern extends to our college students getting ready to enter the real world as they leave college life behind. This study looks at the preparedness of college students to manage…
Rudden, Michael S.
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…
Security Classification) Mtutagenic potential of nitroguan idine in the Drosophila melano- gaster sex-linked recessive lethal test 12. PERSONAL AUTHOR(S...Frederick, MD 21701-5012 Commander Commandant US Army Environmental Hygine Academy of Health Sciences. US Army Agency ATTN: AHS-CDM ATTN: Librarian, HSDH
After years of growth and predictions that fund raising for higher education would escape the brunt of the economic crash, the recession has started to affect colleges' efforts to raise money, according to a survey by "The Chronicle" and Moody's Investors Service. Predictions are that 2009 may be an even tougher year for fund raisers, with…
Frömel, Karel; Svozil, Zbynek; Chmelík, František; Jakubec, Lukáš; Groffik, Dorota
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 =…
Bleeker, Martha; Beyler, Nicholas; James-Burdumy, Susanne; Fortson, Jane
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. Twenty-nine schools were randomly assigned to receive Playworks for 1 school year or serve as a control group. Postintervention physical activity data were collected via accelerometers and recess observations. Impacts were estimated separately for girls and boys using regression models. Girls in Playworks schools had significantly higher accelerometer intensity counts and spent more time in vigorous physical activity than girls in control schools. No significant differences based on accelerometer data were found for boys. A significant impact was also found on the types of activities in which girls engaged during recess; girls in the treatment group were less likely than those in the control group to be sedentary and more likely to engage in jumping, tag, and playground games. The current findings suggest that Playworks had a significant impact on some measures of girls' physical activity, but no significant impact on measures of boys' physical activity. © 2015, American School Health Association.
Baquet, Georges; Ridgers, Nicola D; Blaes, Aurélie; Aucouturier, Julien; Van Praagh, Emmanuel; Berthoin, Serge
The school environment influences children's opportunities for physical activity participation. The aim of the present study was to assess objectively measured school recess physical activity in children from high and low socioeconomic backgrounds. Four hundred and seven children (6-11 years old) from 4 primary schools located in high socioeconomic status (high-SES) and low socioeconomic status (low-SES) areas participated in the study. Children's physical activity was measured using accelerometry during morning and afternoon recess during a 4-day school week. The percentage of time spent in light, moderate, vigorous, very high and in moderate- to very high-intensity physical activity were calculated using age-dependent cut-points. Sedentary time was defined as 100 counts per minute. Boys were significantly (p active than girls. No difference in sedentary time between socioeconomic backgrounds was observed. The low-SES group spent significantly more time in light (p physical activity compared to the high-SES group. High-SES boys and girls spent significantly more time in moderate (p physical activity than low-SES boys. Differences were observed in recess physical activity levels according to socioeconomic background and sex. These results indicate that recess interventions should target children in low-SES schools.