Ion-current-based Proteomic Profiling of the Retina in a Rat Model of Smith-Lemli-Opitz Syndrome*

PubMed Central

Tu, Chengjian; Li, Jun; Jiang, Xiaosheng; Sheflin, Lowell G.; Pfeffer, Bruce A.; Behringer, Matthew; Fliesler, Steven J.; Qu, Jun

2013-01-01

Smith-Lemli-Opitz syndrome (SLOS) is one of the most common recessive human disorders and is characterized by multiple congenital malformations as well as neurosensory and cognitive abnormalities. A rat model of SLOS has been developed that exhibits progressive retinal degeneration and visual dysfunction; however, the molecular events underlying the degeneration and dysfunction remain poorly understood. Here, we employed a well-controlled, ion-current-based approach to compare retinas from the SLOS rat model to retinas from age- and sex-matched control rats (n = 5/group). Retinas were subjected to detergent extraction and subsequent precipitation and on-pellet-digestion procedures and then were analyzed on a long, heated column (75 cm, with small particles) with a 7-h gradient. The high analytical reproducibility of the overall proteomics procedure enabled reliable expression profiling. In total, 1,259 unique protein groups, ∼40% of which were membrane proteins, were quantified under highly stringent criteria, including a peptide false discovery rate of 0.4%, with high quality ion-current data (e.g. signal-to-noise ratio ≥ 10) obtained independently from at least two unique peptides for each protein. The ion-current-based strategy showed greater quantitative accuracy and reproducibility over a parallel spectral counting analysis. Statistically significant alterations of 101 proteins were observed; these proteins are implicated in a variety of biological processes, including lipid metabolism, oxidative stress, cell death, proteolysis, visual transduction, and vesicular/membrane transport, consistent with the features of the associated retinal degeneration in the SLOS model. Selected targets were further validated by Western blot analysis and correlative immunohistochemistry. Importantly, although photoreceptor cell death was validated by TUNEL analysis, Western blot and immunohistochemical analyses suggested a caspase-3-independent pathway. In total, these

Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome.

PubMed

Serra, Montserrat; Matabosch, Xavier; Ying, Lee; Watson, Gordon; Shackleton, Cedric

2010-11-01

Our recent studies have focused on cholesterol synthesis in mouse models for 7-dehydrosterolreductase (DHCR7) deficiency, also known as Smith-Lemli-Opitz syndrome. Investigations of such mutants have relied on tissue and blood levels of the cholesterol precursor 7-dehydrocholesterol (7DHC) and its 8-dehydro isomer. In this investigation by gas chromatography/mass spectrometry (GC/MS) we have identified and quantified cholesterol and its precursors (7DHC, desmosterol, lathosterol, lanosterol and cholest-7,24-dien-3β-ol) in mouse hair. The components were characterized and their concentrations were compared to those found in mouse skin and serum. Hair appeared unique in that desmosterol was a major sterol component, almost matching in concentration cholesterol itself. In DHCR7 deficient mice, dehydrodesmosterol (DHD) was the dominant hair Δ(7) sterol. Mutant mouse hair had much higher concentrations of 7-dehydrosterols relative to cholesterol than did serum or tissue at all ages studied. The 7DHC/C ratio in hair was typically about sevenfold the value in serum or skin and the DHD/D ratio was 100× that of the serum 7DHC/C ratio. Mutant mice compensate for their DHCR7 deficiency with maturity, and the tissue and blood 7DHC/C become close to normal. That hair retains high relative concentrations of the dehydro precursors suggests that the apparent up-regulation of Dhcr7 seen in liver is slower to develop at the site of hair cholesterol synthesis. Copyright © 2010 Elsevier Ltd. All rights reserved.

Webbing of the fingers or toes

MedlinePlus

... Carpenter syndrome Cornelia de Lange syndrome Pfeiffer syndrome Smith-Lemli-Opitz syndrome Use of the medicine hydantoin ... Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation . 7th ed. Philadelphia, ...

The short arm deletion syndrome of chromosome 4 (4p- syndrome).

PubMed

Zellweger, H; Bardach, J; Bordwell, J; Williams, K

1975-01-01

Partial deletion of the short arm of chromosome 4 (4p-) represents another (rare) cause of cleft lip and cleft palate. Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias. Life expectancy is often shortened. The 4p- syndrome has many features in common with another deletion syndrome, the cri-du-chat syndrome, and also with the Smith-Lemli-Opitz syndrome. The latter is a hereditary condition with normal karyotype. The cri-du-chat syndrome is characterized by a peculiar high-pitched, mewing cry and can be differentiated from the Wolf syndrome by the different staining characteristics (banding) of chromosomes 4 and 5.

Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome

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

Fryburg, J.S.; Lin, K.Y.; Golden, W.L.

This report is on a 14-month-old boy with manifestations of Opitz (G/BBB) syndrome in whom a 22q11.2 deletion was found. Deletion analysis was requested because of some findings in this patient reminiscent of velocardiofacial (VCF) syndrome. The extent of aspiration and of respiratory symptoms in this child is not usually seen in VCF syndrome. Opitz syndrome maps to at least two loci, one on Xp, the other on 22q11.2. 12 refs., 2 figs.

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.

PubMed

Ballini, Andrea; Cantore, Stefania; Tullo, Domenica; Desiate, Apollonia

2011-01-27

Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds. We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome. Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments.

Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance

PubMed Central

Russell, Bianca; Johnston, Jennifer J; Biesecker, Leslie G.; Kramer, Nancy; Pickart, Angela; Rhead, William; Tan, Wen-Hann; Brownstein, Catherine A; Clarkson, L Kate; Dobson, Amy; Rosenberg, Avi Z; Schrier Vergano, Samantha A.; Helm, Benjamin M.; Harrison, Rachel E; Graham, John M

2016-01-01

Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues. Nine patients with Bohring-Opitz syndrome have been identified as having a mutation in ASXL1. We report on eight previously unpublished patients with Bohring-Opitz syndrome caused by an apparent or confirmed de novo mutation in ASXL1. Of note, two patients developed bilateral Wilms tumors. Somatic mutations in ASXL1 are associated with myeloid malignancies, and these reports emphasize the need for Wilms tumor screening in patients with ASXL1 mutations. We discuss clinical management with a focus on their feeding issues, cyclic vomiting, respiratory infections, insomnia, and tumor predisposition. Many patients are noted to have distinctive personalities (interactive, happy, and curious) and rapid hair growth; features not previously reported. PMID:25921057

Malformation syndromes caused by disorders of cholesterol synthesis

PubMed Central

Porter, Forbes D.; Herman, Gail E.

2011-01-01

Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological functions. These roles include being a precursor molecule for the synthesis of steroid hormones, neuroactive steroids, oxysterols, and bile acids. Cholesterol is also essential for the proper maturation and signaling of hedgehog proteins, and thus cholesterol is critical for embryonic development. After birth, most tissues can obtain cholesterol from either endogenous synthesis or exogenous dietary sources, but prior to birth, the human fetal tissues are dependent on endogenous synthesis. Due to the blood-brain barrier, brain tissue cannot utilize dietary or peripherally produced cholesterol. Generally, inborn errors of cholesterol synthesis lead to both a deficiency of cholesterol and increased levels of potentially bioactive or toxic precursor sterols. Over the past couple of decades, a number of human malformation syndromes have been shown to be due to inborn errors of cholesterol synthesis. Herein, we will review clinical and basic science aspects of Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, HEM dysplasia, X-linked dominant chondrodysplasia punctata, Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome, sterol-C-4 methyloxidase-like deficiency, and Antley-Bixler syndrome. PMID:20929975

Probable Opitz trigonocephaly C syndrome with medulloblastoma

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

Omran, H.; Hildebrandt, F.; Brandis, M.

1997-04-14

We report on a patient with trigonocephaly, biparietal widening as a result of metopic synostosis, strabismus, upslanted palpebral fissures, apparently low-set ears with abnormal helices, deeply furrowed palate, postaxial polysyndactyly of the feet, ankle flexion deformities, cryptorchidism, loose skin, and severe mental retardation, findings compatible with a diagnosis of the Opitz trigonocephaly C syndrome (OTS). At the age of 12 years this patient presented with symptoms of raised intracranial pressure. A biopsy showed findings diagnostic of a medulloblastoma WHO Grade IV, an unprecedented finding in OTS. The possibility of coincidence should not prevent continued surveillance of OTS patients in themore » future for the occurrence of malignancy. 33 refs., 4 figs., 1 tab.« less

Ankyloglossia with cleft lip: A rare case report

PubMed Central

Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

2015-01-01

Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

PubMed Central

2013-01-01

Background Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes that may otherwise be co-assigned as a specific syndrome based on shared clinical features, and can associate phenotypically diverse diseases to a single locus through allelic affinity. Here we describe an apparently novel syndrome, likely caused by de novo truncating mutations in ASXL3, which shares characteristics with Bohring-Opitz syndrome, a disease associated with de novo truncating mutations in ASXL1. Methods We used whole-genome and whole-exome sequencing to interrogate the genomes of four subjects with an undiagnosed syndrome. Results Using genome-wide sequencing, we identified heterozygous, de novo truncating mutations in ASXL3, a transcriptional repressor related to ASXL1, in four unrelated probands. We found that these probands shared similar phenotypes, including severe feeding difficulties, failure to thrive, and neurologic abnormalities with significant developmental delay. Further, they showed less phenotypic overlap with patients who had de novo truncating mutations in ASXL1. Conclusion We have identified truncating mutations in ASXL3 as the likely cause of a novel syndrome with phenotypic overlap with Bohring-Opitz syndrome. PMID:23383720

The effects of 7-dehydrocholesterol on the structural properties of membranes

NASA Astrophysics Data System (ADS)

Liu, Yingzhe; Chipot, Christophe; Shao, Xueguang; Cai, Wensheng

2011-10-01

Smith-Lemli-Opitz syndrome, a congenital and developmental malformation disease, is typified by abnormal accumulation of 7-dehydrocholesterol (7DHC), the immediate precursor of cholesterol (CHOL), and depletion thereof. Knowledge of the effect of 7DHC on the biological membrane is, however, still fragmentary. In this study, large-scale atomistic molecular dynamics simulations, employing two distinct force fields, have been conducted to elucidate differences in the structural properties of a hydrated dimyristoylphosphatidylcholine bilayer due to CHOL and 7DHC. The present series of results indicate that CHOL and 7DHC possess virtually the same ability to condense and order membranes. Furthermore, the condensing and ordering effects are shown to be strengthened at increasing sterol concentrations.

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

PubMed

Gropman, Andrea L; Duncan, Wallace C; Smith, Ann C M

2006-05-01

The Smith-Magenis syndrome is a rare, complex multisystemic disorder featuring, mental retardation and multiple congenital anomalies caused by a heterozygous interstitial deletion of chromosome 17p11.2. The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and growth retardation, and a 24-hour sleep disturbance. A striking neurobehavioral pattern of stereotypies, hyperactivity, polyembolokoilamania, onychotillomania, maladaptive and self-injurious and aggressive behavior is observed with increasing age. The diagnosis of Smith-Magenis syndrome is based upon the clinical recognition of a constellation of physical, developmental, and behavioral features in combination with a sleep disorder characterized by inverted circadian rhythm of melatonin secretion. Many of the features of Smith-Magenis syndrome are subtle in infancy and early childhood, and become more recognizable with advancing age. Infants are described as looking "cherubic" with a Down syndrome-like appearance, whereas with age the facial appearance is that of relative prognathism. Early diagnosis requires awareness of the often subtle clinical and neurobehavioral phenotype of the infant period. Speech delay with or without hearing loss is common. Most children are diagnosed in mid-childhood when the features of the disorder are most recognizable and striking. While improvements in cytogenetic analysis help to bring cases to clinical recognition at an earlier age, this review seeks to increase clinical awareness about Smith-Magenis syndrome by presenting the salient features observed at different ages including descriptions of the neurologic and behavioral

Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene

PubMed Central

Graham, John M; Visootsak, Jeannie; Dykens, Elisabeth; Huddleston, Lillie; Clark, Robin D; Jones, Kenneth L; Moeschler, John B; Opitz, John M; Morford, Jackie; Simensen, Richard; Rogers, R. Curtis; Schwartz, Charles E; Friez, Michael J; Stevenson, Roger E

2011-01-01

Opitz and Kaveggia [1974] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus and hypotonia. Risheg et al. [2007] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man from the family reported in 1974. The previously defined behavior phenotype of hyperactivity, affability, and excessive talkativeness is very frequent in young boys with this mutation, along with socially oriented, attention-seeking behaviors. We present case studies of two older males with FG syndrome and the p.R961W mutation to illustrate how their behavior changes with age. We also characterize the behavior of eight additional individuals with FG syndrome and this recurrent mutation in MED12 using the Vineland Adaptive Behavior Scales 2nd ed., the Reiss Profile of Fundamental Goals and Motivation Sensitivities, and the Achenbach Child Behavior Checklist. Males with this MED12 mutation had deficits in communication skills compared to their socialization and daily living skills. In addition, they were at increased risk for maladaptive behavior, with a propensity towards aggression, anxiety, and inattention. Based on the behavior phenotype in 10 males with this recurrent MED12 mutation, we offer specific recommendations and interventional strategies. Our findings reinforce the importance of testing for the p.R961W MED12 mutation in males who are suspected of having developmental and behavioral problems with a clinical phenotype that is consistent with FG syndrome. PMID:18973276

New developments in Smith-Magenis syndrome (del 17p11.2).

PubMed

Gropman, Andrea L; Elsea, Sarah; Duncan, Wallace C; Smith, Ann C M

2007-04-01

Recent clinical, neuroimaging, sleep, and molecular cytogenetic studies have provided new insights into the mechanisms leading to the Smith-Magenis phenotype and are summarized in this review. Cross sectional studies of patients with Smith-Magenis syndrome have found evidence for central and peripheral nervous system abnormalities, neurobehavioral disturbances, and an inverted pattern of melatonin secretion leading to circadian rhythm disturbance. A common chromosome 17p11.2 deletion interval spanning approximately 3.5 Mb is identified in about 70% of individuals with chromosome deletion. Recently heterozygous point mutations in the RAI1 gene within the Smith-Magenis syndrome critical region have been reported in Smith-Magenis syndrome patients without detectable deletion by fluorescent in-situ hybridization. Patients with intragenic mutations in RAI1 as well as those with deletions share most but not all aspects of the phenotype. Findings from molecular cytogenetic analysis suggest that other genes or genetic background may play a role in altering the functional availability of RAI1 for downstream effects. Further research into additional genes in the Smith-Magenis syndrome critical region will help define the role they play in modifying features or severity of the Smith-Magenis syndrome phenotype. More research is needed to translate advances in clinical research into new treatment options to address the sleep and neurobehavioral problems in this disorder.

Genetics Home Reference: Smith-Magenis syndrome

MedlinePlus

... segment most often includes approximately 3.7 million DNA building blocks (base pairs), also written as 3. ... AM, Lupski JR, Potocki L. Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. J Dev Behav ...

Smith-Magenis Syndrome: Genetic Basis and Clinical Implications

ERIC Educational Resources Information Center

Finucane, Brenda; Haas-Givler, Barbara

2009-01-01

Smith-Magenis syndrome (SMS) is a neurobehavioral disorder associated with deletions and mutations of the "RAI1" gene on chromosome 17p11.2. Clinical features of the syndrome include intellectual disability, sleep disturbance, craniofacial differences, and a distinctive profile of stereotypic and self-injurious behaviors. Although the functional…

Auditory Phenotype of Smith-Magenis Syndrome

ERIC Educational Resources Information Center

Brendal, Megan A.; King, Kelly A.; Zalewski, Christopher K.; Finucane, Brenda M.; Introne, Wendy; Brewer, Carmen C.; Smith, Ann C. M.

2017-01-01

Purpose: The purpose of this study was to describe the auditory phenotype of a large cohort with Smith-Magenis syndrome (SMS), a rare disorder including physical anomalies, cognitive deficits, sleep disturbances, and a distinct behavioral phenotype. Method: Hearing-related data were collected for 133 individuals with SMS aged 1-49 years. Audiogram…

The Behavioural Phenotype of Smith-Magenis Syndrome: Evidence for a Gene-Environment Interaction

ERIC Educational Resources Information Center

Taylor, L.; Oliver, C.

2008-01-01

Background: Behaviour problems and a preference for adult contact are reported to be prominent in the phenotype of Smith-Magenis syndrome. In this study we examined the relationship between social interactions and self-injurious and aggressive/disruptive behaviour in Smith-Magenis syndrome to explore potential operant reinforcement of problem…

Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome

ERIC Educational Resources Information Center

Wilde, Lucy; Mitchell, Anna; Oliver, Chris

2016-01-01

Social excesses, characterised by heightened social motivation, are important for describing social functioning. Smith-Magenis syndrome (SMS) is a potential exemplar of a disorder where heightened social motivation is associated with negative behavioural outcomes. In Down syndrome (DS) strong social motivation is described, but less commonly…

Brief Report: Contrasting Profiles of Everyday Executive Functioning in Smith-Magenis Syndrome and Down Syndrome

ERIC Educational Resources Information Center

Wilde, Lucy; Oliver, Chris

2017-01-01

Everyday executive function (EF) was examined in Smith-Magenis syndrome (SMS), associated with high risk of behaviour disorder, and Down syndrome (DS), associated with relatively low risk of behaviour disorder. Caregivers of 13 children with SMS and 17 with DS rated everyday EF using the Behavioral Rating Inventory of Executive…

Are lemmings prey or predators?

NASA Astrophysics Data System (ADS)

Turchin, P.; Oksanen, L.; Ekerholm, P.; Oksanen, T.; Henttonen, H.

2000-06-01

Large oscillations in the populations of Norwegian lemmings have mystified both professional ecologists and lay public. Ecologists suspect that these oscillations are driven by a trophic mechanism: either an interaction between lemmings and their food supply, or an interaction between lemmings and their predators. If lemming cycles are indeed driven by a trophic interaction, can we tell whether lemmings act as the resource (`prey') or the consumer (`predator')? In trophic interaction models, peaks of resource density generally have a blunt, rounded shape, whereas peaks of consumer density are sharp and angular. Here we have applied several statistical tests to three lemming datasets and contrasted them with comparable data for cyclic voles. We find that vole peaks are blunt, consistent with their cycles being driven by the interaction with predators. In contrast, the shape of lemming peaks is consistent with the hypothesis that lemmings are functional predators, that is, their cycles are driven by their interaction with food plants. Our findings suggest that a single mechanism, such as interaction between rodents and predators, is unlikely to provide the `universal' explanation of all cyclic rodent dynamics.

A new cholesterol biosynthesis and absorption disorder associated with epilepsy, hypogonadism, and cerebro-cerebello-bulbar degeneration.

PubMed

Korematsu, Seigo; Uchiyama, Shin-ichi; Honda, Akira; Izumi, Tatsuro

2014-06-01

Cholesterol is one of the main components of human cell membranes and constitutes an essential substance in the central nervous system, endocrine system, and its hormones, including sex hormones. A 19-year-old male patient presented with failure to thrive, psychomotor deterioration, intractable epilepsy, hypogonadism, and cerebro-cerebello-bulbar degeneration. His serum level of cholesterol was low, ranging from 78.7 to 116.5 mg/dL. The serum concentrations of intermediates in the cholesterol biosynthesis pathway, such as 7-dehydrocholesterol, 8-dehydrocholesterol, desmosterol, lathosterol, and dihydrolanosterol, were not increased. In addition, the levels of the urinary cholesterol biosynthesis marker mevalonic acid, the serum cholesterol absorption markers, campesterol and sitosterol, and the serum cholesterol catabolism marker, 7α-hydroxycholesterol, were all low. A serum biomarker analysis indicated that the patient's basic abnormality differed from that of Smith-Lemli-Opitz syndrome and other known disorders of cholesterol metabolism. Therefore, this individual may have a new metabolic disorder with hypocholesterolemia because of decreased biosynthesis and absorption of cholesterol. Copyright © 2014 Elsevier Inc. All rights reserved.

Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome.

PubMed

So, Joyce; Müller, Ines; Kunath, Melanie; Herrmann, Susanne; Ullmann, Reinhard; Schweiger, Susann

2008-01-01

Opitz G/BBB syndrome (OS) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and cardiac defects. The X-linked form is caused by mutations in the MID1 gene, while no gene has yet been identified for the autosomal dominant form. Here, we report on a 15-year-old boy who was referred for MID1 mutation analysis with findings typical of OS, including apparent hypertelorism, hypospadias, a history of feeding difficulties, dysphagia secondary to esophageal arteria lusoria, growth retardation and developmental delay. No MID1 mutation was found, but subsequent sub-megabase resolution array CGH unexpectedly documented a 2.34 Mb terminal 4p deletion, suggesting a diagnosis of WHS, and a duplication in Xp22.31. Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving terminal chromosome 4p deletions, in particular 4p16.3. WHS is characterized by typical facial appearance ("Greek helmet facies"), mental retardation, congenital hypotonia, and growth retardation. While the severity of developmental delay in this patient supports the diagnosis of WHS rather than OS, this case illustrates the striking similarities of clinical findings in seemingly unrelated syndromes, suggesting common or interacting pathways at the molecular and pathogenetic level. This is the first report of arteria lusoria (esophageal vascular ring) in a patient with WHS. (c) 2007 Wiley-Liss, Inc.

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.

PubMed

Pyle, Louise C; Nathanson, Katherine L

2017-06-01

Differences of Sex Development (DSD) includes a wide spectrum of etiologies and phenotypes. A subset of individuals with DSDs are predisposed to gonadal germ cell tumor (GCT). In this setting, GCT risk varies widely, depending on the DSD molecular etiology and penetrance. Prognostication based on molecular diagnosis remains challenging, as natural history data specific to recently identified molecular causes of DSD is lacking. In this review, we provide a framework for the clinical geneticist to consider GCT tumor risk in the patient with DSD. We discuss germ cell development and etiology of GCT growth, along with parameters to consider when recommending prophylactic gonadectomy including fertility, hormonal output, and malignant GTC treatment outcomes. Shortly after the 2006 reorganization of DSD nomenclature, literature reviews of natural history publications stratified GCT risk by a chromosomal, pathological, and hormonal taxonomy. Our 2017 literature review reveals a larger body of publications. However, the broad DSD GCT risk stratification within the 2006 taxonomy remains stable. We discuss precise GCT risk assessment for specific diagnoses, including androgen insensitivity, Smith-Lemli-Opitz, and 46,XY with MAP3K1 mutations and gonadal dysgenesis, as examples. We also examine the GCT risk in non-DSD syndromes, in addition to the cancer risks in DSD patients with dimorphic gonads and genitalia. This review is intended to provide a nuanced assessment of relative germ cell tumor risk in the DSD patient, including modern precise molecular diagnosis, for use by the clinical geneticist. © 2017 Wiley Periodicals, Inc.

A Case Study of Early Development in Smith-Magenis Syndrome

ERIC Educational Resources Information Center

Fidler, Deborah J.; Philofsky, Amy D.; Hepburn, Susan L.

2006-01-01

The aim of this article is to provide an in-depth description of early development in a young child with Smith-Magenis syndrome (SMS). SMS is a multisystem, neurodevelopmental genetic disorder associated with mental retardation that predisposes individuals to a distinct pattern of maladaptive behaviors and other neuropsychological impairments.…

An Indirect Examination of the Function of Problem Behavior Associated with Fragile X Syndrome and Smith-Magenis Syndrome

ERIC Educational Resources Information Center

Langthorne, Paul; McGill, Peter

2012-01-01

Fragile X syndrome (FXS) and Smith-Magenis syndrome (SMS) are associated with a number of specific topographies of problem behavior. Very few studies have examined the function served by problem behavior in these groups. Using the Questions About Behavioral Function scale Matson and Vollmer (User's guide: questions about behavioral function…

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.

PubMed

Maya, Idit; Vinkler, Chana; Konen, Osnat; Kornreich, Liora; Steinberg, Tamar; Yeshaya, Josepha; Latarowski, Victoria; Shohat, Mordechai; Lev, Dorit; Baris, Hagit N

2014-08-01

Smith-Magenis syndrome (SMS) is a clinically recognizable contiguous gene syndrome ascribed to an interstitial deletion in chromosome 17p11.2. Seventy percent of SMS patients have a common deletion interval spanning 3.5 megabases (Mb). Clinical features of SMS include characteristic mild dysmorphic features, ocular anomalies, short stature, brachydactyly, and hypotonia. SMS patients have a unique neurobehavioral phenotype that includes intellectual disability, self-injurious behavior and severe sleep disturbance. Little has been reported in the medical literature about anatomical brain anomalies in patients with SMS. Here we describe two patients with SMS caused by the common deletion in 17p11.2 diagnosed using chromosomal microarray (CMA). Both patients had a typical clinical presentation and abnormal brain magnetic resonance imaging (MRI) findings. One patient had subependymal periventricular gray matter heterotopia, and the second had a thin corpus callosum, a thin brain stem and hypoplasia of the cerebellar vermis. This report discusses the possible abnormal MRI images in SMS and reviews the literature on brain malformations in SMS. Finally, although structural brain malformations in SMS patients are not a common feature, we suggest baseline routine brain imaging in patients with SMS in particular, and in patients with chromosomal microdeletion/microduplication syndromes in general. Structural brain malformations in these patients may affect the decision-making process regarding their management. © 2014 Wiley Periodicals, Inc.

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

PubMed Central

He, Miao; Kratz, Lisa E.; Michel, Joshua J.; Vallejo, Abbe N.; Ferris, Laura; Kelley, Richard I.; Hoover, Jacqueline J.; Jukic, Drazen; Gibson, K. Michael; Wolfe, Lynne A.; Ramachandran, Dhanya; Zwick, Michael E.; Vockley, Jerry

2011-01-01

Defects in cholesterol synthesis result in a wide variety of symptoms, from neonatal lethality to the relatively mild dysmorphic features and developmental delay found in individuals with Smith-Lemli-Opitz syndrome. We report here the identification of mutations in sterol-C4-methyl oxidase–like gene (SC4MOL) as the cause of an autosomal recessive syndrome in a human patient with psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. This gene encodes a sterol-C4-methyl oxidase (SMO), which catalyzes demethylation of C4-methylsterols in the cholesterol synthesis pathway. C4-Methylsterols are meiosis-activating sterols (MASs). They exist at high concentrations in the testis and ovary and play roles in meiosis activation. In this study, we found that an accumulation of MASs in the patient led to cell overproliferation in both skin and blood. SMO deficiency also substantially altered immunocyte phenotype and in vitro function. MASs serve as ligands for liver X receptors α and β (LXRα and LXRβ), which are important in regulating not only lipid transport in the epidermis, but also innate and adaptive immunity. Deficiency of SMO represents a biochemical defect in the cholesterol synthesis pathway, the clinical spectrum of which remains to be defined. PMID:21285510

Sensory motor and functional skills of dizygotic twins: one with Smith-Magenis syndrome and a twin control.

PubMed

Smith, Michaele R; Hildenbrand, Hanna; Smith, Ann C M

2009-01-01

Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors. Physical and occupational therapists provide services for children who have the syndrome, whose genetic disorder is frequently not identified or diagnosed before 1 year of age. A comprehensive physical and occupational therapy evaluation was completed in nonidentical twins with one having SMS, using the Sensory Profile; Brief Assessment of Motor Function (BAMF); Peabody Developmental Motor Scales, Second Edition (PDMS-2); and Pediatric Evaluation of Disability Inventory (PEDI). This provides a framework for conducting assessments to enhance early detection and interdisciplinary management with this specialized population.

LEM-CF Premixed Tool Kit

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

2015-01-19

The purpose of LEM-CF Premixed Tool Kit is to process premixed flame simulation data from the LEM-CF solver (https://fileshare.craft-tech.com/clusters/view/lem-cf) into a large-eddy simulation (LES) subgrid model database. These databases may be used with a user-defined-function (UDF) that is included in the Tool Kit. The subgrid model UDF may be used with the ANSYS FLUENT flow solver or other commercial flow solvers.

Analysis of the Sensory Profile in Children with Smith-Magenis Syndrome

ERIC Educational Resources Information Center

Hildenbrand, Hanna L.; Smith, Ann C. M.

2012-01-01

This study systematically assessed sensory processing in 34 children, aged 3-14 years, with Smith-Magenis syndrome (SMS) using the Sensory Profile Caregiver Questionnaire. Scores for the SMS cohort were significantly different from scores of the national sample of children with and without disabilities in all Sensory Profile categories and…

Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome.

PubMed

Wilde, Lucy; Mitchell, Anna; Oliver, Chris

2016-06-01

Social excesses, characterised by heightened social motivation, are important for describing social functioning. Smith-Magenis syndrome (SMS) is a potential exemplar of a disorder where heightened social motivation is associated with negative behavioural outcomes. In Down syndrome (DS) strong social motivation is described, but less commonly associated with behavioural problems. Children with SMS (n = 21) and DS (n = 19) were observed during social situations, in which familiarity of adults present and level of attention available were manipulated. Motivation in SMS was characterised by comparatively frequent social initiations when adult attention was low, and stronger preference for familiar adults, compared to DS. Findings provide insight into the nature of social motivation in SMS and support an argument for nuanced consideration of motivation.

Profiling and Imaging Ion Mobility-Mass Spectrometry Analysis of Cholesterol and 7-Dehydrocholesterol in Cells Via Sputtered Silver MALDI

PubMed Central

Xu, Libin; Kliman, Michal; Forsythe, Jay G.; Korade, Zeljka; Hmelo, Anthony B.; Porter, Ned A.; McLean, John A.

2015-01-01

Profiling and imaging of cholesterol and its precursors by mass spectrometry (MS) are important in a number of cholesterol biosynthesis disorders, such as in Smith-Lemli-Opitz syndrome (SLOS), where 7-dehydrocholesterol (7-DHC) is accumulated in affected individuals. SLOS is caused by defects in the enzyme that reduces 7-DHC to cholesterol. However, analysis of sterols is challenging because these hydrophobic olefins are difficult to ionize for MS detection. We report here sputtered silver matrix-assisted laser desorption/ionization (MALDI)-ion mobility-MS (IM-MS) analysis of cholesterol and 7-DHC. In comparison with liquid-based AgNO3 and colloidal Ag nanoparticle (AgNP), sputtered silver NP (10–25 nm) provided the lowest limits-of-detection based on the silver coordinated [cholesterol+Ag]+ and [7-DHC+Ag]+ signals while minimizing dehydrogenation products ([M+Ag-2H]+). When analyzing human fibroblasts that were directly grown on poly-L-lysine-coated ITO glass plates with this technique, in situ, the 7-DHC/cholesterol ratios for both control and SLOS human fibroblasts are readily obtained. The m/z of 491 (specific for [7-DHC+107Ag]+) and 495 (specific for [cholesterol+109Ag]+) were subsequently imaged using MALDI-IM-MS. MS images were co-registered with optical images of the cells for metabolic ratio determination. From these comparisons, ratios of 7-DHC/cholesterol for SLOS human fibroblasts are distinctly higher than in control human fibroblasts. Thus, this strategy demonstrates the utility for diagnosing/assaying the severity of cholesterol biosynthesis disorders in vitro. PMID:25822928

Profiling and Imaging Ion Mobility-Mass Spectrometry Analysis of Cholesterol and 7-Dehydrocholesterol in Cells Via Sputtered Silver MALDI

NASA Astrophysics Data System (ADS)

Xu, Libin; Kliman, Michal; Forsythe, Jay G.; Korade, Zeljka; Hmelo, Anthony B.; Porter, Ned A.; McLean, John A.

2015-06-01

Profiling and imaging of cholesterol and its precursors by mass spectrometry (MS) are important in a number of cholesterol biosynthesis disorders, such as in Smith-Lemli-Opitz syndrome (SLOS), where 7-dehydrocholesterol (7-DHC) is accumulated in affected individuals. SLOS is caused by defects in the enzyme that reduces 7-DHC to cholesterol. However, analysis of sterols is challenging because these hydrophobic olefins are difficult to ionize for MS detection. We report here sputtered silver matrix-assisted laser desorption/ionization (MALDI)-ion mobility-MS (IM-MS) analysis of cholesterol and 7-DHC. In comparison with liquid-based AgNO3 and colloidal Ag nanoparticle (AgNP), sputtered silver NP (10-25 nm) provided the lowest limits-of-detection based on the silver coordinated [cholesterol + Ag]+ and [7-DHC + Ag]+ signals while minimizing dehydrogenation products ([M + Ag-2H]+). When analyzing human fibroblasts that were directly grown on poly-L-lysine-coated ITO glass plates with this technique, in situ, the 7-DHC/cholesterol ratios for both control and SLOS human fibroblasts are readily obtained. The m/z of 491 (specific for [7-DHC + 107Ag]+) and 495 (specific for [cholesterol + 109Ag]+) were subsequently imaged using MALDI-IM-MS. MS images were co-registered with optical images of the cells for metabolic ratio determination. From these comparisons, ratios of 7-DHC/cholesterol for SLOS human fibroblasts are distinctly higher than in control human fibroblasts. Thus, this strategy demonstrates the utility for diagnosing/assaying the severity of cholesterol biosynthesis disorders in vitro.

Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).

PubMed

Yang, Jianying; Chandrasekharappa, Settara C; Vilboux, Thierry; Smith, Ann C M; Peterson, Erik J

2014-08-01

Smith-Magenis syndrome (SMS) is a sporadic congenital disorder involving multiple organ systems caused by chromosome 17p11.2 deletions. Smith-Magenis syndrome features craniofacial and skeletal anomalies, cognitive impairment, and neurobehavioral abnormalities. In addition, some SMS patients may exhibit hypogammaglobulinemia. We report the first case of SMS-associated autoimmunity in a woman who presented with adult onset of multiple autoimmune disorders, including systemic lupus erythematosus, antiphospholipid antibody syndrome, and autoimmune hepatitis. Molecular analysis using single-nucleotide polymorphism array confirmed a de novo 3.8-Mb deletion (breakpoints, chr17: 16,660,721-20,417,975), resulting in haploinsufficiency for TACI (transmembrane activator and CAML interactor). Our data are consistent with potential loss of function for the BAFF (B cell-activating factor) receptor TACI as a contributing factor to human autoimmune phenomena.

Non-invasive ventilation for sleep-disordered breathing in Smith-Magenis syndrome.

PubMed

Connor, Victoria; Zhao, Sizheng; Angus, Robert

2016-08-05

Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder characterised by behavioural disturbances, intellectual disability and early onset obesity. The physical features of this syndrome are well characterised; however, behavioural features, such as sleep disturbance, are less well understood and difficult to manage. Sleep issues in SMS are likely due to a combination of disturbed melatonin cycle, facial anatomy and obesity-related ventilatory problems. Sleep disorders can be very distressing to patients and their families, as exemplified by our patient's experience, and can worsen behavioural issues as well as general health. This case demonstrates the successful use of non-invasive ventilation in treating underlying obesity hypoventilation syndrome and obstructive sleep apnoea. As a consequence of addressing abnormalities in sleep patterns, some behavioural problems improved. 2016 BMJ Publishing Group Ltd.

Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.

PubMed

Madduri, Niru; Peters, Sarika U; Voigt, Robert G; Llorente, Antolin M; Lupski, James R; Potocki, Lorraine

2006-06-01

Smith-Magenis syndrome (SMS) is a multiple congenital anomalies and mental retardation syndrome associated with an interstitial deletion of chromosome 17 band p11.2. The incidence of this microdeletion syndrome is estimated to be 1 in 25,000 individuals. Persons with SMS have a distinctive neurobehavioral phenotype that is characterized by aggressive and self-injurious behaviors and significant sleep disturbances. From December 1990 through September 1999, 58 persons with SMS were enrolled in a 5-day multidisciplinary clinical protocol. Developmental assessments consisting of cognitive level and adaptive behavior were completed in 57 persons. Most patients functioned in the mild-to-moderate range of mental retardation. In addition, we report that patients with SMS have low adaptive functioning with relative strengths in socialization and relative weakness in daily living skills. These data were analyzed in light of the molecular extent of the microdeletion within 17p11.2. We found that the level of cognitive and adaptive functioning does depend on deletion size, and that a small percentage of SMS patients have cognitive function in the borderline range.

Characterization of Self-Injurious Behaviors in Children and Adults with Smith-Magenis Syndrome.

ERIC Educational Resources Information Center

Finucane, Brenda; Dirrigl, Karen Haines; Simon, Elliot W.

2001-01-01

This study examined the prevalence and severity of self-injurious behavior (SIB) in 29 children and adults with Smith-Magenis syndrome, a genetic disorder usually involving moderate mental retardation. Findings confirmed the near universal presence of SIB in this population. The overall prevalence of SIB increased with age. Number of types of SIB…

Genetics Home Reference: FG syndrome

MedlinePlus

... inheritance is that fathers cannot pass X-linked traits to their sons. Related Information What does it ... Opitz JO. Behavior phenotype of FG syndrome: cognition, personality, and behavior in eleven affected boys. Am J ...

An Individual with Gilles de la Tourette Syndrome and Smith-Magenis Microdeletion Syndrome: Is Chromosome 17p11.2 a Candidate Region for Tourette Syndrome Putative Susceptibility Genes?

ERIC Educational Resources Information Center

Shelley, B. P.; Robertson, M. M.; Turk, J.

2007-01-01

This is the first published case description in the current literature of the association of definite Gilles de la Tourette syndrome (GTS) and the Smith-Magenis syndrome (SMS), both confirmed by DSM-IV-TR criteria and molecular cytogenetic analysis, respectively. The co-occurrence of GTS, SMS and their common behavioural/neuropsychiatric…

Response of an arctic predator guild to collapsing lemming cycles

PubMed Central

Schmidt, Niels M.; Ims, Rolf A.; Høye, Toke T.; Gilg, Olivier; Hansen, Lars H.; Hansen, Jannik; Lund, Magnus; Fuglei, Eva; Forchhammer, Mads C.; Sittler, Benoit

2012-01-01

Alpine and arctic lemming populations appear to be highly sensitive to climate change, and when faced with warmer and shorter winters, their well-known high-amplitude population cycles may collapse. Being keystone species in tundra ecosystems, changed lemming dynamics may convey significant knock-on effects on trophically linked species. Here, we analyse long-term (1988–2010), community-wide monitoring data from two sites in high-arctic Greenland and document how a collapse in collared lemming cyclicity affects the population dynamics of the predator guild. Dramatic changes were observed in two highly specialized lemming predators: snowy owl and stoat. Following the lemming cycle collapse, snowy owl fledgling production declined by 98 per cent, and there was indication of a severe population decline of stoats at one site. The less specialized long-tailed skua and the generalist arctic fox were more loosely coupled to the lemming dynamics. Still, the lemming collapse had noticeable effects on their reproductive performance. Predator responses differed somewhat between sites in all species and could arise from site-specific differences in lemming dynamics, intra-guild interactions or subsidies from other resources. Nevertheless, population extinctions and community restructuring of this arctic endemic predator guild are likely if the lemming dynamics are maintained at the current non-cyclic, low-density state. PMID:22977153

Response of an arctic predator guild to collapsing lemming cycles.

PubMed

Schmidt, Niels M; Ims, Rolf A; Høye, Toke T; Gilg, Olivier; Hansen, Lars H; Hansen, Jannik; Lund, Magnus; Fuglei, Eva; Forchhammer, Mads C; Sittler, Benoit

2012-11-07

Alpine and arctic lemming populations appear to be highly sensitive to climate change, and when faced with warmer and shorter winters, their well-known high-amplitude population cycles may collapse. Being keystone species in tundra ecosystems, changed lemming dynamics may convey significant knock-on effects on trophically linked species. Here, we analyse long-term (1988-2010), community-wide monitoring data from two sites in high-arctic Greenland and document how a collapse in collared lemming cyclicity affects the population dynamics of the predator guild. Dramatic changes were observed in two highly specialized lemming predators: snowy owl and stoat. Following the lemming cycle collapse, snowy owl fledgling production declined by 98 per cent, and there was indication of a severe population decline of stoats at one site. The less specialized long-tailed skua and the generalist arctic fox were more loosely coupled to the lemming dynamics. Still, the lemming collapse had noticeable effects on their reproductive performance. Predator responses differed somewhat between sites in all species and could arise from site-specific differences in lemming dynamics, intra-guild interactions or subsidies from other resources. Nevertheless, population extinctions and community restructuring of this arctic endemic predator guild are likely if the lemming dynamics are maintained at the current non-cyclic, low-density state.

Propagation rate constants for the peroxidation of sterols on the biosynthetic pathway to cholesterol.

PubMed

Lamberson, Connor R; Muchalski, Hubert; McDuffee, Kari B; Tallman, Keri A; Xu, Libin; Porter, Ned A

2017-10-01

The free radical chain autoxidation of cholesterol and the oxidation products formed, i.e. oxysterols, have been the focus of intensive study for decades. The peroxidation of sterol precursors to cholesterol such as 7-dehydrocholesterol (7-DHC) and desmosterol as well as their oxysterols has received less attention. The peroxidation of these sterol precursors can become important under circumstances in which genetic conditions or exposures to small molecules leads to an increase of these biosynthetic intermediates in tissues and fluids. 7-DHC, for example, has a propagation rate constant for peroxidation some 200 times that of cholesterol and this sterol is found at elevated levels in a devastating human genetic condition, Smith-Lemli-Opitz syndrome (SLOS). The propagation rate constants for peroxidation of sterol intermediates on the biosynthetic pathway to cholesterol were determined by a competition kinetic method, i.e. a peroxyl radical clock. In this work, propagation rate constants for lathosterol, zymostenol, desmosterol, 7-dehydrodesmosterol and other sterols in the Bloch and Kandutsch-Russell pathways are assigned and these rate constants are related to sterol structural features. Furthermore, potential oxysterols products are proposed for sterols whose oxysterol products have not been determined. Copyright © 2017 Elsevier B.V. All rights reserved.

How Do Health Care Providers Diagnose Turner Syndrome?

MedlinePlus

... Email Print How do health care providers diagnose Turner syndrome? Health care providers use a combination of physical ... the X chromosomes is partially or completely missing. Turner syndrome also can be diagnosed during pregnancy by testing ...

Ambiguous genitalia: what prenatal genetic testing is practical?

PubMed

Adam, Margaret P; Fechner, Patricia Y; Ramsdell, Linda A; Badaru, Angela; Grady, Richard E; Pagon, Roberta A; McCauley, Elizabeth; Cheng, Edith Y; Parisi, Melissa A; Shnorhavorian, Margarett

2012-06-01

Concern for ambiguous genitalia or chromosome-phenotype discordance detected in a prenatal setting has increased over the last two decades. Practitioners faced with this prenatal finding have a variety of genetic tests available to them; however, it is unclear to what extent prenatal testing for disorders of sex development (DSD) is useful or practical. We undertook a retrospective review of the medical records of 140 individuals evaluated through the DSD clinic at Seattle Children's Hospital with birthdates from 01/01/1994 through 08/16/2011 to determine the rate of prenatal detection of ambiguous genitalia in individuals with DSD, what prenatal diagnostic workup was undertaken, and the postnatal outcome, including whether a postnatal genetic diagnosis was confirmed. Of all 140 subjects, 34 (24%) were identified prenatally. The most common postnatal diagnoses were penoscrotal hypospadias with transposition of the scrotum with no known genetic cause (24/140; 17%) and 21-hydroxylase deficiency (20/140; 14%). Apart from these, no single diagnosis comprised more than a few cases. Prenatal diagnostic testing varied widely, from no tests to multiple molecular tests with amniotic fluid hormone concentrations. In the absence of other fetal anomalies or growth retardation on ultrasound, prenatal karyotype with fluorescence in situ hybridization for the SRY gene is the most useful test when ambiguous genitalia is suspected. Further prenatal testing for Smith-Lemli-Opitz syndrome in 46,XY individuals and congenital adrenal hyperplasia in 46,XX individuals may be considered. However, targeted molecular testing for rare DSD conditions in the absence of a family history of DSD has a low yield. Copyright © 2012 Wiley Periodicals, Inc.

Unique and shared functions of nuclear lamina LEM domain proteins in Drosophila.

PubMed

Barton, Lacy J; Wilmington, Shameika R; Martin, Melinda J; Skopec, Hannah M; Lovander, Kaylee E; Pinto, Belinda S; Geyer, Pamela K

2014-06-01

The nuclear lamina is an extensive protein network that contributes to nuclear structure and function. LEM domain (LAP2, emerin, MAN1 domain, LEM-D) proteins are components of the nuclear lamina, identified by a shared ∼45-amino-acid motif that binds Barrier-to-autointegration factor (BAF), a chromatin-interacting protein. Drosophila melanogaster has three nuclear lamina LEM-D proteins, named Otefin (Ote), Bocksbeutel (Bocks), and dMAN1. Although these LEM-D proteins are globally expressed, loss of either Ote or dMAN1 causes tissue-specific defects in adult flies that differ from each other. The reason for such distinct tissue-restricted defects is unknown. Here, we generated null alleles of bocks, finding that loss of Bocks causes no overt adult phenotypes. Next, we defined phenotypes associated with lem-d double mutants. Although the absence of individual LEM-D proteins does not affect viability, loss of any two proteins causes lethality. Mutant phenotypes displayed by lem-d double mutants differ from baf mutants, suggesting that BAF function is retained in animals with a single nuclear lamina LEM-D protein. Interestingly, lem-d double mutants displayed distinct developmental and cellular mutant phenotypes, suggesting that Drosophila LEM-D proteins have developmental functions that are differentially shared with other LEM-D family members. This conclusion is supported by studies showing that ectopically produced LEM-D proteins have distinct capacities to rescue the tissue-specific phenotypes found in single lem-d mutants. Our findings predict that cell-specific mutant phenotypes caused by loss of LEM-D proteins reflect both the constellation of LEM-D proteins within the nuclear lamina and the capacity of functional compensation of the remaining LEM-D proteins. Copyright © 2014 by the Genetics Society of America.

Unique and Shared Functions of Nuclear Lamina LEM Domain Proteins in Drosophila

PubMed Central

Barton, Lacy J.; Wilmington, Shameika R.; Martin, Melinda J.; Skopec, Hannah M.; Lovander, Kaylee E.; Pinto, Belinda S.; Geyer, Pamela K.

2014-01-01

The nuclear lamina is an extensive protein network that contributes to nuclear structure and function. LEM domain (LAP2, emerin, MAN1 domain, LEM-D) proteins are components of the nuclear lamina, identified by a shared ∼45-amino-acid motif that binds Barrier-to-autointegration factor (BAF), a chromatin-interacting protein. Drosophila melanogaster has three nuclear lamina LEM-D proteins, named Otefin (Ote), Bocksbeutel (Bocks), and dMAN1. Although these LEM-D proteins are globally expressed, loss of either Ote or dMAN1 causes tissue-specific defects in adult flies that differ from each other. The reason for such distinct tissue-restricted defects is unknown. Here, we generated null alleles of bocks, finding that loss of Bocks causes no overt adult phenotypes. Next, we defined phenotypes associated with lem-d double mutants. Although the absence of individual LEM-D proteins does not affect viability, loss of any two proteins causes lethality. Mutant phenotypes displayed by lem-d double mutants differ from baf mutants, suggesting that BAF function is retained in animals with a single nuclear lamina LEM-D protein. Interestingly, lem-d double mutants displayed distinct developmental and cellular mutant phenotypes, suggesting that Drosophila LEM-D proteins have developmental functions that are differentially shared with other LEM-D family members. This conclusion is supported by studies showing that ectopically produced LEM-D proteins have distinct capacities to rescue the tissue-specific phenotypes found in single lem-d mutants. Our findings predict that cell-specific mutant phenotypes caused by loss of LEM-D proteins reflect both the constellation of LEM-D proteins within the nuclear lamina and the capacity of functional compensation of the remaining LEM-D proteins. PMID:24700158

Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome.

PubMed

Wolters, Pamela L; Gropman, Andrea L; Martin, Staci C; Smith, Michaele R; Hildenbrand, Hanna L; Brewer, Carmen C; Smith, Ann C M

2009-10-01

Systematic data regarding early neurodevelopmental functioning in Smith-Magenis syndrome are limited. Eleven children with Smith-Magenis syndrome less than 3 years of age (mean, 19 months; range, 5-34 months) received prospective multidisciplinary assessments using standardized measures. The total sample scored in the moderately to severely delayed range in cognitive functioning, expressive language, and motor skills and exhibited generalized hypotonia, oral-motor abnormalities, and middle ear dysfunction. Socialization skills were average, and significantly higher than daily living, communication, and motor abilities, which were below average. Mean behavior ratings were in the nonautistic range. According to exploratory analyses, the toddler subgroup scored significantly lower than the infant subgroup in cognition, expressive language, and adaptive behavior, suggesting that the toddlers were more delayed than the infants relative to their respective peers. Infants aged approximately 1 year or younger exhibited cognitive, language, and motor skills that ranged from average to delayed, but with age-appropriate social skills and minimal maladaptive behaviors. At ages 2 to 3 years, the toddlers consistently exhibited cognitive, expressive language, adaptive behavior, and motor delays and mildly to moderately autistic behaviors. Combining age groups in studies may mask developmental and behavioral differences. Increased knowledge of these early neurodevelopmental characteristics should facilitate diagnosis and appropriate intervention.

How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.

PubMed

Lorenzoni, Paulo José; Scola, Rosana Herminia; Kay, Claudia Suemi Kamoi; Werneck, Lineu Cesar; Horvath, Rita; Lochmüller, Hanns

2018-06-01

Congenital myasthenic syndromes (CMS) are heterogeneous genetic diseases in which neuromuscular transmission is compromised. CMS resembling the Lambert-Eaton myasthenic syndrome (CMS-LEMS) are emerging as a rare group of distinct presynaptic CMS that share the same electrophysiological features. They have low compound muscular action potential amplitude that increment after brief exercise (facilitation) or high-frequency repetitive nerve stimulation. Although clinical signs similar to LEMS can be present, the main hallmark is the electrophysiological findings, which are identical to autoimmune LEMS. CMS-LEMS occurs due to deficits in acetylcholine vesicle release caused by dysfunction of different components in its pathway. To date, the genes that have been associated with CMS-LEMS are AGRN, SYT2, MUNC13-1, VAMP1, and LAMA5. Clinicians should keep in mind these newest subtypes of CMS-LEMS to achieve the correct diagnosis and therapy. We believe that CMS-LEMS must be included as an important diagnostic clue to genetic investigation in the diagnostic algorithms to CMS. We briefly review the main features of CMS-LEMS.

Can lemmings control the expansion of woody plants on tundra?

NASA Astrophysics Data System (ADS)

Oksanen, Lauri; Oksanen, Tarja; Olofsson, Johan; Virtanen, Risto; Hoset, Katrine; Tuomi, Maria; Kyrö, Kukka

2013-04-01

The ongoing expansion of woody vegetation in the arctic, due to global warming, creates a positive feed back loop. Increasing abundance of woody plants reduces surface albedo both directly and via speeding up snow melt. Thus a successively greater fraction of incoming solar radiation is absorbed and converted to heat. Browsing mammals - both big and small - can prevent this by consuming woody plants. However, the grazer/browser community of many tundra areas is dominated by brown/Norwegian lemmings (Lemmus spp.) which eat graminoids and mosses and cannot use woody plants as forage. It would seem a priori likely that in such areas, mammalian herbivores speed up the expansion of woody plants by improving the chances of their seedlings to get established. We studied the impact of lemmings on woody plants by constructing lemming proof exclosures within piece high-altitude tundra at Joatkanjávri, northernmost Norway. The exclosures were constructed in 1998, during a period of low lemming densities, in snow-beds, where Norwegian lemmings (L. lemmus) were the only ecologically significant herbivorous mammals. (Reindeer migrate through the area in May, when snow-beds are inaccessible for them; during the fall migration, the area represents a dead end and is therefore avoided.) We chose pairs of maximally similar vegetation patches of 0.5 by 0.5 m and randomly assigned one of each pair to become an exclosure while the other plot was left open. The initial state of the vegetation was documented by the point frequency method. In 2008, after the 2007 lemming outbreak, the same documentation was repeated; thereafter the plots were harvested, the vegetation was sorted to species, oven dried and weighed. Exclusion of lemmings resulted to pronounced increase in community level plant biomass. Evergreen woody plants were especially favored by the exclusion of lemming: their above-ground biomass in exclosures was 14 times as great as their biomass on open reference plots. The

Sensory Motor and Functional Skills of Dizygotic Twins: One with Smith-Magenis Syndrome and a Twin Control

ERIC Educational Resources Information Center

Smith, Michaele R.; Hildenbrand, Hanna; Smith, Ann C. M.

2009-01-01

Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive…

Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism[S

PubMed Central

Boenzi, Sara; Deodato, Federica; Taurisano, Roberta; Goffredo, Bianca Maria; Rizzo, Cristiano; Dionisi-Vici, Carlo

2016-01-01

Oxysterols are intermediates of cholesterol metabolism and are generated from cholesterol via either enzymatic or nonenzymatic pathways under oxidative stress conditions. Cholestan-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC) have been proposed as new biomarkers for the diagnosis of Niemann-Pick type C (NP-C) disease, representing an alternative tool to the invasive and time-consuming method of fibroblast filipin test. To test the efficacy of plasma oxysterol determination for the diagnosis of NP-C, we systematically screened oxysterol levels in patients affected by different inherited disorders related with cholesterol metabolism, which included Niemann-Pick type B (NP-B) disease, lysosomal acid lipase (LAL) deficiency, Smith-Lemli-Opitz syndrome (SLOS), congenital familial hypercholesterolemia (FH), and sitosterolemia (SITO). As expected, NP-C patients showed significant increase of both C-triol and 7-KC. Strong increase of both oxysterols was observed in NP-B and less pronounced in LAL deficiency. In SLOS, only 7-KC was markedly increased, whereas in both FH and in SITO, oxysterol concentrations were normal. Interestingly, in NP-C alone, we observed that plasma oxysterols correlate negatively with patient’s age and positively with serum total bilirubin, suggesting the potential relationship between oxysterol levels and hepatic disease status. Our results indicate that oxysterols are reliable and sensitive biomarkers of NP-C. PMID:26733147

Auditory Phenotype of Smith-Magenis Syndrome.

PubMed

Brendal, Megan A; King, Kelly A; Zalewski, Christopher K; Finucane, Brenda M; Introne, Wendy; Brewer, Carmen C; Smith, Ann C M

2017-04-14

The purpose of this study was to describe the auditory phenotype of a large cohort with Smith-Magenis syndrome (SMS), a rare disorder including physical anomalies, cognitive deficits, sleep disturbances, and a distinct behavioral phenotype. Hearing-related data were collected for 133 individuals with SMS aged 1-49 years. Audiogram data (97 participants) were used for cross-sectional and longitudinal analyses. Caregivers completed a sound sensitivity survey for 98 individuals with SMS and a control group of 24 unaffected siblings. Nearly 80% of participants with interpretable audiograms (n = 76) had hearing loss, which was typically slight to mild in degree. When hearing loss type could be determined (40 participants), sensorineural hearing loss (48.1%) occurred most often in participants aged 11-49 years. Conductive hearing loss (35.2%) was typically observed in children aged 1-10 years. A pattern of fluctuating and progressive hearing decline was documented. Hyperacusis was reported in 73.5% of participants with SMS compared with 12.5% of unaffected siblings. This study offers the most comprehensive characterization of the auditory phenotype of SMS to date. The auditory profile in SMS is multifaceted and can include a previously unreported manifestation of hyperacusis. Routine audiologic surveillance is recommended as part of standard clinical care.

Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome.

