New developments in Silver–Russell syndrome and implications for clinical practice

PubMed Central

Ishida, Miho

2016-01-01

Silver–Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. It is one of the imprinting disorders, which results as a consequence of aberrant imprinted gene expressions. Currently, maternal uniparental disomy of chromosome 7 accounts for approximately 10% of Silver–Russell syndrome cases, while ˜50% of patients have hypomethylation at imprinting control region 1 at chromosome 11p15.5 locus, leaving ˜40% of cases with unknown etiologies. This review aims to provide a comprehensive list of molecular defects in Silver–Russell syndrome reported to date and to highlight the importance of multiple-loci/tissue testing and trio (both parents and proband) screening. The epigenetic and phenotypic overlaps with other imprinting disorders will also be discussed. PMID:27066913

Cognitive development in Silver-Russell syndrome: a sibling-controlled study.

PubMed

Noeker, Meinolf; Wollmann, Hartmut A

2004-05-01

This study examined cognitive development in Silver-Russell syndrome (SRS), a condition with intrauterine growth retardation, persisting short stature, and specific stigmata. Neuropsychological function and cognitive abilities were assessed in a sample of 36 children with SRS (21 males, 15 females; mean age 7 years 6 months, SD 2 years 8 months; age range 3 to 12 years) and 25 normally developing siblings (mean age 8 years 6 months, SD 2 years 7 months; age range 3 to 12 years) using the Kaufman Assessment Battery for Children. Special measures were taken to control for confounding factors and sample bias. Mean overall IQ score in the total SRS sample (95.7, SD 10.63), as measured by the Mental Processing Composite Scale, was significantly reduced (p=0.021) compared with test norms (IQ 100, SD 15), indicating a moderate cognitive impairment. Subscale analysis revealed some specific deficiencies. However, these cannot be attributed to an established category of specific learning disorder. The mean score in the Achievement Scale (91.25, SD 14.92), which is more sensitive to educational influences, showed stronger deficits (p=0.001). The sibling control group achieved a slightly better mean IQ score (104.20, SD 12.32) than test norms (p=0.10). Direct analysis of paired differences between the subsample of children with SRS and a sibling among the control group (n=25) revealed a significant mean difference of 8.08 IQ points (p=0.011). Risk factor analysis revealed that cognitive development is not associated with birth length (p=0.404), birthweight (p=0.820), growth hormone therapy (p=0.810), phenotypic severity (p=0.828), or sex (p=0.880). Two children with maternal uniparental disomy for the entire chromosome 7 had markedly lower IQ scores (81 and 84 respectively). In contrast to the few previous findings, children with SRS show only moderate, but significant, impairments in cognitive outcome, which are more striking in our sample when compared with siblings than

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome.

PubMed

Azzi, Salah; Salem, Jennifer; Thibaud, Nathalie; Chantot-Bastaraud, Sandra; Lieber, Eli; Netchine, Irène; Harbison, Madeleine D

2015-07-01

Multiple clinical scoring systems have been proposed for Silver-Russell syndrome (SRS). Here we aimed to test a clinical scoring system for SRS and to analyse the correlation between (epi)genotype and phenotype. Sixty-nine patients were examined by two physicians. Clinical scores were generated for all patients, with a new, six-item scoring system: (1) small for gestational age, birth length and/or weight ≤-2SDS, (2) postnatal growth retardation (height ≤-2SDS), (3) relative macrocephaly at birth, (4) body asymmetry, (5) feeding difficulties and/or body mass index (BMI) ≤-2SDS in toddlers; (6) protruding forehead at the age of 1-3 years. Subjects were considered to have likely SRS if they met at least four of these six criteria. Molecular investigations were performed blind to the clinical data. The 69 patients were classified into two groups (Likely-SRS (n=60), Unlikely-SRS (n=9)). Forty-six Likely-SRS patients (76.7%) displayed either 11p15 ICR1 hypomethylation (n=35; 58.3%) or maternal UPD of chromosome 7 (mUPD7) (n=11; 18.3%). Eight Unlikely-SRS patients had neither ICR1 hypomethylation nor mUPD7, whereas one patient had mUPD7. The clinical score and molecular results yielded four groups that differed significantly overall and for individual scoring system factors. Further molecular screening led identifying chromosomal abnormalities in Likely-SRS-double-negative and Unlikely-SRS groups. Four Likely-SRS-double negative patients carried a DLK1/GTL2 IG-DMR hypomethylation, a mUPD16; a mUPD20 and a de novo 1q21 microdeletion. This new scoring system is very sensitive (98%) for the detection of patients with SRS with demonstrated molecular abnormalities. Given its clinical and molecular heterogeneity, SRS could be considered as a spectrum. 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.

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

PubMed Central

Azzi, Salah; Salem, Jennifer; Thibaud, Nathalie; Chantot-Bastaraud, Sandra; Lieber, Eli; Netchine, Irène; Harbison, Madeleine D

2015-01-01

Background Multiple clinical scoring systems have been proposed for Silver-Russell syndrome (SRS). Here we aimed to test a clinical scoring system for SRS and to analyse the correlation between (epi)genotype and phenotype. Subjects and methods Sixty-nine patients were examined by two physicians. Clinical scores were generated for all patients, with a new, six-item scoring system: (1) small for gestational age, birth length and/or weight ≤−2SDS, (2) postnatal growth retardation (height ≤−2SDS), (3) relative macrocephaly at birth, (4) body asymmetry, (5) feeding difficulties and/or body mass index (BMI) ≤−2SDS in toddlers; (6) protruding forehead at the age of 1–3 years. Subjects were considered to have likely SRS if they met at least four of these six criteria. Molecular investigations were performed blind to the clinical data. Results The 69 patients were classified into two groups (Likely-SRS (n=60), Unlikely-SRS (n=9)). Forty-six Likely-SRS patients (76.7%) displayed either 11p15 ICR1 hypomethylation (n=35; 58.3%) or maternal UPD of chromosome 7 (mUPD7) (n=11; 18.3%). Eight Unlikely-SRS patients had neither ICR1 hypomethylation nor mUPD7, whereas one patient had mUPD7. The clinical score and molecular results yielded four groups that differed significantly overall and for individual scoring system factors. Further molecular screening led identifying chromosomal abnormalities in Likely-SRS-double-negative and Unlikely-SRS groups. Four Likely-SRS-double negative patients carried a DLK1/GTL2 IG-DMR hypomethylation, a mUPD16; a mUPD20 and a de novo 1q21 microdeletion. Conclusions This new scoring system is very sensitive (98%) for the detection of patients with SRS with demonstrated molecular abnormalities. Given its clinical and molecular heterogeneity, SRS could be considered as a spectrum. PMID:25951829

Type 1 collagenopathy presenting with a Russell-Silver phenotype.

PubMed

Parker, Michael J; Deshpande, Charulata; Rankin, Julia; Wilson, Louise C; Balasubramanian, Meena; Hall, Christine M; Wagner, Bart E; Pollitt, Rebecca; Dalton, Ann; Bishop, Nicholas J

2011-06-01

Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. It exhibits a broad spectrum of clinical severity, ranging from multiple fractures in utero and perinatal death, to normal adult stature and low fracture incidence. Extra-skeletal features of OI include blue sclera, hearing loss, skin hyperlaxity, joint hyperextensibility, and dentinogenesis imperfecta. The proα1(I) and proα2(I) chains of collagen 1 are encoded by the COL1A1 and COL1A2 genes, respectively; quantitative or qualitative defects in type I collagen synthesis usually manifest as types of OI or some sub-types of EDS. The majority of patients (about 90%) with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes, which shows an autosomal dominant pattern of inheritance. Six other genes, CRTAP, LEPRE1, FKBP10, PP1B, SP7/Osterix (OSX), and SERPINH1, are associated with autosomal recessive forms of OI. However, other, rare phenotypes have also been described. There are many differential diagnoses of the short, syndromic child, including chromosomal, single gene, and multifactorial causes. However, one condition of particular relevance in the context of this report is the Russell-Silver syndrome (RSS). As originally described, the RSS is a very specific condition. However, it has subsequently become an umbrella term for a heterogeneous group of conditions presenting with short stature and triangular shape to the face. A significant proportion of these are now believed to be due to imprinting defects at 11p15. However, the cause in many cases remains unknown. We describe two cases with a phenotypic overlap between OI and RSS who both have COL1A1 mutations. Thus, a type 1 collagenopathy should be considered in the differential diagnosis of syndromic short stature. Copyright © 2011 Wiley-Liss, Inc.

3-M syndrome: description of six new patients with review of the literature.

PubMed

van der Wal, G; Otten, B J; Brunner, H G; van der Burgt, I

2001-10-01

3-M syndrome combines pre- and postnatal growth retardation and dysmorphic facial features with autosomal recessive inheritance. Six new patients with 3-M syndrome are described and compared with 28 cases from the literature. Our six patients have a growth pattern, which parallels that of Silver-Russell syndrome (SRS). Final height is ISD less in 3-M syndrome than in SRS. Growth hormone treatment significantly increased final height in two of our patients. 3-M syndrome can be differentiated from other types of dwarfism by clinical criteria and by the demonstration of characteristically slender long bones and foreshortened vertebral bodies. We propose that calculating the metacarpal and vertebral indices can be used to measure and document this important diagnostic feature. While the gonadal status of female patients with 3-M syndrome is completely normal, male patients have a gonadal dysfunction and sub- or infertility.

Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome.

PubMed

Azzi, Salah; Steunou, Virginie; Tost, Jörg; Rossignol, Sylvie; Thibaud, Nathalie; Das Neves, Cristina; Le Jule, Marilyne; Habib, Walid Abi; Blaise, Annick; Koudou, Yves; Busato, Florence; Le Bouc, Yves; Netchine, Irène

2015-01-01

The structural organisation of the human IGF2/ICR1/H19 11p15 domain is very complex, and the mechanisms underlying its regulation are poorly understood. The Imprinted Center Region 1 (ICR1) contains seven binding sites for the zinc-finger protein CTCF (CBS: CTCF Binding Sites); three additional differentially methylated regions (DMR) are located at the H19 promoter (H19DMR) and two in the IGF2 gene (DMR0 and DMR2), respectively. Loss of imprinting at the IGF2/ICR1/H19 domain results in two growth disorders with opposite phenotypes: Beckwith-Wiedemann syndrome and Russell Silver syndrome (RSS). Despite the IGF2/ICR1/H19 locus being widely studied, the extent of hypomethylation across the domain remains not yet addressed in patients with RSS. We assessed a detailed investigation of the methylation status of the 11p15 ICR1 CBS1-7, IGF2DMR0 and H19DMR (H19 promoter) in a population of controls (n=50) and RSS carrying (n=104) or not (n=65) carrying a hypomethylation at the 11p15 ICR1 region. The methylation indexes (MI) were balanced at all regions in the control population and patients with RSS without any as yet identified molecular anomaly. Interestingly, patients with RSS with ICR1 hypomethylation showed uneven profiles of methylation among the CBSs and DMRs. Furthermore, normal MIs at CBS1 and CBS7 were identified in 9% of patients. The hypomethylation does not spread equally throughout the IGF2/ICR1/H19 locus, and some loci could have normal MI, which may lead to underdiagnosis of patients with RSS with ICR1 hypomethylation. The uneven pattern of methylation suggests that some CBSs may play different roles in the tridimensional chromosomal looping regulation of this locus. 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.

Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes.

PubMed

Azzi, Salah; Steunou, Virginie; Rousseau, Alexandra; Rossignol, Sylvie; Thibaud, Nathalie; Danton, Fabienne; Le Jule, Marilyne; Gicquel, Christine; Le Bouc, Yves; Netchine, Irène

2011-02-01

Many human syndromes involve a loss of imprinting (LOI) due to a loss (LOM) or a gain of DNA methylation (GOM). Most LOI occur as mosaics and can therefore be difficult to detect with conventional methods. The human imprinted 11p15 region is crucial for the control of fetal growth, and LOI at this locus is associated with two clinical disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS), characterized by fetal overgrowth and a high risk of tumors, and Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth restriction. Until recently, we have been using Southern blotting for the diagnosis of RSS and BWS. We describe here a powerful quantitative technique, allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), for the diagnosis of these two complex disorders. We first checked the specificity of the probes and primers used for ASMM RTQ-PCR. We then carried out statistical validation for this method, on both retrospective and prospective populations of patients. This analysis demonstrated that ASMM RTQ-PCR is more sensitive than Southern blotting for detecting low degree of LOI. Moreover, ASMM RTQ-PCR is a very rapid, reliable, simple, safe, and cost effective method. © 2011 Wiley-Liss, Inc.

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.

PubMed

Azzi, Salah; Rossignol, Sylvie; Steunou, Virginie; Sas, Theo; Thibaud, Nathalie; Danton, Fabienne; Le Jule, Maryline; Heinrichs, Claudine; Cabrol, Sylvie; Gicquel, Christine; Le Bouc, Yves; Netchine, Irene

2009-12-15

Genomic imprinting plays an important role in mammalian development. Loss of imprinting (LOI) through loss (LOM) or gain (GOM) of methylation is involved in many human disorders and cancers. The imprinted 11p15 region is crucial for the control of foetal growth and LOI at this locus is implicated in two clinically opposite disorders: Beckwith Wiedemann syndrome (BWS) with foetal overgrowth associated with an enhanced tumour risk and Russell-Silver syndrome (RSS) with intrauterine and postnatal growth restriction. So far, only a few studies have assessed multilocus LOM in human imprinting diseases. To investigate multilocus LOI syndrome, we studied the methylation status of five maternally and two paternally methylated loci in a large series (n = 167) of patients with 11p15-related foetal growth disorders. We found that 9.5% of RSS and 24% of BWS patients showed multilocus LOM at regions other than ICR1 and ICR2 11p15, respectively. Moreover, over two third of multilocus LOM RSS patients also had LOM at a second paternally methylated locus, DLK1/GTL2 IG-DMR. No additional clinical features due to LOM of other loci were found suggesting an (epi)dominant effect of the 11p15 LOM on the clinical phenotype for this series of patients. Surprisingly, four patients displayed LOM at both ICR1 and ICR2 11p15. Three of them had a RSS and one a BWS phenotype. Our results show for the first time that multilocus LOM can also concern RSS patients. Moreover, LOM can involve both paternally and maternally methylated loci in the same patient.

Syndromic Disorders with Short Stature

PubMed Central

Şıklar, Zeynep; Berberoğlu, Merih

2014-01-01

Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively. PMID:24637303

Twin Legacies: Victor and Vincent McKusick/Twin Studies: Twinning Rates I; Twinning Rates II; MZ Twin Discordance for Russell-Silver Syndrome; Twins' Language Skills/Headlines: Babies Born to Identical Twin Couples; Identity Exchange; Death of Princess Ashraf (Twin); Yahoo CEO Delivers Identical Twins.

PubMed

Segal, Nancy L

2016-04-01

The lives of the illustrious monozygotic (MZ) twins, Victor A. and Vincent L. McKusick, are described. Victor earned the distinction as the 'Father of Medical Genetics', while Vincent was a legendary Chief Justice of the Maine Supreme Court. This dual biographical account is followed by two timely reports of twinning rates, a study of MZ twin discordance for Russell-Silver Syndrome (RSS) and a study of twins' language skills. Twin stories in the news include babies born to identical twin couples, a case of switched identity, the death of Princess Ashraf (Twin) and a new mother of twins who is also Yahoo's CEO.

Genetic syndromes associated with overgrowth in childhood

PubMed Central

2013-01-01

Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future. PMID:24904861

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

PubMed

Russo, Silvia; Calzari, Luciano; Mussa, Alessandro; Mainini, Ester; Cassina, Matteo; Di Candia, Stefania; Clementi, Maurizio; Guzzetti, Sara; Tabano, Silvia; Miozzo, Monica; Sirchia, Silvia; Finelli, Palma; Prontera, Paolo; Maitz, Silvia; Sorge, Giovanni; Calcagno, Annalisa; Maghnie, Mohamad; Divizia, Maria Teresa; Melis, Daniela; Manfredini, Emanuela; Ferrero, Giovanni Battista; Pecile, Vanna; Larizza, Lidia

2016-01-01

Multiple (epi)genetic defects affecting the expression of the imprinted genes within the 11p15.5 chromosomal region underlie Silver-Russell (SRS) and Beckwith-Wiedemann (BWS) syndromes. The molecular diagnosis of these opposite growth disorders requires a multi-approach flowchart to disclose known primary and secondary (epi)genetic alterations; however, up to 20 and 30 % of clinically diagnosed BWS and SRS cases remain without molecular diagnosis. The complex structure of the 11p15 region with variable CpG methylation and low-rate mosaicism may account for missed diagnoses. Here, we demonstrate the relevance of complementary techniques for the assessment of different CpGs and the importance of testing multiple tissues to increase the SRS and BWS detection rate. Molecular testing of 147 and 450 clinically diagnosed SRS and BWS cases provided diagnosis in 34 SRS and 185 BWS patients, with 9 SRS and 21 BWS cases remaining undiagnosed and herein referred to as "borderline." A flowchart including complementary techniques and, when applicable, the analysis of buccal swabs, allowed confirmation of the molecular diagnosis in all borderline cases. Comparison of methylation levels by methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) in borderline and control cases defined an interval of H19/IGF2:IG-DMR loss of methylation that was distinct between "easy to diagnose" and "borderline" cases, which were characterized by values ≤mean -3 standard deviations (SDs) compared to controls. Values ≥mean +1 SD at H19/IGF2: IG-DMR were assigned to borderline hypermethylated BWS cases and those ≤mean -2 SD at KCNQ1OT1: TSS-DMR to hypomethylated BWS cases; these were supported by quantitative pyrosequencing or Southern blot analysis. Six BWS cases suspected to carry mosaic paternal uniparental disomy of chromosome 11 were confirmed by SNP array, which detected mosaicism till 10 %. Regarding the clinical presentation, borderline SRS were representative

[3M syndrome: case history].

PubMed

Fehlow, P

2006-01-01

This case report shall draw attention to a still little known syndrome of primordial nanism. It is important for the differential diagnosis on the genetic counselling, specially with regard to the Silver-Russell syndrome. A striking mentally retarded (I. Q. 54) 9-year-old boy with primordial proportionate short stature exhibited characteristic features of the 3M syndrome (MMM): pseudohydrocephalic dolichocephalia, short neck with protruding muscles, transversal furrow in the lower thorax, muscular hypotonia with joint laxity - "falling hands", radiographic manifestations included the tall vertebral bodies and gracile long bones. Furthermore there was a dent temporal at the left. But this feature is found on many other syndromes with nanosomia frontotemporal, less frequent the low position of the navel on these patients. The karyotype was normal, the case apparently sporadic. MMM can be differentiated from other types of nanosomia by clinical criterias; a molecular genetic proof is not yet possible.

Russell-Silver syndrome

MedlinePlus

... to improve muscle tone Special education, to address learning disabilities and attention deficit problems the child may have ... be normal, although the person may have a learning disability. Birth defects of the urinary tract may be ...

Williams-Beuren's Syndrome: A Case Report.

PubMed

Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

2012-01-01

Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

Williams-Beuren's Syndrome: A Case Report

PubMed Central

Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

2012-01-01

Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem. PMID:22927862

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

PubMed Central

Mari, Francesca; Hermanns, Pia; Giovannucci-Uzielli, Maria L; Galluzzi, Fiorella; Scott, Daryl; Lee, Brendan; Renieri, Alessandra; Unger, Sheila; Zabel, Bernhard; Superti-Furga, Andrea

2009-01-01

In their studies on the molecular basis of osteopoikilosis, Menten et al have identified three individuals with microdeletions on chromosome 12q14.4, which removed several genes including LEMD3, the osteopoikilosis gene. In addition to osteopoikilosis, affected individuals had growth retardation and developmental delay. We now report a smaller 12q14.4 microdeletion in a boy with severe pre and postnatal growth failure, and mild developmental delay; the patient was small at birth and presented with poor feeding and failure to thrive during the first 2 years of life, similar to the phenotype of primordial dwarfism or severe Silver-Russell syndrome (SRS). The 12q14 deletion did not include LEMD3, and no signs of osteopoikilosis were observed on skeletal radiographs. Among the deleted genes, HMGA2 is of particular interest in relationship to the aberrant somatic growth in our patient, as HMGA2 variants have been linked to stature variations in the general population and loss of function of Hmga2 in the mouse results in the pygmy phenotype that combines pre and postnatal growth failure, with resistance to the adipogenic effect of overfeeding. Sequencing of the remaining HMGA2 allele in our patient showed a normal sequence, suggesting that HMGA2 haploinsufficiency may be sufficient to produce the aberrant growth phenotype. We conclude that the 12q14.4 microdeletion syndrome can occur with or without deletion of LEMD3 gene; in LEMD3-intact cases, the phenotype includes primordial short stature and failure to thrive with moderate developmental delay, but osteopoikilosis is absent. Such cases will likely be diagnosed as Silver-Russell-like or as primordial dwarfism. PMID:19277063

107. 500 BLOCK, TOWARD SOUTHEAST, RUSSELL JUNIOR HIGH SCHOOL (RUSSELL ...

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

107. 500 BLOCK, TOWARD SOUTHEAST, RUSSELL JUNIOR HIGH SCHOOL (RUSSELL APARTMENTS) IN BACKGROUND - Russell Neighborhood, Bounded by Congress & Esquire Alley, Fifteenth & Twenty-first Streets, Louisville, Jefferson County, KY

108. RUSSELL JUNIOR HIGH SCHOOL (RUSSELL APARTMENTS) AT 515, WEST ...

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

108. RUSSELL JUNIOR HIGH SCHOOL (RUSSELL APARTMENTS) AT 515, WEST FRONT AND SOUTH SIDE, TOWARD NORTHEAST - Russell Neighborhood, Bounded by Congress & Esquire Alley, Fifteenth & Twenty-first Streets, Louisville, Jefferson County, KY

Henry Norris Russell's Toronto Lectures

NASA Astrophysics Data System (ADS)

Devorkin, D. H.

1996-12-01

In February 1924, at the invitation of C. A. Chant, Russell presented a set of 14 public lectures on the state of astronomy and astrophysics. Designed to be inspirational, they also reveal Russell's contemporary views on the state of astrophysics as well as his sense of proper practice in astronomy. During his visit, Russell was interviewed by local reporters who asked his opinion about building a large observatory, one of Chant's major projects. What Russell had to say about such ventures did not please Chant one bit.

Bertrand Russell on Chinese Education

ERIC Educational Resources Information Center

Zheng, Wei-ping

2008-01-01

The visit of Bertrand Russell to China during 1920 to 1921 was one of the most significant events in May Fourth Movement, and Russell pointed out that education was the most important thing for Chinese reconstruction. The author argues that we should interpret Russell's educational idea of China from a theoretic and practical point of view. The…

Capillary Leak Syndrome Following Snakebite Envenomation

PubMed Central

Udayabhaskaran, V.; Arun Thomas, E. T.; Shaji, Bhagya

2017-01-01

Capillary leak syndrome is a unique complication that follows Russell's viper envenomation. This syndrome has a very high fatality rate and is characterized by parotid swelling, chemosis, periorbital edema, hypotension, albuminuria, hypoalbuminemia, and hemoconcentration. This syndrome is frequently recognized from the southern parts of India, especially from the state of Kerala. It has been postulated that a vascular apoptosis inducing component of Russell's viper venom that is not neutralized by the commercially available anti-snake venom (ASV) is responsible for this complication as it occurs even after adequate doses of ASV administration in most cases. Acute kidney injury often requiring dialysis is invariably present in all patients because of reduced renal perfusion and ischemic acute tubular necrosis as a result of hypotension. Management mainly involves aggressive fluid resuscitation to maintain adequate tissue perfusion. There are no other proven effective treatment modalities, except a few reports of successful treatment with plasmapheresis. Methylprednisolone pulse therapy, terbutaline, aminophylline, and intravenous immunoglobulin are other treatment modalities tried. PMID:29142382

Solitary Pain: Bertrand Russell as Cognitive Therapist

ERIC Educational Resources Information Center

Overskeid, Geir

2004-01-01

Bertrand Russell was a prominent philosopher, mathematician, and political activist. It is less well known that Russell suffered from various psychological problems and developed his own method of dealing with them. Continuing a long philosophical tradition, Russell examined how faulty thinking may elicit painful emotions. Though seldom, if ever,…

Percutaneous penetration of silver from a silver containing garment in healthy volunteers and patients with atopic dermatitis.

PubMed

Pluut, Olivier A; Bianco, Carlotta; Jakasa, Ivone; Visser, Maaike J; Krystek, Petra; Larese-Filon, Francesca; Rustemeyer, Thomas; Kezic, Sanja

2015-06-01

Human data on dermal absorption of silver under "in use" scenario are scarce which hampers health risk assessment. The main objective of the present study was to determine percutaneous penetration of silver after dermal exposure to silver containing garment in healthy individuals and atopic dermatitis (AD) patients. Next to assess pro-inflammatory effect of silver in the skin. Healthy subjects (n=15) and patients with AD (n=15) wore a sleeve containing 3.6% (w/w) silver on their lower arms for 8h during 5 consecutive days. The percutaneous penetration parameters were deduced from the silver concentration-depth profiles in the stratum corneum (SC) collected by adhesive tapes. Furthermore, silver was measured in urine samples collected before and after exposure. Inflammatory response was assessed by measuring IL-1α and IL-1RA in the exposed and non-exposed skin sites. Dermal flux of silver in healthy subjects and AD patients was respectively 0.23 and 0.20 ng/cm(2)/h. The urine silver concentrations showed no increase after exposure. Furthermore, exposure to silver did not lead to the changes in the profiles of IL-1α and IL-1RA. Dermal absorption of silver under "real life scenario" was lower than the current reference dose. Furthermore, dermal exposure did not lead to altered expression of inflammatory IL-1 cytokines in the skin. Copyright © 2015. Published by Elsevier Ireland Ltd.

Bertrand Russell's Response to Environment.

ERIC Educational Resources Information Center

Bordessa, Ronald; Silzer, Vykki J.

1979-01-01

This paper looks at the physical environment in Russell's life and examines nature themes recurring in his writings. Apparently, Russell took great pleasure from certain elements of the environment; he also sought emotional stimulation from the physical environment to balance the strains of undertaking his logical work. (DS)

The Silver Bullet Syndrome.

ERIC Educational Resources Information Center

Dehne, George C.

1995-01-01

Many colleges address complex problems with a single "silver bullet" strategy. Because value shifts according to the consumer's situation or goal, private colleges should become more aware of their "situational value" and exploit it. This requires an understanding of how students choose colleges. In contrast, popular silver bullets target…

[Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype].

PubMed

Hu, Ting; Zhu, Hongmei; Zhang, Zhu; Wang, Jiamin; Liu, Hongqian; Zhang, Xuemei; Zhang, Haixia; Du, Ze; Li, Lingping; Wang, He; Liu, Shanling

2017-04-10

To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype. Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software. Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes. These included 2 Williams-Beuren syndromes, 2 Angelman syndromes, 2 Russell-Silver syndromes, 1 Smith-Magenis syndromes, 1 Wolf-Hirschhorn syndromes, 1 15q26 overgrowth syndrome and 1 Xq28 (MECP2) duplication syndrome. In addition, 8 cases were diagnosed with pathogenic copy number variations (pCNV). CMA can significantly improve the diagnostic rate for patients with ID/DD, which is of great value for the treatment of such children and guidance of reproduction for their parents. Therefore, CMA should become the first-line diagnostic test for patients with ID/DD.

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

PubMed Central

Eggermann, Thomas; Brioude, Frédéric; Russo, Silvia; Lombardi, Maria P; Bliek, Jet; Maher, Eamonn R; Larizza, Lidia; Prawitt, Dirk; Netchine, Irène; Gonzales, Marie; Grønskov, Karen; Tümer, Zeynep; Monk, David; Mannens, Marcel; Chrzanowska, Krystyna; Walasek, Malgorzata K; Begemann, Matthias; Soellner, Lukas; Eggermann, Katja; Tenorio, Jair; Nevado, Julián; Moore, Gudrun E; Mackay, Deborah JG; Temple, Karen; Gillessen-Kaesbach, Gabriele; Ogata, Tsutomu; Weksberg, Rosanna; Algar, Elizabeth; Lapunzina, Pablo

2016-01-01

Beckwith–Wiedemann and Silver–Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; www.imprinting-disorders.eu), put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders. PMID:26508573

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

PubMed Central

Horga, Alejandro; Tomaselli, Pedro J.; Gonzalez, Michael A.; Laurà, Matilde; Muntoni, Francesco; Manzur, Adnan Y.; Hanna, Michael G.; Blake, Julian C.; Houlden, Henry; Züchner, Stephan

2016-01-01

Objective: To describe the genetic and clinical features of a simplex patient with distal hereditary motor neuropathy (dHMN) and lower limb spasticity (Silver-like syndrome) due to a mutation in the sigma nonopioid intracellular receptor–1 gene (SIGMAR1) and review the phenotypic spectrum of mutations in this gene. Methods: We used whole-exome sequencing to investigate the proband. The variants of interest were investigated for segregation in the family using Sanger sequencing. Subsequently, a larger cohort of 16 unrelated dHMN patients was specifically screened for SIGMAR1 mutations. Results: In the proband, we identified a homozygous missense variant (c.194T>A, p.Leu65Gln) in exon 2 of SIGMAR1 as the probable causative mutation. Pathogenicity is supported by evolutionary conservation, in silico analyses, and the strong phenotypic similarities with previously reported cases carrying coding sequence mutations in SIGMAR1. No other mutations were identified in 16 additional patients with dHMN. Conclusions: We suggest that coding sequence mutations in SIGMAR1 present clinically with a combination of dHMN and pyramidal tract signs, with or without spasticity, in the lower limbs. Preferential involvement of extensor muscles of the upper limbs may be a distinctive feature of the disease. These observations should be confirmed in future studies. PMID:27629094

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.

PubMed

Horga, Alejandro; Tomaselli, Pedro J; Gonzalez, Michael A; Laurà, Matilde; Muntoni, Francesco; Manzur, Adnan Y; Hanna, Michael G; Blake, Julian C; Houlden, Henry; Züchner, Stephan; Reilly, Mary M

2016-10-11

To describe the genetic and clinical features of a simplex patient with distal hereditary motor neuropathy (dHMN) and lower limb spasticity (Silver-like syndrome) due to a mutation in the sigma nonopioid intracellular receptor-1 gene (SIGMAR1) and review the phenotypic spectrum of mutations in this gene. We used whole-exome sequencing to investigate the proband. The variants of interest were investigated for segregation in the family using Sanger sequencing. Subsequently, a larger cohort of 16 unrelated dHMN patients was specifically screened for SIGMAR1 mutations. In the proband, we identified a homozygous missense variant (c.194T>A, p.Leu65Gln) in exon 2 of SIGMAR1 as the probable causative mutation. Pathogenicity is supported by evolutionary conservation, in silico analyses, and the strong phenotypic similarities with previously reported cases carrying coding sequence mutations in SIGMAR1. No other mutations were identified in 16 additional patients with dHMN. We suggest that coding sequence mutations in SIGMAR1 present clinically with a combination of dHMN and pyramidal tract signs, with or without spasticity, in the lower limbs. Preferential involvement of extensor muscles of the upper limbs may be a distinctive feature of the disease. These observations should be confirmed in future studies. © 2016 American Academy of Neurology.

Hypopituitarism following envenoming by Russell's vipers (Daboia siamensis and D. russelii) resembling Sheehan's syndrome: first case report from Sri Lanka, a review of the literature and recommendations for endocrine management.

PubMed

Antonypillai, C N; Wass, J A H; Warrell, D A; Rajaratnam, H N

2011-02-01

Russell's vipers (Daboia russelii and D. siamensis) inhabit 10 South and South East Asian countries. People envenomed by these snakes suffer coagulopathy, bleeding, shock, neurotoxicity, acute kidney injury and local tissue damage leading to severe morbidity and mortality. An unusual complication of Russell's viper bite envenoming in Burma (D. siamensis) and southern India (D. russelii) is hypopituitarism but until now it has not been reported elsewhere. Here, we describe the first case of hypopituitarism following Russell's viper bite in Sri Lanka, review the literature on this subject and make recommendations for endocrine investigation and management. A 49-year-old man was bitten and seriously envenomed by D. russelii in 2005. He was treated with antivenom but although he recovered from the acute effects he remained feeling unwell. Hypopituitarism, with deficiencies of gonadal, steroid and thyroid axes, was diagnosed 3 years later. He showed marked improvement after replacement of anterior pituitary hormones. We attribute his hypopituitarism to D. russelii envenoming. Russell's viper bite is known to cause acute and chronic hypopituitarism and diabetes insipidus, perhaps through deposition of fibrin microthrombi and haemorrhage in the pituitary gland resulting from the action of venom procoagulant enzymes and haemorrhagins. Forty nine cases of hypopituitarism following Russell's viper bite have been described in the English language literature. Patients with acute hypopituitarism may present with hypoglycaemia and hypotension during the acute phase of envenoming. Those with chronic hypopituitarism seem to have recovered from envenoming but present later with features of hypopituitarism. Over 85% of these patients had suffered acute kidney injury immediately after the bite. Steroid replacement in acute hypopituitarism is life saving. All 11 patients with chronic hypopituitarism in whom the outcome of treatment was reported, showed marked improvement with hormone

William Russell on Schools in Bulgaria

ERIC Educational Resources Information Center

Popov, Nikolay; Sabic-El-Rayess, Amra

2013-01-01

William Russell became one of the most influential educators in the field of international and comparative education in the first half of the 20th century. In 1914, William Russell obtained his PhD from Teachers College and, within few years, became a prominent figure internationally. He traveled through Europe and taught in Japan and Siberia, as…

Russell Crater Dunes

NASA Image and Video Library

2017-03-27

Today's VIS image shows part of the large dune form on the floor of Russell Crater. Orbit Number: 67151 Latitude: -54.3002 Longitude: 13.0603 Instrument: VIS Captured: 2017-02-02 03:15 http://photojournal.jpl.nasa.gov/catalog/PIA21517

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

PubMed

Mozzillo, Enza; Cozzolino, Carla; Genesio, Rita; Melis, Daniela; Frisso, Giulia; Orrico, Ada; Lombardo, Barbara; Fattorusso, Valentina; Discepolo, Valentina; Della Casa, Roberto; Simonelli, Francesca; Nitsch, Lucio; Salvatore, Francesco; Franzese, Adriana

2016-08-01

In childhood, several rare genetic diseases have overlapping symptoms and signs, including those regarding growth alterations, thus the differential diagnosis is sometimes difficult. The proband, aged 3 years, was suspected to have Silver-Russel syndrome because of intrauterine growth retardation, postnatal growth retardation, typical facial dysmorphic features, macrocephaly, body asymmetry, and bilateral fifth finger clinodactyly. Other features were left atrial and ventricular enlargement and patent foramen ovale. Total X-ray skeleton showed hypoplasia of the twelfth rib bilaterally and of the coccyx, slender long bones with thick cortex, and narrow medullary channels. The genetic investigation did not confirm Silver-Russel syndrome. At the age of 5 the patient developed an additional sign: hepatomegaly. Array CGH revealed a 147 kb deletion (involving TRIM 37 and SKA2 genes) on one allele of chromosome 17, inherited from his mother. These results suggested Mulibrey nanism. The clinical features were found to fit this hypothesis. Sequencing of the TRIM 37 gene showed a single base change at a splicing locus, inherited from his father that provoked a truncated protein. The combined use of Array CGH and DNA sequencing confirmed diagnosis of Mulibrey nanism. The large deletion involving the SKA2 gene, along with the increased frequency of malignant tumours in mulibrey patients, suggests closed monitoring for cancer of our patient and his mother. Array CGH should be performed as first tier test in all infants with multiple anomalies. The clinician should reconsider the clinical features when the genetics suggests this. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Acute hypopituitarism complicating Russell's viper envenomation: case series and systematic review.

PubMed

Rajagopala, S; Thabah, M M; Ariga, K K; Gopalakrishnan, M

2015-09-01

Chronic hypopituitarism following Russell viper envenomation (RVE) is a rare but well-recognized syndrome. The clinical features, associations, management and outcomes of RVE associated-acute hypopituitarism (AHP) are not well described. To describe the clinical features, intensive care unit (ICU) management and outcomes of a series of patients with RVE-AHP and identify the clinical associations of RVE-AHP. We describe a series of patients with prospectively identified AHP related to RVE and describe our findings comparing RVE with and without AHP and a systematic search of literature on AHP related to RVE. We identified nine cases of AHP related to RVE. Unexplained hypoglycemia (100%) and hypotension (66.7%) were the most common findings at presentation. AHP occurred after a median of 9 (range, 2-14) days after severe envenomation and was associated with multi-organ dysfunction, lower platelet counts, more bleeding and transfusions when compared to patients with RVE alone. The presence of clinically defined capillary leak syndrome, disseminated intravascular coagulation and mortality were not different from those without AHP. Our systematic search yielded 12 cases of AHP related to RVE; data on associated clinical manifestations, therapy and ASV administration were not available in most reports. AHP is a very rare complication of RVE. Unexplained hypoglycemia and hypotension should prompt evaluation for AHP in RVE. AHP is associated with severe RVE, multi-organ dysfunction, bleeding and need for transfusion. Prompt treatment with steroids may reduce mortality related to AHP in RVE. © The Author 2015. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

The Critical Importance of Russell's Diagram

NASA Astrophysics Data System (ADS)

Gingerich, O.

2013-04-01

The idea of dwarf and giants stars, but not the nomenclature, was first established by Eijnar Hertzsprung in 1905; his first diagrams in support appeared in 1911. In 1913 Henry Norris Russell could demonstrate the effect far more strikingly because he measured the parallaxes of many stars at Cambridge, and could plot absolute magnitude against spectral type for many points. The general concept of dwarf and giant stars was essential in the galactic structure work of Harlow Shapley, Russell's first graduate student. In order to calibrate the period-luminosity relation of Cepheid variables, he was obliged to fall back on statistical parallax using only 11 Cepheids, a very sparse sample. Here the insight provided by the Russell diagram became critical. The presence of yellow K giant stars in globular clusters credentialed his calibration of the period-luminosity relation by showing that the calibrated luminosity of the Cepheids was comparable to the luminosity of the K giants. It is well known that in 1920 Shapley did not believe in the cosmological distances of Heber Curtis' spiral nebulae. It is not so well known that in 1920 Curtis' plot of the period-luminosity relation suggests that he didn't believe it was a physical relation and also he failed to appreciate the significance of the Russell diagram for understanding the large size of the Milky Way.

Hertzsprung and Russell: The Minards of Astronomy

NASA Astrophysics Data System (ADS)

Broek, J. V. D.; Russo, P.

2014-01-01

This article will explore the history of flow maps, the extent of their use and how astronomy has benefited from this illustrative way of communicating ideas. Flow maps are multidimensional infographics that tell a long story in one single image. In 1812 the French civil engineer Charles Joseph Minard created a flow map that is still dubbed "the mother of all flow maps", summarising Napoleon's Russian campaign (Figure 1). Almost 100 years later, in 1910, Ejnar Hertzsprung and Henry Norris Russell created a multidimensional flow map that arguably surpasses Minard's map in ingenuity -- the Hertzprung-Russell diagram. The Hertzprung-Russell diagram represents a major step towards an understanding of stellar evolution, or "the lives of stars", and is still used in astronomy today.

21 CFR 864.8950 - Russell viper venom reagent.

Code of Federal Regulations, 2011 CFR

2011-04-01

... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Russell viper venom reagent. 864.8950 Section 864.8950 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Hematology Reagents § 864.8950 Russell viper venom...

21 CFR 864.8950 - Russell viper venom reagent.

Code of Federal Regulations, 2010 CFR

2010-04-01

... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Russell viper venom reagent. 864.8950 Section 864.8950 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Hematology Reagents § 864.8950 Russell viper venom...

21 CFR 864.8950 - Russell viper venom reagent.

Code of Federal Regulations, 2014 CFR

2014-04-01

... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Russell viper venom reagent. 864.8950 Section 864.8950 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Hematology Reagents § 864.8950 Russell viper venom...

21 CFR 864.8950 - Russell viper venom reagent.

Code of Federal Regulations, 2012 CFR

2012-04-01

... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Russell viper venom reagent. 864.8950 Section 864.8950 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Hematology Reagents § 864.8950 Russell viper venom...

21 CFR 864.8950 - Russell viper venom reagent.

Code of Federal Regulations, 2013 CFR

2013-04-01

... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Russell viper venom reagent. 864.8950 Section 864.8950 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Hematology Reagents § 864.8950 Russell viper venom...

40 plus or minus 10, a new magical number: reply to Russell.

