Management of Type II Odontoid Fracture for Osteoporotic Bone Structure: Preliminary Report.

PubMed

Cosar, Murat; Ozer, A Fahir; Alkan, Bahadır; Guven, Mustafa; Akman, Tarık; Aras, Adem Bozkurt; Ceylan, Davut; Tokmak, Mehmet

2015-01-01

Anterior transodontoid screw fixation technique is generally chosen for the management of type II odontoid fractures. The nonunion of type II odontoid fractures is still a major problem especially in elderly and osteoporotic patients. Eleven osteoporotic type II odontoid fracured patients were presented in this article. We have divided 11 patients in two groups as classical and Ozer's technique. We have also compared (radiologically and clinically) the classical anterior transodontoid screw fixation (group II: 6 cases) and Ozer's transodontoid screw fixation technique (group I: 5 cases) retrospectively. There was no difference regaring the clinical features of the groups. However, the radiological results showed 100% fusion for Ozer's screw fixation technique and 83% fusion for the classical screw fixation technique. In conclusion, we suggest that Ozer's technique may help to increase the fusion capacity for osteoporotic type II odontoid fractures.

[Prostatic localization revealing an acute myeloid leukemia. Apropos of a case].

PubMed

Smaoui, S; Lecomte, M J; Peraldi, R; Pernin, F

1998-09-01

The authors report an original case of acute myeloid leukaemia (AML) presenting in the form of acute urinary retention, confirmed by prostatic biopsy, with complete absence of any non-urological clinical features. Prostatic sites of leukaemia are frequent and classically reported, but often occur during the course of known leukaemia, and are rarely symptomatic, justifying biopsies in the presence of any prostatic symptoms. Immunolabelling represents the key to the diagnosis in the presence of undifferentiated cells demonstrated on prostatic biopsies. The outcome was fatal in this case, despite early chemotherapy. The clinical features, clinical course and therapeutic aspects of prostatic leukaemia are discussed.

Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients.

PubMed

Lowe, Kathleen M; Young, William F; Lyssikatos, Charalampos; Stratakis, Constantine A; Carney, J Aidan

2017-02-01

Carney complex (CNC) is a rare dominantly inherited multiorgan tumoral disorder that includes Cushing syndrome (CS). To establish the Mayo Clinic experience with the CS component, including its clinical, laboratory, and pathologic findings, we performed a retrospective search of the patient and pathologic databases of Mayo Clinic in Rochester, MN, for patients with CNC and clinical or laboratory findings of CS. Thirty-seven patients with CNC were identified. Twenty-nine had clinical, pathologic, or laboratory evidence of an adrenocortical disorder. Seventeen had classic CS; 15 underwent bilateral, subtotal, or partial unilateral adrenalectomy, and 2 had no treatment. Pathologically, the glands were normal sized or slightly enlarged with multiple small (1 to 4 mm), brown, black, and yellow micronodules (primary pigmented nodular adrenocortical disease; PPNAD). Three glands each had a mass: a 2 cm adenoma, a 1.5 cm macronodule, and an unencapsulated 1.8 cm myelolipoma. Fourteen of the patients were alive at follow-up, and 3 were deceased; 2 of the latter had PPNAD at autopsy, and the third had PPNAD at surgery. Twelve patients without clinical features of classic CS had abnormal adrenocortical testing results; none developed classic CS during follow-up (mean, 10 y). Autopsy findings in 1 showed bilateral vacuolated cell cortical hyperplasia.

Clinical, pathological, and molecular features of classical and L-type atypical-BSE in goats

PubMed Central

D’Angelo, Antonio; Mazza, Maria; Meloni, Daniela; Baioni, Elisa; Maurella, Cristiana; Colussi, Silvia; Martinelli, Nicola; Lo Faro, Monica; Favole, Alessandra; Grifoni, Silvia; Gallo, Marina; Lombardi, Guerino; Iulini, Barbara; Casalone, Cristina; Corona, Cristiano