PubMed

Laje, Gonzalo; Bernert, Rebecca; Morse, Rebecca; Pao, Maryland; Smith, Ann C M

2010-11-15

Smith-Magenis syndrome (SMS) is a complex genetic syndrome caused by an interstitial deletion of chromosome 17p11.2. Children and adults with SMS appear to have unique neurobehavioral problems that include: sleep disturbance, self-injurious and maladaptive behaviors, stereotypies, and sensory integration disorders. We gathered retrospective psychotropic use information from parents or other caregivers of 62 individuals with SMS who were asked about use of psychotropic medication from a list of commonly used psychiatric medications. For those drugs identified, respondents were asked to rate the experience with the particular medication using a likert-type scale. Drugs were grouped into seven main categories: (1) stimulants; (2) antidepressants; (3) antipsychotics; (4) sleep aides; (5) mood stabilizers; (6) alpha 2 agonists; and (7) benzodiazepines. Relative frequencies, means and standard deviations pertaining to age and medication effect were derived for each medication category. Six of the seven medication categories examined showed no meaningful deviations from the "no change" score. The benzodiazepine group showed a mild detrimental effect. There were no gender differences in efficacy. Use of psychotropic medication started early in life (mean age 5 years), particularly with sleep aides. Although no medication category was identified as efficacious in SMS, all the categories reported herein may be considered as an option for brief symptomatic relief.

Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome

PubMed Central

Esteves, Kristyn M.; Towne, Meghan C.; Brownstein, Catherine A.; James, Philip M.; Crowley, Laura; Hirschhorn, Joel N.; Elsea, Sarah H.; Beggs, Alan H.; Picker, Jonathan

2015-01-01

Context: The current obesity epidemic is attributed to complex interactions between genetic and environmental factors. However, a limited number of cases, especially those with early-onset severe obesity, are linked to single gene defects. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is one of the syndromes that presents with abrupt-onset extreme weight gain with an unknown genetic basis. Objective: To identify the underlying genetic etiology in a child with morbid early-onset obesity, hypoventilation, and autonomic and behavioral disturbances who was clinically diagnosed with ROHHAD syndrome. Design/Setting/Intervention: The index patient was evaluated at an academic medical center. Whole-exome sequencing was performed on the proband and his parents. Genetic variants were validated by Sanger sequencing. Results: We identified a novel de novo nonsense mutation, c.3265 C>T (p.R1089X), in the retinoic acid-induced 1 (RAI1) gene in the proband. Mutations in the RAI1 gene are known to cause Smith-Magenis syndrome (SMS). On further evaluation, his clinical features were not typical of either SMS or ROHHAD syndrome. Conclusions: This study identifies a de novo RAI1 mutation in a child with morbid obesity and a clinical diagnosis of ROHHAD syndrome. Although extreme early-onset obesity, autonomic disturbances, and hypoventilation are present in ROHHAD, several of the clinical findings are consistent with SMS. This case highlights the challenges in the diagnosis of ROHHAD syndrome and its potential overlap with SMS. We also propose RAI1 as a candidate gene for children with morbid obesity. PMID:25781356

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

PubMed

Thaker, Vidhu V; Esteves, Kristyn M; Towne, Meghan C; Brownstein, Catherine A; James, Philip M; Crowley, Laura; Hirschhorn, Joel N; Elsea, Sarah H; Beggs, Alan H; Picker, Jonathan; Agrawal, Pankaj B

2015-05-01

The current obesity epidemic is attributed to complex interactions between genetic and environmental factors. However, a limited number of cases, especially those with early-onset severe obesity, are linked to single gene defects. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is one of the syndromes that presents with abrupt-onset extreme weight gain with an unknown genetic basis. To identify the underlying genetic etiology in a child with morbid early-onset obesity, hypoventilation, and autonomic and behavioral disturbances who was clinically diagnosed with ROHHAD syndrome. Design/Setting/Intervention: The index patient was evaluated at an academic medical center. Whole-exome sequencing was performed on the proband and his parents. Genetic variants were validated by Sanger sequencing. We identified a novel de novo nonsense mutation, c.3265 C>T (p.R1089X), in the retinoic acid-induced 1 (RAI1) gene in the proband. Mutations in the RAI1 gene are known to cause Smith-Magenis syndrome (SMS). On further evaluation, his clinical features were not typical of either SMS or ROHHAD syndrome. This study identifies a de novo RAI1 mutation in a child with morbid obesity and a clinical diagnosis of ROHHAD syndrome. Although extreme early-onset obesity, autonomic disturbances, and hypoventilation are present in ROHHAD, several of the clinical findings are consistent with SMS. This case highlights the challenges in the diagnosis of ROHHAD syndrome and its potential overlap with SMS. We also propose RAI1 as a candidate gene for children with morbid obesity.

Agrypnia excitata in a patient with progeroid short stature and pigmented Nevi (Mulvihill-Smith syndrome).

PubMed

Ferri, Raffaele; Lanuzza, Bartolo; Cosentino, Filomena I I; Iero, Ivan; Russo, Noemi; Tripodi, Mariangela; Bosco, Paolo

2005-12-01

We report the video-polysomnographic sleep characteristics of a 25-year-old woman with the Mulvihill-Smith syndrome, a rare clinical condition characterized by progeria-like aspect, peculiar multiple pigmented nevi, low stature, and cognitive impairment. Among the various exams, two overnight video-polysomnographic recordings were carried out; moreover, cerebral MRI and molecular analysis of the prion protein gene (PRNP) were also performed. The video-polysomnographic recordings showed the absence of clear sleep episodes but the presence of periods during which the patient had poor contact with the environment, stereotyped afinalistic movements of the upper limbs and hands, irregular or periodic breathing (with central apnea episodes), heart rate arrhythmia, and rapid eye movements. Cerebral MRI showed only diffuse mild enlargement of the cortical sulci and the molecular genetics analysis of the PRNP was normal. Our clinical and neurophysiological study seems to indicate that a particular condition of severe sleep disruption, similar to some extent to that reported in the fatal familial insomnia and in the Morvan fibrillary chorea, which has been indicated as Agrypnia Excitata in recent literature, might be associated with the Mulvihill-Smith syndrome. The inclusion of a detailed study on the sleep characteristics of eventual additional patients will certainly help our understanding of this rare condition.

Calcium channel autoantibodies in myasthenic syndrome and small cell lung cancer.

PubMed

Pelucchi, A; Ciceri, E; Clementi, F; Marazzini, L; Foresi, A; Sher, E

1993-05-01

Lambert-Eaton myasthenic syndrome (LEMS) is one of the neurologic paraneoplastic syndromes often found in patients with lung cancer. It is characterized by a generalized deficit of neurotransmitter release. Patients with small cell lung cancer (SCLC) in particular may develop LEMS, and SCLC is very often detected in patients affected by LEMS. LEMS is an autoimmune disease, and autoantibodies that interfere with neurotransmitter release by binding to presynaptic voltage-operated calcium channels (VOCCs) have been found in sera of patients with LEMS. Both human neuronal and SCLC cell lines express omega-conotoxin-sensitive VOCCs, and autoantibodies from patients affected by LEMS can precipitate these channels. We have now screened a large population of patients and control subjects in order to define the specificity and sensitivity of the anti-VOCC antibody assay. We have tested sera from 52 patients with LEMS with and without SCLC; 32 sera from patients with SCLC without LEMS, 31 from patients with non-SCLC, 34 from patients with inflammatory lung diseases, 17 from patients with other neurologic disorders, and 48 from healthy control subjects. We have found that a positive result with this radioimmunoassay is highly specific for LEMS, with or without SCLC, when the antibody titer is higher than 14.21 pM. Anti-VOCC antibodies have also been found in about 40% of patients with SCLC without LEMS, but they were absent in all the other populations tested. We can conclude that this serologic assay is a very useful aid in the diagnosis of LEMS, and it might be useful also for the early diagnosis of SCLC.

LEM-3 is a midbody-tethered DNA nuclease that resolves chromatin bridges during late mitosis.

PubMed

Hong, Ye; Sonneville, Remi; Wang, Bin; Scheidt, Viktor; Meier, Bettina; Woglar, Alexander; Demetriou, Sarah; Labib, Karim; Jantsch, Verena; Gartner, Anton

2018-02-20

Faithful chromosome segregation and genome maintenance requires the removal of all DNA bridges that physically link chromosomes before cells divide. Using C. elegans embryos we show that the LEM-3/Ankle1 nuclease defines a previously undescribed genome integrity mechanism by processing DNA bridges right before cells divide. LEM-3 acts at the midbody, the structure where abscission occurs at the end of cytokinesis. LEM-3 localization depends on factors needed for midbody assembly, and LEM-3 accumulation is increased and prolonged when chromatin bridges are trapped at the cleavage plane. LEM-3 locally processes chromatin bridges that arise from incomplete DNA replication, unresolved recombination intermediates, or the perturbance of chromosome structure. Proper LEM-3 midbody localization and function is regulated by AIR-2/Aurora B kinase. Strikingly, LEM-3 acts cooperatively with the BRC-1/BRCA1 homologous recombination factor to promote genome integrity. These findings provide a molecular basis for the suspected role of the LEM-3 orthologue Ankle1 in human breast cancer.

Siblings of Individuals with Smith-Magenis Syndrome: An Investigation of the Correlates of Positive and Negative Behavioural Traits

ERIC Educational Resources Information Center

Moshier, M. S.; York, T. P.; Silberg, J. L.; Elsea, S. H.

2012-01-01

Background: Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder that affects approximately one out of 25 000 births worldwide. To date, no research has been conducted to investigate how having an individual with SMS in a family is a positive or negative influence on siblings. Methods: To investigate this question we conducted a study…

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

Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.

PubMed

Boenzi, Sara; Deodato, Federica; Taurisano, Roberta; Goffredo, Bianca Maria; Rizzo, Cristiano; Dionisi-Vici, Carlo

2016-03-01

Oxysterols are intermediates of cholesterol metabolism and are generated from cholesterol via either enzymatic or nonenzymatic pathways under oxidative stress conditions. Cholestan-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC) have been proposed as new biomarkers for the diagnosis of Niemann-Pick type C (NP-C) disease, representing an alternative tool to the invasive and time-consuming method of fibroblast filipin test. To test the efficacy of plasma oxysterol determination for the diagnosis of NP-C, we systematically screened oxysterol levels in patients affected by different inherited disorders related with cholesterol metabolism, which included Niemann-Pick type B (NP-B) disease, lysosomal acid lipase (LAL) deficiency, Smith-Lemli-Opitz syndrome (SLOS), congenital familial hypercholesterolemia (FH), and sitosterolemia (SITO). As expected, NP-C patients showed significant increase of both C-triol and 7-KC. Strong increase of both oxysterols was observed in NP-B and less pronounced in LAL deficiency. In SLOS, only 7-KC was markedly increased, whereas in both FH and in SITO, oxysterol concentrations were normal. Interestingly, in NP-C alone, we observed that plasma oxysterols correlate negatively with patient's age and positively with serum total bilirubin, suggesting the potential relationship between oxysterol levels and hepatic disease status. Our results indicate that oxysterols are reliable and sensitive biomarkers of NP-C. Copyright © 2016 by the American Society for Biochemistry and Molecular Biology, Inc.

Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments.

PubMed

Horvat, Simon; McWhir, Jim; Rozman, Damjana

2011-02-01

This review describes the mouse knockout models of cholesterol synthesis, together with human malformations and drugs that target cholesterogenic enzymes. Generally, the sooner a gene acts in cholesterol synthesis, the earlier the phenotype occurs. Humans with loss of function of early cholesterogenic enzymes have not yet been described, and in the mouse, loss of Hmgcr is preimplantation lethal. Together, these results indicate that the widely prescribed cholesterol-lowering statins are potentially teratogenic. The Mvk knockout is early embryonic lethal in the mouse, the absence of Fdft1 is lethal at E9.5-12.5 dpc, while the Cyp51 knockouts die at 15.0 dpc. Fungal CYP51 inhibitor azoles are teratogenic in humans, potentially leading to symptoms of Antley-Bixler syndrome. The X-linked mutations in Nsdhl and Ebp are embryonic lethal in male mice, while heterozygous females are also affected. Consequently, the anticancer drugs, tamoxifen and toremifene, inhibiting human EBP, may be harmful in early pregnancy. The Dhcr7 and Dhcr24 knockout mice die shortly after birth, while humans survive with Smith-Lemli-Opitz syndrome or desmosterolosis. Since cholesterol is essential for hedgehog signaling, disturbance of this pathway by antipsychotics and -depressants explains some drug side effects. In conclusion, defects in cholesterol synthesis are generally lethal in mice, while humans with impaired later steps of the pathway can survive with severe malformations. Evidence shows that drugs targeting or, by coincidence, inhibiting human cholesterol synthesis are better avoided in early pregnancy. Since some drugs with teratogenic potential still stay on the market, this should be avoided in new cholesterol-related drug development.

Cognitive functioning in children and adults with Smith-Magenis syndrome.

PubMed

Osório, Ana; Cruz, Raquel; Sampaio, Adriana; Garayzábal, Elena; Carracedo, Angel; Fernández-Prieto, Montse

2012-06-01

Smith-Magenis Syndrome (SMS) is a genetic neurodevelopmental disorder caused by a microdeletion on chromosome 17p11.2. This syndrome is characterized by a distinctive profile of physical, medical and neuropsychological characteristics. The latter include general mental disability, with the majority of individuals falling within the mild to moderate range. This study reports a detailed cognitive assessment of children and adults with SMS with the use of the Wechsler intelligence scales at three distinct levels of analysis: full scale IQ, factorial indices, and subtests. Child and adult samples were each compared to samples of age and gender-matched typically developing individuals. To our knowledge, this is the first study to systematically analyse the cognitive profile of individuals with SMS in Southern Europe. The present study confirmed mental disability, particularly within the moderate category, as a consistent feature of children and adults with SMS. Furthermore, both child and adult samples evidenced significant impairments in all four indices when compared with their typically developing counterparts. A specific pattern of strengths and weaknesses was discernible for both samples, with Verbal Comprehension emerging as a relative strength, whereas Working Memory appeared as a relative weakness. Finally, with the exception of two subtests in the perceptual domain, we found no evidence for a general cognitive decline with age. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Of lemmings and snowshoe hares: the ecology of northern Canada

PubMed Central

Krebs, Charles J.

2011-01-01

Two population oscillations dominate terrestrial community dynamics in northern Canada. In the boreal forest, the snowshoe hare (Lepus americanus) fluctuates in cycles with an 8–10 year periodicity and in tundra regions lemmings typically fluctuate in cycles with a 3–4 year periodicity. I review 60 years of research that has uncovered many of the causes of these population cycles, outline areas of controversy that remain and suggest key questions to address. Lemmings are keystone herbivores in tundra ecosystems because they are a key food resource for many avian and mammalian predators and are a major consumer of plant production. There remains much controversy over the role of predation, food shortage and social interactions in causing lemming cycles. Predation is well documented as a significant mortality factor limiting numbers. Food shortage is less likely to be a major limiting factor on population growth in lemmings. Social interactions might play a critical role in reducing the rate of population growth as lemming density rises. Snowshoe hares across the boreal forest are a key food for many predators and their cycles have been the subject of large-scale field experiments that have pinpointed predation as the key limiting factor causing these fluctuations. Predators kill hares directly and indirectly stress them by unsuccessful pursuits. Stress reduces the reproductive rate of female hares and is transmitted to their offspring who also suffer reduced reproductive rates. The maternal effects produced by predation risk induce a time lag in the response of hare reproductive rate to density, aiding the cyclic dynamics. PMID:20980307

Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.

PubMed

Adam, Margaret P; Hennekam, Raoul C M; Keppen, Laura Davis; Bull, Marilyn J; Clericuzio, Carol L; Burke, Leah W; Ormond, Kelly E; Hoyme, Eugene H

2005-08-30

The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. At least 33 cases have been reported in the literature, mostly as single case reports or small series. The purpose of the present study is to report on the clinical findings and natural history of MSS in five children and to review the features of three others previously reported, with particular attention to the skeletal and connective tissue findings. Our study demonstrates an increased rate of nontraumatic fractures and other bony and connective tissue abnormalities that support the hypothesis that MSS should be considered an osteochondrodysplasia. In addition, long-term survival beyond infancy is possible if respiratory problems are expectantly and aggressively managed. (c) 2005 Wiley-Liss, Inc.

Aase syndrome

MedlinePlus

Aase-Smith syndrome; Hypoplastic anemia - triphalangeal thumbs, Aase-Smith type ... Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation . 7th ed. Philadelphia, ...

Body Temperature and Energy Metabolism of Brown Lemming in Relation to Running Speed,

DTIC Science & Technology

1979-01-01

ADASOG 382 ARCTIC INST OF NORTH AMERICA ARLINGTON VA F/B 6/16 BOOT TEMPERATURE AND ENERGY METABOLISM OF BROWN LEMMING IN RELA--ETC(U) W4LSIID 1979 T...M CASEY N00014-75-C-0635UNCLASSIFIEDh l o I - Body temperature and energy metabolism *of brown lemming in relation to running speed) by Timothy M...Casey Dept. of E. Physiology Cook College, Rutgers University New Brunswick, New Jersey 08903 C2 Running head: Metabolism and Tb of running lemmings. ALU

Autism Spectrum Features in Smith-Magenis Syndrome

PubMed Central

Laje, Gonzalo; Morse, Rebecca; Richter, William; Ball, Jonathan; Pao, Maryland; Smith, Ann C.M.

2010-01-01

Smith-Magenis syndrome (SMS; OMIM 182290) is a neurodevelopmental disorder characterized by a well-defined pattern of anomalies. The majority of cases are due to a common deletion in chromosome 17p11.2 that includes the RAI1 gene. In children with SMS, autistic-like behaviors and symptoms start to emerge around 18 months of age. This study included 26 individuals (15 females and 11 males), with a confirmed deletion (del 17p11.2). Parents/caregivers were asked to complete the Social Responsiveness Scale (SRS) and the Social Communication Questionnaire (SCQ) both current and lifetime versions. The results suggest that 90% of the sample had SRS scores consistent with autism spectrum disorders. Moreover, females showed more impairment in total T-scores (p=0.02) and in the social cognition (p=0.01) and autistic mannerisms (p=0.002) subscales. The SCQ scores are consistent to show that a majority of individuals may meet criteria for autism spectrum disorders at some point in their lifetime. These results suggest that SMS needs to be considered in the differential diagnosis of autism spectrum disorders but also that therapeutic interventions for autism are likely to benefit individuals with SMS. The mechanisms by which the deletion of RAI1 and contiguous genes cause psychopathology remain unknown but they provide a solid starting point for further studies of gene-brain-behavior interactions in SMS and autism spectrum disorders. PMID:20981775

Autism spectrum features in Smith-Magenis syndrome.

PubMed

Laje, Gonzalo; Morse, Rebecca; Richter, William; Ball, Jonathan; Pao, Maryland; Smith, Ann C M

2010-11-15

Smith-Magenis syndrome (SMS; OMIM 182290) is a neurodevelopmental disorder characterized by a well-defined pattern of anomalies. The majority of cases are due to a common deletion in chromosome 17p11.2 that includes the RAI1 gene. In children with SMS, autistic-like behaviors and symptoms start to emerge around 18 months of age. This study included 26 individuals (15 females and 11 males), with a confirmed deletion (del 17p11.2). Parents/caregivers were asked to complete the Social Responsiveness Scale (SRS) and the Social Communication Questionnaire (SCQ) both current and lifetime versions. The results suggest that 90% of the sample had SRS scores consistent with autism spectrum disorders. Moreover, females showed more impairment in total T-scores (P = 0.02), in the social cognition (P = 0.01) and autistic mannerisms (P = 0.002) subscales. The SCQ scores are consistent to show that a majority of individuals may meet criteria for autism spectrum disorders at some point in their lifetime. These results suggest that SMS needs to be considered in the differential diagnosis of autism spectrum disorders but also that therapeutic interventions for autism are likely to benefit individuals with SMS. The mechanisms by which the deletion of RAI1 and contiguous genes cause psychopathology remain unknown but they provide a solid starting point for further studies of gene-brain-behavior interactions in SMS and autism spectrum disorders.

Analysis of the sensory profile in children with Smith-Magenis syndrome.

PubMed

Hildenbrand, Hanna L; Smith, Ann C M

2012-02-01

This study systematically assessed sensory processing in 34 children, aged 3-14 years, with Smith-Magenis syndrome (SMS) using the Sensory Profile Caregiver Questionnaire. Scores for the SMS cohort were significantly different from scores of the national sample of children with and without disabilities in all Sensory Profile categories and quadrants (p < .001). No main effects of age or gender were found, but an interaction effect of age by gender was found in Modulation of Sensory Input Affecting Emotional Responses, in which older females presented with the lowest scores. A significant decline over time was found in the Seeking pattern, reflecting increased vulnerability (p < .05). Nonsignificant trends suggest more vulnerabilities for older versus younger children, especially older females. The neurobehavioral phenotype in children with SMS is expanded by this description of sensory processing. How children with SMS experience and respond to everyday sensations informs multidisciplinary team decisions.

LEM2 recruits CHMP7 for ESCRT-mediated nuclear envelope closure in fission yeast and human cells

PubMed Central

Gu, Mingyu; LaJoie, Dollie; Chen, Opal S.; von Appen, Alexander; Ladinsky, Mark S.; Redd, Michael J.; Nikolova, Linda; Bjorkman, Pamela J.; Sundquist, Wesley I.; Ullman, Katharine S.; Frost, Adam

2017-01-01

Endosomal sorting complexes required for transport III (ESCRT-III) proteins have been implicated in sealing the nuclear envelope in mammals, spindle pole body dynamics in fission yeast, and surveillance of defective nuclear pore complexes in budding yeast. Here, we report that Lem2p (LEM2), a member of the LEM (Lap2-Emerin-Man1) family of inner nuclear membrane proteins, and the ESCRT-II/ESCRT-III hybrid protein Cmp7p (CHMP7), work together to recruit additional ESCRT-III proteins to holes in the nuclear membrane. In Schizosaccharomyces pombe, deletion of the ATPase vps4 leads to severe defects in nuclear morphology and integrity. These phenotypes are suppressed by loss-of-function mutations that arise spontaneously in lem2 or cmp7, implying that these proteins may function upstream in the same pathway. Building on these genetic interactions, we explored the role of LEM2 during nuclear envelope reformation in human cells. We found that CHMP7 and LEM2 enrich at the same region of the chromatin disk periphery during this window of cell division and that CHMP7 can bind directly to the C-terminal domain of LEM2 in vitro. We further found that, during nuclear envelope formation, recruitment of the ESCRT factors CHMP7, CHMP2A, and IST1/CHMP8 all depend on LEM2 in human cells. We conclude that Lem2p/LEM2 is a conserved nuclear site-specific adaptor that recruits Cmp7p/CHMP7 and downstream ESCRT factors to the nuclear envelope. PMID:28242692

Myopericarditis in acquired immunodeficiency syndrome diagnosed by gallium scintigraphy.

PubMed Central

Cregler, L. L.; Sosa, I.; Ducey, S.; Abbey, L.

1990-01-01

Myocarditis is among the cardiac complications of acquired immunodeficiency syndrome and, yet, is often not discovered until autopsy. Gallium scintigraphy has been employed in diagnosing this entity, but few data are available about its diagnostic accuracy and value. Here, the authors report two cases of myopericarditis as diagnosed by gallium scan. Images Figure 1 Figure 2 PMID:2398508

Methods of diagnosing alagille syndrome

DOEpatents

Li, Linheng; Hood, Leroy; Krantz, Ian D.; Spinner, Nancy B.

2004-03-09

The present invention provides an isolated polypeptide exhibiting substantially the same amino acid sequence as JAGGED, or an active fragment thereof, provided that the polypeptide does not have the amino acid sequence of SEQ ID NO:5 or SEQ ID NO:6. The invention further provides an isolated nucleic acid molecule containing a nucleotide sequence encoding substantially the same amino acid sequence as JAGGED, or an active fragment thereof, provided that the nucleotide sequence does not encode the amino acid sequence of SEQ ID NO:5 or SEQ ID NO:6. Also provided herein is a method of inhibiting differentiation of hematopoietic progenitor cells by contacting the progenitor cells with an isolated JAGGED polypeptide, or active fragment thereof. The invention additionally provides a method of diagnosing Alagille Syndrome in an individual. The method consists of detecting an Alagille Syndrome disease-associated mutation linked to a JAGGED locus.

Trends in abundance of collared lemmings near Cape Churchill, Manitoba, Canada

USGS Publications Warehouse

Reiter, M.E.; Andersen, D.E.

2008-01-01

Regular, multiannual cycles observed in the population abundance of small mammals in many arctic and subarctic ecosystems have stimulated substantial research, particularly among population ecologists. Hypotheses of mechanisms generating regular cycles include predator-prey interactions, limitation of food resources, and migration or dispersal, as well as abiotic factors such as cyclic climatic variation and environmental stochasticity. In 2004 and 2005, we used indirect methods to estimate trends in population size of Richardson's collared lemmings (Dicrostonyx richardsoni) retrospectively, and evaluated the extent of synchrony between lemming populations at 2 coastal tundra study areas separated by approximately 60 km near Cape Churchill, Manitoba, Canada. We collected scars on willow plants (Salix) resulting from lemming feeding. Ages of scars ranged from 0 to 13 years at both study areas. Scar-age frequency appeared cyclic and we used nonlinear Poisson regression to model the observed scar-age frequency. Lemming populations cycled with 2.8-year periodicity and the phase of the cycle was synchronous between the 2 study areas. We suggest that our approach could be applied in multiple settings and may provide the most efficient way to gather data on small mammals across both space and time in a diversity of landscapes. ?? 2008 American Society of Mammalogists.

Highly Overlapping Winter Diet in Two Sympatric Lemming Species Revealed by DNA Metabarcoding

PubMed Central

Soininen, Eeva M.; Gauthier, Gilles; Bilodeau, Frédéric; Berteaux, Dominique; Gielly, Ludovic; Taberlet, Pierre; Gussarova, Galina; Bellemain, Eva; Hassel, Kristian; Stenøien, Hans K.; Epp, Laura; Schrøder-Nielsen, Audun; Brochmann, Christian; Yoccoz, Nigel G.

2015-01-01

Sympatric species are expected to minimize competition by partitioning resources, especially when these are limited. Herbivores inhabiting the High Arctic in winter are a prime example of a situation where food availability is anticipated to be low, and thus reduced diet overlap is expected. We present here the first assessment of diet overlap of high arctic lemmings during winter based on DNA metabarcoding of feces. In contrast to previous analyses based on microhistology, we found that the diets of both collared (Dicrostonyx groenlandicus) and brown lemmings (Lemmus trimucronatus) on Bylot Island were dominated by Salix while mosses, which were significantly consumed only by the brown lemming, were a relatively minor food item. The most abundant plant taxon, Cassiope tetragona, which alone composes more than 50% of the available plant biomass, was not detected in feces and can thus be considered to be non-food. Most plant taxa that were identified as food items were consumed in proportion to their availability and none were clearly selected for. The resulting high diet overlap, together with a lack of habitat segregation, indicates a high potential for resource competition between the two lemming species. However, Salix is abundant in the winter habitats of lemmings on Bylot Island and the non-Salix portion of the diets differed between the two species. Also, lemming grazing impact on vegetation during winter in the study area is negligible. Hence, it seems likely that the high potential for resource competition predicted between these two species did not translate into actual competition. This illustrates that even in environments with low primary productivity food resources do not necessarily generate strong competition among herbivores. PMID:25635852

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

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

Greenberg, F.; Lewis, R.A.; Potocki, L.

1996-03-29

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic neurologic, developmental, ophthalmologic, otolaryngologic, and audiologic evaluations were performed on 27 SMS patients. Significant findings include otolaryngologic abnormalities in 94%, eye abnormalities in 85%, sleep abnormalities (especially reduced REM sleep) in 75%, hearing impairment in 68% (approximately 65% conductive and 35% sensorineural), scoliosis in 65% brain abnormalities (predominantly ventriculomegaly) in 52%, cardiac abnormalities in at least 37%, renal anomalies (especially duplication of themore » collecting system) in 35%, low thyroxine levels in 29%, low immunoglobulin levels in 23%, and forearm abnormalities in 16%. The measured IQ ranged between 20-78, most patients falling in the moderate range of mental retardation at 40-54, although several patients scored in the mild or borderline range. The frequency of these many abnormalities in SMS suggests that patients should be evaluated thoroughly for associated complications both at the time of diagnosis and at least annually thereafter. 42 refs., 2 figs., 3 tabs.« less

Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice.

PubMed

Yu, Hongwei; Li, Man; Tint, G Stephen; Chen, Jianliang; Xu, Guorong; Patel, Shailendra B

2007-04-04

Targeted disruption of the murine 3beta-hydroxysterol-Delta7-reductase gene (Dhcr7), an animal model of Smith-Lemli-Opitz syndrome, leads to loss of cholesterol synthesis and neonatal death that can be partially rescued by transgenic replacement of DHCR7 expression in brain during embryogenesis. To gain further insight into the role of non-brain tissue cholesterol deficiency in the pathophysiology, we tested whether the lethal phenotype could be abrogated by selective transgenic complementation with DHCR7 expression in the liver. We generated mice that carried a liver-specific human DHCR7 transgene whose expression was driven by the human apolipoprotein E (ApoE) promoter and its associated liver-specific enhancer. These mice were then crossed with Dhcr7+/- mutants to generate Dhcr7-/- mice bearing a human DHCR7 transgene. Robust hepatic transgene expression resulted in significant improvement of cholesterol homeostasis with cholesterol concentrations increasing to 80~90 % of normal levels in liver and lung. Significantly, cholesterol deficiency in brain was not altered. Although late gestational lung sacculation defect reported previously was significantly improved, there was no parallel increase in postnatal survival in the transgenic mutant mice. The reconstitution of DHCR7 function selectively in liver induced a significant improvement of cholesterol homeostasis in non-brain tissues, but failed to rescue the neonatal lethality of Dhcr7 null mice. These results provided further evidence that CNS defects caused by Dhcr7 null likely play a major role in the lethal pathogenesis of Dhcr7-/- mice, with the peripheral organs contributing the morbidity.

Oxysterols from Free Radical Chain Oxidation of 7-Dehydrocholesterol: Product and Mechanistic Studies

PubMed Central

Xu, Libin; Korade, Zeljka; Porter, Ned A.

2010-01-01

Free radical chain oxidation of highly oxidizable 7-dehydrocholesterol (7-DHC) initiated by 2,2′-azobis(4-methoxy-2,4-dimethylvaleronitrile) was carried out at 37°C in benzene for 24 hours. Fifteen oxysterols derived from 7-DHC were isolated and characterized with 1D- and 2D-NMR spectroscopy and mass spectrometry. A mechanism that involves abstraction of hydrogen atoms at C-9 and/or C-14 is proposed to account for the formation of all of the oxysterols and the reaction progress profile. In either the H-9 or H-14 mechanism, a pentadienyl radical intermediate is formed after abstraction of H-9 or H-14 by a peroxyl radical. This step is followed by the well-precedented transformations observed in peroxidation reactions of polyunsaturated fatty acids such as oxygen addition, peroxyl radical 5-exo cyclization, and SHi carbon radical attack on the peroxide bond. The mechanism for peroxidation of 7-DHC also accounts for the formation of numerous oxysterol natural products isolated from fungal species, marine sponges, and cactaceous species. In a cell viability test, the oxysterol mixture from 7-DHC peroxidation was found to be cytotoxic to Neuro2a neuroblastoma cells in the micromolar concentration range. We propose that the high reactivity of 7-DHC and the oxysterols generated from its peroxidation may play important roles in the pathogenesis of Smith-Lemli-Opitz syndrome (SLOS), X-linked dominant chondrodysplasia punctata (CDPX2), and cerebrotendinous xanthomatosis (CTX), all of these being metabolic disorders having an elevated level of 7-DHC. PMID:20121089

Dichlorophenyl piperazines, including a recently-approved atypical antipsychotic, are potent inhibitors of DHCR7, the last enzyme in cholesterol biosynthesis.

PubMed

Genaro-Mattos, Thiago C; Tallman, Keri A; Allen, Luke B; Anderson, Allison; Mirnics, Karoly; Korade, Zeljka; Porter, Ned A

2018-06-15

While antipsychotic medications provide important relief from debilitating psychotic symptoms, they also have significant adverse side effects, which might have relevant impact on human health. Several research studies, including ours, have shown that commonly used antipsychotics such as haloperidol and aripiprazole affect cholesterol biosynthesis at the conversion of 7-dehydrocholesterol (7-DHC) to cholesterol. This transformation is promoted by the enzyme DHCR7 and its inhibition causes increases in plasma and tissue levels of 7-DHC. The inhibition of this enzymatic step by mutations in the Dhcr7 gene leads to Smith-Lemli-Opitz syndrome, a devastating human condition that can be replicated in rats by small molecule inhibitors of DHCR7. The fact that two compounds, brexpiprazole and cariprazine, that were recently approved by the FDA have substructural elements in common with the DHCR7 inhibitor aripiprazole, prompted us to evaluate the effect of brexpiprazole and cariprazine on cholesterol biosynthesis. We report that cariprazine affects levels of 7-DHC and cholesterol in cell culture incubations at concentrations as low as 5 nM. Furthermore, a common metabolite of cariprazine and aripiprazole, 2,3-(dichlorophenyl) piperazine, inhibits DHCR7 activity at concentrations comparable to those of the potent teratogen AY9944. The cell culture experiments were corroborated in mice in studies showing that treatment with cariprazine elevated 7-DHC in brain and serum. The consequences of sterol inhibition by antipsychotics in the developing nervous system and the safety of their use during pregnancy remains to be established. Copyright © 2018 Elsevier Inc. All rights reserved.

Inhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells.

PubMed

Kim, Hye-Young H; Korade, Zeljka; Tallman, Keri A; Liu, Wei; Weaver, C David; Mirnics, Karoly; Porter, Ned A

2016-05-16

A small library of pharmacologically active compounds (the NIH Clinical Collection) was assayed in Neuro2a cells to determine their effect on the last step in the biosynthesis of cholesterol, the transformation of 7-dehydrocholesterol (7-DHC) to cholesterol promoted by 7-dehydrocholesterol reductase, DHCR7. Of some 727 compounds in the NIH Clinical Collection, over 30 compounds significantly increased 7-DHC in Neuro2a cells when assayed at 1 μM. Active compounds that increased 7-DHC with a Z-score of +3 or greater generally gave rise to modest decreases in desmosterol and increases in lanosterol levels. Among the most active compounds identified in the library were the antipsychotic, antidepressant, and anxiolytic compounds that included perospirone, nefazodone, haloperidol, aripiprazole, trazodone, and buspirone. Fluoxetine and risperidone were also active at 1 μM, and another 10 compounds in this class of pharmaceuticals were identified in the screen at concentrations of 10 μM. Increased levels of 7-DHC are associated with Smith-Lemli-Opitz syndrome (SLOS), a human condition that results from a mutation in the gene that encodes DHCR7. The SLOS phenotype includes neurological deficits and congenital malformations, and it is linked to a higher incidence of autism spectrum disorder. The significance of the current study is that it identifies common pharmacological compounds that may induce a biochemical presentation similar to SLOS. Little is known about the side effects of elevated 7-DHC postdevelopmentally, and the elevated 7-DHC that results from exposure to these compounds may also be a confounder in the diagnosis of SLOS.

PET/CT in a Patient Diagnosed With Dandy-Walker Syndrome.

PubMed

Infante, Jose R; Garcia, Lucia; Rayo, Juan I; Serrano, Justo; Dominguez, Maria L; Moreno, Manuel

2016-01-01

The Dandy-Walker syndrome (DWS) is a rare congenital posterior fossa malformation characterized by aplasia or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. We present a 52-year-old Caucasian man diagnosed with gastrointestinal stromal tumor and submitted to 18F-FDG PET/CT as a staging procedure. The patient was previously diagnosed with DWS in brain CT scan. PET/CT images revealed an ametabolic large cyst in the posterior fossa and hypoplasia of cerebellar vermis. The case is presented with the aim to show the appearance of this syndrome on PET/CT study.

BORDERLINE PERSONALITY DISORDER IN THE MEDICAL SETTING: Suggestive Behaviors, Syndromes, and Diagnoses.

PubMed

Sansone, Randy A; Sansone, Lori A

2015-01-01

Borderline personality disorder is a personality dysfunction that is characterized by disinhibition and impulsivity, which oftentimes manifest as self-regulation difficulties. Patients with this disorder have always been present in medical settings, but have been described as "difficult patients" rather than patients with borderline personality disorder. According to empirical findings, a number of behaviors and medical syndromes/diagnoses are suggestive of borderline personality disorder. Suggestive behaviors in the medical setting may include aggressive or disruptive behaviors, the intentional sabotage of medical care, and excessive healthcare utilization. Suggestive medical syndromes and diagnoses in the medical setting may include alcohol and substance misuse (including the abuse of prescription medications), multiple somatic complaints, chronic pain, obesity, sexual impulsivity, and hair pulling. While not all-inclusive or diagnostic, these behaviors and syndromes/diagnoses may invite further clinical evaluation of the patient for borderline personality disorder.

Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome.

PubMed

Alaimo, Joseph T; Barton, Laura V; Mullegama, Sureni V; Wills, Rachel D; Foster, Rebecca H; Elsea, Sarah H

2015-12-01

Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder associated with intellectual disability, sleep disturbances, early onset obesity and vast behavioral deficits. We used the Behavior Problems Inventory-01 to categorize the frequency and severity of behavioral abnormalities in a SMS cohort relative to individuals with intellectual disability of heterogeneous etiology. Self-injurious, stereotyped, and aggressive/destructive behavioral scores indicated that both frequency and severity were significantly higher among individuals with SMS relative to those with intellectual disability. Next, we categorized food behaviors in our SMS cohort across age using the Food Related Problems Questionnaire (FRPQ) and found that problems began to occur in SMS children as early as 5-11 years old, but children 12-18 years old and adults manifested the most severe problems. Furthermore, we evaluated the similarities of SMS adult food-related behaviors to those with intellectual disability and found that SMS adults had more severe behavioral problems. Many neurodevelopmental disorders exhibit syndromic obesity including SMS. Prader-Willi syndrome (PWS) is the most frequent neurodevelopmental disorder with syndromic obesity and has a well-established management and treatment plan. Using the FRPQ we found that SMS adults had similar scores relative to PWS adults. Both syndromes manifest weight gain early in development, and the FRPQ scores highlight specific areas in which behavioral similarities exist, including preoccupation with food, impaired satiety, and negative behavioral responses. SMS food-related behavior treatment paradigms are not as refined as PWS, suggesting that current PWS treatments for prevention of obesity may be beneficial for individuals with SMS. Copyright © 2015 Elsevier Ltd. All rights reserved.

Indirect food web interactions mediated by predator–rodent dynamics: relative roles of lemmings and voles

PubMed Central

Ims, Rolf A.; Henden, John-André; Thingnes, Anders V.; Killengreen, Siw T.

2013-01-01

Production cycles in birds are proposed as prime cases of indirect interactions in food webs. They are thought to be driven by predators switching from rodents to bird nests in the crash phase of rodent population cycles. Although rodent cycles are geographically widespread and found in different rodent taxa, bird production cycles appear to be most profound in the high Arctic where lemmings dominate. We hypothesized that this may be due to arctic lemmings inducing stronger predator responses than boreal voles. We tested this hypothesis by estimating predation rates in dummy bird nests during a rodent cycle in low-Arctic tundra. Here, the rodent community consists of a spatially variable mix of one lemming (Lemmus lemmus) and two vole species (Myodes rufocanus and Microtus oeconomus) with similar abundances. In consistence with our hypothesis, lemming peak abundances predicted well crash-phase nest predation rates, whereas the vole abundances had no predictive ability. Corvids were found to be the most important nest predators. Lemmings appear to be accessible to the whole predator community which makes them particularly powerful drivers of food web dynamics. PMID:24173526

Faltering lemming cycles reduce productivity and population size of a migratory Arctic goose species

PubMed Central

Nolet, Bart A; Bauer, Silke; Feige, Nicole; Kokorev, Yakov I; Popov, Igor Yu; Ebbinge, Barwolt S

2013-01-01

1. The huge changes in population sizes of Arctic-nesting geese offer a great opportunity to study population limitation in migratory animals. In geese, population limitation seems to have shifted from wintering to summering grounds. There, in the Arctic, climate is rapidly changing, and this may impact reproductive performance, and perhaps population size of geese, both directly (e.g. by changes in snow melt) or indirectly (e.g. by changes in trophic interactions). 2. Dark-bellied brent geese (Branta bernicla bernicla L.) increased 20-fold since the 1950s. Its reproduction fluctuates strongly in concert with the 3-year lemming cycle. An earlier analysis, covering the growth period until 1988, did not find evidence for density dependence, but thereafter the population levelled off and even decreased. The question is whether this is caused by changes in lemming cycles, population density or other factors like carry-over effects. 3. Breeding success was derived from proportions of juveniles. We used an information-theoretical approach to investigate which environmental factors best explained the variation in breeding success over nearly 50 years (1960–2008). We subsequently combined GLM predictions of breeding success with published survival estimates to project the population trajectory since 1991 (year of maximum population size). In this way, we separated the effects of lemming abundance and population density on population development. 4. Breeding success was mainly dependent on lemming abundance, the onset of spring at the breeding grounds, and the population size of brent goose. No evidence was found for carry-over effects (i.e. effects of conditions at main spring staging site). Negative density dependence was operating at a population size above c. 200 000 individuals, but the levelling off of the population could be explained by faltering lemming cycles alone. 5. Lemmings have long been known to affect population productivity of Arctic-nesting migratory

Faltering lemming cycles reduce productivity and population size of a migratory Arctic goose species.

PubMed

Nolet, Bart A; Bauer, Silke; Feige, Nicole; Kokorev, Yakov I; Popov, Igor Yu; Ebbinge, Barwolt S

2013-07-01

The huge changes in population sizes of Arctic-nesting geese offer a great opportunity to study population limitation in migratory animals. In geese, population limitation seems to have shifted from wintering to summering grounds. There, in the Arctic, climate is rapidly changing, and this may impact reproductive performance, and perhaps population size of geese, both directly (e.g. by changes in snow melt) or indirectly (e.g. by changes in trophic interactions). Dark-bellied brent geese (Branta bernicla bernicla L.) increased 20-fold since the 1950s. Its reproduction fluctuates strongly in concert with the 3-year lemming cycle. An earlier analysis, covering the growth period until 1988, did not find evidence for density dependence, but thereafter the population levelled off and even decreased. The question is whether this is caused by changes in lemming cycles, population density or other factors like carry-over effects. Breeding success was derived from proportions of juveniles. We used an information-theoretical approach to investigate which environmental factors best explained the variation in breeding success over nearly 50 years (1960-2008). We subsequently combined GLM predictions of breeding success with published survival estimates to project the population trajectory since 1991 (year of maximum population size). In this way, we separated the effects of lemming abundance and population density on population development. Breeding success was mainly dependent on lemming abundance, the onset of spring at the breeding grounds, and the population size of brent goose. No evidence was found for carry-over effects (i.e. effects of conditions at main spring staging site). Negative density dependence was operating at a population size above c. 200 000 individuals, but the levelling off of the population could be explained by faltering lemming cycles alone. Lemmings have long been known to affect population productivity of Arctic-nesting migratory birds and, more

Mapping of RBE-Weighted Doses Between HIMAC- and LEM-Based Treatment Planning Systems for Carbon Ion Therapy

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

Steinstraeter, Olaf, E-mail: o.steinstraeter@gsi.de; Gruen, Rebecca; Institut fuer Medizinische Physik und Strahlenschutz, TH-Mittelhessen, Giessen

2012-11-01

Purpose: A method was developed to convert clinically prescribed RBE (Relative Biological Effectiveness)-weighted doses from the approach used at the Heavy-Ion Medical Accelerator (HIMAC) at the National Institute of Radiological Science, Chiba, Japan, to the LEM (Local Effect Model)-based TReatment planning for Particles (TRiP98) approach used in the pilot project at the GSI Helmholtzzentrum, Darmstadt, and the Heidelberg Ion-Beam Therapy Center (HIT). Methods and Materials: The proposed conversion method is based on a simulation of the fixed spread-out Bragg peak (SOBP) depth dose profiles as used for the irradiation at HIMAC by LEM/TRiP98 and a recalculation of the resulting RBE-weightedmore » dose distribution. We present data according to the clinical studies conducted at GSI in the past decade (LEM I), as well as data used in current studies (refined LEM version: LEM IV). Results: We found conversion factors (RBE-weighted dose LEM/RBE-weighted dose HIMAC) reaching from 0.4 to 2.0 for prescribed carbon ion doses from 1 to 60 Gy (RBE) for SOBP extensions ranging from 20 to 120 mm according to the HIMAC approach. A conversion factor of 1.0 was found for approximately 5 Gy (RBE). The conversion factor decreases with increasing prescribed dose. Slightly smaller values for the LEM IV-based data set compared with LEM I were found. A significant dependence of the conversion factor from the SOBP width could be observed in particular for LEM IV, whereas the depth dependence was found to be small. Conclusions: For the interpretation and comparison of clinical trials performed at HIMAC and GSI/HIT, it is of extreme importance to consider these conversion factors because according to the various methods to determine the RBE-weighted dose, similar dose values might not necessarily be related to similar clinical outcomes.« less

How Do Health Care Providers Diagnose Prader-Willi Syndrome?

MedlinePlus

... Share Facebook Twitter Pinterest Email Print How do health care providers diagnose Prader-Willi syndrome (PWS)? In many ... a "floppy" body and weak muscle tone, a health care provider may conduct genetic testing for Prader-Willi ...

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

PubMed

Adams, David R; Yuan, Hongjie; Holyoak, Todd; Arajs, Katrina H; Hakimi, Parvin; Markello, Thomas C; Wolfe, Lynne A; Vilboux, Thierry; Burton, Barbara K; Fajardo, Karin Fuentes; Grahame, George; Holloman, Conisha; Sincan, Murat; Smith, Ann C M; Wells, Gordon A; Huang, Yan; Vega, Hugo; Snyder, James P; Golas, Gretchen A; Tifft, Cynthia J; Boerkoel, Cornelius F; Hanson, Richard W; Traynelis, Stephen F; Kerr, Douglas S; Gahl, William A

2014-11-01

The National Institutes of Health Undiagnosed Diseases Program evaluates patients for whom no diagnosis has been discovered despite a comprehensive diagnostic workup. Failure to diagnose a condition may arise from the mutation of genes previously unassociated with disease. However, we hypothesized that this could also co-occur with multiple genetic disorders. Demonstrating a complex syndrome caused by multiple disorders, we report two siblings manifesting both similar and disparate signs and symptoms. They shared a history of episodes of hypoglycemia and lactic acidosis, but had differing exam findings and developmental courses. Clinical acumen and exome sequencing combined with biochemical and functional studies identified three genetic conditions. One sibling had Smith-Magenis Syndrome and a nonsense mutation in the RAI1 gene. The second sibling had a de novo mutation in GRIN2B, which resulted in markedly reduced glutamate potency of the encoded receptor. Both siblings had a protein-destabilizing homozygous mutation in PCK1, which encodes the cytosolic isoform of phosphoenolpyruvate carboxykinase (PEPCK-C). In summary, we present the first clinically-characterized mutation of PCK1 and demonstrate that complex medical disorders can represent the co-occurrence of multiple diseases. Copyright © 2014 Elsevier Inc. All rights reserved.

Brian Smith | NREL

Science.gov Websites

Smith Photo of Brian Smith Brian Smith Laboratory Program Manager II - Mechanical Engineering Brian.Smith@nrel.gov | 303-384-6911 Brian Smith is Partnership Manager for the NWTC and focuses on portfolio

Kristin Smith | NREL

Science.gov Websites

Smith Photo of Kristin Smith Kristin Smith Thermochemical Process Design Engineer Kristin.Smith @nrel.gov | 303-384-7877 Orcid ID http://orcid.org/0000-0001-6397-031X Research Interests Kristin Smith is a

Sterol Regulation of Voltage-Gated K+ Channels.

PubMed

Balajthy, Andras; Hajdu, Peter; Panyi, Gyorgy; Varga, Zoltan

2017-01-01

Cholesterol is an essential lipid building block of the cellular plasma membrane. In addition to its structural role, it regulates the fluidity and raft structure of the membrane and influences the course of numerous membrane-linked signaling pathways and the function of transmembrane proteins, including ion channels. This is supported by a vast body of scientific data, which demonstrates the modulation of ion channels with a great variety of ion selectivity, gating, and tissue distribution by changes in membrane cholesterol. Here, we review what is currently known about the modulation of voltage-gated K + (Kv) channels by changes in membrane cholesterol content, considering raft association of the channels, the roles of cholesterol recognition sites, and those of adaptor proteins in cholesterol-Kv channel interactions. We specifically focus on Kv1.3, the dominant K + channel of human T cells. Effects of cholesterol depletion and enrichment and 7-dehydrocholesterol enrichment on Kv1.3 gating are discussed in the context of the immunological synapse and the comparison of the in vitro effects of sterol modifications on Kv1.3 function with ex vivo effects on cells from hypercholesterolemic and Smith-Lemli-Opitz patients. © 2017 Elsevier Inc. All rights reserved.

High Arctic lemmings remain reproductively active under predator-induced elevated stress.

PubMed

Fauteux, Dominique; Gauthier, Gilles; Berteaux, Dominique; Palme, Rupert; Boonstra, Rudy

2018-04-12

Non-consumptive effects of predation have rarely been assessed in wildlife populations even though their impact could be as important as lethal effects. Reproduction of individuals is one of the most important demographic parameters that could be affected by predator-induced stress, which in turn can have important consequences on population dynamics. We studied non-consumptive effects of predation on the reproductive activity (i.e., mating and fertilization) of a cyclic population of brown lemmings exposed to intense summer predation in the Canadian High Arctic. Lemmings were live-trapped, their reproductive activity (i.e., testes visible in males, pregnancy/lactation in females) assessed, and predators were monitored during the summers of 2014 and 2015 within a 9 ha predator-reduction exclosure delimited by a fence and covered by a net, and on an 11 ha control area. Stress levels were quantified non-invasively with fecal corticosterone metabolites (FCM). We found that FCM levels of lemmings captured outside the predator exclosure (n = 50) were 1.6 times higher than inside (n = 51). The proportion of pregnant/lactating adult females did not differ between the two areas, nor did the proportion of adult scrotal males. We found that lemmings showed physiological stress reactions due to high predation risk, but had no sign of reduced mating activity or fertility. Thus, our results do not support the hypothesis of reproductive suppression by predator-induced stress.

Lambert-Eaton myasthenic syndrome: the 60th anniversary of Eaton and Lambert's pioneering article.

PubMed

Lorenzoni, Paulo José; Kay, Cláudia Suemi Kamoi; Werneck, Lineu Cesar; Scola, Rosana Herminia

2018-02-01

This historical review describes the contribution of Drs. Lee M. Eaton and Edward H. Lambert to the diagnosis of myasthenic syndrome on the 60th anniversary of their pioneering article (JAMA 1957) on the disease. There are important landmarks in their article on a disorder of the neuromuscular junction associated with thoracic neoplasm and the electrophysiological criteria for Lambert-Eaton myasthenic syndrome (LEMS). After 60 years, the main electrophysiological criteria described in Eaton and Lambert's pioneering article are still currently useful in the diagnosis of LEMS.

[Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].

PubMed

Henningsen, Marie Krab; Jelsig, Anne Marie; Andersen, Helle; Brusgaard, Klaus; Ousager, Lilian Bomme; Hertz, Jens Michael

2015-08-03

Noonan syndrome is part of the group of RASopathies caused by germ line mutations in genes involved in the RAS/MAPK pathway. There is substantial phenotypic overlap among the RASopathies. Diagnosis of Noonan syndrome is often based on clinical features including dysmorphic facial features, short stature and congenital heart disease. Rapid advances in sequencing technology have made molecular genetic analyses a helpful tool in diagnosing and distinguishing Noonan syndrome from other RASopathies.

Quantitative Proteomics Analysis of Inborn Errors of Cholesterol Synthesis

PubMed Central

Jiang, Xiao-Sheng; Backlund, Peter S.; Wassif, Christopher A.; Yergey, Alfred L.; Porter, Forbes D.

2010-01-01

Smith-Lemli-Opitz syndrome (SLOS) and lathosterolosis are malformation syndromes with cognitive deficits caused by mutations of 7-dehydrocholesterol reductase (DHCR7) and lathosterol 5-desaturase (SC5D), respectively. DHCR7 encodes the last enzyme in the Kandutsch-Russel cholesterol biosynthetic pathway, and impaired DHCR7 activity leads to a deficiency of cholesterol and an accumulation of 7-dehydrocholesterol. SC5D catalyzes the synthesis of 7-dehydrocholesterol from lathosterol. Impaired SC5D activity leads to a similar deficiency of cholesterol but an accumulation of lathosterol. Although the genetic and biochemical causes underlying both syndromes are known, the pathophysiological processes leading to the developmental defects remain unclear. To study the pathophysiological mechanisms underlying SLOS and lathosterolosis neurological symptoms, we performed quantitative proteomics analysis of SLOS and lathosterolosis mouse brain tissue and identified multiple biological pathways affected in Dhcr7Δ3–5/Δ3–5 and Sc5d−/− E18.5 embryos. These include alterations in mevalonate metabolism, apoptosis, glycolysis, oxidative stress, protein biosynthesis, intracellular trafficking, and cytoskeleton. Comparison of proteome alterations in both Dhcr7Δ3–5/Δ3–5 and Sc5d−/− brain tissues helps elucidate whether perturbed protein expression was due to decreased cholesterol or a toxic effect of sterol precursors. Validation of the proteomics results confirmed increased expression of isoprenoid and cholesterol synthetic enzymes. This alteration of isoprenoid synthesis may underlie the altered posttranslational modification of Rab7, a small GTPase that is functionally dependent on prenylation with geranylgeranyl, that we identified and validated in this study. These data suggested that although cholesterol synthesis is impaired in both Dhcr7Δ3–5/Δ3–5 and Sc5d−/− embryonic brain tissues the synthesis of nonsterol isoprenoids may be increased and thus

Genetics Home Reference: Potocki-Lupski syndrome

MedlinePlus

... of this segment causes a related condition called Smith-Magenis syndrome .) In the remaining one-third of ... L. Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes. J Pediatr Genet. ...

Diagnosing lynch syndrome in absence of colorectal cancer.

PubMed

Lynch, Henry T; Knezetic, Joseph; Lanspa, Stephen

2012-11-01

There are many ways in which a diagnosis of Lynch syndrome can be made, most prominent of which is family history, presence of cancer, high microsatellite instability, immunohistochemistry, and a mismatch repair germline mutation. There are at least four molecular pathways for colorectal cancer carcinogenesis: 1) adenoma-carcinoma sequence; 2) hereditary microsatellite instability; 3) serrated pathway; 4) epidermal growth factor receptor. The answer to diagnosing Lynch syndrome in the absence of colorectal cancer may be partially based upon the phenotypic characteristics of the colonic polyps should they be identified at colonoscopy, specifically their phenotypic characteristics of location, size, histology, number, and age of polyp onset.

The Influence of Weather and Lemmings on Spatiotemporal Variation in the Abundance of Multiple Avian Guilds in the Arctic

PubMed Central

Robinson, Barry G.; Franke, Alastair; Derocher, Andrew E.