PubMed

Larrabee, Glenn J; Millis, Scott R; Meyers, John E

2009-07-01

Russell (2009 this issue) has criticized our recently published investigation (Larrabee, Millis, & Meyers, 2008) comparing the diagnostic discrimination of an ability-focused neuropsychological battery (AFB) to that of the Halstead Reitan Battery (HRB). He contended that our symptom validity test (SVT) screening excluding 43% of brain dysfunction and 15% of control patients using computations based on Digit Span inappropriately excluded patients with brain damage, due to the correlation of Digit Span with the Average Index Score (AIS). Our exclusion of 43% of brain dysfunction participants matches the frequency of invalid neuropsychological data of 40-50% or more reported by numerous studies for a wide range of settings with external incentive. Moreover, our study was not an investigation of malingering; rather, we screened our data to insure that only valid data remained, for the most meaningful comparison of the AFB to the HRB. Russell's argument that Digit Span is correlated with brain damage confounds the criterion, AIS (a composite cognitive score), with the predictor, Digit Span (another cognitive score), rather than employing a truly independent neurologic criterion. The fact that Digit Span is notoriously insensitive to brain dysfunction underscores the robustness of our findings, for if we inappropriately excluded brain-damaged patients for low Digit Span, as Russell claimed, this resulted in our sample reflecting more subtle degree of brain dysfunction, and the superiority of the AFB over the HRB was demonstrated under the most challenging of discriminative conditions.

Primary growth hormone insensitivity (Laron syndrome) and acquired hypothyroidism: a case report

PubMed Central

2011-01-01

Introduction Primary growth hormone resistance or growth hormone insensitivity syndrome, also known as Laron syndrome, is a hereditary disease caused by deletions or different types of mutations in the growth hormone receptor gene or by post-receptor defects. This disorder is characterized by a clinical appearance of severe growth hormone deficiency with high levels of circulating growth hormone in contrast to low serum insulin-like growth factor 1 values. Case presentation We report the case of a 15-year-old Caucasian girl who was diagnosed with Silver-Russell syndrome at the age of four and a half years. Recombinant growth hormone was administered for 18 months without an appropriate increase in growth velocity. At the age of seven years, her serum growth hormone levels were high, and an insulin-like growth factor 1 generation test did not increase insulin-like growth factor 1 levels (baseline insulin-like growth factor 1 levels, 52 μg/L; reference range, 75 μg/L to 365 μg/L; and peak, 76 μg/L and 50 μg/L after 12 and 84 hours, respectively, from baseline). The genetic analysis showed that the patient was homozygous for the R217X mutation in the growth hormone receptor gene, which is characteristic of Laron syndrome. On the basis of these results, the diagnosis of primary growth hormone insensitivity syndrome was made, and recombinant insulin-like growth factor 1 therapy was initiated. The patient's treatment was well tolerated, but unexplained central hypothyroidism occurred at the age of 12.9 years. At the age of 15 years, when the patient's sexual development was almost completed and her menstrual cycle occurred irregularly, her height was 129.8 cm, which is 4.71 standard deviations below the median for normal girls her age. Conclusion The most important functional tests for the diagnosis of growth hormone insensitivity are the insulin-like growth factor 1 generation test and genetic analysis. Currently, the only effective treatment is daily

Primary growth hormone insensitivity (Laron syndrome) and acquired hypothyroidism: a case report.

PubMed

Cotta, Oana R; Santarpia, Libero; Curtò, Lorenzo; Aimaretti, Gianluca; Corneli, Ginevra; Trimarchi, Francesco; Cannavò, Salvatore

2011-07-11

Primary growth hormone resistance or growth hormone insensitivity syndrome, also known as Laron syndrome, is a hereditary disease caused by deletions or different types of mutations in the growth hormone receptor gene or by post-receptor defects. This disorder is characterized by a clinical appearance of severe growth hormone deficiency with high levels of circulating growth hormone in contrast to low serum insulin-like growth factor 1 values. We report the case of a 15-year-old Caucasian girl who was diagnosed with Silver-Russell syndrome at the age of four and a half years. Recombinant growth hormone was administered for 18 months without an appropriate increase in growth velocity. At the age of seven years, her serum growth hormone levels were high, and an insulin-like growth factor 1 generation test did not increase insulin-like growth factor 1 levels (baseline insulin-like growth factor 1 levels, 52 μg/L; reference range, 75 μg/L to 365 μg/L; and peak, 76 μg/L and 50 μg/L after 12 and 84 hours, respectively, from baseline). The genetic analysis showed that the patient was homozygous for the R217X mutation in the growth hormone receptor gene, which is characteristic of Laron syndrome. On the basis of these results, the diagnosis of primary growth hormone insensitivity syndrome was made, and recombinant insulin-like growth factor 1 therapy was initiated. The patient's treatment was well tolerated, but unexplained central hypothyroidism occurred at the age of 12.9 years. At the age of 15 years, when the patient's sexual development was almost completed and her menstrual cycle occurred irregularly, her height was 129.8 cm, which is 4.71 standard deviations below the median for normal girls her age. The most important functional tests for the diagnosis of growth hormone insensitivity are the insulin-like growth factor 1 generation test and genetic analysis. Currently, the only effective treatment is daily administration of recombinant insulin-like growth

City of Russell, Kansas - Clean Water Act Public Notice

EPA Pesticide Factsheets

The EPA is providing notice of a proposed Administrative Penalty Assessment against the City of Russell, KS, a municipality located at 133 West 8th Street, Russell, KS for alleged violations of its National Pollutant Discharge Elimination System permit (pe

Russell Crater Dunes, Defrosted

NASA Image and Video Library

2010-10-27

The Russell Crater dune field is covered seasonally by carbon dioxide frost; this image from NASA Mars Reconnaissance Orbiter shows the dune field after the frost has sublimated. There are just a few patches left of the bright seasonal frost.

Simulated peak inflows for glacier dammed Russell Fiord, near Yakutat, Alaska

USGS Publications Warehouse

Neal, Edward G.

2004-01-01

In June 2002, Hubbard Glacier advanced across the entrance to 35-mile-long Russell Fiord creating a glacier-dammed lake. After closure of the ice and moraine dam, runoff from mountain streams and glacial melt caused the level in ?Russell Lake? to rise until it eventually breached the dam on August 14, 2002. Daily mean inflows to the lake during the period of closure were estimated on the basis of lake stage data and the hypsometry of Russell Lake. Inflows were regressed against the daily mean streamflows of nearby Ophir Creek and Situk River to generate an equation for simulating Russell Lake inflow. The regression equation was used to produce 11 years of synthetic daily inflows to Russell Lake for the 1992-2002 water years. A flood-frequency analysis was applied to the peak daily mean inflows for these 11 years of record to generate a 100-year peak daily mean inflow of 235,000 cubic feet per second. Regional-regression equations also were applied to the Russell Lake basin, yielding a 100-year inflow of 157,000 cubic feet per second.

The Russell Case: Academic Freedom vs. Public Hysteria.

ERIC Educational Resources Information Center

McCarthy, Joseph M.

This paper examines issues of academic freedom and the community's role in a review of public and legal events leading to the court's striking down of the 1940 appointment of Bertrand Russell to teach at the City College of New York. Russell was to teach three philosophy courses relating logic, mathematics, and science to philosophy. Episcopal…

Exploring Ethnic Inequalities in Admission to Russell Group Universities

PubMed Central

Boliver, Vikki

2015-01-01

This article analyses national university applications and admissions data to explore why ethnic minority applicants to Russell Group universities are less likely to receive offers of admission than comparably qualified white applicants. Contrary to received opinion, the greater tendency of ethnic minorities to choose highly numerically competitive degree subjects only partially accounts for their lower offer rates from Russell Group universities relative to white applicants with the same grades and ‘facilitating subjects’ at A-level. Moreover, ethnic inequalities in the chances of receiving an admissions offer from a Russell Group university are found to be greater in relation to courses where ethnic minorities make up a larger percentage of applicants. This latter finding raises the possibility that some admissions selectors at some Russell Group universities may be unfairly rejecting a proportion of their ethnic minority applicants in an attempt to achieve a more ethnically representative student body. PMID:27904229

6. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

6. Historic American Buildings Survey E. W. Russell, Photographer, June 19, 1936 OLD WELL SWEEP (LEVER IN OPERATION) - Cotton Gin & Well Sweep, Cliatt Plantation, State Route 165, Cottonton, Russell County, AL

7. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

7. Historic American Buildings Survey E. W. Russell, Photographer, June 19, 1936 OLD WELL SWEEP (LEVER IN UPRIGHT POSITION) - Cotton Gin & Well Sweep, Cliatt Plantation, State Route 165, Cottonton, Russell County, AL

5. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

5. Historic American Buildings Survey E. W. Russell, Photographer, June 19, 1936 CLOSE-UP OF GEAR SHAFT AND SPOKES - Cotton Gin & Well Sweep, Cliatt Plantation, State Route 165, Cottonton, Russell County, AL

3. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

3. Historic American Buildings Survey E. W. Russell, Photographer, June 19, 1936 OLD MULE GIN HOUSE LOOKING S. E. - Cotton Gin & Well Sweep, Cliatt Plantation, State Route 165, Cottonton, Russell County, AL

1. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, June 19, 1936 OLD MULE GIN HOUSE LOOKING N. W. - Cotton Gin & Well Sweep, Cliatt Plantation, State Route 165, Cottonton, Russell County, AL

Some early similarities and later differences between Bertrand Russell and B. F. Skinner

PubMed Central

Moxley, Roy A.

2003-01-01

B. F. Skinner credited Bertrand Russell with converting him to behaviorism and with writing one of the books that most influenced him. Particularly in Skinner's early work, there are similarities between Skinner and Russell that extend across mathematics, determinism, positivism, verbal behavior, future communities, evolution, and pragmatism. Later, Skinner's views changed, and he parted company with Russell in most of these areas. Perhaps the most dramatic and fundamental departure came when Skinner embraced pragmatism, which Russell said he “hated.” However, there was a time during which Russell wrote favorably of pragmatism as a view for science. Although the similarities between Skinner and Russell may have resulted from common cultural influences, Russell appears to deserve credit for leading Skinner into the stimulus-response behaviorism of two-term necessities; he may also deserve some credit for helping to lead him out of it and into the selectionist behaviorism of three-term contingencies. PMID:22478397

2. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

2. Historic American Buildings Survey E. W. Russell, Photographer, June 19, 1936 CLOSE-UP OF GEAR WHEEL FROM OPPOSITE SIDE - Cotton Gin & Well Sweep, Cliatt Plantation, State Route 165, Cottonton, Russell County, AL

2. VIEW LOOKING SOUTH DOWN RUSSELL WAY WITH BUILDING 281 ...

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

2. VIEW LOOKING SOUTH DOWN RUSSELL WAY WITH BUILDING 281 ON LEFT AND BUILDING 280 ON RIGHT - U.S. Naval Base, Pearl Harbor, Barracks, Neville Way at Corner of Russell Way, Pearl City, Honolulu County, HI

76 FR 39867 - Russell, John G.; Notice of Filing

Federal Register 2010, 2011, 2012, 2013, 2014

2011-07-07

... DEPARTMENT OF ENERGY Federal Energy Regulatory Commission [Docket No. ID-6309-001] Russell, John G.; Notice of Filing Take notice that on June 29, 2011, John G. Russell submitted for filing, an application for authority to hold interlocking positions, pursuant to section 305(b) of the Federal Power Act, 16...

A randomized controlled trial of fresh frozen plasma for coagulopathy in Russell's viper (Daboia russelii) envenoming.

PubMed

Isbister, G K; Jayamanne, S; Mohamed, F; Dawson, A H; Maduwage, K; Gawarammana, I; Lalloo, D G; de Silva, H J; Scorgie, F E; Lincz, L F; Buckley, N A

2017-04-01

Essentials Russell's viper envenoming is a major health issue in South Asia and causes coagulopathy. We studied the effect of fresh frozen plasma and two antivenom doses on correcting coagulopathy. Fresh frozen plasma did not hasten recovery of coagulopathy. Low-dose antivenom did not worsen coagulopathy. Background Russell's viper (Daboia russelii) envenoming is a major health issue in South Asia and causes venom-induced consumption coagulopathy (VICC). Objectives To investigate the effects of fresh frozen plasma (FFP) and two antivenom doses in correcting VICC. Methods We undertook an open-label randomized controlled trial in patients with VICC at two Sri Lankan hospitals. Patients with suspected Russell's viper bites and coagulopathy were randomly allocated (1 : 1) to high-dose antivenom (20 vials) or low-dose antivenom (10 vials) plus 4 U of FFP. The primary outcome was the proportion of patients with an International Normalized Ratio (INR) of < 2 at 6 h after antivenom administration. Secondary outcomes included anaphylaxis, major hemorrhage, death, and clotting factor recovery. Results From 214 eligible patients, 141 were randomized: 71 to high-dose antivenom, and 70 to low-dose antivenom/FFP; five had no post-antivenom blood tests. The groups were similar except for a delay of 1 h in antivenom administration for FFP patients. Six hours after antivenom administration, 23 of 69 (33%) patients allocated to high-dose antivenom had an INR of < 2, as compared with 28 of 67 (42%) allocated to low-dose antivenom/FFP (absolute difference 8%; 95% confidence interval - 8% to 25%). Fifteen patients allocated to FFP did not receive it. Severe anaphylaxis occurred equally frequently in each group. One patient given FFP developed transfusion-related acute lung injury. Three deaths occurred in low-dose antivenom/FFP patients, including one intracranial hemorrhage. There was no difference in recovery rates of INR or fibrinogen, but there was more rapid initial recovery of

Russel Crater Dunes - IR

NASA Image and Video Library

2015-03-10

In this infrared image of the dunes on the floor of Russell Crater, the dunes are brighter than the surround materials, as shown in this image from NASA 2001 Mars Odyssey spacecraft. Latitude: -54.4765 Longitude: 13.0926 Instrument: IR Captured: 2015-01-21 17:09 http://photojournal.jpl.nasa.gov/catalog/PIA19228

Overview taken from the corner of Avenue E (Russell Avenue) ...

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

Overview taken from the corner of Avenue E (Russell Avenue) and Central Avenue. Facility 167 in background. View facing northwest - U.S. Naval Base, Pearl Harbor, Administration Annex, Near Russell Avenue (previously Avenue E), between of Facility Nos. 1C & 1E , Pearl City, Honolulu County, HI

Comparison of Martian Dust Devil Track Morphologies in Gusev and Russell Craters

NASA Astrophysics Data System (ADS)

Verba, C. A.; Geissler, P. E.

2008-12-01

Detailed HiRISE images were used to observe the seasonal changes of dust devil tracks in Gusev and Russell craters, focusing on the temporal and morphological differences between the two locations. Seasonal variations in dust devil activity are influenced by topography, sediment supply, altitude, as well as latitudinal variations in the atmospheric dust cycle and local winds. Topographical features, such as the dunes in Russell, enhance convective circulation, thereby playing a key role in dust devil formation. The greater the contrast between surface and air temperatures, the greater the surface heat flux and potential for dust devil activity. The NASA Ames General Circulation Model (GCM) was used to compare predicted wind directions to those determined from inferred scallops of tracks mapped using ArcMap. Observations indicate distinct variations in the density, shape, and size of the tracks during specific seasons. Russell crater tracks are curvilinear and highly sinuous, with widths and lengths ranging from 20-40 m and 340 m to 9 km respectively. Gusev crater tracks are less sinuous, measuring tens of meters wide and 2-4 km long. Tracks in Russell crater are aligned with the northwesterly oriented prevailing wind as predicted by the GCM. The dust devil season in Gusev Crater is much shorter (Ls= 160° - 340°, with only minor activity afterwards) than that of Russell Crater (Ls= 172° - 40°). Peak dust devil frequencies occur sooner at Gusev (Ls 250°) than at Russell crater (Ls 288°). Track densities are greater and more consistent in Gusev crater and are more variable at Russell, particularly during the early part of the season. Possible explanations for the differences in seasonal behavior between the study sites include: (1) average altitudes up to 2000 m higher at Russell crater than at Gusev, resulting in enhanced convective circulation; (2) increased insolation at higher southern latitudes during perihelion; and (3) frost on the dunes delays the start

Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4.

PubMed

Orlacchio, A; Patrono, C; Gaudiello, F; Rocchi, C; Moschella, V; Floris, R; Bernardi, G; Kawarai, T

2008-05-20

To perform a clinical and genetic study of two large Italian families (RM-36 and RM-51) showing the cardinal clinical features of Silver syndrome (SS), a rare dominantly inherited form of hereditary spastic paraplegia (HSP) complicated by amyotrophy of the small hand muscles. Clinical assessment including neurophysiologic, neuropsychological, and neuroimaging evaluations. Genetic studies included linkage and sequence analyses. Using a genome-wide survey in the RM-36 family, a novel locus (SPG38) has been identified and mapped within the 13.1-cM region on chromosome 4p16-p15 between markers D4S432 and D4S1599. The RM-51 family was linked to the SPG4 locus at 2p21-p24 and sequence analysis of SPG4 showed a novel frameshift mutation p.Asp321GlyfsX6. Clinical examination of the affected members carrying the mutation showed high frequency of additional clinical features including decreased vibration sense, pes cavus, temporal lobe epilepsy, and cognitive impairment. This study demonstrates evidence of a novel locus SPG38 for Silver syndrome (SS) and suggests that genetic defects in SPG4 might lead to broad clinical features overlapped with those of SS.

A cytochemical note on nucleoli of granulocytic precursors and granulocytes in patients suffering from the refractory anemia with excess blasts (RAEB) of the myelodysplastic syndrome (MDS).

PubMed

Smetana, K; Jirásková, I; Malasková, V; Cermák, J

2002-01-01

Nucleoli were studied in the proliferation as well as maturation granulopoietic compartment in patients suffering from refractory anemia with excess blasts (RAEB) of the myelodysplastic syndrome (MDS) by means of simple cytochemical procedures for the demonstration of nucleolar RNA and silver stained proteins of nucleolus organizer regions. Regardless of the procedure used for the nucleolar visualization, early stages of the granulopoietic compartment and particularly myeloblasts of RAEB patients were characterized by reduction of the nucleolar number expressed by the nucleolar coefficient the values of which resembled those described previously in acute myeloid leukemias. The reduced values of the nucleolar coefficient of these cells in silver stained specimens of RAEB patients were accompanied by a decreased number of clusters of silver stained particles representing interphasic silver stained nucleolus organizer regions (AgNORs). The reduction of these clusters was also described previously in leukemic cells. In addition, the differences in the values of the nucleolar coefficient of granulocytic precursors between specimens stained for RNA and those stained with the silver reaction might reflect changing composition and proportions of nucleolar components in the course of the granulocytic development.

Investigating Mars: Russell Crater

NASA Image and Video Library

2017-08-01

This image shows individual dunes on the floor of Russell Crater. These dunes are in the southern part of the dune field. Russell Crater is located in Noachis Terra. A spectacular dune ridge and other dune forms on the crater floor have caused extensive imaging. The Odyssey spacecraft has spent over 15 years in orbit around Mars, circling the planet more than 69000 times. It holds the record for longest working spacecraft at Mars. THEMIS, the IR/VIS camera system, has collected data for the entire mission and provides images covering all seasons and lighting conditions. Over the years many features of interest have received repeated imaging, building up a suite of images covering the entire feature. From the deepest chasma to the tallest volcano, individual dunes inside craters and dune fields that encircle the north pole, channels carved by water and lava, and a variety of other feature, THEMIS has imaged them all. For the next several months the image of the day will focus on the Tharsis volcanoes, the various chasmata of Valles Marineris, and the major dunes fields. We hope you enjoy these images! https://photojournal.jpl.nasa.gov/catalog/PIA21799

Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome

PubMed Central

2012-01-01

Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune Albright, Silver-Russell, LEOPARD, Ataxia-Telangiectasia). A review of the literature also revealed two cases of association with NBCCS. We report here the case of a female proband with CALS associated to Nevoid Basal Cell Carcinoma Syndrome (NBCCS) with known PTCH1 germline mutation (C.1348-2A>G) who had been misdiagnosed with NF1 in her childhood because of 5 CALS and cutaneous nodules. The patient presented a giant cell tumor of the skin, palmar and calcaneal epidermoidal cystic nodules, odontogenic keratocystic tumors and deformity of the jaw profile. Her family history brought both her brother and father to our attention because of the presence of KCOTs diagnosed at early age: after genetic testing, the same PTCH1 germline mutation was identified in the three family members. Clinical criteria are used for discerning NF1 diagnosis (size, number and onset age), while there are no definite guidelines concerning CALS except for their presence. In our experience, we have noted an association of CALS with NBCCS; this seems interesting because we already know clinical criteria are a dynamic entity and can be modified by epidemiologic evidences. PMID:23107377

The Church in the Thought of Charles Taze Russell

DTIC Science & Technology

1990-07-01

The Prophetic Message of the Seventh Day Adventists and the Chronologv of Pastor C.T. Russell in the Light of History and Bible Knowledge. Chicago: n.p...vii 1 INTRODUCTION Recent studies in the history of religion in America since colonial days have focused on the theme of primitivism. These studies...established churches. The 1870s was a time of Bible study, reading Second Adventist literature, and developing friendships that contributed to Russell’s

Characterization of silver particles in the stratum corneum of healthy subjects and atopic dermatitis patients dermally exposed to a silver-containing garment

PubMed Central

Bianco, Carlotta; Visser, Maaike J.; Pluut, Olivier A.; Svetličić, Vesna; Pletikapić, Galja; Jakasa, Ivone; Riethmuller, Christoph; Adami, Gianpiero; Filon, Francesca Larese; Schwegler-Berry, Diane; Stefaniak, Aleksandr B.; Kezic, Sanja

2018-01-01

Silver is increasingly being used in garments to exploit its antibacterial properties. Information on the presence of silver nanoparticles (AgNPs) in garments and their in vivo penetration across healthy and impaired skin from use is limited. We investigated the presence of AgNPs in a silver containing garment and in the stratum corneum (SC) of healthy subjects (CTRLs) and individuals with atopic dermatitis (AD). Seven CTRLs and seven AD patients wore a silver sleeve (13% Ag w/w) 8 h/day for five days on a forearm and a placebo sleeve on the other forearm. After five days, the layers of the SC were collected by adhesive tapes. The silver particles in the garment and SC were characterized by scanning electron microscopy with energy dispersive X-ray analysis (SEM-EDX) and atomic force microscopy (AFM). AFM and SEM revealed the presence of sub-micrometre particles having a broad range of sizes (30–500 nm) on the surface of the garment that were identified as silver. On the SC tapes collected from different depths, aggregates with a wide range of sizes (150 nm−2 μm) and morphologies were found. Most aggregates contained primarily silver, although some also contained chlorine and sulfur. There was no clear difference in the number or size of the aggregates observed in SC between healthy and AD subjects. After use, AgNPs and their aggregates were present in the SC at different depths of both healthy subjects and AD patients. Their micrometre size suggests that aggregation likely occurred in the SC. PMID:27647219

Alfred Russel Wallace (1823-1913): evolution and medicine.

PubMed

O'Connell, Henry P

2009-11-01

The theory we now know simply as 'evolution' was first presented to the scientific world one and a half centuries ago, on 1 July 1858, when the work of two men, Alfred Russel Wallace and Charles Robert Darwin (1809-82), was jointly read at the Linnean Society. While Charles Darwin has rightly taken his place in history as one of the greatest scientists of all time, Alfred Russel Wallace has been largely forgotten outside of the scientific community. However, Wallace was a prolific researcher and writer with interests in a wide range of topics, from medicine to economics.

Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome.

PubMed

Mas-Moya, Jenny; Dudley, Beth; Brand, Randall E; Thull, Darcy; Bahary, Nathan; Nikiforova, Marina N; Pai, Reetesh K

2015-11-01

Screening for DNA mismatch repair (MMR) deficiency in colorectal and endometrial carcinomas identifies patients at risk for Lynch syndrome. Some patients with MMR-deficient tumors have no evidence of a germline mutation and have been described as having Lynch-like syndrome. We compared the clinicopathological features of colorectal and endometrial carcinomas in patients with Lynch-like syndrome and Lynch syndrome. Universal screening identified 356 (10.6%) of 3352 patients with colorectal carcinoma and 72 (33%) of 215 patients with endometrial carcinoma with deficient DNA MMR. Sixty-six patients underwent germline mutation analysis with 45 patients (68%) having evidence of a germline MMR gene mutation confirming Lynch syndrome and 21 patients (32%) having Lynch-like syndrome with no evidence of a germline mutation. Most patients with Lynch-like syndrome had carcinoma involving the right colon compared to patients with Lynch syndrome (93% versus 45%; P < .002). All patients with colorectal carcinomas demonstrating isolated loss of MSH6 expression had Lynch syndrome confirmed by germline mutation analysis. Synchronous or metachronous Lynch syndrome-associated carcinoma was more frequently identified in patients with Lynch syndrome compared to Lynch-like syndrome (38% versus 7%; P = .04). There were no significant differences in clinicopathological variables between patients with Lynch-like syndrome and Lynch syndrome with endometrial carcinoma. In summary, 32% of patients with MMR deficiency concerning Lynch syndrome will have Lynch-like syndrome. Our results demonstrate that patients with Lynch-like syndrome are more likely to have right-sided colorectal carcinoma, less likely to have synchronous or metachronous Lynch syndrome-associated carcinoma, and less likely to demonstrate isolated loss of MSH6 expression within their tumor. Copyright © 2015 Elsevier Inc. All rights reserved.

Investigating Mars: Russell Crater

NASA Image and Video Library

2017-08-04

This image shows the western part of the dune field on the floor of Russell Crater. Russell Crater is located in Noachis Terra. A spectacular dune ridge and other dune forms on the crater floor have caused extensive imaging. The Odyssey spacecraft has spent over 15 years in orbit around Mars, circling the planet more than 69000 times. It holds the record for longest working spacecraft at Mars. THEMIS, the IR/VIS camera system, has collected data for the entire mission and provides images covering all seasons and lighting conditions. Over the years many features of interest have received repeated imaging, building up a suite of images covering the entire feature. From the deepest chasma to the tallest volcano, individual dunes inside craters and dune fields that encircle the north pole, channels carved by water and lava, and a variety of other feature, THEMIS has imaged them all. For the next several months the image of the day will focus on the Tharsis volcanoes, the various chasmata of Valles Marineris, and the major dunes fields. We hope you enjoy these images! Orbit Number: 33970 Latitude: -54.3831 Longitude: 12.3712 Instrument: VIS Captured: 2009-08-11 09:20 https://photojournal.jpl.nasa.gov/catalog/PIA21802

Investigating Mars: Russell Crater

NASA Image and Video Library

2017-08-09

This image shows the central part of the dune field on the floor of Russell Crater. Russell Crater is located in Noachis Terra. A spectacular dune ridge and other dune forms on the crater floor have caused extensive imaging. The Odyssey spacecraft has spent over 15 years in orbit around Mars, circling the planet more than 69000 times. It holds the record for longest working spacecraft at Mars. THEMIS, the IR/VIS camera system, has collected data for the entire mission and provides images covering all seasons and lighting conditions. Over the years many features of interest have received repeated imaging, building up a suite of images covering the entire feature. From the deepest chasma to the tallest volcano, individual dunes inside craters and dune fields that encircle the north pole, channels carved by water and lava, and a variety of other feature, THEMIS has imaged them all. For the next several months the image of the day will focus on the Tharsis volcanoes, the various chasmata of Valles Marineris, and the major dunes fields. We hope you enjoy these images! Orbit Number: 34856 Latitude: -54.5757 Longitude: 12.8629 Instrument: VIS Captured: 2009-10-23 08:04 https://photojournal.jpl.nasa.gov/catalog/PIA21806

Investigating Mars: Russell Crater

NASA Image and Video Library

2017-07-31

This image shows a slice of the floor of Russell Crater. Russell Crater is located in Noachis Terra. The spectacular dune ridge and other dune forms on the crater floor have caused extensive imaging. The Odyssey spacecraft has spent over 15 years in orbit around Mars, circling the planet more than 69,000 times. It holds the record for longest working spacecraft at Mars. THEMIS, the IR/VIS camera system, has collected data for the entire mission and provides images covering all seasons and lighting conditions. Over the years many features of interest have received repeated imaging, building up a suite of images covering the entire feature. From the deepest chasma to the tallest volcano, individual dunes inside craters and dune fields that encircle the north pole, channels carved by water and lava, and a variety of other feature, THEMIS has imaged them all. For the next several months the image of the day will focus on the Tharsis volcanoes, the various chasmata of Valles Marineris, and the major dunes fields. We hope you enjoy these images! Orbit Number: 6354 Latitude: -54.6188 Longitude: 12.9816 Instrument: VIS Captured: 2003-05-21 14:24 https://photojournal.jpl.nasa.gov/catalog/PIA21798

The Russell Report and Rural Adult Education

ERIC Educational Resources Information Center

Ambler, R. W.

1974-01-01

The Workers' Education Association, among other rural institutions, is suggested as an existing institution better situated to deal with rural adult education than the proposals made in the Russell Report. (AG)

Letty M. Russell: A Feminist Liberation Approach to Educating for Justice

ERIC Educational Resources Information Center

Brady, Judith Ann

2008-01-01

This article examines the Rev. Dr. Letty M. Russell's feminist liberation approach to educating for justice by reviewing the major themes in her writings. Educating for justice was rooted in Russell's life and ministry, namely, a sense of God's mission to reconcile and mend the world; partnership as sharing in God's mission to effect justice; and…

Management of moyamoya syndrome in patients with Noonan syndrome.

PubMed

Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

2016-06-01

A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset.

PubMed

Yuan, Haiming; Huang, Linhuan; Hu, Xizi; Li, Qian; Sun, Xiaofang; Xie, Yingjun; Kong, Shu; Wang, Xiaoman

2016-07-02

Achondroplasia is a well-defined and common bone dysplasia. Genotype- and phenotype-level correlations have been found between the clinical symptoms of achondroplasia and achondroplasia-specific FGFR3 mutations. A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12.1 that involved the entire growth-factor receptor bound protein 10 (GRB10) gene. Using quantitative real-time PCR analysis, GRB10 was over-expressed, and, using enzyme-linked immunosorbent assays for IGF1 and IGF-binding protein-3 (IGFBP3), we found that IGF1 and IGFBP3 were low-expressed in this patient. We demonstrate that a combination of uncommon, rare and exceptional molecular defects related to the molecular bases of particular birth defects can be analyzed and diagnosed to potentially explain the observed variability in the combination of molecular defects.

Investigating Mars: Russell Crater

NASA Image and Video Library

2017-08-02

This image shows individual dunes on the floor of Russell Crater, as well as larger dunes created by individual dunes coalescing . These dunes are in the western part of the dune field. Russell Crater is located in Noachis Terra. A spectacular dune ridge and other dune forms on the crater floor have caused extensive imaging. The Odyssey spacecraft has spent over 15 years in orbit around Mars, circling the planet more than 69000 times. It holds the record for longest working spacecraft at Mars. THEMIS, the IR/VIS camera system, has collected data for the entire mission and provides images covering all seasons and lighting conditions. Over the years many features of interest have received repeated imaging, building up a suite of images covering the entire feature. From the deepest chasma to the tallest volcano, individual dunes inside craters and dune fields that encircle the north pole, channels carved by water and lava, and a variety of other feature, THEMIS has imaged them all. For the next several months the image of the day will focus on the Tharsis volcanoes, the various chasmata of Valles Marineris, and the major dunes fields. We hope you enjoy these images! Orbit Number: 26372 Latitude: -54.372 Longitude: 12.5481 Instrument: VIS Captured: 2007-11-24 17:16 https://photojournal.jpl.nasa.gov/catalog/PIA21800

Investigating Mars: Russell Crater

NASA Image and Video Library

2017-08-07

This image shows the central part of the dune field on the floor of Russell Crater. The large ridge "bends" about 60 degrees from parallel to the right side of the image to angle towards the upper left corner. Russell Crater is located in Noachis Terra. A spectacular dune ridge and other dune forms on the crater floor have caused extensive imaging. The Odyssey spacecraft has spent over 15 years in orbit around Mars, circling the planet more than 69000 times. It holds the record for longest working spacecraft at Mars. THEMIS, the IR/VIS camera system, has collected data for the entire mission and provides images covering all seasons and lighting conditions. Over the years many features of interest have received repeated imaging, building up a suite of images covering the entire feature. From the deepest chasma to the tallest volcano, individual dunes inside craters and dune fields that encircle the north pole, channels carved by water and lava, and a variety of other feature, THEMIS has imaged them all. For the next several months the image of the day will focus on the Tharsis volcanoes, the various chasmata of Valles Marineris, and the major dunes fields. We hope you enjoy these images! Orbit Number: 34232 Latitude: -54.4921 Longitude: 12.9013 Instrument: VIS Captured: 2009-09-01 23:04 https://photojournal.jpl.nasa.gov/catalog/PIA21804

Fall Frost Accumulation on Russell Crater Dunes

NASA Image and Video Library

2014-02-05

In an area like Russell Crater, very ancient impact crater, NASA Mars Reconnaissance Orbiter can follow changes in the terrain by comparing images taken at different times. Frost carbon dioxide ice is seen in this image.

Obituary: Louise May Russell, 1905-2009

USDA-ARS?s Scientific Manuscript database

This tribute is presented in recognition of a truly remarkable woman scientist– Miss Louise May Russell. She transformed herself from a farm girl in a small town in upstate New York to a world renowned entomologist who studied aphids, psyllids, scale insects, and whiteflies. She started her scient...

[Prevalence of metabolic syndrome components in patients with acute coronary syndromes].

PubMed

Zaliūnas, Remigijus; Slapikas, Rimvydas; Luksiene, Dalia; Slapikiene, Birute; Statkeviciene, Audrone; Milvidaite, Irena; Gustiene, Olivija

2008-01-01

Many studies report that the components of the metabolic syndrome--arterial hypertension, abdominal obesity, diabetes mellitus, and atherogenic dyslipidemia--are associated with an increased risk of cardiovascular disease. We investigated the prevalence of different components of the metabolic syndrome and frequency of their combinations and acute hyperglycemia among patients with acute coronary syndromes. The study population consisted of 2756 patients (1670 men and 1086 women with a mean age of 63.3+/-11.3 years) with acute coronary syndromes: Q-wave myocardial infarction was present in 41.8% of patients; non-Q-wave MI, in 30.7%; and unstable angina pectoris, in 27.5%. The metabolic syndrome was found in 59.6% of the patients according to modified NCEP III guidelines. One component of the metabolic syndrome was found in 13.5% of patients; two, in 23.0%; and none, in 3.9%. Less than one-third (29.2%) of the patients had three components of the metabolic syndrome, and 30.4% of the patients had four or five components. Arterial hypertension and abdominal obesity were the most common components of the metabolic syndrome (82.2% and 65.8%, respectively). Nearly half of the patients had hypertriglyceridemia and decreased level of high-density lipoprotein cholesterol (55.0% and 51.1%, respectively), and 23.9% of patients had diabetes mellitus. Acute hyperglycemia (> or =6.1 mmol/L) without known diabetes mellitus was found in 38.1% of cases. The combination of arterial hypertension and abdominal obesity was reported in 57.8% of patients in the case of combinations of two-five metabolic syndrome components. More than half of patients with acute coronary syndromes had three or more components of the metabolic syndrome, and arterial hypertension and abdominal obesity were the most prevalent components of the metabolic syndrome.

Investigating Mars: Russell Crater - False Color

NASA Image and Video Library

2017-08-11

This image shows the western part of the dune field on the floor of Russell Crater. This is a false color image of Russell crater and it's surroundings. Sand Dunes usually appear "blue" in false color images. Russell Crater is located in Noachis Terra. A spectacular dune ridge and other dune forms on the crater floor have caused extensive imaging. The THEMIS VIS camera contains 5 filters. The data from different filters can be combined in multiple ways to create a false color image. These false color images may reveal subtle variations of the surface not easily identified in a single band image. The Odyssey spacecraft has spent over 15 years in orbit around Mars, circling the planet more than 69000 times. It holds the record for longest working spacecraft at Mars. THEMIS, the IR/VIS camera system, has collected data for the entire mission and provides images covering all seasons and lighting conditions. Over the years many features of interest have received repeated imaging, building up a suite of images covering the entire feature. From the deepest chasma to the tallest volcano, individual dunes inside craters and dune fields that encircle the north pole, channels carved by water and lava, and a variety of other feature, THEMIS has imaged them all. For the next several months the image of the day will focus on the Tharsis volcanoes, the various chasmata of Valles Marineris, and the major dunes fields. We hope you enjoy these images! Orbit Number: 59591 Latitude: -54.471 Longitude: 13.1288 Instrument: VIS Captured: 2015-05-21 10:57 https://photojournal.jpl.nasa.gov/catalog/PIA21808

Russell Crater - False Color

NASA Image and Video Library

2017-06-01

The THEMIS VIS camera contains 5 filters. The data from different filters can be combined in multiple ways to create a false color image. These false color images may reveal subtle variations of the surface not easily identified in a single band image. Today's false color image shows part of Russell Crater in Noachis Terra. Orbit Number: 59591 Latitude: -54.471 Longitude: 13.1288 Instrument: VIS Captured: 2015-05-21 10:57 https://photojournal.jpl.nasa.gov/catalog/PIA21674

James Bernard Russell: Scholar, collaborator, mentor

USDA-ARS?s Scientific Manuscript database

At the time of his untimely death in 2009, ARS scientist Dr. James B. Russell had established himself as the premier rumen microbiologist of his generation. Dr. Russell’s many contributions to the field, including much of the early work on the Cornell Net Carbohydrate System model, were the product ...

75 FR 67095 - Charles M. Russell National Wildlife Refuge and UL Bend National Wildlife Refuge, Montana

Federal Register 2010, 2011, 2012, 2013, 2014

2010-11-01

...] Charles M. Russell National Wildlife Refuge and UL Bend National Wildlife Refuge, Montana AGENCY: Fish and... conservation plan (CCP) and environmental impact statement (EIS) for Charles M. Russell and UL Bend National... are extending the comment period for review of the draft CCP and EIS for Charles M. Russell NWR and UL...

76 FR 37857 - Russell Exchange Traded Funds Trust, et al.; Notice of Application

Federal Register 2010, 2011, 2012, 2013, 2014

2011-06-28

... Exchange Traded Funds Trust, et al.; Notice of Application June 22, 2011. AGENCY: Securities and Exchange... sections 12(d)(1)(A) and (B) of the Act. APPLICANTS: Russell Exchange Traded Funds Trust (formerly, U.S. One Trust, the ``Trust''), Russell Investment Management Company (``Advisor''), and ALPS Distributors...

Investigating Mars: Russell Crater

NASA Image and Video Library

2017-08-10

This image shows the central part of the dune field on the floor of Russell Crater, including the large dune ridge. Comparing this image to yesterday's you will see a significant difference in appearance. This image was collected at a higher incidence angle, so the sun is at a different angle to the surface. Russell Crater is located in Noachis Terra. A spectacular dune ridge and other dune forms on the crater floor have caused extensive imaging. The Odyssey spacecraft has spent over 15 years in orbit around Mars, circling the planet more than 69000 times. It holds the record for longest working spacecraft at Mars. THEMIS, the IR/VIS camera system, has collected data for the entire mission and provides images covering all seasons and lighting conditions. Over the years many features of interest have received repeated imaging, building up a suite of images covering the entire feature. From the deepest chasma to the tallest volcano, individual dunes inside craters and dune fields that encircle the north pole, channels carved by water and lava, and a variety of other feature, THEMIS has imaged them all. For the next several months the image of the day will focus on the Tharsis volcanoes, the various chasmata of Valles Marineris, and the major dunes fields. We hope you enjoy these images! Orbit Number: 39723 Latitude: -54.4434 Longitude: 13.0526 Instrument: VIS Captured: 2010-11-28 01:47 https://photojournal.jpl.nasa.gov/catalog/PIA21807

Investigating Mars: Russell Crater

NASA Image and Video Library

2017-08-03

This image shows the western section of the large sand ridge on the floor of Russell Crater. This is also the northern extent of the dune field. The crest of the large ridge runs from lower right to upper left. Smaller dune ridges intersect the large ridge perpendicular to the crest. Russell Crater is located in Noachis Terra. A spectacular dune ridge and other dune forms on the crater floor have caused extensive imaging. The Odyssey spacecraft has spent over 15 years in orbit around Mars, circling the planet more than 69000 times. It holds the record for longest working spacecraft at Mars. THEMIS, the IR/VIS camera system, has collected data for the entire mission and provides images covering all seasons and lighting conditions. Over the years many features of interest have received repeated imaging, building up a suite of images covering the entire feature. From the deepest chasma to the tallest volcano, individual dunes inside craters and dune fields that encircle the north pole, channels carved by water and lava, and a variety of other feature, THEMIS has imaged them all. For the next several months the image of the day will focus on the Tharsis volcanoes, the various chasmata of Valles Marineris, and the major dunes fields. We hope you enjoy these images! Orbit Number: 26659 Latitude: -54.0179 Longitude: 12.8638 Instrument: VIS Captured: 2007-12-18 08:26 https://photojournal.jpl.nasa.gov/catalog/PIA21801

75 FR 39046 - Russell Brands, LLC, Fabrics Division, a Subsidiary of Fruit of the Loom, Including Employees...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-07-07

... DEPARTMENT OF LABOR Employment and Training Administration [TA-W-71,116] Russell Brands, LLC..., 2009, applicable to workers of Russell Brands, LLC, Fabrics Division, a subsidiary of Fruit of the Loom... applicable to TA-W-71,116 is hereby issued as follows: All workers of Russell Brands, LLC, Fabric Division, a...