2018-01-01

Monitoring of small ruminants for transmissible spongiform encephalopathies (TSEs) has recently become more relevant after two natural scrapie suspected cases of goats were found to be positive for classical BSE (C-BSE). C-BSE probably established itself in this species unrecognized, undermining disease control measures. This opens the possibility that TSEs in goats may remain an animal source for human prion diseases. Currently, there are no data regarding the natural presence of the atypical BSE in caprines. Here we report that C-BSE and L-type atypical BSE (L-BSE) isolates from bovine species are intracerebrally transmissible to goats, with a 100% attack rate and a significantly shorter incubation period and survival time after C-BSE than after L-BSE experimental infection, suggesting a lower species barrier for classical agentin goat. All animals showed nearly the same clinical features of disease characterized by skin lesions, including broken hair and alopecia, and abnormal mental status. Histology and immunohistochemistry showed several differences between C-BSE and L-BSE infection, allowing discrimination between the two different strains. The lymphoreticular involvement we observed in the C-BSE positive goats argues in favour of a peripheral distribution of PrPSc similar to classical scrapie. Western blot and other currently approved screening tests detected both strains in the goats and were able to classify negative control animals. These data demonstrate that active surveillance of small ruminants, as applied to fallen stock and/or healthy slaughter populations in European countries, is able to correctly identify and classify classical and L-BSE and ultimately protect public health. PMID:29795663

Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.

PubMed

Morice-Picard, Fanny; Marlin, Sandrine; Rooryck, Caroline; Fayon, Mickael; Thambo, Jeao-Benoît; Demarquez, Jean-Louis; Fauroux, Brigitte; Denoyelle, Francoise; Lacombe, Didier

2009-04-01

We report two patients considered to have an atypical presentation of Hallerman-Streiff syndrome (HSS) associated with laterality and cardiac defects. Clinical features include typical facial gestalt, atrophy of the skin, and hypotrichosis. Ophthalmologic abnormalities, normally present in HSS, are only found in one of the two patients. Both of them have respiratory problems secondary to the classical narrow upper airway described in this syndrome. Both these patients have laterality defects and one has additional structural cardiac malformations. Cardiac defects have occasionally been reported in the HSS literature, but are not considered as a classical feature of the syndrome. Situs inversus has never been reported in this syndrome. Almost all HSS cases have been sporadic and their origin and inheritance pattern remain unknown.

Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report.

PubMed

Tateno, Yuki; Suzuki, Ryoji; Kitamura, Yukihiro

2016-12-01

Hereditary spherocytosis is autosomal dominant inherited extravascular hemolytic disorder and is the commonest cause of inherited hemolysis in northern Europe and the United States. The classical clinical features of hereditary spherocytosis are anemia, jaundice, and splenomegaly. However, all of these classical features are not always revealed in the case of mild hemolysis or when hemolysis is well compensated. Patients with hereditary spherocytosis may remain undiagnosed for years if their hemolysis is mild. A 42-year-old Asian woman presented to our clinic with a sudden onset of high fever with shaking chills and jaundice, suggesting septicemia; however, following detailed investigation, the patient was diagnosed with pyelonephritis and accelerated hemolysis of hereditary spherocytosis due to infection. It is important to note that transient anemia or jaundice can sometimes be the only initial presenting symptoms in cases of undiagnosed latent hereditary spherocytosis. This case also highlights the fact that physicians should consider concomitant hemolytic disease in patients in whom jaundice and infections that rarely cause jaundice coexist.

Organophosphate poisoning in Rhodesia. A study of the clinical features and management of 105 patients.

PubMed

Hayes, M M; van der Westhuizen, N G; Gelfand, M

1978-08-05

A series of 105 patients with organophosphate poisoning admitted to Harari Hospital during the past 4 years is described. Poisoning with organophosphate compounds is being seen more frequently in hospital practice in Rhodesia. Many of the cases are attempted suicides, but frequently there is no positive history of contact with the poison. The majority of patients exhibit the classic clinical features of parasympathetic overactivity, but diagnosis may be obscured by atypical presentation. Rapid diagnosis and utilization of the treatment regimen outlined in this article should reduce the mortality to less than 15%.

Breast cancer - one term, many entities?

PubMed

Bertos, Nicholas R; Park, Morag

2011-10-01

Breast cancer, rather than constituting a monolithic entity, comprises heterogeneous tumors with different clinical characteristics, disease courses, and responses to specific treatments. Tumor-intrinsic features, including classical histological and immunopathological classifications as well as more recently described molecular subtypes, separate breast tumors into multiple groups. Tumor-extrinsic features, including microenvironmental configuration, also have prognostic significance and further expand the list of tumor-defining variables. A better understanding of the features underlying heterogeneity, as well as of the mechanisms and consequences of their interactions, is essential to improve targeting of existing therapies and to develop novel agents addressing specific combinations of features.