2014-01-01

Climate change is occurring more rapidly in the Arctic than other places in the world, which is likely to alter the distribution and abundance of migratory birds breeding there. A warming climate can provide benefits to birds by decreasing spring snow cover, but increases in the frequency of summer rainstorms, another product of climate change, may reduce foraging opportunities for insectivorous birds. Cyclic lemming populations in the Arctic also influence bird abundance because Arctic foxes begin consuming bird eggs when lemmings decline. The complex interaction between summer temperature, precipitation, and the lemming cycle hinder our ability to predict how Arctic-breeding birds will respond to climate change. The main objective of this study was to investigate the relationship between annual variation in weather, spring snow cover, lemming abundance and spatiotemporal variation in the abundance of multiple avian guilds in a tundra ecosystem in central Nunavut, Canada: songbirds, shorebirds, gulls, loons, and geese. We spatially stratified our study area based on vegetation productivity, terrain ruggedness, and freshwater abundance, and conducted distance sampling to estimate strata-specific densities of each guild during the summers of 2010–2012. We also monitored temperature, rainfall, spring snow cover, and lemming abundance each year. Spatial variation in bird abundance matched what was expected based on previous ecological knowledge, but weather and lemming abundance also significantly influenced the abundance of some guilds. In particular, songbirds were less abundant during the cool, wet summer with moderate snow cover, and shorebirds and gulls declined with lemming abundance. The abundance of geese did not vary over time, possibly because benefits created by moderate spring snow cover were offset by increased fox predation when lemmings were scarce. Our study provides an example of a simple way to monitor the correlation between weather, spring snow

The influence of weather and lemmings on spatiotemporal variation in the abundance of multiple avian guilds in the arctic.

PubMed

Robinson, Barry G; Franke, Alastair; Derocher, Andrew E

2014-01-01

Climate change is occurring more rapidly in the Arctic than other places in the world, which is likely to alter the distribution and abundance of migratory birds breeding there. A warming climate can provide benefits to birds by decreasing spring snow cover, but increases in the frequency of summer rainstorms, another product of climate change, may reduce foraging opportunities for insectivorous birds. Cyclic lemming populations in the Arctic also influence bird abundance because Arctic foxes begin consuming bird eggs when lemmings decline. The complex interaction between summer temperature, precipitation, and the lemming cycle hinder our ability to predict how Arctic-breeding birds will respond to climate change. The main objective of this study was to investigate the relationship between annual variation in weather, spring snow cover, lemming abundance and spatiotemporal variation in the abundance of multiple avian guilds in a tundra ecosystem in central Nunavut, Canada: songbirds, shorebirds, gulls, loons, and geese. We spatially stratified our study area based on vegetation productivity, terrain ruggedness, and freshwater abundance, and conducted distance sampling to estimate strata-specific densities of each guild during the summers of 2010-2012. We also monitored temperature, rainfall, spring snow cover, and lemming abundance each year. Spatial variation in bird abundance matched what was expected based on previous ecological knowledge, but weather and lemming abundance also significantly influenced the abundance of some guilds. In particular, songbirds were less abundant during the cool, wet summer with moderate snow cover, and shorebirds and gulls declined with lemming abundance. The abundance of geese did not vary over time, possibly because benefits created by moderate spring snow cover were offset by increased fox predation when lemmings were scarce. Our study provides an example of a simple way to monitor the correlation between weather, spring snow

Phenotip - a web-based instrument to help diagnosing fetal syndromes antenatally.

PubMed

Porat, Shay; de Rham, Maud; Giamboni, Davide; Van Mieghem, Tim; Baud, David

2014-12-10

Prenatal ultrasound can often reliably distinguish fetal anatomic anomalies, particularly in the hands of an experienced ultrasonographer. Given the large number of existing syndromes and the significant overlap in prenatal findings, antenatal differentiation for syndrome diagnosis is difficult. We constructed a hierarchic tree of 1140 sonographic markers and submarkers, organized per organ system. Subsequently, a database of prenatally diagnosable syndromes was built. An internet-based search engine was then designed to search the syndrome database based on a single or multiple sonographic markers. Future developments will include a database with magnetic resonance imaging findings as well as further refinements in the search engine to allow prioritization based on incidence of syndromes and markers.

Social Perception and WAIS-IV Performance in Adolescents and Adults Diagnosed with Asperger's Syndrome and Autism

ERIC Educational Resources Information Center

Holdnack, James; Goldstein, Gerald; Drozdick, Lisa

2011-01-01

Previous research using the Wechsler scales has identified areas of cognitive weaknesses in children, adolescents, and adults diagnosed with Autism or Asperger's syndrome. The current study evaluates cognitive functioning in adolescents and adults diagnosed with Autism or Asperger's syndrome using the Wechsler Adult Intelligence Scale-Fourth…

Shoulder internal rotation elbow flexion test for diagnosing cubital tunnel syndrome.

PubMed

Ochi, Kensuke; Horiuchi, Yukio; Tanabe, Aya; Waseda, Makoto; Kaneko, Yasuhito; Koyanagi, Takahiro

2012-06-01

Shoulder internal rotation enhances symptom provocation attributed to cubital tunnel syndrome. We present a modified elbow flexion test--the shoulder internal rotation elbow flexion test--for diagnosing cubital tunnel syndrome. Fifty-five ulnar nerves in cubital tunnel syndrome patients and 123 ulnar nerves in controls were examined with 5 seconds each of elbow flexion, shoulder internal rotation, and shoulder internal rotation elbow flexion tests before and after treatment (surgery in 18; conservative in others). For the shoulder internal rotation elbow flexion test position, 90° abduction, maximum internal rotation, and 10° flexion of the shoulder were combined with the elbow flexion test position. The test was considered positive if any symptom for cubital tunnel syndrome developed <5 seconds. Influence of the shoulder internal rotation elbow flexion test was evaluated by nerve conduction studies in 10 cubital tunnel syndrome nerves and 7 control nerves. The sensitivities/specificities of the 5-second elbow flexion, shoulder internal rotation, and shoulder internal rotation elbow flexion tests were 25%/100%, 58%/100%, and 87%/98%, respectively. Sensitivity differences between the shoulder internal rotation elbow flexion test and the other two tests were significant. Shoulder internal rotation elbow flexion test results and cubital tunnel syndrome symptoms were significantly correlated. Influence of the shoulder internal rotation elbow flexion test on the ulnar nerve was seen in 8 of 10 cubital tunnel syndrome nerves but not in controls. The 5-second shoulder internal rotation elbow flexion test is specific, easy and quick provocative test for diagnosing cubital tunnel syndrome. Copyright © 2012 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Mosby, Inc. All rights reserved.

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

PubMed

Berger, Seth I; Ciccone, Carla; Simon, Karen L; Malicdan, May Christine; Vilboux, Thierry; Billington, Charles; Fischer, Roxanne; Introne, Wendy J; Gropman, Andrea; Blancato, Jan K; Mullikin, James C; Gahl, William A; Huizing, Marjan; Smith, Ann C M

2017-04-01

Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases. One candidate variant was located in an alpha helix of Necdin (NDN), phased to the paternally inherited allele. NDN is maternally imprinted within the 15q11.2 Prader-Willi Syndrome (PWS) region. This can help clarify NDN's role in the PWS phenotype. No definitive pathogenic gene variants were detected in the remaining SMS-like cases, but we report our findings for future comparison. This study provides information about the inheritance pattern and recurrence risk for patients with identified variants and demonstrates clinical and genetic overlap of neurodevelopmental disorders. Identification and characterization of ID-related genes that assist in development of common developmental pathways and/or gene-networks, may inform disease mechanism and treatment strategies.

A nationwide register study of the characteristics, incidence and validity of diagnosed Tourette syndrome and other tic disorders.

PubMed

Leivonen, Susanna; Voutilainen, Arja; Hinkka-Yli-Salomäki, Susanna; Timonen-Soivio, Laura; Chudal, Roshan; Gissler, Mika; Huttunen, Jukka; Sourander, Andre

2014-09-01

The aim of this study was to describe the characteristics and incidence rates of diagnosed tic disorders in the Finnish Hospital Discharge Register, including changing incidence rates between 1991 and 2010. We also aimed to validate the diagnoses of Tourette's syndrome recorded in the register. Children born between January 1, 1991 and December 31, 2010, who were diagnosed with tic disorders, were identified from the Finnish Hospital Discharge Register (n = 3003). We studied the validity of the Tourette's syndrome diagnoses by reviewing the medical charts of 88 children born since 1997 and carrying out telephone interviews with 55 of their guardians. The incidence rates of all diagnosed tic disorders increased during the study period. A comorbid diagnosis of hyperkinetic disorder diagnosis was recorded in 28.2% of the children with Tourette's syndrome, and the validity of the register-based Tourette's syndrome diagnosis was approximately 95%. This is the first nationwide study to demonstrate the increasing incidence of all register-based tic disorder diagnoses. The validity of the Tourette's syndrome diagnoses in the Finnish Hospital Discharge Register was good, and the data provided are suitable for use in further register-based studies of tic disorders. ©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer

PubMed Central

Matabosch, Xavier; Ying, Lee; Serra, Montserrat; Wassif, Christopher A.; Porter, Forbes D.; Shackleton, Cedric; Watson, Gordon

2010-01-01

Smith-Lemli-Opitz syndrome (SLOS) is caused by deficiency in the terminal step of cholesterol biosynthesis: the conversion of 7-dehydrocholesterol (7DHC) to cholesterol (C), catalyzed by 7-dehydrocholesterol reductase (DHCR7). This disorder exhibits several phenotypic traits including dysmorphia and mental retardation with a broad range of severity. There are few proven treatment options. That most commonly used is a high cholesterol diet that seems to enhance the quality of life and improve behavioral characteristics of patients, although these positive effects are controversial. The goal of our study was to investigate the possibility of restoring DHCR7 activity by gene transfer. We constructed an adeno-associated virus (AAV) vector containing the DHCR7 gene. After we infused this vector into affected mice, the introduced DHCR7 gene could be identified in liver, mRNA was expressed and a functional enzyme was produced. Evidence of functionality came from the ability to partially normalize the serum ratio of 7DHC/C in treated animals, apparently by increasing cholesterol production with concomitant decrease in 7DHC precursor. By five weeks after treatment the mean ratio (for 7 animals) had fallen to 0.05 while the ratio for untreated littermate controls had risen to 0.14. This provides proof of principle that gene transfer can ameliorate the genetic defect causing SLOS and provides a new experimental tool for studying the pathogenesis of this disease. If effective in humans, it might also offer a possible alternative to exogenous cholesterol therapy. However, it would not offer a complete cure for the disorder as many of the negative implications of defective synthesis are already established during prenatal development. PMID:20800683

Functional analysis of the zebrafish ortholog of HMGCS1 reveals independent functions for cholesterol and isoprenoids in craniofacial development

PubMed Central

Hernandez, Jose A.; Gonzalez, Cesar G.

2017-01-01

There are 8 different human syndromes caused by mutations in the cholesterol synthesis pathway. A subset of these disorders such as Smith-Lemli-Opitz disorder, are associated with facial dysmorphia. However, the molecular and cellular mechanisms underlying such facial deficits are not fully understood, primarily because of the diverse functions associated with the cholesterol synthesis pathway. Recent evidence has demonstrated that mutation of the zebrafish ortholog of HMGCR results in orofacial clefts. Here we sought to expand upon these data, by deciphering the cholesterol dependent functions of the cholesterol synthesis pathway from the cholesterol independent functions. Moreover, we utilized loss of function analysis and pharmacological inhibition to determine the extent of sonic hedgehog (Shh) signaling in animals with aberrant cholesterol and/or isoprenoid synthesis. Our analysis confirmed that mutation of hmgcs1, which encodes the first enzyme in the cholesterol synthesis pathway, results in craniofacial abnormalities via defects in cranial neural crest cell differentiation. Furthermore targeted pharmacological inhibition of the cholesterol synthesis pathway revealed a novel function for isoprenoid synthesis during vertebrate craniofacial development. Mutation of hmgcs1 had no effect on Shh signaling at 2 and 3 days post fertilization (dpf), but did result in a decrease in the expression of gli1, a known Shh target gene, at 4 dpf, after morphological deficits in craniofacial development and chondrocyte differentiation were observed in hmgcs1 mutants. These data raise the possibility that deficiencies in cholesterol modulate chondrocyte differentiation by a combination of Shh independent and Shh dependent mechanisms. Moreover, our results describe a novel function for isoprenoids in facial development and collectively suggest that cholesterol regulates craniofacial development through versatile mechanisms. PMID:28686747

libNeuroML and PyLEMS: using Python to combine procedural and declarative modeling approaches in computational neuroscience.

PubMed

Vella, Michael; Cannon, Robert C; Crook, Sharon; Davison, Andrew P; Ganapathy, Gautham; Robinson, Hugh P C; Silver, R Angus; Gleeson, Padraig

2014-01-01

NeuroML is an XML-based model description language, which provides a powerful common data format for defining and exchanging models of neurons and neuronal networks. In the latest version of NeuroML, the structure and behavior of ion channel, synapse, cell, and network model descriptions are based on underlying definitions provided in LEMS, a domain-independent language for expressing hierarchical mathematical models of physical entities. While declarative approaches for describing models have led to greater exchange of model elements among software tools in computational neuroscience, a frequent criticism of XML-based languages is that they are difficult to work with directly. Here we describe two Application Programming Interfaces (APIs) written in Python (http://www.python.org), which simplify the process of developing and modifying models expressed in NeuroML and LEMS. The libNeuroML API provides a Python object model with a direct mapping to all NeuroML concepts defined by the NeuroML Schema, which facilitates reading and writing the XML equivalents. In addition, it offers a memory-efficient, array-based internal representation, which is useful for handling large-scale connectomics data. The libNeuroML API also includes support for performing common operations that are required when working with NeuroML documents. Access to the LEMS data model is provided by the PyLEMS API, which provides a Python implementation of the LEMS language, including the ability to simulate most models expressed in LEMS. Together, libNeuroML and PyLEMS provide a comprehensive solution for interacting with NeuroML models in a Python environment.

libNeuroML and PyLEMS: using Python to combine procedural and declarative modeling approaches in computational neuroscience

PubMed Central

Vella, Michael; Cannon, Robert C.; Crook, Sharon; Davison, Andrew P.; Ganapathy, Gautham; Robinson, Hugh P. C.; Silver, R. Angus; Gleeson, Padraig

2014-01-01

NeuroML is an XML-based model description language, which provides a powerful common data format for defining and exchanging models of neurons and neuronal networks. In the latest version of NeuroML, the structure and behavior of ion channel, synapse, cell, and network model descriptions are based on underlying definitions provided in LEMS, a domain-independent language for expressing hierarchical mathematical models of physical entities. While declarative approaches for describing models have led to greater exchange of model elements among software tools in computational neuroscience, a frequent criticism of XML-based languages is that they are difficult to work with directly. Here we describe two Application Programming Interfaces (APIs) written in Python (http://www.python.org), which simplify the process of developing and modifying models expressed in NeuroML and LEMS. The libNeuroML API provides a Python object model with a direct mapping to all NeuroML concepts defined by the NeuroML Schema, which facilitates reading and writing the XML equivalents. In addition, it offers a memory-efficient, array-based internal representation, which is useful for handling large-scale connectomics data. The libNeuroML API also includes support for performing common operations that are required when working with NeuroML documents. Access to the LEMS data model is provided by the PyLEMS API, which provides a Python implementation of the LEMS language, including the ability to simulate most models expressed in LEMS. Together, libNeuroML and PyLEMS provide a comprehensive solution for interacting with NeuroML models in a Python environment. PMID:24795618

Snowy Owl (Nyctea scandiaca) reproduction in relation to lemming population cycles on Wrangel Island

Treesearch

Irina E. Menyushina

1997-01-01

Data on Snowy Owl (Nyctea scandiaca) reproduction on Wrangel Island were collected for six seasons from a total of 423 nests. Nest densities ranged from 0.15 to 0.40 nests/km². Mean clutch size for all 6 years was 6.5 (from 5.3 to 8.4) being significantly higher during low lemming season (7.17) (N = 29) than for peak lemming season (6.0, p...

Carpal Tunnel Syndrome

MedlinePlus

... Keep me signed in Passwords are Case Sensitive. Ex. Enter smith as follows: Smith Forgot Username/Password? ... Erythematosus (Juvenile) Takayasu's Arteritis Tendinitis & Bursitis Tumor Necrosis Factor Receptor Associated Periodic Syndrome (Juvenile) Vasculitis Enfermedades y ...

The prevalence of diagnosed tourette syndrome in Canada: A national population-based study.

PubMed

Yang, Jaeun; Hirsch, Lauren; Martino, Davide; Jette, Nathalie; Roberts, Jodie; Pringsheim, Tamara

2016-11-01

The objective of this study was to examine: (1) the prevalence of diagnosed Tourette syndrome in Canada by sex in youth (aged 12-17) and adults and (2) socioeconomic factors in this population. The majority of epidemiological studies of tics have focused on children and youth, with few studies describing the prevalence of tics in adult populations. Canadian data on Tourette syndrome prevalence were derived from the Canadian Community Health Survey 2010 and 2011 cycles, a Statistics Canada population-based cross-sectional survey that collects information related to health status. We determined the prevalence of diagnosed Tourette syndrome and examined sociodemographic factors, including age, sex, education, income, employment, and birthplace. Overall, 122,884 Canadians participated in the surveys, with 122 participants diagnosed with Tourette syndrome. The prevalence of Tourette syndrome was higher in males in youth: 6.03 per 1000 (95% confidence interval: 3.24-8.81) in males versus 0.48 per 1,000 (95% confidence interval: 0.05-0.91) in females, with a prevalence risk ratio of 5.31 (95% confidence interval: 2.38-11.81). In adults, the prevalence of Tourette syndrome was 0.89 per 1,000 (95% confidence interval: 0.48-1.29) in males versus 0.44 (95% confidence interval: 0.16.0-0.71) in females, with a prevalence risk ratio of 1.93 (95% confidence interval: 1.21-3.08). After adjusting for age and sex, adults with Tourette syndrome had lower odds of receiving postsecondary education or being employed and higher odds of having income lower than the median and receiving governmental support. Data on the prevalence of Tourette syndrome in adults are scarce because most studies focus on children. Our data demonstrate a decreasing prevalence risk ratio for sex in adults compared to children. A diagnosis of Tourette syndrome is associated with lower education, income, and employment in adulthood. © 2016 International Parkinson and Movement Disorder Society. © 2016

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

PubMed Central

Lessel, Davor; Hisama, Fuki M.; Szakszon, Katalin; Saha, Bidisha; Sanjuanelo, Alexander Barrios; Salbert, Bonnie A.; Steele, Pamela D.; Baldwin, Jennifer; Brown, W. Ted; Piussan, Charles; Plauchu, Henri; Szilvássy, Judit; Horkay, Edit; Hoögel, Josef; Martin, George M.; Herr, Alan J.; Oshima, Junko; Kubisch, Christian

2015-01-01

Segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ. A prototypic example is the Werner syndrome (WS), caused by biallelic germline mutations in the Werner helicase gene (WRN). While heterozygous lamin A/C (LMNA) mutations are found in a few nonclassical cases of WS, another 10%–15% of patients initially diagnosed with WS do not have mutations in WRN or LMNA. Germline POLD1 mutations were recently reported in five patients with another segmental progeroid disorder: mandibular hypoplasia, deafness, progeroid features syndrome. Here, we describe eight additional patients with heterozygous POLD1 mutations, thereby substantially expanding the characterization of this new example of segmental progeroid disorders. First, we identified POLD1 mutations in patients initially diagnosed with WS. Second, we describe POLD1 mutation carriers without clinically relevant hearing impairment or mandibular underdevelopment, both previously thought to represent obligate diagnostic features. These patients also exhibit a lower incidence of metabolic abnormalities and joint contractures. Third, we document postnatal short stature and premature greying/loss of hair in POLD1 mutation carriers. We conclude that POLD1 germline mutations can result in a variably expressed and probably underdiagnosed segmental progeroid syndrome. PMID:26172944

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

Lacassie, Y.; Arriaza, M.I.

Recently, McDonald-McGinn et al. reported the presence of a deletion 22q11.2 in a family with autosomal dominant inheritance and in a sporadic case with the Opitz GBBB syndrome. The presence of a vascular ring in these patients prompted them to look for this deletion, since this anomaly may be associated with the 22q11.2 deletion. They reviewed the Opitz GBBB syndrome and the 22q11.2 microdeletion syndrome, finding considerable overlap of manifestations. They proposed that, in some patients, the Opitz GBBB syndrome may be due to a 22q11.2 deletion. We recently examined a newborn boy referred because of MCA. The cardinal findingsmore » in this patient (hypertelorism, hypospadias with descended testicles, characteristic nose and truncus arteriosus type I) were suggestive of the Opitz GBBB syndrome and of the velocardiofacial syndrome. The chromosomes were apparently normal (46,XY), but the FISH study showed a 22q11.2 deletion. The patient developed hypocalcemia with very low level of PTH and heart failure requiring surgery. His immunological status was normal except that CD4 cells were mildly low and natural killer cells were increased in number. The family history was noncontributory, but the full evaluation of the family is pending. The mother at first glance presents apparent hypertelorism. 3 refs.« less

SaLEM (v1.0) - the Soil and Landscape Evolution Model (SaLEM) for simulation of regolith depth in periglacial environments

NASA Astrophysics Data System (ADS)

Bock, Michael; Conrad, Olaf; Günther, Andreas; Gehrt, Ernst; Baritz, Rainer; Böhner, Jürgen

2018-04-01

We propose the implementation of the Soil and Landscape Evolution Model (SaLEM) for the spatiotemporal investigation of soil parent material evolution following a lithologically differentiated approach. Relevant parts of the established Geomorphic/Orogenic Landscape Evolution Model (GOLEM) have been adapted for an operational Geographical Information System (GIS) tool within the open-source software framework System for Automated Geoscientific Analyses (SAGA), thus taking advantage of SAGA's capabilities for geomorphometric analyses. The model is driven by palaeoclimatic data (temperature, precipitation) representative of periglacial areas in northern Germany over the last 50 000 years. The initial conditions have been determined for a test site by a digital terrain model and a geological model. Weathering, erosion and transport functions are calibrated using extrinsic (climatic) and intrinsic (lithologic) parameter data. First results indicate that our differentiated SaLEM approach shows some evidence for the spatiotemporal prediction of important soil parental material properties (particularly its depth). Future research will focus on the validation of the results against field data, and the influence of discrete events (mass movements, floods) on soil parent material formation has to be evaluated.

CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes

PubMed Central

Landis, Benjamin J.; Cooper, David S.; Hinton, Robert B.

2016-01-01

CHD is frequently associated with a genetic syndrome. These syndromes often present specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri-operative risks affecting multiple organ systems. Although surgical outcomes have improved over time, these co-morbidities continue to contribute substantially to poor peri-operative mortality and morbidity outcomes. Peri-operative morbidity may have long-standing ramifications on neurodevelopment and overall health. Recognising the cardiovascular and non-cardiovascular risks associated with specific syndromic diagnoses will facilitate expectant management, early detection of clinical problems, and improved outcomes – for example, the development of syndrome-based protocols for peri-operative evaluation and prophylactic actions may improve outcomes for the more frequently encountered syndromes such as 22q11 deletion syndrome. PMID:26345374

Getting Diagnosed

MedlinePlus

... also for those with related disorders. How is Marfan syndrome diagnosed? getting_diagnosed.jpg A Marfan diagnosis can ... spinal column). Is there a genetic test for Marfan syndrome? Genetic testing can provide helpful information in some ...

Motor Abilities of Children Diagnosed with Fragile X Syndrome with and without Autism

ERIC Educational Resources Information Center

Zingerevich, C.; Greiss-Hess, L.; Lemons-Chitwood, K.; Harris, S. W.; Hessl, D.; Cook, K.; Hagerman, Randi J.

2009-01-01

Background: Previous studies suggested that children diagnosed with fragile X syndrome (FXS) often meet criteria for autism or PDD. This study describes the fine motor abilities of children diagnosed with FXS with and without autism spectrum disorder, and compares the motor scores of those groups controlling for cognitive level. Method:…

Sjögren's Syndrome

MedlinePlus

... Keep me signed in Passwords are Case Sensitive. Ex. Enter smith as follows: Smith Forgot Username/Password? ... Erythematosus (Juvenile) Takayasu's Arteritis Tendinitis & Bursitis Tumor Necrosis Factor Receptor Associated Periodic Syndrome (Juvenile) Vasculitis Enfermedades y ...

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.

Syndromes with supernumerary teeth.

PubMed

Lubinsky, Mark; Kantaputra, Piranit Nik

2016-10-01

While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Environmental Implications of Excessive Selenium: A Review

Treesearch

A. Dennis Lemly

1997-01-01

Selenium is a trace element that is normally present in surface waters at concentrations of about 0.1 - 0.3 parts-per-billion; Lemly, 1985a. In slightly greater amounts, i. e., l-5 ppb, it can bioaccumulate in aquatic food chains and become a concentrated dietary source of selenium that is highly toxic to fish and wildlife (Lemly and Smith, 1987; Lemly, 1993a). Dietary...

Arctic foxes, lemmings, and canada goose nest survival at cape Churchill, Manitoba

USGS Publications Warehouse

Reiter, M.E.; Andersen, D.E.

2011-01-01

We examined factors influencing Canada Goose (Branta canadensis interior) annual nest success, including the relative abundance of collared lemmings (Dicrostonyx richardsoni), arctic fox (Alopex lagopus) den occupancy, nest density, and spring phenology using data collected during annual Canada Goose breeding area surveys at Cape Churchill, Manitoba. Nest density and arctic fox den occupancy strongly influenced Canada Goose nest success. High nest density resulted in higher nest success and high den occupancy reduced nest success. Nest success was not influenced by lemming abundance in the current or previous year as predicted by the "bird-lemming" hypothesis. Reducing arctic fox abundance through targeted management increased nest survival of Canada Geese; a result that further emphasizes the importance of arctic fox as nest predators in this system. The spatial distribution of nest predators, at least for dispersed-nesting geese, may be most important for nest survival, regardless of the abundance of small mammals in the local ecosystem. Further understanding of the factors influencing the magnitude and variance in arctic fox abundance in this region, and the spatial scale at which these factors are realized, is necessary to fully explain predator-prey-alternative prey dynamics in this system. ?? 2011 by the Wilson Ornithological Society.

Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development.

PubMed

Reid, Shaina N; Ziermann, Janine M; Gondré-Lewis, Marjorie C

2015-07-01

Craniofacial malformations are common congenital defects caused by failed midline inductive signals. These midline defects are associated with exposure of the fetus to exogenous teratogens and with inborn genetic errors such as those found in Down, Patau, Edwards' and Smith-Lemli-Opitz syndromes. Yet, there are no studies that analyze contributions of synchronous neurocranial and neural development in these disorders. Here we present the first in-depth analysis of malformations of the basicranium of a holoprosencephalic (HPE) trisomy 18 (T18; Edwards' syndrome) fetus with synophthalmic cyclopia and alobar HPE. With a combination of traditional gross dissection and state-of-the-art computed tomography, we demonstrate the deleterious effects of T18 caused by a translocation at 18p11.31. Bony features included a single developmentally unseparated frontal bone, and complete dual absence of the anterior cranial fossa and ethmoid bone. From a superior view with the calvarium plates removed, there was direct visual access to the orbital foramen and hard palate. Both the eyes and the pituitary gland, normally protected by bony structures, were exposed in the cranial cavity and in direct contact with the brain. The middle cranial fossa was shifted anteriorly, and foramina were either missing or displaced to an abnormal location due to the absence or misplacement of its respective cranial nerve (CN). When CN development was conserved in its induction and placement, the respective foramen developed in its normal location albeit with abnormal gross anatomical features, as seen in the facial nerve (CNVII) and the internal acoustic meatus. More anteriorly localized CNs and their foramina were absent or heavily disrupted compared with posterior ones. The severe malformations exhibited in the cranial fossae, orbital region, pituitary gland and sella turcica highlight the crucial involvement of transcription factors such as TGIF, which is located on chromosome 18 and contributes

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

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

Juyal, R.C.; Figuera, L.E.; Hauge, X.

1996-05-01

Smith-Magenis syndrome (SMS) is a clinically recognizable, multiple congenital anomalies/mental retardation syndrome caused by an interstitial deletion involving band p11.2 of chromosome 17. Toward the molecular definition of the interval defining this microdeletion syndrome, 62 unrelated SMS patients in conjunction with 70 available unaffected parents were molecularly analyzed with respect to the presence or absence of 14 loci in the proximal region of the short arm of chromosome 17. A multifaceted approach was used to determine deletion status at the various loci that combined (1) FISH analysis, (2) PCR and Southern analysis of somatic cell hybrids retaining the deleted chromosomemore » 17 from selected patients, and (3) genotype determination of patients for whom a parent(s) was available at four microsatellite marker loci and at four loci with associated RFLPs. The relative order of two novel anonymous markers and a new microsatellite marker was determined in 17p11.2. The results confirmed that the proximal deletion breakpoint in the majority of SMS patients is located between markers D17S58 (EW301) and D17S446 (FG1) within the 17p11.1-17p11.2 region. The common distal breakpoint was mapped between markers cCI17-638, which lies distal to D17S71, and cCI17-498, which lies proximal to the Charcot Marie-Tooth disease type 1A locus. The locus D17S258 was found to be deleted in all 62 patients, and probes from this region can be used for diagnosis of the SMS deletion by FISH. Ten patients demonstrated molecularly distinct deletions; of these, two patients had smaller deletions and will enable the definition of the critical interval for SMS. 49 refs.« less

Caring for the caregivers: an investigation of factors related to well-being among parents caring for a child with Smith-Magenis syndrome.

PubMed

Foster, Rebecca H; Kozachek, Stephanie; Stern, Marilyn; Elsea, Sarah H

2010-04-01

Smith-Magenis syndrome (SMS) is a complex disorder characterized by numerous challenges, including intellectual disability, speech delay, decreased pain sensitivity, sleep disturbances, hyperactivity, mood instability, and self-injury. Caregivers must readily adapt to the ever-changing needs of the child. Due to these demands, caregivers may encounter difficulties maintaining their own level of well-being. Thus, a total of 112 primary caregivers (i.e., parents) of individuals diagnosed with SMS responded to online questionnaires to assess demographic and psychosocial factors, such as perceptions of child health vulnerability, benefit finding, sleep behaviors, anxiety and depression symptomatology, and caregiver satisfaction and self-efficacy, which may be related to caregiver well-being. Results show that, among mothers, caregiver well-being was directly related to perceived child health vulnerability, caregiver satisfaction, and benefit finding, and a significant moderating effect was observed for depression/anxiety counseling after beginning the caregiver role on the relationship between anxiety symptomatology and caregiver well-being. Results further suggest that maternal caregivers who report high levels of anxiety but do not seek counseling fair the worst in terms of well-being. Among fathers, lower depression symptoms and greater benefit finding were related to higher levels of caregiver well-being. These data show that many factors play roles in influencing coping and well-being among SMS caregivers. Investigating these variables and relationships may reveal additional resources and interventions to assist primary caregivers.

Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection.

PubMed

Okamoto, Nobuhiko; Watanabe, Miki; Naruto, Takuya; Matsuda, Keiko; Kohmoto, Tomohiro; Saito, Masako; Masuda, Kiyoshi; Imoto, Issei

2017-01-01

Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in the CUL4B gene. Here, we report a clinically undiagnosed 5-year-old male with severe intellectual disability. A genome-first approach using targeted exome sequencing identified a novel nonsense mutation [NM_003588.3:c.2698G>T, p.(Glu900*)] in the last coding exon of CUL4B , thus diagnosing this patient with Cabezas syndrome.

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome.

PubMed

Nag, Heidi Elisabeth; Nordgren, Ann; Anderlid, Britt-Marie; Nærland, Terje

2018-01-01

A substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general population.Smith-Magenis syndrome (SMS) is a rare and complex genetic syndrome caused by an interstitial deletion of chromosome 17p11.2 or a mutation on the retinoic acid induced 1 gene. The disorder is characterised by intellectual disability, multiple congenital anomalies, obesity, neurobehavioural abnormalities and a disrupted circadian sleep-wake pattern. Parents of 28 persons with SMS between 5 and 50 years old participated in this study. A total of 12 of the persons with SMS were above the age of 18 at the time of the study. A total of 11 came from Sweden and 17 were from Norway.We collected information regarding the number of autism spectrum symptoms using the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS). Adaptive behaviour was also measured using the Vineland Adaptive Behavior Scale II. The level of intellectual disability was derived from a review of the medical chart. We found significant gender differences in ASD symptomatology using the SCQ and SRS questionnaires. We found approximately three females per male above the SCQ cutoff. The same differences were not found in the intellectual level and adaptive behaviour or for behavioural and emotional problems.Gender had an independent contribution in a regression model predicting the total SCQ score, and neither the Vineland Adaptive Behavior Scale II nor the Developmental Behaviour Checklist had an independent contribution to the SCQ scores. We found a clear reversed gender difference in ASD symptomatology in persons with SMS. This may be relevant in the search for female protective factors

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.

PubMed

Weyhrauch, Derek L; Ye, Dan; Boczek, Nicole J; Tester, David J; Gavrilova, Ralitza H; Patterson, Marc C; Wieben, Eric D; Ackerman, Michael J

2016-02-01

A 4-year-old boy born at 37 weeks' gestation with intrauterine growth retardation presented with developmental delay with pronounced language and gross motor delay, axial hypotonia, and dynamic hypertonia of the extremities. Investigations including the Minnesota Newborn Screen, thyroid stimulating hormone/thyroxin, and inborn errors of metabolism screening were negative. Cerebral magnetic resonance imaging and spectroscopy were normal. Genetic testing was negative for coagulopathy, Smith-Lemli-Opitz, fragile X, and Prader-Willi/Angelman syndromes. Whole genome array analysis was unremarkable. Whole exome sequencing was performed through a commercial testing laboratory to elucidate the underlying etiology for the child's presentation. A de novo mutation was hypothesized. In attempt to establish pathogenicity of our candidate variant, cellular electrophysiologic functional analysis of the putative de novo mutation was performed using patch-clamp technology. Whole exome sequencing revealed a p.P1353L variant in the CACNA1A gene, which encodes for the α1-subunit of the brain-specific P/Q-type calcium channel (CaV2.1). This presynaptic high-voltage-gated channel couples neuronal excitation to the vesicular release of neurotransmitter and is implicated in several neurologic disorders. DNA Sanger sequencing confirmed that the de novo mutation was absent in both parents and present in the child only. Electrophysiologic analysis of P1353L-CACNA1A demonstrated near complete loss of function, with a 95% reduction in peak current density. Whole exome sequencing coupled with cellular electrophysiologic functional analysis of a de novoCACNA1A missense mutation has elucidated the probable underlying pathophysiologic mechanism responsible for the child's phenotype. Genetic testing of CACNA1A in patients with congenital hypotonia and developmental delay may be warranted. Copyright © 2016. Published by Elsevier Inc.

Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection

PubMed Central

Okamoto, Nobuhiko; Watanabe, Miki; Naruto, Takuya; Matsuda, Keiko; Kohmoto, Tomohiro; Saito, Masako; Masuda, Kiyoshi; Imoto, Issei

2017-01-01

Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in the CUL4B gene. Here, we report a clinically undiagnosed 5-year-old male with severe intellectual disability. A genome-first approach using targeted exome sequencing identified a novel nonsense mutation [NM_003588.3:c.2698G>T, p.(Glu900*)] in the last coding exon of CUL4B, thus diagnosing this patient with Cabezas syndrome. PMID:28144446

Timing of population peaks of Norway lemming in relation to atmospheric pressure: A hypothesis to explain the spatial synchrony.

PubMed

Selås, Vidar

2016-06-01

Herbivore cycles are often synchronized over larger areas than what could be explained by dispersal. In Norway, the 3-4 year lemming cycle usually show no more than a one-year time lag between different regions, despite distances of up to 1000 km. If important food plants are forced to reallocate defensive proteins in years with high seed production, spatially synchronized herbivore outbreaks may be due to climate-synchronized peaks in flowering. Because lemming peaks are expected to occur one year after a flowering peak, and the formation of flower buds is induced in the year before flowering, a two-year time lag between flower-inducing climate events and lemming peaks is predicted. At Hardangervidda, South Norway, the probability that a year was a population peak year of lemming during 1920-2014 increased with increasing midsummer atmospheric pressure two years earlier, even when the number of years since the previous peak was accounted for.

Cryopyrin-Associated Autoinflammatory Syndromes (CAPS) - Juvenile

MedlinePlus

... Keep me signed in Passwords are Case Sensitive. Ex. Enter smith as follows: Smith Forgot Username/Password? ... Erythematosus (Juvenile) Takayasu's Arteritis Tendinitis & Bursitis Tumor Necrosis Factor Receptor Associated Periodic Syndrome (Juvenile) Vasculitis Enfermedades y ...

Genetics Home Reference: branchiootorenal/branchiootic syndrome

MedlinePlus

... Darbro BW, Clarke J, Nishimura C, Cobb B, Smith RJ, Manak JR. Genome-wide copy number variation ... Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, Smith RJ. Branchio-oto-renal syndrome: the mutation spectrum ...

Myasthenia Gravis, Lambert-Eaton Myasthenic Syndrome & Congenital Myasthenic Syndromes

MedlinePlus

... make VGCC, triggering the immune system to make anti-VGCC antibodies. The trigger for LEMS without cancer is unknown. What are the symptoms of LEMS? ... after exer- tion. (It’s thought that, with repeated activity, calcium gradually ... urgency. LEMS with cancer has its onset in adulthood, but LEMS without ...

Mouse Models of Genomic Syndromes as Tools for Understanding the Basis of Complex Traits: An Example with the Smith-Magenis and the Potocki-Lupski Syndromes

PubMed Central

Carmona-Mora, P; Molina, J; Encina, C.A; Walz, K

2009-01-01

Each human's genome is distinguished by extra and missing DNA that can be “benign” or powerfully impact everything from development to disease. In the case of genomic disorders DNA rearrangements, such as deletions or duplications, correlate with a clinical specific phenotype. The clinical presentations of genomic disorders were thought to result from altered gene copy number of physically linked dosage sensitive genes. Genomic disorders are frequent diseases (~1 per 1,000 births). Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are genomic disorders, associated with a deletion and a duplication, of 3.7 Mb respectively, within chromosome 17 band p11.2. This region includes 23 genes. Both syndromes have complex and distinctive phenotypes including multiple congenital and neurobehavioral abnormalities. Human chromosome 17p11.2 is syntenic to the 32-34 cM region of murine chromosome 11. The number and order of the genes are highly conserved. In this review, we will exemplify how genomic disorders can be modeled in mice and the advantages that such models can give in the study of genomic disorders in particular and gene copy number variation (CNV) in general. The contributions of the SMS and PTLS animal models in several aspects ranging from more specific ones, as the definition of the clinical aspects of the human clinical spectrum, the identification of dosage sensitive genes related to the human syndromes, to the more general contributions as the definition of genetic locus impacting obesity and behavior and the elucidation of general mechanisms related to the pathogenesis of gene CNV are discussed. PMID:19949547

Infectious shock and toxic shock syndrome diagnoses in hospitals, Colorado, USA.

PubMed

Smit, Michael A; Nyquist, Ann-Christine; Todd, James K

2013-11-01

In Colorado, USA, diagnoses coded as toxic shock syndrome (TSS) constituted 27.3% of infectious shock cases during 1993-2006. The incidence of staphylococcal TSS did not change significantly overall or in female patients 10-49 years of age but increased for streptococcal TSS. TSS may be underrecognized among all ages and both sexes.

Presynaptic Disorders: Lambert-Eaton Myasthenic Syndrome and Botulism.

PubMed

Gable, Karissa L; Massey, Janice M

2015-08-01

Lambert-Eaton myasthenic syndrome (LEMS) and botulism are acquired presynaptic nerve terminal disorders of the neuromuscular junction. Lambert-Eaton myasthenic syndrome is an idiopathic or paraneoplastic autoimmune syndrome in which autoantibodies of the P/Q-type voltage-gated calcium channel play a role in decreasing the release of acetylcholine, resulting in clinical symptoms of skeletal muscle weakness, diminished reflexes, and autonomic symptoms. Paraneoplastic LEMS is most often associated with small cell lung cancer. Diagnosis is confirmed by positive serologic testing and electrophysiological studies, which display characteristic features of low compound muscle action potentials, a decrement at 3Hz repetitive nerve stimulation, and facilitation with exercise or high-frequency repetitive stimulation. Treatment involves cancer monitoring and treatment, 3,4-diaminopyridine, immunosuppressive medications, and acetylcholinesterase inhibitors. Botulism is another presynaptic disorder of neuromuscular transmission. Clinical features classically involve cranial and bulbar palsies followed by descending weakness of the limbs, respiratory failure, and autonomic dysfunction. Electrodiagnostic testing is important in the evaluation and diagnosis. Treatment is supportive, and administration of antitoxin is beneficial in selected cases. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Genetics Home Reference: autoimmune lymphoproliferative syndrome

MedlinePlus

... area? Other Names for This Condition ALPS Canale-Smith syndrome Related Information How are genetic conditions and ... Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1.

PubMed

Lacaria, Melanie; Gu, Wenli; Lupski, James R

2013-07-01

Smith-Magenis syndrome (SMS; OMIM 182290) is a genomic disorder characterized by multiple congenital anomalies, intellectual disability, behavioral abnormalities, and disordered sleep resulting from an ~3.7 Mb deletion copy number variant (CNV) on chromosome 17p11.2 or from point mutations in the gene RAI1. The reciprocal duplication of this region results in another genomic disorder, Potocki-Lupski syndrome (PTLS; OMIM 610883), characterized by autism, intellectual disability, and congenital anomalies. We previously used chromosome-engineering and gene targeting to generate mouse models for PTLS (Dp(11)17/+), and SMS due to either deletion CNV or gene knock-out (Df(11)17-2/+ and Rai1(+/-) , respectively) and we observed phenotypes in these mouse models consistent with their associated human syndromes. To investigate the contribution of individual genes to the circadian phenotypes observed in SMS, we now report the analysis of free-running period lengths in Rai1(+/-) and Df(11)17-2/+ mice, as well as in mice deficient for another known circadian gene mapping within the commonly deleted/duplicated region, Dexras1, and we compare these results to those previously observed in Dp(11)17/+ mice. Reduced free-running period lengths were seen in Df(11)17-2/+, Rai1(+/-) , and Dexras1(-/-) , but not Dexras1(+/-) mice, suggesting that Rai1 may be the primary gene underlying the circadian defects in SMS. However, we cannot rule out the possibility that cis effects between multiple haploinsufficient genes in the SMS critical interval (e.g., RAI1 and DEXRAS1) either exacerbate the circadian phenotypes observed in SMS patients with deletions or increase their penetrance in certain environments. This study also confirms a previous report of abnormal circadian function in Dexras1(-/-) mice. Copyright © 2013 Wiley Periodicals, Inc.

Prolonging the arctic pulse: long-term exploitation of cached eggs by arctic foxes when lemmings are scarce.

PubMed

Samelius, Gustaf; Alisauskas, Ray T; Hobson, Keith A; Larivière, Serge

2007-09-01

1. Many ecosystems are characterized by pulses of dramatically higher than normal levels of foods (pulsed resources) to which animals often respond by caching foods for future use. However, the extent to which animals use cached foods and how this varies in relation to fluctuations in other foods is poorly understood in most animals. 2. Arctic foxes Alopex lagopus (L.) cache thousands of eggs annually at large goose colonies where eggs are often superabundant during the nesting period by geese. We estimated the contribution of cached eggs to arctic fox diets in spring and autumn, when geese were not present in the study area, by comparing stable isotope ratios (delta(13)C and delta(15)N) of fox tissues with those of their foods using a multisource mixing model in Program IsoSource. 3. The contribution of cached eggs to arctic fox diets was inversely related to collared lemming Dicrostonyx groenlandicus (Traill) abundance; the contribution of cached eggs to overall fox diets increased from < 28% in years when collared lemmings were abundant to 30-74% in years when collared lemmings were scarce. 4. Further, arctic foxes used cached eggs well into the following spring (almost 1 year after eggs were acquired) - a pattern that differs from that of carnivores generally storing foods for only a few days before consumption. 5. This study showed that long-term use of eggs that were cached when geese were superabundant at the colony in summer varied with fluctuations in collared lemming abundance (a key component in arctic fox diets throughout most of their range) and suggests that cached eggs functioned as a buffer when collared lemmings were scarce.

Infectious Shock and Toxic Shock Syndrome Diagnoses in Hospitals, Colorado, USA

PubMed Central

Smit, Michael A.; Nyquist, Ann-Christine

2013-01-01

In Colorado, USA, diagnoses coded as toxic shock syndrome (TSS) constituted 27.3% of infectious shock cases during 1993–2006. The incidence of staphylococcal TSS did not change significantly overall or in female patients 10–49 years of age but increased for streptococcal TSS. TSS may be underrecognized among all ages and both sexes. PMID:24188357

Reliability of Diagnosing Clinical Hypothyroidism in Adults with Down Syndrome. Brief Report.

ERIC Educational Resources Information Center

Prasher, V. P.

1995-01-01

The accuracy of diagnosing hypothyroidism in 160 adults with Down syndrome was examined. A significant association between a clinical diagnosis of hypothyroidism and increasing age was found but no significant association was found between a clinical and a biochemical diagnosis. Regular biochemical screening is recommended. (Author/SW)

Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome.

PubMed

Hakan, Nilay; Eminoglu, Fatma Tuba; Aydin, Mustafa; Zenciroglu, Aysegul; Karadag, Nazmiye Nilgun; Dursun, Arzu; Okumus, Nurullah; Ceylaner, Serdar

2012-12-01

Crisponi syndrome is an infrequently described disorder with autosomal recessive trait. It is characterized by extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical facial features. Muscle contractions attenuate during rest or when the infant calms down. As a recently described new disease, Crisponi syndrome may be confused with epileptic manifestations. Most of the patients die in the first months of life due to hyperthermia and feeding problems. Recently, it has been demonstrated that mutations of the CRLF1 gene 'cytokine receptor-like factor 1' are associated with Crisponi syndrome. Here, we present a newborn diagnosed with Crisponi syndrome and report a novel homozygous CFRL1 gene mutation. © 2012 The Authors. Congenital Anomalies © 2012 Japanese Teratology Society.

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.

Where Lies the Fault in Diagnosing Dhat Syndrome among Females? Understanding through a Case Study.

PubMed

Kar, Sujita Kumar; Singh, Amit

2017-01-01

Dhat syndrome is a culture-bound syndrome of South-East Asia, common in young men. However, similar entity has also been described in female patients who attribute their symptoms to nonpathological or physiological vaginal discharge. The current diagnostic system for psychiatric illnesses does not encompass Dhat syndrome in females, and so these group of patients receive alternative diagnoses such as somatoform disorder or depression. As a result of which the focus of unique Dhat syndrome-centered management gets weakened, affecting the clinical outcome. This case study focuses on the diagnostic dilemmas related to Dhat syndrome in females and pitfalls in the current diagnostic system.

National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973-2016 in Denmark.

PubMed

Lou, Stina; Petersen, Olav B; Jørgensen, Finn S; Lund, Ida C B; Kjaergaard, Susanne; Vogel, Ida

2018-02-01

Denmark was the first country in the world to implement a national, free-for-all offer of prenatal screening for Down syndrome to all pregnant women. It has a high uptake (>90%) compared to other countries. Thus, Denmark offers an interesting case for investigating the consequences of implementing comprehensive, national prenatal screening guidelines. The aim of this study was to describe the historical developments in invasive procedures, pre-/postnatal diagnoses of Down syndrome and Down syndrome live births in the period 1973-2016 in Denmark. Data on invasive procedures, pre- and postnatal Down syndrome diagnoses were retrieved from the Danish Cytogenetic Central Registry. From 1973 to 1993, screening based on maternal age and high-risk indications resulted in a constant increase in invasive procedures. After the introduction of the triple test in 1994, invasive procedures decreased for the first time in 20 years. Following the introduction of an offer of combined screening to all pregnant women in 2004, the number of invasive procedures decreased markedly, while there was a concurrent increase in prenatal diagnoses of Down syndrome. Additionally, the number of Down syndrome live births decreased suddenly and significantly, but subsequently stabilized at 23-35 annual live births. Of these, the majority were diagnosed postnatally. Though prenatal screening technologies constantly improve, it was the introduction of and adherence to national guidelines that resulted in marked shifts in screening procedures and outcome in Denmark. © 2017 Nordic Federation of Societies of Obstetrics and Gynecology.

Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome.

PubMed

Chik, Constance L; Rollag, Mark D; Duncan, Wallace C; Smith, Ann C M

2010-01-01

An inverted circadian rhythm of melatonin (MT) likely contributes to the sleep disturbance in patients with Smith-Magenis syndrome (SMS). Plasma MT levels have documented this altered rhythm, but daytime levels of salivary MT has not been determined. Daytime measures of salivary MT might have utility in home/outpatient settings for assessing MT levels in undiagnosed patients with clinical features of SMS. The objective of this study was to determine the utility of daytime salivary MT as a diagnostic test in SMS. Thirty individuals with confirmed SMS [28 with del 17p11.2 and 2 with the retinoic acid induced 1 (RAI1) gene mutation] and five controls were studied. Single or serial daytime salivary MT levels were measured. The mean midday salivary MT level was 79.0 pg/ml in SMS patients, compared with 16.3 pg/ml in controls, with nine patients having values similar to controls. The median MT level in SMS patients was 49.0 pg/ml (first and third quartile values = 15.5 and 106.8 pg/ml). Twenty-six (90%) of 29 patients had at least one MT value >15.5 pg/ml, including 70 (78%) of 90 samples from patients with del 17p11.2 and one (20%) of five samples from the two patients with the RAI1 mutation. Neither the pattern of medication use nor age had an effect on daytime salivary MT levels. Although most SMS patients had elevated daytime salivary MT levels, multiple sampling appears necessary to distinguish patients with SMS from other conditions.

Pregnancy complicated with Alport syndrome: a good obstetric outcome and failure to diagnose an infant born to a mother with Alport syndrome by umbilical cord immunofluorescence staining.

PubMed

Matsubara, Shigeki; Ueda, Yoshihiko; Takahashi, Hisako; Nagai, Takashi; Kuwata, Tomoyuki; Muto, Shigeaki; Yamaguchi, Takehiko; Takizawa, Toshihiro; Suzuki, Mitsuaki

2009-12-01

Alport syndrome is a familial progressive nephritis. The most frequent type is X-linked Alport syndrome, caused by genetic abnormalities in the alpha 5 chain of type IV collagen. Skin biopsy is a useful tool for diagnosing this disease. It is not well known how this syndrome affects pregnancy and how it is affected by pregnancy, or whether the umbilical cord may provide material for detecting this collagen abnormality. We report a primigravida with Alport syndrome with mild proteinuria who gave birth abdominally to a term male infant without deteriorating renal function during pregnancy. The umbilical cord from not only this infant but also from an Alport (-) control infant showed negative immunofluorescence staining for the alpha 5 chain of type IV collagen. Women with Alport syndrome without renal dysfunction may follow an uneventful obstetrical course until term. The cord may not be suitable for diagnosing Alport syndrome with immunofluorescence staining.

Essential roles of LEM-domain protein MAN1 during organogenesis in Xenopus laevis and overlapping functions of emerin.

PubMed

Reil, Michael; Dabauvalle, Marie-Christine

2013-01-01

Mutations in nuclear envelope proteins are linked to an increasing number of human diseases, called envelopathies. Mutations in the inner nuclear membrane protein emerin lead to X-linked Emery-Dreifuss muscular dystrophy, characterized by muscle weakness or wasting. Conversely, mutations in nuclear envelope protein MAN1 are linked to bone and skin disorders. Both proteins share a highly conserved domain, called LEM-domain. LEM proteins are known to interact with Barrier-to-autointegration factor and several transcription factors. Most envelopathies are tissue-specific, but knowledge on the physiological roles of related LEM proteins is still unclear. For this reason, we investigated the roles of MAN1 and emerin during Xenopus laevis organogenesis. Morpholino-mediated knockdown of MAN1 revealed that MAN1 is essential for the formation of eye, skeletal and cardiac muscle tissues. The MAN1 knockdown could be compensated by ectopic expression of emerin, leading to a proper organ development. Further investigations revealed that MAN1 is involved in regulation of genes essential for organ development and tissue homeostasis. Thereby our work supports that LEM proteins might be involved in signalling essential for organ development during early embryogenesis and suggests that loss of MAN1 may cause muscle and retina specific diseases. Copyright © 2013 Elsevier GmbH. All rights reserved.

Improving self-esteem in women diagnosed with Turner syndrome: results of a pilot intervention.

PubMed

Chadwick, Paul M; Smyth, Arlene; Liao, Lih-Mei

2014-06-01

To evaluate a brief intervention to improve the self esteem of women diagnosed with Turner syndrome (TS). Prospective observational study. Turner Syndrome Support Society, UK. 30 women aged 18-60 years. A 1-day psychology workshop targeting problems of self-esteem in women diagnosed with TS. The workshop drew on cognitive-behavioral therapy and narrative therapy skills and emphasized increased self-awareness of interpersonal difficulties and improved capacity for self-management. Rosenberg Self-esteem Scale (RSS); Hospital Anxiety and Depression Scale (HADS); bespoke user experiences questionnaire. All 30 women provided baseline data, 27/30 provided immediate post-intervention data and 22/30 provided follow-up data at 3 months. The intervention improved RSS and HADS scores at 3 months. Generic skills-based psychological interventions have the potential to be adapted to provide brief and low-cost interventions to improve self-esteem and reduce psychological distress in women diagnosed with TS. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Improving the representation of mixed-phase cloud microphysics in the ICON-LEM

NASA Astrophysics Data System (ADS)

Tonttila, Juha; Hoose, Corinna; Milbrandt, Jason; Morrison, Hugh

2017-04-01

The representation of ice-phase cloud microphysics in ICON-LEM (the Large-Eddy Model configuration of the ICOsahedral Nonhydrostatic model) is improved by implementing the recently published Predicted Particle Properties (P3) scheme into the model. In the typical two-moment microphysical schemes, such as that previously used in ICON-LEM, ice-phase particles must be partitioned into several prescribed categories. It is inherently difficult to distinguish between categories such as graupel and hail based on just the particle size, yet this partitioning may significantly affect the simulation of convective clouds. The P3 scheme avoids the problems associated with predefined ice-phase categories that are inherent in traditional microphysics schemes by introducing the concept of "free" ice-phase categories, whereby the prognostic variables enable the prediction of a wide range of smoothly varying physical properties and hence particle types. To our knowledge, this is the first application of the P3 scheme in a large-eddy model with horizontal grid spacings on the order of 100 m. We will present results from ICON-LEM simulations with the new P3 scheme comprising idealized stratiform and convective cloud cases. We will also present real-case limited-area simulations focusing on the HOPE (HD(CP)2 Observational Prototype Experiment) intensive observation campaign. The results are compared with a matching set of simulations employing the two-moment scheme and the performance of the model is also evaluated against observations in the context of the HOPE simulations, comprising data from ground based remote sensing instruments.

Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome (PFAPA)

MedlinePlus

... Keep me signed in Passwords are Case Sensitive. Ex. Enter smith as follows: Smith Forgot Username/Password? ... Erythematosus (Juvenile) Takayasu's Arteritis Tendinitis & Bursitis Tumor Necrosis Factor Receptor Associated Periodic Syndrome (Juvenile) Vasculitis Enfermedades y ...