Syndromic approach to treatment of snake bite in Sri Lanka based on results of a prospective national hospital-based survey of patients envenomed by identified snakes.

PubMed

Ariaratnam, Christeine A; Sheriff, Mohamed H Rezvi; Arambepola, Carukshi; Theakston, R David G; Warrell, David A

2009-10-01

Of 860 snakes brought to 10 hospitals in Sri Lanka with the patients they had bitten, 762 (89%) were venomous. Russell's vipers (Daboia russelii) and hump-nosed pit vipers (Hypnale hypnale) were the most numerous and H. hypnale was the most widely distributed. Fifty-one (6%) were misidentified by hospital staff, causing inappropriate antivenom treatment of 13 patients. Distinctive clinical syndromes were identified to aid species diagnosis in most cases of snake bite in Sri Lanka where the biting species is unknown. Diagnostic sensitivities and specificities of these syndromes for envenoming were 78% and 96% by Naja naja, 66% and 100% by Bungarus caeruleus, 14% and 100% by Daboia russelii, and 10% and 97% by Hypnale hypnale, respectively. Although only polyspecific antivenoms are used in Sri Lanka, species diagnosis remains important to anticipate life-threatening complications such as local necrosis, hemorrhage and renal and respiratory failure and to identify likely victims of envenoming by H. hypnale who will not benefit from existing antivenoms. The technique of hospital-based collection, labeling and preservation of dead snakes brought by bitten patients is recommended for rapid assessment of a country's medically-important herpetofauna.

Astronaut Russell Schweickart photographed during EVA

NASA Technical Reports Server (NTRS)

1969-01-01

Astronaut Russell L. Schweickart, lunar module pilot, stands in 'golden slippers' on the Lunar Module 3 porch during his extravehicular activity on the fourth day of the Apollo 9 earth-orbital mission. This photograph was taken from inside the Lunar Module 'Spider'. The Command/Service Module and Lunar Module were docked. Schweickart is wearing an Extravehicular Mobility Unit (EMU).

From the Lab Bench: A tribute to Russell Hackley, a true grass farmer

USDA-ARS?s Scientific Manuscript database

An article was written about the legacy of Russell Hackley, a stocker producer from Grayson County, who passed away on June 11, 2016 and was a strong advocate for the cattle and forage industries. In memory of Russell, I would like to discuss some things I overheard him say about agriculture and fo...

Recurrent Fever Syndromes in Patients After Recovery From Kawasaki Syndrome

PubMed Central

Tremoulet, Adriana H.; Burns, Jane C.; Bastian, John F.; Hoffman, Hal M.

2011-01-01

The recurrence of fever in a child with a history of Kawasaki syndrome (KS) poses a dilemma for clinicians who must consider the possibility of recurrent KS. In this report we present the cases of 4 patients who presented with classical symptoms of KS, were successfully treated with intravenous immunoglobulin, and later experienced a reappearance of inflammatory symptoms in a pattern consistent with a recurrent fever syndrome. The association of these syndromes within the same patient suggests that some patients may have a genetic propensity toward altered immune responses and autoinflammatory syndromes. We propose that these 2 syndromes exist within a family of febrile disorders related to innate immune dysregulation. PMID:21220401

[Asthenic syndrome in patients with burnout syndrome].

PubMed

Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

2013-01-01

The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

Argyria secondary to ingestion of homemade silver solution.

PubMed

Brandt, Douglas; Park, Betty; Hoang, Mai; Jacobe, Heidi T

2005-08-01

Argyria is a rare skin disease caused by cutaneous deposition of silver granules in the skin as a result of exposure to silver substrate or ingestion of silver salt. This report describes a patient with generalized argyria caused by ingestion of homemade colloidal silver solution. The patient learned about the uses of the silver solution and its preparation at a convention for "natural medicine."

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

PubMed Central

2013-01-01

Background Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with abnormalities in 11p15.5 imprinted genes. The most common cause is loss of methylation (epimutation) at the imprinting control centre 2 (IC2/KvDMR1). Most IC2 epimutations occur sporadically but an association with conception after assisted reproductive technologies (ART) has been reported. A subgroup of IC2 epimutation cases also harbour epimutations at other imprinting centres (ICs) outside of 11p15.5. We have investigated the relationship between these multiple epimutation cases (ME+), history of ART and clinical phenotype in a cohort of 187 BWS IC2 epimutation patients. Results Methylation analysis at PLAGL1, MEST and IGF2R ICs demonstrated an over-representation of patients with abnormally low methylation (8.5%, 12% and 6% respectively). At IGF2R some patients (2%) had gain of methylation but this was also detected in controls. Though there were no significant correlations between the methylation index (MIs) at the three ICs tested, a subset of patients appeared to be susceptible to multiple epimutations (ME+) and 21.2% of ME + patients had been conceived by ART compared to 4.5% (P = 0.0033) without additional epimutations. Methylation array profiling (Illumina Goldengate®) of patients and controls (excluding 11p15.5 loci) demonstrated significant differences between patients and controls. No significant associations were found between aspects of the BWS phenotype and individual epimutations but we describe a case presenting with a post-ART BWS-like phenotype in which molecular analysis demonstrated loss of paternal allele methylation at the 11p15.5 IC1 locus (IC1 regulates imprinting of IGF2 and H19). Loss of paternal allele methylation at the IC1 is the molecular finding associated with Silver-Russell syndrome whereas BWS is associated with gain of maternal allele methylation at IC1. Further analysis demonstrated epimutations at PLAGL1 and MEST

Investigating Mars: Russell Crater

NASA Image and Video Library

2017-08-08

This image shows part of the dune field just south of the large sand ridge - which is visible on the very top of the image. There is a huge range of dune sizes on the floor of Russell Crater. In this image the small sizes are at the bottom of the image and transition to larger dunes at the top. Russell Crater is located in Noachis Terra. A spectacular dune ridge and other dune forms on the crater floor have caused extensive imaging. The Odyssey spacecraft has spent over 15 years in orbit around Mars, circling the planet more than 69000 times. It holds the record for longest working spacecraft at Mars. THEMIS, the IR/VIS camera system, has collected data for the entire mission and provides images covering all seasons and lighting conditions. Over the years many features of interest have received repeated imaging, building up a suite of images covering the entire feature. From the deepest chasma to the tallest volcano, individual dunes inside craters and dune fields that encircle the north pole, channels carved by water and lava, and a variety of other feature, THEMIS has imaged them all. For the next several months the image of the day will focus on the Tharsis volcanoes, the various chasmata of Valles Marineris, and the major dunes fields. We hope you enjoy these images! Orbit Number: 34544 Latitude: -54.6035 Longitude: 12.6071 Instrument: VIS Captured: 2009-09-27 15:35 https://photojournal.jpl.nasa.gov/catalog/PIA21805

Venom Concentrations and Clotting Factor Levels in a Prospective Cohort of Russell's Viper Bites with Coagulopathy.

PubMed

Isbister, Geoffrey K; Maduwage, Kalana; Scorgie, Fiona E; Shahmy, Seyed; Mohamed, Fahim; Abeysinghe, Chandana; Karunathilake, Harendra; O'Leary, Margaret A; Gnanathasan, Christeine A; Lincz, Lisa F

2015-01-01

Russell's viper envenoming is a major problem in South Asia and causes venom induced consumption coagulopathy. This study aimed to investigate the kinetics and dynamics of venom and clotting function in Russell's viper envenoming. In a prospective cohort of 146 patients with Russell's viper envenoming, we measured venom concentrations, international normalised ratio [INR], prothrombin time (PT), activated partial thromboplastin time (aPTT), coagulation factors I, II, V, VII, VIII, IX and X, and von Willebrand factor antigen. The median age was 39 y (16-82 y) and 111 were male. The median peak INR was 6.8 (interquartile range [IQR]: 3.7 to >13), associated with low fibrinogen [median,<0.01 g/L; IQR: <0.01-0.9 g/L), low factor V levels [median,<5%; IQR: <5-4%], low factor VIII levels [median,40%; IQR: 12-79%] and low factor X levels [median, 48%; IQR: 29-67%]. There were smaller reductions in factors II, IX and VII over time. All factors recovered over 48 h post-antivenom. The median INR remained >3 at 6 h post-antivenom but had reduced to <2, by 24 h. The aPTT had also returned to close to normal (<50 sec) at 24 h. Factor VII, VIII and IX levels were unusually high pre-antivenom, median peak concentrations of 393%, 307% and 468% respectively. Pre-antivenom venom concentrations and the INR (r = 0.20, p = 0.02) and aPTT (r = 0.19, p = 0.03) were correlated (non-parametric Spearman analysis). Russell's viper coagulopathy results in prolonged aPTT, INR, low fibrinogen, factors V, VIII and X which recover over 48 h. Severity of clotting abnormalities was associated with venom concentrations.

Malignant vasovagal syndrome in two patients with Wolff-Parkinson-White syndrome

PubMed Central

Gandhi, N M; Bennett, D H

2004-01-01

The presence of Wolff-Parkinson-White (WPW) syndrome in patients presenting with syncope suggests that tachyarrhythmia may be the cause. However, the symptoms require careful evaluation. Two young patients presented with syncope and were found to have WPW syndrome on their ECG. In both patients symptoms were suggestive of vasovagal syncope. During tilt testing, both the patients developed their typical symptoms with a fall in blood pressure and heart rate confirming the diagnosis of malignant vasovagal syndrome. PMID:15020537

W. Ritchie Russell, A.B. Baker, and Fred Plum: Pioneers of ventilatory management in poliomyelitis.

PubMed

Wijdicks, Eelco F M

2016-09-13

Historically, neurologists were not involved in the day-to-day management of critically ill patients with bulbar poliomyelitis, but some were. The major contributions of 3 neurologists-W. Ritchie Russell, A.B. Baker, and Fred Plum-in the respiratory management of poliomyelitis have not been recognized. Russell's work was instrumental in identifying multiple types of poliomyelitis defined by their respiratory needs, and he advised treatment that varied from simple postural drainage to use of respirators. He participated in the development of the Radcliffe respiratory pump. Baker recognized the essential involvement of the vagal nerve in respiratory distress, but also observed that involvement of vital centers without cranial nerve involvement would lead to irregular and shallow respiration in some patients and in others with marked dysautonomic features. A similar finding of central involvement of respiration was noted by Plum, who also stressed the importance of hypercapnia. Plum emphasized measurements of vital capacity and techniques to minimize trauma with suctioning after tracheostomy. These 3 neurologists understood the importance of airway and ventilator management, which is currently one of the many pillars of neurocritical care. © 2016 American Academy of Neurology.

A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

PubMed

Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

2014-07-01

To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

Russell Crater Dunes - False Color

NASA Image and Video Library

2017-07-07

The THEMIS VIS camera contains 5 filters. The data from different filters can be combined in multiple ways to create a false color image. These false color images may reveal subtle variations of the surface not easily identified in a single band image. Today's false color image shows part of the large dune form on the floor of Russell Crater. Orbit Number: 59672 Latitude: -54.337 Longitude: 13.1087 Instrument: VIS Captured: 2015-05-28 02:39 https://photojournal.jpl.nasa.gov/catalog/PIA21701

Myelodysplastic Syndrome Occurring in a Patient with Gorlin Syndrome.

PubMed

Mull, Jamie L; Madden, Lisa M; Bayliss, Susan J

2016-07-01

We report a case of myelodysplastic syndrome (MDS) occurring in an African American boy with Gorlin syndrome with a novel PTCH1 mutation. Before developing MDS, the patient had been treated with chemotherapy and radiation for a medulloblastoma. He received a bone marrow transplant for the MDS and eventually died of treatment complications. Secondary hematologic malignancies are a known complication of certain chemotherapeutics, although whether a patient with Gorlin syndrome has a greater propensity for the development of such malignancies is unclear. © 2016 Wiley Periodicals, Inc.

Wolff-Parkinson-White syndrome in Patients With MELAS.

PubMed

Sproule, Douglas M; Kaufmann, Petra; Engelstad, Kristen; Starc, Thomas J; Hordof, Allan J; De Vivo, Darryl C

2007-11-01

Tissues with high energy demands, such as the heart, are susceptible to the effects of mitochondrial DNA point mutations. To investigate the frequency of Wolff-Parkinson-White (WPW) syndrome among a phenotypically and genotypically homogeneous cohort of patients with MELAS (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes) and the A3243G mutation most commonly associated with MELAS syndrome. Survey. The Pediatric Neuromuscular Disease Center at Columbia University. Patients Thirty patients with the A3243G mutation and MELAS syndrome enrolled in a clinical trial to assess the effect of dichloroacetate on neurologic symptoms. Medical histories and electrocardiograms were reviewed and DNA samples from fibroblasts, urine and cheek epithelial cells, leukocytes, and hair were analyzed to determine mitochondrial mutation abundance and estimate total mutation burden. Four of 30 patients (13%) had a clinical history of, or electrocardiographic findings consistent with, WPW syndrome. In 2 patients, WPW syndrome preceded MELAS syndrome by 15 and 21 years. The tissue burden of mutant mitochondria was similar in patients with (49.4%) and without (39.1%) WPW syndrome. The prevalence of WPW syndrome among patients with MELAS syndrome and the A3243G mutation appears much higher than in the normal population and may become manifest earlier than neurologic symptoms. Patients with WPW syndrome and neurologic abnormalities consistent with MELAS syndrome, such as seizures, deafness, short stature, and stroke, should be screened for the A3243G mutation. Moreover, patients with MELAS syndrome should be monitored for cardiac anomalies including cardiomyopathy and WPW syndrome.

Russell body inducing threshold depends on the variable domain sequences of individual human IgG clones and the cellular protein homeostasis.

PubMed

Stoops, Janelle; Byrd, Samantha; Hasegawa, Haruki

2012-10-01

Russell bodies are intracellular aggregates of immunoglobulins. Although the mechanism of Russell body biogenesis has been extensively studied by using truncated mutant heavy chains, the importance of the variable domain sequences in this process and in immunoglobulin biosynthesis remains largely unknown. Using a panel of structurally and functionally normal human immunoglobulin Gs, we show that individual immunoglobulin G clones possess distinctive Russell body inducing propensities that can surface differently under normal and abnormal cellular conditions. Russell body inducing predisposition unique to each immunoglobulin G clone was corroborated by the intrinsic physicochemical properties encoded in the heavy chain variable domain/light chain variable domain sequence combinations that define each immunoglobulin G clone. While the sequence based intrinsic factors predispose certain immunoglobulin G clones to be more prone to induce Russell bodies, extrinsic factors such as stressful cell culture conditions also play roles in unmasking Russell body propensity from immunoglobulin G clones that are normally refractory to developing Russell bodies. By taking advantage of heterologous expression systems, we dissected the roles of individual subunit chains in Russell body formation and examined the effect of non-cognate subunit chain pair co-expression on Russell body forming propensity. The results suggest that the properties embedded in the variable domain of individual light chain clones and their compatibility with the partnering heavy chain variable domain sequences underscore the efficiency of immunoglobulin G biosynthesis, the threshold for Russell body induction, and the level of immunoglobulin G secretion. We propose that an interplay between the unique properties encoded in variable domain sequences and the state of protein homeostasis determines whether an immunoglobulin G expressing cell will develop the Russell body phenotype in a dynamic cellular setting

1. Historic American Buildings Survey E. W. Russell, Photographer, November ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, November 5, 1936 FRONT ELEVATION (SOUTH) - Government Street Presbyterian Church, Government & Jackson Streets, Mobile, Mobile County, AL

Metabolic syndrome in Tunisian bipolar I patients.

PubMed

Ezzaher, A; Haj, Mouhamed D; Mechri, A; Neffati, F; Douki, W; Gaha, L; Najjar, M F

2011-09-01

The metabolic syndrome is a growing global public health problem which is frequently associated with psychiatric illness. To evaluate the prevalence of metabolic syndrome and to study its profile in Tunisian bipolar I patients. Our study included 130 patients with bipolar I disorder diagnosed according to the DSM-IV and assessed for metabolic syndrome according to the National Cholesterol Education Program (NCEP) Adult Treatment Panel (ATP) III modified criteria. The mean age was 37.9 ± 12.1 years, 45 were women (mean age 37.5 ± 13.4 years) and 85 were men (mean age 38.1 ± 11.4 years). The prevalence of metabolic syndrome was 26.1%.The highest prevalence of this syndrome was obtained by association between obesity, low c-HDL and hypertriglyceridemia (44.1%). In the total sample, 59.2% met the criteria for low c-HDL, 53.1% for hypertriglyceridemia, 33.8% for obesity, 16.1% for high fasting glucose and 5.4% for hypertension. Gender, age, illness episode and treatment were not significantly associated with metabolic syndrome, while patients under lithium had higher prevalence of metabolic syndrome than those under valproic acid, carbamazepine or antipsychotics. Patients with metabolic syndrome had significant higher levels of HOMA-IR and uric acid than metabolic syndrome free patients (p< 0.001). Bipolar patients have high prevalence of metabolic syndrome which is associated with insulin resistance and an increase of uric acid values that raise the risk of cardiovascular disease.

2. Historic American Buildings Survey Russell Jones, Photographer June 1963 ...

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

2. Historic American Buildings Survey Russell Jones, Photographer June 1963 SOUTHEAST VIEW - Abner Cloud House, Intersection of Canal Road & Reservoir Road Northwest, Washington, District of Columbia, DC

1. Historic American Buildings Survey Russell Jones, Photographer June 1963 ...

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

1. Historic American Buildings Survey Russell Jones, Photographer June 1963 SOUTHWEST VIEW - Abner Cloud House, Intersection of Canal Road & Reservoir Road Northwest, Washington, District of Columbia, DC

1. Historic American Buildings Survey COPIED E. W. Russell, ...

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

1. Historic American Buildings Survey COPIED - E. W. Russell, Photographer, August 31, 1936 75TH ANNIVERSARY YEARBOOK (NOT COPYRIGHT) - VIEW OF ORIGINAL BUILDING - Spring Hill College, Original Building, Old Shell Road, Spring Hill, Mobile County, AL

4. Historic American Buildings Survey E. W. Russell, Photographer, August ...

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

4. Historic American Buildings Survey E. W. Russell, Photographer, August 4, 1936 REFLECTED VIEW OF PORTICO CEILING - Government Street Presbyterian Church, Government & Jackson Streets, Mobile, Mobile County, AL

Russell's Practice of Science vs. His Picture of Science and Its Place in Liberal Education.

ERIC Educational Resources Information Center

Winchester, Ian

2001-01-01

Relates Bertrand Russell's picture of science, as he actually practiced it, to his picture of liberal education, as he exemplified it, and compares these to what he said about the nature of science and of liberal education. Suggests Russell's practice of scientific thought was much more original and interesting than is "rather…

12. Historic American Buildings Survey E. W. Russell, Photographer, August ...

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

12. Historic American Buildings Survey E. W. Russell, Photographer, August 4, 1936 EAST SIDE STAIR HEAD (BALCONY FLOOR) - Government Street Presbyterian Church, Government & Jackson Streets, Mobile, Mobile County, AL

5. Historic American Buildings Survey E. W. Russell, Photographer, August ...

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

5. Historic American Buildings Survey E. W. Russell, Photographer, August 4, 1936 CLOSE-UP OF MAIN ENTRANCE (FRONT) - Government Street Presbyterian Church, Government & Jackson Streets, Mobile, Mobile County, AL

9. Historic American Buildings Survey E. W. Russell, Photographer, August ...

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

9. Historic American Buildings Survey E. W. Russell, Photographer, August 4, 1936 CEILING AND CORNICE IN MAIN AUDITORIUM - Government Street Presbyterian Church, Government & Jackson Streets, Mobile, Mobile County, AL

13. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

13. Historic American Buildings Survey E. W. Russell, Photographer, September 15, 1936 STAIR ON E. WALL OF BASEMENT - Government Street Presbyterian Church, Government & Jackson Streets, Mobile, Mobile County, AL

9. Historic American Buildings Survey E. W. Russell, Photographer, February ...

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

9. Historic American Buildings Survey E. W. Russell, Photographer, February 28, 1935 MAIN BUILDING (ADMINISTRATION) WEST - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.

PubMed

Wineland, Andre; Menezes, Maithilee D; Shimony, Joshua S; Shinawi, Marwan S; Hullar, Timothy E; Hirose, Keiko

2017-02-01

CHARGE syndrome refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and ear anomalies. However, Verloes revised the characteristics of CHARGE syndrome in 2005 to define this syndrome more broadly. Deficiency of the semicircular canals is now a major criterion for CHARGE syndrome. To characterize patients with CHARGE syndrome at our center using Verloes' criteria and to reevaluate the nomenclature for this condition. We performed a medical chart review of patients with CHARGE syndrome and reviewed their temporal bone imaging studies at a tertiary care children's hospital affiliated with Washington University in St Louis. Two authors independently reviewed each imaging study (A.W. and K.H.). Radiologic studies, physical findings, genetic tests, and other diagnostic tests were included. Patients with no temporal bone imaging studies were excluded. Eighteen children were included in this study; 13 children (72%) were male, and the mean (median; range) age of patients at the time of inner ear imaging studies was 2 years (4.5 years; 8 months to 8 years). Coloboma was present in 13 patients (72%) and choanal atresia in 5 (28%); semicircular canal anomalies were present in all patients. Additionally, 13 patients (72%) were diagnosed as having hindbrain anomalies, 17 (94%) as having endocrine disorders, 17 (94%) as having mediastinal organ malformations, and all as having middle or external ear abnormalities and development delay. Cleft lip and cleft palate were found in 6 of 14 patients (43%) who did not have choanal atresia. We tested 16 patients for mutations in the CHD7 gene; 10 were positive (63%) for mutations, 4 (25%) were negative, and 2 (13%) were inconclusive. Semicircular canal anomalies were the most consistent finding in our patients with CHARGE syndrome. Given the high prevalence of semicircular canal hypoplasia and importance of imaging for diagnosing CHARGE syndrome, we

Incidence of refeeding syndrome in internal medicine patients.

PubMed

Kraaijenbrink, B V C; Lambers, W M; Mathus-Vliegen, E M H; Siegert, C E H

2016-03-01

Refeeding syndrome is a potentially fatal shift of fluids and electrolytes that may occur after reintroducing nutrition in a malnourished patient. Its incidence in internal medicine patients is not known. We aimed at determining the incidence in a heterogeneous group of patients acutely admitted to a department of internal medicine. All patients acutely admitted to the department of internal medicine of a teaching community hospital in Amsterdam, the Netherlands, between 22 February 2011 and 29 April 2011, were included. We applied the National Institute for Health and Care Excellence (NICE) criteria for determining people at risk of refeeding syndrome and took hypophosphataemia as the main indicator for the presence of this syndrome. Of 178 patients included in the study, 97 (54%) were considered to be at risk of developing refeeding syndrome and 14 patients actually developed the syndrome (14% of patients at risk and 8% of study population). Patients with a malignancy or previous malignancy were at increased risk of developing refeeding syndrome (p < 0.05). Measurement of muscle strength over time was not associated with the occurrence of refeeding syndrome. The Short Nutritional Assessment Questionnaire score had a positive and negative predictive value of 13% and 95% respectively. The incidence of refeeding syndrome was relatively high in patients acutely admitted to the department of internal medicine. Oncology patients are at increased risk of developing refeeding syndrome. When taking the occurrence of hypophosphataemia as a hallmark, no other single clinical or composite parameter could be identified that accurately predicts the development of refeeding syndrome.

[Guillain-Barré syndrome in a patient with primary sicca syndrome].

PubMed

Pryszmont, M; Sierakowski, S; Popławska, T; Domysławska, I; Pryszmont, J; Pawlak-Tumiel, B

2000-01-01

At the age of 23 the patient showed the first signs of dryness syndrome. Those symptoms developed progressively and during a few years primary Sjögren syndrome was noted. In the 37th year of life suddenly the patient developed very severe Gullian-Barré syndrome with involvement of the peripheral and central nervous system and with a considerable autonomic component. After treatment the patient improved, however mild symptoms of central and peripheral nervous system destruction remained. Those symptoms are still present and the patient is under the care of the Neurology and Rheumatology Clinic.

Prevalence of Burnout Syndrome in patients admitted with acute coronary syndrome.

PubMed

Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

2015-03-01

Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp's Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

PubMed Central

Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

2015-01-01

Background Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). Objective To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Methods Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp’s Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Results Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. Conclusion We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital. PMID:25517388

1. Historic American Buildings Survey Russell Jones, Photographer March 1959 ...

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

1. Historic American Buildings Survey Russell Jones, Photographer March 1959 FRONT (SOUTH) ELEVATION FROM THE SOUTH EAST. - Justice Horace Gray House, 1601 Eye Street Northwest, Washington, District of Columbia, DC

8. Historic American Buildings Survey E. W. Russell, Photographer, August ...

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

8. Historic American Buildings Survey E. W. Russell, Photographer, August 4 1936. GENERAL VIEW OF CEILING IN MAIN AUDITORIUM. - Government Street Presbyterian Church, Government & Jackson Streets, Mobile, Mobile County, AL

12. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

12. Historic American Buildings Survey E. W. Russell, Photographer, June 7, 1935 PANELED WINDOW BASES, FRONT ROOM MAIN FLOOR - Oakleigh, House & Slave Quarters, 350 Oakleigh Place, Mobile, Mobile County, AL

8. Historic American Buildings Survey E. W. Russell, Photographer, January ...

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

8. Historic American Buildings Survey E. W. Russell, Photographer, January 15, 1937 OLD SMOKE HOUSE - FRONT (WEST), SOUTH SIDE - Vogtner Farm (House & Smokehouse), Jeff Hamilton Road vicinity, Dawes, Mobile County, AL

3. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

3. Historic American Buildings Survey E. W. Russell, Photographer, September 1, 1936 STEPS AND RAILINGS, LYONS HOME - 300 STATE STREET - Patrick Lyons House (Ironwork), 300 State Street, Mobile, Mobile County, AL

6. Historic American Buildings Survey Russell Jones, Photographer February 1959 ...

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

6. Historic American Buildings Survey Russell Jones, Photographer February 1959 COLUMN DETAIL, ENTRY PORCH, 2620 K STREET, N.W. - Peter Houses, 2618-2620 K Street Northwest, Washington, District of Columbia, DC

1. Historic American Buildings Survey E. W. Russell, Photographer, August ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, August 23, 1936 FRONT ELEVATION, MRS. ALBERT QUIGLEY - 751 GOVERNMENT STREET - Gilmore-Gaines-Quigley House, 751 Government Street, Mobile, Mobile County, AL

3. Historic American Buildings Survey E. W. Russell, Photographer, August ...

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

3. Historic American Buildings Survey E. W. Russell, Photographer, August 4, 1936 DENTIL, COLUMN AND PILASTER CAPS, SOUTH ELEVATION (FRONT) - Government Street Presbyterian Church, Government & Jackson Streets, Mobile, Mobile County, AL

11. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

11. Historic American Buildings Survey E. W. Russell, Photographer, June 17, 1937 FIREPLACE, NORTH WALL OF NORTH SIDE FRONT ROOM OF MAIN HOUSE. - Wewoka, Riser Mill Road, Sylacauga, Talladega County, AL

14. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

14. Historic American Buildings Survey E. W. Russell, Photographer, June 17, 1937 OLD WATER POWER GRIST MILL, NORTHEAST OF MAIN HOUSE, LOOKING EAST. - Wewoka, Riser Mill Road, Sylacauga, Talladega County, AL

10. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

10. Historic American Buildings Survey E. W. Russell, Photographer, June 17, 1937 FIREPLACE AND MANTEL. SOUTH WALL OF SOUTH FRONT ROOM, FIRST STORY. - Wewoka, Riser Mill Road, Sylacauga, Talladega County, AL

12. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

12. Historic American Buildings Survey E. W. Russell, Photographer, June 17, 1937 FIREPLACE AND MANTEL, SOUTH WALL OF SOUTH SIDE ROOM, SECOND STORY. - Wewoka, Riser Mill Road, Sylacauga, Talladega County, AL

6. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

6. Historic American Buildings Survey E. W. Russell, Photographer, June 19, 1937 NORTH WALL & FIREPLACE, NORTH SIDE ROOM, SECOND STORY. - Jenkins-Carlton-Autry House, County Road 52, Alpine, Talladega County, AL

9. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

9. Historic American Buildings Survey E. W. Russell, Photographer, June 19, 1937 OLD SMOKEHOUSE (CONVERTED INTO GARAGE) LOOKING SLIGHTLY NORTHEAST. - Jenkins-Carlton-Autry House, County Road 52, Alpine, Talladega County, AL

3. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

3. Historic American Buildings Survey E. W. Russell, Photographer, June 19, 1937 CLOSE-UP OF FRONT ENTRANCE FROM SOUTH SIDE. - Jenkins-Carlton-Autry House, County Road 52, Alpine, Talladega County, AL

41. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

41. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 CORNICE AROUND ROTUNDA WALL, THIRD FLOOR - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

3. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

3. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 NORTH ELEVATION (FRONT) LOOKING SOUTH EAST - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

The Lauramann Howe Russell Papers: a Window into Critical Care Medicine during the American Civil War.

PubMed

Gorbaty, Benjamin

2017-10-01

The Civil War influenced all aspects of American society and culture, including the field of medicine and critical care. Union physician Lauramann Howe Russell's letter to his daughter, Ellen Howe, written on October 19, 1862, illustrates the changes in hospital construction, gender roles in healthcare and medical treatments which revolutionized healthcare during the Civil War. This letter offers a glimpse of the medical care of wounded soldiers during the early years of the Civil War. In describing his conversion hospital, he reveals the precursor to the new hospital construction which would greatly influence hospital design for decades to come. His description of women volunteers hints at the evolving role and growing importance of women in healthcare. Finally, the advancements in surgical and medical practice which developed during the Civil War are embodied in Russell's descriptions of his patients. His letter freezes a moment in medical history, bridging the gap between archaic medical practice and modern critical care. Copyright © 2017 Elsevier Inc. All rights reserved.

Proteomic profiles in hyperandrogenic syndromes.

PubMed

Misiti, S; Stigliano, A; Borro, M; Gentile, G; Michienzi, S; Cerquetti, L; Bucci, B; Argese, N; Brunetti, E; Simmaco, M; Toscano, V

2010-03-01

Polycystic ovary syndrome (PCOS) and congenital adrenal hyperplasia (CAH) represent the most common causes of hyperandrogenism. Although the etiopathogeneses of these syndromes are different, they share many clinical and biochemical signs, such as hirsutism, acne, and chronic anovulation. Experimental data have shown that peripheral T-lymphocytes function as molecular sensors, being able to record molecular signals either at staminal and mature cell levels, or hormones at systemic levels. Twenty PCOS women and 10 CAH with 21-hydroxylase deficiency, aged between 18-35 yr, were studied. T-cells purified from all patients and 20 healthy donors have been analyzed by 2-dimensional gel electrophoresis. Silver-stained proteomic map of each patient was compared with a control map obtained by pooling protein samples of the 20 healthy subjects. Spots of interest were identified by peptide mass fingerprint. Computer analysis evidenced several peptidic spots significantly modulated in all patients examined. Some proteins were modulated in both syndromes, others only in PCOS or in CAH. These proteins are involved in many physiological processes as the functional state of immune system, the regulation of the cytoskeleton structure, the oxidative stress, the coagulation process, and the insulin resistance. Identification of the physiological function of these proteins could help to understand ethiopathogenetic mechanisms of hyperandrogenic syndromes and its complications.

1. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, September 1, 1936 FRONT ELEVATION, P. J. LYONS HOME - 300 STATE STREET - Patrick Lyons House (Ironwork), 300 State Street, Mobile, Mobile County, AL

10. Historic American Buildings Survey E. W. Russell, Photographer, August ...

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

10. Historic American Buildings Survey E. W. Russell, Photographer, August 4, 1936 INTERIOR VIEW OF WINDOW AND COLUMN UNDER SIDE BALCONY - Government Street Presbyterian Church, Government & Jackson Streets, Mobile, Mobile County, AL

7. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

7. Historic American Buildings Survey E. W. Russell, Photographer, June 19, 1937 FIREPLACE, SOUTH WALL OF SOUTH SIDE ROOM, SECOND STORY. - Jenkins-Carlton-Autry House, County Road 52, Alpine, Talladega County, AL

39. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

39. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 CLOSE-UP OF ROTUNDA BALUSTRADE, THIRD FLOOR - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

36. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

36. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 ROTUNDA, 3rd FLOOR, SHOWING N. HALL - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

24. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

24. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 N. DOOR OPENING ON PORTICO (OR ARCADE) - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

6. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

6. Historic American Buildings Survey E. W. Russell, Photographer, May 8, 1936 SOUTH ELEVATION OF W END WING (REAR) - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

2. Historic American Buildings Survey E. W. Russell, Photographer, January ...

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

2. Historic American Buildings Survey E. W. Russell, Photographer, January 8, 1937 REAR VIEW SHOWING RECENT ADDITION - Nelias Fall House, County Road 96 (Old Saint Stephens Road), Mount Vernon, Mobile County, AL

1. Historic American Buildings Survey E. W. Russell, Photographer, March ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, March 14, 1936 REAR VIEW, NORTH OF SLAVE QUARTERS - Waring House, Slave Quarters, 351 Government Street (now South Claiborne Street), Mobile, Mobile County, AL

25. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

25. Historic American Buildings Survey E. W. Russell, Photographer, June 13, 1935 HALL, S. SECTION OF BUILDING, THIRD FLOOR, SHOWING SKYLIGHT IN ROOF - Southern Hotel, 53-65 Water Street, Mobile, Mobile County, AL

2. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

2. Historic American Buildings Survey E. W. Russell, Photographer, September 1, 1936 STANDARD AND BRACKETS, P. J. LYONS HOME - 300 STATE STREET - Patrick Lyons House (Ironwork), 300 State Street, Mobile, Mobile County, AL

1. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, September 2, 1936 UPPER PORTION OF SOUTH FRONT. W. H. ROSS HOME - 602 GOVERNMENT STREET - Ross House, 602 Government Street, Mobile, Mobile County, AL

1. Historic American Buildings Survey E. W. Russell, Photographer, February ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, February 6, 1936 WROUGHT IRON GATE WITH CAST IRON ORNAMENTS, FRONT OF 605 GOVERNMENT STREET - 605 Government Street (Iron Gate), Mobile, Mobile County, AL

1. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, September 15, 1936 SIDNEY SMITH PLACE - 203 GOVERNMENT ST., FRONT ELEVATION - Sidney Smith House (Iron Gate & Balcony), 203 Government Street, Mobile, Mobile County, AL

2. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

2. Historic American Buildings Survey E. W. Russell, Photographer, September 3, 1936 FENCE IN FRONT, GOLDSBY HOME - 452 GOVERNMENT STREET - J. W. Goldsby House & Iron Fence, 452 Government Street, Mobile, Mobile County, AL

1. Historic American Buildings Survey E. W. Russell, Photographer, November ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, November 5, 1936 GATE AT EAST SIDE MINGE FLORAL CO. BUILDING, 453 GOVERNMENT STREET - 453 Government Street (Iron Gate & Fence), Mobile, Mobile County, AL

1. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, September 1, 1936 EAST SIDE AND SOUTH FRONT, 400 GOVERNMENT STREET - William H. Ketchum House & Gates (Ironwork), 400 Government Street, Mobile, Mobile County, AL

1. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, September 4, 1936 FRONT ELEVATION, M. S. BROWN - 108 S. CONCEPTION STREET - Milton S. Brown House, 108 South Conception Street, Mobile, Mobile County, AL

35. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

35. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 ROTUNDA, THIRD FLOOR, LOOKING W. FROM E. HALLWAY - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

25. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

25. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 FRONT ENTRANCE DOOR TO WEST OF MAIN ENTRANCE - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

21. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

21. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 CLOSE-UP OF IRON COLUMN CAP, SOUTH PORTICO - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

15. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

15. Historic American Buildings Survey E. W. Russell, Photographer, May 8, 1936 CLOSE-UP OF CORNICE ON REAR OF BUILDING - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

PubMed

Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

2016-05-01

In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.

PubMed

Kawashima, Sayaka; Nakamura, Akie; Inoue, Takanobu; Matsubara, Keiko; Horikawa, Reiko; Wakui, Keiko; Takano, Kyoko; Fukushima, Yoshimitsu; Tatematsu, Toshi; Mizuno, Seiji; Tsubaki, Junko; Kure, Shigeo; Matsubara, Yoichi; Ogata, Tsutomu; Fukami, Maki; Kagami, Masayo

2018-06-01

Maternal uniparental disomy for chromosome 20 [UPD(20)mat], resulting in aberrant expression of imprinted transcripts at the GNAS locus, is a poorly characterized condition. These patients manifested a phenotype similar to that of Silver-Russell syndrome (SRS) and small for gestational age-short stature (SGA-SS); however, the etiological relationship between UPD(20)mat and SRS/SGA-SS remains unclear. Moreover, no report has described endocrinological assessment of UPD(20)mat patients, although paternal UPD(20), the mirror image entity of UPD(20)mat, is known to cause multiple hormone resistance reflecting reduced α-subunit of the stimulatory G protein expression. Patients 1 to 5 showed nonmosaic heterodisomy and/or isodisomy for the entire chromosome 20. Patients 1 to 3 and 4 were identified through UPD(20)mat screening for 55 patients with etiology-unknown SRS and 96 patients with SGA-SS, respectively. Patient 5 was identified through molecular analysis for patients with developmental defects. Patients 1 to 5 manifested postnatal growth failure and feeding problems, with or without developmental delay, and other clinical features. Patients 1 to 4 were born SGA. Patients 4 and 5 exhibited hypercalcemia and low or low-normal parathyroid hormone levels. Patient 1 showed constantly decreased thyroid-stimulating hormone (TSH) levels after 12 years of age, although she had a normal TSH level at 5.2 years of age. The results suggest that UPD(20)mat underlies growth failure and feeding problems with additional features and could account for >5% of etiology-unknown SRS and small percentages of SGA-SS. Most important, this study provides an indication that UPD(20)mat can be associated with hypersensitivity of hormone receptors, which may gradually develop with age.

A New Method for Obtaining Russell-Saunders Terms

ERIC Educational Resources Information Center

Liu, Ying; Liu, Yue; Liu, Bihui

2011-01-01

A new method for obtaining Russell-Saunders terms of atomic configurations is reported. This new method is significantly different from, while at the same time complementary to, previously published methods for obtaining atomic terms. This novel procedure is elicited by the method used to determine the splitting of S, P, D terms in weak ligand…

Musical ear syndrome in adult cochlear implant patients.

PubMed

Low, W-K; Tham, C A; D'Souza, V-D; Teng, S-W

2013-09-01

Except for a single case report, musical ear syndrome in cochlear implantees has not been studied. We aimed to study the prevalence and nature of musical ear syndrome among adult cochlear implant patients, as well as the effect on their emotional well-being. STUDY DESIGN, PATIENTS AND INTERVENTION: A cross-sectional survey of patients aged 18 years and above who had received cochlear implants for profound hearing loss between 1997 and 2010. Of the 82 patients studied, 18 (22 per cent) were found to have experienced musical ear syndrome. Seven and 11 patients had musical ear syndrome prior to and after cochlear implantation, respectively. The character of musical ear syndrome symptoms was described as instrumental music (n = 2), singing (6) or both (10). Fourteen patients reported an adverse emotional effect, with three expressing ‘intolerance’. In this study, 22 per cent of cochlear implantees experienced musical ear syndrome. These symptoms affected patients’ emotional state, but most coped well. Musical ear syndrome can occur prior to and after cochlear implantation.

1. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, September 4, 1936 EAST END OF PORCH, OWEN FINNIGAN PLACE - 752 GOVERNMENT STREET - Captain Owen Finnigan House (Ironwork), 752 Government Street, Mobile, Mobile County, AL

3. Historic American Buildings Survey E. W. Russell, Photographer, August ...

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

3. Historic American Buildings Survey E. W. Russell, Photographer, August 23, 1936 CLOSE- UP BRACKETS AND FRIEZE, MRS. ALBERT QUIGLEY - 751 GOVERNMENT STREET - Gilmore-Gaines-Quigley House, 751 Government Street, Mobile, Mobile County, AL

5. Historic American Buildings Survey E. W. Russell, Photographer, October ...

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

5. Historic American Buildings Survey E. W. Russell, Photographer, October 5, 1936 VIEW IN FRONT PORCH, TOWARDS EAST, SHOWING FRONT ENTRANCE - J. J. McMahon House, 456 Saint Francis Street, Mobile, Mobile County, AL

11. Historic American Buildings Survey E. W. Russell, Photographer, October ...

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

11. Historic American Buildings Survey E. W. Russell, Photographer, October 5, 1936 INTERIOR OF FRENCH WINDOW, W. FRONT ROOM, SOUTH WALL - J. J. McMahon House, 456 Saint Francis Street, Mobile, Mobile County, AL

20. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

20. Historic American Buildings Survey E. W. Russell, Photographer, May 26, 1936 MANTEL AND SOAPSTONE HEARTH, E. WALL OF S. ROOM, 4th FLOOR - 67-69 Government Street (Commercial Building), Mobile, Mobile County, AL

5. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

5. Historic American Buildings Survey E. W. Russell, Photographer, June 19, 1937 FIREPLACE, NORTH WALL OF NORTH SIDE. FRONT ROOM OR DINING ROOM. - Jenkins-Carlton-Autry House, County Road 52, Alpine, Talladega County, AL

20. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

20. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 CLOSE-UP OF STUCCO PORTICO COLUMN (SOUTH) FIRST FLOOR - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

22. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

22. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 BASE OF IRON COLUMN TO PORTICO (SOUTH) FIRST FLOOR - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

76 FR 23342 - Russell Investment Management Company, et al.;

Federal Register 2010, 2011, 2012, 2013, 2014

2011-04-26

...] Russell Investment Management Company, et al.; Notice of Application April 20, 2011. AGENCY: Securities...: Applicants request an order that would permit (a) series of certain open-end management investment companies... registered management investment companies and unit investment trusts outside of the same group of investment...

77 FR 67829 - Charles M. Russell National Wildlife Refuge and UL Bend National Wildlife Refuge, MT...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-11-14

...-FXRS1266066CCP0S3-123] Charles M. Russell National Wildlife Refuge and UL Bend National Wildlife Refuge, MT... final comprehensive conservation plan (CCP) and final environmental impact statement (EIS) for Charles M....gov . Include ``Request copy of Charles M. Russell NWR ROD'' in the subject line of the message. U.S...

76 FR 142 - Notice of Prevention of Significant Deterioration Final Determination for Russell City Energy Center

Federal Register 2010, 2011, 2012, 2013, 2014

2011-01-03

... Deterioration (PSD) Permit issued to Russell City Energy Center, LLC by the Bay Area Air Quality Management... under authority of a PSD delegation agreement dated February 4, 2008, issued a PSD permit to Russell... Petitions for Review of the PSD decision with the EAB. The EAB issued an Order denying the Petitions for...

1. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, September 1, 1936 FRONT ELEVATION, R. H. REDWOOD HOME - 260 ST. LOUIS STREET - R. H. Redwood House (Ironwork), 260 Saint Louis Street, Mobile, Mobile County, AL

4. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

4. Historic American Buildings Survey E. W. Russell, Photographer, September 1, 1936 EAST HALF OF REAR, WILLIAM H. KETCHUM - 400 GOVERNMENT STREET - William H. Ketchum House & Gates (Ironwork), 400 Government Street, Mobile, Mobile County, AL

2. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

2. Historic American Buildings Survey E. W. Russell, Photographer, September 4, 1936 BALUSTRADE ON FRONT, M. S. BROWN HOME - 108 SOUTH CONCEPTION STREET - Milton S. Brown House, 108 South Conception Street, Mobile, Mobile County, AL

7. Historic American Buildings Survey E. W. Russell, Photographer, April ...

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

7. Historic American Buildings Survey E. W. Russell, Photographer, April 19, 1937 REPRODUCTION OF INTERIOR OF CHRIST CHURCH INTERIOR PRIOR TO STORM OF 1909 - Christ Episcopal Church, Church & Saint Emanuel Streets, Mobile, Mobile County, AL

5. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

5. Historic American Buildings Survey E. W. Russell, Photographer, June 17, 1937 CLOSEUP OF THE LOWER SECTION OF FIRST STORY WINDOW ON FRONT, SHOWING SHUTTER AND HINGE. - Wewoka, Riser Mill Road, Sylacauga, Talladega County, AL

13. Historic American Buildings Survey E. W. Russell, Photographer, October ...

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

13. Historic American Buildings Survey E. W. Russell, Photographer, October 5, 1936 DOORS BETWEEN FRONT AND REAR ROOMS, EAST SIDE OF HOUSE - J. J. McMahon House, 456 Saint Francis Street, Mobile, Mobile County, AL

16. Historic American Buildings Survey E. W. Russell, Photographer, October ...

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

16. Historic American Buildings Survey E. W. Russell, Photographer, October 6, 1936 FIREPLACE WITH RAISED BRICK HEARTH, W. WALL OF ATTIC ROOM - J. J. McMahon House, 456 Saint Francis Street, Mobile, Mobile County, AL

30. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

30. Historic American Buildings Survey E. W. Russell, Photographer, May 8, 1936 STAIR IN HALL TOWARDS REAR, W. EXTENSION, 1st FLOOR - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

18. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

18. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 VIEW OF PORTICO COLUMNS LOOKING N. E., 1st FLOOR - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

HEADSTONE OF MEDAL OF HONOR RECIPIENT CHARLES L. RUSSELL, SECTION ...

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

HEADSTONE OF MEDAL OF HONOR RECIPIENT CHARLES L. RUSSELL, SECTION 3-E, GRAVE R1. VIEW TO NORTH. - Hot Springs National Cemetery, Virginia Medical Center 500 North Fifth Street, Hot Springs, Fall River County, SD

5. Historic American Buildings Survey E. W. Russell, Photographer, February ...

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

5. Historic American Buildings Survey E. W. Russell, Photographer, February 28, 1935 REAR VIEW OF MAIN BLDG. S.W. (REAR FACES S.) - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

3. Historic American Buildings Survey Russell Jones, Photographer June 1963NORTHWEST ...

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

3. Historic American Buildings Survey Russell Jones, Photographer June 1963NORTHWEST VIEW - Abner Cloud House, Intersection of Canal Road & Reservoir Road Northwest, Washington, District of Columbia, DC

Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.

PubMed

Frouin, Eric; Laugel, Vincent; Durand, Myriam; Dollfus, Hélène; Lipsker, Dan

2013-12-01

Cockayne syndrome (CS) and cerebro-oculo-facial-skeletal (COFS) syndrome are autosomal recessive diseases that belong to the family of nucleotide excision repair disorders. Our aim was to describe the cutaneous phenotype of patients with these rare diseases. A systematic dermatologic examination of 16 patients included in a European study of CS was performed. The patients were aged 1 to 28 years. Six patients (38%) had mutations in the Cockayne syndrome A (CSA) gene, and the remaining had Cockayne syndrome B (CSB) gene mutations. Fourteen patients were classified clinically as having CS and 2 as having COFS syndrome. Photosensitivity was present in 75% of the patients and was characterized by sunburn after brief sun exposure. Six patients developed symptoms after short sun exposure through a windshield. Six patients had pigmented macules on sun-exposed skin, but none developed a skin neoplasm. Twelve patients (75%) displayed cyanotic acral edema of the extremities. Eight patients had nail dystrophies and 7 had hair anomalies. The dermatologic findings of 16 cases of CS and COFS syndrome highlight the high prevalence of photosensitivity and hair and nail disorders. Cyanotic acral edema was present in 75% of our patients, a finding not previously reported in CS.

6. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

6. Historic American Buildings Survey E. W. Russell, Photographer, September 1, 1936 SOUTH (GOV. ST.) ENTRANCE GATE, WILLIAM H. KETCHUM - 400 GOVERNMENT STREET - William H. Ketchum House & Gates (Ironwork), 400 Government Street, Mobile, Mobile County, AL

2. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

2. Historic American Buildings Survey E. W. Russell, Photographer, September 2, 1936 B. P. BESTER - 208 GOVERNMENT STREET, FRONT OF EAST SIDE WING - Daniel Perrin Bestor, Jr., House (Ironwork), 208 Government Street, Mobile, Mobile County, AL

11. Historic American Buildings Survey E. W. Russell, Photographer, August ...

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

11. Historic American Buildings Survey E. W. Russell, Photographer, August 4, 1936 STAIR ON WEST SIDE, VIEW THROUGH DOOR ON W. END OF FRONT PORTICO - Government Street Presbyterian Church, Government & Jackson Streets, Mobile, Mobile County, AL

5. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

5. Historic American Buildings Survey E. W. Russell, Photographer, September 1, 1936 STEP RAILINGS TO SOUTH FRONT, WILLIAM H. KETCHUM - 400 GOVERNMENT STREET - William H. Ketchum House & Gates (Ironwork), 400 Government Street, Mobile, Mobile County, AL

1. Historic American Buildings Survey E. W. Russell, Photographer, Sept. ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, Sept. 2, 1936 B.P. Bester-- 208 Government Street, Front (side) and West Side - Daniel Perrin Bestor, Jr., House (Ironwork), 208 Government Street, Mobile, Mobile County, AL

1. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, September 2, 1936 WINDOWS ON FRONT (SOUTH), J. W. GOLDSBY HOME - 452 GOVERNMENT STREET - J. W. Goldsby House & Iron Fence, 452 Government Street, Mobile, Mobile County, AL

33. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

33. Historic American Buildings Survey E. W. Russell, Photographer, May 26, 1936 E. FRONT ROOM OF W. APARTMENT SHOWING MANTEL AND N. WALL, 4th FLOOR - 67-69 Government Street (Commercial Building), Mobile, Mobile County, AL

19. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

19. Historic American Buildings Survey E. W. Russell, Photographer, May 26, 1936 VIEW IN ATTIC (S. ROOM) SHOWING E. WALL, 4th FLOOR, W. SIDE APARTMENT - 67-69 Government Street (Commercial Building), Mobile, Mobile County, AL

28. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

28. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 INTERIOR VIEW OF MAIN ENTRANCE TO MAIN HALL, 1st FLOOR - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

23. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

23. Historic American Buildings Survey E. W. Russell, Photographer, May 8, 1936 EXTERIOR VIEW OF DOOR IN N. WALL (FRONT) 1st FLOOR - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

27. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

27. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 EXTERIOR VIEW OF REAR DOOR TO MAIN HALLWAY, 1st FLOOR - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

19. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

19. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 SOUTH ELEVATION (REAR) SHOWING ROUND IRON COLUMN AND SQUARE STUCCO COLUMN - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

26. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

26. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 EXTERIOR VIEW OF WINDOW IN REAR S. WALL, 1st FLOOR - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

34. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

34. Historic American Buildings Survey E. W. Russell, Photographer, May 8, 1936 VIEW OF STAIR FROM REAR (SOUTH) OF HALL, 2nd FLOOR - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

Astronaut Russell Schweickart photographed during EVA

NASA Technical Reports Server (NTRS)

1969-01-01

Astronaut Russell L. Schweickart, lunar module pilot, operates a 70mm Hasselblad camera during his extravehicular activity on the fourth day of the Apollo 9 earth-orbital mission. The Command/Service Module and the Lunar Module 3 'Spider' are docked. This view was taken form the Command Module 'Gumdrop'. Schweickart, wearing an Extravehicular Mobility Unit (EMU), is standing in 'golden slippers' on the Lunar Module porch. On his back, partially visible, are a Portable Life Support System (PLSS) and an Oxygen Purge System (OPS).

1. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, September 15, 1936 GATE IN FRONT OF 201 GOVERNMENT STREET - 201 Government Street (Iron Gate), Moved to Spring Hill Avenue & Riviere du Chin Road, Mobile, Mobile County, AL

4. Historic American Buildings Survey E. W. Russell, Photographer, April ...

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

4. Historic American Buildings Survey E. W. Russell, Photographer, April 7, 1936 IRON GATE IN WALL (REAR) SURROUNDING U. S. MARINE HOSPITAL, CONGRESS STREET - U. S. Marine Hospital & Gates, 800 Saint Anthony Street, Mobile, Mobile County, AL

12. Historic American Buildings Survey E. W. Russell, Photographer, October ...

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

12. Historic American Buildings Survey E. W. Russell, Photographer, October 5, 1936 SLIDING DOUBLE DOOR BETWEEN FRONT AND REAR ROOMS, WEST SIDE OF HOUSE - J. J. McMahon House, 456 Saint Francis Street, Mobile, Mobile County, AL

33. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

33. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 VIEW OF STAIR FROM 2nd STORY HALL, W. END OF BUILDING - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

14. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

14. Historic American Buildings Survey E. W. Russell, Photographer, May 8, 1936 GENERAL VIEW OF S. ELEVATION (REAR) FROM 3rd STORY REAR PORCH - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

Silver Nanoscale Hexagonal Column Chips for Detecting Cell-free DNA and Circulating Nucleosomes in Cancer Patients.

PubMed

Ito, Hiroaki; Hasegawa, Katsuyuki; Hasegawa, Yuuki; Nishimaki, Tadashi; Hosomichi, Kazuyoshi; Kimura, Satoshi; Ohba, Motoi; Yao, Hiroshi; Onimaru, Manabu; Inoue, Ituro; Inoue, Haruhiro

2015-05-21

Blood tests, which are commonly used for cancer screening, generally have low sensitivity. Here, we developed a novel rapid and simple method to generate silver nanoscale hexagonal columns (NHCs) for use in surface-enhanced Raman scattering (SERS). We reported that the intensity of SERS spectra of clinical serum samples obtained from gastrointestinal cancer patients is was significantly higher than that of SERS spectra of clinical serum samples obtained from non-cancer patients. We estimated the combined constituents on silver NHCs by using a field emission-type scanning electron microscope, Raman microscopes, and a 3D laser scanning confocal microscope. We obtained the Raman scattering spectra of samples of physically fractured cells and clinical serum. No spectra were obtained for chemically lysed cultured cells and DNA, RNA, and protein extracted from cultured cells. We believe that our method, which uses SERS with silver NHCs to detect circulating nucleosomes bound by methylated cell-free DNA, may be successfully implemented in blood tests for cancer screening.

8. Historic American Buildings Survey E. W. Russell, Photographer, June ...

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

8. Historic American Buildings Survey E. W. Russell, Photographer, June 19, 1937 OLD KITCHEN & DINING ROOM (EAST OF AND TO THE REAR OF MAIN HOUSE) LOOKING EAST. - Jenkins-Carlton-Autry House, County Road 52, Alpine, Talladega County, AL

37. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

37. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 ROTUNDA, 3rd FLOOR, SHOWING E. HALL BETWEEN ROOMS ON N. AND E. - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

H syndrome: the first 79 patients.

PubMed

Molho-Pessach, Vered; Ramot, Yuval; Camille, Frances; Doviner, Victoria; Babay, Sofia; Luis, Siekavizza Juan; Broshtilova, Valentina; Zlotogorski, Abraham

2014-01-01

H syndrome is an autosomal recessive genodermatosis with multisystem involvement caused by mutations in SLC29A3. We sought to investigate the clinical and molecular findings in 79 patients with this disorder. A total of 79 patients were included, of which 13 are newly reported cases. Because of the phenotypic similarity and molecular overlap with H syndrome, we included 18 patients with allelic disorders. For 31 patients described by others, data were gathered from the medical literature. The most common clinical features (>45% of patients) were hyperpigmentation, phalangeal flexion contractures, hearing loss, and short stature. Insulin-dependent diabetes mellitus and lymphadenopathy mimicking Rosai-Dorfman disease were each found in approximately 20%. Additional systemic features were described in less than 15% of cases. Marked interfamilial and intrafamilial clinical variability exists. Twenty mutations have been identified in SLC29A3, with no genotype-phenotype correlation. In the 31 patients described by others, data were collected from the medical literature. H syndrome is a multisystemic disease with clinical variability. Consequently, all SLC29A3-related diseases should be considered a single entity. Recognition of the pleomorphic nature of H syndrome is important for diagnosis of additional patients. Copyright © 2013 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Craniofacial morphology in patients with velocardiofacial syndrome.

PubMed

Dalben, Gisele da Silva; Richieri-Costa, Antonio; Taveira, Luís Antônio de Assis

2010-05-01

To compare cephalometric measurements of patients with and without velocardiofacial syndrome. Cross-sectional. Public tertiary craniofacial center. Lateral cephalograms of 18 patients with velocardiofacial syndrome and 18 controls without morphofunctional alterations, matched for gender and age; all cephalograms were obtained before orthodontic intervention. The cephalograms were manually traced and digitized for the achievement of linear and angular measurements. Individuals with velocardiofacial syndrome presented a reduced length of the skull base, retrusion of nasal bones, reduced posterior height of the maxilla, increased gonial angle, increased interincisal angle, greater lingual inclination of the mandibular incisors, reduced nasolabial angle, and reduced nasal depth compared with the control group. Patients with velocardiofacial syndrome presented morphological differences compared with individuals without morphofunctional alterations, which might be considered in the evaluation of patients with suspected diagnosis of the syndrome, as well as for the establishment of treatment protocols adequate to their needs. The present findings did not support the hypothesis of differences in pharyngeal dimensions mentioned by other authors, suggesting that the velopharyngeal insufficiency in these patients may be caused by functional alterations rather than by anatomical differences.

Astronaut Russell Schweickart photographed during EVA

NASA Image and Video Library

1969-03-06

AS09-20-3094 (6 March 1969) --- Astronaut Russell L. Schweickart, lunar module pilot, stands in "golden slippers" on the Lunar Module porch during his extravehicular activity on the fourth day of the Apollo 9 Earth-orbital mission. This photograph was taken from inside the Lunar Module "Spider". The Command and Service Modules were docked to the LM. Schweickart is wearing an Extravehicular Mobility Unit (EMU). Inside the "Spider" was astronaut James A. McDivitt, Apollo 9 crew commander. Astronaut David R. Scott, command module pilot, remained at the controls of the Command Module, "Gumdrop."

1. Historic American Buildings Survey E. W. Russell, Photographer, October ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, October 17, 1935 51-69 Government St. BLOCK OF BUILDINGS ON GOVERNMENT ST. (S. SIDE) BETWEEN WATER AND ROYAL STREETS - 51-69 Government Street (Commercial Building), Mobile, Mobile County, AL

2. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

2. Historic American Buildings Survey E. W. Russell, Photographer, September 1, 1936 CLOSE- UP OF SECTION ON FRONT OF PORCH, WILLIAM H. KETCHUM - 400 GOVERNMENT STREET - William H. Ketchum House & Gates (Ironwork), 400 Government Street, Mobile, Mobile County, AL

3. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

3. Historic American Buildings Survey E. W. Russell, Photographer, September 1, 1936 EAST VIEW OF HOUSE, ENTRANCE ON FRANKLIN STREET, WILLIAM H. KETCHUM - 400 GOVERNMENT STREET - William H. Ketchum House & Gates (Ironwork), 400 Government Street, Mobile, Mobile County, AL

7. Historic American Buildings Survey E. W. Russell, Photographer, September ...

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

7. Historic American Buildings Survey E. W. Russell, Photographer, September 2, 1936 GATE TO DRIVE ON FRANKLIN STREET (EAST SIDE), WILLIAM H. KETCHUM - 400 GOVERNMENT STREET - William H. Ketchum House & Gates (Ironwork), 400 Government Street, Mobile, Mobile County, AL

2. Historic American Buildings Survey E. W. Russell, Photographer, April ...

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

2. Historic American Buildings Survey E. W. Russell, Photographer, April 7, 1936 GATE IN FRONT OF U. S. MARINE HOSPITAL TO E. OF MAIN ENTRANCE STEPS - U. S. Marine Hospital & Gates, 800 Saint Anthony Street, Mobile, Mobile County, AL

15. Historic American Buildings Survey E. W. Russell, Photographer, October ...

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

15. Historic American Buildings Survey E. W. Russell, Photographer, October 5, 1936 NORTH WALL OF ATTIC ROOM ON EAST SIDE OF HOUSE, SHOWING REAR DORMER RECESS - J. J. McMahon House, 456 Saint Francis Street, Mobile, Mobile County, AL

17. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

17. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 GENERAL VIEW OF PORTICO (OR ARCADE) LOOKING WEST, 1st FLOOR OF ADMINISTRATION BUILDING - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

ORAL FINDINGS IN PATIENTS WITH APERT SYNDROME

PubMed Central

Dalben, Gisele da Silva; Neves, Lucimara Teixeira das; Gomide, Marcia Ribeiro

2006-01-01

Introduction: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects. Objective: to investigate the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with Apert syndrome. Material and methods: clinical and radiographic examination of nine patients with Apert syndrome, aged 6 to 15 years, not previously submitted to orthodontic or orthognathic treatment. Results: dental anomalies were present in all patients, with one to eight anomalies per individual. The most frequent anomalies were tooth agenesis, mainly affecting maxillary canines, and enamel opacities (44.4% for both). Ectopic eruption of maxillary first molars was found in 33.3% of patients; lateral palatal swellings were observed in 88.8% of patients. Conclusions: The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome. PMID:19089249

6. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

6. Historic American Buildings Survey Russell Jones, Photographer April 1959 ENTRY - Southeast Area Survey, 101 & 122-124 Carroll Street (House), 1008 Potomac Street (House), Canal Street at Independence Avenue (Row House), 1016-1018 Potomac Street (House), Washington, District of Columbia, DC

2. Historic American Buildings Survey E. W. Russell, Photographer, August ...

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

2. Historic American Buildings Survey E. W. Russell, Photographer, August 23, 1936 CLOSE- UP BALUSTRADE SHOWING LOWER PART CORNER STANDARD E. END, FIRST FLOOR. MRS. ALBERT QUIGLEY - 751 GOVERNMENT ST. - Gilmore-Gaines-Quigley House, 751 Government Street, Mobile, Mobile County, AL

2. Historic American Buildings Survey Copied by E. W. Russell, ...

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

2. Historic American Buildings Survey Copied by E. W. Russell, Photographer, August 31, 1936 75TH ANNIVERSARY YEARBOOK (NOT COPYRIGHT) - RUINS OF OLD COLLEGE AFTER FIRE OF 1869 - Spring Hill College, Original Building, Old Shell Road, Spring Hill, Mobile County, AL

6. Historic American Buildings Survey E. W. Russell, Photographer, Feb. ...

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

6. Historic American Buildings Survey E. W. Russell, Photographer, Feb. 12, 1937 VIEW LOOKING UP MAIN DRIVEWAY SHOWING SO. E. (UPPER PORTION) OF BLDG. ALSO WEST ELEV. OF CHURCH. - Convent of the Visitation, 2300 Spring Hill Avenue, Mobile, Mobile County, AL

38. Historic American Buildings Survey E. W. Russell, Photographer, May ...

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

38. Historic American Buildings Survey E. W. Russell, Photographer, May 7, 1936 N. W. SIDE OF ROTUNDA, 3rd FLOOR, SHOWING W. AND N. HALLS AND STAIR OPENING - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

15. Historic American Buildings Survey E. W. Russell, Photographer, March ...

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

15. Historic American Buildings Survey E. W. Russell, Photographer, March 15, 1936 BLINDS ON FRENCH TYPE DOOR OPENING ON W. REAR PORCH, 2nd STORY, N. SIDE APARTMENT - Augustine Ottenstein House, 207-209 North Jackson Street, Mobile, Mobile County, AL

Telling Lewis Hine's Story: Russell Freedman's "Kids at Work."

ERIC Educational Resources Information Center

Zarnowski, Myra

In "Kids at Work," Russell Freedman explores the world of child labor during the years 1908-1918 when Lewis Hine, "teacher-crusader," worked as an investigative photographer for the National Child Labor Committee (NCLC). Hine's writing and the photos he gathered from across the country revealed a "shocking reality that…

Inner ear abnormalities in patients with Goldenhar syndrome.

PubMed

Bisdas, Sotirios; Lenarz, Minoo; Lenarz, Thomas; Becker, Hartmut

2005-05-01

The objective of this study is to investigate the inner ear malformations in patients with Goldenhar syndrome and to hypothesize the potential embryopathogenesis of these malformations. Retrospective case review. Tertiary referral center. Fourteen patients with Goldenhar syndrome. Each patient underwent hearing tests and high-resolution computed tomography (CT) of the temporal bone. In six patients, magnetic resonance imaging of the temporal bone also was performed. Among the 14 patients with Goldenhar syndrome, 13 had outer and middle ear anomalies and 5 (36%) had inner ear malformations, including one case of common cavity. Our observations regarding inner ear anomalies in Goldenhar syndrome correlate with the reported cases in the literature and may help to hypothesize the embryological origin of these malformations, which can caused by an early developmental arrest in the fourth gestational week. Specialists evaluating patients with Goldenhar syndrome should be aware of the possibility of inner ear malformations, which could be diagnosed earlier with appropriate imaging studies.

[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

PubMed

Carcavilla, Atilano; García-Miñaúr, Sixto; Pérez-Aytés, Antonio; Vendrell, Teresa; Pinto, Isabel; Guillén-Navarro, Encarna; González-Meneses, Antonio; Aoki, Yoko; Grinberg, Daniel; Ezquieta, Begoña

2015-01-20

To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). Clinical data from patients submitted for genetic analysis were collected. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused on exons carrying recurrent mutations, and of all KRAS exons were performed. Six different mutations in BRAF were identified in 9 patients, as well as 2 MAP2K1 mutations. Short stature, developmental delay, language difficulties and ectodermal anomalies were more frequent in CFC patients when compared with other neuro-cardio-faciocutaneous syndromes (P<.05). In at least 2 cases molecular testing helped reconsider the diagnosis. CFC patients showed a rather severe phenotype but at least one patient with BRAF mutation showed no developmental delay, which illustrates the variability of the phenotypic spectrum caused by BRAF mutations. Molecular genetic testing is a valuable tool for differential diagnosis of CFC and NS related disorders. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

8. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

8. Historic American Buildings Survey Russell Jones, Photographer April 1959 DETAIL - 124 - Southeast Area Survey, 101 & 122-124 Carroll Street (House), 1008 Potomac Street (House), Canal Street at Independence Avenue (Row House), 1016-1018 Potomac Street (House), Washington, District of Columbia, DC

1. Historic American Buildings Survey E. W. Russell, Photographer, April ...

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

1. Historic American Buildings Survey E. W. Russell, Photographer, April 7, 1936 BALUSTRADE ON 2nd FLOOR PORTICO, U. S. MARINE HOSPITAL, ST. ANTHONY ST. BETWEEN BAYOU AND JEFFERSON STREETS - U. S. Marine Hospital & Gates, 800 Saint Anthony Street, Mobile, Mobile County, AL

3. Historic American Buildings Survey E. W. Russell, Photographer, April ...

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

3. Historic American Buildings Survey E. W. Russell, Photographer, April 7, 1936 SECTION OF IRON FENCE IN FRONT OF U. S. MARINE HOSPITAL, N. SIDE OF ST. ANTHONY ST. - U. S. Marine Hospital & Gates, 800 Saint Anthony Street, Mobile, Mobile County, AL

2. Historic American Buildings Survey Copied by E. W. Russell, ...

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

2. Historic American Buildings Survey Copied by E. W. Russell, Photographer, August 31, 1936 75TH ANNIVERSARY YEARBOOK (NOT COPYRIGHT) - REAR OF BUILDING BEFORE REINFORCED CONCRETE BALCONIES WERE ADDED - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

1. Historic American Buildings Survey Copied by E. W. Russell, ...

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

1. Historic American Buildings Survey Copied by E. W. Russell, Photographer, August 31, 1936 75TH ANNIVERSARY YEARBOOK (NOT COPYRIGHT) - FRONT OF MAIN BUILDING BEFORE CLOISTER ARCADE WAS ADDED - Spring Hill College, Main Building, Old Shell Road, Spring Hill, Mobile County, AL

A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds.

PubMed

Rohdin, Cecilia; Gilliam, Douglas; O'Leary, Caroline A; O'Brien, Dennis P; Coates, Joan R; Johnson, Gary S; Jäderlund, Karin Hultin

2015-05-23

Hereditary ataxias with similar phenotypes were reported in the Smooth-Haired Fox Terrier, the Jack Russell Terrier and the Parson Russell Terrier. However, segregation analyses showed differing inheritance modes in these breeds. Recently, molecular genetic studies on the Russell group of terriers found independent mutations in KCNJ10 and CAPN1, each associated with a specific clinical subtype of inherited ataxia. The aim of this study was to clarify whether or not Smooth-Haired Fox Terriers with hereditary ataxia and dogs of other related breeds harbor either of the same mutations. A sub goal was to update the results of KCNJ10 genotyping in Russell group terriers. Three Smooth-Haired Fox Terriers with hereditary ataxia and two Toy Fox Terriers with a similar phenotype were all homozygous for the KCNJ10 mutation. The same mutation was also found in a heterozygous state in clinically unaffected Tenterfield Terriers (n = 5) and, in agreement with previous studies, in Jack Russell Terriers, Parson Russell Terriers, and Russell Terriers. A KCNJ10 mutation, previously associated with an autosomal recessive spinocerebellar ataxia in Jack Russell Terriers, Parson Russell Terriers, and Russell Terriers segregates in at least three more breeds descended from British hunting terriers. Ataxic members of two of these breeds, the Smooth-Haired Fox Terrier and the Toy Fox Terrier, were homozygous for the mutation, strengthening the likelihood that this genetic defect is indeed the causative mutation for the disease known as "hereditary ataxia" in Fox Terriers and "spinocerebellar ataxia with myokymia, seizures or both" in the Russell group of terriers.

Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

PubMed Central

Al Kaissi, Ali; Zwettler, Elisabeth; Ganger, Rudolf; Schreiner, Simone; Klaushofer, Klaus; Grill, Franz

2013-01-01

Background A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal’s syndrome) and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. Methods In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization. Results Our patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly. Conclusion This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities. PMID:23399831

Celiac disease in patients with Williams-Beuren syndrome.

PubMed

Mıhçı, Ercan; Nur, Banu Güzel; Berker-Karaüzüm, Sibel; Yılmaz, Aygen; Artan, Reha

2015-01-01

Celiac disease is an autoimmune, gastrointestinal disorder characterized by intolerance to the dietary grain protein gluten. An increased prevalence of celiac disease has been reported in Down syndrome and Turner syndrome, but there has been only few previous reports with respect to the association of celiac disease in Williams-Beuren syndrome. The aim of this study was to evaluate the frequency of celiac disease in our 24 Williams-Beuren syndrome patients. Gastrointestinal problems and celiac disease symptoms of patients were noted. All patients were analyzed by the titer of tissue transglutaminases IgA and IgG. HLA genotyping and intestinal biopsy was performed to the patients with positive serology. We also performed gluten free diet in the presence of compatible symptoms, serology, HLA genotyping and intestinal biopsy. In our study, two patients had positive tTG antibodies, but only one had positive biopsy finding for celiac disease. The frequency of celiac disease in patients with Williams-Beuren syndrome was estimated as 1/24 (4.1%). Though the number of participants in this study was limited, the results show that the frequency of celiac disease is higher in Williams-Beuren syndrome compared to the general population. We suggest that a high suspicion and testing for celiac disease should be recommended at certain intervals in all cases with Williams-Beuren syndrome to detect the cause of growth retardation and gastrointestinal problems.

3. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

3. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (EAST) ELEVATION - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

19. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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19. Historic American Buildings Survey Russell Jones, Photographer April 1959 WINDOW DETAIL - 132 - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

12. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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12. Historic American Buildings Survey Russell Jones, Photographer April 1959 ENTRANCE DETAIL - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

4. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

4. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (SOUTH) ELEVATION - Southeast Area Survey, 600-602 & 1100 G Street (House), 1002,1006 Eye Street (House), 808-810,812-814, & 1016 K Street (House), 817-819 L Street (House), Washington, District of Columbia, DC

8. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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8. Historic American Buildings Survey Russell Jones, Photographer April 1959 ENTRANCE, 318 - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

5. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

5. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (EAST) ELEVATION - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

10. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

10. Historic American Buildings Survey Russell Jones, Photographer April 1959 GENERAL VIEW FROM THE SOUTH - Southeast Area Survey, 101 & 122-124 Carroll Street (House), 1008 Potomac Street (House), Canal Street at Independence Avenue (Row House), 1016-1018 Potomac Street (House), Washington, District of Columbia, DC

4. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

4. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (WEST) ELEVATION - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

17. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

17. Historic American Buildings Survey Russell Jones, Photographer April 1959 UNIT AT 132 - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

7. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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7. Historic American Buildings Survey Russell Jones, Photographer April 1959 ENTRANCE, 316 - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

2. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

2. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (EAST) ELEVATION - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

14. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

14. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (WEST) ELEVATION - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

5. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

5. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (SOUTH) ELEVATION - Southeast Area Survey, 600-602 & 1100 G Street (House), 1002,1006 Eye Street (House), 808-810,812-814, & 1016 K Street (House), 817-819 L Street (House), Washington, District of Columbia, DC

3. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

3. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (NORTH) ELEVATION - Southeast Area Survey, 600-602 & 1100 G Street (House), 1002,1006 Eye Street (House), 808-810,812-814, & 1016 K Street (House), 817-819 L Street (House), Washington, District of Columbia, DC

9. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

9. Historic American Buildings Survey Russell Jones, Photographer April 1959 GENERAL VIEW FROM THE EAST - Southeast Area Survey, 101 & 122-124 Carroll Street (House), 1008 Potomac Street (House), Canal Street at Independence Avenue (Row House), 1016-1018 Potomac Street (House), Washington, District of Columbia, DC

1. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

1. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (WEST) ELEVATION - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

4. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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4. Historic American Buildings Survey Russell Jones, Photographer April 1959 DETAIL - ONE UNIT OF GROUP - Southeast Area Survey, 101 & 122-124 Carroll Street (House), 1008 Potomac Street (House), Canal Street at Independence Avenue (Row House), 1016-1018 Potomac Street (House), Washington, District of Columbia, DC

2. Historic American Buildings Survey E. W. Russell, Photographer, April ...

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2. Historic American Buildings Survey E. W. Russell, Photographer, April 2, 1935 OLD MESS HALL AND BARRACKS E. SIDE OF BOTH BLDGS. N. END OF MESS HALL - Mount Vernon Arsenal, Old Barracks Building, Old Saint Stephens Road (County Road 96), Mount Vernon, Mobile County, AL

1. Historic American Buildings Survey E. W. Russell, Photographer, April ...

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1. Historic American Buildings Survey E. W. Russell, Photographer, April 2, 1935 N. AND W. SIDE OF BLDG. USED AS MESS HALL E. OF BARRACK BLDG. - Mount Vernon Arsenal, Old Mess Hall, Old Saint Stephens Road (County Road 96), Mount Vernon, Mobile County, AL

Optimization of silver-dielectric-silver nanoshell for sensing applications

DOE Office of Scientific and Technical Information (OSTI.GOV)

Shirzaditabar, Farzad; Saliminasab, Maryam

2013-08-15

In this paper, resonance light scattering (RLS) properties of a silver-dielectric-silver nanoshell, based on quasi-static approach and plasmon hybridization theory, are investigated. Scattering spectrum of silver-dielectric-silver nanoshell has two intense and clearly separated RLS peaks and provides a potential for biosensing based on surface plasmon resonance and surface-enhanced Raman scattering. The two RLS peaks in silver-dielectric-silver nanoshell are optimized by tuning the geometrical dimensions. In addition, the optimal geometry is discussed to obtain the high sensitivity of silver-dielectric-silver nanoshell. As the silver core radius increases, the sensitivity of silver-dielectric-silver nanoshell decreases whereas increasing the middle dielectric thickness increases the sensitivitymore » of silver-dielectric-silver nanoshell.« less

Myokymia and neuromyotonia in veterinary medicine: a comparison with peripheral nerve hyperexcitability syndrome in humans.

PubMed

Vanhaesebrouck, An E; Bhatti, Sofie F M; Franklin, Robin J M; Van Ham, Luc

2013-08-01

Involuntary muscle hyperactivity can result from muscle or peripheral nerve hyperexcitability or central nervous system dysfunction. In humans, diseases causing hyperexcitability of peripheral nerves are grouped together under the term 'peripheral nerve hyperexcitability' (PNH). Hyperexcitability of the peripheral motor nerve can result into five different phenotypic main variants, i.e. fasciculations, myokymia, neuromyotonia, cramps and tetany, each with their own clinical and electromyographic characteristics. This review focuses on the most commonly described expressions of PNH in veterinary medicine, i.e. myokymia and neuromyotonia, in particular in young Jack Russell terriers. Data from 58 veterinary cases with generalized myokymia and neuromyotonia were analyzed, including unpublished treatment and follow-up data on eight Jack Russell terriers from a previous study and seven additional Jack Russell terriers. A dysfunction of the potassium channel or its associated proteins has been found in many human syndromes characterized by PNH, in particular in generalized myokymia and neuromyotonia, and is suspected to occur in veterinary medicine. Potential pathomechanisms of potassium channel dysfunction leading to signs of PNH are broad and include genetic mutations, antibody-mediated attack or ion channel maldistribution due to axonal degeneration or demyelination. A more accurate classification of the different PNH syndromes will facilitate a more rapid diagnosis and guide further research into natural occurring PNH in animals. Copyright © 2013 Elsevier Ltd. All rights reserved.

Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient.

PubMed

Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, João J

2015-01-01

Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient's symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient

PubMed Central

Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, João J.

2015-01-01

Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient's symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients. PMID:26101683

5. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

5. Historic American Buildings Survey Russell Jones, Photographer April 1959 WEST END OF GROUP FROM THE NORTH - Southeast Area Survey, 101 & 122-124 Carroll Street (House), 1008 Potomac Street (House), Canal Street at Independence Avenue (Row House), 1016-1018 Potomac Street (House), Washington, District of Columbia, DC

18. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

18. Historic American Buildings Survey Russell Jones, Photographer April 1959 ENTRANCE, 132 (LEFT) 134 (RIGHT) - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

7. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

7. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT ELEVATION - 122 (LEFT) 124 (RIGHT) - Southeast Area Survey, 101 & 122-124 Carroll Street (House), 1008 Potomac Street (House), Canal Street at Independence Avenue (Row House), 1016-1018 Potomac Street (House), Washington, District of Columbia, DC

1. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

1. Historic American Buildings Survey Russell Jones, Photographer April 1959 EAST END OF GROUP FROM THE NORTH - Southeast Area Survey, 101 & 122-124 Carroll Street (House), 1008 Potomac Street (House), Canal Street at Independence Avenue (Row House), 1016-1018 Potomac Street (House), Washington, District of Columbia, DC

[metabonomics research on coronary heart disease patients of phlegm turbidity syndrome and qi deficiency syndrome].

PubMed

Cheng, Peng; Chen, Ze-qi; Wang, Dong-sheng

2015-02-01

To study the correlation between Chinese medical types of coronary heart disease (CHD) [i.e., phlegm turbidity syndrome (PTS) and qi deficiency syndrome (QDS)] and their metabolites. Recruited were 65 CHD patients including 37 cases of PTS and 28 cases of QDS. Serum endogenous metabolites in the two syndrome types were determined by gas chromatograph-mass spectrometer-computer (GC/MS), and their differences between their metabolic profiles analyzed. More than 100 chromatographic peaks were totally scanned. Chromatograms obtained was matched with mass spectrum bank, and finally we got the category contribution value of 46 kinds of substances. Results of MCTree analysis showed patients of PTS and patients of QDS could be effectively distinguished. Compounds contributing to identify the two syndromes were sequenced as serine, valine, 2 hydroxy propionic acid. Comparison of metabolites showed contents of serine and 2 hydroxy propionic acid were higher in patients of PTS than in patients of QDS (P<0.05). The differences in the metabonomics of CHD TCM syndrome types could provide material bases for TCM syndrome differentiation of CHD, indicating that metabonomics technologies might become a new research method for TCM syndrome typing.

Russell and Burch's 3Rs Then and Now: The Need for Clarity in Definition and Purpose

PubMed Central

Tannenbaum, Jerrold; Bennett, B Taylor

2015-01-01

Russell and Burch's The Principles of Humane Experimental Technique was first published in 1959. A Special Edition containing the original text was reissued in 1992, after its ideas had gained widespread interest in the scientific community. In the Principles, Russell and Burch proposed a new applied science that would improve the treatment of laboratory animals while advancing the quality of science in studies that use animals. They introduced and defined the terms replacement, reduction, and refinement, which subsequently have become known as ‘alternatives’ or ‘alternative methods’ for minimizing the potential for animal pain and distress in biomedical research. Here we describe and explain the original definitions of the 3Rs in the Principles, examine how current definitions differ among themselves and from Russell and Burch's definitions, and suggest relevant considerations for evaluating all definitions of the 3Rs. PMID:25836957

Russell and Burch's 3Rs then and now: the need for clarity in definition and purpose.

PubMed

Tannenbaum, Jerrold; Bennett, B Taylor

2015-03-01

Russell and Burch's The Principles of Humane Experimental Technique was first published in 1959. A Special Edition containing the original text was reissued in 1992, after its ideas had gained widespread interest in the scientific community. In the Principles, Russell and Burch proposed a new applied science that would improve the treatment of laboratory animals while advancing the quality of science in studies that use animals. They introduced and defined the terms replacement, reduction, and refinement, which subsequently have become known as 'alternatives' or 'alternative methods' for minimizing the potential for animal pain and distress in biomedical research. Here we describe and explain the original definitions of the 3Rs in the Principles, examine how current definitions differ among themselves and from Russell and Burch's definitions, and suggest relevant considerations for evaluating all definitions of the 3Rs.