Influence of Lewy Pathology on Alzheimer's Disease Phenotype: A Retrospective Clinico-Pathological Study.

PubMed

Roudil, Jennifer; Deramecourt, Vincent; Dufournet, Boris; Dubois, Bruno; Ceccaldi, Mathieu; Duyckaerts, Charles; Pasquier, Florence; Lebouvier, Thibaud

2018-01-01

Studies have shown the frequent coexistence of Lewy pathology (LP) in Alzheimer's Disease (AD). The aim of this study was to determine the influence of LP on the clinical and cognitive phenotype in a cohort of patients with a neuropathological diagnosis of AD. We reviewed neuropathologically proven AD cases, reaching Braak stages V and VI in the brain banks of Lille and Paris between 1993 and 2016, and classified them according to LP extension (amygdala, brainstem, limbic, or neocortical). We then searched patient files for all available clinical and neuropsychiatric features and neuropsychological data. Thirty-three subjects were selected for this study, among which 16 were devoid of LP and 17 presented AD with concomitant LP. The latter were stratified into two subgroups according to LP distribution: 7 were AD with amygdala LP and 10 were AD with 'classical' (brainstem, limbic or neocortical) LP. When analyzing the incidence of each clinical feature at any point during the disease course, we found no significant difference in symptom frequency between the three groups. However, fluctuations appeared significantly earlier in patients with classical LP (2±3.5 years) than in patients without LP (7±1.7 years) or with amygdala LP (8±2.8 years; p < 0.01). There was no significant difference in cognitive profiles. Our findings suggest that the influence of LP on the clinical phenotype of AD is subtle. Core features of dementia with Lewy bodies do not allow clinical diagnosis of a concomitant LP on a patient-to-patient basis.

Disease features in horses with induced equine monocytic ehrlichiosis (Potomac horse fever).

PubMed

Dutta, S K; Penney, B E; Myrup, A C; Robl, M G; Rice, R M

1988-10-01

Fifty-five horses were inoculated IV and/or SC with materials containing Ehrlichia risticii, ie, infected whole blood, buffy coat cells, or cell culture, to study clinical and hematologic features of equine monocytic ehrlichiosis (Potomac horse fever). Major clinical and hematologic features of induced E risticii infection were biphasic increase in rectal temperature with peak increases of 38.9 C and 39.3 C on postinoculation days (PID) 5 and 12, respectively; depression; anorexia; decreased WBC count (maximal decrease of 47% on PID 12); and diarrhea from PID 14 to PID 18. Increased WBC count was an inconsistent feature, with a maximal increase of 51.5% on PID 20. During times of decreased and increased WBC counts, lymphocyte/neutrophil ratios remained fairly constant. However, not all horses had all clinical and hematologic features, and these features were present in different degrees among horses. Increased rectal temperature, depression, anorexia, and decreased WBC count were more consistent features, whereas diarrhea developed in 73% of the horses. Of 55 horses, 39 (71%) had all clinical and hematologic features of the disease (classic disease), whereas 16 (29%) horses did not have greater than or equal to 1 of these features (nonclassic disease). The E risticii titer in the blood (ehrlichemia) was maximum during the peak increase in rectal temperature. In 55 horses, mortality was 9%. Significant differences (P greater than 0.5) in clinical and hematologic features were not detected between horses that survived and those that died of E risticii infection.

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.

PubMed

Guegan, K; Stals, K; Day, M; Turnpenny, P; Ellard, S

2012-07-01

Alagille syndrome is a multisystem disorder characterized by highly variable expressivity, most frequently caused by heterozygous JAG1 gene mutations. Classic diagnostic criteria combine the presence of bile duct paucity on liver biopsy with three of five systems affected; liver, heart, skeleton, eye and dysmorphic facies. The aim of this study was to determine the prevalence and distribution of JAG1 mutations in patients referred for routine clinical diagnostic testing. Clinical data were available for 241 patients from 135 families. The index cases were grouped according to the number of systems affected (heart, liver, skeletal, eye and facies) and the mutation frequency calculated for each group. JAG1 mutations were identified in 59/135 (44%) probands. The highest mutation detection rates were observed in patients with the most frequent presenting features of Alagille syndrome; ranging from 20% (one system) to 86% (five systems). The overall mutation pick-up rate in a clinical diagnostic setting was lower than in previous research studies. Identification of a JAG1 gene mutation is particularly useful for those patients with atypical or mild Alagille syndrome who do not meet classic diagnostic criteria as it provides a definite molecular diagnosis and allows accurate genetic counselling for the family. © 2011 John Wiley & Sons A/S.