Rectal Cancer Diagnosed after Cesarean Section in Which High Microsatellite Instability Indicated the Presence of Lynch Syndrome

PubMed Central

Okuda, Tomohiro; Ishii, Hiroshi; Yamashita, Sadao; Matsuo, Seiki; Okimura, Hiroyuki

2015-01-01

We report a case of rectal cancer with microsatellite instability (MSI) that probably resulted from Lynch syndrome and that was diagnosed after Cesarean section. The patient was a 28-year-old woman (gravid 1, para 1) without a significant medical history. At 35 gestational weeks, vaginal ultrasonography revealed a 5 cm tumor behind the uterine cervix, which was diagnosed as a uterine myoma. The tumor gradually increased in size and blocked the birth canal, resulting in the patient undergoing an emergency Cesarean section. Postoperatively, the tumor was diagnosed as rectal cancer with MSI. After concurrent chemoradiation therapy, a lower anterior resection was performed. The patient's family history revealed she met the criteria of the revised Bethesda guidelines for testing the colorectal tumor for MSI. Testing revealed that the tumor did indeed show high MSI and, combined with the family history, suggested this could be a case of Lynch syndrome. Our findings emphasize the importance of considering the possibility of Lynch syndrome in pregnant women with colorectal cancer, particularly those with a family history of this condition. We suggest that the presence of Lynch syndrome should also be considered for any young woman with endometrial, ovarian, or colorectal cancer. PMID:26064726

The Devil in Mr. Smith: A Conversation with Jonathan Z. Smith

ERIC Educational Resources Information Center

Smith, Jonathan Z.; Pearson, Thomas; Gallagher, Eugene V.; Jensen, Tim; Fujiwara, Satoko

2014-01-01

This interview was recorded in November 2012 in Jonathan Z. Smith's Hyde Park graystone. Professor Smith offers insights into how he thinks about his classroom teaching and his students' learning through descriptions of various assignments and classroom activities he has developed over more than forty years of teaching. The discussion…

Natural history of Wolff-Parkinson-White syndrome diagnosed in childhood.

PubMed

Cain, Nicole; Irving, Claire; Webber, Steven; Beerman, Lee; Arora, Gaurav

2013-10-01

Wolff-Parkinson-White (WPW) syndrome carries a risk for symptomatic arrhythmias and sudden death. The aim of this study was to examine the natural history of patients with Wolff-Parkinson-White syndrome diagnosed in childhood followed longitudinally at a single institution. The study population consisted of 446 patients. The median age of diagnosis was 7 years, and 61% were male. Associated heart disease was present in 40 patients (9%). Modes of presentation included supraventricular tachycardia (38%), palpitations (22%), chest pain (5%), syncope (4%), atrial fibrillation (0.4%), sudden death (0.2%), and incidental findings (26%); data were unavailable in 4%. During the study period, a total of 243 patients (54%) had supraventricular tachycardia, and 7 patients (1.6%) had atrial fibrillation. Of patients who presented at ≤3 months of age, 35% had resolution of manifest preexcitation compared with 5.8% who presented at >3 months of age (p <0.0001). There were 6 sudden deaths (1.3%), with an incidence of 2.8 per 1,000 patient-years. Two of these patients had structurally normal hearts (incidence 1.1 per 1,000 patient-years). Four of these patients had associated heart disease (incidence 27 per 1,000 patient-years) (p <0.01). In conclusion, in a large population of patients with Wolff-Parkinson-White syndrome diagnosed in childhood, 64% had symptoms at presentation, and an additional 20% developed symptoms during follow-up. There were 6 sudden deaths (1.3%), with an overall incidence of 1.1 per 1,000 patient-years in patients with structurally normal hearts and 27 per 1,000 patient-years in patients with associated heart disease. Copyright © 2013 Elsevier Inc. All rights reserved.

Consistency between Research and Clinical Diagnoses of Autism among Boys and Girls with Fragile X Syndrome

ERIC Educational Resources Information Center

Klusek, J.; Martin, G. E.; Losh, M.

2014-01-01

Background: Prior research suggests that 60-74% of males and 16-45% of females with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD) in research settings. However, relatively little is known about the rates of clinical diagnoses in FXS and whether such diagnoses are consistent with those performed in a research setting…

Fasting glucose measurement as a potential first step screening for glucose metabolism abnormalities in women with anovulatory polycystic ovary syndrome.

PubMed

Veltman-Verhulst, Susanne M; Goverde, Angelique J; van Haeften, Timon W; Fauser, Bart C J M

2013-08-01

Is routine screening by oral glucose tolerance test (OGTT) needed for all women with polycystic ovary syndrome (PCOS)? Screening for glucose metabolism abnormalities of PCOS patients by an OGTT could potentially be limited to patients who present with a fasting glucose concentration between 6.1 and 7.0 mmol/l only. Women with PCOS are at increased risk of developing diabetes. This study proposes a stepwise screening strategy for (pre)diabetes for PCOS patients based on risk stratification by fasting plasma glucose. A cross-sectional study of 226 women diagnosed with anovulatory PCOS. A consecutive series of 226 patients, diagnosed with PCOS at the University Medical Centre Utrecht, the Netherlands, were screened for glucose metabolism abnormalities by OGTT (75 g glucose load). The majority of the 226 women (mean age: 29.6 ± 4.3 years; BMI: 27.3 ± 6.7 kg/m(2); 81% Caucasian) presented with a normal OGTT (169 women (75%)). Of the 57 (25%) women presenting with mild to moderate glucose abnormalities, 53 (93%) could be identified by fasting glucose concentrations only. Diabetes was diagnosed in a total of eight women (3.5%). In six women, the diagnosis was based on fasting glucose >7.0 mmol/l. The other two cases of diabetes initially presented with fasting glucose between 6.1 and 7.0 mmol/l and were diagnosed by OGTT assessment. No women diagnosed with diabetes presented with fasting glucose levels below 6.1 mmol/l. We therefore conclude that all diabetes patients could potentially be found by initial fasting glucose assessment followed by OGTT only in patients with fasting glucose between 6.1 and 7.0 mmol/l. Before general implementation can be advised, this screening algorithm should be validated in a prospective study of a similar or greater number of PCOS women. Our study comprised of a mostly Caucasian (81%) population, therefore generalization to other ethnic populations should be done with caution. No external finance was involved in this study. B

Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing.

PubMed

Mathur, Deepan; Somashekar, Santhosh; Navarrete, Cristina; Rodriguez, Maria M

2014-08-01

Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene.

Adam Smith and dependency.

PubMed

Ozler, Sule

2012-06-01

The focus of this paper is the works and life of Adam Smith, who is widely recognized as the father and founder of contemporary economics. Latent content analysis is applied to his seminal text in economics, An Inquiry into the Nature and Causes of the Wealth of Nations (1776). The results reveal that Smith considers dependence on others a problem and sees the solution to this problem in impersonalized interdependence. In addition, his views on social dependency and personal dependency, reflected in his Lectures on Jurisprudence (1963) and The Theory of Moral Sentiments (1759), are analyzed. This analysis suggests a central tension between dependence and independence in Smith's writings. The personal dependency patterns he exhibited in his life, which also suggest a tension between dependence and independence, are identified through a reading of his biographies. Based on insights from psychoanalytic literature, this paper proposes that developing the ideas in the Wealth of Nations was part of Smith's creative solution to this tension. In particular, his solution to one individual's dependence on another was through a system of impersonalized interdependence. In other words, Smith defended against his personal dependence through his economic theorizing.

Aerospace Engineer Lizalyn Smith

NASA Image and Video Library

2017-01-09

Portrait of Orion Service Module Spacecraft Adapter Jettisonable (SAJ) Hardware Lead Engineer Lizalyn Smith. Ms. Smith participated in various 'Hidden Figures to Modern Figures' events sponsored by NASA Glenn Research Center to encourage students to pursue STEM-based careers.

A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

PubMed

Nanba, Kazutaka; Usui, Takeshi; Nakamura, Michikazu; Toyota, Yuko; Hirota, Keisho; Tamanaha, Tamiko; Kawashima, Sachiko-Tsukamoto; Nakao, Kanako; Yuno, Akiko; Tagami, Tetsuya; Naruse, Mitsuhide; Shimatsu, Akira

2013-01-01

Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by a GATA3 gene mutation. Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification. A 58-year-old Japanese man showed severe hypocalcemia and marked calcification in the basal ganglia, cerebellum, deep white matter, and gray-white junction on computed tomography (CT). The serum intact parathyroid hormone level was relatively low against low serum calcium concentration. The patient had been diagnosed with bilateral sensorineural deafness in childhood and had a family history of hearing disorders. Imaging studies revealed no renal anomalies. The patient was diagnosed with HDR syndrome, and genetic testing was performed. Genetic analysis of GATA3 showed a novel nonsense mutation at codon 198 (S198X) in exon 3. The S198X mutation leads to a loss of two zinc finger deoxyribonucleic acid (DNA) binding domains and is considered to be responsible for HDR syndrome. We identified a novel nonsense mutation of GATA3 in an adult patient with HDR syndrome who showed extensive intracranial calcification.

Normal for an Asperger: notions of the meanings of diagnoses among adults with Asperger syndrome.

PubMed

Bertilsdotter Rosqvist, Hanna

2012-04-01

This study explores the production of a counterhegemonic discourse of "autistic normalcy" among adults with high-functioning autism by analyzing notions of diagnosis. The discourse analyses are based on material from ethnographic fieldwork in a Swedish educational setting. Study participants were 3 male and 9 female adults who had been diagnosed with Asperger syndrome. The notion of diagnosis comprises issues concerning coming out and knowledge production. The findings capture an ongoing reformulation process among people involved in the autistic self-advocacy movement when it comes to the meanings of Asperger syndrome and what it means to be a person with Asperger syndrome.

Diagnosing and treating premenstrual syndrome in five western nations.

PubMed

Weisz, George; Knaapen, Loes

2009-04-01

Premenstrual syndrome (PMS) and its derivative Premenstrual Dysphoric Disorder (PMDD) are controversial medical diagnoses. On one hand they are ubiquitous in English-language cultures; on the other they are for many emblematic of unnecessary medicalization of natural physiological processes. In this paper, we use data produced by IMS, a health care information and research firm, to analyze office-based medical practice related to PMS/PMDD in five countries. We come to several conclusions: 1. Relatively few doctors in any country diagnose women as suffering from PMS/PMDD, despite significant national variations in frequency of diagnosis; 2. Women diagnosed with this condition are usually prescribed a medication no matter what kind of specialist they see; and 3. In North America and the UK, practitioners generally follow USA practice guidelines which favour use of anti-depressive drugs like SSRIs but this is not the case in France and Germany which exhibit unique prescription patterns. In France hormonal treatment and analgesics dominate; in Germany the plant extract Vitex agnus-castus, considered an alternative therapy in much of the English-speaking world, is most common. We go on to discuss the relevance of these conclusions to discussions of variations in medical practices, to the existing PMS literature that claims high rates of prevalence for this condition, and to recent studies of "demedicalization" in certain domains.

LemA and Erp Y-like recombinant proteins from Leptospira interrogans protect hamsters from challenge using AddaVax™ as adjuvant.

PubMed

Oliveira, Thaís Larré; Schuch, Rodrigo Andrade; Inda, Guilherme Roig; Roloff, Bárbara Couto; Neto, Amilton Clair Pinto Seixas; Amaral, Marta; Dellagostin, Odir Antonio; Hartwig, Daiane Drawanz

2018-05-03

Recombinant subunit vaccines have been extensively evaluated as promising alternatives against leptospirosis. Here, we evaluated two proteins in formulations containing the adjuvant AddaVax™ as vaccine candidates for prevention and control of leptospirosis. Recombinant proteins rErp Y-like and rLemA were characterized by ELISA to assess their ability to bind extracellular matrix (ECM) components and fibrinogen. Groups of eight hamsters were immunized intramuscularly with rErp Y-like or rLemA mixed with a squalene-based adjuvant (AddaVax), and then vaccine efficacy was determined in terms of protection against a lethal challenge. The humoral immune response was determined by ELISA, and the evidence of sub-lethal infection was evaluated by histopathology and kidney culture. rLemA protein binds laminin, fibrinogen, and collagen type IV, while rErp Y-like interacts with fibrinogen. Significant protection was achieved for rLemA and rErp Y-like vaccines, which showed 87.5% and 62.5% survivals, respectively. On day 28, the humoral immune response was significantly greater in the vaccine groups as compared to that in the control group, and the response was predominantly based on IgG2/3. The surviving animals showed negative results in culture isolation but presented with tissue lesions in the lungs and kidneys. Cumulatively, our findings suggest that LemA and Erp Y-like proteins act as adhesins and are able to protect against mortality, but not against tissue lesions. Moreover, AddaVax is a novel adjuvant with potential for improving the immunogenicity of leptospiral vaccines. Copyright © 2018 Elsevier Ltd. All rights reserved.

Anterior Cutaneous Nerve Entrapment Syndrome in a Pediatric Patient Previously Diagnosed With Functional Abdominal Pain: A Case Report.

PubMed

DiGiusto, Matthew; Suleman, M-Irfan

2018-03-23

Chronic abdominal pain is common in children and adolescents but challenging to diagnose, because practitioners may be concerned about missing serious occult disease. Abdominal wall pain is an often ignored etiology for chronic abdominal pain. Anterior cutaneous nerve entrapment syndrome causes abdominal wall pain but is frequently overlooked. Correctly diagnosing patients with anterior cutaneous nerve entrapment syndrome is important because nerve block interventions are highly successful in the remittance of pain. Here, we present the case of a pediatric patient who received a diagnosis of functional abdominal pain but experienced pain remittance after receiving a trigger-point injection and transverse abdominis plane block.

A disease difficult to diagnose: Gardner-Diamond syndrome accompanied by platelet dysfunction

PubMed Central

Karakaş, Zeynep; Karaman, Serap; Avcı, Burcu; Ünüvar, Ayşegül; Öztürk, Gülyüz; Anak, Sema; Devecioğlu, Ömer

2014-01-01

Gardner Diamond syndrome is a rare condition characterized with painful ecchymoses in different parts of the body and cutaneous and mucosal hemorrhages. The etiology is not known fully and psychogenic factors are thought to be involved. Cutaneous lesions and hemorrhages develop mostly following emotional stress and rarely minor traumas and may recur. Although the extremities are involved with the highest rate, the lesions may be observed in any part of the body. Hemostatic tests are generally normal. The majority of the subjects is composed of young women. It is observed more rarely in men and children. In this article, a patient who presented with recurring painful echymoses and bleeding disorder and diagnosed with Gardner Diamond syndrome by intracutaneous injection of autologous blood was presented to emphasize that this syndrome is observed rarely in the childhood and should be considered not only in the differential diagnosis of cutaneous lesions, but also in the differential diagnosis of various system hemorrhages. PMID:26078671

Attitude and risk of substance use in adolescents diagnosed with Asperger syndrome.

PubMed

Ramos, M; Boada, L; Moreno, C; Llorente, C; Romo, J; Parellada, M

2013-12-01

Adolescence is a stage of development with increased risk of drug use. Individual personality traits are among those factors that influence the onset of substance use in adolescence and its psychiatric comorbidity. Little research has been done on the comorbidity between substance abuse risk and Asperger syndrome, and none specifically in adolescence. The objective of this study is to assess the risk of drug use by adolescents with Asperger syndrome and compare it with that risk in control subjects. A secondary objective was to analyze the personality factors that may be associated with substance use in the same two groups. We used three self-administered questionnaires, one for drug risk assessment (FRIDA) and the other two for personality trait assessment (MACI and SSS-V). Adolescents diagnosed with Asperger syndrome are at less risk for drug use derived from family and access to drugs factors. Subjects with Asperger syndrome did score higher on introversive, inhibited, doleful, and borderline tendency prototypes than healthy controls, and scored lower on all sensation-seeking traits. Being male, a diagnosis of Asperger syndrome, and unruly, introversive, and sensation-seeking traits were all independently associated with the risk of drug abuse. Both identified personality factors and other variables associated with the Asperger syndrome contribute to the low risk of drug abuse observed in this population. Exploring protective factors for drug use in these subjects may prove useful for interventions with adolescents at risk for consumption. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Smith Tackles Oakland Unified

ERIC Educational Resources Information Center

Mellon, Ericka

2011-01-01

As a 20-something, Anthony "Tony" Smith had fulfilled one dream: playing professional football for the Green Bay Packers and the San Francisco 49ers. Next up, he thought, was law school, but a former mentor reminded him that he is a teacher. Smith never became a classroom teacher, but his background in sports--where he learned the power…

Brazilian dietary patterns and the dietary approaches to stop hypertension (DASH) diet-relationship with metabolic syndrome and newly diagnosed diabetes in the ELSA-Brasil study.

PubMed

Drehmer, Michele; Odegaard, Andrew O; Schmidt, Maria Inês; Duncan, Bruce B; Cardoso, Letícia de Oliveira; Matos, Sheila M Alvim; Molina, Maria Del Carmen B; Barreto, Sandhi M; Pereira, Mark A

2017-01-01

Studies evaluating dietary patterns, including the DASH diet, and their relationship with the metabolic syndrome and diabetes may help to understand the role of dairy products (low fat or full fat) in these conditions. Our aim is to identify dietary patterns in Brazilian adults and compare them with the (DASH) diet quality score in terms of their associations with metabolic syndrome and newly diagnosed diabetes in the Brazilian Longitudinal Study of Adult Health-the ELSA-Brasil study. The ELSA-Brasil is a multicenter cohort study comprising 15,105 civil servants, aged 35-74 years at baseline (2008-2010). Standardized interviews and exams were carried out, including an OGTT. We analyzed baseline data for 10,010 subjects. Dietary patterns were derived by principal component analysis. Multivariable logistic regression investigated associations of dietary patterns with metabolic syndrome and newly diagnosed diabetes and multivariable linear regression with components of metabolic syndrome. After controlling for potential confounders, we observed that greater adherence to the Common Brazilian meal pattern (white rice, beans, beer, processed and fresh meats), was associated with higher frequencies of newly diagnosed diabetes, metabolic syndrome and all of its components, except HDL-C. Participants with greater intake of a Common Brazilian fast foods/full fat dairy/milk based desserts pattern presented less newly diagnosed diabetes. An inverse association was also seen between the DASH Diet pattern and the metabolic syndrome, blood pressure and waist circumference. Diet, light foods and beverages/low fat dairy pattern was associated with more prevalence of both outcomes, and higher fasting glucose, HDL-C, waist circumference (among men) and lower blood pressure. Vegetables/fruit dietary pattern did not protect against metabolic syndrome and newly diagnosed diabetes but was associated with lower waist circumference. The inverse associations found for the dietary pattern

Influence of Climate Warming on Arctic Mammals? New Insights from Ancient DNA Studies of the Collared Lemming Dicrostonyx torquatus

PubMed Central

Prost, Stefan; Smirnov, Nickolay; Fedorov, Vadim B.; Sommer, Robert S.; Stiller, Mathias; Nagel, Doris; Knapp, Michael; Hofreiter, Michael

2010-01-01

Background Global temperature increased by approximately half a degree (Celsius) within the last 150 years. Even this moderate warming had major impacts on Earth's ecological and biological systems, especially in the Arctic where the magnitude of abiotic changes even exceeds those in temperate and tropical biomes. Therefore, understanding the biological consequences of climate change on high latitudes is of critical importance for future conservation of the species living in this habitat. The past 25,000 years can be used as a model for such changes, as they were marked by prominent climatic changes that influenced geographical distribution, demographic history and pattern of genetic variation of many extant species. We sequenced ancient and modern DNA of the collared lemming (Dicrostonyx torquatus), which is a key species of the arctic biota, from a single site (Pymva Shor, Northern Pre Urals, Russia) to see if climate warming events after the Last Glacial Maximum had detectable effects on the genetic variation of this arctic rodent species, which is strongly associated with a cold and dry climate. Results Using three dimensional network reconstructions we found a dramatic decline in genetic diversity following the LGM. Model-based approaches such as Approximate Bayesian Computation and Markov Chain Monte Carlo based Bayesian inference show that there is evidence for a population decline in the collared lemming following the LGM, with the population size dropping to a minimum during the Greenland Interstadial 1 (Bølling/Allerød) warming phase at 14.5 kyrs BP. Conclusion Our results show that previous climate warming events had a strong influence on genetic diversity and population size of collared lemmings. Due to its already severely compromised genetic diversity a similar population reduction as a result of the predicted future climate change could completely abolish the remaining genetic diversity in this population. Local population extinctions of collared

MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.

PubMed

Mullegama, Sureni V; Pugliesi, Loren; Burns, Brooke; Shah, Zalak; Tahir, Raiha; Gu, Yanghong; Nelson, David L; Elsea, Sarah H

2015-06-01

Individuals with autism spectrum disorders (ASD) who have an identifiable single-gene neurodevelopmental disorder (NDD), such as fragile X syndrome (FXS, FMR1), Smith-Magenis syndrome (SMS, RAI1), or 2q23.1 deletion syndrome (del 2q23.1, MBD5) share phenotypic features, including a high prevalence of sleep disturbance. We describe the circadian deficits in del 2q23.1 through caregiver surveys in which we identify several frequent sleep anomalies, including night/early awakenings, coughing/snoring loudly, and difficulty falling asleep. We couple these findings with studies on the molecular analysis of the circadian deficits associated with haploinsufficiency of MBD5 in which circadian gene mRNA levels of NR1D2, PER1, PER2, and PER3 were altered in del 2q23.1 lymphoblastoid cell lines (LCLs), signifying that haploinsufficiency of MBD5 can result in dysregulation of circadian rhythm gene expression. These findings were further supported by expression microarrays of MBD5 siRNA knockdown cells that showed significantly altered expression of additional circadian rhythm signaling pathway genes. Based on the common sleep phenotypes observed in del 2q23.1, SMS, and FXS patients, we explored the possibility that MBD5, RAI1, and FMR1 function in overlapping circadian rhythm pathways. Bioinformatic analysis identified conserved putative E boxes in MBD5 and RAI1, and expression levels of NR1D2 and CRY2 were significantly reduced in patient LCLs. Circadian and mTOR signaling pathways, both associated with sleep disturbance, were altered in both MBD5 and RAI1 knockdown microarray data, overlapping with findings associated with FMR1. These data support phenotypic and molecular overlaps across these syndromes that may be exploited to provide therapeutic intervention for multiple disorders.

Apollo Docking with the LEM Target

NASA Image and Video Library

2012-09-07

Originally the Rendezvous was used by the astronauts preparing for Gemini missions. The Rendezvous Docking Simulator was then modified and used to develop docking techniques for the Apollo program. This picture shows a later configuration of the Apollo docking with the LEM target. A.W. Vogeley described the simulator as follows: The Rendezvous Docking Simulator and also the Lunar Landing Research Facility are both rather large moving-base simulators. It should be noted, however, that neither was built primarily because of its motion characteristics. The main reason they were built was to provide a realistic visual scene. A secondary reason was that they would provide correct angular motion cues (important in control of vehicle short-period motions) even though the linear acceleration cues would be incorrect. -- Published in A.W. Vogeley, Piloted Space-Flight Simulation at Langley Research Center, Paper presented at the American Society of Mechanical Engineers, 1966 Winter Meeting, New York, NY, November 27 - December 1, 1966.

[Decrement pattern of M-response amplitude in the low-frequency repetitive nerve stimulation in the muscles of patients with myasthenia gravis and Lambert-Eaton myasthenic syndrome].

PubMed

Tumurov, D A; Sanadze, A G

To investigate the pattern of decrement in the muscles of patients with myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS). Twenty-seven patients with MG and 39 patients with LEMS were studied using low frequency repetitive nerve stimulation (3/ sec). The decrease of safety factor of neuromuscular transmission was equal in both groups. At the same time, a significant difference in the decrease of pattern of the amplitude compound of muscle action potential (CMAP) was found. In LEMS, by contrast with MG, another sequence of amplitude variability of CMAP from the second stimulus to the first and from the fifth stimulus to the fourth was noted. In LEMS patients, progressive decrement, manifesting by increasing ratios of late A9/A1 to early A4/A1 was found, whereas the MG patients showed retrogressive decrement expressed by the reduction in decrement ratio (from late to early). These differences reflect the mechanisms and status of acetylcholine mobilization and release from the axon terminal.

LEMS: a language for expressing complex biological models in concise and hierarchical form and its use in underpinning NeuroML 2.

PubMed

Cannon, Robert C; Gleeson, Padraig; Crook, Sharon; Ganapathy, Gautham; Marin, Boris; Piasini, Eugenio; Silver, R Angus

2014-01-01

Computational models are increasingly important for studying complex neurophysiological systems. As scientific tools, it is essential that such models can be reproduced and critically evaluated by a range of scientists. However, published models are currently implemented using a diverse set of modeling approaches, simulation tools, and computer languages making them inaccessible and difficult to reproduce. Models also typically contain concepts that are tightly linked to domain-specific simulators, or depend on knowledge that is described exclusively in text-based documentation. To address these issues we have developed a compact, hierarchical, XML-based language called LEMS (Low Entropy Model Specification), that can define the structure and dynamics of a wide range of biological models in a fully machine readable format. We describe how LEMS underpins the latest version of NeuroML and show that this framework can define models of ion channels, synapses, neurons and networks. Unit handling, often a source of error when reusing models, is built into the core of the language by specifying physical quantities in models in terms of the base dimensions. We show how LEMS, together with the open source Java and Python based libraries we have developed, facilitates the generation of scripts for multiple neuronal simulators and provides a route for simulator free code generation. We establish that LEMS can be used to define models from systems biology and map them to neuroscience-domain specific simulators, enabling models to be shared between these traditionally separate disciplines. LEMS and NeuroML 2 provide a new, comprehensive framework for defining computational models of neuronal and other biological systems in a machine readable format, making them more reproducible and increasing the transparency and accessibility of their underlying structure and properties.

LEMS: a language for expressing complex biological models in concise and hierarchical form and its use in underpinning NeuroML 2

PubMed Central

Cannon, Robert C.; Gleeson, Padraig; Crook, Sharon; Ganapathy, Gautham; Marin, Boris; Piasini, Eugenio; Silver, R. Angus

2014-01-01

Computational models are increasingly important for studying complex neurophysiological systems. As scientific tools, it is essential that such models can be reproduced and critically evaluated by a range of scientists. However, published models are currently implemented using a diverse set of modeling approaches, simulation tools, and computer languages making them inaccessible and difficult to reproduce. Models also typically contain concepts that are tightly linked to domain-specific simulators, or depend on knowledge that is described exclusively in text-based documentation. To address these issues we have developed a compact, hierarchical, XML-based language called LEMS (Low Entropy Model Specification), that can define the structure and dynamics of a wide range of biological models in a fully machine readable format. We describe how LEMS underpins the latest version of NeuroML and show that this framework can define models of ion channels, synapses, neurons and networks. Unit handling, often a source of error when reusing models, is built into the core of the language by specifying physical quantities in models in terms of the base dimensions. We show how LEMS, together with the open source Java and Python based libraries we have developed, facilitates the generation of scripts for multiple neuronal simulators and provides a route for simulator free code generation. We establish that LEMS can be used to define models from systems biology and map them to neuroscience-domain specific simulators, enabling models to be shared between these traditionally separate disciplines. LEMS and NeuroML 2 provide a new, comprehensive framework for defining computational models of neuronal and other biological systems in a machine readable format, making them more reproducible and increasing the transparency and accessibility of their underlying structure and properties. PMID:25309419

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

PubMed

Caro-Llopis, Alfonso; Rosello, Monica; Orellana, Carmen; Oltra, Silvestre; Monfort, Sandra; Mayo, Sonia; Martinez, Francisco

2016-12-01

Mutations in the X-linked gene MED12 cause at least three different, but closely related, entities of syndromic intellectual disability. Recently, a new syndrome caused by MED13L deleterious variants has been described, which shows similar clinical manifestations including intellectual disability, hypotonia, and other congenital anomalies. Genotyping of 1,256 genes related with neurodevelopment was performed by next-generation sequencing in three unrelated patients and their healthy parents. Clinically relevant findings were confirmed by conventional sequencing. Each patient showed one de novo variant not previously reported in the literature or databases. Two different missense variants were found in the MED12 or MED13L genes and one nonsense mutation was found in the MED13L gene. The phenotypic consequences of these mutations are closely related and/or have been previously reported in one or other gene. Additionally, MED12 and MED13L code for two closely related partners of the mediator kinase module. Consequently, we propose the concept of a common MED12/MED13L clinical spectrum, encompassing Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, Ohdo syndrome, MED13L haploinsufficiency syndrome, and others.

Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?

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

Brown, A.; Phelan, M.C.; Rogers, R.C.

1996-05-17

J.M. and H.G. are two unrelated male patients with developmental delay. Cytogenetic analysis detected a duplication of 17p11.2 in both patients. The extent of the duplicated region was determined using single copy DNA probes: cen-D17S58-D17S29-D17S258-D17S71-D17S445-D17S122-tel. Four of the six markers, D17S29, D17S258, D17S71, and D17S445, were duplicated by dosage analysis. Fluorescent in situ hybridization (FISH) analysis of H.G., using cosmids for locus D17S29, confirmed the duplication in 17p11.2. Because the deletion that causes the Smith-Magenis syndrome involves the same region of 17p11.2 as the duplication in these patients, the mechanism may be similar to that proposed for the reciprocal deletion/more » duplication event observed in Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) and Charcot-Marie-Tooth Type 1A disease (CMT1A). 30 refs., 3 figs., 1 tab.« less

Screening of coeliac disease in undetected adults and patients diagnosed with irritable bowel syndrome in Riyadh, Saudi Arabia.

PubMed

Al-Ajlan, Abdulrahman S

2016-07-01

The present study is to determine the prevalence and implication of coeliac disease (CD) among adult Saudis and compared to those with diagnosed irritable bowel syndrome. This prospective study was conducted among 980 adults. Out of that, 482 subjects (staff and students of Riyadh Health Science College) were designated as control cohorts for undetected coeliac disease. Furthermore, another contingent of 498 subjects diagnosed with irritable bowel syndrome (IBS) at Prince Salman Hospital and Al-Iman General Hospital also constituted a segment of the overall initial 1020 subjects. Both cases and control were tested for serological markers of coeliac disease (tissues transglutaminase (tTGAs) and endomysial autoantibody (EMAs) and were confirmed by histopathology test. All the positive for cases of coeliac disease were screened for iron deficiency anaemia, Vitamin D deficiency, and osteoporosis and weight assessment. The percentage of coeliac disease in control subjects and patients diagnosed with irritable bowel syndrome (IBS) were found to be 1.9% and 9.6% respectively, about 38% of the total coeliac disease patients are among females of middle age (20-39-years) and 16% of the males in the same age range. Whereas, 20% and 25% of all coeliac disease cases with ages of 40-59 were remarked as females and males respectively. The identical nature and overlap of symptoms of the two conditions could possibly result in misdiagnosis of coeliac diseases or over-diagnosis of irritable bowel syndrome. The findings of the study might also give considerable implications of the disease in the nutritional level which is noticeable.

Further delineation of Malan syndrome.

PubMed

Priolo, Manuela; Schanze, Denny; Tatton-Brown, Katrin; Mulder, Paul A; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nursel H; Fahrner, Jill A; Foster, Alison; González, Noelia García; Huber, Ilka; Iascone, Maria; Kaiser, Ann-Sophie; Kamath, Arveen; Liebelt, Jan; Lynch, Sally Ann; Maas, Saskia M; Mammì, Corrado; Mathijssen, Inge B; McKee, Shane; Menke, Leonie A; Mirzaa, Ghayda M; Montgomery, Tara; Neubauer, Dorothee; Neumann, Thomas E; Pintomalli, Letizia; Pisanti, Maria Antonietta; Plomp, Astrid S; Price, Sue; Salter, Claire; Santos-Simarro, Fernando; Sarda, Pierre; Segovia, Mabel; Shaw-Smith, Charles; Smithson, Sarah; Suri, Mohnish; Valdez, Rita Maria; Van Haeringen, Arie; Van Hagen, Johanna M; Zollino, Marcela; Lapunzina, Pablo; Thakker, Rajesh V; Zenker, Martin; Hennekam, Raoul C

2018-06-13

Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype-phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall-Smith syndrome can be discerned by differences in the site of stop codon formation. We conclude that Malan syndrome has a well recognizable phenotype that usually can be discerned easily from Marshall-Smith syndrome but rarely there is some overlap. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only. © 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc.

An under-diagnosed geriatric syndrome: sleep disorders among older adults.

PubMed

Tufan, Asli; Ilhan, Birkan; Bahat, Gulistan; Karan, Mehmet Akif

2017-06-01

Sleep disorders are commonly under-diagnosed in the geriatric population. We aimed to determine the prevalence of sleep problems among older adults admitted to the geriatrics out-patient clinic. Two hundred and three patients (136 female) older than 75 years of age were included in the study. Patients underwent comprehensive geriatric assessment, including identification of sleep problems using the Sleep Disturbance Scale, Rapid eye movement (REM) sleep behavior disorder (RBD) Single-Question Screen questionnaire (RBD1Q) and The Johns Hopkins Restless Leg Syndrome Severity Scale. Demographic and clinical data including age, sex, medications, comorbid diseases, body mass index and functional scores was noted. The mean age of the patients was 80.92±4.3 years. 35.5% of the patients had findings of REM-SBD and 32.5% of the patients had restless legs syndrome. Ninety-seven percent of the patients answered 'yes' to at least one of the sleep disturbance scale questions. There was no significant difference between male and female groups. We observed that sleep disorders were common among older adults. For this reason, the course and quality of sleep should be examined in all patients as a routine part of comprehensive geriatric assessment.

Using the androgen excess-PCOS society criteria to diagnose polycystic ovary syndrome and the risk of metabolic syndrome in adolescents.

PubMed

Roe, Andrea Hsu; Prochaska, Erica; Smith, Matthew; Sammel, Mary; Dokras, Anuja

2013-05-01

To use the Androgen Excess-PCOS Society (AE-PCOS) criteria in adolescents to diagnose polycystic ovary syndrome (PCOS) and identify the prevalence of metabolic risk factors. Retrospective chart review of adolescents (>2 years postmenarche) presenting at a specialty clinic from 2008 through 2010 with complete evaluation for PCOS and metabolic risk were reviewed. Metabolic risk in adolescents with PCOS was compared with those with ≤ 1 AE-PCOS criteria. Of the 205 adolescents evaluated, 66% were found to have PCOS based on the AE-PCOS criteria. The most common presenting symptom was menstrual irregularity, followed by acne, hirsutism, and weight gain. Adolescents with PCOS had a significantly higher prevalence of obesity, hypertension, and low level of high-density lipoprotein cholesterol. Subjects with PCOS had ≥ 1 metabolic risk factor compared with the subjects without PCOS (63.6% vs 33.3%, P = .002). More adolescents with PCOS had ≥ 2 abnormal metabolic risk factors excluding body mass index compared with those without PCOS (P < .02). The prevalence of metabolic syndrome (≥ 3 risk factors) was 10.8% in adolescents with PCOS compared with 1.7% in those without PCOS (P < .04). Adolescents diagnosed with PCOS based on the AE-PCOS criteria are at a significantly increased risk of ≥ 1 metabolic abnormality. Our data underscore the need to accurately diagnose PCOS in the adolescent population instead of delaying the diagnosis to adulthood. Further, using similar criteria for the diagnosis of PCOS in adolescents (>2 years postmenarche) and adults will be more convenient for the clinician. Copyright © 2013 Mosby, Inc. All rights reserved.

Current therapy for Lambert-Eaton myasthenic syndrome: development of 3,4-diaminopyridine phosphate salt as first-line symptomatic treatment.

PubMed

Quartel, A; Turbeville, S; Lounsbury, D

2010-06-01

Lambert-Eaton myasthenic syndrome (LEMS) is a rare pre-synaptic auto-immune disorder of neuromuscular transmission that is characterised by proximal muscle weakness, depressed tendon reflexes and autonomic dysfunction. This review summarises the clinical symptoms, aetiology, diagnosis and treatment options for LEMS. Focus is placed on symptomatic treatment with the potassium channel blocker 3,4-diaminopyridine (3,4-DAP). English-language publications were searched in MEDLINE and EMBASE to retrieve relevant literature on LEMS. The data submitted to obtain regulatory approval of 3,4-DAP phosphate by the European Medicines Agency (EMA) were also used. LEMS is a rare disease with few treatment options which are generally categorised as anti-tumour, immunomodulating or immunosuppressing, and symptomatic treatments. Anti-tumour treatment is recommended for patients with the paraneoplastic form of LEMS. While several immunomodulating or immunosuppressing treatments have been identified, these treatments should be initiated when symptomatic treatments are inadequate. As expected, due to the rarity of the disease, few reports of randomised controlled trials (RCTs) exist. Seven RCTs have been conducted to evaluate treatment of patients with LEMS. One RCT evaluated immunomodulating treatment with intravenous immunoglobulin (ivIg), while six evaluated symptomatic treatment with the potassium channel blocker 3,4-DAP. Improvements in LEMS symptoms after ivIg treatment were observed, leading to the recommendation for treatment in patients when symptomatic treatment does not provide satisfactory improvement. Potassium channel blockers evaluated for the treatment of LEMS include guanidine, 4-aminopyridine (4-AP) and 3,4-DAP. However, only 3,4-DAP has been evaluated in RCTs. Results of these RCTs demonstrated that treatment with 3,4-DAP is efficacious in treatment of LEMS and has an acceptable tolerability profile. Hence, 3,4-DAP has been recommended as first-line symptomatic

[Brant goose colonies near snowy owls: internest distances in relation to lemming and arctic fox abundance].

PubMed

Kharitonov, S P; Volkov, A E; Willems, F; van Kleef, H; Klaassen, R H G; Nowak, D J; Nowak, A I; Bublichenko, A G

2008-01-01

Brant goose colonies around snowy owl nests have been studied near Meduza Bay (73 degrees 21' N, 80 degrees 32' E) and in the lower reaches of the Uboinaya River (73 degrees 37' N, 82 degrees 10' E), the northwestern Taimyr Peninsula, from 1999 to 2006. All brant nests within 680 m from an owl nest have been regarded as an individual colony. The results show that the area of the colony is always larger than the guarded area around the owl nest. In years of high abundance of lemmings, brant geese nest generally closer to the owl nest than in years of high abundance. When arctic foxes are abundant, however, brant geese nest significantly closer to owls than when the foxes are scarce, irrespective of lemming abundance. The mechanism of brant colony formation around owl nests is based on a number of stimuli.

Neuropsychiatric symptoms and syndromes in a large cohort of newly diagnosed, untreated patients with Alzheimer disease.

PubMed

Spalletta, Gianfranco; Musicco, Massimo; Padovani, Alesandro; Rozzini, Luca; Perri, Roberta; Fadda, Lucia; Canonico, Vincenzo; Trequattrini, Alberto; Pettenati, Carla; Caltagirone, Carlo; Palmer, Katie

2010-11-01

Neuropsychiatric symptoms are common in patients with Alzheimer disease (AD). Treatment for both AD and psychiatric disturbances may affect the clinical observed pattern and comorbidity. The authors aimed to identify whether particular neuropsychiatric syndromes occur in untreated patients with AD, establish the severity of syndromes, and investigate the relationship between specific neuropsychiatric syndromes and AD disease severity. Cross-sectional, multicenter, clinical study. A total of 1,015 newly diagnosed, untreated outpatients with AD from five Italian memory clinics were consecutively enrolled in the study from January 2003 to December 2005. All patients underwent thorough examination by clinical neurologists/geriatricians, including neuropsychiatric symptom evaluation with the Neuropsychiatric Inventory. Factor analysis revealed five distinct neuropsychiatric syndromes: the apathetic syndrome (as unique syndrome) was the most frequent, followed by affective syndrome (anxiety and depression), psychomotor (agitation, irritability, and aberrant motor behavior), psychotic (delusions and hallucinations), and manic (disinhibition and euphoria) syndromes. More than three quarters of patients with AD presented with one or more of the syndromes (N = 790, 77.8%), and more than half exhibited clinically significant severity of symptoms (N = 603, 59.4%). With the exception of the affective one, all syndromes showed an increased occurrence with increasing severity of dementia. The authors' study supports the use of a syndrome approach for neuropsychiatric evaluation in patients with AD. Individual neuropsychiatric symptoms can be reclassified into five distinct psychiatric syndromes. Clinicians should incorporate a thorough psychiatric and neurologic examination of patients with AD and consider therapeutic strategies that focus on psychiatric syndromes, rather than specific individual symptoms.

LEM4/ANKLE-2 deficiency impairs post-mitotic re-localization of BAF, LAP2α and LaminA to the nucleus, causes nuclear envelope instability in telophase and leads to hyperploidy in HeLa cells.

PubMed

Snyers, Luc; Erhart, Renate; Laffer, Sylvia; Pusch, Oliver; Weipoltshammer, Klara; Schöfer, Christian

2018-01-01

The human LEM-domain protein family is involved in fundamental aspects of nuclear biology. The LEM-domain interacts with the barrier-to-autointegration factor (BAF), which itself binds DNA. LEM-domain proteins LAP2, emerin and MAN1 are proteins of the inner nuclear membrane; they have important functions: maintaining the integrity of the nuclear lamina and regulating gene expression at the nuclear periphery. LEM4/ANKLE-2 has been proposed to participate in nuclear envelope reassembly after mitosis and to mediate dephosphorylation of BAF through binding to phosphatase PP2A. Here, we used CRISPR/Cas9 to create several cell lines deficient in LEM4/ANKLE-2. By using time-lapse video microscopy, we show that absence of this protein severely compromises the post mitotic re-association of the nuclear proteins BAF, LAP2α and LaminA to chromosomes. These defects give rise to a strong mechanical instability of the nuclear envelope in telophase and to a chromosomal instability leading to increased number of hyperploid cells. Reintroducing LEM4/ANKLE-2 in the cells by transfection could efficiently restore the telophase association of BAF and LAP2α to the chromosomes. This rescue phenotype was abolished for N- or C-terminally truncated mutants that had lost the capacity to bind PP2A. We demonstrate also that, in addition to binding to PP2A, LEM4/ANKLE-2 binds BAF through its LEM-domain, providing further evidence for a generic function of this domain as a principal interactor of BAF. Copyright © 2017 Elsevier GmbH. All rights reserved.

LEM Characterization of Synthetic Jet Actuators Driven by Piezoelectric Element: A Review

PubMed Central

Chiatto, Matteo; Capuano, Francesco; Coppola, Gennaro; de Luca, Luigi

2017-01-01

In the last decades, Synthetic jet actuators have gained much interest among the flow control techniques due to their short response time, high jet velocity and absence of traditional piping, which matches the requirements of reduced size and low weight. A synthetic jet is generated by the diaphragm oscillation (generally driven by a piezoelectric element) in a relatively small cavity, producing periodic cavity pressure variations associated with cavity volume changes. The pressured air exhausts through an orifice, converting diaphragm electrodynamic energy into jet kinetic energy. This review paper considers the development of various Lumped-Element Models (LEMs) as practical tools to design and manufacture the actuators. LEMs can quickly predict device performances such as the frequency response in terms of diaphragm displacement, cavity pressure and jet velocity, as well as the efficiency of energy conversion of input Joule power into useful kinetic power of air jet. The actuator performance is also analyzed by varying typical geometric parameters such as cavity height and orifice diameter and length, through a suited dimensionless form of the governing equations. A comprehensive and detailed physical modeling aimed to evaluate the device efficiency is introduced, shedding light on the different stages involved in the process. Overall, the influence of the coupling degree of the two oscillators, the diaphragm and the Helmholtz frequency, on the device performance is discussed throughout the paper. PMID:28587141

Bifactor Modeling of the Positive and Negative Syndrome Scale: Generalized Psychosis Spans Schizoaffective, Bipolar, and Schizophrenia Diagnoses.

PubMed

Anderson, Ariana E; Marder, Stephen; Reise, Steven P; Savitz, Adam; Salvadore, Giacomo; Fu, Dong Jing; Li, Qingqin; Turkoz, Ibrahim; Han, Carol; Bilder, Robert M

2018-02-06

Common genetic variation spans schizophrenia, schizoaffective and bipolar disorders, but historically, these syndromes have been distinguished categorically. A symptom dimension shared across these syndromes, if such a general factor exists, might provide a clearer target for understanding and treating mental illnesses that share core biological bases. We tested the hypothesis that a bifactor model of the Positive and Negative Syndrome Scale (PANSS), containing 1 general factor and 5 specific factors (positive, negative, disorganized, excited, anxiety), explains the cross-diagnostic structure of symptoms better than the traditional 5-factor model, and examined the extent to which a general factor reflects the overall severity of symptoms spanning diagnoses in 5094 total patients with a diagnosis of schizophrenia, schizoaffective, and bipolar disorder. The bifactor model provided superior fit across diagnoses, and was closer to the "true" model, compared to the traditional 5-factor model (Vuong test; P < .001). The general factor included high loadings on 28 of the 30 PANSS items, omitting symptoms associated with the excitement and anxiety/depression domains. The general factor had highest total loadings on symptoms that are often associated with the positive and disorganization syndromes, but there were also substantial loadings on the negative syndrome thus leading to the interpretation of this factor as reflecting generalized psychosis. A bifactor model derived from the PANSS can provide a stronger framework for measuring cross-diagnostic psychopathology than a 5-factor model, and includes a generalized psychosis dimension shared at least across schizophrenia, schizoaffective, and bipolar disorder. © The Author(s) 2018. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For permissions, please email: journals.permissions@oup.com

33 CFR 117.841 - Smith Creek.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Smith Creek. 117.841 Section 117.841 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements North Carolina § 117.841 Smith Creek. The draw of the S117-S133...

[Microalbuminuria in pediatric patients diagnosed with hemolytic uremic syndrome].

PubMed

Cubillos C, María Paz; Del Salas, Paulina; Zambrano, Pedro O

2015-01-01

Hemolytic uremic syndrome (HUS) is characterized by the presence of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. It is the leading cause of acute kidney failure in children under 3 years of age. A variable number of patients develop proteinuria, hypertension, and chronic renal failure. To evaluate the renal involvement in pediatric patients diagnosed with HUS using the microalbumin/creatinine ratio. Descriptive concurrent cohort study that analyzed the presence of microalbuminuria in patients diagnosed with HUS between January 2001 and March 2012, who evolved without hypertension and normal renal function (clearance greater than 90ml/min using Schwartz formula). Demographic factors (age, sex), clinical presentation at time of diagnosis, use of antibiotics prior to admission, and need for renal replacement therapy were evaluated. Of the 24 patients studied, 54% were male. The mean age at diagnosis was two years. Peritoneal dialysis was required in 45%, and 33% developed persistent microalbuminuria. Antiproteinuric treatment was introduce in 4 patients, with good response. The mean follow-up was 6 years (range 6 months to 11 years). The serum creatinine returned to normal in all patients during follow up. The percentage of persistent microalbuminuria found in patients with a previous diagnosis of HUS was similar in our group to that described in the literature. Antiproteinuric treatment could delay kidney damage, but further multicenter prospective studies are necessary. Copyright © 2015. Publicado por Elsevier España, S.L.U.

Standardization of stain used for diagnosing erythrocytic inclusion body syndrome (EIBS)

USGS Publications Warehouse

1987-01-01

Erythrocytic inclusion body syndrome (EIBS), a viral erythrocytic necrosis (VEN)-like disease, has been observed in several areas in the Northwest. This virus disease is clinically diagnosed by microscopic examination of blood smears for intracytoplasmic erythrocytic inclusion bodies. Fish biologists involved in EIBS diagnostic work have been using several types of hematological stains. It became apparent that standardization of the staining procedure was needed. Comparative tests were conducted on blood smears and kidney imprints with the following commonly used blood stains: (1) Leishman-Giesma, (2) Pinacyanol chloride, (3) Powell 's Giemsa, (4) Harleco's Giemsa, (5) Diff Quik differential stain, (6) Wright's.Pinacyanol chloride stain was found to be the most consistent. The following staining procedure is recommended.

The Treatment of Smith's Invisible Hand

ERIC Educational Resources Information Center

Wight, Jonathan B.

2007-01-01

Adam Smith used the metaphor of an invisible hand to represent the instincts of human nature that direct behavior. Moderated by self-control and guided by proper institutional incentives, actions grounded in instincts can be shown to generate a beneficial social order even if not intended. Smith's concept, however, has been diluted and distorted…

Bringing Sally Smith's Vision to Manayunk

ERIC Educational Resources Information Center

Ford, Jackie

2010-01-01

In this article, the author narrates her application of what she learned from her internship at Sally Smith's Lab School of Washington to her new school and shares the favorable impact it had brought on her teaching career. The author shares her first exposure to the powerful effects of Smith's "Live It, Learn It" methodology as she…

STS-110 Crew Interviews: Steve Smith

NASA Technical Reports Server (NTRS)

2002-01-01

STS-110 Mission Specialist Steve Smith is seen during this preflight interview, where he gives a quick overview of the mission before answering questions about his inspiration to become an astronaut and his career path. Smith outlines his role in the mission in general, and specifically during the docking and extravehicular activities (EVAs). He describes the payload (S0 Truss and Mobile Transporter) and the dry run installation of the S0 truss that will take place the day before the EVA for the actual installation. Smith discusses the planned EVAs in detail and outlines what supplies will be left for the resident crew of the International Space Station (ISS). He ends with his thoughts on the most valuable aspect of the ISS.

Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome

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

Rossbach, H.C.; Granan, N.H.; Rossi, A.R.

1996-01-02

Two brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them. Spontaneous and clastogen-induced breakage was markedly increased in both patients as compared to control individuals. Clinical manifestations and chromosome breakage, consistent with Fanconi anemia, in patients with a prior diagnosis of either Baller-Gerold syndrome, reported earlier in one other patient, or with VACTERL association with hydrocephalus, recently reported in 3 patients, underline the clinical heterogeneity of Fanconimore » anemia and raise the question of whether these syndromes are distinct disorders or phenotypic variations of the same disease. 12 refs., 3 figs., 1 tab.« less

Dialogue of Differences: The Writing of Henry Holmes Smith.

ERIC Educational Resources Information Center

Bossen, Howard

In addition to surveying the writings of Henry Holmes Smith, this paper explains his importance as a theoretician and practitioner of photography. After a discussion of Smith's ideas on "reading photographs" and his concerns with the ethics of photography, particularly of photojournalism, the essays in the book, "Henry Holmes Smith:…

Importance of correctly interpreting magnetic resonance imaging to diagnose posterior reversible encephalopathy syndrome associated with HELLP syndrome: a case report.

PubMed

Tetsuka, Syuichi; Nonaka, Hiroaki

2017-05-25

Severe haemolysis, elevated liver enzyme levels, and low platelet count (HELLP) syndrome in pregnancy are possible underlying trigger factors for posterior reversible encephalopathy syndrome (PRES). Magnetic resonance imaging (MRI) shows diffuse signal abnormalities involving the subcortical white matter in the parieto-occipital lobes. Although the diagnosis of RPES was clearly established by the distinctive reversibility of clinical and radiological abnormalities, it is difficult to distinguish from differential diagnosis. Thus, it is important to correctly interpret MRI. We describe a case of HELLP syndrome with PRES. A 38-year-old pregnant woman was admitted to our hospital as an emergency case with a complaint of upper abdominal pain and headache at 29 weeks of pregnancy and the development of HELLP syndrome. An emergency caesarean section was immediately performed. After the operation, the patient received intravenous corticosteroids, and her blood pressure was controlled. Thereafter, she showed an altered mental status. MRI showed hypersignal intense lesions in the cortical and subcortical white matter in the occipital lobes, basal ganglia and callosal splenium in both the fluid-attenuated inversion recovery (FLAIR) sequence and apparent diffusion coefficient (ADC), but these lesions were not recognized in diffusion-weighted imaging (DWI). These images were suggestive of PRES. The patient was kept in the hospital and received the appropriate treatment, after which the patient's level of consciousness improved and all laboratory tests and imaging examinations returned normal. The MRI findings were useful for the prompt diagnosis of PRES, characterized by hypersignals in FLAIR and ADC, but not in DWI. Additionally, there was an "atypical" MRI appearance of basal ganglial and callosal splenial involvement in this case, which may mistakenly lead clinicians to diagnose other aetiologies than typical PRES. It is considered that vasogenic oedema is the main

NREL'S Morgan-Smith Honored by Martin Luther King Commission

Science.gov Websites

Morgan-Smith Honored by Martin Luther King Commission For more information contact: Sarah Holmes Barba, 303-275-3023 email: Sarah Barba Golden, Colo., Jan. 9, 2001 - Syl Morgan-Smith, Colorado . 10 at 6 p.m. The event will honor the life and work of King and the eight 2001 awardees. Morgan-Smith

Homer W. Smith's contribution to renal physiology.

PubMed

Giebisch, Gerhard

2004-01-01

Homer Smith was, for three decades, from the 1930s until his death in 1962, one of the leaders in the field of renal physiology. His contributions were many: he played a major role in introducing and popularizing renal clearance methods, introduced non-invasive methods for the measurement of glomerular filtration rate, of renal blood flow and tubular transport capacity, and provided novel insights into the mechanisms of excretion of water and electrolytes. Homer Smith's contributions went far beyond his personal investigations. He was a superb writer of several inspiring textbooks of renal physiology that exerted great and lasting influence on the development of renal physiology. Smith's intellectual insights and ability for critical analysis of data allowed him to create broad concepts that defined the functional properties of glomeruli, tubules and the renal circulation. A distinguishing feature of Homer Smith's career was his close contact and collaboration, over many years, with several clinicians of his alma mater, New York University. For initiating these pathophysiological investigations, he is justly credited to have advanced, in a major way, our understanding of altered renal function in disease. Smith's lasting scientific impact is also reflected by a whole school of investigators that trained with him and who applied his methods, analyses and concepts to the study of renal function all over the world. So great was his influence and preeminence that Robert Pitts, in his excellent tribute to Homer Smith in the Memoirs of the National Academy of Science states that his death brought an end to what might be aptly called the Smithian Era of renal physiology.

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

PubMed

Piane, Maria; Della Monica, Matteo; Piatelli, Gianluca; Lulli, Patrizia; Lonardo, Fortunato; Chessa, Luciana; Scarano, Gioacchino

2009-11-01

We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin. Subsequent molecular analysis identified a novel homozygous single base insertion (c.1527_1528insA) in exon 10 of the PCNT gene, which leads to a frameshift (Treo510fs) and to premature protein truncation. PCNT mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested. Copyright 2009 Wiley-Liss, Inc.

78 FR 23845 - Drawbridge Operation Regulations; Narrow Bay, Smith Point, NY

Federal Register 2010, 2011, 2012, 2013, 2014

2013-04-23

... Operation Regulations; Narrow Bay, Smith Point, NY AGENCY: Coast Guard, DHS. ACTION: Notice of temporary... deviation from the regulation governing the operation of the Smith Point Bridge, mile 6.1, across Narrow Bay, between Smith Point and Fire Island, New York. The deviation is necessary to facilitate the Smith Point...

Guide to the Logan Pearsall Smith Collection.

ERIC Educational Resources Information Center

Pettit, Katherine Denshaw

A guide to the Logan Pearsall Smith Collection at Trinity University Elizabeth Coates Maddux Library in San Antonio, Texas provides a descriptive overview of the collected works of this renowned epigrammatist, critic, essayist, biographer, and authority on the English language. The guide includes a brief biography of Smith (1865-1946), detailed…

An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis.