[A patient with Noonan syndrome].

PubMed

Bins, A; Gortzak, R A Th

2013-12-01

Noonan syndrome is a relatively common autosomal dominant genetic disorder which is characterised by typical facial features, congenital heart diseases and small stature. In 50% of the cases the syndrome is caused by a mutation on the PTPN11-gen. The expression of symptoms associated with Noonan syndrome can be very mild in nature and facial features usually become less pronounced with age, which can sometimes make a correct diagnosis more difficult. Despite a wide range of associated symptoms most adults with Noonan syndrome can be self-sustaining, with a good quality of life. It is important that the dentist is well-informed about this syndrome due to the heart diseases and bleeding disorders which can be present with these patients and may influence a dentist's choice of therapy when invasive treatment is indicated.

1. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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1. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (SOUTH) ELEVATION. 600 (LEFT) 602 (RIGHT) - Southeast Area Survey, 600-602 & 1100 G Street (House), 1002,1006 Eye Street (House), 808-810,812-814, & 1016 K Street (House), 817-819 L Street (House), Washington, District of Columbia, DC

13. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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13. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (EAST) ELEVATION. 1105 (LEFT) 1103 (RIGHT) - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

6. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

6. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (SOUTH) ELEVATION 808 (LEFT) 810 (RIGHT) - Southeast Area Survey, 600-602 & 1100 G Street (House), 1002,1006 Eye Street (House), 808-810,812-814, & 1016 K Street (House), 817-819 L Street (House), Washington, District of Columbia, DC

3. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

3. Historic American Buildings Survey Russell Jones, Photographer April 1959 WEST CENTER SECTION OF GROUP FROM THE NORTH - Southeast Area Survey, 101 & 122-124 Carroll Street (House), 1008 Potomac Street (House), Canal Street at Independence Avenue (Row House), 1016-1018 Potomac Street (House), Washington, District of Columbia, DC

11. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

11. Historic American Buildings Survey Russell Jones, Photographer April 1959 GENERAL VIEW FROM THE EAST. 1016 and 1018. - Southeast Area Survey, 101 & 122-124 Carroll Street (House), 1008 Potomac Street (House), Canal Street at Independence Avenue (Row House), 1016-1018 Potomac Street (House), Washington, District of Columbia, DC

9. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

9. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (WEST) ELEVATION FROM THE N.W. - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

16. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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16. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (WEST) ELEVATION (132 ON THE LEFT) - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

15. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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15. Historic American Buildings Survey Russell Jones, Photographer April 1959 REAR (EAST) AND LEFT (NORTH) ELEVATIONS - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

10. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

10. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (NORTH) ELEVATION. 819 (LEFT) 817 (RIGHT) - Southeast Area Survey, 600-602 & 1100 G Street (House), 1002,1006 Eye Street (House), 808-810,812-814, & 1016 K Street (House), 817-819 L Street (House), Washington, District of Columbia, DC

6. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

6. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (WEST) ELEVATION (316 AT THE LEFT) - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

2. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

2. Historic American Buildings Survey Russell Jones, Photographer April 1959 EAST CENTER SECTION OF GROUP FROM THE NORTH - Southeast Area Survey, 101 & 122-124 Carroll Street (House), 1008 Potomac Street (House), Canal Street at Independence Avenue (Row House), 1016-1018 Potomac Street (House), Washington, District of Columbia, DC

2. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

2. Historic American Buildings Survey Russell Jones, Photographer April 1959 REAR (NORTH) ELEVATION FROM THE N. W. - Southeast Area Survey, 600-602 & 1100 G Street (House), 1002,1006 Eye Street (House), 808-810,812-814, & 1016 K Street (House), 817-819 L Street (House), Washington, District of Columbia, DC

20. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

20. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (WEST) ELEVATION FROM THE N. W. - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

22. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

22. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (EAST) ELEVATION FROM THE S. E. - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

21. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

21. Historic American Buildings Survey Russell Jones, Photographer April 1959 REAR (EAST) ELEVATION FROM THE N. E. - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

Frailty syndrome in patients with heart rhythm disorders.

PubMed

Mlynarska, Agnieszka; Mlynarski, Rafal; Golba, Krzysztof S

2017-09-01

To assess the prevalence of frailty syndrome in patients with heart rhythm disorders that qualified for pacemaker implantation. The study included 171 patients (83 women, aged 73.9 ± 6.7 years) who qualified for pacemaker implantation as a result of sinus node dysfunction (81 patients) or atrio-ventricular blocks (AVB; 90 patients). A total of 60 patients (25 women, aged 72.40 ± 7.09 years) without heart rhythm disorders were included in the control group. Frailty syndrome was diagnosed using the Canadian Study of Health and Aging Clinical Frailty Scale test. Frailty syndrome was diagnosed in 25.15% of the patients, and pre-frailty in 36.84% of the patients. Frailty syndrome was diagnosed in 10% of the control group, and the average value of frailty was 3.35 ± 0.92. Frailty occurred significantly more often among patients with AVB (33.34%) compared with patients who were diagnosed with sinus node dysfunction (16.05%); P = 0.0081. The average score of frailty for sinus node dysfunction was 3.71 ± 0.89, and for AVB it was 4.14 ± 0.93; P = 0.0152. In the case of AVB, the women had a statistically more intense level of frailty of 4.54 ± 0.90 as compared with the men 3.87 ± 0.85; P = 0.0294. In the multiple logistic analysis, the presence of any arrhythmia was strongly associated with frailty syndrome (OR 2.1286, 95% CI 1.4594 - 3.1049; P = 0.0001). Frailty syndrome was diagnosed in one-quarter of patients with cardiac arrhythmias, whereas a further 40% were at a higher risk of frailty syndrome, and its occurrence was significantly higher if compared with the control group. Frailty occurred significantly more often among patients with atrio-ventricular blocks, especially in women. The results of the present research showed that there is a statistical association between frailty and arrhythmias. Geriatr Gerontol Int 2017; 17: 1313-1318. © 2016 Japan Geriatrics Society.

Femur Neck Fracture in a Young Marfan Syndrome Patient.

PubMed

Kwon, Yong-Uk; Kong, Gyu-Min; Park, Jun-Ho

2016-12-01

Marfan syndrome is an autosomal dominant and could decrease bone mineral density. So patients with Marfan syndrome could vulnerable to trauma in old ages. We present the first report, to the best of our knowledge, of a rare fracture of the femoral neck with a minor traumatic history in a juvenile Marfan syndrome patient whose physis is still open. Although the patient is young, her bone mineral density was low and the geometry of femur is changed like old ages. The femur neck fracture in children is very rare and only caused by high energy trauma, we concluded that the Marfan syndrome makes the bone weaker in young age and preventative medications to avoid fractures in younger Marfan syndrome patients are necessary in early ages.

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

PubMed Central

Eggermann, Katja; Bliek, Jet; Brioude, Frédéric; Algar, Elizabeth; Buiting, Karin; Russo, Silvia; Tümer, Zeynep; Monk, David; Moore, Gudrun; Antoniadi, Thalia; Macdonald, Fiona; Netchine, Irène; Lombardi, Paolo; Soellner, Lukas; Begemann, Matthias; Prawitt, Dirk; Maher, Eamonn R; Mannens, Marcel; Riccio, Andrea; Weksberg, Rosanna; Lapunzina, Pablo; Grønskov, Karen; Mackay, Deborah JG; Eggermann, Thomas

2016-01-01

Molecular genetic testing for the 11p15-associated imprinting disorders Silver–Russell and Beckwith–Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. With the growing knowledge on the molecular basis of these disorders and the demand for molecular testing, it turned out that there is an urgent need for a standardized molecular diagnostic testing and reporting strategy. Based on the results from the first external pilot quality assessment schemes organized by the European Molecular Quality Network (EMQN) in 2014 and in context with activities of the European Network of Imprinting Disorders (EUCID.net) towards a consensus in diagnostics and management of SRS and BWS, best practice guidelines have now been developed. Members of institutions working in the field of SRS and BWS diagnostics were invited to comment, and in the light of their feedback amendments were made. The final document was ratified in the course of an EMQN best practice guideline meeting and is in accordance with the general SRS and BWS consensus guidelines, which are in preparation. These guidelines are based on the knowledge acquired from peer-reviewed and published data, as well as observations of the authors in their practice. However, these guidelines can only provide a snapshot of current knowledge at the time of manuscript submission and readers are advised to keep up with the literature. PMID:27165005

10. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

10. Historic American Buildings Survey Russell Jones, Photographer April 1959 REAR(EAST) & LEFT ELEVATIONS FROM THE N. E. - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

11. Historic American Buildings Survey Russell Jones, Photographer April 1959 ...

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

11. Historic American Buildings Survey Russell Jones, Photographer April 1959 FRONT (7th STREET) ELEVATION FRON THE SOUTH EAST - Southeast Area Survey, Sixth & G Streets (Synagogue), 132-144 & 900-905 Eleventh Street (Row Houses), 215 Second Street (House), Seventh & G Streets (School), 214 First Street (House), Washington, District of Columbia, DC

3. Historic American Buildings Survey E. W. Russell, Photographer, April ...

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

3. Historic American Buildings Survey E. W. Russell, Photographer, April 2, 1937 VIEW LOOKING S.W. SHOWING N.W. CORNER OF SECTION 'D' & 'E' ON THE RIGHT & NORTH ELEV. OF SMALL BUILDING WITH HALF OCTAGONAL BAYS ON LEFT. - Convent of the Visitation, 2300 Spring Hill Avenue, Mobile, Mobile County, AL

Three patients with hemophagocytic syndrome who developed acute organic brain syndrome.

PubMed

Shinno, Hideto; Hikasa, Satoshi; Matsuoka, Tatsuo; Fujita, Hidekazu; Yamamoto, Osamu; Takebayashi, Minoru; Uchida, Youzou; Nishiura, Tetsuo; Horiguchi, Jun

2006-01-01

We describe three patients with hemophagocytic syndrome (HPS) who developed acute organic brain syndrome. All three presented with high-grade fever and twilight state, and were admitted to our hospital. After admission, delirium developed in all three. As delirium improved, various other psychiatric symptoms, including hallucinations, agitation, hypoactivity, affective lability and insomnia, were noted. When treated with steroid hormones, immunoglobulin and neuroleptics, all patients demonstrated improvement in their psychiatric symptoms, as well as in their general condition and laboratory findings. Ultimately, they all recovered and were discharged. It needs to be noted that organic brain syndrome might be observed at the onset of HPS. Consequently, early diagnosis and treatment for psychiatric symptoms, as well as for HPS, are crucial.

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.

PubMed

van Rij, M C; Grijsen, M L; Appelman-Dijkstra, N M; Hansson, K B M; Ruivenkamp, C A L; Mulder, K; van Doorn, R; Oranje, A P; Kant, S G

2017-02-01

We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and skeletal abnormalities (COPS) syndrome. At the age of 35, he was diagnosed with Hodgkin's lymphoma. Recently, biallelic pathogenic variants in the RECQL4 gene were detected (c.1048_1049delAG and c.1391-1G>A), confirming a diagnosis of Rothmund-Thomson syndrome (RTS). In the brother of this patient, who had a milder phenotype, a similar diagnosis was made. We conclude that COPS syndrome never existed as a separate syndrome entity. Instead, osteoma cutis may be regarded as a novel feature of RTS, whereas mild intellectual disability and lymphoma may be underreported parts of the phenotype. What is new: • Osteoma cutis was not a known feature in Rothmund-Thomson patients. • Intellectual disability may be considered a rare feature in RTS; more study is needed. What is known: • RTS is a well-described syndrome caused by mutations in the RECQL4 gene. • Patients with RTS frequently show chromosomal abnormalities like, e.g. mosaic trisomy 8.

Silver(II) Oxide or Silver(I,III) Oxide?

ERIC Educational Resources Information Center

Tudela, David

2008-01-01

The often called silver peroxide and silver(II) oxide, AgO or Ag[subscript 2]O[subscript 2], is actually a mixed oxidation state silver(I,III) oxide. A thermochemical cycle, with lattice energies calculated within the "volume-based" thermodynamic approach, explain why the silver(I,III) oxide is more stable than the hypothetical silver(II) oxide.…

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

ClinicalTrials.gov

2017-09-28

Rare Disorders; Undiagnosed Disorders; Disorders of Unknown Prevalence; Cornelia De Lange Syndrome; Prenatal Benign Hypophosphatasia; Perinatal Lethal Hypophosphatasia; Odontohypophosphatasia; Adult Hypophosphatasia; Childhood-onset Hypophosphatasia; Infantile Hypophosphatasia; Hypophosphatasia; Kabuki Syndrome; Bohring-Opitz Syndrome; Narcolepsy Without Cataplexy; Narcolepsy-cataplexy; Hypersomnolence Disorder; Idiopathic Hypersomnia Without Long Sleep Time; Idiopathic Hypersomnia With Long Sleep Time; Idiopathic Hypersomnia; Kleine-Levin Syndrome; Kawasaki Disease; Leiomyosarcoma; Leiomyosarcoma of the Corpus Uteri; Leiomyosarcoma of the Cervix Uteri; Leiomyosarcoma of Small Intestine; Acquired Myasthenia Gravis; Addison Disease; Hyperacusis (Hyperacousis); Juvenile Myasthenia Gravis; Transient Neonatal Myasthenia Gravis; Williams Syndrome; Lyme Disease; Myasthenia Gravis; Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome); Isolated Klippel-Feil Syndrome; Frasier Syndrome; Denys-Drash Syndrome; Beckwith-Wiedemann Syndrome; Emanuel Syndrome; Isolated Aniridia; Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11; Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15; Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/Inversion; Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication; Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion; Axenfeld-Rieger Syndrome; Aniridia-intellectual Disability Syndrome; Aniridia - Renal Agenesis - Psychomotor Retardation; Aniridia - Ptosis - Intellectual Disability - Familial Obesity; Aniridia - Cerebellar Ataxia - Intellectual Disability; Aniridia - Absent Patella; Aniridia; Peters Anomaly - Cataract; Peters Anomaly; Potocki-Shaffer Syndrome; Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11; Silver-Russell Syndrome Due to Imprinting Defect of 11p15; Silver-Russell Syndrome Due to 11p15 Microduplication; Syndromic Aniridia; WAGR Syndrome; Wolf

Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.

PubMed

Bonanni, Paolo; Casellato, Susanna; Fabbro, Franco; Negrin, Susanna

2017-10-01

Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope. Duration of the seizures could be brief or lengthy. Interictal EEGs revealed functional multifocal abnormalities. The evolution was benign in all patients with seizures remission before the age of 14. This observation expands the spectrum of benign epileptic phenotypes present in Fragile-X-syndrome and may be quite helpful in guiding anticonvulsant management and counseling families as to expectations regarding seizure remission. © 2017 Wiley Periodicals, Inc.

Patient with confirmed LEOPARD syndrome developing multiple melanoma

PubMed Central

Colmant, Caroline; Franck, Deborah; Marot, Liliane; Matthijs, Gert; Sznajer, Yves; Blomme, Sandrine

2018-01-01

LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D). This condition is identified in 85% of patients with phenotype hallmarks caused by presence a germline point mutation in PTPN11 gene. Association of melanoma to NSML seems to be rare: to our knowledge, two patients so far were reported in the literature. We herein present a patient diagnosed with LEOPARD syndrome, in whom molecular investigation confirmed the presence of the c.1403C>T mutation in exon 12 of the PTPN11 gene, who developed four superficial spreading melanomas and three atypical lentiginous hyperplasias. Three of the melanomas were achromic or hypochromic, three were in situ, and one had a Breslow index under 0.5 mm. Dermoscopic examination showed some characteristic white structures in most of the lesions, which were a signature pattern and a key for the diagnosis. PMID:29445579

Patient with confirmed LEOPARD syndrome developing multiple melanoma.

PubMed

Colmant, Caroline; Franck, Deborah; Marot, Liliane; Matthijs, Gert; Sznajer, Yves; Blomme, Sandrine; Tromme, Isabelle

2018-01-01

LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D). This condition is identified in 85% of patients with phenotype hallmarks caused by presence a germline point mutation in PTPN11 gene. Association of melanoma to NSML seems to be rare: to our knowledge, two patients so far were reported in the literature. We herein present a patient diagnosed with LEOPARD syndrome, in whom molecular investigation confirmed the presence of the c.1403C>T mutation in exon 12 of the PTPN11 gene, who developed four superficial spreading melanomas and three atypical lentiginous hyperplasias. Three of the melanomas were achromic or hypochromic, three were in situ, and one had a Breslow index under 0.5 mm. Dermoscopic examination showed some characteristic white structures in most of the lesions, which were a signature pattern and a key for the diagnosis.

Myxedema coma in a patient with Down's syndrome.

PubMed

Bansal, Darpan; Nanda, Ashish; Gupta, Ekta; Croker, Mary; Williams, Misty L; Bacchus, Amy; Simmons, Debra; Erbland, Marcia

2006-11-01

hyroid dysfunction is common in Down's syndrome, most common being hypothyroidism. Longstanding, untreated hypothyroidism can lead to myxedema coma. Here we report a patient with Down's syndrome who presented with myxedema coma. The three essential elements for the diagnosis of myxedema coma include altered mental status, defective thermoregulation and a precipitating event or illness; all of these were present in our patient. Also, very high TSH, low T3 and T4, and the rapid response to the treatment with levothyroxine confirmed the diagnosis. Patients with Down's syndrome should have regular screening for thyroid dysfunction.

Biochemical nature of Russell Bodies.

PubMed

Mossuto, Maria Francesca; Ami, Diletta; Anelli, Tiziana; Fagioli, Claudio; Doglia, Silvia Maria; Sitia, Roberto

2015-07-30

Professional secretory cells produce and release abundant proteins. Particularly in case of mutations and/or insufficient chaperoning, these can aggregate and become toxic within or amongst cells. Immunoglobulins (Ig) are no exception. In the extracellular space, certain Ig-L chains form fibrils causing systemic amyloidosis. On the other hand, Ig variants lacking the first constant domain condense in dilated cisternae of the early secretory compartment, called Russell Bodies (RB), frequently observed in plasma cell dyscrasias, autoimmune diseases and chronic infections. RB biogenesis can be recapitulated in lymphoid and non-lymphoid cells by expressing mutant Ig-μ, providing powerful models to investigate the pathophysiology of endoplasmic reticulum storage disorders. Here we analyze the aggregation propensity and the biochemical features of the intra- and extra-cellular Ig deposits in human cells, revealing β-aggregated features for RB.

Woods and Russell, Hill, and the emergence of medical statistics

PubMed Central

Farewell, Vern; Johnson, Tony

2010-01-01

In 1937, Austin Bradford Hill wrote Principles of Medical Statistics (Lancet: London, 1937) that became renowned throughout the world and is widely associated with the birth of modern medical statistics. Some 6 years earlier Hilda Mary Woods and William Thomas Russell, colleagues of Hill at the London School of Hygiene and Tropical Medicine, wrote a similar book An Introduction to Medical Statistics (PS King and Son: London, 1931) that is little known today. We trace the origins of these two books from the foundations of early demography and vital statistics, and make a detailed examination of some of their chapters. It is clear that these texts mark a watershed in the history of medical statistics that demarcates the vital statistics of the nineteenth and early twentieth centuries from the modern discipline. Moreover, we consider that the book by Woods and Russell is of some importance in the development of medical statistics and we describe and acknowledge their place in the history of this discipline. Copyright © 2010 John Wiley & Sons, Ltd. PMID:20535761

Woods and Russell, Hill, and the emergence of medical statistics.

PubMed

Farewell, Vern; Johnson, Tony

2010-06-30

In 1937, Austin Bradford Hill wrote Principles of Medical Statistics (Lancet: London, 1937) that became renowned throughout the world and is widely associated with the birth of modern medical statistics. Some 6 years earlier Hilda Mary Woods and William Thomas Russell, colleagues of Hill at the London School of Hygiene and Tropical Medicine, wrote a similar book An Introduction to Medical Statistics (PS King and Son: London, 1931) that is little known today. We trace the origins of these two books from the foundations of early demography and vital statistics, and make a detailed examination of some of their chapters. It is clear that these texts mark a watershed in the history of medical statistics that demarcates the vital statistics of the nineteenth and early twentieth centuries from the modern discipline. Moreover, we consider that the book by Woods and Russell is of some importance in the development of medical statistics and we describe and acknowledge their place in the history of this discipline. (c) 2010 John Wiley & Sons, Ltd.

Automatic affective processing impairments in patients with deficit syndrome schizophrenia.

PubMed

Strauss, Gregory P; Allen, Daniel N; Duke, Lisa A; Ross, Sylvia A; Schwartz, Jason

2008-07-01

Affective impairments were examined in patients with and without deficit syndrome schizophrenia. Two Emotional Stroop tasks designed to measure automatic processing of emotional information were administered to deficit (n=15) and non-deficit syndrome (n=26) schizophrenia patients classified according to the Schedule for the Deficit Syndrome, and matched non-patient control subjects (n=22). In comparison to non-deficit patients and controls, deficit syndrome patients demonstrated a lack of attention bias for positive information, and an elevated attentional lingering effect for negative information. These findings suggest that positive information fails to automatically capture attention of deficit syndrome patients, and that when negative information captures attention, it produces difficulty in disengagement Attentional abnormalities were significantly correlated with negative symptoms, such that more severe symptoms were associated with less attention bias for positive emotion and a greater lingering effect for negative information. Results are generally consistent with a mood-congruent processing abnormality and suggest that impaired automatic processing may be core to diminished emotional experience symptoms exhibited in deficit syndrome patients.

Psychopathology in patients with endogenous Cushing's syndrome: 'atypical' or melancholic features.

PubMed

Dorn, L D; Burgess, E S; Dubbert, B; Simpson, S E; Friedman, T; Kling, M; Gold, P W; Chrousos, G P

1995-10-01

Prolonged elevations of glucocorticoids have been linked to the effective disturbances experienced by patients with Cushing's syndrome. Major depression has been most commonly reported in patients with endogenous Cushing's syndrome. The purpose of this study was to determine whether these patients experience melancholic or 'atypical' subtype depression and to determine relations between current psychological functioning and factors such as duration and severity of Cushing's syndrome. We examined 33 adult patients with documented Cushing's syndrome and 17 hospitalized, matched controls, using standardized structured interviews and tests. During the active phase of Cushing's syndrome (prior to and/or on admission), 66.7% of all patients reported histories meeting criteria for a psychiatric diagnosis. Of those with a diagnosis during Cushing's syndrome, 50% reported major depression. Upon presentation to this institution, atypical depression was the most common diagnosis involving 51.5% (n =17) of all enrolled patients. Of the 17 with atypical depression, 8 reported a co-morbid psychiatric disorder. The duration of Cushing's syndrome was an important factor in predicting whether patients sought psychological intervention or met criteria for psychiatric diagnosis. Patients with active endogenous Cushing's syndrome exhibit significant psychopathology expressed primarily by atypical depression. Longer duration of Cushing's syndrome may place them at increased risk of such psychopathology.

Metabolic syndrome in patients with depressive disorder--features of comorbidity.

PubMed

Kozumplik, Oliver; Uzun, Suzana

2011-03-01

Depression is associated with increased physical morbidity and overall mortality. The results of a previous investigation on the relationship of the metabolic syndrome and its single components with coronary heart disease, cardiovascular disease (CVD), and all-cause mortality suggested that the metabolic syndrome is a marker of CVD risk, but not above and beyond the risk associated with its individual components. The aim of this article is to review literature regarding prevalence of metabolic syndrome in patients with depressive disorder, and association between metabolic syndrome and depression. Literature research included structured searches of Medline and other publications on the subject of metabolic syndrome, particularly prevalence of metabolic syndrome in patients with depressive disorder, and association between metabolic syndrome and depression. Prevalence of the metabolic syndrome in patients with depression is high and varies among the analysed studies. Some investigations showed association between metabolic syndrome and depression. Further investigations are necessary in order to clarify the association between metabolic syndrome and depression.

Brugada Syndrome in a Patient with Vascular Ehlers-Danlos Syndrome: Sudden Death Risk Amplified.

PubMed

D'Souza, Jason; Malhotra, Divyanshu; Goud, Aditya; Dahagam, Chanukya; Everett, George

2017-04-19

The vast majority of sudden cardiac arrests occur in patients with structural heart disease and in approximately 10% of the cases, it can occur in those with structurally normal hearts. Brugada syndrome is an autosomal dominant sodium channelopathy that has been implicated in sudden deaths. Given their low prevalence, our knowledge about Brugada syndrome is still evolving. Apart from schizophrenia, there have been no reports of associated medical conditions. We recently encountered a patient with vascular Ehlers-Danlos syndrome who was also found to have Brugada syndrome. Both these conditions share some common clinical presentations including a propensity for sudden death.

Outcomes of male patients with Alport syndrome undergoing renal replacement therapy.

PubMed

Temme, Johanna; Kramer, Anneke; Jager, Kitty J; Lange, Katharina; Peters, Frederick; Müller, Gerhard-Anton; Kramar, Reinhard; Heaf, James G; Finne, Patrik; Palsson, Runolfur; Reisæter, Anna V; Hoitsma, Andries J; Metcalfe, Wendy; Postorino, Maurizio; Zurriaga, Oscar; Santos, Julio P; Ravani, Pietro; Jarraya, Faical; Verrina, Enrico; Dekker, Friedo W; Gross, Oliver

2012-12-01

Patients with the hereditary disease Alport syndrome commonly require renal replacement therapy (RRT) in the second or third decade of life. This study compared age at onset of RRT, renal allograft, and patient survival in men with Alport syndrome receiving various forms of RRT (peritoneal dialysis, hemodialysis, or transplantation) with those of men with other renal diseases. Patients with Alport syndrome receiving RRT identified from 14 registries in Europe were matched to patients with other renal diseases. A linear spline model was used to detect changes in the age at start of RRT over time. Kaplan-Meier method and Cox regression analysis were used to examine patient and graft survival. Age at start of RRT among patients with Alport syndrome remained stable during the 1990s but increased by 6 years between 2000-2004 and 2005-2009. Survival of patients with Alport syndrome requiring dialysis or transplantation did not change between 1990 and 2009. However, patients with Alport syndrome had better renal graft and patient survival than matched controls. Numbers of living-donor transplantations were lower in patients with Alport syndrome than in matched controls. These data suggest that kidney failure in patients with Alport syndrome is now being delayed compared with previous decades. These patients appear to have superior patient survival while undergoing dialysis and superior patient and graft survival after deceased-donor kidney transplantation compared with patients receiving RRT because of other causes of kidney failure.

Obstructive sleep apnoea syndrome in patients with primary open-angle glaucoma.

PubMed

Balbay, Ege G; Balbay, Oner; Annakkaya, Ali N; Suner, Kezban O; Yuksel, Harun; Tunç, Murat; Arbak, Peri

2014-10-01

To investigate the prevalence of obstructive sleep apnoea syndrome in patients with primary open-angle glaucoma. Case series. School of Medicine, Düzce University, Turkey. Twenty-one consecutive primary open-angle glaucoma patients (12 females and 9 males) who attended the out-patient clinic of the Department of Ophthalmology between July 2007 and February 2008 were included in this study. All patients underwent polysomnographic examination. The prevalence of obstructive sleep apnoea syndrome was 33.3% in patients with primary open-angle glaucoma; the severity of the condition was mild in 14.3% and moderate in 19.0% of the subjects. The age (P=0.047) and neck circumference (P=0.024) in patients with obstructive sleep apnoea syndrome were significantly greater than those without the syndrome. Triceps skinfold thickness in glaucomatous obstructive sleep apnoea syndrome patients reached near significance versus those without the syndrome (P=0.078). Snoring was observed in all glaucoma cases with obstructive sleep apnoea syndrome. The intra-ocular pressure of patients with primary open-angle glaucoma with obstructive sleep apnoea syndrome was significantly lower than those without obstructive sleep apnoea syndrome (P=0.006 and P=0.035 for the right and left eyes, respectively). There was no significant difference in the cup/disc ratio and visual acuity, except visual field defect, between primary open-angle glaucoma patients with and without obstructive sleep apnoea syndrome. Although it does not provide evidence for a cause-effect relationship, high prevalence of obstructive sleep apnoea syndrome in patients with primary open-angle glaucoma in this study suggests the need to explore the long-term results of coincidence, relationship, and cross-interaction of these two common disorders.

Method for the recovery of silver from silver zeolite

DOEpatents

Reimann, G.A.

1985-03-05

High purity silver is recovered from silver exchanged zeolite used to capture radioactive iodine from nuclear reactor and nuclear fuel reprocessing environments. The silver exchanged zeolite is heated with slag formers to melt and fluidize the zeolite and release the silver, the radioactivity removing with the slag. The silver containing metallic impurities is remelted and treated with oxygen and a flux to remove the metal impurities. About 98% of the silver in the silver exchanged zeolite having a purity of 99% or better is recoverable by the method.

Method for the recovery of silver from silver zeolite

DOEpatents

Reimann, George A.

1986-01-01

High purity silver is recovered from silver exchanged zeolite used to capture radioactive iodine from nuclear reactor and nuclear fuel reprocessing environments. The silver exchanged zeolite is heated with slag formers to melt and fluidize the zeolite and release the silver, the radioactivity removing with the slag. The silver containing metallic impurities is remelted and treated with oxygen and a flux to remove the metal impurities. About 98% of the silver in the silver exchanged zeolite having a purity of 99% or better is recoverable by the method.

Optic neuromyelitis syndrome in Brazilian patients

PubMed Central

Papais-Alvarenga, R; Miranda-Santos, C; Puccioni-Sohler, M; de Almeida, A M V; Oliveira, S; De Oliveira, C A B.; Alvarenga, H; Poser, C

2002-01-01

Objectives: To report the clinical features and outcome of 24 Brazilian patients with optic neuromyelitis syndrome (ONM); discuss the underlying pathological events associated with the ONM syndrome; review the nosological situation of ONM in the group of inflammatory and demyelinating diseases of the central nervous system. Patients and Methods: Patients with ONM treated at the Hospital da Lagoa, Rio de Janeiro were studied. Demographic, clinical, magnetic resonance imaging, cerebrospinal fluid, and pathological data were analysed. Results: The study consisted of 20 women, four men of whom 10 were white and 14 Afro-Brazilians. Clinical course was recurrent in 22 cases and monophasic in two. Neurological manifestations at inclusion were: sensory impairment (66%), bilateral (41.6%) or unilateral blindness (20.8%), paraplegia or quadriplegia (37.5%). The EDSS was moderate/severe in 70.8%. The underlying pathological events were respectively pulmonary tuberculosis and upper respiratory infection in the two monophasic cases; in the 22 recurrent ONM patients: pulmonary tuberculosis (3), neurocysticercosis (1), polyarteritis nodosa (1), antinuclear antibody and rheumatoid factor (1), antiphospholipid antibody primary syndrome (1), diabetes mellitus (1), hypothyroidism (1), and amenorrhea-galactorrhea (4). Normal cerebrospinal fluid was found in 52% and an inflammatory profile in 48%. Only four recurrent ONM white patients had brain and spinal cord magnetic resonance imaging and cerebrospinal fluid findings compatible with the diagnosis of multiple sclerosis. Large lesions were seen in 62% of spinal magnetic resonance images. Six of 12 recurrent ONM Afro-Brazilian died. There were no statistical differences in the demographic data of the two ethnic groups. Afro-Brazilians were significantly more severely impaired and had a higher mortality rate than the white patients. Conclusion: These cases were classified as follows: two monophasic acute disseminated encephalomyelitis

76 FR 20388 - Russell Investment Company, et al.; Notice of Application

Federal Register 2010, 2011, 2012, 2013, 2014

2011-04-12

...: Applicants request an order to permit open-end management investment companies relying on rule 12d1-2 under... Investment Funds (each a ``Trust and collectively the ``Trusts), Russell Investment Management Company... Blass, Branch Chief, at (202) 551-6821 (Division of Investment Management, Office of Investment Company...

Waardenburg syndrome in four Mexican patients.

PubMed

Aguilar Caso, Sandra I; Ortiz Nieva, Gabriela

2009-01-01

Waardenburg syndrome is a hereditary auditory-pigmentary syndrome. The major features include pigmentary disturbances and congenital deafness. Clinical findings are extremely variable, not only at the authors' institution but also in the literature. The authors describe four patients who presented with various clinical features and different genetic pedigree penetration.

Treatment of orofacial pain in patients with stylomandibular ligament syndrome (Ernest Syndrome).

PubMed

Peñarrocha-Oltra, D; Ata-Ali, J; Ata-Ali, F; Peñarrocha-Diago, M A; Peñarrocha, M

2013-06-01

Ernest syndrome involves the stylomandibular ligament. It is characterised by pain in the preauricular area and mandibular angle, radiating to the neck, shoulder, and eye on the same side, and associated with pain during palpation of that ligament. The purpose of this study is to describe the clinical characteristics, treatment, and course of the disease in a series of patients with Ernest syndrome. Retrospective observational study covering the period from 1998 to 2008. We recorded patients' age, sex, duration of the disorder, and pain characteristics. All patients were injected with 40mg triamcinolone acetonide at the mandibular insertion of the stylomandibular ligament. The study included a total of 6 patients. Mean age was 40.3 years (range, 35-51). All of the subjects were women. Four patients had undergone lengthy dental treatments in the month prior to onset of the pain. The mean time between pain onset and first consultation was 23 months. The syndrome resolved completely in all cases after treatment, with a minimum follow-up period of 12 months. We analysed the clinical characteristics, treatment, and course of disease in 6 patients with Ernest syndrome. Correct diagnosis is the key to being able to provide proper treatment. This disorder is sometimes confused with other types of orofacial pain, and may therefore be more prevalent than the literature would indicate. Copyright © 2012 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

[Gorlin-Goltz syndrome: manifestations in an elderly patient].

PubMed

Kos, S; Feil, B; Radü, E W

2007-10-31

Gorlin-Goltz syndrome is a rare inherited genodermatosis with an autosomal dominant trait. We hereby present a case of a 69 year old patient with known Gorlin-Goltz syndrome to emphasize the peculiar syndrome manifestations in the elderly.

Astronaut Russell Schweickart photographed during EVA

NASA Image and Video Library

1969-03-06

AS09-19-2983 (6 March 1969) --- Astronaut Russell L. Schweickart, lunar module pilot, operates a 70mm Hasselblad camera during his extravehicular activity (EVA) on the fourth day of the Apollo 9 Earth-orbital mission. The Command and Service Modules (CSM) and Lunar Module (LM) "Spider" are docked. This view was taken from the Command Module (CM) "Gumdrop". Schweickart, wearing an Extravehicular Mobility Unit (EMU), is standing in "golden slippers" on the LM porch. On his back, partially visible, are a Portable Life Support System (PLSS) and an Oxygen Purge System (OPS). Astronaut James A. McDivitt, Apollo 9 commander, was inside the "Spider". Astronaut David R. Scott, command module pilot, remained at the controls in the CM.

[Psychiatric disturbances in five patients with MELAS syndrome].

PubMed

Magner, Martin; Honzik, Tomas; Tesarova, Marketa; Dvorakova, Veronika; Hansiková, Hana; Raboch, Jiři; Zeman, Jiři

2014-01-01

Mitochondrial disorders of energetic metabolism (MD) represent a heterogeneous group of diseases manifesting at any age with a broad spectrum of clinical symptoms, including psychiatric disorders. The aim of the study was to characterize psychiatric symptoms and diagnoses in five patients with MELAS syndrome between the ages of 17 and 53 years. Four of MELAS patients them harbored the prevalent mitochondrial DNA (mtDNA) mutation 3243A>G, and one patient had the mtDNA mutation 12706T>C. Three patients had positive family histories for MELAS syndrome. In one patient, depression was diagnosedas the first symptom ofMELAS syndrome. Depression also preceded a stroke-like episode in one patient. Four patients had disturbed cognitive functions, confusional states occurred in three patients. One patient manifested psychotic (schizophrenia-like) symptoms. Mitochondrial disorders deserve consideration as part of the differential diagnosis, especially, if there is suspected involvement of other organ groups or positive family history of MD.

Serial Manifestation of Acute Kidney Injury and Nephrotic Syndrome in a Patient with TAFRO syndrome.

PubMed

Ito, Seigo; Uchida, Takahiro; Itai, Hiroki; Yamashiro, Aoi; Yamagata, Akira; Matsubara, Hidehito; Imakiire, Toshihiko; Shimazaki, Hideyuki; Kumagai, Hiroo; Oshima, Naoki

2018-06-06

A 76-year-old woman suddenly developed anasarca and a fever, and an examination revealed thrombocytopenia, reticulin fibrosis, and acute kidney injury, yielding the diagnosis of TAFRO syndrome. Renal replacement therapy and steroid treatment were soon started. Her proteinuria was minor at first; however, once the kidney function improved, nephrotic syndrome occurred. A kidney biopsy showed membranoproliferative glomerulonephritis-like glomerulopathy with massive macrophage infiltration. Although kidney dysfunction is often observed in TAFRO syndrome patients, its detailed mechanism is unclear. This case suggests that TAFRO syndrome involves both acute kidney injury with minor proteinuria and nephrotic syndrome, and these disorders can develop serially in the same patient.

Outcomes of Male Patients with Alport Syndrome Undergoing Renal Replacement Therapy

PubMed Central

Temme, Johanna; Kramer, Anneke; Jager, Kitty J.; Lange, Katharina; Peters, Frederick; Müller, Gerhard-Anton; Kramar, Reinhard; Heaf, James G.; Finne, Patrik; Palsson, Runolfur; Reisæter, Anna V.; Hoitsma, Andries J.; Metcalfe, Wendy; Postorino, Maurizio; Zurriaga, Oscar; Santos, Julio P.; Ravani, Pietro; Jarraya, Faical; Verrina, Enrico; Dekker, Friedo W.

2012-01-01

Summary Background and objectives Patients with the hereditary disease Alport syndrome commonly require renal replacement therapy (RRT) in the second or third decade of life. This study compared age at onset of RRT, renal allograft, and patient survival in men with Alport syndrome receiving various forms of RRT (peritoneal dialysis, hemodialysis, or transplantation) with those of men with other renal diseases. Design, setting, participants, & measurements Patients with Alport syndrome receiving RRT identified from 14 registries in Europe were matched to patients with other renal diseases. A linear spline model was used to detect changes in the age at start of RRT over time. Kaplan-Meier method and Cox regression analysis were used to examine patient and graft survival. Results Age at start of RRT among patients with Alport syndrome remained stable during the 1990s but increased by 6 years between 2000–2004 and 2005–2009. Survival of patients with Alport syndrome requiring dialysis or transplantation did not change between 1990 and 2009. However, patients with Alport syndrome had better renal graft and patient survival than matched controls. Numbers of living-donor transplantations were lower in patients with Alport syndrome than in matched controls. Conclusions These data suggest that kidney failure in patients with Alport syndrome is now being delayed compared with previous decades. These patients appear to have superior patient survival while undergoing dialysis and superior patient and graft survival after deceased-donor kidney transplantation compared with patients receiving RRT because of other causes of kidney failure. PMID:22997344

[Anesthetic management of four patients with Fournier syndrome].

PubMed

Sato, Rui; Tomioka, Toshiya; Orii, Ryo; Yamada, Yoshitsugu

2008-03-01

We experienced anesthetic managements of four patients with Fournier syndrome. In the anesthetic management of the patients with Fournier syndrome the following three points should be kept in mind; (a) the necessity of careful preoperative examination, (b) the better anesthesia, and (c) the careful postoperative care.

Biochemical nature of Russell Bodies

PubMed Central

Francesca Mossuto, Maria; Ami, Diletta; Anelli, Tiziana; Fagioli, Claudio; Maria Doglia, Silvia; Sitia, Roberto

2015-01-01

Professional secretory cells produce and release abundant proteins. Particularly in case of mutations and/or insufficient chaperoning, these can aggregate and become toxic within or amongst cells. Immunoglobulins (Ig) are no exception. In the extracellular space, certain Ig-L chains form fibrils causing systemic amyloidosis. On the other hand, Ig variants lacking the first constant domain condense in dilated cisternae of the early secretory compartment, called Russell Bodies (RB), frequently observed in plasma cell dyscrasias, autoimmune diseases and chronic infections. RB biogenesis can be recapitulated in lymphoid and non-lymphoid cells by expressing mutant Ig-μ, providing powerful models to investigate the pathophysiology of endoplasmic reticulum storage disorders. Here we analyze the aggregation propensity and the biochemical features of the intra- and extra-cellular Ig deposits in human cells, revealing β-aggregated features for RB. PMID:26223695

PMS2 involvement in patients suspected of Lynch syndrome.