Odd MECP2-mutated Rett variant-long-term follow-up profile to age 25.

PubMed

Hagberg, Bengt; Erlandsson, Anna; Kyllerman, Mårten; Larsson, Gunillla

2003-01-01

A 25-year-old MECP2-mutated female with odd developmental and dyspraxic/ataxic features, followed up through two decades, is reported. She does not fit either the classical Rett syndrome or the criteria required for any Rett variant phenotypes so far described. Nevertheless, she belongs clinically to the latter group. This case deserves attention in order, among other things, to provide important clues to better understand the puzzling battery of neuroimpairments and behavioural abnormalities met in classical Rett phenotypes and Rett variants defined thus far.

Clinical practice guidelines for the diagnosis and management of melanoma: melanomas that lack classical clinical features.

PubMed

Mar, Victoria J; Chamberlain, Alex J; Kelly, John W; Murray, William K; Thompson, John F

2017-10-16

A Cancer Council Australia multidisciplinary working group is currently revising and updating the 2008 evidence-based clinical practice guidelines for the management of cutaneous melanoma. While there have been many recent improvements in treatment options for metastatic melanoma, early diagnosis remains critical to reducing mortality from the disease. Improved awareness of the atypical presentations of this common malignancy is required to achieve this. A chapter of the new guidelines was therefore developed to aid recognition of atypical melanomas. Main recommendations: Because thick, life-threatening melanomas may lack the more classical ABCD (asymmetry, border irregularity, colour variegation, diameter > 6 mm) features of melanoma, a thorough history of the lesion with regard to change in morphology and growth over time is essential. Any lesion that is changing in morphology or growing over a period of more than one month should be excised or referred for prompt expert opinion. Changes in management as a result of the guidelines: These guidelines provide greater emphasis on improved recognition of the atypical presentations of melanoma, in particular nodular, desmoplastic and acral lentiginous subtypes, with particular awareness of hypomelanotic and amelanotic lesions.

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.

The rope sign: a case of interstitial granulomatous dermatitis with arthritis.

PubMed

Savoia, Francesco; Stinchi, Caterina; Gaddoni, Giuseppe; Patrizi, Annalisa; Odorici, Giulia; Tengattini, Vera; Cataleta, Pierluigi; Zago, Silvia

2016-02-01

Interstitial granulomatous dermatitis with arthritis (IGDA), also known as Ackerman's syndrome, is a rare cutaneous disease classically characterized by the triad of cutaneous cords, a typical histologic infiltrate mainly constituted by histiocytes and arthritis/connective tissue disease. Here we report the case of IGDA with the typical clinical and histological features in a patient affected by lupus erythematosus. In this article we underline that IGDA may have a variety of different clinical and histological features. The rope sign is typical but infrequent, while histology is usually characteristic and shows a dermal inflammatory infiltrate, with a predominance of histiocytes, localized interstitially and in a palisaded array between collagen fibres, that show signs of degeneration. Clinical and histological differential diagnoses are discussed.

Pedunculated and telangiectatic merkel cell carcinoma: an unusual clinical presentation.

PubMed

Errichetti, Enzo; Piccirillo, Angelo; Ricciuti, Federico; Ricciuti, Francesco

2013-05-01

Merkel cell carcinoma (MCC) is an uncommon aggressive neuroendocrine tumor of the skin that classically presents on chronic sun-damaged skin as a skin-colored, red or violaceous, firm and nontender papule or nodule with a smooth and shiny surface. Ulcerations can be observed very seldom and only in very advanced lesions. We present a unique case of a MCC presenting with two unusual clinical features: The Telangiectatic surface and the pedunculated aspect.

Understanding Bartter syndrome and Gitelman syndrome.