PubMed

Yoshimura, Hidekane; Iwasaki, Satoshi; Kanda, Yukihiko; Nakanishi, Hiroshi; Murata, Toshinori; Iwasa, Yoh-ichiro; Nishio, Shin-ya; Takumi, Yutaka; Usami, Shin-ichi

2013-02-01

Usher syndrome type 1 (USH1) appears to have only profound non-syndromic hearing loss in childhood and retinitis pigmentosa develops in later years. This study examined the frequency of USH1 before the appearance of visual symptoms in Japanese deaf children by MYO7A mutation analysis. We report the case of 6-year-old male with profound hearing loss, who did not have visual symptoms. The frequency of MYO7A mutations in profound hearing loss children is also discussed. We sequenced all exons of the MYO7A gene in 80 Japanese children with severe to profound non-syndromic HL not due to mutations of the GJB2 gene (ages 0-14 years). A total of nine DNA variants were found and six of them were presumed to be non-pathogenic variants. In addition, three variants of them were found in two patients (2.5%) with deafness and were classified as possible pathogenic variants. Among them, at least one nonsense mutation and one missense mutation from the patient were confirmed to be responsible for deafness. After MYO7A mutation analysis, the patient was diagnosed with RP, and therefore, also diagnosed with USH1. This is the first case report to show the advantage of MYO7A mutation analysis to diagnose USH1 before the appearance of visual symptoms. We believed that MYO7A mutation analysis is valid for the early diagnosis of USH1. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

A Language Programme to Increase the Verbal Production of a Child Dually Diagnosed with Down Syndrome and Autism

ERIC Educational Resources Information Center

Kroeger, K. A.; Nelson, W. M., III

2006-01-01

Background: The incidence of children dually diagnosed with Down syndrome and autism is estimated to be as high as 11%. There is a paucity of research investigating linguistic treatment interventions for such children. This single-subject experiment examined a programme designed to increase the language production and verbal behaviour of a…

Adam Smith and the Rhetoric of Style.

ERIC Educational Resources Information Center

Moran, Michael G.

Historians of rhetoric have generally accepted the view that Adam Smith rejected the principles of classical rhetoric. However, while there can be no doubt that Smith greatly truncated the five classical arts of rhetoric (invention, arrangement, style, memory, and delivery) by reducing his concerns largely to style and arrangement, he did not…

Axis I psychiatric diagnoses in adolescents and young adults with 22q11 deletion syndrome

PubMed Central

Ousley, O.Y.; Smearman, E.; Fernandez-Carriba, S.; Rockers, K.A.; Coleman, K.; Walker, E.F.; Cubells, J.F.

2017-01-01

Background 22q11.2 deletion syndrome (22q11DS) associates with schizophrenia spectrum disorders (SSDs), autism spectrum disorders (ASDs), and other psychiatric disorders, but co-occurrence of diagnoses are not well described. Methods We evaluated the co-occurrence of SSDs, ASDs and other axis I psychiatric diagnoses in 31 adolescents and adults with 22q11DS, assessing ASDs using either stringent Collaborative Program for Excellence in Autism (ASD-CPEA) criteria, or less stringent DSM-IV criteria alone (ASD-DSM-IV). Results Ten (32%) individuals met criteria for an SSD, five (16%) for ASD-CPEA, and five others (16%) for ASD-DSM-IV. Of those with ASD-CPEA, one (20%) met SSD criteria. Of those with ASD-DSM-IV, four (80%) met SSD criteria. Depressive disorders (8 individuals; 26%) and anxiety disorders (7; 23%) sometimes co-occurred with SSDs and ASDs. SSDs, ASDs, and anxiety occurred predominantly among males and depression predominantly among females. Conclusions Individuals with 22q11DS can manifest SSDs in the presence or absence of ASDs and other axis I diagnoses. The results suggest that standard clinical care should include childhood screening for ASDs, and later periodic screening for all axis I diagnoses. PMID:23916466

[The normalized smoothness index and parametric population RDH index of losartan in patients with newly diagnosed hypertension and metabolic syndrome].

PubMed

Rihácek, I; Frána, P; Schwarz, D; Plachý, M; Soucek, M

2010-09-01

Ambulatory blood pressure monitoring provides an opportunity to evaluate 24-hour efficacy of once daily preparations. To evaluate 24-hour efficacy of losartan in patients with newly diagnosed hypertension and metabolic syndrome using the parametric population RDH index and normalized smoothness index. Twenty seven patients with newly diagnosed hypertension and with metabolic syndrome, sufficiently responding to blood pressure therapy with losartan, assessed using sphygmomanometer. 18 men, 9 women, mean age of 48 years, body mass index of 32.6 kg.m(-2), before and after 1 year of therapy with losartan in the mean dose of 69 mg once a day. Blood pressure measured with sphygmomanometer and 24-hour ambulatory monitoring (SpaceLabs 90207) according to the European Society of Hypertension criteria. Hypertension was defined as sphygmomanometer-measured blood pressure values of more than or equal to 130 and/or 85 mm Hg. Fulfilment of at least 3 criteria of metabolic syndrome according to the definition by The Adult Treatment Panel III. The population normalized smoothness index of losartan (+/- standard error of the mean) was 1.10 +/- 0.13 for systolic pressure, 0.81 +/- 0.11 for diastolic pressure and 1.00 +/- 0.14 for mean arterial blood pressure. The parametric population RDH index of 24, 24, 0 for systolic pressure and 24, 24, 0 for diastolic pressure. Losartan at a mean dose of 69 mg once daily showed an adequate 24-hour efficacy in patients with newly diagnosed hypertension and metabolic syndrome responding to treatment when blood pressure was measured using sphygmomanometer and the effect expressed as the parametric population RDH index for systolic as well as diastolic pressure and when evaluating normalized smoothness index based on systolic blood pressure value and mean arterial pressure.

[Survival Benefit by Combined Administration of Cyclophosphamide, Lentinula edodes Mycelia Extract(LEM), and Ganoderma lucidum Mycelia Extract(MAK)in S1018B10 Tumor-Bearing Mice].

PubMed

Sukegawa, Yasushi; Kawamura, Junichiro; Okuno, Kiyotaka

2017-10-01

Cyclophosphamide(CY)was intraperitoneally administered once a week to C57BL/10mice that had received Rous sarcoma virus(RSV)-induced S1018B10 syngeneic tumor transplantation and in whom tumor diameter exceeded 4.5 mm. Survival was prolonged in a group of mice that also received a mixture of LEM and MAK orally. When splenic cells were cultured under mitomycin C-treated S1018B10 stimulation and the S1018B10-directed cell killing ability was examined, the effector cells were found to be F4/80 - DC/Mф cells. Flow cytometric analysis showed that the proportion of F4/80- DC/Mф cells in the splenic cell culture of the CY+LEM+MAK treatment group was higher than that in the untreated group. The ratio of F4/80+ CD8a+ cells in the CY+LEM+MAK treatment group was lower than that in the untreated group.

Drs. Smith Brothers: dental surgeons of Calcutta.

PubMed

Sanjeev, Kumar

2014-01-01

During the British raj, India attracted dental practitioners from all over the world who set up practices in the Presidency towns of Calcutta, Bombay, Madras and Bangalore. Lured by the abundant opportunity to make good money, these mercenary but courageous dentists counted Viceroys, Indian royalty and political leaders amongst their clients. Some, like the famous American Smith Brothers of Calcutta, were sought after even by the rulers of neighboring countries. Dr. Mark Smith's hazardous visit to the Amir of Afghanistan made worldwide headlines more than 100 years ago for the fabulous fee he was paid for the dental treatment. This paper briefly describes the exploits and experiences of the Smith brothers while in India.

How Do Health Care Providers Diagnose Adrenal Gland Disorders?

MedlinePlus

... News and Features Researchers identify gene involved in food-dependent Cushing syndrome NIH researchers find potential genetic cause of Cushing syndrome Hair analysis may help diagnose Cushing Syndrome, NIH researchers report ...

[Evaluating the relation of premenstrual syndrome and primary dysmenorrhea in women diagnosed with fibromyalgia].

PubMed

Terzi, Rabia; Terzi, Hasan; Kale, Ahmet

2015-01-01

In this study, we aimed to investigate the presence of premenstrual syndrome (PMS), primary dysmenorrhea (PD) and depression among women with fibromyalgia (FM) and healthy females and to determine possible factors related with PMS and PD in FM. The present study was conducted on 98 female patients diagnosed with FM and 102 age and sex-matched healthy controls. All patients were evaluated for premenstrual syndrome (PMS) and primary dysmenorrhea (PD). Premenstrual syndrome was assessed among the patients for the presence of one or more affective or somatic symptoms within the five days preceding menses. The diagnosis of primary dysmenorrhea was defined as having abdominal pain or lower back pain lasting at least two days during a menstrual period. Dysmenorrhea was assessed via visual analog scale. Dysmenorrhea was rated via Multidimensional Scoring System. The Hamilton depression scale was applied to all patients. Primary dysmenorrhea was established in 41% of FM patients and 28% of the control group. A statistically significant difference was found in PD between the two groups (p=0.03). PMS was established in 42% of the FM patients and 25% of the control group. A statistically significant difference was found in PMS between the two groups (p=0.03). There is an increased frequency of premenstrual syndrome and dysmenorrhea in FM patients. The patients with high symptom severity scores and high depression scores among the FM patients are at risk of PMS and PD. Copyright © 2015 Elsevier Editora Ltda. All rights reserved.

Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits.

PubMed

Moshier, M S; York, T P; Silberg, J L; Elsea, S H

2012-10-01

Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder that affects approximately one out of 25,000 births worldwide. To date, no research has been conducted to investigate how having an individual with SMS in a family is a positive or negative influence on siblings. To investigate this question we conducted a study involving 79 siblings and 60 parents of individuals with SMS to assess perceptions of how having a sibling with SMS positively and negative influence siblings' behavioural traits. Our findings show that age of siblings of individuals with SMS was associated with a significant increase in positive behavioural traits and a significant decrease in negative behavioural traits. Additionally, siblings who perceive benefits from having a sibling with SMS demonstrate significantly more positive behavioural traits and significantly fewer negative behavioural traits. Parents accurately assess the changes in sibling behavioural traits with age, and parents who perceive their child as having experienced benefits from the sibling relationship report that siblings demonstrate significantly more positive behavioural traits and significantly fewer negative behavioural traits. Our research shows that although individuals experience difficulties as a result of having a sibling with SMS, overall, siblings tend to fare well and parents appreciate both the positive and negative behavioural effects that result from having a sibling with SMS. © 2012 The Authors. Journal of Intellectual Disability Research © 2012 Blackwell Publishing Ltd.

Fission yeast Lem2 and Man1 perform fundamental functions of the animal cell nuclear lamina.

PubMed

Gonzalez, Yanira; Saito, Akira; Sazer, Shelley

2012-01-01

In animal cells the nuclear lamina, which consists of lamins and lamin-associated proteins, serves several functions: it provides a structural scaffold for the nuclear envelope and tethers proteins and heterochromatin to the nuclear periphery. In yeast, proteins and large heterochromatic domains including telomeres are also peripherally localized, but there is no evidence that yeast have lamins or a fibrous nuclear envelope scaffold. Nonetheless, we found that the Lem2 and Man1 proteins of the fission yeast Schizosaccharomyces pombe, evolutionarily distant relatives of the Lap2/Emerin/Man1 (LEM) sub-family of animal cell lamin-associated proteins, perform fundamental functions of the animal cell lamina. These integral inner nuclear membrane localized proteins, with nuclear localized DNA binding Helix-Extension-Helix (HEH) domains, impact nuclear envelope structure and integrity, are essential for the enrichment of telomeres at the nuclear periphery and by means of their HEH domains anchor chromatin, most likely transcriptionally repressed heterochromatin, to the nuclear periphery. These data indicate that the core functions of the nuclear lamina are conserved between fungi and animal cells and can be performed in fission yeast, without lamins or other intermediate filament proteins.

Decay of postexercise augmentation in the Lambert-Eaton myasthenic syndrome: effect of cooling.

PubMed

Maddison, P; Newsom-Davis, J; Mills, K R

1998-04-01

The effect of local cooling on surface recorded compound muscle action potential (CMAP) amplitude was studied in five patients with the Lambert-Eaton myasthenic syndrome (LEMS). The time course of decay of postexercise augmentation of CMAP amplitude characteristically seen in patients with LEMS was determined. We recorded the CMAP from abductor digiti minimi (ADM) in response to supramaximal stimulation of the ulnar nerve. Thirty consecutive stimuli were delivered at 1 Hz immediately after a 10-second period of maximal voluntary contraction. Skin surface temperature was recorded throughout. Initial testing at approximately 30 degrees C was repeated after cooling the hand and forearm by 6 to 12 degrees C. The effects of blood flow on temperature were counteracted by the application of a sphygmomanometer cuff, inflated above systolic blood pressure. The CMAP amplitude following contraction decayed in an exponential manner both during warm and cold conditions. The mean time constant for decay (1/b) in all patients was increased by approximately 25% after cooling. This prolongation of the period of postexercise augmentation of CMAP amplitude in LEMS after cooling concurs with patient reports of symptomatic improvement in cold weather. The mechanism for this benefit is thought to be due to reduction in the rate of removal of calcium ions from the nerve terminal following stimulation, similar to that seen in animal models of short-term synaptic enhancement.

Accuracy of automatic syndromic classification of coded emergency department diagnoses in identifying mental health-related presentations for public health surveillance.

PubMed

Liljeqvist, Henning T G; Muscatello, David; Sara, Grant; Dinh, Michael; Lawrence, Glenda L

2014-09-23

Syndromic surveillance in emergency departments (EDs) may be used to deliver early warnings of increases in disease activity, to provide situational awareness during events of public health significance, to supplement other information on trends in acute disease and injury, and to support the development and monitoring of prevention or response strategies. Changes in mental health related ED presentations may be relevant to these goals, provided they can be identified accurately and efficiently. This study aimed to measure the accuracy of using diagnostic codes in electronic ED presentation records to identify mental health-related visits. We selected a random sample of 500 records from a total of 1,815,588 ED electronic presentation records from 59 NSW public hospitals during 2010. ED diagnoses were recorded using any of ICD-9, ICD-10 or SNOMED CT classifications. Three clinicians, blinded to the automatically generated syndromic grouping and each other's classification, reviewed the triage notes and classified each of the 500 visits as mental health-related or not. A "mental health problem presentation" for the purposes of this study was defined as any ED presentation where either a mental disorder or a mental health problem was the reason for the ED visit. The combined clinicians' assessment of the records was used as reference standard to measure the sensitivity, specificity, and positive and negative predictive values of the automatic classification of coded emergency department diagnoses. Agreement between the reference standard and the automated coded classification was estimated using the Kappa statistic. Agreement between clinician's classification and automated coded classification was substantial (Kappa = 0.73. 95% CI: 0.58 - 0.87). The automatic syndromic grouping of coded ED diagnoses for mental health-related visits was found to be moderately sensitive (68% 95% CI: 46%-84%) and highly specific at 99% (95% CI: 98%-99.7%) when compared with the

Clinical efficacy of dim light melatonin onset testing in diagnosing delayed sleep phase syndrome.

PubMed

Rahman, Shadab A; Kayumov, Leonid; Tchmoutina, Ekaterina A; Shapiro, Colin M

2009-05-01

Delayed Sleep Phase Syndrome (DSPS) arises from biological clock desynchrony and accounts for 10% of chronic insomnia patients. Currently DSPS is diagnosed based on sleep/wake cycle disruptions rather than examining the underlying biological clock alterations. The objective of the study was to determine the sensitivity and specificity of the Dim Light Melatonin Onset (DLMO) Test in diagnosing DSPS in a clinical setting. Fifty-six patients (mean age 28 years) symptomatic of DSPS participated in the study. Following an initial assessment of DSPS using sleep diaries, participants underwent two consecutive nights of polysomnography (PSG), with an imposed sleep period on the second night to demonstrate the delay in the timing of habitual sleep period and to thereby confirm DSPS. Circadian phase delays were also measured using melatonin secretion profiles, and the efficacy of diagnosing DSPS using DLMO was compared to using sleep diaries and PSG. Melatonin secretion was assayed for each individual by ELISA using saliva samples. Main outcome measures included the time of melatonin secretion onset, clinical sensitivity and specificity of the DLMO test. The time of melatonin secretion onset was significantly delayed in DSPS patients. Clinical sensitivity and specificity of the DLMO test in diagnosing DSPS were 90.3% and 84.0%, respectively. The DLMO test is an accurate tool for differentiating between sleep disorder patients with or without underlying circadian rhythm disruption. It is effective for phase typing DSPS patients in a clinical setting.

The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2

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

Kimura, Toshiyuki; Arakawa, Yoshiki; Inazawa, Johji

1997-03-31

Smith-Magenis syndrome (SAIS) is caused by a microdeletion of 17p11.2 and comprises developmental and growth delay, facial abnormalities, unusual behavior and sleep problems. This phenotype may be due to haploinsufficiency of several contiguous genes. The human brain finger protein gene (ZNF179), a member of the RING finger protein family, has been isolated and mapped to l7p11.2. FISH analyses of metaphase or interphase chromosomes of 6 patients with SMS show that ZNF179 was deleted in one of the 2 homologs (17p11.2), indicating a possible association of the defect of this gene with the pathogenesis of SMS. Furthermore, using a prophase FISHmore » ordering system, we sublocalized ZNF179 proximally to LLGL which lies on the critical region for SMS. 27 refs., 2 figs.« less

Asperger's Syndrome: A Comparison of Clinical Diagnoses and Those Made According to the ICD-10 and DSM-IV

ERIC Educational Resources Information Center

Woodbury-Smith, Marc; Klin, Ami; Volkmar, Fred

2005-01-01

The diagnostic criteria for Asperger Syndrome (AS) according to ICD-10 and DSM-IV have been criticized as being too narrow in view of the rules of onset and precedence, whereby autism takes precedence over AS in a diagnostic hierarchy. In order to investigate this further, cases from the DSM-IV multicenter study who had been diagnosed clinically…

Diagnostic criteria of traumatic central cord syndrome. Part 3: descriptive analyses of neurological and functional outcomes in a prospective cohort of traumatic motor incomplete tetraplegics.

PubMed

Pouw, M H; van Middendorp, J J; van Kampen, A; Curt, A; van de Meent, H; Hosman, A J F

2011-05-01

Prospective multicenter cohort study. To compare the neurological recovery and functional outcomes between traumatic central cord syndrome (TCCS) patients and motor incomplete tetraplegic patients. European Multicenter Study of human spinal cord injury. In 248 traumatic motor incomplete tetraplegics, initial phase (0-15 days) American Spinal Injury Association (ASIA) impairment grading, upper and lower extremity motor scores (UEMS and LEMS), upper and lower sensory scores and chronic phase (6 or 12 months) neurological outcomes were analyzed. In addition, chronic phase self-care and indoor mobility Spinal Cord Independence Measure (SCIM) items were studied. Tetraplegics were subdivided into three groups: (1) non-TCCS group (UEMSLEMS), (2) intermediate-TCCS group (UEMS=(1-9 points)<LEMS) and (3) TCCS group (UEMS=(10 points)<LEMS). Student's t-tests and χ(2)-tests were applied. A total of 89 non-TCCS subjects (AIS D, n=28), 62 int-TCCS (AIS D, n=43) and 97 TCCS (AIS D, n=80) subjects were analysed. Although minimal significant differences in chronic phase LEMS and UEMS outcomes were identified between TCCS and non-TCCS patients after stratification by the AIS grade, our data showed no significant differences in functional upper and lower extremity outcomes at 6 or 12 months post-injury. The AIS grading system, and not the diagnosis TCCS, continues to be the best available prognostic parameter for neurological and functional outcomes in motor incomplete tetraplegics. The authors recommend that for future outcome studies in motor incomplete tetraplegia, patients should not be selected based on, or stratified by, the diagnosis TCCS.

Medial tibial stress syndrome can be diagnosed reliably using history and physical examination.

PubMed

Winters, M; Bakker, E W P; Moen, M H; Barten, C C; Teeuwen, R; Weir, A

2017-02-08

The majority of sporting injuries are clinically diagnosed using history and physical examination as the cornerstone. There are no studies supporting the reliability of making a clinical diagnosis of medial tibial stress syndrome (MTSS). Our aim was to assess if MTSS can be diagnosed reliably, using history and physical examination. We also investigated if clinicians were able to reliably identify concurrent lower leg injuries. A clinical reliability study was performed at multiple sports medicine sites in The Netherlands. Athletes with non-traumatic lower leg pain were assessed for having MTSS by two clinicians, who were blinded to each others' diagnoses. We calculated the prevalence, percentage of agreement, observed percentage of positive agreement (Ppos), observed percentage of negative agreement (Pneg) and Kappa-statistic with 95%CI. Forty-nine athletes participated in this study, of whom 46 completed both assessments. The prevalence of MTSS was 74%. The percentage of agreement was 96%, with Ppos and Pneg of 97% and 92%, respectively. The inter-rater reliability was almost perfect; k=0.89 (95% CI 0.74 to 1.00), p<0.000001. Of the 34 athletes with MTSS, 11 (32%) had a concurrent lower leg injury, which was reliably noted by our clinicians, k=0.73, 95% CI 0.48 to 0.98, p<0.0001. Our findings show that MTSS can be reliably diagnosed clinically using history and physical examination, in clinical practice and research settings. We also found that concurrent lower leg injuries are common in athletes with MTSS. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

The information needs of women diagnosed with Polycystic Ovarian Syndrome – implications for treatment and health outcomes

PubMed Central

Avery, Jodie C; Braunack-Mayer, Annette J

2007-01-01

Background This paper reports the findings of an exploratory study about the information women diagnosed with Polycystic Ovarian Syndrome (PCOS) want to know about their condition and the consequences of this information for future treatment and health outcomes. Methods In-depth qualitative interviews regarding their information needs were undertaken with ten South Australian women diagnosed with PCOS. These women were aged 28–38 years and at differing stages of their fertility experience. The time since diagnosis ranged from 1–17 years. The main outcome measures sought were the identification of the information needs of women diagnosed with Polycystic Ovarian Syndrome (PCOS) during different periods of their lives; how and where they obtain this information, and the consequences of this information for future treatment and health outcomes. Results The women with PCOS in this study preferentially used the Internet for their information needs, as it had the advantages of convenience, privacy and accessibility, when compared with traditional mechanisms of information provision. Conclusion Giving a name to a collection of symptoms may bring relief and provide recognition that there really is a problem. However, with a diagnosis comes the need to have questions answered. A diagnosis of a chronic condition such as PCOS necessitates decision-making regarding possible treatment strategies and lifestyle choices. Information is needed in order to participate in shared decision making. The Internet proved to be a most versatile and beneficial source of information source for women with PCOS, if its limitations are taken into consideration. PMID:17578583

Sunrayce 97 Continues Day 6 - Manhattan to Smith Center

Science.gov Websites

6 - Manhattan to Smith Center For more information contact: Patrick Booher, Sunrayce Program Manager (202) 586-0713 Smith Center, Kan.- --Racing across the heartland of Kansas at 46.11 mph

Genetics Home Reference: Bohring-Opitz syndrome

MedlinePlus

... Most cases of the condition result from new (de novo) mutations in the gene that occur during ... BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings ...

[The role of fetal echocardiography in the prenatal diagnosis of aneuploidy based upon prenatally diagnosed patau syndrome fetuses (case analysis)].

PubMed

Janiak, Katarzyna; Kaczmarek, Piotr; Krasoń, Aneta; Nowicki, Grzegorz; Piotrowicz, Małgorzata; Respondek-Liberska, Maria

2002-07-01

Assessment of usefulness of the fetal echocardiography and genetic sonography in prenatal diagnosis trisomy 13 (retrospective analysis). Between 1994-1999 at the Department for Diagnosis of Congenital Malformation at the Institute of PPMH in 11 fetuses with Patau Syndrome ultrasound and echocardiography examination were performed. In our study the most of cases come from low risk of pregnant women. Fetal heart defect was the most common anomaly diagnosed prenatally in fetuses with Patau Syndrome (7/11), the second one were central nervous system anomalies (6/11) and genitourinary system anomalies (6/11).

76 FR 60733 - Drawbridge Operation Regulations; Narrow Bay, Smith Point, NY

Federal Register 2010, 2011, 2012, 2013, 2014

2011-09-30

... Operation Regulations; Narrow Bay, Smith Point, NY AGENCY: Coast Guard, DHS. ACTION: Notice of temporary... deviation from the regulation governing the operation of the Smith Point Bridge, 6.1, across Narrow Bay, between Smith Point and Fire Island, New York. The deviation is necessary to facilitate bridge...

Oscar F. Smith Middle School: One Extra Degree

ERIC Educational Resources Information Center

Principal Leadership, 2012

2012-01-01

This article features Oscar F. Smith Middle School, a challenging school in Chesapeake, Virginia. When Principal Linda Scott exclaims, "Oscar F. Smith Middle School is "hot"!" to visitors, she is not referring to the inside temperature of the bustling school of grades 6-8 located in the historic South Norfolk borough of…

Repetitive nerve stimulation and single-fiber electromyography in the evaluation of patients with suspected myasthenia gravis or Lambert-Eaton myasthenic syndrome: Review of recent literature.

PubMed

Chiou-Tan, Faye Y; Gilchrist, James M

2015-09-01

Our aim in this study was to provide an updated literature review of electrodiagnostic testing in myasthenia gravis and Lambert-Eaton myasthenic syndrome. A systematic review of the recent literature was performed using the following key words: myasthenia gravis (MG); Lambert-Eaton myasthenic syndrome (LEMS); electromyography (EMG); repetitive nerve stimulation (RNS); single-fiber electromyography (SFEMG); nerve conduction study; and normative values. Several articles supported testing of facial, bulbar, and respiratory muscles in the diagnosis of neuromuscular junction (NMJ) disorders, including muscle-specific kinase antibody (MuSK)-seropositive MG. Several articles supported use of concentric needle EMG as an alternative to SFEMG jitter in disorders of neuromuscular transmission. A limited number of articles addressed measurement of area (vs. amplitude) decrement in RNS and decreasing the threshold of post-exercise facilitation. Electrodiagnostic testing continues to be useful for diagnosis of MG and LEMS, although the quality of the evidence is not great. This literature review summarizes RNS and jitter measurement of facial and respiratory muscles and use of concentric needle EMG for SFEMG. © 2015 American Association of Neuromuscular and Electrodiagnostic Medicine.

STS-82 Mission Specialist Steven L. Smith Suit Up

NASA Technical Reports Server (NTRS)

1997-01-01

STS-82 Mission Specialist Steven L. Smith gives a ''';thumbs up'''; while donning his launch and entry suit in the Operations and Checkout Building. A suit technician stands ready to assist with final adjustments. This is Smith''';s second space flight. He and the six other crew members will depart shortly for Launch Pad 39A, where the Space Shuttle Discovery awaits liftoff on a 10-day mission to service the orbiting Hubble Space Telescope (HST). This will be the second HST servicing mission. Four back-to-back spacewalks are planned.

Waldo E. Smith receives first award of his namesake medal

NASA Astrophysics Data System (ADS)

Smith, Waldo E.

This evening marks the first presentation of the American Geophysical Union's Waldo E. Smith Award. While all other AGU awards and honors are given for excellence in scientific research in one or another of the geophysical disciplines, this award is different. The Waldo E. Smith Award is given for dedicated and extraordinary service to geophysics and AGU. It is the principal purpose of this citation to show why it is particularly appropriate that an award for service to American geophysics should be called the Waldo E. Smith Award. A secondary objective, aimed at those present tonight, is to introduce the first recipient of this award, Waldo E. Smith, Executive Director Emeritus of AGU.

78 FR 32250 - CDM Smith and Dynamac Corp; Transfer of Data

Federal Register 2010, 2011, 2012, 2013, 2014

2013-05-29

... ENVIRONMENTAL PROTECTION AGENCY [EPA-HQ-OPP-2013-0036; FRL-9387-5] CDM Smith and Dynamac Corp... the submitter, will be transferred to CDM Smith and its subcontractor, Dynamac Corp, in accordance with 40 CFR 2.307(h)(3) and 2.308(i)(2). CDM Smith and its subcontractor, Dynamac Corp, have been...

Alternative Fuels Data Center: Smith Dairy Deploys Natural Gas Vehicles and

Science.gov Websites

Fueling Infrastructure in the Midwest Smith Dairy Deploys Natural Gas Vehicles and Fueling Infrastructure in the Midwest to someone by E-mail Share Alternative Fuels Data Center: Smith Dairy Deploys Data Center: Smith Dairy Deploys Natural Gas Vehicles and Fueling Infrastructure in the Midwest on

Predictive factors for the Nursing Diagnoses in people living with Acquired Immune Deficiency Syndrome 1

PubMed Central

da Silva, Richardson Augusto Rosendo; Costa, Romanniny Hévillyn Silva; Nelson, Ana Raquel Cortês; Duarte, Fernando Hiago da Silva; Prado, Nanete Caroline da Costa; Rodrigues, Eduardo Henrique Fagundes

2016-01-01

Abstract Objective: to identify the predictive factors for the nursing diagnoses in people living with Acquired Immune Deficiency Syndrome. Method: a cross-sectional study, undertaken with 113 people living with AIDS. The data were collected using an interview script and physical examination. Logistic regression was used for the data analysis, considering a level of significance of 10%. Results: the predictive factors identified were: for the nursing diagnosis of knowledge deficit-inadequate following of instructions and verbalization of the problem; for the nursing diagnosis of failure to adhere - years of study, behavior indicative of failure to adhere, participation in the treatment and forgetfulness; for the nursing diagnosis of sexual dysfunction - family income, reduced frequency of sexual practice, perceived deficit in sexual desire, perceived limitations imposed by the disease and altered body function. Conclusion: the predictive factors for these nursing diagnoses involved sociodemographic and clinical characteristics, defining characteristics, and related factors, which must be taken into consideration during the assistance provided by the nurse. PMID:27384466

Operation of a LAr-TPC equipped with a multilayer LEM charge readout

DOE PAGES

Baibussinov, B.; Centro, S.; Farnese, C.; ...

2018-03-01

A novel detector for ionization signals in a single phase LAr-TPC has been experimented in the ICARINO test facility at the INFN Laboratories in Legnaro. It is based on the adoption of a multilayer Large Electron Multiplier (LEM) replacing the traditional anodic wire arrays. Cosmic muon tracks were detected allowing the measurement of energy deposition and a first determination of the signal to noise ratio. The analysis of the recorded events thus demonstrated the 3D reconstruction capability of this device for ionizing events in liquid Argon. The collected fraction of ionization charge is close to about 90%, with signal tomore » noise ratio similar to that measured with more traditional wire chambers.« less

Operation of a LAr-TPC equipped with a multilayer LEM charge readout

NASA Astrophysics Data System (ADS)

Baibussinov, B.; Centro, S.; Farnese, C.; Fava, A.; Gibin, D.; Guglielmi, A.; Meng, G.; Pietropaolo, F.; Varanini, F.; Ventura, S.; Zatrimaylov, K.

2018-03-01

A novel detector for ionization signals in a single phase LAr-TPC has been experimented in the ICARINO test facility at the INFN Laboratories in Legnaro. It is based on the adoption of a multilayer Large Electron Multiplier (LEM) replacing the traditional anodic wire arrays. Cosmic muon tracks were detected allowing the measurement of energy deposition and a first determination of the signal to noise ratio. The analysis of the recorded events demonstrated the 3D reconstruction capability of this device for ionizing events in liquid Argon. The collected fraction of ionization charge is close to about 90%, with signal to noise ratio similar to that measured with more traditional wire chambers.

Operation of a LAr-TPC equipped with a multilayer LEM charge readout

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

Baibussinov, B.; Centro, S.; Farnese, C.

A novel detector for ionization signals in a single phase LAr-TPC has been experimented in the ICARINO test facility at the INFN Laboratories in Legnaro. It is based on the adoption of a multilayer Large Electron Multiplier (LEM) replacing the traditional anodic wire arrays. Cosmic muon tracks were detected allowing the measurement of energy deposition and a first determination of the signal to noise ratio. The analysis of the recorded events thus demonstrated the 3D reconstruction capability of this device for ionizing events in liquid Argon. The collected fraction of ionization charge is close to about 90%, with signal tomore » noise ratio similar to that measured with more traditional wire chambers.« less

MAGNETIZED GAS IN THE SMITH HIGH VELOCITY CLOUD

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

Hill, Alex S.; McClure-Griffiths, Naomi M.; Mao, S. A.

2013-11-01

We report the first detection of magnetic fields associated with the Smith High Velocity Cloud. We use a catalog of Faraday rotation measures toward extragalactic radio sources behind the Smith Cloud, new H I observations from the Robert C. Byrd Green Bank Telescope, and a spectroscopic map of Hα from the Wisconsin H-Alpha Mapper Northern Sky Survey. There are enhancements in rotation measure (RM) of ≈100 rad m{sup –2} which are generally well correlated with decelerated Hα emission. We estimate a lower limit on the line-of-sight component of the field of ≈8 μG along a decelerated filament; this is amore » lower limit due to our assumptions about the geometry. No RM excess is evident in sightlines dominated by H I or Hα at the velocity of the Smith Cloud. The smooth Hα morphology of the emission at the Smith Cloud velocity suggests photoionization by the Galactic ionizing radiation field as the dominant ionization mechanism, while the filamentary morphology and high (≈1 Rayleigh) Hα intensity of the lower-velocity magnetized ionized gas suggests an ionization process associated with shocks due to interaction with the Galactic interstellar medium. The presence of the magnetic field may contribute to the survival of high velocity clouds like the Smith Cloud as they move from the Galactic halo to the disk. We expect these data to provide a test for magnetohydrodynamic simulations of infalling gas.« less

77 FR 13593 - PowerSmith Cogeneration Project, LP; Notice of Request for Waiver

Federal Register 2010, 2011, 2012, 2013, 2014

2012-03-07

...] PowerSmith Cogeneration Project, LP; Notice of Request for Waiver Take notice that on February 27, 2012... CFR 292.205(c), PowerSmith Cogeneration Project, LP (PowerSmith) filed a Request for Waiver, for... Regulations for the topping- cycle cogeneration facility owned and operated by PowerSmith located in Oklahoma...

Fukushima to receive Smith Medal

NASA Astrophysics Data System (ADS)

The 1990 Waldo E. Smith Medal for extraordinary service to geophysics will be given to Naoshi Fukushima, who earned an international reputation for his pioneering work in geomagnetic disturbance and ionospheric electric currents. Now retired from the University of Tokyo, Japan, Fukushima is being cited for his public service to international geophysics, and, in particular, his contributions to the International Association of Geomagnetism and Aeronomy, of which he was Secretary General from September 1975 to August 1983.The Smith Medal will be presented as part of the AGU Fall Meeting Honors Night festivities, Wednesday, December 5, in San Francisco, Calif. Three James B. Macelwane Medals, the John Adam Fleming Medal, and the Maurice Ewing Medal will also be presented (see Eos, February 20, 1990, p. 294).

Illustrated & Dissected: Professor Richard Sawdon Smith.

PubMed

2015-06-01

This Alternative Gallery feature introduces the photographic artist Professor Richard Sawdon Smith. Professor Sawdon Smith's work stems around a fascination with representations of anatomy that have been fuelled by his experience as a hospital patient. The work has allowed him to explore ideas through the use of medical illustrations which include early anatomical drawings, personal medical photography and facial modelling. The work highlights how such imagery can be used in the context of a patient seeking understanding and acceptance of ill health and disease using the body as a canvas on which to translate the experience.

STS-103 Crew Interviews: Steven Smith

NASA Technical Reports Server (NTRS)

1999-01-01

Live footage of a preflight interview with Mission Specialist Steven L. Smith is seen. The interview addresses many different questions including why Brown became an astronaut, the events that led to his interest, any role models that he had, and his inspiration. Other interesting information that this one-on-one interview discusses is an explanation of the why this required mission to service the Hubble Space Telescope must take place at such an early date, replacement of the gyroscopes, transistors, and computers. Also discussed is Smith's responsibility during any of the planned space walks scheduled for this mission.

Synchronous genetic turnovers across Western Eurasia in Late Pleistocene collared lemmings.

PubMed

Palkopoulou, Eleftheria; Baca, Mateusz; Abramson, Natalia I; Sablin, Mikhail; Socha, Paweł; Nadachowski, Adam; Prost, Stefan; Germonpré, Mietje; Kosintsev, Pavel; Smirnov, Nickolay G; Vartanyan, Sergey; Ponomarev, Dmitry; Nyström, Johanna; Nikolskiy, Pavel; Jass, Christopher N; Litvinov, Yuriy N; Kalthoff, Daniela C; Grigoriev, Semyon; Fadeeva, Tatyana; Douka, Aikaterini; Higham, Thomas F G; Ersmark, Erik; Pitulko, Vladimir; Pavlova, Elena; Stewart, John R; Węgleński, Piotr; Stankovic, Anna; Dalén, Love

2016-05-01

Recent palaeogenetic studies indicate a highly dynamic history in collared lemmings (Dicrostonyx spp.), with several demographical changes linked to climatic fluctuations that took place during the last glaciation. At the western range margin of D. torquatus, these changes were characterized by a series of local extinctions and recolonizations. However, it is unclear whether this pattern represents a local phenomenon, possibly driven by ecological edge effects, or a global phenomenon that took place across large geographical scales. To address this, we explored the palaeogenetic history of the collared lemming using a next-generation sequencing approach for pooled mitochondrial DNA amplicons. Sequences were obtained from over 300 fossil remains sampled across Eurasia and two sites in North America. We identified five mitochondrial lineages of D. torquatus that succeeded each other through time across Europe and western Russia, indicating a history of repeated population extinctions and recolonizations, most likely from eastern Russia, during the last 50 000 years. The observation of repeated extinctions across such a vast geographical range indicates large-scale changes in the steppe-tundra environment in western Eurasia during the last glaciation. All Holocene samples, from across the species' entire range, belonged to only one of the five mitochondrial lineages. Thus, extant D. torquatus populations only harbour a small fraction of the total genetic diversity that existed across different stages of the Late Pleistocene. In North American samples, haplotypes belonging to both D. groenlandicus and D. richardsoni were recovered from a Late Pleistocene site in south-western Canada. This suggests that D. groenlandicus had a more southern and D. richardsoni a more northern glacial distribution than previously thought. This study provides significant insights into the population dynamics of a small mammal at a large geographical scale and reveals a rather complex

Premenstrual Syndrome: Symptomatic and Diagnosed Prevalence, Dualistic Treatment Approach - A Cross-Sectional Study in Ukraine.

PubMed

Crow, Edith Meszaros; Jeannot, Emilien

2017-01-01

Diagnosing and treatment of premenstrual syndrome (PMS) still pose a challenge in the routine medical practice which usually focuses on single pharmacological therapy. Recent research suggests that the combination of treatments including complementary alternative medicine (CAM) therapies may be more beneficial. The objective of this study was to assess the percentage of diagnosed and nondiagnosed PMS/premenstrual dysphoric disorder (PMDD) based on the presence of adequate symptoms and to compare population using hormonal or pharmaceutical agents versus CAM therapies. This is a cross-sectional study targeting sample population of 160 females of potentially reproductive age done in Ukraine between May 2014 and April 2015. According to declared symptoms, 29% females versus 26% previously diagnosed by a medical professional qualify for "moderate/severe PMS," P > 0.05. In 30% persons using pharmacological agents, major side effects, namely, nausea, insomnia, headache was caused by painkillers, contraceptives, and antidepressants. Only 37.5% of study population has been using CAM therapy methods to deal with the symptoms of PMS. Of these, 22% have achieved moderate degree in relief of the symptoms long term. We have concluded that when dealing with the burden of PMS/PMDD, the affected treatment-seeking women should have choice and access to the variety of therapies within integrative medicine (both conventional and nonconventional).

Diagnosing Aspergers syndrome in the elderly: a series of case presentations.

PubMed

James, Ian Andrew; Mukaetova-Ladinska, Elizabeta; Reichelt, F Katharina; Briel, Ruth; Scully, Ann

2006-10-01

There are over 200,000 people in the UK diagnosed with Aspergers Syndrome (AS). Most of these are children and young adults, owing to the fact the disorder was established relatively recently. It can be argued, therefore, that there are many older adults who may have met the criteria for AS as children, but never received such a diagnosis due to the fact it had yet to be established. What happended to these people as they aged? This paper examines this issue in detail and presents five case studies of elderly individuals who the authors believe meet the criteria of AS. The work illustrates AS presentation in old age, the assessment problems and tools required to assess older people, and the implications of such formulations for clinical practice. Older patients with undiagnosed AS may currently be receiving inappropriate treatments. Greater awareness of AS in the older population would enable better management of such patients. Copyright (c) 2006 John Wiley & Sons, Ltd.

Nucleo-cytoplasmic shuttling of the endonuclease ankyrin repeats and LEM domain-containing protein 1 (Ankle1) is mediated by canonical nuclear export- and nuclear import signals.

PubMed

Zlopasa, Livija; Brachner, Andreas; Foisner, Roland

2016-06-01

Ankyrin repeats and LEM domain containing protein 1 (Ankle1) belongs to the LEM protein family, whose members share a chromatin-interacting LEM motif. Unlike most other LEM proteins, Ankle1 is not an integral protein of the inner nuclear membrane but shuttles between the nucleus and the cytoplasm. It contains a GIY-YIG-type nuclease domain, but its function is unknown. The mammalian genome encodes only one other GIY-YIG domain protein, termed Slx1. Slx1 has been described as a resolvase that processes Holliday junctions during homologous recombination-mediated DNA double strand break repair. Resolvase activity is regulated in a spatial and temporal manner during the cell cycle. We hypothesized that Ankle1 may have a similar function and its nucleo-cytoplasmic shuttling may contribute to the regulation of Ankle1 activity. Hence, we aimed at identifying the domains mediating Ankle1 shuttling and investigating whether cellular localization is affected during DNA damage response. Sequence analysis predicts the presence of two canonical nuclear import and export signals in Ankle1. Immunofluorescence microscopy of cells expressing wild-type and various mutated Ankle1-fusion proteins revealed a C-terminally located classical monopartite nuclear localization signal and a centrally located CRM1-dependent nuclear export signal that mediate nucleo-cytoplasmic shuttling of Ankle1. These sequences are also functional in heterologous proteins. The predominant localization of Ankle1 in the cytoplasm, however, does not change upon induction of several DNA damage response pathways throughout the cell cycle. We identified the domains mediating nuclear import and export of Ankle1. Ankle1's cellular localization was not affected following DNA damage.

Considerations in Diagnosing Usher's Syndrome: RP and Hearing Loss.

ERIC Educational Resources Information Center

Vernon, McCay

1982-01-01

The association of hearing loss and retinitis pigmentosa has been generally recognized as the genetic disorder of Usher's syndrome. The article reviews findings of this syndrome and suggests strategies for dealing with the clinical and psychological problems displayed by Usher's syndrome patients. (Author/SW)

Members of the emergency medical team may have difficulty diagnosing rapid atrial fibrillation in Wolff-Parkinson-White syndrome.

PubMed

Koźluk, Edward; Timler, Dariusz; Zyśko, Dorota; Piątkowska, Agnieszka; Grzebieniak, Tomasz; Gajek, Jacek; Gałązkowski, Robert; Fedorowski, Artur

2015-01-01

Atrial fibrillation (AF) in patients with Wolff-Parkinson-White (WPW) syndrome is potentially life-threatening as it may deteriorate into ventricular fibrillation. The aim of this study was to assess whether the emergency medical team members are able to diagnose AF with a rapid ventricular response due to the presence of atrioventricular bypass tract in WPW syndrome. The study group consisted of 316 participants attending a national congress of emergency medicine. A total of 196 questionnaires regarding recognition and management of cardiac arrhythmias were distributed. The assessed part presented a clinical scenario with a young hemodynamically stable man who had a 12-lead electrocardiogram performed in the past with signs of pre-excitation, and who presented to the emergency team with an irregular broad QRS-complex tachycardia. A total of 71 questionnaires were filled in. Only one responder recognized AF due to WPW syndrome, while 5 other responders recognized WPW syndrome and paroxysmal supraventricular tachycardia or broad QRS-complex tachycardia. About 20% of participants did not select any diagnosis, pointing out a method of treatment only. The most common diagnosis found in the survey was ventricular tachycardia/broad QRS-complex tachycardia marked by approximately a half of the participants. Nearly 18% of participants recognized WPW syndrome, whereas AF was recognized by less than 10% of participants. Members of emergency medical teams have limited skills for recognizing WPW syndrome with rapid AF, and ventricular tachycardia is the most frequent incorrect diagnosis.

Concurrent Van der Woude syndrome and Turner syndrome: A case report.

PubMed

Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

2017-01-01

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

Tinnitus and hyperacusis in autism spectrum disorders with emphasis on high functioning individuals diagnosed with Asperger's Syndrome.

PubMed

Danesh, Ali A; Lang, Dustin; Kaf, Wafaa; Andreassen, William D; Scott, Jack; Eshraghi, Adrien A

2015-10-01

To evaluate the prevalence of tinnitus and hyperacusis in individuals with Asperger's Syndrome (AS). A home-developed case-history survey and three item-weighted questionnaires: Tinnitus Reaction Questionnaire (TRQ), Tinnitus Handicap Inventory (THI), and the Hyperacusis Questionnaire (HQ) were employed. These tools categorize the subjective response to tinnitus and hyperacusis. The research tools were mailed to a mailing list of individuals with Asperger's Syndrome. A total of 55 subjects diagnosed with AS were included in the analysis (15.5% response rate). Sixty-nine percent of all respondents (38/55) reported hyperacusis with an average HQ score of 20.7. Furthermore, 35% (19/55) reported perceiving tinnitus with average scores of 27 for the TRQ and 23 for the THI. Thirty-one percent (17/55) reported both hyperacusis and tinnitus. The prevalence of hyperacusis in the AS respondents remained relatively constant across age groups. Hyperacusis and tinnitus are more prevalent in the ASD population subgroup diagnosed with AS under DSM-IV criteria than in the general public. Hyperacusis also appears to be more prevalent in the AS population than in the ASD population at large. Future research is warranted to provide insight into the possible correlation between tinnitus and hyperacusis symptoms and the abnormal social interactions observed in this group. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Deletion 22q13.3 syndrome.

PubMed

Phelan, Mary C

2008-05-27

The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is under-diagnosed and its true incidence remains unknown. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The diagnosis of deletion 22q13 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. Although the deletion can sometimes be detected by high resolution chromosome analysis, fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (CGH) is recommended for confirmation. Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like affect (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders, cerebral palsy). Genetic counseling is recommended and parental laboratory studies should be considered to identify cryptic rearrangements and detect parental mosaicism. Prenatal diagnosis should be offered for future pregnancies in those families with inherited rearrangements. Individuals with

40 CFR 81.63 - Metropolitan Fort Smith Interstate Air Quality Control Region.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 40 Protection of Environment 17 2010-07-01 2010-07-01 false Metropolitan Fort Smith Interstate Air... Air Quality Control Regions § 81.63 Metropolitan Fort Smith Interstate Air Quality Control Region. The Metropolitan Fort Smith Interstate Air Quality Control Region (Arkansas-Oklahoma) has been revised to consist...

Guillian-Barré syndrome--a case study.

PubMed

Toft, C E

2002-04-01

'Acute Guillian-Barré Syndrome is an acute inflammatory demyelinating disease of the peripheral nerves' (Pfister & Bullas 1990) which affects the normal transmission of electrical impulses along these nerves and consequently the function of the organs and tissues which they innervate (Springhouse 1998, Waldock 1995). This disorder can rapidly replace an individual's busy and active lifestyle with one of total dependence, often lasting months (Waldock 1995). It is important, therefore, that nurses understand the pathophysiology of the disease and its effect on the organs and tissue within the body, to enable them to provide a high standard of care for patients suffering from this condition. This discussion of Guillian-Barré Syndrome (GBS) will be in relation to patient (who shall be called Jane Smith for the purpose of this discussion) who was admitted to the Accident and Emergency (A&E) department and diagnosed with GBS (see Box 1 for patient history). Within this discussion GBS will be defined and its pathophysiology explained. The epidemiology and aetiology of the disease will also be highlighted. The majority of the discussion will focus on the physiological effects of GBS on the components of the peripheral nervous system and the appropriate assessment and treatment measures. Finally, the outcomes of the disease will be highlighted. The focus will be on the management of this condition within the A&E department.

Ferguson Smith type multiple keratoacanthomas and a keratoacanthoma centrifugum marginatum in a woman from Japan.

PubMed

Kato, N; Ito, K; Kimura, K; Shibata, M

2003-10-01

We report a case of multiple keratoacanthomas on the sun-exposed skin of a 37-year-old woman from Japan. She had experienced 4 similar episodes of evolution and involution of multiple keratoacanthomas during a period of 10 years since she was 27 years old. She was given the diagnosis of Ferguson Smith type keratoacanthoma. This is the seventh Japanese case of Ferguson Smith type keratoacanthoma described in detail in the literature. In addition, the patient was found to have an annular, coral reef-like eruption on the front of her neck, which was diagnosed as a keratoacanthoma centrifugum marginatum. A combination of different variants of keratoacanthoma in 1 patient is uncommon, and only 2 patients with the same combination of lesions, as that seen in our patient, have been reported. Our patient was treated by a relatively low dose (0.5 mg/kg body weight) of etretinate. Both variants of keratoacanthoma showed good response to the treatment. Effectiveness of etretinate for treating keratoacanthoma centrifugum marginatum has only been reported in a few cases. Our patient had no relapse during a period of 15 months after cessation of etretinate treatment.

The urge to move and breathe - the impact of obstructive sleep apnea syndrome treatment in patients with previously diagnosed, clinically significant restless legs syndrome.

PubMed

Silva, Cristiana; Peralta, Ana Rita; Bentes, Carla

2017-10-01

The association between restless legs syndrome (RLS) and obstructive sleep apnea syndrome (OSAS) has seldom been reported. There is one study reporting improvement of RLS symptoms severity in patients naive of treatment after initiation of continuous positive airway pressure (CPAP) for OSAS. The aim of this study was to evaluate the impact of the OSAS treatment in patients with previously diagnosed, clinically significant RLS in a usual clinical setting. This was a retrospective study of RLS patients from a sleep clinic with a concomitant or subsequent diagnosis of OSAS. All patients who started treatment for OSAS and had a follow-up of ≥3 months were selected. Exclusion criteria included noncompliance, absence of sufficient information on clinical records, and RLS improvement following treatment of secondary causes. The primary outcome variable was clinical status of RLS symptoms following OSA treatment. Other variables included demographics, RLS treatment and outcome, OSA diagnosis, treatment, compliance, outcome, and PSG characteristics. From a database of 97 RLS patients, 56 patients had both OSA and RLS. Of these patients, 28 met the criteria for the study. In all, 17 patients (60.9%) were female, with a mean age 60 years. A total of 16 patients (57.1%) were diagnosed with idiopathic RLS. OSAS was diagnosed, on average, 21 months after the RLS diagnosis. A total of 19 (70.4%) patients were overweight or obese, 26 (92.9%) reported snoring, and 10 (35.7%) witnessed apneas. A total of 16 patients (57.1%) had excessive daytime sleepiness and 23 (84.1%) had insomnia. The mean apnea-hypopnea index was 19. Patients were mostly treated with dopamine agonists (19 patients, 67.9%) for the RLS, and nine patients were treated with more than two drugs for RLS. A total of 20 patients (71.4%) had improvement of symptoms of RLS after therapy for OSAS, of whom nine stopped drug therapy and eight reduced the dose. In patients with clinically significant RLS, treatment of

SMITH FARM FROM EBEY ROAD, LOOKING NORTH. (At the right, ...

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

SMITH FARM FROM EBEY ROAD, LOOKING NORTH. (At the right, this image shows the addition added to the granary in 1998 in order to adapt it to a family home.) - Smith Farm, 399 Ebey Road, Coupeville, Island County, WA

Psychiatric diagnoses in patients with burning mouth syndrome and atypical odontalgia referred from psychiatric to dental facilities

PubMed Central

Takenoshita, Miho; Sato, Tomoko; Kato, Yuichi; Katagiri, Ayano; Yoshikawa, Tatsuya; Sato, Yusuke; Matsushima, Eisuke; Sasaki, Yoshiyuki; Toyofuku, Akira

2010-01-01

Background Burning mouth syndrome (BMS) and atypical odontalgia (AO) are two conditions involving chronic oral pain in the absence of any organic cause. Psychiatrically they can both be considered as “somatoform disorder”. From the dental point of view, however, the two disorders are quite distinct. BMS is a burning or stinging sensation in the mouth in association with a normal mucosa whereas AO is most frequently associated with a continuous pain in the teeth or in a tooth socket after extraction in the absence of any identifiable cause. Because of the absence of organic causes, BMS and AO are often regarded as psychogenic conditions, although the relationship between oral pain and psychologic factors is still unclear. Some studies have analyzed the psychiatric diagnoses of patients with chronic oral pain who have been referred from dental facilities to psychiatric facilities. No study to date has investigated patients referred from psychiatric facilities to dental facilities. Objective To analyze the psychiatric diagnoses of chronic oral pain patients, diagnosed with BMS and AO, and referred from psychiatric facilities to dental facilities. Study design Psychiatric diagnoses and disease conditions of BMS or AO were investigated in 162 patients by reviewing patients’ medical records and referral forms. Psychiatric diagnoses were categorized according to the International Statistical Classification of Disease and Related Health Problems, Tenth Revision. Results The proportion of F4 classification (neurotic, stress-related, and somatoform disorders) in AO patients was significantly higher than in BMS patients. BMS patients were more frequently given a F3 classification (mood/affective disorders). However, 50.8% of BMS patients and 33.3% of AO patients had no specific psychiatric diagnoses. Conclusion Although BMS and AO are both chronic pain disorders occurring in the absence of any organic cause, the psychiatric diagnoses of patients with BMS and AO differ

Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

PubMed

Gruchy, Nicolas; Blondeel, Eleonore; Le Meur, Nathalie; Joly-Hélas, Géraldine; Chambon, Pascal; Till, Marianne; Herbaux, Martine; Vigouroux-Castera, Adeline; Coussement, Aurélie; Lespinasse, James; Amblard, Florence; Jimenez Pocquet, Mélanie; Lebel-Roy, Camille; Carré-Pigeon, Frédérique; Flori, Elisabeth; Mugneret, Francine; Jaillard, Sylvie; Yardin, Catherine; Harbuz, Radu; Collonge-Rame, Marie-Agnès; Vago, Philippe; Valduga, Mylène; Leporrier, Nathalie; Vialard, François

2016-06-01

Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47, XXX and 47, XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis in 1997. This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded. Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY). The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

Author! Author! The Gallant Children's Author: Dick King-Smith

ERIC Educational Resources Information Center

Brodie, Carolyn S.

2005-01-01

This column presents a brief biography of Dick King-Smith. Born on March 27, 1922 and raised in Gloucestershire, England, he grew up with animals of all kinds. King-Smith was a farmer for twenty years and then became a school teacher. He was also a soldier during wartime, a traveling salesman, shoe factory worker, and television presenter. He…

Manipulating Smith-Purcell Emission with Babinet Metasurfaces

NASA Astrophysics Data System (ADS)

Wang, Zuojia; Yao, Kan; Chen, Min; Chen, Hongsheng; Liu, Yongmin

2016-10-01

Swift electrons moving closely parallel to a periodic grating produce far-field radiation of light, which is known as the Smith-Purcell effect. In this letter, we demonstrate that designer Babinet metasurfaces composed of C -aperture resonators offer a powerful control over the polarization state of the Smith-Purcell emission, which can hardly be achieved via traditional gratings. By coupling the intrinsically nonradiative energy bound at the source current sheet to the out-of-plane electric dipole and in-plane magnetic dipole of the C -aperture resonator, we are able to excite cross-polarized light thanks to the bianisotropic nature of the metasurface. The polarization direction of the emitted light is aligned with the orientation of the C -aperture resonator. Furthermore, the efficiency of the Smith-Purcell emission from Babinet metasurfaces is significantly increased by 84%, in comparison with the case of conventional gratings. These findings not only open up a new way to manipulate the electron-beam-induced emission in the near-field region but also promise compact, tunable, and efficient light sources and particle detectors.

Manipulating Smith-Purcell Emission with Babinet Metasurfaces.