PubMed

Niessen, Renée C; Kleibeuker, Jan H; Westers, Helga; Jager, Paul O J; Rozeveld, Dennie; Bos, Krista K; Boersma-van Ek, Wytske; Hollema, Harry; Sijmons, Rolf H; Hofstra, Robert M W

2009-04-01

It is well-established that germline mutations in the mismatch repair genes MLH1, MSH2, and MSH6 cause Lynch syndrome. However, mutations in these three genes do not account for all Lynch syndrome (suspected) families. Recently, it was shown that germline mutations in another mismatch repair gene, PMS2, play a far more important role in Lynch syndrome than initially thought. To explore this further, we determined the prevalence of pathogenic germline PMS2 mutations in a series of Lynch syndrome-suspected patients. Ninety-seven patients who had early-onset microsatellite instable colorectal or endometrial cancer, or multiple Lynch syndrome-associated tumors and/or were from an Amsterdam Criteria II-positive family were selected for this study. These patients carried no pathogenic germline mutation in MLH1, MSH2, or MSH6. When available, tumors were investigated for immunohistochemical staining (IHC) for PMS2. PMS2 was screened in all patients by exon-by-exon sequencing. We identified four patients with a pathogenic PMS2 mutation (4%) among the 97 patients we selected. IHC of PMS2 was informative in one of the mutation carriers, and in this case, the tumor showed loss of PMS2 expression. In conclusion, our study confirms the finding of previous studies that PMS2 is more frequently involved in Lynch syndrome than originally expected.

Prevention of infectious diseases in patients with Good syndrome.

PubMed

Multani, Ashrit; Gomez, Carlos A; Montoya, José G

2018-08-01

Good syndrome is a profoundly immunocompromising condition with heterogeneous immune deficits characterized by the presence of thymoma, low-to-absent B-lymphocyte counts, hypogammaglobulinemia, and impaired cell-mediated immunity. Opportunistic infectious diseases associated with Good syndrome represent a diagnostic and therapeutic challenge, given their protean clinical manifestations. Although these infectious complications have been reviewed in prior publications, recommendations regarding their prevention have been lacking. Good syndrome usually occurs in adult patients between the ages of 40 and 70 years. Immunologically, it is characterized by low or absent peripheral blood B lymphocytes, hypogammaglobulinemia, and variable defects in cell-mediated immunity including low CD4 T counts, inverted CD4:CD8 T-lymphocyte ratio, and reduced T-lymphocyte mitogen proliferative responses. Patients with Good syndrome are susceptible to a variety of infectious diseases, of which the most common are recurrent bacterial sinopulmonary infections, mucocutaneous candidiasis, and CMV tissue-invasive disease. Preventive guidelines including targeted antimicrobial prophylaxis and vaccination strategies can mitigate infectious complications in patients with Good syndrome. Immunological deficits and infectious complications in Good syndrome have been described for over 60 years. Further research is needed to elucidate its exact pathogenesis and define the mechanistic relationship between thymoma and hypogammaglobulinemia. However, tailored prophylactic strategies can be recommended for patients with Good syndrome.

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

PubMed

Neumann, Thomas E; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz; Sasiadek, Maria M; Musante, Luciana; Laurie, Rohan; Peters, Hartmut; Tartaglia, Marco; Zenker, Martin; Kalscheuer, Vera

2009-04-01

Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by mutations in BRAF, MEK1, MEK2, or KRAS. The NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS)). PTPN11 mutations are the only genetic abnormalities reported so far in some patients with NL/MGCLS and in one individual with LEOPARD syndrome and MGCL. In a cohort of 75 NS patients previously tested negative for mutations in PTPN11 and KRAS, we detected SOS1 mutations in 11 individuals, four of whom had MGCL. To explore further the relevance of aberrant RAS-MAPK signaling in syndromic MGCL, we analyzed the established genes causing CFCS in three subjects with MGCL associated with a phenotype fitting CFCS. Mutations in BRAF or MEK1 were identified in these patients. All mutations detected in these seven patients with syndromic MGCL had previously been described in NS or CFCS without apparent MGCL. This study demonstrates that MGCL may occur in NS and CFCS with various underlying genetic alterations and no obvious genotype-phenotype correlation. This suggests that dysregulation of the RAS-MAPK pathway represents the common and basic molecular event predisposing to giant cell lesion formation in patients with NS and CFCS rather than specific mutation effects.

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

PubMed Central

Neumann, Thomas E; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz; Sasiadek, Maria M; Musante, Luciana; Laurie, Rohan; Peters, Hartmut; Tartaglia, Marco; Zenker, Martin; Kalscheuer, Vera

2009-01-01

Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by mutations in BRAF, MEK1, MEK2, or KRAS. The NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS)). PTPN11 mutations are the only genetic abnormalities reported so far in some patients with NL/MGCLS and in one individual with LEOPARD syndrome and MGCL. In a cohort of 75 NS patients previously tested negative for mutations in PTPN11 and KRAS, we detected SOS1 mutations in 11 individuals, four of whom had MGCL. To explore further the relevance of aberrant RAS-MAPK signaling in syndromic MGCL, we analyzed the established genes causing CFCS in three subjects with MGCL associated with a phenotype fitting CFCS. Mutations in BRAF or MEK1 were identified in these patients. All mutations detected in these seven patients with syndromic MGCL had previously been described in NS or CFCS without apparent MGCL. This study demonstrates that MGCL may occur in NS and CFCS with various underlying genetic alterations and no obvious genotype–phenotype correlation. This suggests that dysregulation of the RAS-MAPK pathway represents the common and basic molecular event predisposing to giant cell lesion formation in patients with NS and CFCS rather than specific mutation effects. PMID:18854871

ALS syndrome in patients with HIV-1 infection.

PubMed

Verma, Ashok; Berger, Joseph R

2006-01-15

A viral etiology of amyotrophic lateral sclerosis (ALS) has been proposed because of the selective vulnerability of motor neurons to certain viruses. During the last 20 years, at least 19 cases of ALS or ALS-like disease have been reported in HIV-1 (HIV) seropositive individuals. To describe two cases of clinically definite ALS in patients with HIV infection and to review the previously reported cases of HIV-associated ALS syndrome. A multidisciplinary ALS center and Neuro-AIDS clinic at a tertiary care university hospital. We investigated and prospectively monitored two patients who had developed clinically definite ALS by El Escorial criteria several years after acquiring the HIV infection. The previously reported cases of ALS or ALS-like disease in patients with HIV infection were reviewed for comparison and contrast with the characteristics of sporadic ALS. The clinical course of ALS in our two HIV seropositive individuals mirrored that of classical sporadic ALS. A review of previously described 19 patients with ALS syndrome revealed clinically definite ALS in 4 cases and clinically probable or possible ALS in 15. ALS commenced at different stages of the HIV disease; in 7 patients, HIV infection was discovered contemporaneously with diagnosis of ALS. CD4+ T cell count ranged from 2 to 560 cells/mm3. Three (1 definite ALS) of the fatal cases were studied at autopsy and all exhibited pathology outside the motor neuron pool. Unlike our patients, 7 of 8 patients with HIV-associated ALS syndrome receiving HAART demonstrated at least partial recovery of their motor deficit. ALS-like syndrome can occur in association with HIV infection; however, the causal relationship remains uncertain. Patients with ALS syndrome related to HIV infection are generally younger in age and often demonstrate pathology outside the motor neuron system. Patients with HIV-associated ALS syndrome may improve following antiretroviral therapy. An aggressive HAART regimen to reduce viral load

Prevalence of dry eye syndrome and Sjogren's syndrome in patients with rheumatoid arthritis.

PubMed

Kosrirukvongs, Panida; Ngowyutagon, Panotsom; Pusuwan, Pawana; Koolvisoot, Ajchara; Nilganuwong, Surasak

2012-04-01

Rheumatoid arthritis has manifestations in various organs including ophthalmic involvement. The present study evaluates prevalence of dry eye and secondary Sjogren's syndrome using salivary scintigraphy which has not been used in previous reports. To evaluate the prevalence of secondary Sjogren's syndrome in patients with rheumatoid arthritis, including clinical characteristics and dry eye, compared with non-Sjogren's syndrome. Descriptive cross sectional study Sixty-one patients with rheumatoid arthritis were recruited at Siriraj Hospital during March 2009-September 2010 and filled in the questionnaires about dry eye for Ocular Surface Disease Index (OSDI) with a history taking of associated diseases, medications, duration of symptoms of dry eyes and dry mouth. The Schirmer I test without anesthesia, tear break-up time, rose bengal staining score, severity of keratitis and salivary scintigraphy were measured and analyzed. Prevalence of secondary Sjogren's syndrome and dry eye were 22.2% (95% CI 15.4 to 30.9) and 46.7% (95% CI 38.0 to 55.6), respectively. Dry eye interpreted from OSDI, Schirmer 1 test, tear break-up time and rose bengal staining was 16.4%, 46.7%, 82% and 3.3% respectively. Fifty-two percent of patients had a history of dry eye and dry mouth with mean duration 27.4 and 29.8 months, respectively. Superficial punctate keratitis and abnormal salivary scintigraphy were found in 58.2% and 77.8%. Duration of rheumatoid arthritis, erythrocyte sedimentation rate were not correlated with secondary Sjogren's syndrome. Dry eye from OSDI with secondary Sjogren's syndrome (33.3%) compared with non-Sjogren's syndrome (9.5%) was significant difference (p = 0.008). Adjusted odds ratio for secondary Sjogren's syndrome in OSDIL score > 25 was 13.8 (95% CI 2.6 to 73.8, p = 0.002) compared to OSDI score < 25. Awareness and detection of dry eye syndrome and secondary Sjogren's syndrome in rheumatoid arthritis was crucial for evaluation of their severity and proper

[State of duodenal patency in patients with postgastrectomy syndromes].

PubMed

Nazarenko, P M; Bilichenko, V B; Nazarenko, D P; Samgina, T A

2014-01-01

It was analyzed the examination and treatment results of 100 patients who underwent resection of stomach by Billroth-I in case of peptic ulcer. Chronic disorders of duodenal patency were diagnosed in 86% of patients. The main role of chronic disorders of duodenal patency in postgastrectomy syndromes development was proved. There were a combination of reflux gastritis with dumping syndrome in 66.3% of patients, a combination of reflux gastritis with recurrent ulcer in 8.1% of patients. Correction of chronic disorders of duodenal patency is necessary stage in conservative and surgical treatment of postgastrectomy syndromes.

Culture-bound syndromes in Hispanic primary care patients.

PubMed

Bayles, Bryan P; Katerndahl, David A

2009-01-01

We sought to document Hispanic primary care patients' knowledge and experience of five culture-bound syndromes (CBS), as well as the basic socio-cultural correlates of these disorders. A convenience sample of 100 adult Hispanic patients presenting in an urban South Texas primary care clinic was recruited to complete a brief cross-sectional survey, presented in an oral format. Interviews sought information concerning five culture-bound syndromes--susto, empacho, nervios, mal de ojo, and ataques de nervios. Additional demographic, socio-economic, and acculturation data was collected. Descriptive and bivariate statistics (chi square, Fisher's) were used to assess relationships among variables and experience with each CBS. A multivariate logistic analysis was conducted to determine the possible contributions of age, gender, acculturation, and education to the personal experience of a culture-bound syndrome. Results indicate that 77% of respondents had knowledge of all five syndromes, with 42% reporting having personally experienced at least one CBS. Nervios was the most commonly suffered disorder, being reported by 30 respondents. This was followed, in declining order ofprevalence, by susto, mal de ojo, empacho, and ataques de nervios. Multivariate logistic regression analysis found that higher education beyond high school was associated with a slightly decreased likelihood of reporting having suffered from any culture-bound syndrome. While co-occurrence among these disorders occurred, the patterns of predictors suggest that the co-occurrence is not a reflection of mislabeling of one common syndrome. Knowledge of and experience with culture-bound syndromes is common among Hispanic primary care patients in South Texas. Healthcare providers ought to consider discussing these illnesses in a non-judgmental manner with patients who present with symptoms that are consistent with these syndromes. Future studies, with larger sample sizes, are warranted to elucidate the nature

Unprovoked Pulmonary Embolism in a Young Patient with Marfan Syndrome.

PubMed

Pak, Stella; Kilgore, Andrew; Thornhill, Rosanne; Rako, Kyle; Meier, Ali; Pora, Gavriella; Costello, Jillian M; Dee, Christine

2017-09-05

Marfan syndrome is a rare connective tissue disorder with a prevalence of approximately 2 to 3 per 10,000 individuals. There have been some reports of young patients with Marfan syndrome developing arteriovenous thromboembolism. These events were unprovoked and recurrent. Owing to its rarity, hypercoagulopathy and other metabolic derangement in patients with Marfan syndrome remains largely unknown. Herein, we report a case of a young man with Marfan syndrome who had myocardial infarction and pulmonary embolism. We hope that this case adds to the scant body of knowledge about this patient population.

Metabolic syndrome in patients with severe mental illness in Gorgan

PubMed Central

Kamkar, Mohammad Zaman; Sanagoo, Akram; Zargarani, Fatemeh; Jouybari, Leila; Marjani, Abdoljalal

2016-01-01

Background: Metabolic syndrome is commonly associated with cardiovascular diseases and psychiatric mental illness. Hence, we aimed to assess the metabolic syndrome among severe mental illness (SMI). Materials and Methods: The study included 267 patients who were referred to the psychiatric unit at 5th Azar Education Hospital of Golestan University of Medical Sciences in Gorgan, Iran. Results: The mean waist circumference, systolic and diastolic blood pressure, triglyceride and fasting blood glucose levels were significantly higher in the SMI with metabolic syndrome, but the high density lipoprotein (HDL)-cholesterol was significantly lower. The prevalence of metabolic syndrome in SMI patients was 20.60%. There were significant differences in the mean of waist circumference, systolic (except for women) and diastolic blood pressure, triglyceride, HDL-cholesterol and fasting blood glucose in men and women with metabolic syndrome when compared with subjects without metabolic syndrome. The prevalence of metabolic syndrome in SMI women was higher than men. The most age distribution was in range of 30-39 years old. The most prevalence of metabolic syndrome was in age groups 50-59 years old. The prevalence of metabolic syndrome was increased from 30 to 59 years old. Conclusion: The prevalence of metabolic syndrome in patients with SMI in Gorgan is almost similar to those observed in Asian countries. The prevalence of metabolic syndrome was lower than western countries. These observations may be due to cultural differences in the region. It should be mention that the families of mental illness subjects in our country believe that their patients must be cared better than people without mental illness. These findings of this study suggest that mental illness patients are at risk of metabolic syndrome. According to our results, risk factors such as age and gender differences may play an important role in the presence of metabolic syndrome. In our country, women do less

Incompatibility between fasting and postprandial plasma glucose in patients with Cushing's syndrome.

PubMed

Otsuki, Michio; Kitamura, Tetsuhiro; Tamada, Daisuke; Tabuchi, Yukiko; Mukai, Kosuke; Morita, Shinya; Kasayama, Soji; Shimomura, Iichiro; Koga, Masafumi

2016-11-30

It is shown that glucocorticoids have discordant effects on plasma glucose concentration through their effects on hepatic glycogen deposition, gluconeogenesis and peripheral insulin resistance. Cushing's syndrome caused by cortisol overproduction is frequently accompanied with diabetes mellitus, but fasting plasma glucose (FPG) and post-glucose load plasma glucose levels are not examined in patients with Cushing's syndrome. The aim of this study was to investigate FPG, HbA1c and oral glucose tolerance test (OGTT) 2-h PG and their relationship in patients with Cushing's syndrome, in comparison with control subjects. Sixteen patients with Cushing's syndrome (ACTH-dependent 31%, ACTH-independent 69% and diabetes mellitus 50%) and 64 controls (32 patients with type 2 diabetes mellitus and 32 non-diabetic subjects matched for age, sex and BMI) were enrolled in this study. HbA1c and FPG in the patients with Cushing's syndrome were not different from the controls, whereas the FPG/HbA1c ratio was significantly lower in the patients with Cushing's syndrome than the controls. OGTT 2-h PG was significantly higher in the non-diabetic patients with Cushing's syndrome than the non-diabetic controls, while HbA1c was not different between both groups and FPG was significantly lower in the patients with Cushing's syndrome than the controls. HOMA-β but not HOMA-R was significantly higher in the patients with Cushing's syndrome than the controls. In conclusion, FPG was rather lower in the patients with Cushing's syndrome than the controls. Postprandial PG or post-glucose loaded PG, but not FPG, is useful to evaluate the abnormality of glucose metabolism in patients with Cushing's syndrome.

Antibacterial activity and toxicity of silver - nanosilver versus ionic silver

NASA Astrophysics Data System (ADS)

Kvitek, L.; Panacek, A.; Prucek, R.; Soukupova, J.; Vanickova, M.; Kolar, M.; Zboril, R.

2011-07-01

The in vitro study of antibacterial activity of silver nanoparticles (NPs), prepared via modified Tollens process, revealed high antibacterial activity even at very low concentrations around several units of mg/L. These concentrations are comparable with concentrations of ionic silver revealing same antibacterial effect. However, such low concentrations of silver NPs did not show acute cytotoxicity to mammalian cells - this occurs at concentrations higher than 60 mg/L of silver, while the cytotoxic level of ionic silver is much more lower (approx. 1 mg/L). Moreover, the silver NPs exhibit lower acute ecotoxicity against the eukaryotic organisms such as Paramecium caudatum, Monoraphidium sp. and D. melanogaster. The silver NPs are toxic to these organisms at the concentrations higher than 30 mg/L of silver. On contrary, ionic silver retains its cytoxicity and ecotoxicity even at the concentration equal to 1 mg/L. The performed experiments demonstrate significantly lower toxicity of silver NPs against the eukaryotic organisms than against the prokaryotic organisms.

Astronaut Russell Schweickart photographed during EVA

NASA Image and Video Library

1969-03-06

AS09-19-2994 (6 March 1969) --- Astronaut Russell L. Schweickart, lunar module pilot, is photographed from the Command Module (CM) "Gumdrop" during his extravehicular activity (EVA) on the fourth day of the Apollo 9 Earth-orbital mission. He holds, in his right hand, a thermal sample which he is retrieving from the Lunar Module (LM) exterior. The Command and Service Modules (CSM) and LM "Spider" are docked. Schweickart, wearing an Extravehicular Mobility Unit (EMU), is standing in "golden slippers" on the LM porch. Visible on his back are the Portable Life Support System (PLSS) and Oxygen Purge System (OPS). Astronaut James A. McDivitt, Apollo 9 commander, was inside the "Spider". Astronaut David R. Scott, command module pilot, remained at the controls in the CM "Gumdrop".

Activated protein C resistance in patients following venous thromboembolism receiving rivaroxaban versus vitamin K antagonists: assessment using Russell viper venom time-based assay.

PubMed

Goralczyk, Tadeusz; Wojtowicz, Katarzyna B; Undas, Anetta

2017-06-01

: Activated protein C resistance (APC-R) is assessed as part of thrombophilia screening, preferably in patients not taking oral anticoagulants. Rivaroxaban is known to alter some APC-R assays. To our knowledge, there have been no reports on the effect of rivaroxaban on the Russell viper venom time (RVVT)-based APC-R assay in real-life patients. In 168 consecutive outpatients suspected of having venous thromboembolism because of thrombophilia, APC-R was determined using the RVVT-based ProC Ac R assay (Siemens, Marburg, Germany). Patients receiving rivaroxaban or vitamin K antagonists were eligible. We measured rivaroxaban concentrations using the anti-Xa Biophen DiXal assay (Hyphen Biomed, Neuville-Sur-Oise, France) and factor V Leiden using the real-time PCR. APC-R was detected in 23 (28%) patients on rivaroxaban (n = 81) administrated 2-48 h since the blood draw, 15 (28%) patients on vitamin K antagonists (n = 54), and in four (12%) patients off anticoagulation (n = 33). Compared with nonanticoagulated patients, APC-R ratios were similar in patients on rivaroxaban, without any correlation with rivaroxaban concentrations (from 0 to 303 μg/l). None of the patients on rivaroxaban were found to have false-negative or false-positive APC-R ratios. Rivaroxaban concentrations up to 300 μg/l do not affect results of the ProC Ac R RVVT-based assay, which could be recommended in patients referred to a clinic for thrombophilia screening in whom the time since the last dose of rivaroxaban is uncertain.

Investigation of Demodex folliculorum frequency in patients with polycystic ovary syndrome.

PubMed

Eser, Ayla; Erpolat, Seval; Kaygusuz, Ikbal; Balci, Hatice; Kosus, Aydin

2017-01-01

Background: Demodex mites are acari that reside in the pilosebaceous unit of the skin and have been associated with skin disorders. The objective of this study was to investigate the prevalence of Demodex folliculorum (D. folliculorum) mites in polycystic ovary syndrome patients as well as to examine the relationship between Demodex infestation and the presence of acne and oily or dry skin types in polycystic ovary syndrome patients. 41 polycystic ovary syndrome patients and 47 non-polycystic ovary syndrome control subjects were enrolled in the study. polycystic ovary syndrome was diagnosed according to the revised 2003 ESHRE/ASRM polycystic ovary syndrome Consensus Workshop Group diagnostic criteria. Microscopic examination of D. folliculorum mites was carried out by standardized skin surface biopsy. The result was considered positive when there were more than 5 mites per cm2. D. folliculorum was positive in 53.7% of the polycystic ovary syndrome patients and 31.9% of the non-polycystic ovary syndrome group (p=0.052). Demodex positivity was significantly associated with acne (p=0.003) and oily skin (p=0.005) in the polycystic ovary syndrome patients but not in the controls. Our study is limited by the relatively small number of subjects and the observational nature of the study design. Demodex mites might have a role in acne pathogenesis in patients with polycystic ovary syndrome. Anti-Demodex treatment may increase the response to treatment of acne. Further studies are indicated.

Aortic dissection in patients with Marfan syndrome based on the IRAD data

PubMed Central

de Beaufort, Hector W. L.; Korach, Amit; Di Eusanio, Marco; Gilon, Dan; Montgomery, Daniel G.; Evangelista, Arturo; Braverman, Alan C.; Chen, Edward P.; Isselbacher, Eric M.; Gleason, Thomas G.; De Vincentiis, Carlo; Sundt, Thoralf M.; Patel, Himanshu J.; Eagle, Kim A.

2017-01-01

Between January 1996 and May 2017, the International Registry on Acute Aortic Dissections has collected information on a total of 6,424 consecutive patients with acute aortic dissection, including 258 individuals with a diagnosis of Marfan syndrome. Patients with Marfan syndrome presented at a significantly younger age compared to patients without Marfan syndrome (38.2±13.2 vs. 63.0±14.0 years; P<0.001) and in general had fewer comorbidities, although they more frequently had a known aortic aneurysm and history of prior cardiac surgery. We noted significantly larger diameters of the aortic annulus and root in the Marfan syndrome cohort, but no larger diameters more distally. The in-hospital mortality in type A dissection was not significantly different in patients with or without Marfan syndrome, despite the differences in age and comorbidities and the lower incidence of aortic rupture in the Marfan syndrome cohort. In contrast, the in-hospital mortality of Marfan syndrome patients with type B dissection appears to be lower than that of patients without Marfan syndrome. The Marfan syndrome cohort that was treated with open surgery for type B dissection seemed to do especially well, with a 0% mortality rate (n=27). Follow-up data for type A and B dissections combined show an estimated five-year survival rate of 80.1% and an estimated reintervention rate of 55.3% in patients with Marfan syndrome. Such a high rate of reinterventions highlights the need for careful surveillance and treatment for patients with Marfan syndrome surviving the acute phase of aortic dissection. PMID:29270375

Aortic dissection in patients with Marfan syndrome based on the IRAD data.

PubMed

de Beaufort, Hector W L; Trimarchi, Santi; Korach, Amit; Di Eusanio, Marco; Gilon, Dan; Montgomery, Daniel G; Evangelista, Arturo; Braverman, Alan C; Chen, Edward P; Isselbacher, Eric M; Gleason, Thomas G; De Vincentiis, Carlo; Sundt, Thoralf M; Patel, Himanshu J; Eagle, Kim A

2017-11-01

Between January 1996 and May 2017, the International Registry on Acute Aortic Dissections has collected information on a total of 6,424 consecutive patients with acute aortic dissection, including 258 individuals with a diagnosis of Marfan syndrome. Patients with Marfan syndrome presented at a significantly younger age compared to patients without Marfan syndrome (38.2±13.2 vs . 63.0±14.0 years; P<0.001) and in general had fewer comorbidities, although they more frequently had a known aortic aneurysm and history of prior cardiac surgery. We noted significantly larger diameters of the aortic annulus and root in the Marfan syndrome cohort, but no larger diameters more distally. The in-hospital mortality in type A dissection was not significantly different in patients with or without Marfan syndrome, despite the differences in age and comorbidities and the lower incidence of aortic rupture in the Marfan syndrome cohort. In contrast, the in-hospital mortality of Marfan syndrome patients with type B dissection appears to be lower than that of patients without Marfan syndrome. The Marfan syndrome cohort that was treated with open surgery for type B dissection seemed to do especially well, with a 0% mortality rate (n=27). Follow-up data for type A and B dissections combined show an estimated five-year survival rate of 80.1% and an estimated reintervention rate of 55.3% in patients with Marfan syndrome. Such a high rate of reinterventions highlights the need for careful surveillance and treatment for patients with Marfan syndrome surviving the acute phase of aortic dissection.

Mutiple Spontaneous Rib Fractures in Patient with Cushing's Syndrome.

PubMed

Lee, Hyun Jung; Je, Ji Hye; Seo, Ji Hye; Na, Young Ju; Yoo, Hye Jin

2014-11-01

Glucocorticoid (GC) excess, including Cushing's syndrome, is a common cause of secondary osteoporosis. Thirty to fifty percent of Cushing's syndrome patients experience non-traumatic fractures, which is often the presenting manifestation of Cushing's syndrome. However, there have been rare cases of Cushing's syndrome diagnosed only based upon bone manifestations. We describe a case of Cushing's syndrome that was diagnosed in a 44-year-old woman who initially visited our hospital due to multiple non-traumatic rib fractures. She did not exhibit any other manifestations of Cushing's syndrome such as moon face, buffalo hump or abdominal striae. Initially, we evaluated her for bone metastases from a cancer of unknown origin, but there was no evidence of metastatic cancer. Instead, we found a left adrenal incidentaloma. As a result of the hormone study, she was diagnosed as having Cushing's syndrome. Interestingly, her bony manifestation of Cushing's syndrome, which was evident in the bone scan and bone mineral densitometry, completely recovered after a left adrenalectomy. Therefore, the possibility of Cushing's syndrome as a cause of secondary osteoporosis should be considered in young patients with non-traumatic multiple fractures, with or without any other typical features of Cushing's syndrome.

Colorectal Cancer Risk in Patients With Lynch Syndrome and Inflammatory Bowel Disease.

PubMed

Derikx, Lauranne A A P; Smits, Lisa J T; van Vliet, Shannon; Dekker, Evelien; Aalfs, Cora M; van Kouwen, Mariëtte C A; Nagengast, Fokko M; Nagtegaal, Iris D; Hoogerbrugge, Nicoline; Hoentjen, Frank

2017-03-01

Lynch syndrome and inflammatory bowel diseases (IBD) are associated with an increased risk of colorectal cancer (CRC). However, it is not clear whether the risk of CRC is even higher for patients with a combination of Lynch syndrome and IBD. We investigated the risk for CRC in this subgroup by establishing a Lynch syndrome cohort from the Radboud University Medical Center (Nijmegen, The Netherlands) and the Academic Medical Center (Amsterdam, The Netherlands). Patients with heterozygous germline mutations in MLH1, MSH2 (and EPCAM deletion-mediated MSH2 methylation), MSH6, or PMS2 who were tested and/or treated from 1998 through 2014 were included. Patients who developed IBD were identified by linkage of this cohort to the Dutch nationwide Pathology Registry (PALGA). Subsequently, we compared the risk of CRC between Lynch syndrome patients with IBD and without IBD. Of 1046 patients with Lynch syndrome, 15 developed IBD (1.4%). Patients with Lynch syndrome and IBD were significantly younger (median age, 38.0 y) than patients with Lynch syndrome without IBD (median age, 52.0 y; P = .001). Nevertheless, a similar proportion of patients in each group developed CRC: 4 of the 15 patients (26.7%) with Lynch syndrome and IBD compared with 311 of the 1031 patients (30.2%) with Lynch syndrome without IBD. Patients with Lynch syndrome and IBD developed CRC at a younger age (median age, 36.0 y) than patients with Lynch syndrome without IBD (median age, 46.0 y; P = .045). However, the cumulative incidence of CRC was similar between groups (P = .121). All patients with Lynch syndrome and IBD who developed CRC had ulcerative colitis, producing a higher cumulative incidence of CRC for this IBD subgroup (P < .001). In conclusion, patients with Lynch syndrome and IBD develop CRC risk at a younger age than patients without IBD; patients with ulcerative colitis are at especially high risk. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.

Severe obstructive sleep apnoea syndrome in an adult patient with Laron syndrome.

PubMed

Dagan, Y; Abadi, J; Lifschitz, A; Laron, Z

2001-08-01

A 68 year old patient with Laron syndrome (primary growth hormone (GH) resistance-insensitivity due to a molecular defect of the GH receptor) and severe obstructive sleep apnoea syndrome is described. Treatment with continuous positive air pressure therapy resulted in improved nocturnal sleep, daytime alertness and cognitive functions. Copyright 2001 Harcourt Publishers Ltd.

Brown-McLean Syndrome in a Pediatric Patient

PubMed Central

Tourkmani, Abdo Karim; Martinez, Jaime D.; Berrones, David; Juárez-Domínguez, Brenda Y.; Beltrán, Francisco; Galor, Anat

2015-01-01

The purpose of this manuscript is to report the case of a 12-year-old patient who presented for routine ophthalmic examination after congenital cataract surgery performed at 2 months of age. The patient was diagnosed with bilateral Brown-McLean syndrome by slit lamp examination. No treatment was required because the patient was asymptomatic and had a clear central cornea. This is the first described case of Brown-McLean syndrome in a pediatric patient, representing the importance of clinical examination in the pediatric age group after cataract surgery because of the risk for patients of developing peripheral edema. PMID:26034485

Brown-McLean Syndrome in a Pediatric Patient.

PubMed

Tourkmani, Abdo Karim; Martinez, Jaime D; Berrones, David; Juárez-Domínguez, Brenda Y; Beltrán, Francisco; Galor, Anat

2015-01-01

The purpose of this manuscript is to report the case of a 12-year-old patient who presented for routine ophthalmic examination after congenital cataract surgery performed at 2 months of age. The patient was diagnosed with bilateral Brown-McLean syndrome by slit lamp examination. No treatment was required because the patient was asymptomatic and had a clear central cornea. This is the first described case of Brown-McLean syndrome in a pediatric patient, representing the importance of clinical examination in the pediatric age group after cataract surgery because of the risk for patients of developing peripheral edema.

[Contribution of animal models to the study of reproduction, assisted reproductive technologies and of development].

PubMed

Jammes, Hélène; Fauque, Patricia; Jouannet, Pierre

2010-02-01

Children conceived through assisted reproductive technologies (ART) now account for a noteworthy proportion (-2.4%) of births in France. Considerable attention is being paid to the outcome of ART pregnancies. The vast majority of these children are apparently normal. However, they are at an increased risk of minor birth defects, low birth weight, and rare imprinting disorders such as Beckwith-Wiedemann syndrome (BWS), Angelman syndrome (AS) and Silver Russel syndrome (SRS). Animal models are important for investigating the possible role of each step of ART (ovarian stimulation, gamete manipulation, in vitro fertilization, embryo culture and embryo transfer) in epigenetic reprogramming This review discusses these issues in the context of epigenetic and developmental abnormalities observed in animals following ART More research is needed on ART-induced errors, focusing not only on genomic imprinting but also on non-imprinted loci, which may help explain some of the more subtle longer-term health effects emerging from studies with animal models.

Genomic imprinting and dermatological disease.

PubMed

Millington, G W M

2006-09-01

Imprinting is the process whereby genetic alleles responsible for a phenotype are derived from one parent only. It is an epigenetic phenomenon resulting from DNA methylation or modification of protruding histones. When imprinted genes are disrupted, syndromes with characteristic patterns of inheritance and multisystem phenotype occur. Those detailed in this article have some quite characteristic cutaneous features and patterns of inheritance. These diseases include Beckwith-Wiedmann, Silver-Russell, Prader-Willi, McCune-Albright and Angelman syndromes, Albright's hereditary osteodystrophy, and progressive osseous heteroplasia. In the case of Von Hippel-Lindau syndrome, hypomelanosis of Ito and dermatopathia pigmentosa reticularis, imprinting may play a part in the inheritance. With neurofibromatosis type 1, a nonimprinted condition, the expression of the phenotype could be affected by interaction with imprinted gene loci. Imprinted genes could also play a part in the polygenetic inheritance of more common diseases also, as atopic eczema and psoriasis may have predominantly maternal and paternal modes of transmission, respectively.

Cost-effectiveness Analysis of Silver Delivery Approaches in the Management of Partial-thickness Burns.

PubMed

Nherera, Leo; Trueman, Paul; Roberts, Christopher; Berg, Leena

2018-02-23

Burn injury is a common type of traumatic injury that causes considerable morbidity and mortality, resulting in about 30,000 admissions annually in specialist burn centers and costing around $1 billion per year in the United States. One percent silver sulfadiazine has been utilized widely in the management of burns and newer silver dressings are on the market, including nanocrystalline silver dressings, silver-impregnated hydrofiber dressings, and silver-impregnated foam dressings. This study sought to determine the cost effectiveness of the newer silver dressings using clinical data from an indirect treatment comparison using silver sulfadiazine as the baseline. A decision analytic model was developed from a US payer's perspective for burn patients with a total body surface area of < 20%. Outcomes were length of stay, infections and incidence of surgical procedures, quality adjusted life years (QALYs), and cost. The meta-analysis reported a statistically significant reduction in length of hospital stay and clinically important reductions in infections and incidence of surgical procedures in favor of the silver barrier dressing compared with other silver dressings. The estimated QALYs were 0.970 versus 0.969 versus 0.969 and mean cost per patient was $15,892, $23,799, and $24,269 for the nanocrystalline silver dressing, silver-impregnated hydrofiber dressing, and silver-impregnated foam dressing, respectively. The analysis showed the nanocrystalline silver dressing to be a dominant strategy (less costly with better outcomes). These findings were robust to a range of sensitivity analyses. According to data from an indirect treatment comparison, this analysis suggests that nanocrystalline silver dressing is the most cost-effective silver delivery system. Prospective head-to-head research on the costs and outcomes of these silver delivery systems in this patient population is necessary to validate the results of this economic evaluation.

The refractive state of the eye in Icelandic horses with the Silver mutation.

PubMed

Johansson, Maria K; Jäderkvist Fegraeus, Kim; Lindgren, Gabriella; Ekesten, Björn

2017-06-02

The syndrome Multiple Congenital Ocular Anomalies (MCOA) is a congenital eye disorder in horses. Both the MCOA syndrome and the Silver coat colour in horses are caused by the same missense mutation in the premelanosome protein (PMEL) gene. Horses homozygous for the Silver mutation (TT) are affected by multiple ocular defects causing visual impairment or blindness. Horses heterozygous for the Silver mutation (CT) have less severe clinical signs, usually cysts arising from the ciliary body iris or retina temporally. It is still unknown if the vision is impaired in horses heterozygous for the Silver mutation. A recent study reported that Comtois horses carrying the Silver mutation had significantly deeper anterior chambers of the eye compared to wild-type horses. This could potentially cause refractive errors. The purpose of the present study was to investigate if Icelandic horses with the Silver mutation have refractive errors compared to wild-type horses. One hundred and fifty-two Icelandic horses were included in the study, 71 CT horses and five TT horses. All horses were genotyped for the missense mutation in PMEL. Each CT and TT horse was matched by a wild-type (CC) horse of the same age ± 1 year. Skiascopy and a brief ophthalmic examination were performed in all horses. Association between refraction and age, eye, genotype and sex was tested by linear mixed-effect model analysis. TT horses with controls were not included in the statistical analyses as they were too few. The interaction between age and genotype had a significant impact on the refractive state (P = 0.0001). CT horses older than 16 years were on average more myopic than wild-type horses of the same age. No difference in the refractive state could be observed between genotypes (CT and CC) in horses younger than 16 years. TT horses were myopic (-2 D or more) in one or both eyes regardless of age. Our results indicate that an elderly Icelandic horse (older than 16 years) carrying the Silver

CE: Nursing Management of Patients with Ehlers-Danlos Syndrome.

PubMed

Anderson, Linda K

2015-07-01

Ehlers-Danlos syndrome (EDS), a hereditary connective tissue disorder, has historically been misunderstood and underdiagnosed by health care providers. Because of the high degree of phenotypic variability, patients are often correctly diagnosed only after years of seemingly unrelated but debilitating injuries and illnesses. Specific genetic mutations have been identified for some, but not all, EDS types; patients presenting with a high index of suspicion should be referred to a geneticist. As awareness and recognition of the syndrome improve, nurses are increasingly likely to care for patients with EDS. This article gives a brief overview of the syndrome and provides guidance on ways to manage symptoms, recognize and prevent serious complications, and improve patients' quality of life.

Metabolic syndrome and risk of acute coronary syndromes in patients younger than 45 years of age.

PubMed

Milionis, Haralampos J; Kalantzi, Kallirroi J; Papathanasiou, Athanasios J; Kosovitsas, Athanasios A; Doumas, Michael T; Goudevenos, John A

2007-06-01

There is a paucity of data with regard to the association of the metabolic syndrome with cardiovascular risk in young adults. We investigated the association of the metabolic syndrome with acute coronary syndrome in adults aged 45 years or younger. A total of 136 consecutive patients (128 men and eight women; mean age, 41.2+/-3.7 years) presenting with a first-ever acute coronary syndrome, and 136 age-matched and sex-matched controls were evaluated. The diagnosis of the metabolic syndrome was established according to the Adult Treatment Panel III criteria. The prevalence of the metabolic syndrome was significantly higher in the patients' group compared with the control group (40.4 versus 23.5%; P=0.003). Multivariate logistic regression analysis showed that smoking, positive family history of premature coronary artery disease, and the metabolic syndrome were associated with odds ratios 4.46 (95% confidence interval, 2.30-8.66; P<0.001), 3.11 (95% confidence interval, 1.71-5.66; P<0.001), and 1.97 (95% confidence interval, 1.08-3.56; P=0.02) higher odds, respectively, of having an acute coronary syndrome, after taking into account the matching for age and sex and controlling for potential confounders. Moreover, a 10-mg/dl increase in total cholesterol was associated with 1.06 higher odds of having an acute coronary syndrome. Analysis of interaction showed that smoking and a positive family history of premature coronary artery disease in young individuals with metabolic syndrome had an incremental effect on the odds of suffering an acute coronary syndrome (odds ratio, 7.12; 95% confidence interval, 2.42-20.96; P<0.001). The metabolic syndrome is highly associated with acute coronary syndrome in patients younger than 45 years of age, indicating the need for early and intensive preventive measures.

Oral toxicity of silver ions, silver nanoparticles and colloidal silver--a review.

PubMed

Hadrup, Niels; Lam, Henrik R

2014-02-01

Orally administered silver has been described to be absorbed in a range of 0.4-18% in mammals with a human value of 18%. Based on findings in animals, silver seems to be distributed to all of the organs investigated, with the highest levels being observed in the intestine and stomach. In the skin, silver induces a blue-grey discoloration termed argyria. Excretion occurs via the bile and urine. The following dose-dependent animal toxicity findings have been reported: death, weight loss, hypoactivity, altered neurotransmitter levels, altered liver enzymes, altered blood values, enlarged hearts and immunological effects. Substantial evidence exists suggesting that the effects induced by particulate silver are mediated via silver ions that are released from the particle surface. With the current data regarding toxicity and average human dietary exposure, a Margin of Safety calculation indicates at least a factor of five before a level of concern to the general population is reached. Copyright © 2013 Elsevier Inc. All rights reserved.

FDG-PET study of patients with Leigh syndrome.

PubMed

Haginoya, Kauzhiro; Kaneta, Tomohiro; Togashi, Noriko; Hino-Fukuyo, Naomi; Kobayashi, Tomoko; Uematsu, Mitsugu; Kitamura, Taro; Inui, Takehiko; Okubo, Yukimune; Takezawa, Yusuke; Anzai, Mai; Endo, Wakaba; Miyake, Noriko; Saitsu, Hirotomo; Matsumoto, Naomichi; Kure, Shigeo

2016-03-15

We conducted a [(18)F]fluorodeoxyglucose positron emission tomography (FDG-PET) study in five patients (median age 11 (range 4-13) years) with Leigh syndrome to evaluate its usefulness for understanding the functional brain dysfunction in this disease and in future drug trials. Four patients were found to have reported mitochondrial DNA gene mutations. The brain T2-weighted magnetic resonance imaging (MRI) showed high-intensity areas in the putamen bilaterally in five patients, caudate bilaterally in four, thalamus bilaterally in two, and brainstem in one. Cerebellar atrophy was observed in older two patients. For disease control, seven age-matched epilepsy patients who had normal MRI and FDG-PET studies were selected. For semiquantitative analysis of the lesions with decreased (18)F-FDG uptake, the mean standard uptake value (SUV) was calculated in regions of interest (ROIs) placed in each brain structure. We compared the SUV of nine segments (the frontal, temporal, parietal, and occipital lobes, thalami, basal ganglia, mid-brain, pons, and cerebellum) between patients with Leigh syndrome and controls. The glucose uptake was decreased significantly in the cerebellum and basal ganglia, which could explain the ataxia and dystonia in patients with Leigh syndrome. Although this study had some limitations, FDG-PET might be useful for evaluating the brain dysfunction and treatment efficacy of new drugs in patients with Leigh syndrome. Further study with more patients using advanced methods to quantify glucose uptake is needed before drawing a conclusion. Copyright © 2016 Elsevier B.V. All rights reserved.