PubMed

Wang, Zuojia; Yao, Kan; Chen, Min; Chen, Hongsheng; Liu, Yongmin

2016-10-07

Swift electrons moving closely parallel to a periodic grating produce far-field radiation of light, which is known as the Smith-Purcell effect. In this letter, we demonstrate that designer Babinet metasurfaces composed of C-aperture resonators offer a powerful control over the polarization state of the Smith-Purcell emission, which can hardly be achieved via traditional gratings. By coupling the intrinsically nonradiative energy bound at the source current sheet to the out-of-plane electric dipole and in-plane magnetic dipole of the C-aperture resonator, we are able to excite cross-polarized light thanks to the bianisotropic nature of the metasurface. The polarization direction of the emitted light is aligned with the orientation of the C-aperture resonator. Furthermore, the efficiency of the Smith-Purcell emission from Babinet metasurfaces is significantly increased by 84%, in comparison with the case of conventional gratings. These findings not only open up a new way to manipulate the electron-beam-induced emission in the near-field region but also promise compact, tunable, and efficient light sources and particle detectors.

H-type tracheoesophageal fistula with type III laryngotracheoesophageal cleft.

PubMed

Antao, Brice; Soccorso, Giampiero; Bateman, Neil; Shawis, Rang

2007-11-01

H-type tracheoesophageal fistula and laryngotracheoesophageal cleft are both rare anomalies. Laryngotracheoesophageal clefts are identified as a part of Opitz-Frias syndrome. We report a neonate with this combination of rare congenital anomalies. These associated malformations can have major implications in terms of resuscitation, diagnosis and surgical management, which are discussed.

Effect of Acarbose on Long-Term Prognosis in Acute Coronary Syndromes Patients with Newly Diagnosed Impaired Glucose Tolerance.

PubMed

Yun, Peng; Du, Ai-ming; Chen, Xue-jun; Liu, Jing-cheng; Xiao, Hu

2016-01-01

To investigate the effect of acarbose therapy on the long-term prognosis of patients with acute coronary syndromes (ACS) complicating newly diagnosed impaired glucose tolerance (IGT). 135 patients hospitalized for ACS who had been newly diagnosed with IGT were randomly assigned to acarbose group (150 mg/day, n = 67) or control group (no acarbose, n = 68). All cases in each group were given the same elementary treatment. Mean follow-up was 2.3 years. The incidence of major adverse cardiovascular event (MACE) and carotid intima-middle thickness (CIMT) were statistically analyzed. During the mean follow-up of 2.3 years, the risk of recurrent MACE in acarbose group was decreased significantly compared with that in control group (26.67% versus 46.88%, P < 0.05); at the same time, thickening of the CIMT was significantly slower than the control group ((1.28 ± 0.42) mm versus (1.51 ± 0.64) mm, P < 0.05). Acarbose can effectively reduce the risk of MACE in ACS patients with newly diagnosed IGT, simultaneously retarding the progression of carotid intima-media thickness.

The legendary Smiths and their Paris hospital.

PubMed

Prewitt, Taylor; Smith, John C; Bell, J P

2015-01-01

The Paris Hospital in Paris, Arkansas, provided high quality care during its existence from 1910 to 1971, offering a prepaid health care plan from 1920 to 1971. Three generations of Smith doctors were its nucleus, subsidizing the annual losses of the hospital and providing care to all, regardless of ability to pay. The hospital was a community unto itself for the nurses who lived, trained, and worked there. A unique family in the history of medicine in Arkansas, the Smith physicians were well trained, altruistic, compassionate, and conscientious, exemplifying the traditional values of twentieth century medical practice.

Munchausen syndrome in the emergency department mostly difficult, sometimes easy to diagnose: a case report and review of the literature

PubMed Central

2009-01-01

Munchausen syndrome is a rare psychiatric disorder in which patients inflict on themselves an illness or injury for the primary purpose of assuming the sick role. Because these patients can present with many different complaints and clinical symptoms, diagnosis is often made at a later stage of hospitalisation. In contrast we report a case of a 40-year old woman very easy to diagnose with Munchausen syndrome. This trained nurse presented at our emergency department (ED) complaining of abdominal pain. Interviewed by the medical trainee, she immediately confessed having put a knitting needle into her urethra four days earlier. She was not able to remove it anymore because it was beyond her reach. Abdominal X-ray confirmed the presence of the needle and a median laparotomy was performed to remove it. The diagnosis of Munchausen syndrome seemed immediately obvious in this case. PMID:19909508

Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

PubMed

Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

2014-01-01

Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

Behavioral Phenotype of Fragile X Syndrome in Adolescence and Adulthood

PubMed Central

Smith, Leann E.; Barker, Erin T.; Seltzer, Marsha Mailick; Abbeduto, Leonard; Greenberg, Jan S.

2012-01-01

The present study explored the behavioral profile of individuals with fragile X syndrome during adolescence and adulthood. Individuals with both fragile X syndrome and autism (n = 30) were compared with (a) individuals diagnosed with fragile X syndrome (but not autism; n = 106) and (b) individuals diagnosed with autism (but not fragile X syndrome; n = 135) on measures of autism symptoms, adaptive functioning, behavior problems, and psychological symptoms. Results indicated that individuals dually diagnosed with fragile X syndrome and autism displayed greater communication and social reciprocity impairments than individuals with fragile X syndrome only. Individuals in the dually diagnosed group also exhibited higher levels of repetitive and challenging behaviors than either comparison group, suggesting a unique profile of vulnerability for those diagnosed with both fragile X syndrome and autism. PMID:22264109

Pre-Menstrual Syndrome in Women with Down Syndrome

ERIC Educational Resources Information Center

Mason, Linda; Cunningham, Cliff

2009-01-01

Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

77 FR 58181 - Power Resources, Inc., Smith Ranch Highland Uranium Project; License Renewal Request, Opportunity...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-09-19

... NUCLEAR REGULATORY COMMISSION [Docket No. 04008964, NRC-2012-0214] Power Resources, Inc., Smith... available in ADAMS) is provided the first time that a document is referenced. The Smith Ranch Highland... (Smith Ranch Technical Report); Accession No. ML12234A539 (Smith Ranch Environmental Report). In addition...

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome)

PubMed Central

Kiran, N. K.; Tilak Raj, T. N.; Mukunda, K. S.; Rajashekar Reddy, V.

2012-01-01

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient. PMID:23633824

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome).

PubMed

Kiran, N K; Tilak Raj, T N; Mukunda, K S; Rajashekar Reddy, V

2012-10-01

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

Turner Syndrome: Other FAQs

MedlinePlus

... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

GW-501516 GlaxoSmithKline/Ligand.

PubMed

Pelton, Patricia

2006-04-01

GlaxoSmithKline and Ligand are developing GW-501516, a peroxisome proliferator-activator receptor-delta agonist for the potential treatment of dyslipidemia. Phase II clinical trials of this compound are ongoing.

[Sotos syndrome diagnosed by comparative genomic hybridisation].

PubMed

Saldarriaga, Wilmar; Molina-Barrera, Laura Camila; Ramírez-Cheyne, Julián

2016-01-01

Sotos Syndrome (SS) is a genetic disease with an autosomal dominant pattern caused by haplo-insufficiency of NSD1 gene secondary to point mutations or microdeletion of the 5q35 locus where the gene is located. It is a rare syndrome, occurring in 7 out of every 100,000 births. The objective of this report is to present the case of a 4 year-old patient with a global developmental delay, as well as specific physical findings suggesting a syndrome of genetic origin. Female patient, 4 years of age, thinning hair, triangular facie, long palpebral fissure, arched palate, prominent jaw, winged scapula and clinodactilia of the fifth finger both hands. The molecular test comparative genomic hybridisation test by microarray was subsequently performed, with the result showing 5q35.2 q35.3 region microdeletion of 2,082 MB, including the NSD1 gene. Finally, this article also proposes the performing of comparative genomic hybridisation as the first diagnostic option in cases where clinical findings are suggestive of SS. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

STS-82 Mission Specialist Steven L. Smith during TCDT

NASA Technical Reports Server (NTRS)

1997-01-01

STS-82 Mission Specialist Steven L. Smith adjusts the glove of his launch and entry space suit during a practice countdown at KSC. Smith and the other six STS-82 crew members are at KSC to participate in the Terminal Countdown Demonstration Test (TCDT), a dress rehearsal for launch. STS-82 will be the second Hubble Space Telescope servicing mission. Liftoff is targeted for February 11.

Return to Baseline: Some Comments on Smith's Reinterpretation of Seclusionary Timeout.

ERIC Educational Resources Information Center

Polsgrove, Lewis

1982-01-01

The author replies to an earlier contention of D. Smith (EC 133 830) that seclusionary timeout for behavior disordered children actually constitutes extinction rather than aversive control. The author cites methodological flaws in Smith's studies. (CL)

Lyme Disease Diagnosed by Alternative Methods: A Phenotype Similar to That of Chronic Fatigue Syndrome.

PubMed

Patrick, David M; Miller, Ruth R; Gardy, Jennifer L; Parker, Shoshana M; Morshed, Muhammad G; Steiner, Theodore S; Singer, Joel; Shojania, Kam; Tang, Patrick

2015-10-01

A subset of patients reporting a diagnosis of Lyme disease can be described as having alternatively diagnosed chronic Lyme syndrome (ADCLS), in which diagnosis is based on laboratory results from a nonreference Lyme specialty laboratory using in-house criteria. Patients with ADCLS report symptoms similar to those reported by patients with chronic fatigue syndrome (CFS). We performed a case-control study comparing patients with ADCLS and CFS to each other and to both healthy controls and controls with systemic lupus erythematosus (SLE). Subjects completed a history, physical exam, screening laboratory tests, 7 functional scales, reference serology for Lyme disease using Centers for Disease Control and Prevention criteria, reference serology for other tick-associated pathogens, and cytokine expression studies. The study enrolled 13 patients with ADCLS (12 of whom were diagnosed by 1 alternative US laboratory), 25 patients with CFS, 25 matched healthy controls, and 11 SLE controls. Baseline clinical data and functional scales indicate significant disability among ADCLS and CFS patients and many important differences between these groups and controls, but no significant differences between each other. No ADCLS patient was confirmed as having positive Lyme serology by reference laboratory testing, and there was no difference in distribution of positive serology for other tick-transmitted pathogens or cytokine expression across the groups. In British Columbia, a setting with low Lyme disease incidence, ADCLS patients have a similar phenotype to that of CFS patients. Disagreement between alternative and reference laboratory Lyme testing results in this setting is most likely explained by false-positive results from the alternative laboratory. © The Author 2015. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Dialogues with Marilyn Cochran-Smith

ERIC Educational Resources Information Center

Fiorentini, Dario; Crecci, Vanessa Moreira

2015-01-01

For more than 30 years, Dr. Marilyn Cochran-Smith has developed and directed research and contributed to publications about education and "practitioner research," especially about teachers' research and learning in inquiry communities. Her primary topics are inquiry communities, teacher research, teacher education for social…

Adam Smith on population.

PubMed

Spengler, J J

1970-11-01

Abstract Adam Smith dealt with questions of population mainly in his Wealth of Nations. His discussion falls roughly under five heads and reflects in considerable measure his image of the English economy. (1) A country's population capacity, given the average level of consumption, was conditioned by the stock of land, the skill with which it was cultivated, and the degree to which division of labour could be increased and thereby augment output for domestic use and sale in external markets. (2) Growth of population was essentially in response to growth of the demand for labour and served to increase division of labour. (3) The social mechanisms underlying elevation of the scale of living are touched upon, and in an optimistic spirit. (4) The distribution of a country's population responded to its progress in opulence, with the rate of this progress conditioned by the degree to which inappropriate (e.g. mercantilist) policies were avoided. (5) Smith dealt briefly with such matters as colonies, education, size of economy, environmental influences, and public policy, all of which he recognized as significant for the quantity and quality of a country's numbers.

Searching for Dark Matter Annihilation in the Smith High-Velocity Cloud

NASA Technical Reports Server (NTRS)

Drlica-Wagner, Alex; Gomez-Vargas, German A.; Hewitt, John W.; Linden, Tim; Tibaldo, Luigi

2014-01-01

Recent observations suggest that some high-velocity clouds may be confined by massive dark matter halos. In particular, the proximity and proposed dark matter content of the Smith Cloud make it a tempting target for the indirect detection of dark matter annihilation. We argue that the Smith Cloud may be a better target than some Milky Way dwarf spheroidal satellite galaxies and use gamma-ray observations from the Fermi Large Area Telescope to search for a dark matter annihilation signal. No significant gamma-ray excess is found coincident with the Smith Cloud, and we set strong limits on the dark matter annihilation cross section assuming a spatially extended dark matter profile consistent with dynamical modeling of the Smith Cloud. Notably, these limits exclude the canonical thermal relic cross section (approximately 3 x 10 (sup -26) cubic centimeters per second) for dark matter masses less than or approximately 30 gigaelectronvolts annihilating via the B/B- bar oscillation or tau/antitau channels for certain assumptions of the dark matter density profile; however, uncertainties in the dark matter content of the Smith Cloud may significantly weaken these constraints.

Searching For Dark Matter Annihilation In The Smith High-Velocity Cloud

DOE PAGES

Drlica-Wagner, Alex; Gómez-Vargas, Germán A.; Hewitt, John W.; ...

2014-06-27

Recent observations suggest that some high-velocity clouds may be confined by massive dark matter halos. In particular, the proximity and proposed dark matter content of the Smith Cloud make it a tempting target for the indirect detection of dark matter annihilation. We argue that the Smith Cloud may be a better target than some Milky Way dwarf spheroidal satellite galaxies and use γ-ray observations from the Fermi Large Area Telescope to search for a dark matter annihilation signal. No significant γ-ray excess is found coincident with the Smith Cloud, and we set strong limits on the dark matter annihilation crossmore » section assuming a spatially extended dark matter profile consistent with dynamical modeling of the Smith Cloud. Notably, these limits exclude the canonical thermal relic cross section (~3 × 10 -26 cm3 s -1) for dark matter masses . 30 GeV annihilating via the b¯b or τ⁺τ⁻ channels for certain assumptions of the dark matter density profile; however, uncertainties in the dark matter content of the Smith Cloud may significantly weaken these constraints.« less

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.

PubMed

Yeetong, Patra; Vilboux, Thierry; Ciccone, Carla; Boulier, Kristin; Schnur, Rhonda E; Gahl, William A; Huizing, Marjan; Laje, Gonzalo; Smith, Ann C M

2016-09-01

We report a 25-year-old female confirmed to have Smith-Magenis syndrome (SMS) due to a de novo RAI1 variant. Her past history is significant for developmental and intellectual delay, early and escalating maladaptive behaviors, and features consistent with significant sleep disturbance, the etiology of which was not confirmed for over two decades. The diagnosis of SMS was initially suspected in 1998 (at age 12 years), but that was 5 years before the initial report of RAI1 variants as causative of the SMS phenotype; cytogenetic fluorescence in situ hybridization studies failed to confirm an interstitial deletion of 17p11.2. Re-evaluation for suspected SMS was pursued with RAI1 sequencing analysis in response to urgent parental concerns of escalating behaviors and aggression with subsequent incarceration of the subject for assault of a health professional. Genetic analysis revealed a de novo RAI1 (NM_030665.3) nonsense variant, c.5536C>T; p.Q1846X. This case illustrates the importance of confirming the SMS diagnosis, which is associated with cognitive and functional impairment, as well as significant psychiatric co-morbidities and behavioral problems. The diagnosis was particularly relevant to the legal discussion and determination of her competence to stand trial. As other similar cases may exist, this report will help to increase awareness of the possibility of a very late diagnosis of SMS, with the need for re-evaluation of individuals suspected to have SMS who were initially evaluated prior to the identification of the RAI1 gene. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

EVA 1 - Grunsfeld and Smith during RSU changeout

NASA Image and Video Library

1999-12-22

STS-103 mission specialist John M. Grunsfeld (attached to a workstation on the RMS arm) and payload commander Steven L. Smith (free-floating) perform a changeout of the Rate Sensor Units (RSU) in one of the bays of -V3 plane of the Hubble Space Telescope (HST). This repair was performed during the first of three extravehicular activities (EVAs) of the mission. Grunsfeld is distinguished by having no marks on his EMU and Smith is distinguished by the red strip on the pants of his EMU.

Prevalence and determinants of metabolic syndrome among newly diagnosed type 2 diabetic subjects according to different criteria.

PubMed

Hossain, Sharmin; Fatema, Kaniz; Ahmed, Kazi R; Akter, Jesmin; Chowdhury, Hasina A; Shahjahan, Md; Acharyya, Amitava; Rahim, M A; Ali, Liaquat

2015-01-01

Metabolic syndrome (MS) is becoming a serious global public health problem. The prevalence of MS differs in different population by using different definitions. Present study aimed to find out the prevalence and determinants of MS among newly diagnosed type 2 diabetes (NDT2D) according to different criteria. This cross-sectional analytic study was conducted among 281 subjects selected purposively from the OPD of BIRDEM. Information on lifestyle factors and disease history were collected using a semi-structured questionnaire by face to face interview. The three definitions of MS used in this study are from the International Diabetes Federation (IDF), a modified version of the ATP III criteria for Asian populations (modified ATP III) and World Health Organization (WHO) criteria. Adjusted odds ratio and confidence limit were generated through logistic regression. The overall prevalence of metabolic syndrome among the study subjects according to modified ATPIII, WHO and IDF criteria were 79% (95% CI: 74.2-83.8), 81% (95% CI: 76.4-85.6) and 68% (95% CI: 62.6-73.5) respectively. The prevalence of metabolic syndrome among female were higher compared to males in all the criteria's. Female gender (OR=5.93), family history of diabetes (OR=1.92), overweight (OR=6.2), and obesity (OR=5.13) were found as important confounders associated with metabolic syndrome. The prevalence of the metabolic syndrome among NDT2D is considerably higher in our population which may indicate considerable risk of cardiovascular diseases in future. Female gender, family history of diabetes, overweight and obesity are important confounders of MS in this population. Copyright © 2014 Diabetes India. Published by Elsevier Ltd. All rights reserved.

Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity

ERIC Educational Resources Information Center

Oliver, Chris; Berg, Katy; Moss, Jo; Arron, Kate; Burbidge, Cheryl

2011-01-01

We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4-51). ASD symptomatology was heightened in…

A comparison of free weight squat to Smith machine squat using electromyography.

PubMed

Schwanbeck, Shane; Chilibeck, Philip D; Binsted, Gordon

2009-12-01

The purpose of this experiment was to determine whether free weight or Smith machine squats were optimal for activating the prime movers of the legs and the stabilizers of the legs and the trunk. Six healthy participants performed 1 set of 8 repetitions (using a weight they could lift 8 times, i.e., 8RM, or 8 repetition maximum) for each of the free weight squat and Smith machine squat in a randomized order with a minimum of 3 days between sessions, while electromyographic (EMG) activity of the tibialis anterior, gastrocnemius, vastus medialis, vastus lateralis, biceps femoris, lumbar erector spinae, and rectus abdominus were simultaneously measured. Electromyographic activity was significantly higher by 34, 26, and 49 in the gastrocnemius, biceps femoris, and vastus medialis, respectively, during the free weight squat compared to the Smith machine squat (p < 0.05). There were no significant differences between free weight and Smith machine squat for any of the other muscles; however, the EMG averaged over all muscles during the free weight squat was 43% higher when compared to the Smith machine squat (p < 0.05). The free weight squat may be more beneficial than the Smith machine squat for individuals who are looking to strengthen plantar flexors, knee flexors, and knee extensors.

Carcinoma of the lower uterine segment diagnosed with Lynch syndrome based on MSH6 germline mutation: A case report.

PubMed

Adachi, Masataka; Banno, Kouji; Masuda, Kenta; Yanokura, Megumi; Iijima, Moito; Takeda, Takashi; Kunitomi, Haruko; Kobayashi, Yusuke; Yamagami, Wataru; Hirasawa, Akira; Kameyama, Kaori; Sugano, Kokichi; Aoki, Daisuke

2017-02-01

Endometrial cancer in the lower uterine segment (LUS) is associated with Lynch syndrome with MLH1 or MSH2 germline mutation. Here, we report a case of carcinoma of the LUS diagnosed with Lynch syndrome based on MSH6 germline mutation in a 46-year-old woman with abnormal vaginal bleeding. She had had rectal cancer at age 39 with a family history of colon cancer (father, 75 years), pancreatic cancer (paternal grandmother, 74 years), and colon cancer (maternal grandmother, 85 years). Magnetic resonance imaging showed a tumor in the LUS. Endometrial biopsy revealed endometrioid adenocarcinoma G1. As her cancer history met the revised Bethesda criteria, we examined microsatellite instability and the result was negative, but loss of the MSH6 expression was detected by immunohistochemistry. Genetic testing revealed deleterious germline mutation of MSH6, which was compatible with Lynch syndrome. To our knowledge, this is the first case of endometrial carcinoma of the LUS with MSH6 germline mutation. © 2016 Japan Society of Obstetrics and Gynecology.

Genetics Home Reference: Opitz G/BBB syndrome

MedlinePlus

... of cells (cell migration). Midline-1 assists in recycling certain proteins that need to be reused instead ... decrease in midline-1 function, which prevents protein recycling. The resulting accumulation of proteins impairs microtubule function, ...

A 27-year-old woman diagnosed as polycystic ovary syndrome associated with Graves' disease.

PubMed

Jung, Jung Hwa; Hahm, Jong Ryeal; Jung, Tae Sik; Kim, Hee Jin; Kim, Ho Soo; Kim, Sungsu; Kim, Soo Kyoung; Lee, Sang Min; Kim, Deok Ryong; Choi, Won Jun; Seo, Yeong Mi; Chung, Soon Il

2011-01-01

Polycystic ovary syndrome (PCOS) and Graves' disease are the common causes of menstrual irregularity leading to infertility in women of child-bearing age. A 21-year-old female patient visited us with complaints of oligomenorrhea and hand tremor. She was diagnosed as having PCOS and hyperthyroid Graves' disease, simultaneously. She had low body weight (BMI: 16.4 kg/m(2)), mild hirsutism, and thyrotoxicosis. The patient was treated with anti-thyroid drug and beta-blocker for about two years, and then recovered to normal thyroid function. Although some studies have suggested a connection between PCOS and autoimmune thyroiditis, no study indicated that PCOS is associated with Graves' disease until now. Here, we describe the first case report of a lean woman with normal insulin sensitivity presenting PCOS and Graves' disease simultaneously.

Allocating provider resources to diagnose and treat restless legs syndrome: a cost-utility analysis.

PubMed

Padula, William V; Phelps, Charles E; Moran, Dane; Earley, Christopher

2017-10-01

Restless legs syndrome (RLS) is a neurological disorder that is frequently misdiagnosed, resulting in delays in proper treatment. The objective of this study was to analyze the cost-utility of training primary care providers (PCP) in early and accurate diagnosis of RLS. We used a Markov model to compare two strategies: one where PCPs received training to diagnose RLS (informed care) and one where PCPs did not receive training (standard care). This analysis was conducted from the US societal and health sector perspectives over one-year, five-year, and lifetime (50-year) horizons. Costs were adjusted to 2016 USD, utilities measured as quality-adjusted life-years (QALYs), and both measures were discounted annually at 3%. Cost, utilities, and probabilities for the model were obtained through a comprehensive review of literature. An incremental cost-effectiveness ratio (ICER) was calculated to interpret our findings at a willingness-to-pay threshold of $100,000/QALY. Univariate and multivariate analyses were conducted to test model uncertainty, in addition to calculating the expected value of perfect information. Providing training to PCPs to correctly diagnose RLS was cost-effective since it cost $2021 more and gained 0.44 QALYs per patient over the course of a lifetime, resulting in an ICER of $4593/QALY. The model was sensitive to the utility for treated and untreated RLS. The probabilistic sensitivity analysis revealed that at $100,000/QALY, informed care had a 65.5% probability of being cost-effective. A program to train PCPs to better diagnose RLS appears to be a cost-effective strategy for improving outcomes for RLS patients. Copyright © 2017 Elsevier B.V. All rights reserved.

Last Interview with W. Eugene Smith on the Photo Essay.

ERIC Educational Resources Information Center

Kobre, Ken

An interview with W. Eugene Smith, well-known photographer and photographic essayist, is presented in this paper. The introductory section of the paper contains a biographical sketch of Smith and a discussion of his photographic essays on a number of topics, including World War II scenes, life in a Spanish village, the work of a black midwife in…

A Helping Hand in the Frederick Community—Ross Smith | Poster

Cancer.gov

By day, Ross Smith is the compliance and security officer for Data Management Services, Inc., assigned to the National Cancer Institute (NCI) at Frederick. His role is to ensure the secure operation of in-house computer systems, servers, and network connections. But in his spare time, Smith is also a volunteer firefighter and emergency medical technician (EMT).

Father Knows Best: Using Adam Smith to Teach Transactions Costs

ERIC Educational Resources Information Center

Dupont, Brandon

2014-01-01

Adam Smith's moral philosophy can be used to introduce economics students to the important idea of transactions costs. The author provides a brief background in this article to Smith's moral philosophy and connects it to the costs of transacting in a way that fits easily into the standard principles of microeconomics classroom. By doing…

[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.

Conundrums in neurology: diagnosing serotonin syndrome - a meta-analysis of cases.

PubMed

Werneke, Ursula; Jamshidi, Fariba; Taylor, David M; Ott, Michael

2016-07-12

Serotonin syndrome is a toxic state, caused by serotonin (5HT) excess in the central nervous system. Serotonin syndrome's main feature is neuro-muscular hyperexcitability, which in many cases is mild but in some cases can become life-threatening. The diagnosis of serotonin syndrome remains challenging since it can only be made on clinical grounds. Three diagnostic criteria systems, Sternbach, Radomski and Hunter classifications, are available. Here we test the validity of four assumptions that have become widely accepted: (1) The Hunter classification performs clinically better than the Sternbach and Radomski criteria; (2) in contrast to neuroleptic malignant syndrome, the onset of serotonin syndrome is usually rapid; (3) hyperthermia is a hallmark of severe serotonin syndrome; and (4) serotonin syndrome can readily be distinguished from neuroleptic malignant syndrome on clinical grounds and on the basis of medication history. Systematic review and meta-analysis of all cases of serotonin syndrome and toxicity published between 2004 and 2014, using PubMed and Web of Science. Two of the four assumptions (1 and 2) are based on only one published study each and have not been independently validated. There is little agreement between current criteria systems for the diagnosis of serotonin syndrome. Although frequently thought to be the gold standard for the diagnosis of the serotonin syndrome, the Hunter criteria did not perform better than the Sternbach and Radomski criteria. Not all cases seem to be of rapid onset and only relatively few cases may present with hyperthermia. The 0 differential diagnosis between serotonin syndrome and neuroleptic malignant syndrome is not always clear-cut. Our findings challenge four commonly made assumptions about serotonin syndrome. We propose our meta-analysis of cases (MAC) method as a new way to systematically pool and interpret anecdotal but important clinical information concerning uncommon or emergent phenomena that cannot be

Effect of Acarbose on Long-Term Prognosis in Acute Coronary Syndromes Patients with Newly Diagnosed Impaired Glucose Tolerance

PubMed Central

Yun, Peng; Du, Ai-ming; Chen, Xue-jun; Liu, Jing-cheng; Xiao, Hu

2016-01-01

Objective. To investigate the effect of acarbose therapy on the long-term prognosis of patients with acute coronary syndromes (ACS) complicating newly diagnosed impaired glucose tolerance (IGT). Methodology. 135 patients hospitalized for ACS who had been newly diagnosed with IGT were randomly assigned to acarbose group (150 mg/day, n = 67) or control group (no acarbose, n = 68). All cases in each group were given the same elementary treatment. Mean follow-up was 2.3 years. The incidence of major adverse cardiovascular event (MACE) and carotid intima-middle thickness (CIMT) were statistically analyzed. Results. During the mean follow-up of 2.3 years, the risk of recurrent MACE in acarbose group was decreased significantly compared with that in control group (26.67% versus 46.88%, P < 0.05); at the same time, thickening of the CIMT was significantly slower than the control group ((1.28 ± 0.42) mm versus (1.51 ± 0.64) mm, P < 0.05). Conclusions. Acarbose can effectively reduce the risk of MACE in ACS patients with newly diagnosed IGT, simultaneously retarding the progression of carotid intima-media thickness. PMID:26770983

Fluency disorders in genetic syndromes.

PubMed

Van Borsel, John; Tetnowski, John A

2007-01-01

The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of these syndromes indicated clients diagnosed with these syndromes do show evidence of nonfluency patterns, but not all would be considered stuttering. Many of the syndromes are marked by degrees of mental retardation that probably contribute to a higher than average prevalence of stuttering, as well as a higher than average prevalence of other fluency disorders (when compared to the population at large). An in-depth analysis of the available data indicates that some of these genetic syndromes show patterns of stuttering that may be indicative of only that syndrome (or similar syndromes) that can be differentially diagnosed from developmental stuttering. Among these patterns are the word-final nonfluencies noted in Prader-Willi syndrome; the presence of stuttering in the absence of secondary behaviors noted in Prader-Willi syndrome and; the presence of palilalia, word-final and word-medial nonfluencies, and word-medial and word-final nonfluencies in Tourette syndrome. Implications for future research are discussed in light of these findings. The reader will be able to: (1) describe the various different genetic syndromes that are associated with fluency disorders; (2) describe the types of nonfluencies that are associated with the major types of genetic syndromes that have fluency disorders; (3) describe the behaviors that may assist in differentially diagnosing different types of speech characteristics associated with various genetic syndromes.

Two Rival Conceptions of Vocational Education: Adam Smith and Friedrich List.

ERIC Educational Resources Information Center

Winch, Christopher

1998-01-01

Examines and discusses two views of political economy: (1) the classical model of Adam Smith; and (2) the social capitalist model associated with Friedrich List. Explores two varieties of vocational education and training that emerge from a comparison of Smith's and List's ideas. (CMK)

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

PubMed

Neuhaus, Christine; Eisenberger, Tobias; Decker, Christian; Nagl, Sandra; Blank, Cornelia; Pfister, Markus; Kennerknecht, Ingo; Müller-Hofstede, Cornelie; Charbel Issa, Peter; Heller, Raoul; Beck, Bodo; Rüther, Klaus; Mitter, Diana; Rohrschneider, Klaus; Steinhauer, Ute; Korbmacher, Heike M; Huhle, Dagmar; Elsayed, Solaf M; Taha, Hesham M; Baig, Shahid M; Stöhr, Heidi; Preising, Markus; Markus, Susanne; Moeller, Fabian; Lorenz, Birgit; Nagel-Wolfrum, Kerstin; Khan, Arif O; Bolz, Hanno J

2017-09-01

Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome. A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively. Quantitative readout reliably detected CNVs (confirmed by MLPA or array-CGH), qualifying targeted NGS as one tool for detecting point mutations and CNVs. CNVs accounted for 10% of identified USH2A alleles, often in trans to seemingly monoallelic point mutations. We demonstrate PTC124-induced read-through of the common p.Trp3955* nonsense mutation (13% of detected USH2A alleles), a potential therapy target. Usher gene mutations were found in most patients with atypical Usher syndrome, but the diagnosis was adjusted in case of double homozygosity for mutations in OTOA and NR2E3 , genes implicated in isolated deafness and RP. Two patients with additional enamel dysplasia had biallelic PEX26 mutations, for the first time linking this gene to Heimler syndrome. Targeted NGS not restricted to Usher genes proved beneficial in uncovering conditions mimicking Usher syndrome.

Rediscovering Major N. Clark Smith.

ERIC Educational Resources Information Center

Buckner, Reginald T.

1985-01-01

Historians of American music education have yet to recognize a Black music educator as important and worthy of observation. This article discusses a candidate--Major Nathaniel Clark Smith, a little-known Black music educator, composer of more than a hundred works, businessman, humanitarian, and teacher of numerous big-name jazz musicians. (RM)

A Cabinet of Mathematical Curiosities at Teachers College: David Eugene Smith's Collection

ERIC Educational Resources Information Center

Murray, Diane R.

2012-01-01

This dissertation is a history of David Eugene Smith's collection of historical books, manuscripts, portraits, and instruments related to mathematics. The study analyzes surviving documents, images, objects, college announcements and catalogs, and secondary sources related to Smith's collection. David Eugene Smith (1860-1944) travelled…

SMITH: a LIMS for handling next-generation sequencing workflows.

PubMed

Venco, Francesco; Vaskin, Yuriy; Ceol, Arnaud; Muller, Heiko

2014-01-01

Life-science laboratories make increasing use of Next Generation Sequencing (NGS) for studying bio-macromolecules and their interactions. Array-based methods for measuring gene expression or protein-DNA interactions are being replaced by RNA-Seq and ChIP-Seq. Sequencing is generally performed by specialized facilities that have to keep track of sequencing requests, trace samples, ensure quality and make data available according to predefined privileges. An integrated tool helps to troubleshoot problems, to maintain a high quality standard, to reduce time and costs. Commercial and non-commercial tools called LIMS (Laboratory Information Management Systems) are available for this purpose. However, they often come at prohibitive cost and/or lack the flexibility and scalability needed to adjust seamlessly to the frequently changing protocols employed. In order to manage the flow of sequencing data produced at the Genomic Unit of the Italian Institute of Technology (IIT), we developed SMITH (Sequencing Machine Information Tracking and Handling). SMITH is a web application with a MySQL server at the backend. Wet-lab scientists of the Centre for Genomic Science and database experts from the Politecnico of Milan in the context of a Genomic Data Model Project developed SMITH. The data base schema stores all the information of an NGS experiment, including the descriptions of all protocols and algorithms used in the process. Notably, an attribute-value table allows associating an unconstrained textual description to each sample and all the data produced afterwards. This method permits the creation of metadata that can be used to search the database for specific files as well as for statistical analyses. SMITH runs automatically and limits direct human interaction mainly to administrative tasks. SMITH data-delivery procedures were standardized making it easier for biologists and analysts to navigate the data. Automation also helps saving time. The workflows are available

SMITH: a LIMS for handling next-generation sequencing workflows

PubMed Central

2014-01-01

Background Life-science laboratories make increasing use of Next Generation Sequencing (NGS) for studying bio-macromolecules and their interactions. Array-based methods for measuring gene expression or protein-DNA interactions are being replaced by RNA-Seq and ChIP-Seq. Sequencing is generally performed by specialized facilities that have to keep track of sequencing requests, trace samples, ensure quality and make data available according to predefined privileges. An integrated tool helps to troubleshoot problems, to maintain a high quality standard, to reduce time and costs. Commercial and non-commercial tools called LIMS (Laboratory Information Management Systems) are available for this purpose. However, they often come at prohibitive cost and/or lack the flexibility and scalability needed to adjust seamlessly to the frequently changing protocols employed. In order to manage the flow of sequencing data produced at the Genomic Unit of the Italian Institute of Technology (IIT), we developed SMITH (Sequencing Machine Information Tracking and Handling). Methods SMITH is a web application with a MySQL server at the backend. Wet-lab scientists of the Centre for Genomic Science and database experts from the Politecnico of Milan in the context of a Genomic Data Model Project developed SMITH. The data base schema stores all the information of an NGS experiment, including the descriptions of all protocols and algorithms used in the process. Notably, an attribute-value table allows associating an unconstrained textual description to each sample and all the data produced afterwards. This method permits the creation of metadata that can be used to search the database for specific files as well as for statistical analyses. Results SMITH runs automatically and limits direct human interaction mainly to administrative tasks. SMITH data-delivery procedures were standardized making it easier for biologists and analysts to navigate the data. Automation also helps saving time. The

77 FR 64411 - Safety Zone; Cooper T. Smith Fireworks Event; Mobile River; Mobile, AL

Federal Register 2010, 2011, 2012, 2013, 2014

2012-10-22

... 1625-AA00 Safety Zone; Cooper T. Smith Fireworks Event; Mobile River; Mobile, AL AGENCY: Coast Guard.... Smith Fireworks Event. Entry into, transiting or anchoring in this zone is prohibited to all vessels... safety hazards associated with a fireworks display. B. Basis and Purpose Cooper T. Smith Corp. has hired...

Green Bank Telescope OH Observations of Smith's Cloud: Evidence Of A Lack Of Chemistry

NASA Astrophysics Data System (ADS)

Minter, Anthony

2017-03-01

Smith's Cloud is a large few × 106 Solar Mass cloud which will impact the Milk Way disk in about 35 Million Years (Lockman et al., 2008). Green Bank Telescope OH observations indicate that there are no molecules present in Smith's Cloud, and thus there is no active ongoing chemistry in Smith's Cloud.

Ciliates learn to diagnose and correct classical error syndromes in mating strategies

PubMed Central

Clark, Kevin B.

2013-01-01

Preconjugal ciliates learn classical repetition error-correction codes to safeguard mating messages and replies from corruption by “rivals” and local ambient noise. Because individual cells behave as memory channels with Szilárd engine attributes, these coding schemes also might be used to limit, diagnose, and correct mating-signal errors due to noisy intracellular information processing. The present study, therefore, assessed whether heterotrich ciliates effect fault-tolerant signal planning and execution by modifying engine performance, and consequently entropy content of codes, during mock cell–cell communication. Socially meaningful serial vibrations emitted from an ambiguous artificial source initiated ciliate behavioral signaling performances known to advertise mating fitness with varying courtship strategies. Microbes, employing calcium-dependent Hebbian-like decision making, learned to diagnose then correct error syndromes by recursively matching Boltzmann entropies between signal planning and execution stages via “power” or “refrigeration” cycles. All eight serial contraction and reversal strategies incurred errors in entropy magnitude by the execution stage of processing. Absolute errors, however, subtended expected threshold values for single bit-flip errors in three-bit replies, indicating coding schemes protected information content throughout signal production. Ciliate preparedness for vibrations selectively and significantly affected the magnitude and valence of Szilárd engine performance during modal and non-modal strategy corrective cycles. But entropy fidelity for all replies mainly improved across learning trials as refinements in engine efficiency. Fidelity neared maximum levels for only modal signals coded in resilient three-bit repetition error-correction sequences. Together, these findings demonstrate microbes can elevate survival/reproductive success by learning to implement classical fault-tolerant information processing in

Arthur Smith, Local Baptist Pastor.

ERIC Educational Resources Information Center

Heaton, Moss, Ed.

1985-01-01

Written and published by the students at Gary High School this volume has three articles dealing with East Texas life. The first "Arthur Smith" (David Hancock and others) is an account of growing up in Marian County, Texas is described by the local Baptist minister. The pastor begins with the year of his birth and gives detailed…

Acute lymphoblastic leukemia in a 2-year-old girl whose mother was previously diagnosed with antiphospholipid syndrome: a case report.

PubMed

Castro-Jiménez, Miguel Ángel; Cortés-Sánchez, Carlos Efraín; Rueda-Arenas, Ernesto; Tibaduiza-Buitrago, Lucy Adela

2015-04-15

The role of maternal exposures and conditions in the origin of childhood cancer has been a subject of growing interest, but current evidence is inconclusive. We present a case detected in a multicenter case-control study evaluating the association between parental risk factors and childhood acute lymphoblastic leukemia (ALL). The patient is a Colombian girl who was diagnosed with ALL-L1 when she was 2 years old. Her mother had been diagnosed with antiphospholipid syndrome before pregnancy and had also been treated with subcutaneous injections of heparin. Other potentially relevant maternal and patient exposures are also reported in this paper. We hypothesize that the maternal autoimmune disease could be a contributor in the causality network of the daughter's leukemia. However, the role of other exposures cannot be excluded.

Portrait of Waldo Smith

NASA Astrophysics Data System (ADS)

Spilhaus, Fred

2009-01-01

In 1944, Waldo Smith was looking for a place where he could make a difference. He had taught in universities in the United States and Turkey, and he had worked as an engineer in the field of hydrology in the United States. Somehow, a chance meeting with John Adam Fleming, AGU's long-time General Secretary, led to Waldo's becoming the first executive officer employed by the Union. That, in turn, brought him the opportunity to make a difference.

Measuring short electron bunch lengths using coherent smith-purcell radiation

DOEpatents

Nguyen, Dinh C.

1999-01-01

A method is provided for directly determining the length of sub-picosecond electron bunches. A metallic grating is formed with a groove spacing greater than a length expected for the electron bunches. The electron bunches are passed over the metallic grating to generate coherent and incoherent Smith-Purcell radiation. The angular distribution of the coherent Smith-Purcell radiation is then mapped to directly deduce the length of the electron bunches.

Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

PubMed

Tokita, Mari J; Sybert, Virginia P

2016-05-01

High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X/46,XX mosaic Turner syndrome in order to provide a better basis for genetic counseling at the time of intrauterine diagnosis. Phenotype data for twenty-five patients with prenatally diagnosed 45,X/46,XX mosaicism were collected by retrospective chart review and, when possible, semi-structured telephone interview. Existing data from a cohort of 58 patients with postnatally diagnosed 45,X/46,XX mosaicism were used for comparison. Relative to those diagnosed postnatally, prenatal patients were more likely to have normal growth and normal secondary sexual development, less likely to manifest distinctive Turner syndrome features such as nuchal webbing and edema, and had significantly fewer renal defects. These differences underscore the need for a nuanced approach to prenatal counseling in cases of 45,X/46,XX mosaicism. © 2016 Wiley Periodicals, Inc.

Diagnostic utility of F waves in clinically diagnosed patients of carpal tunnel syndrome.

PubMed

Joshi, Anand G; Gargate, Ashwini R

2013-01-01

Sensory nerve conduction velocity (SNCV) of median nerve measured across the carpal tunnel, difference between distal sensory latencies (DSLs) of median and ulnar nerves and difference between distal motor latencies (DMLs) of median and ulnar nerves are commonly used nerve conduction parameters for diagnosis of carpal tunnel syndrome (CTS). These are having high degree of sensitivity and specificity. Study of median nerve F-wave minimal latency (FWML) and difference between F-wave minimal latencies (FWMLs) of median and ulnar nerves have also been reported to be useful parameters for diagnosis of CTS. However, there is controversy regarding superiority of F-wave study for diagnosis of CTS. So the aim of present study was to compare sensitivity and specificity of median FWML and difference between FWMLs of median and ulnar nerves with that of above mentioned electrophysiological parameters and to find out which parameters are having more sensitivity and specificity, for early diagnosis of CTS. Median and ulnar nerves sensory and motor conduction, median and ulnar nerves F-wave studies were carried out bilaterally in 125 clinically diagnosed patients of carpal tunnel syndrome. These parameters were also studied in 45 age matched controls. Difference between DSLs of median and ulnar nerves, median SNCV and difference between DMLs of median and ulnar nerves were having highest sensitivity and specificity while median FWML and difference between FWMLs of median and ulnar nerves was having lowest sensitivity and specificity for diagnosis of CTS. So in conclusion F-wave study is not superior parameter for diagnosis of CTS.

Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome.

PubMed

Dykens, Elisabeth M; Roof, Elizabeth; Hunt-Hawkins, Hailee; Dankner, Nathan; Lee, Evon Batey; Shivers, Carolyn M; Daniell, Christopher; Kim, Soo-Jeong

2017-01-01

A small percentage of people with autism spectrum disorders (ASD) have alterations in chromosome 15q11.2-q3, the critical region for Prader-Willi syndrome (PWS). Data are limited, however, on the rates and characteristics of ASD in PWS. Previous estimates of ASD in PWS (25 to 41%) are questionable as they are based solely on autism screeners given to parents. Inaccurate diagnoses of ASD in PWS can mislead intervention and future research. One hundred forty-six children and youth with PWS aged 4 to 21 years ( M  = 11) were assessed with the Autism Diagnostic Observation Schedule-2 (ADOS-2). An expert clinical team-made best-estimate ASD diagnoses based on ADOS-2 videotapes, calibrated severity scores, and children's developmental histories and indices of current functioning. Children were also administered the Kaufman Brief Intelligence Test-2, and parents completed the Repetitive Behavior Scale-Revised and Vineland Adaptive Behavior Scales. Scores were compared across children with PWS + ASD versus PWS only. The performance of an ASD screener, the Social Communication Questionnaire (SCQ) and the ADOS-2 were evaluated in relation to best-estimate diagnoses. Best-estimate diagnoses of ASD were made in 18 children, or 12.3% of the sample, and the majority of them had the maternal uniparental disomy (mUPD) PWS genetic subtype. Compared to the PWS-only group, children with PWS + ASD had lower verbal and composite IQ's and adaptive daily living and socialization skills, as well as elevated stereotypies and restricted interests. Regardless of ASD status, compulsivity and insistence on sameness in routines or events were seen in 76-100% of children and were robustly correlated with lower adaptive functioning. The SCQ yielded a 29-49% chance that screen-positive cases will indeed have ASD. The ADOS-2 had higher sensitivity, specificity and predictive values. Communication problems were seen in children who were ADOS-2 positive but deemed not to have ASD by the clinical

Meet EPA Scientist Betsy Smith, Ph.D.

EPA Pesticide Factsheets

Dr. Betsy Smith is Associate National Program Director for Systems Analysis within the Sustainable and Healthy Communities Research Program. Her work has focused on new methods to analyze spatial data on multiple problems.

75 FR 41922 - Notice of Intent To Rule on Request To Release Airport Property at Fort Smith Regional Airport...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-07-19

... To Release Airport Property at Fort Smith Regional Airport, Fort Smith, AR AGENCY: Federal Aviation... rule and invites public comment on the release of land at Fort Smith Regional Airport under the.... John Parker, Airport Director, Fort Smith Regional Airport, at the following address: Fort Smith...

Measuring short electron bunch lengths using coherent Smith-Purcell radiation

DOEpatents

Nguyen, D.C.

1999-03-30

A method is provided for directly determining the length of sub-picosecond electron bunches. A metallic grating is formed with a groove spacing greater than a length expected for the electron bunches. The electron bunches are passed over the metallic grating to generate coherent and incoherent Smith-Purcell radiation. The angular distribution of the coherent Smith-Purcell radiation is then mapped to directly deduce the length of the electron bunches. 8 figs.

Psychiatric aspects of Cushing's syndrome.

PubMed

Kelly, W F

1996-07-01

Patients with Cushing's syndrome were studied (n = 209, 78% females). Control patients had pituitary adenomas secreting growth hormone or prolactin. Age at diagnosis of Cushing's syndrome was 8-74 (mean 39) years. Duration of symptoms was 0.2-9 (median 2.0) years. Adverse life events within the 2 years preceding the onset of Cushing's syndrome were not significantly commoner than in controls. Depressive illnesses were associated with the presence of adverse life events (p < 0.001). Depressive illness was more common in females (p < 0.01). There were no significant differences in the severity of depression in the different types of Cushing's syndrome. Pathological anxiety had been diagnosed in 26 patients (12%), mania or hypomania in six patients (3%) and confusion in three patients (1%). Psychotic illness had been diagnosed in 16 patients (8%) and was more common in adrenal carcinomas (p < 0.01). Significant psychiatric illness, usually depressive, preceded the onset of all symptoms and signs of Cushing's syndrome in 25 patients (12%); 23 of these developed pituitary Cushing's disease, and two adrenal adenomas. When Cushing's syndrome was diagnosed, significant psychiatric illness, usually depression, was present or had been a feature of Cushing's syndrome in 120 (57%) patients.

Chinese restaurant syndrome

MedlinePlus

Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

The evolutionary radiation of Arvicolinae rodents (voles and lemmings): relative contribution of nuclear and mitochondrial DNA phylogenies

PubMed Central

Galewski, Thomas; Tilak, Marie-ka; Sanchez, Sophie; Chevret, Pascale; Paradis, Emmanuel; Douzery, Emmanuel JP

2006-01-01

Background Mitochondrial and nuclear genes have generally been employed for different purposes in molecular systematics, the former to resolve relationships within recently evolved groups and the latter to investigate phylogenies at a deeper level. In the case of rapid and recent evolutionary radiations, mitochondrial genes like cytochrome b (CYB) are often inefficient for resolving phylogenetic relationships. One of the best examples is illustrated by Arvicolinae rodents (Rodentia; Muridae), the most impressive mammalian radiation of the Northern Hemisphere which produced voles, lemmings and muskrats. Here, we compare the relative contribution of a nuclear marker – the exon 10 of the growth hormone receptor (GHR) gene – to the one of the mitochondrial CYB for inferring phylogenetic relationships among the major lineages of arvicoline rodents. Results The analysis of GHR sequences improves the overall resolution of the Arvicolinae phylogeny. Our results show that the Caucasian long-clawed vole (Prometheomys schaposnikowi) is one of the basalmost arvicolines, and confirm that true lemmings (Lemmus) and collared lemmings (Dicrostonyx) are not closely related as suggested by morphology. Red-backed voles (Myodini) are found as the sister-group of a clade encompassing water vole (Arvicola), snow vole (Chionomys), and meadow voles (Microtus and allies). Within the latter, no support is recovered for the generic recognition of Blanfordimys, Lasiopodomys, Neodon, and Phaiomys as suggested by morphology. Comparisons of parameter estimates for branch lengths, base composition, among sites rate heterogeneity, and GTR relative substitution rates indicate that CYB sequences consistently exhibit more heterogeneity among codon positions than GHR. By analyzing the contribution of each codon position to node resolution, we show that the apparent higher efficiency of GHR is due to their third positions. Although we focus on speciation events spanning the last 10 million years

Behavioral Phenotype of Fragile X Syndrome in Adolescence and Adulthood

ERIC Educational Resources Information Center

Smith, Leann E.; Barker, Erin T.; Seltzer, Marsha Mailick; Abbeduto, Leonard; Greenberg, Jan S.

2012-01-01

The present study explored the behavioral profile of individuals with fragile X syndrome during adolescence and adulthood. Individuals with both fragile X syndrome and autism (n = 30) were compared with (a) individuals diagnosed with fragile X syndrome (but not autism; n = 106) and (b) individuals diagnosed with autism (but not fragile X syndrome;…

RAPID-L Highly Automated Fast Reactor Concept Without Any Control Rods (2) Critical experiment of lithium-6 used in LEM and LIM

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

Tsunoda, Hirokazu; Sato, Osamu; Okajima, Shigeaki

2002-07-01

In order to achieve fully automated reactor operation of RAPID-L reactor, innovative reactivity control systems LEM, LIM, and LRM are equipped with lithium-6 as a liquid poison. Because lithium-6 has not been used as a neutron absorbing material of conventional fast reactors, measurements of the reactivity worth of Lithium-6 were performed at the Fast Critical Assembly (FCA) of Japan Atomic Energy Research Institute (JAERI). The FCA core was composed of highly enriched uranium and stainless steel samples so as to simulate the core spectrum of RAPID-L. The samples of 95% enriched lithium-6 were inserted into the core parallel to themore » core axis for the measurement of the reactivity worth at each position. It was found that the measured reactivity worth in the core region well agreed with calculated value by the method for the core designs of RAPID-L. Bias factors for the core design method were obtained by comparing between experimental and calculated results. The factors were used to determine the number of LEM and LIM equipped in the core to achieve fully automated operation of RAPID-L. (authors)« less

Difficulties in diagnosing Marfan syndrome using current FBN1 databases.

PubMed

Groth, Kristian A; Gaustadnes, Mette; Thorsen, Kasper; Østergaard, John R; Jensen, Uffe Birk; Gravholt, Claus H; Andersen, Niels H

2016-01-01

The diagnostic criteria of Marfan syndrome (MFS) highlight the importance of a FBN1 mutation test in diagnosing MFS. As genetic sequencing becomes better, cheaper, and more accessible, the expected increase in the number of genetic tests will become evident, resulting in numerous genetic variants that need to be evaluated for disease-causing effects based on database information. The aim of this study was to evaluate genetic variants in four databases and review the relevant literature. We assessed background data on 23 common variants registered in ESP6500 and classified as causing MFS in the Human Gene Mutation Database (HGMD). We evaluated data in four variant databases (HGMD, UMD-FBN1, ClinVar, and UniProt) according to the diagnostic criteria for MFS and compared the results with the classification of each variant in the four databases. None of the 23 variants was clearly associated with MFS, even though all classifications in the databases stated otherwise. A genetic diagnosis of MFS cannot reliably be based on current variant databases because they contain incorrectly interpreted conclusions on variants. Variants must be evaluated by time-consuming review of the background material in the databases and by combining these data with expert knowledge on MFS. This is a major problem because we expect even more genetic test results in the near future as a result of the reduced cost and process time for next-generation sequencing.Genet Med 18 1, 98-102.

Lisa Smith in MSFC's Laboratory Training Complex

NASA Image and Video Library

2015-02-11

LISA SMITH, THE TRAINING TEAM LEAD IN MARSHALL'S MISSION OPERATIONS LAB, EXAMINES THE DRAWERS IN THE GLACIER MOCK-UP, A TRAINING VERSION OF A FREEZER ON THE INTERNATIONAL SPACE STATION INSTALLED IN THE MARSHALL CENTER'S LABORATORY TRAINING COMPLEX

[Neonatal Pearson syndrome. two case studies].

PubMed

Collin-Ducasse, H; Maillotte, A-M; Monpoux, F; Boutté, P; Ferrero-Vacher, C; Paquis, V

2010-01-01

Among the etiologies of anemia in the newborn, those related to mitochondrial cytopathies are rare. Pearson syndrome is mostly diagnosed during infancy and characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells and exocrine pancreatic dysfunction. We describe two diagnosed cases of Pearson syndrome in the early neonatal period caused by severe macrocytic aregenerative anemia. Bone marrow aspiration revealed sideroblastic anemia and vacuolization of erythroblastic precursors. The diagnosis was confirmed by genetic analysis revealing a deletion in the mitochondrial DNA. These two newborns received monthly transfusions. Five other newborns suffering from Pearson syndrome with various clinical symptoms were found in literature. Pearson syndrome, rarely diagnosed in newborns, should be suspected in the presence of macrocytic aregenerative anemia and requires a bone marrow aspirate followed by a genetic analysis from a blood sample. Copyright 2009 Elsevier Masson SAS. All rights reserved.

A Disciplinary Immigrant. Alexander Smith at the University of Chicago, 1894-1911

ERIC Educational Resources Information Center

Cotter, Donald

2008-01-01

The publication in 1906 of Alexander Smith's "Introduction to general inorganic chemistry" inaugurated a decisive change in chemical pedagogy in the US, the effects of which are still evident. The nature and extent of Smith's innovations are described through a comparison of his text to its source material and contemporaries. His…

Differentiating fasciculoventricular pathway from Wolff-Parkinson-White syndrome by electrocardiography.

PubMed

Suzuki, Tsugutoshi; Nakamura, Yoshihide; Yoshida, Shuichiro; Yoshida, Yoko; Shintaku, Haruo

2014-04-01

In school-based cardiovascular screening programs in Japan, Wolff-Parkinson-White (WPW) syndrome is diagnosed based on the presence of an electrocardiographic (ECG) delta wave without differentiation from the fasciculoventricular pathway (FVP), although the risk of sudden death is associated only with the former. The purpose of this study was to differentiate FVP patients among children diagnosed with WPW syndrome by ECG. Children who were diagnosed with WPW syndrome through school screening between April 2006 and March 2008 and had QRS width ≤120 ms were included. Patients with asthma and/or coronary heart disease were excluded. FVP and WPW syndrome were differentiated based on ECG responses to adenosine triphosphate (ATP) injection. Age, PR interval, QRS width, and Rosenbaum classification were compared among patients. Thirty patients (median age 12.7 years, range 6.5-15.7 years) participated in the study. FVP was diagnosed in 23 patients (76.7%), and WPW syndrome in 7 (23.3%). In Rosenbaum type A patients, all six patients had WPW syndrome, whereas FVP was diagnosed in 23 of 24 and WPW syndrome was diagnosed in 1 of 24 of type B patients. Age, PR interval, and QRS width were not significantly different between the two conditions. ATP stress test was reliable in differentiating FVP from WPW syndrome. Although FVP is considered rare, the results of our study indicate that many WPW syndrome patients with QRS width ≤120 ms may actually have FVP. Patients categorized as type B are more likely to have FVP, whereas type A patients are most likely to have WPW syndrome. © 2013 Heart Rhythm Society Published by Heart Rhythm Society All rights reserved.

Psychological Resilience and Depressive Symptoms in Older Adults Diagnosed with Post-polio Syndrome

PubMed Central

Pierini, Diana; Stuifbergen, Alexa

2012-01-01

Depression is a serious co-morbidity in persons with disability, yet few studies have focused on depressive symptoms in persons aging with post-polio syndrome (PPS). We used a resilience conceptual framework that focused on patient psychosocial strengths to investigate the relationship between psychological resilience factors (acceptance, self-efficacy, personal resources, interpersonal relationships, self-rated health, spiritual growth, and stress management) and depressive symptoms in a large sample (n = 630) of persons over age 65 who were diagnosed with PPS. A higher percentage (40%) of the sample scored ≥ 10 on the CES-D 10 than was previously cited in other studies; however, 53% of the sample had good or excellent self-rated health, suggesting psychological resilience. Depression scores were regressed on seven selected resilience factors after controlling for functional limitations. Four of the seven variables accounted for 30% of the variance in depressive symptoms with spiritual growth representing the main predictor (β = −.26). The implications for rehabilitation nurses in developing a patient-strengths perspective in the assessment and counseling of individuals aging with PPS are discussed. PMID:20681392

Asperger syndrome, violent thoughts and clinically isolated syndrome.

PubMed

Vanderbruggen, N; Van Geit, N; Bissay, V; Zeeuws, D; Santermans, L; Baeken, C

2010-12-01

A young man, 23 years old, with a clinically isolated syndrome (CIS), presented violent thoughts during a neurological consultation. He was diagnosed with Asperger Syndrome based on a psychiatric and (neuro)psychological examination. Possible risk factors for acting-out and the implications for treatment, if CIS would evolve to MS, are discussed based on a review of the literature.

How Do Health Care Providers Diagnose Down Syndrome?

MedlinePlus

... gov/10004766 National Human Genome Research Institute. (2010). Learning about Down syndrome . Retrieved June 11, 2012, from http://www.genome.gov/19517824#3 ... NICHD News and Features Release: NIH launches INCLUDE ...

'Nothing is so soon forgot as pain': Reading Agony in Adam Smith's The Theory of Moral Sentiments.

PubMed

Franson, Craig

2014-01-01

Giving a rigorous philosophical explanation to the imagination's role in sympathy, Adam Smith's The Theory of Moral Sentiments became a central text in Romantic aesthetics. It not only justified the age's vogue for making suffering an object of artistic pleasure, it treated suffering's affectivity as the very foundation of society. Depicting agony as a spectacle to be read by others, Smith transformed morality into rhetoric, making human subjects into readers of a sentimentalised, textual world. Yet Smith's work restricted the bonds of sympathy, too, following established distinctions between mind and body that helped him to exclude physical pain from sympathetic response. This essay looks to Smith's context in the overlapping philosophical and medical discourses of the Scottish Enlightenment, exploring his moral theory's resonance with the nerve theories of Robert Whytt and William Cullen, then the leading figures in Scotland's rising medical community. Deepening our understanding of Smith's probable sources, it reframes Smith's intellectual and ideological legacy, foregrounding some of the ambivalent cultural and political implications of Smith's troubling censure of physical pain.

Smith-Purcell radiation from concave dotted gratings

NASA Astrophysics Data System (ADS)

Sergeeva, D. Yu.; Tishchenko, A. A.; Aryshev, A. S.; Strikhanov, M. N.

2018-02-01

We present the first-principles theory of Smith-Purcell effect from the concave dotted grating consisting of bent chains of separated micro- or nanoparticles. The numerical analysis demonstrates that the obtained spectral-angular distributions change significantly depending on the structure of the grating.

The Importance of What You Leave Behind: A Conversation with Carl Smith

ERIC Educational Resources Information Center

Teagarden, Jim; Zabel, Robert; Kaff, Marilyn

2017-01-01

Dr. Carl Smith shares his reflections on a varied career that included many different roles and responsibilities but shared a focus on children with behavior disorders. Dr. Smith also provides insight into where he believes the field is heading and offers his advice to those just entering the field. Perhaps the lasting advice to all is to focus on…

How Do Health Care Providers Diagnose Rett Syndrome?

MedlinePlus

... Browse AZTopics Browse A-Z Adrenal Gland Disorders Autism Spectrum Disorder (ASD) Down Syndrome Endometriosis Learning Disabilities ... NICHD Research Information Find a Study More Information Autism Spectrum Disorder (ASD) About NICHD Research Information Find ...

Rhetorical Studies: A Reassessment of Adam Smith's Lectures on Rhetoric and Belles Lettres.

ERIC Educational Resources Information Center

Purcell, William M.

1986-01-01

Offers a dissenting interpretation of Adam Smith's Lectures on Rhetoric and Belles Lettres and a more conservative perspective on Smith's significance to the history of rhetorical theory. Views the lectures as an historical commentary on literature and rhetoric from the perspective of an eighteenth-century lecturer. (JD)

78 FR 2295 - Charlissa C. Smith; Establishment of Atomic Safety and Licensing Board

Federal Register 2010, 2011, 2012, 2013, 2014

2013-01-10

... NUCLEAR REGULATORY COMMISSION [Docket No. 55-23694-SP; ASLBP No. 13-925-01-SP-BD01] Charlissa C... (Board) is being established to preside over the following proceeding: Charlissa C. Smith, (Denial of Senior Reactor Operator License). This proceeding concerns a hearing request from Charlissa C. Smith...

Starry Campus: Reducing Light Pollution at Smith College

NASA Astrophysics Data System (ADS)

Brenon, Alexandria

2017-01-01

This is the start of a program to teach Smith College students about the dangers posed by light pollution and inspire them to help make Smith a better dark sky area. This will focus both on general astronomy education to catch their interest and speciic light pollution information as well. My advisor is creating an initiative for dark skies education and preservation on college campuses, with this as the pilot program. College students can help both on campus and off when they will be able to take what they learn to inform their decisions about lighting when they move out on their own. The ultimate goal is to convince Smith College to make the changes it needs to reduce its light pollution as well as to motivate its students to learn more about astronomy and light pollution. I am developing an education and outreach program using venues such as house teas, lectures, and meetings to teach other students, the staff, and faculty about the issue. I am also working with existing clubs and organizations on campus such as the Green Team, the landscape studies department, and the Center for the Environment, Ecological Design, and Sustainability. This will help to develop campus lighting standards. These lighting standards will be proposed to the college, as there are no current standards in place for lighting around campus.

Translation of Novel Serotonin 5-HT7 Agonist Drug Candidates in Rodent Models of Fragile X Syndrome

DTIC Science & Technology

2016-09-01

President of DELSIA (Delivering Science Innovation for Autism ) and Vice President, Innovative Technologies at Autism Speaks, Daniel Smith, who...in autism and Fragile X syndrome. Notably, there are no 9  pharmacotherapies approved for core symptoms of autism or Fragile X syndrome, thus, our...HT1A partial agonist for autism . 6th Cisbio HTRF symposium (Brewster, MA), September 14-17, 2015. Acknowledged DOD funding. Teaching Lectures. 10

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.

A Rare Form of Guillan Barre Syndrome: A Child Diagnosed with Anti-GD1a and Anti-GD1b Positive Pharyngeal-Cervical-Brachial Variant.

PubMed

Uysalol, Metin; Tatlı, Burak; Uzel, Nedret; Cıtak, Agop; Aygün, Erhan; Kayaoğlu, Semra

2013-09-01

Pharyngeal-cervical-brachial (PCB) variant is a rare form of Guillan-Barre Syndrome (GBS). Antibodies against other membrane proteins like GM1b and GD1a have been found only in a small number of patients with Guillan Barre syndrome variant. Here, we report a 5.5 year-old boy diagnosed early with positive GD1a and GD1b gangliosides of Guillan-Barre syndrome pharyngeal cervical-Brachial variant, who improved and recovered fully in a short period. This is in contrast to those whose recovery period prolongs in spite of early diagnosis and appropriate treatment and/or those who experience incomplete recovery. In summary, diagnosis of PCB variant of GBS should be considered in infants with sudden onset bulbar symptoms and muscle weakness, and it should be kept in mind that early diagnosis and appropriate treatment can give successful outcomes.

Chinese urologists' practice patterns of diagnosing and treating chronic pelvic pain syndrome: a questionnaire survey.

PubMed

Zhang, Kai; Xu, Ben; Xiao, Yun-xiang; Shang, Xue-jun; Bai, Wen-jun; Wang, Xiao-feng; Liu, Ji-hong; Deng, Chun-hua

2014-08-18

To investigate the application of the Chinese Urological Association (CUA) guidelines on prostatitis and the effects on the clinical practice patterns of diagnosing and treating chronic pelvic pain syndrome (CPPS) among Chinese urologists. We conducted a questionnaire investigation of the CUA guidelines on prostatitis among the urologists from 399 hospitals in 63 cities of China, and performed statistical analyses on all the eligible questionnaires collected. Of the 2 251 questionnaires distributed, 2 046 (90.9%) were eligible, of which 92.5% were from the urologists in tertiary or secondary hospitals, of whom 72.3% had senior or intermediate professional titles, and 90.2% had studied the CUA guidelines. Most respondents agreed that Type III prostatitis was a clinical syndrome, of which the diagnosis should be made after other conditions with similar symptoms had been ruled out and the aim was to relieve pain, alleviate urination symptoms and improve quality of life. Those who had and those who had not studied the CUA guidelines differed in their viewpoints on CPPS as illustrated in the guidelines. In clinical practice, the most common treatment options for CPPS were pharmaceutical therapy (95.0%), life style adjustment (88.9%), and psychotherapy (79.9%), and the most frequently prescribed drugs were phytotherapy (84.5%), α-blockers (79.0%) and antibiotics (64.0%). CUA guidelines on prostatitis has gained a nationwide application and promoted the standardization of the management of CPPS in China.

Antenatal detection of Edwards (Trisomy 18) and Patau (Trisomy 13) syndrome: England and Wales 2005-2012.

PubMed

Springett, Anna L; Morris, Joan K

2014-09-01

Pregnancies with Edwards or Patau syndrome are often detected through screening for Down's syndrome. We aimed to evaluate the impact of screening for Down's syndrome on the prevalence of live births and antenatal diagnoses of Edwards and Patau syndrome. England and Wales, 2005 to 2012. Data from the National Down Syndrome Cytogenetic Register, which contains information on nearly all ante- or postnatally diagnosed cases of Edwards or Patau syndrome in which a karyotype was confirmed, were analysed. From 2005 to 2012, 3,941 diagnoses of Edwards syndrome and 1,567 diagnoses of Patau syndrome were recorded (prevalence of 7.0 and 2.8 per 10,000 births respectively). Only 11% (95% confidence interval [CI]: 10-12) of diagnoses of Edwards syndrome and 13% (95% CI: 11-14) of Patau syndrome were live births, resulting in live birth prevalences of 0.8 (95% CI: 0.7-0.8) and 0.4 (95% CI: 0.3-0.4) per 10,000 live births respectively. About 90% of pregnancies with Edwards or Patau syndrome were diagnosed antenatally, and this proportion remained constant over time. The proportion of diagnoses detected before 15 weeks increased from 50% in 2005 to 53% in 2012 for Edwards syndrome, and from 41% in 2005 to 63% in 2012 for Patau syndrome. Almost 700 women per year had a pregnancy with Edwards or Patau syndrome. Over 90% of these pregnancies were detected antenatally, with the increased use of first trimester screening for Down's syndrome resulting in the reduction in the mean gestational age at diagnosis of these syndromes. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

[Munchausen syndrome by proxy].

PubMed

Goñi González, T; Martínez Roda, Maria J; de la Cerda Ojeda, F; Gómez de Terreros, I

2008-06-01

Munchausen syndrome by proxy is an illness which is very difficult to diagnose. It has a high morbidity and mortality rate. The knowledge of the characteristics of the victim and the perpetrator can be quite useful for its early recognition. The American Professional Society on the Abuse of Children, has recently brought the terms for the syndrome up to date. We look at this updating and present six cases diagnosed in our hospital, analysing their main features and comparing them with the medical literature.

Lung Ultrasonography to Diagnose Transient Tachypnea of the Newborn.

PubMed

Liu, Jing; Chen, Xin-Xin; Li, Xiang-Wen; Chen, Shui-Wen; Wang, Yan; Fu, Wei

2016-05-01

This study explored the sensitivity and specificity of ultrasound for diagnosing transient tachypnea of the newborn (TTN). Ultrasound was performed by one export. Patients were placed in a supine, lateral recumbent, or prone position. The probe was placed perpendicular or parallel to the ribs, and each region of the lung was scanned. The scan results were compared with conventional chest radiographic results. A total of 1,358 infants were included in this study. We identified 412 cases without pulmonary diseases, 228 TTN cases, 358 respiratory distress syndrome (RDS) cases, 85 meconium aspiration syndrome (MAS) cases, 215 infectious pneumonia cases, and 60 other cases. The primary ultrasonic characteristic of TTN was pulmonary edema. "White lung" or a "compact B-line" were only observed in severe cases, whereas TTN primarily presented as pulmonary interstitial syndrome or "double lung point." Furthermore, double lung point could appear during the recovery period of severe TTN or RDS, MAS, and pneumonia. Lung consolidation with air bronchograms was not observed in TTN patients. The results showed that white lung or a compact B-line exhibited a sensitivity of 33.8% and a specificity of 91.3% in diagnosing TTN, whereas double lung point exhibited a sensitivity of 45.6% and a specificity of 94.8% in diagnosing severe TTN. Pulmonary edema, alveolar-interstitial syndrome, double lung point, white lung, and compact B-line are the primary ultrasound characteristics of TTN. Ultrasonic diagnosis of TTN based on these findings is accurate and reliable. TTN can be ruled out in the presence of lung consolidation with air bronchograms. Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

75 FR 11919 - Smith and Nephew, Inc., Wound Management-Largo Division, Including On-Site Leased Workers From...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-03-12

... DEPARTMENT OF LABOR Employment and Training Administration [TA-W-70,151] Smith and Nephew, Inc... November 5, 2009, applicable to workers of Smith and Nephew, Inc., Wound Management-Largo Division, Largo... workers leased from Adecco were employed on-site at the Largo, Florida location of Smith and Nephew, Inc...

STS-82 training in WETF facility with Steve Smith and Mark Lee

NASA Image and Video Library

1996-06-10

S96-11807 (10 June 1996) --- Astronaut Steven L. Smith (right), STS-82 mission specialist assigned to extravehicular activity (EVA) involved with the servicing of the Hubble Space Telescope (HST), gets help with the final touches of suit donning from crewmate Joseph R. Tanner. Minutes later, Smith was underwater in a nearby tank and neutrally buoyant, rehearsing some of the HST servicing chores with a crewmate.

Henry Hollingsworth Smith and His Bibliographical Index and Historical Record: The Beginning of American Surgical Historiography.

PubMed

Rutkow, Ira

2016-04-01

To explore the details of Henry Hollingsworth Smith's (1815-1890) achievement as the first physician to organize in a systematic and chronologic manner the details of the history of surgery in America and prepare a register of men who performed surgical operations. The life of Smith, the earliest of the nation's surgeons to elucidate the history of American surgery, is little known. His boosting the image of the scalpel wielder helped shape the future of the craft, in particular, surgery's rise as a specialty and profession. An analysis of the published medical literature and unpublished documents relating to Smith and his work to document the history of American surgery. During the 1850 s, a time when surgery was not considered a separate branch of medicine but a mere technical mode of treatment, Smith's efforts in surgical history provided much needed encouragement to surgeons in their pursuit of professional recognition. Although Smith's accomplishment as the nation's first compiler of the history of American surgery has long been forgotten, his effort afforded the men who performed surgical operations their earliest measure of self-respect. As such, Smith belongs in America's pantheon of surgical heroes.

Immune reconstitution inflammatory syndrome in acquired immunodeficiency syndrome.

PubMed

Jindal, A; Duggal, L; Jain, N; Malhotra, S

2008-01-01

A 33-year-old male presented with a history of fever and cough and was diagnosed to have pulmonary tuberculosis and acquired immunodeficiency syndrome (AIDS). He was started on antituberculosis therapy (ATT) followed by highly active anti-retroviral treatment (HAART) after one week. He developed an immune reconstitution inflammatory syndrome (IRIS) leading to an exacerbation of the tuberculosis disease. After HAART was stopped his condition improved dramatically.

Fat embolism syndrome

PubMed Central

George, Jacob; George, Reeba; Dixit, R.; Gupta, R. C.; Gupta, N.

2013-01-01

Fat embolism syndrome is an often overlooked cause of breathlessness in trauma wards. Presenting in a wide range of clinical signs of varying severity, fat embolism is usually diagnosed by a physician who keeps a high degree of suspicion. The clinical background, chronology of symptoms and corroborative laboratory findings are instrumental in a diagnosis of fat embolism syndrome. There are a few diagnostic criteria which are helpful in making a diagnosis of fat embolism syndrome. Management is mainly prevention of fat embolism syndrome, and organ supportive care. Except in fulminant fat embolism syndrome, the prognosis is usually good. PMID:23661916

Smith predictor based-sliding mode controller for integrating processes with elevated deadtime.

PubMed

Camacho, Oscar; De la Cruz, Francisco

2004-04-01

An approach to control integrating processes with elevated deadtime using a Smith predictor sliding mode controller is presented. A PID sliding surface and an integrating first-order plus deadtime model have been used to synthesize the controller. Since the performance of existing controllers with a Smith predictor decrease in the presence of modeling errors, this paper presents a simple approach to combining the Smith predictor with the sliding mode concept, which is a proven, simple, and robust procedure. The proposed scheme has a set of tuning equations as a function of the characteristic parameters of the model. For implementation of our proposed approach, computer based industrial controllers that execute PID algorithms can be used. The performance and robustness of the proposed controller are compared with the Matausek-Micić scheme for linear systems using simulations.

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

PubMed

Colombi, Marina; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Ritelli, Marco

2018-01-01

The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large majority of the patients presents with these clinical features, some do not and might remain undiagnosed or misdiagnosed. Here we describe a family with 2 affected members, a 23-year-old proposita and her 51-year-old mother, who presented subtle cutaneous signs, including a variable degree of skin hyperextensibility without extensive widened atrophic scars that apparently better fitted with the overlapping hypermobile EDS. The proposita also presented gastrointestinal symptoms secondary to aberrant mast cells mediators release, making the clinical picture even more puzzling. Both patients were diagnosed by molecular testing that revealed a COL5A1 splice mutation. This report highlights the relevance of molecular analysis in patients presenting rather mild signs of EDS, especially in familial cases, and the importance of clinical expertise to make such a diagnosis. Copyright © 2017. Published by Elsevier Masson SAS.

TAFRO Syndrome.

PubMed

Igawa, Takuro; Sato, Yasuharu

2018-02-01

TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

76 FR 59115 - Notice of Availability of Patent Fee Changes Under the Leahy-Smith America Invents Act

Federal Register 2010, 2011, 2012, 2013, 2014

2011-09-23

... new programs provided for in the Leahy-Smith America Invents Act (e.g., post-grant review, inter... Availability of Patent Fee Changes Under the Leahy- Smith America Invents Act AGENCY: United States Patent and... of the Leahy-Smith America Invents Act (i.e., September 26, 2011) by operation of the fifteen percent...

RadNet Air Data From Fort Smith, AR

EPA Pesticide Factsheets

This page presents radiation air monitoring and air filter analysis data for Fort Smith, AR from EPA's RadNet system. RadNet is a nationwide network of monitoring stations that measure radiation in air, drinking water and precipitation.

Breeding habitat associations and predicted distribution of an obligate tundra-breeding bird, Smith's Longspur

USGS Publications Warehouse

Wild, Teri C.; Kendall, Steven J.; Guldager, Nikki; Powell, Abby N.

2015-01-01

Smith's Longspur (Calcarius pictus) is a species of conservation concern which breeds in Arctic habitats that are expected to be especially vulnerable to climate change. We used bird presence and habitat data from point-transect surveys conducted at 12 sites across the Brooks Range, Alaska, 2003–2009, to identify breeding areas, describe local habitat associations, and identify suitable habitat using a predictive model of Smith's Longspur distribution. Smith's Longspurs were observed at seven sites, where they were associated with a variety of sedge–shrub habitats composed primarily of mosses, sedges, tussocks, and dwarf shrubs; erect shrubs were common but sparse. Nonmetric multidimensional scaling ordination of ground cover revealed positive associations of Smith's Longspur presence with sedges and mosses and a negative association with high cover of shrubs. To model predicted distribution, we used boosted regression trees to relate landscape variables to occurrence. Our model predicted that Smith's Longspurs may occur in valleys and foothills of the northeastern and southeastern mountains and in upland plateaus of the western mountains, and farther west than currently documented, over a predicted area no larger than 15% of the Brooks Range. With climate change, shrubs are expected to grow larger and denser, while soil moisture and moss cover are predicted to decrease. These changes may reduce Smith's Longspur habitat quality and limit distribution in the Brooks Range to poorly drained lowlands and alpine plateaus where sedge–shrub tundra is likely to persist. Conversely, northward advance of shrubs into sedge tundra may create suitable habitat, thus supporting a northward longspur distribution shift.

Adam Smith, Religion, and Tuition Tax Credits.

ERIC Educational Resources Information Center

Alexander, Kern

1983-01-01

Examines tuition tax credit programs in framework of Adam Smith's ideas on the economic impact of established churches. Finds that tuition tax credits would amount to state expenditures to relieve the financial burden of parochial school parents and would allow churches to invest commercially to maintain their charitable functions. (JW)

[Autism spectrum disorders in adulthood: clinical and neuropsychological findings of Aspergers syndrome diagnosed late in life].

PubMed

Lehnhardt, F-G; Gawronski, A; Volpert, K; Schilbach, L; Tepest, R; Huff, W; Vogeley, K

2011-05-01

High-functioning autism (HFA) and Aspergers syndrome (AS) are autism spectrum disorders (ASD) characterised by disturbances in social interaction, both verbal and non-verbal communication and repetitive and/or restrictive behaviour since early childhood. Symptoms appear generally during early childhood and adolescence. The increasing need to clarify diagnostic queries in advanced age led to the constitution of specialised outpatient clinics for adults involving a growing amount of HFA/AS subjects diagnosed late in life. However, thus far neuropsychological data about this group are scarce. We present a subgroup of 39 patients with HFA/AS (mean age at diagnosis 31.1 ± 8.9 years) who were consecutively diagnosed at the autism outpatient clinic at the Department of Psychiatry at the University Hospital Cologne. Autistic symptoms (autism spectrum quotient; AQ), depressive symptoms (Beck depression inventory; BDI), general intelligence (HAWIE-R), social cognition ("theory of mind", ToM) and executive functioning (COWAT) were systematically studied in comparison to a control group matched for age, education, gender and intelligence (n = 39). HFA/AS subjects presented higher AQ scores (40.4 ± 5.2) as opposed to the healthy controls (13.5 ± 4.8). Neuropsychologically, patients showed deficits in social cognition, executive functions and in subtests of HAWIE-R related to verbal comprehension and perceptual organisation as opposed to the healthy control group. The diagnosis of autistic disorders in adulthood basically relies on the clinical assessment of autistic core symptoms which were corroborated by high AQ values. The self-rating instrument AQ was found to be highly discriminative between the HFA/AS group and the healthy control group. The neuropsychological profile of adult HFA/AS patients diagnosed late in life is compatible with that of previously investigated HFA/AS populations. These findings show that such basic autism-associated deficits persist until

Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome.

PubMed

Manjima, S; Naik, Zameera; Keluskar, Vaishali; Bagewadi, Anjana

2015-03-01

Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome

PubMed Central

Manjima, S.; Naik, Zameera; Keluskar, Vaishali; Bagewadi, Anjana

2015-01-01

Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome. PMID:25821359

Spectral and spatial shaping of Smith-Purcell radiation

NASA Astrophysics Data System (ADS)

Remez, Roei; Shapira, Niv; Roques-Carmes, Charles; Tirole, Romain; Yang, Yi; Lereah, Yossi; Soljačić, Marin; Kaminer, Ido; Arie, Ady

2017-12-01

The Smith-Purcell effect, observed when an electron beam passes in the vicinity of a periodic structure, is a promising platform for the generation of electromagnetic radiation in previously unreachable spectral ranges. However, most of the studies of this radiation were performed on simple periodic gratings, whose radiation spectrum exhibits a single peak and its higher harmonics predicted by a well-established dispersion relation. Here, we propose a method to shape the spatial and spectral far-field distribution of the radiation using complex periodic and aperiodic gratings. We show, theoretically and experimentally, that engineering multiple peak spectra with controlled widths located at desired wavelengths is achievable using Smith-Purcell radiation. Our method opens the way to free-electron-driven sources with tailored angular and spectral responses, and gives rise to focusing functionality for spectral ranges where lenses are unavailable or inefficient.

Groundwater and surface-water interaction within the upper Smith River Watershed, Montana 2006-2010

USGS Publications Warehouse

Caldwell, Rodney R.; Eddy-Miller, Cheryl A.

2013-01-01

The 125-mile long Smith River, a tributary of the Missouri River, is highly valued as an agricultural resource and for its many recreational uses. During a drought starting in about 1999, streamflow was insufficient to meet all of the irrigation demands, much less maintain streamflow needed for boating and viable fish habitat. In 2006, the U.S. Geological Survey, in cooperation with the Meagher County Conservation District, initiated a multi-year hydrologic investigation of the Smith River watershed. This investigation was designed to increase understanding of the water resources of the upper Smith River watershed and develop a detailed description of groundwater and surface-water interactions. A combination of methods, including miscellaneous and continuous groundwater-level, stream-stage, water-temperature, and streamflow monitoring was used to assess the hydrologic system and the spatial and temporal variability of groundwater and surface-water interactions. Collectively, data are in agreement and show: (1) the hydraulic connectedness of groundwater and surface water, (2) the presence of both losing and gaining stream reaches, (3) dynamic changes in direction and magnitude of water flow between the stream and groundwater with time, (4) the effects of local flood irrigation on groundwater levels and gradients in the watershed, and (5) evidence and timing of irrigation return flows to area streams. Groundwater flow within the alluvium and older (Tertiary) basin-fill sediments generally followed land-surface topography from the uplands to the axis of alluvial valleys of the Smith River and its tributaries. Groundwater levels were typically highest in the monitoring wells located within and adjacent to streams in late spring or early summer, likely affected by recharge from snowmelt and local precipitation, leakage from losing streams and canals, and recharge from local flood irrigation. The effects of flood irrigation resulted in increased hydraulic gradients

Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report.

PubMed

Białka, Agnieszka; Gawlik, Aneta; Drosdzol-Cop, Agnieszka; Wilk, Krzysztof; Małecka-Tendera, Ewa; Skrzypulec-Plinta, Violetta

2016-04-01

Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis. A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH. Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

A Rare Form of Guillan Barre Syndrome: A Child Diagnosed with Anti-GD1a and Anti-GD1b Positive Pharyngeal-Cervical-Brachial Variant

PubMed Central

Uysalol, Metin; Tatlı, Burak; Uzel, Nedret; Çıtak, Agop; Aygün, Erhan; Kayaoğlu, Semra

2013-01-01

Background: Pharyngeal-cervical-brachial (PCB) variant is a rare form of Guillan-Barre Syndrome (GBS). Antibodies against other membrane proteins like GM1b and GD1a have been found only in a small number of patients with Guillan Barre syndrome variant. Case Report: Here, we report a 5.5 year-old boy diagnosed early with positive GD1a and GD1b gangliosides of Guillan-Barre syndrome pharyngeal cervical-Brachial variant, who improved and recovered fully in a short period. This is in contrast to those whose recovery period prolongs in spite of early diagnosis and appropriate treatment and/or those who experience incomplete recovery. Conclusion: In summary, diagnosis of PCB variant of GBS should be considered in infants with sudden onset bulbar symptoms and muscle weakness, and it should be kept in mind that early diagnosis and appropriate treatment can give successful outcomes. PMID:25207134

Smiths Medical Medfusion 3010a syringe pump may overinfuse if software is outdated.

PubMed

2010-04-01

Smiths Medical Medfusion 3010a syringe pumps that aren't equipped with the latest software version (2.0.6) could overinfuse if the "recall last settings" function is used following an infusion in volume/time mode. If your facility has pumps equipped with software versions older than 2.0.6, contact Smiths Medical to obtain an upgrade.

Speech/Language Pathologists Reflect on Sally Smith and the Lab School of Washington

ERIC Educational Resources Information Center

Learning Disabilities: A Multidisciplinary Journal, 2010

2010-01-01

Sally L. Smith had a clear vision of how she thought speech and language services should be integrated into her school, The Lab School of Washington. It was Smith's idea that language therapists should work individually with students to help them make gains in their particular areas of need, as well as to work collaboratively with the teachers,…

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.

PubMed

Villate, Olatz; Ibarluzea, Nekane; Fraile-Bethencourt, Eugenia; Valenzuela, Alberto; Velasco, Eladio A; Grozeva, Detelina; Raymond, F L; Botella, María P; Tejada, María-Isabel

2018-01-01

Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult. Next generation sequencing (NGS) of a panel of intellectual disability related genes was performed in an adult patient without molecular diagnosis. A splice donor variant in CHD7 (c.5665 + 1G > T) was identified. To study its potential pathogenicity, exons and flanking intronic sequences were amplified from patient DNA and cloned into the pSAD ® splicing vector. HeLa cells were transfected with this construct and a wild-type minigene and functional analysis were performed. The construct with the c.5665 + 1G > T variant produced an aberrant transcript with an insert of 63 nucleotides of intron 28 creating a premature termination codon (TAG) 25 nucleotides downstream. This would lead to the insertion of 8 new amino acids and therefore a truncated 1896 amino acid protein. As a result of this, the patient was diagnosed with CHARGE syndrome. Functional analyses underline their usefulness for studying the pathogenicity of variants found by NGS and therefore its application to accurately diagnose patients.

How Do Health Care Providers Diagnose Klinefelter Syndrome?

MedlinePlus

... and when a diagnosis occurs: Few newborns and boys are tested for or diagnosed with KS. Although newborns in the United States are screened for some conditions, they are not screened for XXY or other sex-chromosome differences. In childhood, symptoms can be subtle ...

Noonan syndrome

MedlinePlus

... ray , or echocardiogram Hearing tests Growth hormone levels Genetic testing can help diagnose this syndrome. ... Problems with the structure of the heart Short height Social problems due to physical symptoms

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.

Turner Syndrome in Girls Presenting with Coarctation of the Aorta.

PubMed

Eckhauser, Aaron; South, Sarah T; Meyers, Lindsay; Bleyl, Steven B; Botto, Lorenzo D

2015-11-01

To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta. The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded. Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve. At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta. Copyright © 2015 Elsevier Inc. All rights reserved.

C-smithing of Voyager 2 non-imaging instrument pointing information at Uranus

NASA Technical Reports Server (NTRS)

Wang, Tseng-Chan; Acton, Charles H.; Underwood, Ian M.; Synnott, Stephen P.

1988-01-01

The development of a family of techniques, collectively called C-smithing, for improving spacecraft nonimaging instrument pointing knowledge is discussed. C-smithing studies using data from the Voyager 2 Uranus Encounter show that significant improvements in pointing knowledge for nonimaging instruments can be achieved with these techniques. This improved pointing information can be used to regenerate instrument viewing geometry parameters for the encounter, which can then be made available to science investigators.

Trends in Autism Spectrum Disorder Diagnoses: 1994-2007

ERIC Educational Resources Information Center

Rosenberg, Rebecca E.; Daniels, Amy M.; Law, J. Kiely; Law, Paul A.; Kaufmann, Walter E.

2009-01-01

We analyzed predictors of parent-reported initial diagnosis (autistic disorder [AD], pervasive developmental disorder-not otherwise specified [PDD-NOS], pervasive developmental disorder ["PDD"] and autism spectrum disorder ["ASD"], and Asperger syndrome [AS]), among 6,176 individuals with autism spectrum disorders diagnosed from 1994 through 2007.…

Smith and Valley-Gray to Lead NASP

ERIC Educational Resources Information Center

Deupree, Charles

2011-01-01

The 2011 elections are complete and Amy Smith has been elected to lead NASP in 2012. Amy has a long history of serving her state and national professional organizations, most recently as NASP program manager for advocacy and before that as the Pennsylvania delegate and Northeast Region delegate representative. She served the Association of School…

Theory of the special Smith-Purcell radiation from a rectangular grating

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

Liu, Weihao, E-mail: liuwhao@ustc.edu.cn; He, Zhigang, E-mail: hezhg@ustc.edu.cn; Jia, Qika

2015-12-15

The recently uncovered special Smith-Purcell radiation (S-SPR) from the rectangular grating has significantly higher intensity than the ordinary Smith-Purcell radiation (SPR). Its monochromaticity and directivity are also much better. Here we explored the mechanism of the S-SPR by applying the fundamental electromagnetic theory and simulations. We have confirmed that the S-SPR is exactly from the radiating eigen modes of the grating. Its frequency and direction are well correlated with the beam velocity and structure parameters, which indicates its promising applications in tunable wave generation and beam diagnostic.

British medicine in the Peruvian Andes: the travels of Archibald Smith M.D. (1820-1870).

PubMed

Lossio, Jorge

2006-01-01

This article traces the travels of the Scottish physician Archibald Smith through the Peruvian Andes between the 1820s and 1860s. Despite his prominent role in the nineteenth-century Peruvian medical scene, almost nothing has been written on Archibald Smith. By exploring Smith's medical activities, publications, and debates, this article intends to uncover unexplored areas of Peruvian medical history, such as the animosity between local and foreign physicians during the post-Independence war era and the important role played by medical geography as a scientific discipline for redefining ethnical and regional issues.

The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome.

PubMed

Engelbert, Raoul H H; Juul-Kristensen, Birgit; Pacey, Verity; de Wandele, Inge; Smeenk, Sandy; Woinarosky, Nicoleta; Sabo, Stephanie; Scheper, Mark C; Russek, Leslie; Simmonds, Jane V

2017-03-01

New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. This guideline aims to provide practitioners with the state of the art regarding the assessment and management of children, adolescents, and adults with JHS/hEDS. Due to the complexity of the symptoms in the profile of JHS/hEDS, the International Classification of Functioning, Disability and Health (ICF) is adopted as a central framework whereby the umbrella term of disability is used to encompass functions, activities and participation, as well as environmental and personal factors. The current evidence-based literature regarding the management of JHS/hEDS is limited in size and quality and there is insufficient research exploring the clinical outcomes of a number of interventions. Multicenter randomized controlled trials are warranted to assess the clinical and cost-effectiveness of interventions for children and adults. Until further multicenter trials are conducted, clinical decision-making should be based on theoretical and the current limited research evidence. For all individuals diagnosed with JHS/hEDS, international consensus and combined efforts to identify risk profiles would create a better understanding of the pathological mechanisms and the potential for optimizing health care for affected individuals. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

[Subclinical and established kidney disease in recently diagnosed hypertensive patients].

PubMed

Gómez-Marcos, Manuel Angel; Martínez-Salgado, Carlos; Grandes, Gonzalo; Recio-Rodríguez, José Ignacio; Castaño Sánchez, Yolanda; Rodríguez Sánchez, Emiliano; García-Ortiz, Luis

2010-03-06

To estimate renal disease in recently diagnosed hypertensive patients, and to identify factors related to renal disease. Cross-sectional study, with 425 hypertensive patients recently diagnosed in primary health care; renal disease was estimated with serum creatinine, albumin/creatinine index and glomerular filtration rate (GFR). We analyzed cardiovascular risk factors (CRF), subclinical organ injury and cardiovascular disease following the criteria of the 2007 European Guide of Hypertension. Average age: 58,96 +/- 12,73 years old, 63,3% male. We found dyslipemia in 80%, abdominal obesity in 49% and metabolic syndrome in 36% patients. These patients showed increased serum creatinine 3,3%, a reduction in GFR 9,6%, hidden renal disease 6,4%, microalbuminuria 7,5% and nephropathy 2,4%. Hypertensive patients with renal disease (17,88%) were older, with higher systolic pressure, higher incidence of metabolic syndrome, abnormal carotid intima-media thickness and ankle-arm index, and presence of cardiovascular disease. Variables associated with renal disease were metabolic syndrome (odds ratio = 11,12) and ankle-arm index (odds ratio = 17,55). Variables related to creatinina were sex, ankle-arm index and metabolic syndrome; variables related to GFR were sex, age, ankle-arm index, metabolic syndrome and body mass index (BMI); variables related with albumin/creatinine index included diabetes mellitus. Renal disease is detected in about 2 out of 10 hypertensive patients, when, besides serum creatinina, we analyze albumin/creatinine index and GFR. Metabolic syndrome and ankle-arm index are the main variables associated with renal disease. Copyright 2009 Elsevier España, S.L. All rights reserved.

How To Survive in Postindustrial Environments: Adam Smith's Advice for Today's Colleges and Universities.

ERIC Educational Resources Information Center

Ortmann, Andreas

1997-01-01

Adam Smith's discussion of the payment modes of teachers and resulting consequences for the quality of teaching and process of curricular innovation are reviewed through the conceptual lens of modern agency theory. Smith's analysis of higher education in his day (eighteenth century) sheds light on faculty incentive and assessment problems that…

77 FR 30047 - Notice of Opportunity for Public Comment on Surplus Property Release at Michael J Smith Field...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-05-21

... Comment on Surplus Property Release at Michael J Smith Field, Beaufort, NC AGENCY: Federal Aviation... J Smith Field, be used for aeronautical purposes. DATES: Comments must be received on or before June... property at the Michael J Smith Field. The property consists of one parcel located on the north side of...

75 FR 9441 - Lucas-Smith Automotive, Inc.: Potosi, MO; Notice of Negative Determination Regarding Application...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-03-02

... DEPARTMENT OF LABOR Employment and Training Administration [TA-W-71,388] Lucas-Smith Automotive, Inc.: Potosi, MO; Notice of Negative Determination Regarding Application for Reconsideration By...), applicable to workers and former workers of Lucas- Smith Automotive, Inc., Potosi, Missouri (subject firm...

A comparison of muscle activation between a Smith machine and free weight bench press.

PubMed

Schick, Evan E; Coburn, Jared W; Brown, Lee E; Judelson, Daniel A; Khamoui, Andy V; Tran, Tai T; Uribe, Brandon P

2010-03-01

The bench press exercise exists in multiple forms including the machine and free weight bench press. It is not clear though how each mode differs in its effect on muscle activation. The purpose of this study was to compare muscle activation of the anterior deltoid, medial deltoid, and pectoralis major during a Smith machine and free weight bench press at lower (70% 1 repetition maximum [1RM]) and higher (90% 1RM) intensities. Normalized electromyography amplitude values were used during the concentric phase of the bench press to compare muscle activity between a free weight and Smith machine bench press. Participants were classified as either experienced or inexperienced bench pressers. Two testing sessions were used, each of which entailed either all free weight or all Smith machine testing. In each testing session, each participant's 1RM was established followed by 2 repetitions at 70% of 1RM and 2 repetitions at 90% of 1RM. Results indicated greater activation of the medial deltoid on the free weight bench press than on the Smith machine bench press. Also, there was greater muscle activation at the 90% 1RM load than at the 70% 1RM load. The results of this study suggest that strength coaches should consider choosing the free weight bench press over the Smith machine bench press because of its potential for greater upper-body muscular development.

Psychosocial Characteristics of Women with a Delayed Diagnosis of Turner Syndrome.

PubMed

Reimann, Gabrielle E; Bernad Perman, Martha M; Ho, Pei-Shu; Parks, Rebecca A; Comis, Leora E

2018-05-09

To characterize the psychosocial profiles of adult women diagnosed with Turner syndrome before (early diagnosis) and at or after (late diagnosis) 13 years of age. Women with Turner syndrome ages 22 and older at evaluation (n = 110) participated in a cross-sectional study at the National Institutes of Health. Researchers performed nonparametric and logistic regression analyses to assess early and late diagnosis cohorts on measures of depression, substance use, and perceptions of competence and identity. Of study participants, 47% received a Turner syndrome diagnosis at or after age 13 years. Median age at diagnosis was 12.0 years (range, 0-43). Covariate-adjusted models revealed that women with late diagnoses had an increased likelihood of developing mild to severe depressive symptoms (OR,  7.36) and a decreased likelihood of being perceived as competent (OR, 0.26). Women with a late diagnosis also exhibited more frequent substance use compared with women with early diagnoses. These data suggest that Turner syndrome diagnoses received at or after age 13 years may contribute to adverse outcomes related to depression, substance use, and perceptions of competence. Delayed Turner syndrome diagnoses may place women and girls at risk for negative psychosocial development extending into adulthood. These findings indicate it is important for pediatricians to evaluate psychosocial domains in girls with Turner syndrome regularly, particularly among those diagnosed at age 13 years or older. ClinicalTrials.gov: NCT00006334. Published by Elsevier Inc.

An Alternative View of the Instructional Design Process: A Response to Smith and Boling

ERIC Educational Resources Information Center

Gibbons, Andrew S.; Yanchar, Stephen C.

2010-01-01

A recent literature review by Smith and Boling (2009) critically examines the received view of instructional design in educational technology. Smith and Boling conclude that the foundational literature characterizes design in a way that leads to a constrained understanding of design, especially by novices. They suggest that as a field we move…

Proteus syndrome: association with gingival hyperplasia.

PubMed

Arendorf, T M; Hanslo, B

1995-09-01

A 9-year old Black boy with gigantism of the hands and feet, and recurrent gingival hyperplasia, diagnosed as Proteus syndrome is presented. The oral manifestations of this syndrome are described. To the best of our knowledge, this is the first reported case of gingival hyperplasia associated with Proteus syndrome.

Factors associated with severe dry eye in primary Sjögren's syndrome diagnosed patients.

PubMed

Fernandez Castro, Mónica; Sánchez-Piedra, Carlos; Andreu, Jose Luis; Martínez Taboada, Víctor; Olivé, Alejandro; Rosas, Jose

2018-06-01

Primary Sjögren's syndrome (pSS) is an autoimmune disease, characterized by lymphocytic infiltration of exocrine glands and other organs, resulting in dry eye, dry mouth and extraglandular systemic findings. To explore the association of severe or very severe dry eye with extraocular involvement in patients diagnosed with primary Sjögren's syndrome. SJOGRENSER registry is a multicenter cross-sectional study of pSS patients. For the construction of our main variable, severe/very severe dry eye, we used those variables that represented a degree 3-4 of severity according to the 2007 Dry Eye Workshop classification. First, bivariate logistic regression models were used to identify the effect of each independent variable on severe/very severe dry eye. Secondly, multivariate analysis using regression model was used to establish the independent effect of patient characteristics. Four hundred and thirty-seven patients were included in SJOGRENSER registry; 94% of the patients complained of dry eye and 16% developed corneal ulcer. Schirmer's test was pathological in 92% of the patients; 378 patients presented severe/very severe dry eye. Inflammatory articular involvement was significantly more frequent in patients with severe/very severe dry eye than in those without severe/very severe dry eye (82.5 vs 69.5%, p = 0,028). Inflammatory joint involvement was associated with severe/very severe dry eye in the multivariate analysis, OR 2.079 (95% CI 1.096-3.941). Severe or very severe dry eye is associated with the presence of inflammatory joint involvement in patients with pSS. These results suggest that a directed anamnesis including systemic comorbidities, such as the presence of inflammatory joint involvement or dry mouth in patients with dry eye, would be useful to suspect a pSS.

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

May, M.; Schwartz, C.; Huston, S.

The Opitz GBBB syndrome (OS) is characterized in part by widely spaced inner ocular canthi and hypospadias. Recently, linkage analysis showed that the gene for the X-linked form to be located in an 18 cM region spanning Xp22. We have now conducted linkage analysis in a family previously published as having the BBB syndrome and found tight linkage to DXS7104 (Z = 3.3, {theta} = 0.0). Our data narrows the candidate region to 4 cM and should facilitate the identification and characterization of one of the genes involved in midline development. 21 refs., 1 fig., 1 tab.

The Adventures of Captain John Smith, Pocahontas and a Sundial: Cosmology, Mathematics, and Power at the Time of Jamestown

NASA Astrophysics Data System (ADS)

Schechner, Sara J.

2007-12-01

While exploring the Chickahominy River in Virginia by canoe in December 1607, Captain John Smith was ambushed by 200 Powhatan Indians and chased into the swamp. Wounded by arrows and mired in the cold mud, Smith surrendered and was led to their chieftain, Opechancanough. Smith played for time. He pulled out his pocket sundial and proceeded to deliver a lecture on astronomy. The Indians marveled at the dancing needle of the magnetic compass, which they could plainly see but not touch because of the glass cover. They apparently thought less of his discourse in a foreign language on the sun, moon, and planets, as within the hour, Smith's captors had him tied to a tree and were ready to shoot him. But then, Opechancanough held the sundial aloft and spared Smith's life. For the next month, Smith was paraded around various Indian villages before being condemned to have his head bashed in. Pocahontas, however, threw herself across Smith's body in order to save his life. This legendary episode reveals more than Smith's ingenuity. His compass sundial, shaped and marked like a celestial globe, was a microcosm of his universe. It embodied the belief that the smallest things mirrored the large, that number was the key to God's creation, and that by means of mathematical instruments, men could dominate that world (or at least extricate themselves from tight spots!). This paper will examine the astronomical ideas and instruments on which these beliefs were based, and show how ultimately, Smith's sundial also represented the clash of two cosmologies-that of the Indians and European settlers.

Pregnancy outcomes in Lebanese women with multiple sclerosis (the LeMS study): a prospective multicentre study

PubMed Central

Fares, Jawad; Nassar, Anwar H; Gebeily, Souheil; Kobeissy, Firas; Fares, Youssef

2016-01-01

Objective The Lebanese Multiple Sclerosis (LeMS) study aims to assess the influence of pregnancy and delivery on the clinical course of multiple sclerosis (MS) in Lebanese women. Setting This prospective multicentre study took place in three MS referral university medical centres in Lebanon. Participants Included were 29 women over 18 years who had been diagnosed with MS according to the McDonald criteria, and became pregnant between 1995 and 2015. Participating women should have stopped treatment 3 months before conception and become pregnant after the onset of MS. Women were followed up from 1 year preconceptionally and for 4 years postpartum. Main outcome measures The annualised relapse rates per participant during each 3-month period during pregnancy and each year postpartum were compared with the relapse rate during the year before pregnancy using the paired two-tailed t test. p Values <0.05 were considered statistically significant for all analyses (95% CI). Results 64 full-term pregnancies were recorded. All pregnancies (100%) resulted in live births, with no complications or other diseases. In comparison with the prepregnancy year, in which the mean relapse rate±SE was 0.17±0.07, there was a significant reduction in the relapse rate during pregnancy and in the first year postpartum (p=0.02), but an increase in the rate in the second year postpartum (0.21±0.08). Thereafter, from the third year postpartum through the following fourth year, the annualised relapse rate fell slightly but did not differ from the annualised relapse rate recorded in the prepregnancy year (0.17±0.07). Conclusions Pregnancy in Lebanese women with MS does not seem to increase the risk of complications. No relapses were observed during pregnancy and in the first year postpartum; however, relapses rebounded in the second year postpartum, and over the long term, returned to the levels that preceded pregnancy. PMID:27178979

Pregnancy outcomes in Lebanese women with multiple sclerosis (the LeMS study): a prospective multicentre study.

PubMed

Fares, Jawad; Nassar, Anwar H; Gebeily, Souheil; Kobeissy, Firas; Fares, Youssef

2016-05-13

The Lebanese Multiple Sclerosis (LeMS) study aims to assess the influence of pregnancy and delivery on the clinical course of multiple sclerosis (MS) in Lebanese women. This prospective multicentre study took place in three MS referral university medical centres in Lebanon. Included were 29 women over 18 years who had been diagnosed with MS according to the McDonald criteria, and became pregnant between 1995 and 2015. Participating women should have stopped treatment 3 months before conception and become pregnant after the onset of MS. Women were followed up from 1 year preconceptionally and for 4 years postpartum. The annualised relapse rates per participant during each 3-month period during pregnancy and each year postpartum were compared with the relapse rate during the year before pregnancy using the paired two-tailed t test. p Values <0.05 were considered statistically significant for all analyses (95% CI). 64 full-term pregnancies were recorded. All pregnancies (100%) resulted in live births, with no complications or other diseases. In comparison with the prepregnancy year, in which the mean relapse rate±SE was 0.17±0.07, there was a significant reduction in the relapse rate during pregnancy and in the first year postpartum (p=0.02), but an increase in the rate in the second year postpartum (0.21±0.08). Thereafter, from the third year postpartum through the following fourth year, the annualised relapse rate fell slightly but did not differ from the annualised relapse rate recorded in the prepregnancy year (0.17±0.07). Pregnancy in Lebanese women with MS does not seem to increase the risk of complications. No relapses were observed during pregnancy and in the first year postpartum; however, relapses rebounded in the second year postpartum, and over the long term, returned to the levels that preceded pregnancy. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

A Retrospective, Longitudinal, Claims-Based Comparison of Concomitant Diagnoses Between Individuals with and Without Down Syndrome.

PubMed

Kong, Amanda M; Hurley, Dana; Evans, Kristin A; Brixner, Diana; Csoboth, Csilla; Visootsak, Jeannie

2017-07-01

Individuals with Down syndrome (DS) experience various comorbidities in excess of the prevalence seen among the non-DS population. However, the extent of the excess burden of comorbidities specifically within commercially and publicly insured DS populations aged < 21 years is not currently known. To (a) describe the most common diagnoses among individuals with DS who have either commercial or Medicaid insurance and (b) compare the prevalence of those diagnoses between DS cases and non-DS controls. This was a longitudinal, retrospective study using health care claims of commercially insured and Medicaid-insured individuals in the Truven Health MarketScan Databases from 2008 to 2015. Individuals aged < 2, 2-5, 6-11, and 12-20 years with a DS diagnosis (cases; commercial: n = 15,948; Medicaid: n = 11,958) were matched to individuals without DS (controls; commercial: n = 47,844; Medicaid: n = 35,874) using a 1:3 ratio. The annual number of diagnoses was compared between cases and controls within age groups using t-tests, and the prevalence of the most common diagnoses was compared using chi-square tests. Cases in all age groups in both databases had more diagnoses annually than controls (mean =9-17 per year vs. 4-10 per year, P < 0.001), and the number of diagnoses decreased with age for cases and controls. Among the most common case diagnoses were upper respiratory infections (28.9%-59.1% vs. 19.5%-52.9%); suppurative otitis media (25.1%-56.8% vs. 8.7%-51.2%); nutrition/metabolic/developmental symptoms (37.9%-50.4% vs. 7.7%-10.6%); delays in development (22.8%-52.8% vs. 4.1%-10.9%); and general symptoms (35.1%-47.2% vs. 22.1%-37.2%), and the prevalence of each was greater among cases versus controls in all age groups in both databases (P < 0.001). The most common diagnoses among controls included some of the same as among cases, as well as acute pharyngitis (18.7%-31.8% vs. 19.2%-30.5%); allergic rhinitis (19.9%-24.3% vs. 15.3%-20.7%); viral/chlamydial infections (24

How Do Health Care Providers Diagnose Fragile X Syndrome?

MedlinePlus

... Browse AZTopics Browse A-Z Adrenal Gland Disorders Autism Spectrum Disorder (ASD) Down Syndrome Endometriosis Learning Disabilities ... NICHD Research Information Find a Study More Information Autism Spectrum Disorder (ASD) About NICHD Research Information Find ...

Chronic exertional compartment syndrome with medial tibial stress syndrome in twins.

PubMed

Banerjee, Purnajyoti; McLean, Christopher

2011-06-14

Chronic exertional compartment syndrome and medial tibial stress syndrome are uncommon conditions that affect long-distance runners or players involved in team sports that require extensive running. We report 2 cases of bilateral chronic exertional compartment syndrome, with medial tibial stress syndrome in identical twins diagnosed with the use of a Kodiag monitor (B. Braun Medical, Sheffield, United Kingdom) fulfilling the modified diagnostic criteria for chronic exertional compartment syndrome as described by Pedowitz et al, which includes: (1) pre-exercise compartment pressure level >15 mm Hg; (2) 1 minute post-exercise pressure >30 mm Hg; and (3) 5 minutes post-exercise pressure >20 mm Hg in the presence of clinical features. Both patients were treated with bilateral anterior fasciotomies through minimal incision and deep posterior fasciotomies with tibial periosteal stripping performed through longer anteromedial incisions under direct vision followed by intensive physiotherapy resulting in complete symptomatic recovery. The etiology of chronic exertional compartment syndrome is not fully understood, but it is postulated abnormal increases in intramuscular pressure during exercise impair local perfusion, causing ischemic muscle pain. No familial predisposition has been reported to date. However, some authors have found that no significant difference exists in the relative perfusion, in patients, diagnosed with chronic exertional compartment syndrome. Magnetic resonance images of affected compartments have indicated that the pain is not due to ischemia, but rather from a disproportionate oxygen supply versus demand. We believe this is the first report of chronic exertional compartment syndrome with medial tibial stress syndrome in twins, raising the question of whether there is a genetic predisposition to the causation of these conditions. Copyright 2011, SLACK Incorporated.

Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist's initiative.

PubMed

Landsbergen, K M; Prins, J B; Brunner, H G; van Duijvendijk, P; Nagengast, F M; van Krieken, J H; Ligtenberg, M; Hoogerbrugge, N

2012-06-01

According to the Dutch Guideline on Hereditary Colorectal Cancer published in 2008, patients with recently diagnosed colorectal cancer (CRC) should undergo microsatellite instability (MSI) testing by a pathologist immediately after tumour resection if they are younger than 50 years, or if a second CRC has been diagnosed before the age of 70 years, owing to the high risk of Lynch syndrome (MIPA). The aim of the present MIPAPS study was to investigate general distress and cancer-specific distress following MSI testing. From March 2007 to September 2009, 400 patients who had been tested for MSI after newly diagnosed CRC were recruited from 30 Dutch hospitals. Levels of general distress (SCL-90) and cancer-specific distress (IES) were assessed immediately after MSI result disclosure (T1) and 6 months later (T2). Response rates were 23/77 (30%) in the MSI-positive patients and 58/323 (18%) in the MSI-negative patients. Levels of general distress and cancer-specific distress were moderate. In the MSI-positive group, 27% of the patients had high general distress at T1 versus 18% at T2 (p = 0.5), whereas in the MSI-negative group, these percentage were 14 and 18% (p = 0.6), respectively. At T1 and T2, cancer-specific distress rates in the MSI-positive group and MSI-negative group were 39 versus 27% (p = 0.3) and 38 versus 36% (p = 1.0), respectively. High levels of general distress were correlated with female gender, low social support and high perceived cancer risk. Moderate levels of distress were observed after MSI testing, similar to those found in other patients diagnosed with CRC. Immediately after result disclosure, high cancer-specific distress was observed in 40% of the MSI-positive patients.

[Opsoclonus-myoclonus syndrome in a 2 year old boy with prenatally diagnosed retroperitoneal tumour].