Cerebellar hematoma in a patient with Marfan syndrome.

PubMed

Passalacqua, Marcello; Grasso, Giovanni; Alafaci, Concetta; Collufio, Domenicantonio; Morabito, Antonio; Salpietro, Francesco M; Tomasello, Francesco

2003-08-01

Marfan syndrome is a connective tissue disorder affecting many structures, including the skeleton, lungs, eyes, heart and blood vessels. It is an autosomal dominant inherited disorder due to a mutation of a gene encoding fibrillin-1, which affects connective tissue. Few case reports have associated Marfan syndrome with vascular malformations of the brain and spinal cord. In this regard, association with intracranial aneurysm has been vaguely proposed. We report here a patient with Marfan syndrome who was admitted because of a sudden loss of consciousness. The patient underwent computed tomography (CT) examination, which disclosed a right intracerebellar hematoma. Cerebral angiogram did not demonstrate aneurysm or arteriovenous malformation (AVM), or evidence of any other vascular lesions or neoplasms in the posterior fossa. Conservative treatment was undertaken. The clinical course was uneventful and after 6 weeks the patient was discharged free of symptoms. Although patients with Marfan syndrome are at high risk of vascular abnormalities, a clear association with cerebral aneurysm has not yet been established. Our experience and the contrasting reports available in the medical literature strongly warrant further studies in order to better clarify this controversial association.

Revitalising Silver Nitrate for Caries Management

PubMed Central

Zhao, Irene Shuping; Duffin, Steve; Duangthip, Duangporn

2018-01-01

Silver nitrate has been adopted for medical use as a disinfectant for eye disease and burned wounds. In dentistry, it is an active ingredient of Howe’s solution used to prevent and arrest dental caries. While medical use of silver nitrate as a disinfectant became subsidiary with the discovery of antibiotics, its use in caries treatment also diminished with the use of fluoride in caries prevention. Since then, fluoride agents, particularly sodium fluoride, have gained popularity in caries prevention. However, caries is an infection caused by cariogenic bacteria, which demineralise enamel and dentine. Caries can progress and cause pulpal infection, but its progression can be halted through remineralisation. Sodium fluoride promotes remineralisation and silver nitrate has a profound antimicrobial effect. Hence, silver nitrate solution has been reintroduced for use with sodium fluoride varnish to arrest caries as a medical model strategy of caries management. Although the treatment permanently stains caries lesions black, this treatment protocol is simple, painless, non-invasive, and low-cost. It is well accepted by many clinicians and patients and therefore appears to be a promising strategy for caries control, particularly for young children, the elderly, and patients with severe caries risk or special needs. PMID:29316616

Silver deposition and tissue staining associated with wound dressings containing silver.

PubMed

Walker, Michael; Cochrane, Christine A; Bowler, Philip G; Parsons, David; Bradshaw, Peter

2006-01-01

Argyria is the general term used to denote a clinical condition in which excessive administration and deposition of silver causes a permanent irreversible gray-blue discoloration of the skin or mucous membranes. The amount of discoloration usually depends on the route of silver delivery (ie, oral or topical administration) along with the body's ability to absorb and excrete the administered silver compound. Argyria is accepted as a rare dermatosis but once silver particles are deposited, they remain immobile and may accumulate during the aging process. Topical application of silver salts (eg, silver nitrate solution) may lead to transient skin staining. To investigate their potential to cause skin staining, two silver-containing dressings (Hydrofiber and nanocrystalline) were applied to human skin samples taken from electively amputated lower limbs. The potential for skin discoloration was assayed using atomic absorption spectroscopy. When the dressings were hydrated with water, a significantly higher amount of silver was released from the nanocrystalline dressing compared to the Hydrofiber dressing (P <0.005), which resulted in approximately 30 times more silver deposition. In contrast, when saline was used as the hydration medium, the release rates were low for both dressings and not significantly different (silver deposition was minimal). Controlling the amount of silver released from silver-containing dressings should help reduce excessive deposition of silver into wound tissue and minimize skin staining.

Diagnosis and management of sleep apnea syndrome and restless legs syndrome in dialysis patients.

PubMed

Novak, Marta; Mendelssohn, David; Shapiro, Colin M; Mucsi, Istvan

2006-01-01

Sleep complaints are very common in patients with end-stage renal disease (ESRD) and contribute to their impaired quality of life. Both obstructive and central sleep apnea syndromes are reported more often in patients on dialysis than in the general population. Impaired daytime functioning, sleepiness, and fatigue, as well as cognitive problems, are well known in patients with sleep apnea. Increasing evidence supports the pathophysiological role of sleep apnea in cardiovascular disorders, which are the leading cause of death in ESRD patients. Uremic factors may be involved in the pathogenesis of sleep apnea in this patient population and optimal dialysis may reduce disease severity. Furthermore, treatment with continuous positive airway pressure may improve quality of life and may help to manage hypertension in these patients. Secondary restless legs syndrome is highly prevalent in patients on maintenance dialysis. The pathophysiology of the disorder may also involve uremia-related factors, iron deficiency, and anemia, but genetic and lifestyle factors might also play a role. The treatment of restless legs syndrome involves various pharmacologic approaches and might be challenging in severe cases. In this article we review the diagnosis and treatment of sleep apnea and restless legs syndrome, with a focus on dialysis patients. We also briefly review current data regarding sleep problems after transplantation, since these studies may indirectly shed light on the possible pathophysiological role of uremia or dialysis in the etiology of sleep disorders. Considering the importance of sleep disorders, more awareness among professionals involved in the care of patients on dialysis is necessary. Appropriate management of sleep disorders could improve the quality of life and possibly even impact upon survival of renal patients.

Investigating hyperventilation syndrome in patients suffering from empty nose syndrome.

PubMed

Mangin, David; Bequignon, Emilie; Zerah-Lancner, Francoise; Isabey, Daniel; Louis, Bruno; Adnot, Serge; Papon, Jean-François; Coste, André; Boyer, Laurent; Devars du Mayne, Marie

2017-09-01

Patients with empty nose syndrome (ENS) following turbinate surgery often complain about breathing difficulties. We set out to determine if dyspnea in patients with ENS was associated with hyperventilation syndrome (HVS). We hypothesized that lower airway symptoms in ENS could be explained by HVS. Observational prospective study. All consecutive patients referred to our center for ENS over 1 year were invited to participate. Patients completed the Nijmegen score and underwent a hyperventilation provocation test (HVPT) and arterial blood gas and cardiopulmonary tests. HVS was defined by a delayed return of the end-tidal partial pressure of carbon dioxide in the expired gas to baseline during HVPT. Patients with HVS were asked to complete the Sinonasal Outcome Test (SNOT)-16 questionnaire before and after a specific eight-session respiratory rehabilitation program. Twenty-two of the 29 patients referred for ENS during the study period were eligible for inclusion and underwent a complete workup. HVS was diagnosed in 17 of these patients (77.3%). In the five patients who completed the SNOT-16, the score was significantly lower after rehabilitation. This study suggests that HVS is frequent in patients with ENS, and that symptoms can be improved by respiratory rehabilitation. Pathophysiological links between ENS and HVS deserve to be further explored. 2b Laryngoscope, 127:1983-1988, 2017. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

[The vertebral artery syndrome and patient management tactics].

PubMed

Panteleeva, E A

2012-01-01

The data of literature on vertebral artery syndrome, its clinical presentations, etiology and pathogenesis are summarized. Based on the own studies, the author considers possibilities for a pathogenetic treatment of this syndrome with sermion (nicergoline). Twenty-two patients, aged 21-71 years (a half of them were outpatients and another half were inpatients), were treated with sermion. Treatment duration ranged from 2 to 6 months. The positive effect of sermion on the most frequent clinical symptoms of the vertebral artery syndrome, including headache, vertigo and persistent or sudden increase in the blood pressure, was noted. The long-term treatment with sermion revealed a significant improvement in patient's quality of life measured with SF-36. The treatment was effective in any variant of vertebral artery syndrome regardless of its causes.

The renal histopathological spectrum of patients with nephrotic syndrome: an analysis of 1523 patients in a single Chinese centre.

PubMed

Zhou, Fu-de; Shen, Hai-Yan; Chen, Min; Liu, Gang; Zou, Wan-Zhong; Zhao, Ming-Hui; Wang, Hai-Yan

2011-12-01

Nephrotic syndrome is caused by a variety of glomerulopathy. The current study investigated the renal histopathological spectrum of patients with nephrotic syndrome who received a renal biopsy in our department within the last 15 years. One thousand five hundred and twenty-three consecutive patients (≥14 years old at renal biopsy) with nephrotic syndrome were recruited. Patients were divided into four groups according to age at the time of renal biopsy. The renal histopathological spectrum was also compared between nephrotic-range proteinuria patients with and without hypoalbuminaemia. Among the 1523 patients, the most common cause of nephrotic syndrome was idiopathic membranous nephropathy (IMN) (20.7%), followed by minimal change disease (MCD) (20.4%). Among the patients aged 14-24, 25-44, 45-59 and ≥60 years, the most common cause of nephrotic syndrome was MCD (33.0%), lupus nephritis (LN) (23.0%), IMN (37.9%) and IMN (42.3%), respectively. Among the female patients aged 14-24 and 25-44 years, LN was the leading cause of nephrotic syndrome (35.8 and 36.2%, respectively). The proportion of patients with renal amyloidosis increased in parallel with patient age. The comparison between nephrotic patients with and without hypoalbuminaemia suggests that patients with MCD, LN or renal amyloidosis were more likely to develop hypoalbuminaemia. The renal histopathological spectrum of nephrotic syndrome differs between ages. MCD, LN and IMN were the main cause of nephrotic syndrome among younger patients, and IMN was the main cause of nephrotic syndrome among older patients. The proportion of patients with renal amyloidosis increased in parallel with patient age.

[Refeeding syndrome in geriatric patients : A frequently overlooked complication].

PubMed

Wirth, Rainer; Diekmann, Rebecca; Fleiter, Olga; Fricke, Leonhardt; Kreilkamp, Annika; Modreker, Mirja Katrin; Marburger, Christian; Nels, Stefan; Schaefer, Rolf; Willschrei, Heinz-Peter; Volkert, Dorothee

2018-01-01

The refeeding syndrome is a life-threatening complication that can occur after initiation of a nutrition therapy in malnourished patients. If the risk factors and pathophysiology are known, the refeeding syndrome can effectively be prevented and treated, if recognized early. A slow increase of food intake and the close monitoring of serum electrolyte levels play an important role. Because the refeeding syndrome is not well known and the symptoms may vary extremely, this complication is poorly recognized, especially against the background of geriatric multimorbidity. This overview is intended to increase the awareness of the refeeding syndrome in the risk group of geriatric patients.

Primary hyperparathyroidism in patients with organic brain syndrome.

PubMed

Joborn, C; Hetta, J; Frisk, P; Palmér, M; Akerström, G; Ljunghall, S

1986-01-01

In a retrospective study of 552 patients operated on for primary hyperparathyroidism (HPT) the effects of parathyroid surgery were selectively investigated in 13 elderly patients with organic brain syndrome. With a few exceptions, these 13 patients had mild or moderate hypercalcaemia but severe mental impairment. Ten patients had a clinical diagnosis of senile dementia and 12 had been admitted from a mental hospital. Postoperatively, eight patients improved mentally and seven of them were able to return to their homes or could be transferred to somatic units. The eight patients who showed improvement, either temporary or more permanent, had a relatively short duration of mental symptoms preoperatively, all less than 2 years, while those who did not improve mentally after surgery had a longer history of mental illness. Screening for HPT was subsequently performed in a psychogeriatric clinic to investigate the prevalence of HPT in this population. Hypercalcaemia and probable HPT was found in five (5%) of 101 patients. The results indicate that parathyroidectomy may improve the mental state in patients with HPT and organic brain syndrome. As a substantial number of patients in a psychogeriatric population seem to have HPT, the disease should be searched for in patients with newly diagnosed organic brain syndrome.

Controversies in Poland Syndrome: Alternative Diagnoses in Patients With Congenital Pectoral Muscle Deficiency.

PubMed

Baas, Martijn; Burger, Elise B; Sneiders, Dimitri; Galjaard, Robert-Jan H; Hovius, Steven E R; van Nieuwenhoven, Christianne A

2018-02-01

Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency. A systematic literature search was performed. Articles containing phenotypical descriptions of Poland syndrome were included. Data extraction included number of patients, sex, familial occurrence, and the definition of Poland syndrome used. In addition, hand deformities, thoracic deformities, and other deformities in each patient were recorded. Alternative syndrome diagnoses were identified in patients with a combination of hand, thorax, and other deformities. One hundred-and-thirty-six articles were included, describing 627 patients. Ten different definitions of Poland syndrome were utilized. In 58% of the cases, an upper extremity deformity was found and 43% of the cases had an associated deformity. Classic Poland syndrome was seen in 29%. Fifty-seven percent of the patients with a pectoral malformation, a hand malformation, and another deformity had at least 1feature that matched an alternative syndrome. Pectoral muscle hypoplasia is not distinctive for Poland syndrome alone but is also present in syndromes with other associated anomalies with a recognized genetic cause. Therefore, in patients with an atypical phenotype, we recommend considering other diagnoses and/or syndromes before diagnosing a patient with Poland syndrome. This can prevent diagnostic and prognostic errors. Differentiating Poland syndrome from the alternative diagnoses has serious consequences for the patient and their family in terms of inheritance and possible related anomalies

Russell body gastritis with Dutcher bodies evaluated using magnification endoscopy

PubMed Central

Yorita, Kenji; Iwasaki, Takehiro; Uchita, Kunihisa; Kuroda, Naoto; Kojima, Koji; Iwamura, Shinichi; Tsutsumi, Yutaka; Ohno, Akinobu; Kataoka, Hiroaki

2017-01-01

Russell body gastritis (RBG) is an unusual type of chronic gastritis characterized by marked infiltration of Mott cells, which are plasma cells filled with spherical eosinophilic bodies referred to as Russell bodies. It was initially thought that Helicobacter pylori (H. pylori) infection was a major cause of RBG and that the infiltrating Mott cells were polyphenotypic; however, a number of cases of RBG without H. pylori infection or with monoclonal Mott cells have been reported. Thus, diagnostic difficulty exists in distinguishing RBG with monoclonal Mott cells from malignant lymphoma. Here, we report an unusual case of an 86-year-old-Japanese man with H. pylori-positive RBG. During the examination of melena, endoscopic evaluation confirmed a 13-mm whitish, flat lesion in the gastric antrum. Magnification endoscopy with narrow-band imaging suggested that the lesion was most likely a poorly differentiated adenocarcinoma. Biopsy findings were consistent with chronic gastritis with many Mott cells with intranuclear inclusions referred to as Dutcher bodies. Endoscopic submucosal dissection confirmed the diagnosis of RBG with kappa-restricted monoclonal Mott cells. Malignant lymphoma was unlikely given the paucity of cytological atypia and Ki-67 immunoreactivity of monoclonal Mott cells. This is the first reported case of RBG with endoscopic diagnosis of malignant tumor and the presence of Dutcher bodies. PMID:28874963

Behçet's syndrome patients exhibit specific microbiome signature.

PubMed

Consolandi, Clarissa; Turroni, Silvia; Emmi, Giacomo; Severgnini, Marco; Fiori, Jessica; Peano, Clelia; Biagi, Elena; Grassi, Alessia; Rampelli, Simone; Silvestri, Elena; Centanni, Manuela; Cianchi, Fabio; Gotti, Roberto; Emmi, Lorenzo; Brigidi, Patrizia; Bizzaro, Nicola; De Bellis, Gianluca; Prisco, Domenico; Candela, Marco; D'Elios, Mario M

2015-04-01

Behçet syndrome is a systemic inflammatory condition characterized by muco-cutaneous and ocular manifestations, with central nervous system, vascular and/or gastro-intestinal involvement. The association of microbiota with Behçet syndrome has not been shown yet. Our work was aimed to compare the gut microbiota structure and the profiles of short-chain fatty acids production in Behçet syndrome patients and healthy control relatives. Here, we compared the fecal microbiota of 22 patients with Behçet syndrome and that of 16 healthy co-habiting controls, sharing the same diet and lifestyle by pyrosequencing of the V3-V4 hypervariable regions of the 16 rDNA gene and biochemical analyses. Our analyses showed significant differences in gut microbiota between Behçet patients and healthy cohabitants. In particular we found that Behçet's patients were significantly depleted in the genera Roseburia and Subdoligranulum. Roseburia showed a relative abundance value of 10.45±6.01% in healthy relatives and 4.97±5.09% in Behçet's patients, and Subdoligranulum, which reached a relative abundance of 3.28±2.20% in healthy controls, was only at 1.93±1.75% of abundance in Behçet's patients. Here we report, for the first time, that a peculiar dysbiosis of the gut microbiota is present in patients with Behçet syndrome and this corresponds to specific changes in microbiome profile. A significant decrease of butyrate production (P=0.0033) in Behçet's patients was demonstrated. Butyrate is able to promote differentiation of T-regulatory cells, and consequently the results obtained prompt us to speculate that a defect of butyrate production might lead to both reduced T-reg responses and activation of immuno-pathological T-effector responses. Altogether, our results indicate that both a peculiar dysbiosis of the gut microbiota and a significant decrease of butyrate production are present in patients with Behçet syndrome. Published by Elsevier B.V.

Asperger Syndrome: a frequent comorbidity in first diagnosed adult ADHD patients?

PubMed

Roy, Mandy; Ohlmeier, Martin D; Osterhagen, Lasse; Prox-Vagedes, Vanessa; Dillo, Wolfgang

2013-06-01

Because adult ADHD is often accompanied by psychiatric comorbidities, the diagnostic process should include a thorough investigation for comorbid disorders. Asperger-Syndrome is rarely reported in adult ADHD and commonly little attention is paid to this possible comorbidity. We investigated 53 adult ADHD-patients which visited our out patient clinic for first ADHD-diagnosis (17 females, 36 males; range of age: 18-56 years) for the frequency of a comorbid Asperger-Syndrome. Diagnosis of this autism-spectrum disorder was confirmed by applying the appropriate DSM-IV-criteria. Additionally we tested the power of the two screening-instruments "Autism-spectrum quotient" (AQ) and "Empathy quotient" (EQ) by Baron-Cohen for screening Asperger-Syndrome in adult ADHD. Eight ADHD-patients were diagnosed with a comorbid Asperger-Syndrome (15.1%). The difference in AQ- and EQ-scores between pure ADHD-patients and comorbid patients was analysed, showing significantly higher scores in AQ and significant lower scores in EQ in comorbid patients. Results show that the frequency of Asperger-Syndrome seems to be substantially increased in adult ADHD (versus the prevalence of 0.06% in the general population), indicating that investigators of adult ADHD should also be attentive to autism-spectrum disorders. Especially the AQ seems to be a potential screening instrument for Asperger-Syndrome in adult ADHD-patients.

Psychological correlates and psychiatric morbidity in patients with Dhat syndrome

PubMed Central

Grover, Sandeep; Gupta, Sunil; Avasthi, Ajit

2015-01-01

Aim: The aim of this study was to examine psychological factors in the form of somatosensory amplification, alexithymia and hypochondriasis in patients with Dhat syndrome. Secondary aims of the study were: (1) To evaluate the influence of psychiatric comorbidity on the psychological correlates; (2) to compare the prevalence of psychological correlates in those with Dhat syndrome and in those with depression and somatoform disorders. Materials and Methods: A total of 106 subjects diagnosed with Dhat syndrome as per International Classification of Diseases-10 (ICD-10) criteria were assessed on Toronto Alexithymia Scale (TAS-20), Somatosensory Amplification Scale (SSAS) and Whitely Index (WI). Psychiatric comorbidity was diagnosed as per ICD-10. Data on 50 patients with depression and 119 patients with somatoform disorder was used for comparison. Results: The age at onset of Dhat syndrome was 22.54 (standard deviation [SD] - 7.5) years, and duration of illness was 5.04 (SD - 4.2) years. Depressive disorders were diagnosed in 13.2%, anxiety disorders in 15.1%, erectile dysfunction in 14.2% and premature ejaculation in 17% of cases. The mean SSAS total score was 23.12 (SD - 7.99), mean total TAS-20 score was 63.3 (SD - 13.3) and mean WI score was 8.23 (SD - 2.7). About two third of the patients had alexithymia (n = 67; 63.2%) and hypochondriasis (n = 69; 65.1%). Comparison of the psychological correlates between those with Dhat syndrome alone (n = 59) and those with comorbid psychiatric disorder (n = 47) revealed no significant differences. Patients with only Dhat syndrome had significantly higher scores for somatosensory amplification when compared with those with somatoform disorders, but no difference was seen between those with depression and Dhat syndrome alone. Compared to patients with Dhat syndrome alone, those with depression had higher prevalence of alexithymia and hypochondriasis. Conclusion: There are differences in the prevalence of somatosensory

Silver nasal sprays: misleading Internet marketing.

PubMed

Gaslin, Michael T; Rubin, Cory; Pribitkin, Edmund A

2008-04-01

Long-term use of silver-containing products is associated with a permanent bluish-gray discoloration of the skin known as argyria, but they remain widely available despite several measures by the FDA to regulate them. Several recent case reports have described the occurrence of argyria as a result of using these "natural" products. We used the five most common Internet search engines to find Web sites providing information on silver-containing nasal sprays. Of 49 Web sites analyzed, only 2 (4%) mentioned argyria as a possible complication, although 30 (61%) did caution against long-term use. Eight sites (16%) made specific claims about the health benefits of the product. All 49 sites (100%) provided direct or indirect links to buy silver-containing nasal sprays. We conclude that information about silver-containing nasal sprays on the Internet is misleading and inaccurate. Therefore, otolaryngologists should be aware of the misinformation their patients may be receiving about these products.

Somatic syndromes, insomnia, anxiety, and stress among sleep disordered breathing patients.

PubMed

Amdo, Tshering; Hasaneen, Nadia; Gold, Morris S; Gold, Avram R

2016-05-01

We tested the hypothesis that the prevalence of somatic syndromes, anxiety, and insomnia among sleep disordered breathing (SDB) patients is correlated with their levels of somatic arousal, the symptoms of increased sympathetic nervous system tone under conditions of stress. We administered the Body Sensation Questionnaire (BSQ; a 17-item questionnaire with increasing levels of somatic arousal scored 17-85) to 152 consecutive upper airway resistance syndrome (UARS) patients and 150 consecutive obstructive sleep apnea/hypopnea (OSA/H) patients. From medical records, we characterized each patient in terms of the presence of syndromes and symptoms into three categories: somatic syndromes (six syndromes), anxiety (anxiety disorders, nightmares, use of benzodiazepines), and insomnia (sleep onset, sleep maintenance, and use of hypnotics). For the pooled sample of SDB patients, we modeled the correlation of the BSQ score with the presence of each syndrome/symptom parameter within each of the three categories, with adjustment for male vs. female. Mean BSQ scores in females were significantly higher than those in males (32.5 ± 11.1 vs. 26.9 ± 8.2; mean ± SD). Increasing BSQ scores significantly correlated with increasing prevalence rates of somatic syndromes (p < 0.0001), of anxiety (p < 0.0001), and of insomnia (p ≤ 0.0001). In general, females had higher prevalence rates of somatic syndromes and symptoms of anxiety than males at any BSQ score while rates of insomnia were similar. In patients with SDB, there is a strong association between the level of somatic arousal and the presence of stress-related disorders like somatic syndromes, anxiety, and insomnia.

Fluctuating Cotard syndrome in a patient with advanced Parkinson disease.

PubMed

Solla, Paolo; Cannas, Antonino; Orofino, Gianni; Marrosu, Francesco

2015-02-01

Nonmotor fluctuations of psychiatric symptoms in patients suffering from Parkinson disease (PD) represent a very disabling condition, which may seriously interfere with the quality of life of patients and caregivers. In this regard, these disturbances are present with a higher frequency in advanced PD patients with associated motor complications and can appear both in "on" and in "off" period. Here we report on a case of fluctuating Cotard syndrome clearly related to "wearing-off" deterioration and responsive to levodopa treatment in a patient affected by advanced PD. A 76-year-old woman presented with a 13-year history of PD. Her caregivers reported that, in the last 2 months, she has developed a sudden onset of nihilistic delusion (Cotard syndrome), mainly during the "wearing-off" condition and associated with end of dose dyskinesias and akathisia.As Cotard syndrome clearly improved with the administration of levodopa, the patient was successfully treated changing the levodopa schedule with the shortening of intervals between levodopa intakes in small doses. Both the appearance of the Cotard syndrome in this patient during the "off" state and the subsequent improvement of psychotic symptoms after levodopa administration strongly suggest an important correlation with the dopaminergic dysregulation.This finding suggests that dopaminergic deficit might play a key factor in the development of Cotard syndrome.

Toxic shock syndrome in a patient with systemic lupus erythematosus.

PubMed Central

Chan, R. M.; Graham, H. R.; Birmingham, C. L.

1983-01-01

A case is presented of toxic shock syndrome in a patient with systemic lupus erythematosus. Toxic shock syndrome is rarely reported in patients who are immunosuppressed, perhaps because such patients are often treated vigorously with antibiotics at the earliest sign of infection. The association in this case may have been coincidental. PMID:6640456

Zinc and homocysteine levels in polycystic ovarian syndrome patients with insulin resistance.

PubMed

Guler, Ismail; Himmetoglu, Ozdemir; Turp, Ahmet; Erdem, Ahmet; Erdem, Mehmet; Onan, M Anıl; Taskiran, Cagatay; Taslipinar, Mine Yavuz; Guner, Haldun

2014-06-01

In this study, our objective was to evaluating the value of serum zinc levels as an etiologic and prognostic marker in patients with polycystic ovarian syndrome. We conducted a prospective study, including 53 women with polycystic ovarian syndrome and 33 healthy controls. We compared serum zinc levels, as well as clinical and metabolic features, of the cases. We also compared serum zinc levels between patients with polycystic ovarian syndrome with insulin resistance. Mean zinc levels were found to be significantly lower in patients with polycystic ovarian syndrome than healthy controls. Multiple logistic regression analysis of significant metabolic variables between polycystic ovarian syndrome and control groups (serum zinc level, body mass index, the ratio of triglyceride/high-density lipoprotein cholesterol, and homocysteine) revealed that zinc level was the most significant variable to predict polycystic ovarian syndrome. Mean serum zinc levels tended to be lower in patients with polycystic ovarian syndrome with impaired glucose tolerance than patients with normal glucose tolerance, but the difference was not statistically significant. In conclusion, zinc deficiency may play a role in the pathogenesis of polycystic ovarian syndrome and may be related with its long-term metabolic complications.

Imbalanced network biomarkers for traditional Chinese medicine Syndrome in gastritis patients.

PubMed

Li, Rui; Ma, Tao; Gu, Jin; Liang, Xujun; Li, Shao

2013-01-01

Cold Syndrome and Hot Syndrome are thousand-year-old key therapeutic concepts in traditional Chinese medicine (TCM), which depict the loss of body homeostasis. However, the scientific basis of TCM Syndrome remains unclear due to limitations of current reductionist approaches. Here, we established a network balance model to evaluate the imbalanced network underlying TCM Syndrome and find potential biomarkers. By implementing this approach and investigating a group of chronic superficial gastritis (CSG) and chronic atrophic gastritis (CAG) patients, we found that with leptin as a biomarker, Cold Syndrome patients experience low levels of energy metabolism, while the CCL2/MCP1 biomarker indicated that immune regulation is intensified in Hot Syndrome patients. Such a metabolism-immune imbalanced network is consistent during the course from CSG to CAG. This work provides a new way to understand TCM Syndrome scientifically, which in turn benefits the personalized medicine in terms of the ancient medicine and complex biological systems.

Imbalanced network biomarkers for traditional Chinese medicine Syndrome in gastritis patients

PubMed Central

Li, Rui; Ma, Tao; Gu, Jin; Liang, Xujun; Li, Shao

2013-01-01

Cold Syndrome and Hot Syndrome are thousand-year-old key therapeutic concepts in traditional Chinese medicine (TCM), which depict the loss of body homeostasis. However, the scientific basis of TCM Syndrome remains unclear due to limitations of current reductionist approaches. Here, we established a network balance model to evaluate the imbalanced network underlying TCM Syndrome and find potential biomarkers. By implementing this approach and investigating a group of chronic superficial gastritis (CSG) and chronic atrophic gastritis (CAG) patients, we found that with leptin as a biomarker, Cold Syndrome patients experience low levels of energy metabolism, while the CCL2/MCP1 biomarker indicated that immune regulation is intensified in Hot Syndrome patients. Such a metabolism-immune imbalanced network is consistent during the course from CSG to CAG. This work provides a new way to understand TCM Syndrome scientifically, which in turn benefits the personalized medicine in terms of the ancient medicine and complex biological systems. PMID:23529020

Prevalence of Asperger syndrome among patients of an Early Intervention in Psychosis team.

PubMed

Davidson, Conor; Greenwood, Nick; Stansfield, Alison; Wright, Stephen

2014-05-01

There is a lack of systematic studies into comorbidity of Asperger syndrome and psychosis. To determine the prevalence of Asperger syndrome among patients of an early intervention in psychosis service. This study was a cross-sectional survey consisting of three phases: screening, case note review and diagnostic interviews. All patients on caseload (n = 197) were screened using the Autism Spectrum Disorder in Adults Screening Questionnaire. The case notes of patients screened positive were then reviewed for information relevant to Asperger syndrome. Those suspected of having Asperger syndrome were invited for a diagnostic interview. Thirty patients were screened positive. Three of them already had a diagnosis of Asperger syndrome made by child and adolescent mental health services. After case note review, 13 patients were invited to interview. Four did not take part, so nine were interviewed. At interview, four were diagnosed with Asperger syndrome. In total, seven patients had Asperger syndrome. Thus, the prevalence rate in this population is at least 3.6%. The results suggest that the prevalence of Asperger syndrome in first-episode psychosis is considerably higher than that in the general population. Clinicians working in early intervention teams need to be alert to the possibility of Asperger syndrome when assessing patients. © 2013 Wiley Publishing Asia Pty Ltd.

Correlates of positive and negative schizophrenic syndromes in Nigerian patients.

PubMed

Gureje, O

1989-11-01

The two-syndrome concept of schizophrenia was investigated in a sample of 70 Nigerian schizophrenic patients. The positive and negative syndromes were studied in relation to demographic, historical, neurological and psychometric measures. The negative syndrome was associated with cognitive impairment, behavioural deterioration and left eye dominance, and also with poor pre-morbid educational achievement and longer length of current stay in hospital. The positive syndrome was unrelated to any of the independent variables. The two syndromes were not significantly related, supporting the view that they represent relatively independent dimensions of pathology. This provides further support for the validity of the Type I-Type II subtyping of schizophrenia in populations of patients from different cultural backgrounds, and suggests that the negative syndrome is related to the presence of neurodevelopmental deficits that possibly antedate the schizophrenic illness.

Preoperative Detailed Coagulation Tests Are Required in Patients With Noonan Syndrome.

PubMed

Morice, Anne; Harroche, Annie; Cairet, Pascale; Khonsari, Roman H

2017-12-29

Patients with Noonan syndrome often require surgery at young ages. They are at high risk of perioperative bleeding from coagulation defects that might not have been detected by routine screening. These risks are rarely described in the oral and maxillofacial surgery (OMS) literature. The aim of this study was to evaluate the perioperative bleeding risks associated with Noonan syndrome and to propose preoperative guidelines. This report describes a retrospective case series of patients with Noonan syndrome who underwent OMS procedures during a continuous observational period (2013 through 2016) in the authors' center. Clinical data, blood screening test results, and perioperative bleeding were analyzed. Five patients (age, 4 to 20 yr) with Noonan syndrome who underwent OMS procedures were included in this study. One patient presented a spontaneous bleeding tendency (epistaxis requiring cauterization). Blood screening showed clotting defects in 3 patients. One patient presented abnormal perioperative bleeding owing to a mild defect in factor XI. Patients with Noonan syndrome must be referred to a hematologist for specific preoperative investigations and for adapted perioperative management. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

Exposure-related health effects of silver and silver compounds: a review.

PubMed

Drake, Pamela L; Hazelwood, Kyle J

2005-10-01

A critical review of studies examining exposures to the various forms of silver was conducted to determine if some silver species are more toxic than others. The impetus behind conducting this review is that several occupational exposure limits and guidelines exist for silver, but the values for each depend on the form of silver as well as the individual agency making the recommendations. For instance, the American Conference of Governmental Industrial Hygienists has established separate threshold limit values for metallic silver (0.1 mg/m3) and soluble compounds of silver (0.01 mg/m3). On the other hand, the permissible exposure limit (PEL) recommended by the Occupational Safety and Health Administration and the Mine Safety and Health Administration and the recommended exposure limit set by the National Institute for Occupational Safety and Health is 0.01 mg/m3 for all forms of silver. The adverse effects of chronic exposure to silver are a permanent bluish-gray discoloration of the skin (argyria) or eyes (argyrosis). Most studies discuss cases of argyria and argyrosis that have resulted primarily from exposure to the soluble forms of silver. Besides argyria and argyrosis, exposure to soluble silver compounds may produce other toxic effects, including liver and kidney damage, irritation of the eyes, skin, respiratory, and intestinal tract, and changes in blood cells. Metallic silver appears to pose minimal risk to health. The current occupational exposure limits do not reflect the apparent difference in toxicities between soluble and metallic silver; thus, many researchers have recommended that separate PELs be established.

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome

PubMed Central

Kamiyoshi, Naohiro; Fu, Xue Jun; Morisada, Naoya; Nozu, Yoshimi; Ye, Ming Juan; Imafuku, Aya; Miura, Kenichiro; Yamamura, Tomohiko; Minamikawa, Shogo; Shono, Akemi; Ninchoji, Takeshi; Morioka, Ichiro; Nakanishi, Koichi; Yoshikawa, Norishige; Kaito, Hiroshi; Iijima, Kazumoto

2016-01-01

Background and objectives Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, and ocular abnormalities. Autosomal dominant Alport syndrome caused by heterozygous mutations in collagen 4A3 and/or collagen 4A4 accounts for <5% of patients. However, the clinical, genetic, and pathologic backgrounds of patients with autosomal dominant Alport syndrome remain unclear. Design, setting, participants, & measurements We conducted a retrospective analysis of 25 patients with genetically proven autosomal dominant Alport syndrome and their family members (a total of 72 patients) from 16 unrelated families. Patients with suspected Alport syndrome after pathologic examination who were referred from anywhere in Japan for genetic analysis from 2006 to 2015 were included in this study. Clinical, laboratory, and pathologic data were collected from medical records at the point of registration for genetic diagnosis. Genetic analysis was performed by targeted resequencing of 27 podocyte-related genes, including Alport–related collagen genes, to make a diagnosis of autosomal dominant Alport syndrome and identify modifier genes or double mutations. Clinical data were obtained from medical records. Results The median renal survival time was 70 years, and the median age at first detection of proteinuria was 17 years old. There was one patient with hearing loss and one patient with ocular lesion. Among 16 patients who underwent kidney biopsy, three showed FSGS, and seven showed thinning without lamellation of the glomerular basement membrane. Five of 13 detected mutations were reported to be causative mutations for autosomal recessive Alport syndrome in previous studies. Two families possessed double mutations in both collagen 4A3 and collagen 4A4, but no modifier genes were detected among the other podocyte–related genes. Conclusions The renal phenotype of autosomal dominant Alport syndrome was much milder than that of autosomal recessive

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

PubMed

Kamiyoshi, Naohiro; Nozu, Kandai; Fu, Xue Jun; Morisada, Naoya; Nozu, Yoshimi; Ye, Ming Juan; Imafuku, Aya; Miura, Kenichiro; Yamamura, Tomohiko; Minamikawa, Shogo; Shono, Akemi; Ninchoji, Takeshi; Morioka, Ichiro; Nakanishi, Koichi; Yoshikawa, Norishige; Kaito, Hiroshi; Iijima, Kazumoto

2016-08-08

Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, and ocular abnormalities. Autosomal dominant Alport syndrome caused by heterozygous mutations in collagen 4A3 and/or collagen 4A4 accounts for <5% of patients. However, the clinical, genetic, and pathologic backgrounds of patients with autosomal dominant Alport syndrome remain unclear. We conducted a retrospective analysis of 25 patients with genetically proven autosomal dominant Alport syndrome and their family members (a total of 72 patients) from 16 unrelated families. Patients with suspected Alport syndrome after pathologic examination who were referred from anywhere in Japan for genetic analysis from 2006 to 2015 were included in this study. Clinical, laboratory, and pathologic data were collected from medical records at the point of registration for genetic diagnosis. Genetic analysis was performed by targeted resequencing of 27 podocyte-related genes, including Alport-related collagen genes, to make a diagnosis of autosomal dominant Alport syndrome and identify modifier genes or double mutations. Clinical data were obtained from medical records. The median renal survival time was 70 years, and the median age at first detection of proteinuria was 17 years old. There was one patient with hearing loss and one patient with ocular lesion. Among 16 patients who underwent kidney biopsy, three showed FSGS, and seven showed thinning without lamellation of the glomerular basement membrane. Five of 13 detected mutations were reported to be causative mutations for autosomal recessive Alport syndrome in previous studies. Two families possessed double mutations in both collagen 4A3 and collagen 4A4, but no modifier genes were detected among the other podocyte-related genes. The renal phenotype of autosomal dominant Alport syndrome was much milder than that of autosomal recessive Alport syndrome or X-linked Alport syndrome in men. It may, thus, be difficult to make an

Alfred Russel Wallace's world of final causes.

PubMed

Smith, Charles H

2013-12-01

Alfred Russel Wallace (1823-1913) is an important figure in the history of science, but there remain many questions about the nature of his world view, and how it developed. Here, Wallace's appreciation of the role of final causes in evolution is linked to some of its probable origins, with an emphasis on the influence of Alexander von Humboldt (1769-1859). The question is then asked whether a final causes-based scientific agenda might be possible, and answered by drawing attention to two current efforts in that direction by Adrian Bejan, and by the author. A sketch of the latter approach, adapted from Spinozian thinking, is given, with an empirical example involving drainage basin morphology that suggests structural influences of a final causes sort.

Silver Nanoparticles

NASA Astrophysics Data System (ADS)

Khaydarov, R. R.; Khaydarov, R. A.; Estrin, Y.; Evgrafova, S.; Scheper, T.; Endres, C.; Cho, S. Y.

The bactericidal effect of silver nanoparticles obtained by a novel electrochemical method on Escherichia coli, Staphylococcus aureus, Aspergillus niger and Penicillium phoeniceum cultures has been studied. The tests conducted have demonstrated that synthesized silver nanoparticles — when added to water paints or cotton fabrics — show a pronounced antibacterial/antifungal effect. It was shown that smaller silver nanoparticles have a greater antibacterial/antifungal efficacy. The paper also provides a review of scientific literature with regard to recent developments in the field of toxicity of silver nanoparticles and its effect on environment and human health.

Electrodiagnostic findings in a patient with Waardenburg syndrome.

PubMed

Ahmed, Aiesha; Simmons, Zachary

2009-09-01

Waardenburg syndrome is associated with a variety of clinical features, which may include polyneuropathy. We describe a patient with Waardenburg syndrome type 2 and provide detailed electrodiagnostic findings, thus complementing the biopsy data and brief descriptions of nerve conduction studies found in the literature.

Visualizing, Rather than Deriving, Russell-Saunders Terms: A Classroom Activity with Quantum Numbers

ERIC Educational Resources Information Center

Coppo, Paolo

2016-01-01

A 1 h classroom activity is presented, aimed at consolidating the concepts of microstates and Russell-Saunders energy terms in transition metal atoms and coordination complexes. The unconventional approach, based on logic and intuition rather than rigorous mathematics, is designed to stimulate discussion and enhance familiarity with quantum…

[Fournier syndrome: the perception of the patient].

PubMed

Cavalini, Fernanda; Moriya, Tokico Murakawa; Pelá, Nilza Teresa Rotter

2002-06-01

The purpose of the present investigation was to identify the perception of the Fournier syndrome's patients about their disease and caregivers. Data was collected by means of interviews with a structured routine and the analysis was based on the André's analysis of prose. According to the patients, the syndrome causes intense pain, edema, fever and wounds, demanding surgical treatment, dressings and bringing physical, economical and familiar problems. The caregivers' attitudes and behaviors were described as having more negative aspects than good ones. The necessity of a better training of the caregivers in the cognitive, psychomotor and affective sense is evident.

Astronaut Russell Schweickart inside simulator for EVA training

NASA Image and Video Library

1968-12-11

S68-55391 (11 Dec. 1968) --- Astronaut Russell L. Schweickart, lunar module pilot of the Apollo 9 (Spacecraft 104/Lunar Module 3/Saturn 504) space mission, is seen inside Chamber "A," Space Environment Simulation Laboratory, Building 32, participating in dry run activity in preparation for extravehicular activity which is scheduled in Chamber "A." The purpose of the scheduled training is to familiarize the crewmen with the operation of EVA equipment in a simulated space environment. In addition, metabolic and workload profiles will be simulated on each crewman. Astronauts Schweickart and Alan L. Bean, backup lunar module pilot, are scheduled to receive thermal-vacuum training simulating Earth-orbital EVA.

Engineered Escherichia coli Silver-Binding Periplasmic Protein That Promotes Silver Tolerance

PubMed Central

Hall Sedlak, Ruth; Hnilova, Marketa; Grosh, Carolynn; Fong, Hanson; Baneyx, Francois; Schwartz, Dan; Sarikaya, Mehmet; Tamerler, Candan

2012-01-01

Silver toxicity is a problem that microorganisms face in medical and environmental settings. Through exposure to silver compounds, some bacteria have adapted to growth in high concentrations of silver ions. Such adapted microbes may be dangerous as pathogens but, alternatively, could be potentially useful in nanomaterial-manufacturing applications. While naturally adapted isolates typically utilize efflux pumps to achieve metal resistance, we have engineered a silver-tolerant Escherichia coli strain by the use of a simple silver-binding peptide motif. A silver-binding peptide, AgBP2, was identified from a combinatorial display library and fused to the C terminus of the E. coli maltose-binding protein (MBP) to yield a silver-binding protein exhibiting nanomolar affinity for the metal. Growth experiments performed in the presence of silver nitrate showed that cells secreting MBP-AgBP2 into the periplasm exhibited silver tolerance in a batch culture, while those expressing a cytoplasmic version of the fusion protein or MBP alone did not. Transmission electron microscopy analysis of silver-tolerant cells revealed the presence of electron-dense silver nanoparticles. This is the first report of a specifically engineered metal-binding peptide exhibiting a strong in vivo phenotype, pointing toward a novel ability to manipulate bacterial interactions with heavy metals by the use of short and simple peptide motifs. Engineered metal-ion-tolerant microorganisms such as this E. coli strain could potentially be used in applications ranging from remediation to interrogation of biomolecule-metal interactions in vivo. PMID:22286990

Screening test for direct oral anticoagulants with the dilute Russell viper venom time.

PubMed

Pratt, Jackie; Crispin, Philip

2018-06-01

To evaluate the dilute Russell viper venom time (DRVVT) for the detection of direct-acting oral anticoagulants (DOACs) and to investigate the effect of DOACS on coagulation assays. Patients with DOACs and controls had plasma levels determined by an anti-Xa assay and dilute thrombin clotting time (TCT). Levels were correlated with the DRVVT as well as TCT, prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, protein C, protein S and antithrombin levels. The utility of the DRVVT for detecting clinically significant levels of DOACs was evaluated. There were 44 samples from patients taking dabigatran, 83 with rivaroxaban, 18 with apixaban and 55 controls. The PT and APTT failed to detect clinically significant doses of anticoagulants adequately. The TCT was increased in patients taking dabigatran and normal in controls and patients on FXa inhibitors. There was a linear correlation with all DOAC levels and the DRVVT, with moderate precision, but it showed high sensitivity (95%) and specificity (90%) for clinically significant DOAC levels. The DRVVT detects clinically significant levels of DOACs and, in conjunction with the TCT, may be used as a screen for the presence and type of DOAC. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Antituberculous effect of silver nanoparticles

NASA Astrophysics Data System (ADS)

Kreytsberg, G. N.; Gracheva, I. E.; Kibrik, B. S.; Golikov, I. V.

2011-04-01

The in vitro experiment, involving 1164 strains of the tuberculosis mycobacteria, exhibited a potentiating effect of silver nanoparticles on known antituberculous preparations in respect of overcoming drug-resistance of the causative agent. The in vitro experiment, based on the model of resistant tuberculosis, was performed on 65 white mice. An evident antituberculous effect of the nanocomposite on the basis of silver nanoparticles and isoniazid was proved. Toxicological assessment of the of nanopreparations was carried out. The performed research scientifically establishes efficacy and safety of the nanocomposite application in combination therapy of patients suffering from drug-resistant tuberculosis.

Cochlear hearing loss in patients with Laron syndrome.

PubMed

Attias, Joseph; Zarchi, Omer; Nageris, Ben I; Laron, Zvi

2012-02-01

The aim of this prospective clinical study was to test auditory function in patients with Laron syndrome, either untreated or treated with insulin-like growth factor I (IGF-I). The study group consisted of 11 patients with Laron syndrome: 5 untreated adults, 5 children and young adults treated with replacement IGF-I starting at bone age <2 years, and 1 adolescent who started replacement therapy at bone age 4.6 years. The auditory evaluation included pure tone and speech audiometry, tympanometry and acoustic reflexes, otoacoustic emissions, loudness dynamics, auditory brain stem responses and a hyperacusis questionnaire. All untreated patients and the patient who started treatment late had various degrees of sensorineural hearing loss and auditory hypersensitivity; acoustic middle ear reflexes were absent in most of them. All treated children had normal hearing and no auditory hypersensitivity; most had recordable middle ear acoustic reflexes. In conclusion, auditory defects seem to be associated with Laron syndrome and may be prevented by starting treatment with IGF-I at an early developmental age.

Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome.

PubMed

Kratz, C P; Holter, S; Etzler, J; Lauten, M; Pollett, A; Niemeyer, C M; Gallinger, S; Wimmer, K

2009-06-01

Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect, we refer to this syndrome as constitutional mismatch repair-deficiency (CMMR-D) syndrome. The tumour spectrum of CMMR-D syndrome includes haematological neoplasias, brain tumours and Lynch syndrome-associated tumours. Other tumours, such as neuroblastoma, Wilm tumour, ovarian neuroectodermal tumour or infantile myofibromatosis, have so far been found only in individual cases. We analysed two consanguineous families that had members with suspected CMMR-D syndrome who developed rhabdomyosarcoma among other neoplasias. In the first family, we identified a pathogenic PMS2 mutation for which the affected patient was homozygous. In family 2, immunohistochemistry analysis showed isolated loss of PMS2 expression in all tumours in the affected patients, including rhabdomyosarcoma itself and the surrounding normal tissue. Together with the family history and microsatellite instability observed in one tumour this strongly suggests an underlying PMS2 alteration in family 2 also. Together, these two new cases show that rhabdomyosarcoma and possibly other embryonic tumours, such as neuroblastoma and Wilm tumour, belong to the tumour spectrum of CMMR-D syndrome. Given the clinical overlap of CMMR-D syndrome with NF1, we suggest careful examination of the family history in patients with embryonic tumours and signs of NF1 as well as analysis of the tumours for loss of one of the mismatch repair genes and microsatellite instability. Subsequent mutation analysis will lead to a definitive diagnosis of the underlying disorder.

Serum Progranulin Levels in Type 2 Diabetic Patients with Metabolic Syndrome.

PubMed

Shafaei, Azam; Marjani, Abdoljalal; Khoshnia, Masoud

2016-12-01

The role of progranulin in individuals with metabolic syndrome is not exactly clear.We aimed to assess the serum level of progranulin in type 2 diabetic patients with and without metabolic syndrome and compare them with healthy controls. The study included 60 patients with type 2 diabetes and 30 healthy individuals as control groups. Biochemical parameters and progranulin levels were determined. Subjects with metabolic syndrome showed significantly higher levels of triglyceride, waist circumference, BMI, systolic and diastolic blood pressure than subjects without metabolic syndrome and the control groups, while HDL-cholesterol level was significantly lower in subjects with metabolic syndrome. Fasting blood sugar was significantly higher in type 2 diabetic patients than in the control groups. Serum level of progranulin was slightly increased in subjects with metabolic syndrome. Serum progranulin level had no significant relationship with metabolic syndrome components. Serum progranulin was also not dependent on cardiometabolic risk factors for subjects with metabolic syndrome, but it could be considered for the management of type 2 diabetes mellitus. Further studies are recommended to explain the effect of progranulin on the pathogenesis of metabolic risk factors.

Anaesthesiological considerations in patients with Sneddon's syndrome.

PubMed

Heesen, M; Rossaint, R

2000-01-01

Sneddon's syndrome is a rare disease with strong gender prevalence of females. This syndrome is characterized by livedo racemosa and cerebrovascular lesions. Since no specific test is available, the clinical differentiation from other disorders with similar symptomatology may raise difficulties. The cerebral involvement includes strokes with cases of more than one ischaemic event having been reported. Associations with convulsions, heart valve disease, systemic hypertension, and renal impairment have been described. We report the case of a 5-year-old boy who was anaesthesized for dental surgery. Due to the fact that 50% of Sneddon's syndrome patients develop mental retardation, even minor procedures require general anaesthesia. A review of the literature is added and specific anaesthesiological aspects of the perioperative care of Sneddon's syndrome are discussed.

Reduced Apolipoprotein Glycosylation in Patients with the Metabolic Syndrome

PubMed Central

Savinova, Olga V.; Fillaus, Kristi; Jing, Linhong; Harris, William S.; Shearer, Gregory C.

2014-01-01

Objective The purpose of this study was to compare the apolipoprotein composition of the three major lipoprotein classes in patients with metabolic syndrome to healthy controls. Methods Very low density (VLDL), intermediate/low density (IDL/LDL, hereafter LDL), and high density lipoproteins (HDL) fractions were isolated from plasma of 56 metabolic syndrome subjects and from 14 age-sex matched healthy volunteers. The apolipoprotein content of fractions was analyzed by one-dimensional (1D) gel electrophoresis with confirmation by a combination of mass spectrometry and biochemical assays. Results Metabolic syndrome patients differed from healthy controls in the following ways: (1) total plasma - apoA1 was lower, whereas apoB, apoC2, apoC3, and apoE were higher; (2) VLDL - apoB, apoC3, and apoE were increased; (3) LDL - apoC3 was increased, (4) HDL -associated constitutive serum amyloid A protein (SAA4) was reduced (p<0.05 vs. controls for all). In patients with metabolic syndrome, the most extensively glycosylated (di-sialylated) isoform of apoC3 was reduced in VLDL, LDL, and HDL fractions by 17%, 30%, and 25%, respectively (p<0.01 vs. controls for all). Similarly, the glycosylated isoform of apoE was reduced in VLDL, LDL, and HDL fractions by 15%, 26%, and 37% (p<0.01 vs. controls for all). Finally, glycosylated isoform of SAA4 in HDL fraction was 42% lower in patients with metabolic syndrome compared with controls (p<0.001). Conclusions Patients with metabolic syndrome displayed several changes in plasma apolipoprotein composition consistent with hypertriglyceridemia and low HDL cholesterol levels. Reduced glycosylation of apoC3, apoE and SAA4 are novel findings, the pathophysiological consequences of which remain to be determined. PMID:25118169

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

PubMed

Alfei, Enrico; Raviglione, Federico; Franceschetti, Silvana; D'Arrigo, Stefano; Milani, Donatella; Selicorni, Angelo; Riva, Daria; Zuffardi, Orsetta; Pantaleoni, Chiara; Binelli, Simona

2014-12-01

Epilepsy is one of the most common findings in chromosome aberrations. Types of seizures and severity may significantly vary both between different conditions and within the same aberration. Hitherto specific seizures and EEG patterns are identified for only few syndromes. We studied 74 patients with defined genetic-dysmorphic syndromes with and without epilepsy in order to assess clinical and electroencephalographic features, to compare our observation with already described electro-clinical phenotypes, and to identify putative electroencephalographic and/or seizure characteristics useful to address the diagnosis. In our population, 10 patients had chromosomal disorders, 19 microdeletion or microduplication syndromes, and 32 monogenic syndromes. In the remaining 13, syndrome diagnosis was assessed on clinical grounds. Our study confirmed the high incidence of epilepsy in genetic-dysmorphic syndromes. Moreover, febrile seizures and neonatal seizures had a higher incidence compared to general population. In addition, more than one third of epileptic patients had drug-resistant epilepsy. EEG study revealed poor background organization in 42 patients, an excess of diffuse rhythmic activities in beta, alpha or theta frequency bands in 34, and epileptiform patterns in 36. EEG was completely normal only in 20 patients. No specific electro-clinical pattern was identified, except for inv-dup15, Angelman, and Rett syndromes. Nevertheless some specific conditions are described in detail, because of notable differences from what previously reported. Regarding the diagnostic role of EEG, we found that--even without any epileptiform pattern--the generation of excessive rhythmic activities in different frequency bandwidths might support the diagnosis of a genetic syndrome. © 2014 Wiley Periodicals, Inc.

[Intensive therapy for patients with Guillian-Barré syndrome].

PubMed

Buus, Lone; Tønnesen, Else K

2014-10-13

Guillain-Barré syndrome is the leading cause of acute flaccid paralysis in the industrialized world. Approximately 25% of the patients suffering from Guillain-Barré syndrome develop respiratory failure requiring mechanical ventilation and intensive therapy. We seek answers to when it is optimal to start respiratory supportive therapy and review various complications associated with Guillain-Barré syndrome.

Mutations in Epilepsy and Intellectual Disability Genes in Patients with Features of Rett Syndrome

PubMed Central

Olson, Heather E.; Tambunan, Dimira; LaCoursiere, Christopher; Goldenberg, Marti; Pinsky, Rebecca; Martin, Emilie; Ho, Eugenia; Khwaja, Omar; Kaufmann, Walter E.; Poduri, Annapurna

2017-01-01

Rett syndrome and neurodevelopmental disorders with features overlapping this syndrome frequently remain unexplained in patients without clinically identified MECP2 mutations. We recruited a cohort of 11 patients with features of Rett syndrome and negative initial clinical testing for mutations in MECP2. We analyzed their phenotypes to determine whether patients met formal criteria for Rett syndrome, reviewed repeat clinical genetic testing, and performed exome sequencing of the probands. Using 2010 diagnostic criteria, three patients had classical Rett syndrome, including two for whom repeat MECP2 gene testing had identified mutations. In a patient with neonatal onset epilepsy with atypical Rett syndrome, we identified a frameshift deletion in STXBP1. Among seven patients with features of Rett syndrome not fulfilling formal diagnostic criteria, four had suspected pathogenic mutations, one each in MECP2, FOXG1, SCN8A, and IQSEC2. MECP2 mutations are highly correlated with classical Rett syndrome. Genes associated with atypical Rett syndrome, epilepsy, or intellectual disability should be considered in patients with features overlapping with Rett syndrome and negative MECP2 testing. While most of the identified mutations were apparently de novo, the SCN8A variant was inherited from an unaffected parent mosaic for the mutation, which is important to note for counseling regarding recurrence risks. PMID:25914188

Prevalence of fibromyalgia syndrome in migraine patients.

PubMed

Ifergane, G; Buskila, D; Simiseshvely, N; Zeev, K; Cohen, H

2006-04-01

Fibromyalgia syndrome (FMS) is a chronic pain syndrome of unknown aetiology characterized by diffuse pain over more than 3 months and tenderness in specific sites named tender points. The aim of this study was to assess the prevalence and severity of FMS among patients suffering from episodic migraine. Ninety-two consecutive patients (20 male, 72 female) fulfilling the International Headache Society criteria for migraine with and without aura from a tertiary headache clinic were evaluated. A headache and generalized pain history was recorded, tender points were evaluated by thumb palpation. The diagnosis of FMS was made based on the 1990 American College of Rheumatology classification criteria for FMS. Sixteen (22.2%) of the female patients and none of the male patients were diagnosed as suffering from FMS. Migraine severity and characteristics were similar to other female migraine patients. Patients suffering from migraine-FMS had lower quality of life scores and higher levels of mental distress. A high incidence of FMS was found among female migraine patients but not in males. The coexistence of FMS should be considered when choosing a prophylactic migraine therapy.

Silver sub-nanoclusters electrocatalyze ethanol oxidation and provide protection against ethanol toxicity in cultured mammalian cells.

PubMed

Selva, Javier; Martínez, Susana E; Buceta, David; Rodríguez-Vázquez, María J; Blanco, M Carmen; López-Quintela, M Arturo; Egea, Gustavo

2010-05-26

Silver atomic quantum clusters (AgAQCs), with two or three silver atoms, show electrocatalytic activities that are not found in nanoparticles or in bulk silver. AgAQCs supported on glassy carbon electrodes oxidize ethanol and other alcohols in macroscopic electrochemical cells in acidic and basic media. This electrocatalysis occurs at very low potentials (from approximately +200 mV vs RHE), at physiological pH, and at ethanol concentrations that are found in alcoholic patients. When mammalian cells are co-exposed to ethanol and AgAQCs, alcohol-induced alterations such as rounded cell morphology, disorganization of the actin cytoskeleton, and activation of caspase-3 are all prevented. This cytoprotective effect of AgAQCs is also observed in primary cultures of newborn rat astrocytes exposed to ethanol, which is a cellular model of fetal alcohol syndrome. AgAQCs oxidize ethanol from the culture medium only when ethanol and AgAQCs are added to cells simultaneously, which suggests that cytoprotection by AgAQCs is provided by the ethanol electro-oxidation mediated by the combined action of AgAQCs and cells. Overall, these findings not only show that AgAQCs are efficient electrocatalysts at physiological pH and prevent ethanol toxicity in cultured mammalian cells, but also suggest that AgAQCs could be used to modify redox reactions and in this way promote or inhibit biological reactions.

Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment.

PubMed

Salinas-Torres, Victor M

2015-07-01

In 1981, Say and Meyer described a seemingly X-linked recessive syndrome of trigonocephaly, short stature, and developmental delay. Here, I present a new patient and review eight patients from the literature examining the nature and phenotypic differences. A Mexican 10-year-old boy with Say-Meyer syndrome is described. Additionally, he had C6 vertebral right pedicle agenesis, brachymesophalangy of the fifth fingers, bilateral widening of Sylvian fissure, and white matter amplitude as novel observed findings of the syndrome. This appears to be the first Say-Meyer syndrome patient with extracranial skeletal anomalies. In light of these manifestations, a detailed comparative phenotypic analysis of published patients revealed a heterogeneous syndrome with a significant clinical variability. Moreover, increasing evidence points to a variable expressivity of the same autosomal dominant mutation. Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, seizures, and cardiovascular abnormalities.

Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome.

PubMed

Nair, Sushmita; Fort, John A; Yachnis, Anthony T; Williams, Charles A

2015-06-01

Noonan syndrome (NS; MIM 163950) is an autosomal dominant syndrome which is clinically diagnosed by the distinct facial features, short stature, cardiac anomalies and developmental delay. About 50% of cases are associated with gain of function mutations in PTPN11 gene which leads to activation of the RAS/mitogen-activated protein kinase signaling pathway. This is known to have a role in tumorigenesis. Despite this, only limited reports of solid tumors (Fryssira H, Leventopoulos G, Psoni S, et al. Tumor development in three patients with Noonan syndrome. Eur J Pediatr 2008;167:1025-1031; Schuettpelz LG, McDonald S, Whitesell K et al. Pilocytic astrocytoma in a child with Noonan syndrome. Pediatr Blood Cancer 2009;53:1147-1149; Sherman CB, Ali-Nazir A, Gonzales-Gomez I, et al. Primary mixed glioneuronal tumor of the central nervous system in a patient with Noonan syndrome. J Pediatr Hematol Oncol 2009;31:61-64; Sanford RA, Bowman R, Tomita T, et al. A 16 year old male with Noonan's syndrome develops progressive scoliosis and deteriorating gait. Pediatr Neurosurg 1999;30:47-52) and no prior reports of optic gliomas have been described in patients with NS. We present here a patient with NS with a PTPN11 mutation and an optic pathway pilomyxoid astrocytoma. © 2015 Wiley Periodicals, Inc.

Hubbard Glacier, Alaska: growing and advancing in spite of global climate change and the 1986 and 2002 Russell Lake outburst floods

USGS Publications Warehouse

Trabant, Dennis C.; March, Rod S.; Thomas, Donald S.

2003-01-01

Hubbard Glacier, the largest calving glacier on the North American Continent (25 percent larger than Rhode Island), advanced across the entrance to 35-mile-long Russell Fiord during June 2002, temporarily turning it into a lake. Hubbard Glacier has been advancing for more than 100 years and has twice closed the entrance to Russell Fiord during the last 16 years by squeezing and pushing submarine glacial sediments across the mouth of the fiord. Water flowing into the cutoff fiord from mountain streams and glacier melt causes the level of Russell Lake to rise. However, both the 1986 and 2002 dams failed before the lake altitude rose enough for water to spill over a low pass at the far end of the fiord and enter the Situk River drainage, a world-class sport and commercial fishery near Yakutat, Alaska.

Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

PubMed

Choi, Jin-Ho; Oh, Moon-Yeon; Yum, Mi-Sun; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

2015-03-01

Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. A 6-year-old girl was diagnosed with Noonan-like syndrome with loose anagen hair because of profound short stature and ectodermal anomalies such as sparse and easily pluckable hair. A heterozygous mutation of c.4A>G (p.S2G) in the SHOC2 gene was identified, and recombinant human growth hormone therapy was initiated at 8 years of age. At age 10, she manifested recurrent left hemiplegia. Moreover, cerebrovascular imaging revealed occlusion or narrowing of both internal carotid arteries and both middle cerebral arteries with distal moyamoya-like vessels. She is treated with aspirin and calcium channel blocker. We describe the first case of Noonan-like syndrome with loose anagen hair associated with moyamoya syndrome, although it has been reported to be associated with a few cases of other RASopathies, including Noonan, cardiofaciocutaneous, and Costello syndromes. This report emphasizes the associations between cerebrovascular anomalies and Noonan-like syndrome with loose anagen hair. Copyright © 2015 Elsevier Inc. All rights reserved.

Leaching of Silver from Silver-Impregnated Food Storage Containers

ERIC Educational Resources Information Center

Hauri, James F.; Niece, Brian K.

2011-01-01

The use of silver in commercial products has proliferated in recent years owing to its antibacterial properties. Food containers impregnated with micro-sized silver promise long food life, but there is some concern because silver can leach out of the plastic and into the stored food. This laboratory experiment gives students the opportunity to…

Work ability index, absenteeism and depression among patients with burnout syndrome.

PubMed

Pranjic, Nurka; Males-Bilic, Ljiljana

2014-08-01

The aim of this study is to estimate the association of burnout syndrome and depression; burnout syndrome and sick leave; and burnout syndrome with Work Ability Index in patients who suffer from stress at work. The control clinical study was conducted in the Teaching Department for Professional Pathology and Toxicology at the Primary Health Care Center Tuzla in the period from 2009 to 2014. The study included 140 patients exposed to different levels of stress at work. Besides conducted interviews and anamnesis with working anamnesis, physical examination, all patients were subjected to diagnostic package of questionnaires for assessing exposure to stress at work and its effects on health and work ability and Hamilton Rating Scale for screening depression. All patients were referred to the Department with suspected distress and burnout syndrome. For this study we used a questionnaire for measuring intensity of burnout (two categories exclude suffering from burnout syndrome: successfully overcome stress at work and sometimes feel stress at work and the other two reveal the initial and very high burn-out syndrome. Studied group was consisted of patients categorized with burnout syndrome (n=88). The questionnaire on the Work Ability Index (WAI) estimated characteristics of sick leave and prognostic factors with current work ability index. Lack of support at work with poor personal relations is the most common factor with the mobbing in burnout syndrome. Significantly more patients with the burnout syndrome suffered very severe depression 49%:37%; more use long sick leaves 53%:21%; several of them have poor WAI 51%:31% compared to those who are only exposed to stress at work (p=0.001). We found that the burn-out syndrome is predictor for developing depression (β=0.312, 95% CI, 0.114-0.353, p=0.001); absenteeism (β=0.285, 95% CI, 0.093-0.334, p=0.001); and a decline in working ability (β=0.413, 95% CI, 0.297-0.648). All the patients in whom it is found burnout

Distribution of silver in rats following 28 days of repeated oral exposure to silver nanoparticles or silver acetate

PubMed Central

2011-01-01

Background The study investigated the distribution of silver after 28 days repeated oral administration of silver nanoparticles (AgNPs) and silver acetate (AgAc) to rats. Oral administration is a relevant route of exposure because of the use of silver nanoparticles in products related to food and food contact materials. Results AgNPs were synthesized with a size distribution of 14 ± 4 nm in diameter (90% of the nanoparticle volume) and stabilized in aqueous suspension by the polymer polyvinylpyrrolidone (PVP). The AgNPs remained stable throughout the duration of the 28-day oral toxicity study in rats. The organ distribution pattern of silver following administration of AgNPs and AgAc was similar. However the absolute silver concentrations in tissues were lower following oral exposure to AgNPs. This was in agreement with an indication of a higher fecal excretion following administration of AgNPs. Besides the intestinal system, the largest silver concentrations were detected in the liver and kidneys. Silver was also found in the lungs and brain. Autometallographic (AMG) staining revealed a similar cellular localization of silver in ileum, liver, and kidney tissue in rats exposed to AgNPs or AgAc. Using transmission electron microscopy (TEM), nanosized granules were detected in the ileum of animals exposed to AgNPs or AgAc and were mainly located in the basal lamina of the ileal epithelium and in lysosomes of macrophages within the lamina propria. Using energy dispersive x-ray spectroscopy it was shown that the granules in lysosomes consisted of silver, selenium, and sulfur for both AgNP and AgAc exposed rats. The diameter of the deposited granules was in the same size range as that of the administered AgNPs. No silver granules were detected by TEM in the liver. Conclusions The results of the present study demonstrate that the organ distribution of silver was similar when AgNPs or AgAc were administered orally to rats. The presence of silver granules containing

Imprinting Disorders and Assisted Reproductive Technology

PubMed Central

Owen, Carter M.; Segars, James H.

2009-01-01

Worldwide use of assisted reproductive technology (ART) accounts for an estimated 1 to 3% of births. Since 2002, a series of reports have suggested an increased risk of imprinting disorders (Beckwith-Wiedemann syndrome and Angelman syndrome) in children conceived by ART. Definitive conclusions are difficult to substantiate due to the rarity of imprinting disorders and the variability in ART protocols. Despite these limitations, there is biological plausibility for alteration in nongenomic inheritance caused by ART. Animal studies have shown that ART procedures can alter normal imprinting, specifically DNA methylation patterns. Collectively, studies suggest an association between ART and loss of maternal methylation. More recent reports examined a possible association between ART and global hypomethylation of DNA. Three other imprinting disorders (Silver-Russell syndrome, maternal hypomethylation syndrome, and retinoblastoma) have also been implicated, but there is insufficient evidence to establish an association of these syndromes with ART. Based on current evidence, the absolute risk of imprinting disorders after ART remains small and does not warrant routine screening. Large prospective studies are needed to better understand the risks associated with imprinting disorders, imprinting defects, and ART. PMID:19711252

Dental management of patient with Williams Syndrome - A case report.

PubMed

Wong, Daniel; Ramachandra, Srinivas Sulugodu; Singh, Ashish Kumar

2015-01-01

Williams syndrome is a multisystemic rare genetic disorder caused by deletion of 26-28 genes in the long arm of chromosome 7. It is characterized by developmental and physical abnormalities including congenital cardiovascular abnormalities, mental retardation, neurological features, growth deficiency, genitourinary manifestations, gastrointestinal problems, musculoskeletal problems, unique behavioral characteristics, and dental problems. Dental abnormalities include malocclusion, hypodontia, malformed teeth, taurodontism, pulp stones, increased space between teeth, enamel hypoplasia, and high prevalence of dental caries. Authors report a 17-year-old female patient with underlying Williams syndrome. Oral features and problems seen in the patient are listed. Malocclusion and screwdriver shaped teeth were noticed. Generalized widening of the periodontal ligament space with vital teeth was seen. This finding has not been reported in cases of Williams syndrome earlier. Precautions taken during dental treatment in patients with Williams syndrome are also discussed.

The Serum Analysis of Dampness Syndrome in Patients with Coronary Heart Disease and Chronic Renal Failure Based on the Theory of "Same Syndromes in Different Diseases".

PubMed

Hao, Yiming; Yuan, Xue; Qian, Peng; Bai, Guanfeng; Wang, Yiqin

2017-01-01

To analyze the serum metabolites in patients with coronary heart disease (CHD) showing dampness syndrome and patients with chronic renal failure (CRF) showing dampness syndrome and to seek the substance that serves as the underlying basis of dampness syndrome in "same syndromes in different diseases." Methods . Metabolic spectrum by GC-MS was performed using serum samples from 29 patients with CHD showing dampness syndrome and 32 patients with CRF showing dampness syndrome. The principal component analysis and statistical analysis of partial least squares were performed to detect the metabolites with different levels of expression in patients with CHD and CRF. Furthermore, by comparing the VIP value and data mining in METLIN and HMDB, we identified the common metabolites in both patient groups. (1) Ten differential metabolites were found in patients with CHD showing dampness syndrome when compared to healthy subjects. Meanwhile, nine differential metabolites were found in patients with CRF showing dampness syndrome when compared to healthy subjects. (2) There were 9 differential metabolites identified when the serum metabolites of the CHD patients with dampness syndrome were compared to those of CRF patients with dampness syndrome. There were 4 common metabolites found in the serums of both patient groups.

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.

PubMed

Maas, S M; Lombardi, M P; van Essen, A J; Wakeling, E L; Castle, B; Temple, I K; Kumar, V K A; Writzl, K; Hennekam, Raoul C M

2009-10-01

Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome. A series of 17 patients with Goltz-Gorlin syndrome is reported on, and their phenotype and genotype are described. In 14 patients (13 females and one male), a PORCN mutation was found. Mutations included nonsense (n = 5), frameshift (n = 2), aberrant splicing (n = 2) and missense (n = 5) mutations. No genotype-phenotype correlation was found. All patients with the classical features of the syndrome had a detectable mutation. In three females with atypical signs, no mutation was found. The male patient had classical features and showed mosaicism for a PORCN nonsense mutation in fibroblasts. Two affected sisters had a mutation not detectable in their parents, supporting germline mosaicism. Their father had undergone radiation for testicular cancer in the past. Two classically affected females had three severely affected female fetuses which all had midline thoracic and abdominal wall defects, resembling the pentalogy of Cantrell and the limb-body wall complex. Thoracic and abdominal wall defects were also present in two surviving patients. PORCN mutations can possibly cause pentalogy of Cantrell and limb-body wall complexes as well. Therefore, particularly in cases with limb defects, it seems useful to search for these. PORCN mutations can be found in all classically affected cases of Goltz-Gorlin syndrome, including males. Somatic and germline mosaicism occur. There is no evident genotype-phenotype correlation.

Theory of mind in Asperger's syndrome, schizophrenia and personality disordered forensic patients.

PubMed

Murphy, David

2006-03-01

The ability to conceptualise other individuals' mental states is dependent on having a 'theory of mind' (ToM). Individuals with Asperger's syndrome typically display ToM impairments, as do some individuals with schizophrenia, notably those with paranoid delusions. The presenting features of these and other individuals, such as those with some personality disorders, particularly in forensic patients, are often unclear. ToM performance was examined to see whether it could distinguish forensic patients with Asperger's syndrome from other patient groups. The performance of three male patient groups (N = 39) detained in high security psychiatric care, including those with Asperger's syndrome, schizophrenia (with paranoid delusions and/or auditory hallucinations as their predominant symptoms), or a dissocial and/or borderline personality disorder were compared using the revised eyes task and the modified advanced ToM test. The Asperger's syndrome and schizophrenia groups performed significantly worse than the personality disorder group on both ToM measures. However, the Asperger's syndrome and the personality disorder groups had significantly higher levels of general intellectual functioning than the schizophrenia group. Whilst ToM performance may help to discriminate patients with Asperger's syndrome or schizophrenia from personality disorder ed patients, a wide range in performance made it difficult to specify a patient to a particular group. Theoretical and methodological issues are discussed along with the usefulness of ToM assessments with forensic patients.

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

PubMed

Olson, Heather E; Tambunan, Dimira; LaCoursiere, Christopher; Goldenberg, Marti; Pinsky, Rebecca; Martin, Emilie; Ho, Eugenia; Khwaja, Omar; Kaufmann, Walter E; Poduri, Annapurna

2015-09-01

Rett syndrome and neurodevelopmental disorders with features overlapping this syndrome frequently remain unexplained in patients without clinically identified MECP2 mutations. We recruited a cohort of 11 patients with features of Rett syndrome and negative initial clinical testing for mutations in MECP2. We analyzed their phenotypes to determine whether patients met formal criteria for Rett syndrome, reviewed repeat clinical genetic testing, and performed exome sequencing of the probands. Using 2010 diagnostic criteria, three patients had classical Rett syndrome, including two for whom repeat MECP2 gene testing had identified mutations. In a patient with neonatal onset epilepsy with atypical Rett syndrome, we identified a frameshift deletion in STXBP1. Among seven patients with features of Rett syndrome not fulfilling formal diagnostic criteria, four had suspected pathogenic mutations, one each in MECP2, FOXG1, SCN8A, and IQSEC2. MECP2 mutations are highly correlated with classical Rett syndrome. Genes associated with atypical Rett syndrome, epilepsy, or intellectual disability should be considered in patients with features overlapping with Rett syndrome and negative MECP2 testing. While most of the identified mutations were apparently de novo, the SCN8A variant was inherited from an unaffected parent mosaic for the mutation, which is important to note for counseling regarding recurrence risks. © 2015 Wiley Periodicals, Inc.

Wernicke-Korsakoff syndrome in patients with cancer: a systematic review.

PubMed

Isenberg-Grzeda, Elie; Rahane, Sudhanshu; DeRosa, Antonio P; Ellis, Janet; Nicolson, Stephen E

2016-04-01

Wernicke-Korsakoff syndrome in patients with cancer is understudied. Much of what is known-that significant under-recognition and delays in treatment exist-comes from studies of alcohol misuse disorders or non-alcohol-related Wernicke-Korsakoff syndrome in patients. We investigated the frequency and associated features of cancer-related Wernicke-Korsakoff syndrome in the published literature. We included 90 articles reporting on 129 patients. Only 38 (30%) of 128 patients with data available exhibited the entire triad of classic features of Wernicke-Korsakoff syndrome: confusion, ataxia, and ophthalmoplegia or nystagmus. Diagnosis during life was missed altogether in 22 (17%) of 128 patients. The operational diagnostic criteria (at least two of the following: nutritional deficiency, ocular signs, cerebellar signs, and either altered mental status or mild memory impairment), which are considered more reliable than the classical triad, were used in only nine (7%) cases, yet 120 (94%) met the operational criteria for diagnosis at the time of presentation when applied retroactively. Complete recovery was reported in only 47 (36%) cases. Given that oncologists or haematologists accounted for only 17 (19%) first authors among the articles included, it is important that oncologists are aware of the risk factors for cancer-related Wernicke-Korsakoff syndrome, and that they are vigilant about diagnosing and treating the disease especially in the absence of alcohol misuse disorders. Copyright © 2016 Elsevier Ltd. All rights reserved.

[Treatment of the infected wound with exposed silver-ring vascular graft and delayed Thiersch method of skin transplant covering ].

PubMed

Nenezić, Dragoslav; Pandaitan, Simon; Ilijevski, Nenad; Matić, Predrag; Gajin, Predag; Radak, Dorde

2005-01-01

Although the incidence of prosthetic infection is low (1%-6%), the consequences (limb loss or death) are dramatic for a patient, with high mortality rate (25%-75%) and limb loss in 40%-75% of cases. In case of Szilagyi's grade III infection, standard procedure consists of the excision of prosthesis and wound debridement. Alternative method is medical treatment. This is a case report of a patient with prosthetic infection of Silver-ring graft, used for femoropopliteal reconstruction, in whom an extreme skin necrosis developed in early postoperative period. This complication was successfully treated medically. After repeated debridement and wound-packing, the wound was covered using Thiersch skin graft.

PHACE Syndrome: A Retrospective Review of 23 Patients

PubMed Central

Melnick, Laura E.; Yan, Albert C.; Licht, Daniel J.; Treat, James R.; Castelo-Soccio, Leslie

2016-01-01

We present 23 patients with PHACE syndrome showing similarities in our population with data that already exist while highlighting neurodevelopmental occurrences arising in a subset of these patients. PMID:24602045

Cardiovascular Risk Stratification in Patients with Metabolic Syndrome Without Diabetes or Cardiovascular Disease: Usefulness of Metabolic Syndrome Severity Score.

PubMed

Masson, Walter; Epstein, Teo; Huerín, Melina; Lobo, Lorenzo Martín; Molinero, Graciela; Angel, Adriana; Masson, Gerardo; Millán, Diana; De Francesca, Salvador; Vitagliano, Laura; Cafferata, Alberto; Losada, Pablo

2017-09-01

The estimated cardiovascular risk determined by the different risk scores, could be heterogeneous in patients with metabolic syndrome without diabetes or vascular disease. This risk stratification could be improved by detecting subclinical carotid atheromatosis. To estimate the cardiovascular risk measured by different scores in patients with metabolic syndrome and analyze its association with the presence of carotid plaque. Non-diabetic patients with metabolic syndrome (Adult Treatment Panel III definition) without cardiovascular disease were enrolled. The Framingham score, the Reynolds score, the new score proposed by the 2013 ACC/AHA Guidelines and the Metabolic Syndrome Severity Calculator were calculated. Prevalence of carotid plaque was determined by ultrasound examination. A Receiver Operating Characteristic analysis was performed. A total of 238 patients were enrolled. Most patients were stratified as "low risk" by Framingham score (64%) and Reynolds score (70.1%). Using the 2013 ACC/AHA score, 45.3% of the population had a risk ≥7.5%. A significant correlation was found between classic scores but the agreement (concordance) was moderate. The correlation between classical scores and the Metabolic Syndrome Severity Calculator was poor. Overall, the prevalence of carotid plaque was 28.2%. The continuous metabolic syndrome score used in our study showed a good predictive power to detect carotid plaque (area under the curve 0.752). In this population, the calculated cardiovascular risk was heterogenic. The prevalence of carotid plaque was high. The Metabolic Syndrome Severity Calculator showed a good predictive power to detect carotid plaque.

Schizophrenia-like symptoms in a patient with Leigh syndrome.

PubMed

Satogami, Kazumi; Takahashi, Shun; Kose, Asami; Shinosaki, Kazuhiro

2017-02-01

Leigh syndrome is a mitochondrial disease characterized by subacute necrotizing encephalomyelopathy. Almost all cases of Leigh syndrome develop at infancy or early childhood and die within several years due to rapidly progressive muscle weakness and respiratory failure. Here, we present a rare case of a patient who developed Leigh syndrome associated with thiamine-responsive pyruvate dehydrogenase-complex deficiency at 2 years of age and has survived to adolescence through effective high dose thiamin therapy. At 15 years of age, the patient presented persecutory delusions and auditory hallucinations, suggesting an association between mitochondrial dysfunction and schizophrenia-like psychotic symptoms. Copyright © 2016 Elsevier B.V. All rights reserved.

Pigmentary maculopathy in a patient with Wolfram syndrome.

PubMed

Dhalla, Mandeep S; Desai, Uday R; Zuckerbrod, Daniel S

2006-02-01

We describe a rare association of pigmentary maculopathy with Wolfram syndrome not previously reported in the literature. A 12-year-old boy presented to the retina service with a diagnosis of Wolfram syndrome and a history of poor central vision. The patient was found to have bilateral atrophic pigmentary maculopathy that was confirmed with fluorescein angiography. Wolfram syndrome may present with a pigmentary maculopathy and this rare finding may assist the clinician in making appropriate genetic referral when this diagnosis is suspected.

Effect of nano silver and silver nitrate on seed yield of (Ocimum basilicum L.)

PubMed Central

2014-01-01

Background The aim of this study was to evaluate the effect of nano silver and silver nitrate on yield of seed in basil plant. The study was carried out in a randomized block design with three replications. Results Four levels of either silver nitrate (0, 100, 200 and 300 ppm) or nano silver (0, 20, 40, and 60 ppm) were sprayed on basil plant at seed growth stage. The results showed that there was no significant difference between 100 ppm of silver nitrate and 60 ppm concentration of nano silver on the shoot silver concentration. However, increasing the concentration of silver nitrate from 100 to 300 ppm caused a decrease in seed yield. In contrast, a raise in the concentration of nano silver from 20 to 60 ppm has led to an improvement in the seed yield. Additionally, the lowest amount of seed yield was found with control plants. Conclusions Finally, with increasing level of silver nitrate, the polyphenol compound content was raised but the enhancing level of nano silver resulting in the reduction of these components. In conclusion, nano silver can be used instead of other compounds of silver. PMID:25383311