PubMed

Jamroz, Ewa; Głuszkiewicz, Ewa; Madziara, Wojciech; Kiełtyka, Aleksandra

2011-01-01

Opsoclonus-myoclonus syndrome, also named Myoclonic Encephalopathy of Infants, Opsoclonus- Myoclonus Ataxia, Dancing Eyes - Dancing Feet Syndrome, Dancing Eyes Syndrome, Kinsbourne syndrome, is a rare, paraneoplastic or possibly post-viral chronic neurological disorder. The age of presentation ranges from 6 months to 3 years. In 50% of affected children the syndrome is associated with an underlying occult or clinically apparent neuroblastoma. In most patients the tumour is localized, small and well differentiated, with no NMYC gene copy number amplification. The syndrome may also occur after tumour resection or at relapse. The opsoclonus-myoclonus syndrome can occur in children without neuroblastoma, in such idiopathiccases, the onset of neurological symptoms is related to infection. It is assumed, that in idiopathic cases the syndrome could have developed in the course of neuroblastoma which had undergone a complete spontaneous regression. The most characteristic clinical features of opsoclonus-myoclonus syndrome are: opsoclonus, myoclonus, ataxia, irritability, mutism and sleep disturbances. The disease course is usually long-term with episodes of remission and relapses. Approximately 80% of children with opsoclonus-myoclonus syndrome suffer from mild to severe neurological handicaps, mainly cognitive impairment. The authors present a 2-year old boy with opsoclonus-myoclonus syndrome preceded by involution of prenatally documented retroperitoneal area tumour.

Combined Alport syndrome and Klinefelter syndrome.

PubMed

Nishida, Masashi; Hashimoto, Fusako; Kaito, Hiroshi; Nozu, Kandai; Iijima, Kazumoto; Asada, Dai; Hamaoka, Kenji

2016-02-01

To date, there have been a very limited number of case reports on combined Alport syndrome (AS) and Klinefelter syndrome (KS). We herein describe the case of a 9-month-old boy diagnosed with concomitant AS and KS. KS was detected on chromosomal analysis of the amniotic fluid, and hematuria/proteinuria was identified in urinary screening at 6 months of age. Renal biopsy indicated AS, with complete deficit of the α5 chain of type IV collagen in the glomerular basement membranes. On genetic analysis for AS, de novo homozygote mutation (c.3605-2a > c) was seen in the gene encoding α5 chain of type IV collagen (COL4A5) on the X chromosomes of maternal origin. This is the first case report of combined AS and KS diagnosed during infancy, and it indicates the need to consider the concurrent existence of these two disorders in infants with urine abnormalities, even in the absence of a family history. © 2015 Japan Pediatric Society.

Taxonomic notes and description of the male of Xenochlora nigrofemorata (Smith, 1879) (Hymenoptera: Apidae: Halictinae).

PubMed

Santos, Leandro M; Melo, Gabriel A R

2013-01-01

The present work describes for the first time the male of the bee genus Xenochlora Engel, Brooks & Yanega, 1997. The male of X. nigrofemorata (Smith, 1879) is described and illustrated. Additionally, Megalopta opacicollis Friese, 1926 is placed as a junior synonym of X. nigrofemorata (Smith, 1879).

First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview.

PubMed

Nijim, Yousif; Adawi, Amin; Bisharat, Bishara; Bowirrat, Abdalla

2016-01-01

Smith-Magenis syndrome (SMS0) is a complex and rare genetic multisystem disorder characterized by a variable pattern of cognitive deficits accompanied by a1 distinctive behavioral phenotype. SMS is characterized by subtle facial dysmorphology, short stature, sleep disturbances, and neurobehavioral abnormalities. Little is known about the manifestation of his unique case among Arab population and its strategic treatment.This study comes to present a case of SMS in an Arab newborn male who was born in spontaneous delivery on June 29, 2015, with tachypnea, tracheomalacia, and mild hypotonia. The newborn was admitted on the Neonatal Intensive Care Unit (NICU), and various laboratory examinations and clinical examinations were performed.Throughout his hospitalization, feeding difficulties appeared and thus a peripheral venous catheter was inserted in the left leg.After 22 days of follow-up and hospitalizations, the patient status improved and he was discharged with recommendations to be in follow up in pediatric outpatient clinic.However, notwithstanding the different investigations, intermittent tachypnea continued at a rate of 72 to 77 breaths/min. Search for diagnosis begin intensively owing to persistence of tachypnia, mild hypotonia, feeding difficulties, sleep disturbances, and mild dysmorphic facial features. Suspicions of genetic abnormalities were considered and blood samples were sent for chromosome analysis and for fluorescent in situ hybridization (FISH) testing.The genetic results revealed the following: cytogenetic findings: 46, XY, del(17)(p11.2) and the FISH results: del(17)(p11.2p11.2) (D17S29). The chromosome diagnosis revealed an interstitial deletion of 17p11.2 and the diagnosis of the SMS was confirmed.Accurate clinical diagnosis, therapeutic assessments and a holistic management plans, including multidiscipline therapeutic strategies, periodic neuro-developmental assessments, and an early intervention programs, are recommended

[Psychosomatic aspects of dry eye syndrome].

PubMed

Nepp, J

2016-02-01

Patients with dry eye syndrome are known to suffer from anxiety and depression. Analysis of psychological disorders in therapy-resistant dry eye syndrome. A retrospective analysis of the training for interactive psychiatric screening (TRIPS) questionnaire from 110 patients with therapy-resistant dry eye syndrome was carried out. The results of the questionnaire allow the diagnosis of psychological disorders and vegetative disorders. Patients were divided into groups with anxiety, depression, mixed diagnoses, vegetative disorders and no diagnosis. A sicca score was used for assessment of dryness comprising the Schirmer test, measurement of tear meniscus, break up time, lipid layer thickness, the use of fluorescein and rose bengal staining tests and the subjective visual analogue scale. The diagnosis of dry eye syndrome was compared with the psychological disorders of anxiety and depression. Of the patients 52.7 % had psychological disorders with anxiety in 21.8 %, depression in 15.3 %, mixed diagnoses in 14.5 %, dystonia in 25.4 % and in 22.7 % no psychological disorders were diagnosed. General anxiety was frequent and panic disorders were often associated with other kinds of anxiety. Severe depression, such as bipolar disorder was rare. Dry eye scores were highest in the mixed group (0.59), and lowest in the group with mild anxiety (0.38). No single sicca phase disorder could be correlated with any of the psychological diagnoses. Patients with therapy-resistant dry eye syndrome often suffer from anxiety and depression. The psychological stress acts on the nervous system to suppress lacrimal gland function. Further investigation of the correlation between the lacrimal tear film phase and psychological disorders is recommended. Knowledge of personality disorders may allow psychological support that would improve the treatment options for dry eye syndrome.

18. Photocopy of print (Original in Smith's History of Delaware ...

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

18. Photocopy of print (Original in Smith's History of Delaware County, Pennsylvania) MAIN AND EAST ELEVATIONS - Caleb Pusey House, 15 Race Street (Landingford Plantation), Upland, Delaware County, PA

[Case of posterior reversible encephalopathy syndrome caused by Fisher syndrome].

PubMed

Yokoi, Katsunori; Ando, Tetsuo; Kawakami, Osamu

2018-01-26

This report presents a case of a 71-year-old woman with Fisher syndrome who had posterior reversible encephalopathy syndrome (PRES) before the initiation of intravenous immunoglobulin (IVIg) treatment. She had symptoms of common cold 2 weeks before the onset of PRES. On the day of the onset, she began to stagger while walking. On day 2, she developed hypertension, vision impairment, and limb weakness and was admitted to the hospital. On day 3, she was provided steroid pulse therapy. On day 4, she developed convulsions and right imperfection single paralysis and was transferred to the our hospital. During the transfer, the patient was conscious. Her blood pressure was high at 198/107 mmHg. She had mild weakness in her limbs and face, light perception in both eyes, dilation of both pupils, total external ophthalmoplegia, no tendon reflexes, and limb and trunk ataxia. We diagnosed PRES because of the high signal intensities observed on T 2 -weighted MRI on both sides of the parietal and occipital lobes. We also diagnosed Fisher syndrome because of a positive anti-GQ1b immunoglobulin G antibody test and albuminocytologic dissociation in the cerebrospinal fluid. PRES showed prompt improvement with antihypertensive therapy, whereas Fisher syndrome slowly improved over a course of 2 months. This case is the first report of PRES without IVIg suggesting that Fisher syndrome induces hypertension and causes PRES.

Durham Smith Vest-Over-Pant Technique: Simple Procedure for a Complex Problem (Post-Hypospadias Repair Fistula).

PubMed

Gite, Venkat A; Patil, Saurabh R; Bote, Sachin M; Siddiqui, Mohd Ayub Karam Nabi; Nikose, Jayant V; Kandi, Anitha J

2017-01-01

Urethrocutaneous fistula, which occurs after hypospadias surgery, is often a baffling problem and its treatment is challenging. The study aimed to evaluate the results of the simple procedure (Durham Smith vest-over-pant technique) for this complex problem (post-hypospadias repair fistula). During the period from 2011 to 2015, 20 patients with post-hypospadias repair fistulas underwent Durham Smith repair. Common age group was between 5 and 12 years. Site wise distribution of fistula was coronal 2 (10%), distal penile 7 (35%), mid-penile 7 (35%), and proximal-penile 4 (20%). Out of 20 patients, 15 had fistula of size <5 mm (75%) and 5 patients had fistula of size >5 mm (25%). All cases were repaired with Durham Smith vest-over-pant technique by a single surgeon. In case of multiple fistulas adjacent to each other, all fistulas were joined to form single fistula and repaired. We have successfully repaired all post-hypospadias surgery urethrocutaneous fistulas using the technique described by Durham Smith with 100% success rate. Durham Smith vest-over-pant technique is a simple solution for a complex problem (post hypospadias surgery penile fistulas) in properly selected patients. © 2017 S. Karger AG, Basel.

Advances in Tourette syndrome: diagnoses and treatment.

PubMed

Serajee, Fatema J; Mahbubul Huq, A H M

2015-06-01

Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by multiple motor tics and at least one vocal or phonic tic, and often one or more comorbid psychiatric disorders. Premonitory sensory urges before tic execution and desire for "just-right" perception are central features. The pathophysiology involves cortico-striato-thalamo-cortical circuits and possibly dopaminergic system. TS is considered a genetic disorder but the genetics is complex and likely involves rare mutations, common variants, and environmental and epigenetic factors. Treatment is multimodal and includes education and reassurance, behavioral interventions, pharmacologic, and rarely, surgical interventions. Copyright © 2015 Elsevier Inc. All rights reserved.

Adam Smith and the Teaching of English Literature.

ERIC Educational Resources Information Center

Court, Franklin E.

1985-01-01

Adam Smith used selections from English literature in his classroom during the eighteenth century because he believed that vernacular literature could provide a ready context for the teaching of ideological, social, and moral lessons. He believed that higher education should prepare students for the real business of the real world. (RM)

The Garrett Lee Smith Memorial Suicide Prevention Program

ERIC Educational Resources Information Center

Goldston, David B.; Walrath, Christine M.; McKeon, Richard; Puddy, Richard W.; Lubell, Keri M.; Potter, Lloyd B.; Rodi, Michael S.

2010-01-01

In response to calls for greater efforts to reduce youth suicide, the Garrett Lee Smith (GLS) Memorial Act has provided funding for 68 state, territory, and tribal community grants, and 74 college campus grants for suicide prevention efforts. Suicide prevention activities supported by GLS grantees have included education, training programs…

STS-82 M.S. Steven Smith in White Room

NASA Technical Reports Server (NTRS)

1997-01-01

STS-82 Mission Specialist Steven L. Smith prepares to enter the Space Shuttle Discovery at Launch Pad 39A, with the assistance of white room closeout crew members Dave Law, in front; Carlous Gillis, at left; and James Davis.

Gorlin-Goltz syndrome.

PubMed

Jawa, Deepti Singh; Sircar, Keya; Somani, Rani; Grover, Neeraj; Jaidka, Shipra; Singh, Sanjeet

2009-07-01

Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital.

The education and medical practice of Dr. James McCune Smith (1813-1865), first black American to hold a medical degree.

PubMed Central

Morgan, Thomas M.

2003-01-01

James McCune Smith (1813-1865)--first black American to obtain a medical degree, prominent abolitionist and suffragist, compassionate physician, prolific writer, and public intellectual--has been relatively neglected by historians of medicine. No biography of Smith exists to this day, though he has been the subject of several essays. Born, in his own words, "the son of a self-emancipated bond-woman," and denied admission to colleges in the United States, his native land, Smith earned medical, master's, and baccalaureate degrees at Glasgow University in Scotland. On his return to New York City in 1837, Smith became the first black physician to publish articles in US medical journals. Smith was broadly involved in the anti-slavery and suffrage movements, contributing to and editing abolitionist newspapers and serving as an officer of many organizations for the improvement of social conditions in the black community. In his scientific writings Smith debunked the racial theories in Thomas Jefferson's Notes on the State of Virginia, refuted phrenology and homeopathy, and responded with a forceful statistical critique to the racially biased US Census of 1840. Frederick Douglass, Gerrit Smith, and John Brown personally collaborated with James McCune Smith in the fight for black freedom. As the learned physician-scholar of the abolition movement, Smith was instrumental in making the overthrow of slavery credible and successful. Images Figure 1 PMID:12911258

75 FR 16099 - Mr. Jerry McMillan and Ms. Christine Smith; Notice of Termination of License by Implied Surrender...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-03-31

... McMillan and Ms. Christine Smith; Notice of Termination of License by Implied Surrender and Soliciting... surrender b. Project No.: P-9907-018 c. Licensees: Mr. Jerry McMillan and Ms. Christine Smith d. Name of... ] 62,282). The project was transferred to Mr. Jerry McMillan and Ms. Christine Smith by order on...

78 FR 16182 - Changes To Implement the First Inventor To File Provisions of the Leahy-Smith America Invents Act...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-03-14

...-2012-0015] RIN 0651-AC77 Changes To Implement the First Inventor To File Provisions of the Leahy-Smith... inventor to file provisions of the Leahy-Smith America Invents Act (AIA) (First Inventor to File Final Rule... provisions of the AIA. See Changes To Implement the First Inventor To File Provisions of the Leahy-Smith...

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.

Breeding productivity of Smith Island black ducks

USGS Publications Warehouse

Haramis, G.M.; Jorde, Dennis G.; Olsen, Glenn H.; Stotts, D.B.; Harrison, M.K.; Perry, M.C.

2002-01-01

We investigated the breeding performance of American black ducks (Anas rubripes) on Smith Island, Chesapeake Bay, to improve our understanding of island black duck breeding ecology and to make management recommendations to enhance productivity. During 1995-96, we implanted 56 female black ducks with 20-g radio transmitters and tracked 35 of the individuals through the breeding season to locate nests, determine nest fate, and identify brood habitat. We also increased preseason banding efforts and compared capture characteristics over 12 years with those from the Deal Island Wildlife Management Area, a banding site on the mainland of Tangier Sound. A low rate of nesting (37%), lack of renesting, and poor hatching success (31%) indicated that island salt marsh habitats present a harsh environment for breeding black ducks. Black ducks located 11 of 13 nests (85%) in black needlerush (Juncus roemerianus) marsh where they were vulnerable to flooding from extreme tides and to egg predators. No nests were found on forested tree hammocks, a feature that distinguishes Smith Island from nearby South Marsh and Bloodsworth Islands. Nest predators included red foxes (Vulpes vulpes), herring gulls (Larus argentams), fish crows (Corvus ossifragus), and, potentially, Norway rats (Rattus norvegicus). Unlike mainland red foxes, foxes radio tracked on Smith Island were found to be capable swimmers and effective low marsh predators. We found shoreline meadows of widgeon grass (Ruppia maritima) to be important foraging sites for black ducks and suspected that the virtual absence of fresh water in this high salinity environment (1217+ ppt) to incur some cost in terms of growth and survival of ducklings. Preseason bandings revealed a high proportion of banded adults and a strong positive correlation in age ratios with the Deal Island banding site. This latter finding strongly suggests a negative universal effect of storm tides on nest success for Tangier Sound black ducks. Management to

Denial and Defensiveness in the Place of Fact and Reason: Rejoinder to Smith and Lovass.

ERIC Educational Resources Information Center

Gresham, Frank M.; MacMillan, Donald L.

1997-01-01

Responds to "The UCLA Young Autism Project: A Reply to Gresham and MacMillan" (Smith and Lovaas), which criticized a review questioning the effectiveness of an intervention for children with autism. The Smith and Lovass article is described as defensive, factually inaccurate, and as not adequately addressing the question of external validity.…

Unconscious Odour Conditioning 25 Years Later: Revisiting and Extending "Kirk-Smith, Van Toller and Dodd"

ERIC Educational Resources Information Center

Zucco, Gesualdo M.; Paolini, Michela; Schaal, Benoist

2009-01-01

The pioneering work by Kirk-Smith, Van Toller, and Dodd [Kirk-Smith, M. D., Van Toller, C., & Dodd, G. H. (1983). "Unconscious odour conditioning in human subjects." "Biological Psychology," 17, 221-231], established that an unnoticed odorant paired with an emotionally meaningful task can influence mood and attitudes when the odorant alone is…

Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice.

PubMed

Wang, Jiapeng; Li, Zhaomin; He, Yongzheng; Pan, Feng; Chen, Shi; Rhodes, Steven; Nguyen, Lihn; Yuan, Jin; Jiang, Li; Yang, Xianlin; Weeks, Ophelia; Liu, Ziyue; Zhou, Jiehao; Ni, Hongyu; Cai, Chen-Leng; Xu, Mingjiang; Yang, Feng-Chun

2014-01-23

ASXL1 is mutated/deleted with high frequencies in multiple forms of myeloid malignancies, and its alterations are associated with poor prognosis. De novo ASXL1 mutations cause Bohring-Opitz syndrome characterized by multiple congenital malformations. We show that Asxl1 deletion in mice led to developmental abnormalities including dwarfism, anophthalmia, and 80% embryonic lethality. Surviving Asxl1(-/-) mice lived for up to 42 days and developed features of myelodysplastic syndrome (MDS), including dysplastic neutrophils and multiple lineage cytopenia. Asxl1(-/-) mice had a reduced hematopoietic stem cell (HSC) pool, and Asxl1(-/-) HSCs exhibited decreased hematopoietic repopulating capacity, with skewed cell differentiation favoring granulocytic lineage. Asxl1(+/-) mice also developed mild MDS-like disease, which could progress to MDS/myeloproliferative neoplasm, demonstrating a haploinsufficient effect of Asxl1 in the pathogenesis of myeloid malignancies. Asxl1 loss led to an increased apoptosis and mitosis in Lineage(-)c-Kit(+) (Lin(-)c-Kit(+)) cells, consistent with human MDS. Furthermore, Asxl1(-/-) Lin(-)c-Kit(+) cells exhibited decreased global levels of H3K27me3 and H3K4me3 and altered expression of genes regulating apoptosis (Bcl2, Bcl2l12, Bcl2l13). Collectively, we report a novel ASXL1 murine model that recapitulates human myeloid malignancies, implying that Asxl1 functions as a tumor suppressor to maintain hematopoietic cell homeostasis. Future work is necessary to clarify the contribution of microenvironment to the hematopoietic phenotypes observed in the constitutional Asxl1(-/-) mice.

Gorlin-goltz syndrome.

PubMed

Mehta, Dn; Raval, N; Patadiya, H; Tarsariya, V

2014-03-01

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome.

Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.

PubMed

Hernández-Rodríguez, José; Ruíz-Ortiz, Estíbaliz; Tomé, Adrià; Espinosa, Gerard; González-Roca, Eva; Mensa-Vilaró, Anna; Prieto-González, Sergio; Espígol-Frigolé, Georgina; Mensa, Josep; Cardellach, Francesc; Grau, Josep M; Cid, Maria C; Yagüe, Jordi; Aróstegui, Juan I; Cervera, Ricard

2016-01-01

Autoinflammatory diseases (AID) are usually diagnosed during the pediatric age. However, adult-onset disease or diagnosis during adulthood has been occasionally described. To assess the clinical and genetic characteristics of adult patients diagnosed with an AID in an adult referral center for AID. We retrospectively evaluated clinical and genetic features of adult patients (≥16 years) diagnosed with an AID or referred after AID diagnosis to the Clinical Unit of AID, at the Department of Autoimmune Diseases, Hospital Clínic of Barcelona, from 2008 to 2014. During the study period, a genetic study for suspected AID was requested to 90 patients at the Department of Autoimmune Diseases. A final diagnosis of monogenic AID was achieved in 17 patients (19% of patients tested). Five additional cases were diagnosed with periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome and 10 patients with AID were referred from other adult departments. Finally, a total of 32 patients with AID were finally diagnosed or monitored in our Clinical Unit. These included 12 (37.5%) familial Mediterranean fever, 6 (18.8%) tumour necrosis factor-receptor associated periodic syndrome, 8 (25%) cryopirin-associated periodic syndromes (Muckle-Wells syndrome [MWS] or overlap familial cold-associated periodic syndrome/MWS), 1 (3.1%) mevalonate kinase deficiency, and 5 (15.6%) PFAPA. Clinical evidence of disease-onset during childhood and adulthood was observed in 15 (47%) and 17 (53%) patients, respectively. Overall, the final diagnosis was obtained after a delay of a mean of 12 years (range 0-47 years). Compared to children, adult patients with AID in our series presented more frequently with non-severe manifestations and none of them developed amyloidosis during follow-up. Adult patients also carried higher proportion of low-penetrance mutations or polymorphisms and all genetic variants were presented in heterozygosis or as heterozygous compounds. Adult disease

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.

PubMed

Ogawa, Erika; Shimura, Masaru; Fushimi, Takuya; Tajika, Makiko; Ichimoto, Keiko; Matsunaga, Ayako; Tsuruoka, Tomoko; Ishige, Mika; Fuchigami, Tatsuo; Yamazaki, Taro; Mori, Masato; Kohda, Masakazu; Kishita, Yoshihito; Okazaki, Yasushi; Takahashi, Shori; Ohtake, Akira; Murayama, Kei

2017-09-01

Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy and early childhood. It is clinically diagnosed by typical manifestations and characteristic computed tomography (CT) or magnetic resonance imaging (MRI) studies. Unravelling mitochondrial respiratory chain (MRC) dysfunction behind LS is essential for deeper understanding of the disease, which may lead to the development of new therapies and cure. The aim of this study was to evaluate the clinical validity of various diagnostic tools in confirming MRC disorder in LS and Leigh-like syndrome (LL). The results of enzyme assays, molecular analysis, and cellular oxygen consumption rate (OCR) measurements were examined. Of 106 patients, 41 were biochemically and genetically verified, and 34 had reduced MRC activity but no causative mutations. Seven patients with normal MRC complex activities had mutations in the MT-ATP6 gene. Five further patients with normal activity in MRC were identified with causative mutations. Conversely, 12 out of 60 enzyme assays performed for genetically verified patients returned normal results. No biochemical or genetic background was confirmed for 19 patients. OCR was reduced in ten out of 19 patients with negative enzyme assay results. Inconsistent enzyme assay results between fibroblast and skeletal muscle biopsy samples were observed in 33% of 37 simultaneously analyzed cases. These data suggest that highest diagnostic rate is reached using a combined enzymatic and genetic approach, analyzing more than one type of biological materials where suitable. Microscale oxygraphy detected MRC impairment in 50% cases with no defect in MRC complex activities.

Wells syndrome and its relationship to Churg-Strauss syndrome.

PubMed

Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

2013-08-01

  Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

Class Size Revisited: Glass and Smith in Perspective.

ERIC Educational Resources Information Center

Hess, Fritz

Gene V. Glass and Mary Lee Smith claim in their report, "Meta-Analysis of Research on the Relationship of Class-Size and Achievement" (ED 168 129), that their integration of data from 80 previous studies through complex regression analysis techniques revealed a "clear and strong relationship" between decreases in class size and increases in…

Smith Assists in Superstorm Sandy Relief Efforts | Poster

Cancer.gov

By Cathy McClintock, Guest Writer It should have been routine by now for a 30-year volunteer firefighter/ emergency medical technician from Thurmont, Md., but it wasn’t. That first night, as Ross Smith, IT security, looked across the Hudson River from Jersey City, N.J., he saw an unusually dark New York skyline.

5. Historic American Buildings Survey Frances Rand Smith Collection California ...

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

5. Historic American Buildings Survey Frances Rand Smith Collection California Historical Society Original: After 1860's Re-photo: January 1940 FIRST FRAME CHURCH (LEFT) - Mission San Rafael Archangel, San Rafael, Marin County, CA

5. Historic American Buildings Survey, From J. Smith Futhey and ...

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

5. Historic American Buildings Survey, From J. Smith Futhey and Gilbert Cope, History of Chester County, Pennsylvania, 1881, page 234, EXTERIOR SKETCH, 1881. - Birmingham Friends Meetinghouse, Birmingham & Meetinghouse Roads, Birmingham, Chester County, PA

Defining and diagnosing irritable bowel syndrome.

PubMed

Schuster, M M

2001-07-01

Approximately 20% of the general population has irritable bowel syndrome (IBS). Although the majority of these individuals do not consult a physician, IBS accounts for 25% of visits to a gastroenterologist and up to 12% of visits to a primary care physician. Consequently, the direct and indirect costs associated with IBS are estimated at $8 billion annually. IBS symptoms, with no apparent structural pathology, include altered bowel habits, abdominal pain/discomfort, and bloating. The Rome II criteria, a standardized guideline for the diagnosis of IBS, contains in its definition abdominal pain or discomfort associated with altered bowel habits. Bloating may often be present. Three patient subgroups are defined according to the predominant bowel symptom: constipation, diarrhea, or alternating constipation and diarrhea. Hematology, fecal occult blood test, flexible sigmoidoscopy, and lactose intolerance evaluations are recommended for all patients demonstrating symptoms of IBS. When indicated, tests are recommended to rule out bacterial or parasitic infections, pelvic floor muscle dyssynergia, colonic inertia, peptic ulcer, or inflammatory bowel disease.

Dynamics of testosterone concentration in male steppe lemmings (Lagurus lagurus) in the reproductive cycle reflects the species-specific mating system.

PubMed

Potapova, O F; Potapov, M A; Kondratyuk, E Yu; Evsikov, V I

2016-05-01

In the blood of male steppe lemmings, relatively low background levels of testosterone were detected, this is characteristic of a monogamous species. A significant increase in testosterone level, more expressed in sexually active males, was observed at the initial stage of formation of reproductive couples. Apparently, in the future, the couple will exist in a stable relationship, and, hence, the maintenance of a high testosterone level becomes excessive. The decrease in, and the relative "normalization" of, the hormone level during the existence of the pair, including raising of the young, promotes higher expression of the male paternal care of the offspring at the species level.

Toxicological evaluation of two children diagnosed as Munchausen syndrome by proxy.

PubMed

Türkmen, Zeynep; Ziyalar, Neylan; Tari, Itir; Mercan, Selda; Kayiran, Sinan Mahir; Sener, Dicle; Cengiz, Salih; Akçakaya, Necla

2012-01-01

Munchausen syndrome by proxy is a kind of child abuse in which affected children are often hospitalized for long periods and endure repetitive, painful and expensive diagnostic attempts. We present herein two toxicologically confirmed cases of Munchausen syndrome by proxy. Case 1 is a 16-month-old male who had fever, peripheral cyanosis, tremor, and reported cardiac arrest. Symptoms recurred in the hospital when the mother administered fluids. Toxicology detected 3.5 ng/ml mercury (Hg) in the fluid and 9.4 microg Hg/g creatinine in the urine. Case 2 is a 14-year-old female who had irregular blood findings and multiple hospitalizations. Serum analysis detected warfarin. Both mothers were transferred to psychiatric care. Munchausen syndrome by proxy should be suspected when clinical/laboratory findings are negative, illness descriptions are inconsistent, and frequent hospitalization yields no diagnosis. Psychiatric evaluation and toxicological analysis are recommended.

Poland's syndrome and military personnel.

PubMed

Phaltankar, P M; Langdon, J; Clasper, J

2003-12-01

We describe three cases of undiagnosed Poland's syndrome in Army personnel and discuss their fitness according to the PULHHEEMS system. This syndrome has variable clinical features that include unilateral chest wall and upper limb abnormalities. The syndrome is not hereditary and is of unknown origin. If the syndrome was diagnosed prior to enlistment the potential recruit would normally be graded P8, and unfit to enlist. However, these individuals had managed to pass routine medical examination as well as successfully complete basic training. The suitability of continuation in the army of personnel with Poland's syndrome is discussed.

Corneal clouding in Alport syndrome.

PubMed

Herwig, Martina C; Eter, Nicole; Holz, Frank G; Loeffler, Karin U

2011-03-01

Alport syndrome is a hereditary basement membrane disease that typically involves the kidney, the cochlea, and the eyes. Characteristic ocular problems include posterior polymorphous corneal dystrophy, lenticonus, and dot-and-fleck retinopathy. A 48-year-old male patient with Alport syndrome presented with corneal and retinal changes. In 2003, he was diagnosed with posterior polymorphous corneal dystrophy and received a corneal transplant in his left eye in 2007 because of progressive deterioration in visual acuity. At this time, a lamellar macular hole was diagnosed in his right eye. The removed corneal button was examined by light and electron microscopy and by immunohistochemistry. Histology revealed not only endothelial changes but also a marked irregular thickening of the epithelial basement membrane and of Bowman layer. Alcian blue staining demonstrated an accumulation of mucopolysaccharides in the Bowman layer. The presented changes underline the great variation of ocular disorders related to Alport syndrome. To our knowledge, this is one of the first reports describing histologic corneal findings in Alport syndrome. Only a few cases with accumulation of mucopolysaccharides in the Bowman layer have been described previously, none of them being associated with Alport syndrome. Besides, anterior corneal alterations and corneal clouding seem to be uncommon in patients suffering from Alport syndrome.

10. Historic American Buildings Survey Frances Rand Smith Collection California ...

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

10. Historic American Buildings Survey Frances Rand Smith Collection California Historical Society Original: About 1890 Re-photo: January 1940 SECOND FRAME CHURCH REPLACING MISSION (1890) - Mission San Rafael Archangel, San Rafael, Marin County, CA

Incidence of fatigue symptoms and diagnoses presenting in UK primary care from 1990 to 2001.

PubMed

Gallagher, Arlene M; Thomas, Janice M; Hamilton, William T; White, Peter D

2004-12-01

Little is known about whether the incidence of symptoms of fatigue presented in primary care, and the consequent diagnoses made, change over time. The UK General Practice Research Database was used to investigate the annual incidence of both fatigue symptoms and diagnoses recorded in UK primary care from 1990 to 2001. The overall incidence of all fatigue diagnoses decreased from 87 per 100 000 patients in 1990 to 49 in 2001, a reduction of 44%, while postviral fatigue syndromes decreased from 81% of all fatigue diagnoses in 1990 to 60% in 2001. Chronic fatigue syndrome (CFS) and myalgic encephalomyelitis (ME) together increased from 9% to 26% of all fatigue diagnoses. The incidence of fibromyalgia increased from less than 1 per 100 000 to 35 per 100 000. In contrast, there was no consistent change in the incidence of all recorded symptoms of fatigue, with an average of 1503 per 100 000, equivalent to 1.5% per year. CFS/ME and fibromyalgia were rarely diagnosed in children and were uncommon in the elderly. All symptoms and diagnoses were more common in females than in males. The overall incidence of fatigue diagnoses in general has fallen, but the incidence rates of the specific diagnoses of CFS/ME and fibromyalgia have risen, against a background of little change in symptom reporting. This is likely to reflect fashions in diagnostic labelling rather than true changes in incidence.

Cecil Green receives Smith Medal

NASA Astrophysics Data System (ADS)

Press, Frank; Green, Cecil

The Waldo E. Smith Medal, which is awarded for extraordinary service to geophysics, was presented to Cecil H. Green at the 1994 AGU Fall Meeting Honors Ceremony on December 7, 1994 in San Francisco. The award citation and Green's response are given here.“It would take a book to do justice to Cecil Green's extraordinary contributions to the geophysics and electronics industries, to the training of scientists, physicians, and engineers, and to strengthening education and research institutions. In fact, such a book has been written about Cecil's multiple lives as engineer, geophysicist, cofounder of Texas Instruments, and partner with his wife, Ida, in international philanthropy.

[Münchausen syndrome by proxy].

PubMed

Scheuerman, Oded; Grinbaum, Iris; Garty, Ben Zion

2013-11-01

Münchausen syndrome by proxy (also known as factitious disorder by proxy) is a psychiatric disorder which consists of fabricating or inducing illness in a child, usually by his mother. The motivation for the perpetrator's behavior is receivng satisfaction from the investigations and treatments that the child receives and from the medical environment, as part of a unique mental disturbance. External incentives for the behavior (such as economic gain) are absent. During the last few years about 20 cases of Münchausen syndrome by proxy were diagnosed in our ward. We describe a few less typical cases of patients with Münchausen syndrome by proxy. In all cases the offender, the mother, had only secondary education and no medical background. The socioeconomic background was variable. Recognition of the syndrome and a high index of clinical suspicion are needed in order to diagnose the disorder. Suspicious signs and symptoms include prolonged and illogical course of disease, odd complications, exacerbation that appear just before discharge from the hospital and symptoms that occur only in the presence of a specific care giver. Münchausen syndrome by proxy is not very rare. It appears in all ethnic groups, socioeconomic status and educational backgrounds.

[The carpal tunnel syndrome in the oil toxic syndrome].

PubMed

Estirado De Cabo, E; Plaza Cano, M M; García De Aguinaga, M L; Fuertes Rodríguez, P; Ferrari Arroyo, M J; Izquierdo Martínez, M; Posada De La Paz, M

2002-02-01

The toxic oil syndrome (TOS) is an autoimmune disease caused by the ingestion of aniline-denatured rapeseed oil. The carpal tunnel syndrome (CTS) is an entrapment neuropathy due to the median nerve entrapment, which is associated with both occupational activities and autoimmune diseases. The objective of this work was to know the frequency and characteristics of CTS in TOS patients. Between December 1977 and July 2000, 744 TOS patients were evaluated. The inclusion criteria were: the clinical records for patients diagnosed between May 1981 and November 1997; and for patients diagnosed between December 1997 and July 2000, symptoms with the classical or likely pattern according to the Katz's hand diagram and one of the following findings: a) abnormal electromyogram, and b) hypalgesia in the median nerve territory and positive Tinel and/or Phalen signs. A total of 70 patients (63 women, 90%) were diagnosed; 48 of them had been diagnosed before 1997 and 22 subsequently. The mean age of patients was 47.6 (20-78) years. In 36 patients (51.4%), a bilateral CTS was present. Fifty-six patients (81.4%) had a diagnostic EMG, and 31 (44.2%) were obese, 13 (18.6%) diabetic, and 4 (6%) had hypothyroidism. Most of these cases (48; 68.6%) were housewives. TOS patients have a high frequency of CTS; therefore, this condition must be suspected in patients with associated obesity and diabetes mellitus.

37. BRIDGE 115, SMITH RIVER MIDDLE FORK OREGON STATE HIGHWAY ...

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

37. BRIDGE 1-15, SMITH RIVER MIDDLE FORK OREGON STATE HIGHWAY 199. JOSEPHINE COUNTY, OREGON. LOOKING SSW. - Redwood National & State Parks Roads, California coast from Crescent City to Trinidad, Crescent City, Del Norte County, CA

The Early Childhood Song Books of Eleanor Smith: Their Affinity with the Philosophy of Friedrich Froebel.

ERIC Educational Resources Information Center

Alper, Clifford D.

1980-01-01

Eleanor Smith (1858-1942), an outstanding composer of children's songs, was perhaps the most significant musician to embrace the philosophy of Friedrich Froebel (1782-1852), who founded the kindergarten in 1837 and consistently acknowledged and dignified children's natural capabilities and interests. Smith's songs still appear in published song…

Metabolic syndrome and insulin resistance in obese adolescents.

PubMed

Gobato, Amanda Oliva; Vasques, Ana Carolina J; Zambon, Mariana Porto; Barros Filho, Antonio de Azevedo; Hessel, Gabriel

2014-03-01

To verify the prevalence of metabolic syndrome and insulin resistance in obese adolescents and its relationship with different body composition indicators. A cross-sectional study comprising 79 adolescents aged ten to 18 years old. The assessed body composition indicators were: body mass index (BMI), body fat percentage, abdominal circumference, and subcutaneous fat. The metabolic syndrome was diagnosed according to the criteria proposed by Cook et al. The insulin resistance was determined by the Homeostasis Model Assessment for Insulin Resistance (HOMA-IR) index for values above 3.16. The analysis of ROC curves was used to assess the BMI and the abdominal circumference, aiming to identify the subjects with metabolic syndrome and insulin resistance. The cutoff point corresponded to the percentage above the reference value used to diagnose obesity. The metabolic syndrome was diagnosed in 45.5% of the patients and insulin resistance, in 29.1%. Insulin resistance showed association with HDL-cholesterol (p=0.032) and with metabolic syndrome (p=0.006). All body composition indicators were correlated with insulin resistance (p<0.01). In relation to the cutoff point evaluation, the values of 23.5 and 36.3% above the BMI reference point allowed the identification of insulin resistance and metabolic syndrome. The best cutoff point for abdominal circumference to identify insulin resistance was 40%. All body composition indicators, HDL-cholesterol and metabolic syndrome showed correlation with insulin resistance. The BMI was the most effective anthropometric indicator to identify insulin resistance.

What's in a Surname? Physique, Aptitude, and Sports Type Comparisons between Tailors and Smiths.

PubMed

Voracek, Martin; Rieder, Stephan; Stieger, Stefan; Swami, Viren

2015-01-01

Combined heredity of surnames and physique, coupled with past marriage patterns and trade-specific physical aptitude and selection factors, may have led to differential assortment of bodily characteristics among present-day men with specific trade-reflecting surnames (Tailor vs. Smith). Two studies reported here were partially consistent with this genetic-social hypothesis, first proposed by Bäumler (1980). Study 1 (N = 224) indicated significantly higher self-rated physical aptitude for prototypically strength-related activities (professions, sports, hobbies) in a random sample of Smiths. The counterpart effect (higher aptitude for dexterity-related activities among Tailors) was directionally correct, but not significant, and Tailor-Smith differences in basic physique variables were nil. Study 2 examined two large total-population-of-interest datasets (Austria/Germany combined, and UK: N = 7001 and 20,532) of men's national high-score lists for track-and-field events requiring different physiques. In both datasets, proportions of Smiths significantly increased from light-stature over medium-stature to heavy-stature sports categories. The predicted counterpart effect (decreasing prevalences of Tailors along these categories) was not supported. Related prior findings, the viability of possible alternative interpretations of the evidence (differential positive selection for trades and occupations, differential endogamy and assortative mating patterns, implicit egotism effects), and directions for further inquiry are discussed in conclusion.

Gorlin-Goltz Syndrome

PubMed Central

Mehta, DN; Raval, N; Patadiya, H; Tarsariya, V

2014-01-01

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome. PMID:24761254

One elevated bladder pressure measurement may not be enough to diagnose abdominal compartment syndrome.

PubMed

Young, Andrew Joseph; Weber, William; Wolfe, Luke; Ivatury, Rao R; Duane, Therese Marie

2013-02-01

Bladder pressure measurements (BPMs) are considered a key component in the diagnosis of abdominal compartment syndrome (ACS). The purpose of this observational review was to determine risk factors of ACS and associated mortality with particular focus on the role of BPM. A retrospective trauma registry and chart review was performed on trauma patients from January 2003 through December 2010. Comparisons were made between patients with and without ACS. There were 3172 patients included in the study of whom 46 had ACS. Patients with ACS were younger, more severely injured, with longer lengths of stay. Logistic regression determined Injury Severity Score (ISS) and urinary catheter days as independent predictors of ACS, whereas independent predictors of mortality included age, ISS, and ACS. Subset analysis demonstrated no association between BPM 20 mmHg or greater and diagnosis of ACS versus no ACS. Logistic regression indicated independent predictors of mortality were number of BPM 20 mmHg or greater and age. Patients with ACS are more severely injured with worse outcomes. An isolated BPM 20 mmHg or greater was not associated with ACS and may be inadequate to independently diagnose ACS. These findings suggest the need for repeat measurements with early intervention if they remain elevated in an effort to decrease mortality associated with ACS.

Vascular Plant Species of the Forest Ecology Research and Demonstration Area, Paul Smith's, New York

Treesearch

Gary L. Wade; Jonathan A. Myers; Cecilia R. Martin; Kathie Detmar; William, III Mator; Mark J. Twery; Mike Rechlin

2003-01-01

Five forest harvest methods (single-tree selection, group selection, two-age cut, shelterwood cut, and clearcut) are being demonstrated on 5-acre tracts near the Adirondack Park Agency?s Visitor Interpretation Center (VIC) at Paul Smith?s, New York. The tracts are part of the agency?s Forest Ecology Research and Demonstration Area. A primary goal is to show visitors...

STS-103 Mission Specialist Smith suits up before launch

NASA Technical Reports Server (NTRS)

1999-01-01

After donning his launch and entry suit, sts-103 Mission Specialist Steven L. Smith shows a positive attitude over the second launch attempt for Space Shuttle Discovery. The previous launch attempt on Dec. 17 was scrubbed about 8:52 p.m. due to numerous violations of weather launch commit criteria at KSC. Smith and other crew members Commander Curtis L. Brown Jr., Pilot Scott J. Kelly and Mission Specialists C. Michael Foale (Ph.D.), John M. Grunsfeld (Ph.D.), Claude Nicollier of Switzerland and Jean-Francois Clervoy of France are scheduled to lift off at 7:50 p.m. EST Dec. 19 on mission STS-103, servicing the Hubble Space Telescope. Objectives for the nearly eight-day mission include replacing gyroscopes and an old computer, installing another solid state recorder, and replacing damaged insulation in the telescope. Discovery is expected to land at KSC Monday, Dec. 27, at about 5:24 p.m. EST.

Serotonin syndrome versus neuroleptic malignant syndrome: a challenging clinical quandary

PubMed Central

Dosi, Rupal; Ambaliya, Annirudh; Joshi, Harshal; Patell, Rushad

2014-01-01

Serotonin syndrome and neuroleptic malignant syndrome are two drug toxidromes that have often overlapping and confusing clinical pictures. We report a case of a young man who presented with alteration of mental status, autonomic instability and neuromuscular hyperexcitability following ingestion of multiple psychiatric and antiepileptic medications. The patient satisfied criteria for serotonin syndrome and neuroleptic malignant syndrome, and based on the characteristic clinical features, laboratory findings and clinical course it was concluded that the patient had both toxidromes. The patient was managed with cyproheptadine and supportive measures, and recovered over the course of 3 weeks. A brief review of literature highlighting the diagnostic clues as well as the importance of recognising and distinguishing the often missed and confounding diagnoses follows. PMID:24957740

Hantavirus pulmonary syndrome in a postpartum woman.

PubMed

Murthy, Pooja R; Ucchil, Rajesh; Shah, Unmil; Chaudhari, Dipak

2016-09-01

Hantavirus infection, a rare disease diagnosed in India and carries a very high mortality. There are no reports of this infection in association with pregnancy or postpartum period in our country. We present a case of a 30-year-old female diagnosed to have hantavirus pulmonary syndrome in the postpartum period. We intend to create awareness about this infection and consider it in the differential diagnosis of patients presenting with acute respiratory distress syndrome and multiorgan dysfunction in association with pregnancy and postpartum period.

Acute venous thrombosis as complication and clue to diagnose a SAPHO syndrome case. A case report.

PubMed

Rosero, A; Ruano, R; Martin, M; Hidalgo, C; Garcia-Talavera, J

2013-01-01

This report concerns a male adult admitted for sternal and left arm pain, who was diagnosed and treated for acute deep venous thrombosis in the left subclavian and axillary veins. X-ray and a hybrid single photon emission tomography and computed tomography (SPECT-CT) scintigraphy scan revealed high intensity uptake in both sternoclavicular joints, which corresponded to hyperostosis, thereby suggesting a SAPHO syndrome. Upon reviewing the patient's medical history, we found dermatological pustulosis disease and an intermittent sternal chest pain untreated since 10 years ago. In the biochemical study we found erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) elevation, hyperglobulinemia, and mild anaemia. Initial treatment included nonsteroidal anti-inflammatory drugs (NSAIDs) with low response, which then changed to methotrexate, sulfasalazine, and prednisone. The patient's pain was controlled almost completely in 10 months. A control bone scan revealed a marked decrease in intensity of bone deposits according to clinical response. To our knowledge, there are only a few cases of SAPHO and thrombosis and none are followed up with a bone SPECT-CT scan.

GIANT CELL AORTITIS DIAGNOSED WITH PET/CT - PARANEOPLASTIC SYNDROME?

PubMed

Bakula, Marija; Cerovec, Mislav; Mayer, Miroslav; Huić, Dražen; Anić, Branimir

2016-05-01

Vasculitides are heterogenic group of autoimmune connective tissue diseases which often present difficulties in early diagnosing. Giant cell arteritis is vasculitis of large and medium arteries. It predominantly presents with symptoms of affection of the external carotid artery branches. Furthermore, the only symptoms can be constitutional. In clinical practice, vasculitides are sometimes considered as paraneoplastic, but no definite association with malignancies has been established and the mechanisms are still debated. The gold standard for diagnosing giant cell arteritis is a positive temporal artery biopsy, but the results can often be false negative. Additionally, more than half of the patients have aorta and its main branches affected. Considering aforementioned, imaging studies are essential in confirming large-vessel vasculitis, amongst which is highly sensitive PET/CT. We present the case of a 70-year-old female patient with constitutional symptoms and elevated sedimentation rate. After extensive diagnostic tests, she was admitted to our Rheumatology unit. Aortitis of the abdominal aorta has been confirmed by PET/CT and after the introduction of glucocorticoids the disease soon went into clinical and laboratory remission. Shortly after aortitis has been diagnosed, lung carcinoma was revealed of which the patient died. At the time of the comprehensive diagnostics, there was no reasonable doubt for underlying malignoma. To the best of our knowledge, there are no recent publications concerning giant cell arteritis and neoplastic processes in the context of up-to-date non-invasive diagnostic methods (i.e. PET/CT). In the light of previous research results, we underline that the sensitivity of PET/CT is not satisfactory when estimating cancer dissemination in non-enlarged lymph nodes and that its value can at times be overestimated.

Pharmacological Cognitive Enhancers: Comment on Smith and Farah (2011)

ERIC Educational Resources Information Center

Elliott, Glen R.; Elliott, Mark D.

2011-01-01

Smith and Farah (2011) provided a thought-provoking and perhaps deliberately provocative literature review of the use of stimulants to improve cognitive functioning in humans. They addressed the apparently increasing willingness of individuals mostly in the United States to use stimulants for this purpose and then summarized published literature…

Crowned dens syndrome diagnosed on ¹⁸F-FDG PET/CT.

PubMed

Monet, Antoine; Massonnat, Richard; Merino, Bertrand; Riviere, Annalisa; Richez, Christophe

2014-12-01

An 87-year-old woman with corticosteroid-resistant polymyalgia rheumatica underwent ¹⁸F-FDG PET/CT for suspected giant cell arteritis or neoplastic disease. FDG uptake in the immediate vicinity of the odontoid process, with a crownlike calcification, was identified on the CT scan on the posterior side of the dens, thus confirming the diagnosis of crowned dens syndrome. Because this rare syndrome is frequently misdiagnosed, nuclear physicians should be aware of the signs and symptoms of this condition, which may call for the use of PET/CT imagery.

Back to the Future with Patty Smith Hill

ERIC Educational Resources Information Center

Crawford, Patricia A.

2017-01-01

Generations after her passing, Patty Smith Hill (1868-1946) remains a towering figure in the world of early childhood education. Her words continue to offer insight, not only for those who work with young children, but also for those who help to prepare the teachers of young children for the important work they do--for those who both engage in and…

8. Historic American Buildings Survey Frances Rand Smith Collection California ...

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

8. Historic American Buildings Survey Frances Rand Smith Collection California Historical Society Original: 1870's Re-photo: January, 1940 FIRST FRAME CHURCH (LEFT), OLD MARIN COUNTY COURT HOUSE (CENTER) - Mission San Rafael Archangel, San Rafael, Marin County, CA

BATH. VIEW FACING NORTH Camp H.M. Smith and Navy ...

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

BATH. VIEW FACING NORTH - Camp H.M. Smith and Navy Public Works Center Manana Title VII (Capehart) Housing, Four-Bedroom, Single-Family Type 10, Birch Circle, Elm Drive, Elm Circle, and Date Drive, Pearl City, Honolulu County, HI

Parinaud «plus» syndrome in a patient with dysgerminoma.

PubMed

Burgueño-Montañés, C; Santalla-Castro, C; Peña-Suárez, J

2016-07-01

A 33-year-old male diagnosed with Parinaud's syndrome, exotropia and post-papillary oedema optic atrophy in his left eye. A pineal germinoma was diagnosed after performing neuroimaging scans and a stereotactic biopsy. He was treated with chemotherapy and radiotherapy, showing a complete pathological response. The Parinaud's syndrome persists one year after diagnosis and the patient has refused to have strabismus surgery. Parinaud's syndrome consists of a supranuclear vertical gaze palsy resulting from damage to the midbrain tectum. The involvement of adjacent structures leads to the «Parinaud-plus» syndrome. When a Parinaud's syndrome is accompanied by diplopia («Parinaud-plus» syndrome), extension of the injury into adjacent areas must be considered. Copyright © 2016 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

Defenses and morality: Adam Smith, Sigmund Freud, and contemporary psychoanalysis.

PubMed

Gabrinetti, Paul A; Özler, Sule

2014-10-01

In this paper we follow the development and transmission of moral learning from Adam Smith's impartial spectator to Sigmund Freud's superego and then to contemporary psychoanalysis. We argue that defenses are an integral component in the acquisition of any moral system. Elaborating on this argument, we assert that there is a progression from defensive systems that are "closed" to defensive systems that are "open," as defined in a recent work by Novick and Novick. The former system is "static, avoids reality, and is characterized by power dynamics, sadomasochism, and omnipotent defense." The latter, on the other hand, is a system that allows for "joy, creativity, spontaneity, love and it is attuned to reality." Furthermore, while Smith and Freud's systems are more one-person systems of defense, contemporary psychoanalysis has moved to more of a two-person system.

Seizures in Fragile X Syndrome: Characteristics and Comorbid Diagnoses

ERIC Educational Resources Information Center

Berry-Kravis, Elizabeth; Raspa, Melissa; Loggin-Hester, Lisa; Bishop, Ellen; Holiday, David; Bailey, Donald B., Jr.

2010-01-01

A national survey of caregivers of individuals with fragile X syndrome addressed characteristics of epilepsy and co-occurring conditions. Of the 1,394 individuals (1,090 males and 304 females) with the full mutation, 14% of males and 6% of females reported seizures. Seizures were more often partial, began between ages 4 and 10 years, and were…

Cushing's syndrome in pregnancy.

PubMed

Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

2015-02-01

Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

Using Nuclear Medicine Imaging Wisely in Diagnosing Infectious Diseases

PubMed Central

Censullo, Andrea

2017-01-01

Abstract In recent years, there has been an increasing emphasis on efficient and accurate diagnostic testing, exemplified by the American Board of Internal Medicine’s “Choosing Wisely” campaign. Nuclear imaging studies can provide early and accurate diagnoses of many infectious disease syndromes, particularly in complex cases where the differential remains broad. This review paper offers clinicians a rational, evidence-based guide to approaching nuclear medicine tests, using an example case of methicillin-sensitive Staphylococcus aureus (MSSA) bacteremia in a patient with multiple potential sources. Fluorodeoxyglucose-positron emission tomography (FDG-PET) with computed tomography (CT) and sulfur colloid imaging with tagged white blood cell (WBC) scanning offer the most promise in facilitating rapid and accurate diagnoses of endovascular graft infections, vertebral osteomyelitis (V-OM), diabetic foot infections, and prosthetic joint infections (PJIs). However, radiologists at different institutions may have varying degrees of expertise with these modalities. Regardless, infectious disease consultants would benefit from knowing what nuclear medicine tests to order when considering patients with complex infectious disease syndromes. PMID:28480283

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

PubMed

Shashi, Vandana; Pena, Loren D M; Kim, Katherine; Burton, Barbara; Hempel, Maja; Schoch, Kelly; Walkiewicz, Magdalena; McLaughlin, Heather M; Cho, Megan; Stong, Nicholas; Hickey, Scott E; Shuss, Christine M; Freemark, Michael S; Bellet, Jane S; Keels, Martha Ann; Bonner, Melanie J; El-Dairi, Maysantoine; Butler, Megan; Kranz, Peter G; Stumpel, Constance T R M; Klinkenberg, Sylvia; Oberndorff, Karin; Alawi, Malik; Santer, Rene; Petrovski, Slavé; Kuismin, Outi; Korpi-Heikkilä, Satu; Pietilainen, Olli; Aarno, Palotie; Kurki, Mitja I; Hoischen, Alexander; Need, Anna C; Goldstein, David B; Kortüm, Fanny

2016-10-06

The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe intellectual disability and dysmorphic features. ASXL2 has not yet been associated with a human Mendelian disorder. In this study, we performed whole-exome sequencing in six unrelated probands with developmental delay, macrocephaly, and dysmorphic features. All six had de novo truncating variants in ASXL2. A careful review enabled the recognition of a specific phenotype consisting of macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties, hypotonia, and developmental disabilities. Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features that distinguish the ASXL2-associated condition from ASXL1- and ASXL3-related disorders are macrocephaly, absence of growth retardation, and more variability in the degree of intellectual disabilities. We were also able to demonstrate with mRNA studies that these variants are likely to exert a dominant-negative effect, given that both alleles are expressed in blood and the mutated ASXL2 transcripts escape nonsense-mediated decay. In conclusion, de novo truncating variants in ASXL2 underlie a neurodevelopmental syndrome with a clinically recognizable phenotype. This report expands the germline disorders that are linked to the ASXL genes. Copyright © 2016. Published by Elsevier Inc.

DETAIL OF WESTINGHOUSE AND B. MORGAN SMITH NAMEPLATES ON ELECTRIC ...

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

DETAIL OF WESTINGHOUSE AND B. MORGAN SMITH NAMEPLATES ON ELECTRIC GENERATOR IN UPPER LEVEL OF HYDROELECTRIC POWER HOUSE - St. Lucie Canal, Lock No. 1, Hydroelectric Power House, St. Lucie, Cross State Canal, Okeechobee Intracoastal Waterway, Stuart, Martin County, FL

BEDROOM 2. VIEW FACING EAST Camp H.M. Smith and ...

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

BEDROOM 2. VIEW FACING EAST - Camp H.M. Smith and Navy Public Works Center Manana Title VII (Capehart) Housing, Three-Bedroom Single-Family Type 7, Birch Circle, Elm Drive, Elm Circle, and Date Drive, Pearl City, Honolulu County, HI

BEDROOM 3. VIEW FACING EAST Camp H.M. Smith and ...

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

BEDROOM 3. VIEW FACING EAST - Camp H.M. Smith and Navy Public Works Center Manana Title VII (Capehart) Housing, Four-Bedroom, Single-Family Type 10, Birch Circle, Elm Drive, Elm Circle, and Date Drive, Pearl City, Honolulu County, HI

MASTER BEDROOM. VIEW FACING NORTH Camp H.M. Smith and ...

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

MASTER BEDROOM. VIEW FACING NORTH - Camp H.M. Smith and Navy Public Works Center Manana Title VII (Capehart) Housing, Four-Bedroom, Single-Family Type 10, Birch Circle, Elm Drive, Elm Circle, and Date Drive, Pearl City, Honolulu County, HI

BEDROOM 3. VIEW FACING EAST Camp H.M. Smith and ...

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

BEDROOM 3. VIEW FACING EAST - Camp H.M. Smith and Navy Public Works Center Manana Title VII (Capehart) Housing, Three-Bedroom Single-Family Type 7, Birch Circle, Elm Drive, Elm Circle, and Date Drive, Pearl City, Honolulu County, HI

UTILITY ROOM. VIEW FACING WEST Camp H.M. Smith and ...

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