PubMed

Fremont, Oliver T; Chan, James C M

2012-02-01

We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

Neurocysticercosis in Wisconsin: 3 cases and a review of the literature.

PubMed

Naddaf, Elie; Seeger, Susanne K; Stafstrom, Carl E

2014-04-01

Neurocysticercosis is the most common parasitic infection of the brain. Endemic in many regions of the world, neurocysticercosis is now showing up in nonendemic areas such as Wisconsin. We present 3 patients that illustrate features typical for neurocysticercosis in anon-endemic area, including immigrant/travel status, presentation with focal seizures, classic magnetic resonance imaging features of single enhancing lesions, and good response to treatment with anticonvulsants, anti-inflammatory agents, and cysticidal drugs. It behooves physicians involved in the care of at-risk populations to be aware of the clinical features, radiographic signs, diagnostic tests, and general principles for treating neurocysticercosis.

Melorheostosis involving the craniofacial skeleton.

PubMed

Ethunandan, Madanagopalan; Khosla, Nalin; Tilley, Elizabeth; Webb, Andrew

2004-11-01

Melorheostosis is a rare bone disorder, usually affecting the long bones and adjacent soft tissue. It was originally described by Leri and Joanny in 1922, after its classic x-ray features of flowing hyperostosis resembling dripping candle wax. There have been fewer than 10 reported cases of craniofacial involvement, and in most instances these have also involved the appendicular skeleton. The authors report a case of melorheostosis with isolated craniofacial involvement, describe the clinical course and radiologic and histologic features, and review the pertinent literature.

A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis.

PubMed

Ekbote, Alka V; Danda, Debashish; Kumar, Sathish; Danda, Sumita; Madhuri, Vrisha; Gibikote, Sridhar

2013-06-01

Progressive-psuedorheumatoid-arthropathy of childhood (PPAC) is an autosomal recessive single gene skeletal dysplasia involving joints. The gene attributed to its cause is WNT1-inducible-signaling pathway protein3 (WISP3). To study the clinical and radiographic presentation of PPAC in Indian patients and to compare with described features of PPAC and Juvenile Idiopathic Arthritis (JIA) from published literature. All cases (n = 14) of PPAC seen in the Rheumatology and Clinical Genetics outpatient clinic between 2008 and 2011 with classical, clinical, and radiological features were studied. The demographic and clinical data were obtained from medical records of the outpatient visits. Slight female preponderance (57%) and history of consanguinity in parents (43%) was observed in this group. The median age at onset was 4.5 years (range from birth to 9 years of age). Early presentation below the age of 3 years was seen in 3/14 patients (21%) in this group. The growth of all the patients fell below the 3rd percentile for the age. Historically, hip joint involvement was the most common presenting feature; however, elbow, wrist, knees, feet, spine, shoulder joints and small joints, namely proximal interphalangeal (PIP), distal interphalangeal (DIP), metacarpophalangeal (MCP), metatarsophalangeal joints (MTP), and interphalangeal joints (IP) of the feet, were also involved, either clinically or radiologically in varying proportions. Platyspondyly was noted in all. Molecular analysis of the WISP3 gene identified mutations in all the 5 individuals in whom it was done. This descriptive case series of PPAC from India reports distinctly differentiating clinical, radiological, and molecular markers in contrast with classically described features of JIA, its mimic. Early presentation (age of onset below 3 years) with involvement of interphalangeal joints seen in three patients (21%) was a unique finding, with missense WISP3 gene mutations in all of them. Timely diagnosis of this entity can spare the patient from unnecessary investigations and toxic medications. Copyright © 2013 Elsevier Inc. All rights reserved.

Pedunculated and Telangiectatic Merkel Cell Carcinoma: An Unusual Clinical Presentation

PubMed Central

Errichetti, Enzo; Piccirillo, Angelo; Ricciuti, Federico; Ricciuti, Francesco

2013-01-01

Merkel cell carcinoma (MCC) is an uncommon aggressive neuroendocrine tumor of the skin that classically presents on chronic sun-damaged skin as a skin-colored, red or violaceous, firm and nontender papule or nodule with a smooth and shiny surface. Ulcerations can be observed very seldom and only in very advanced lesions. We present a unique case of a MCC presenting with two unusual clinical features: The Telangiectatic surface and the pedunculated aspect. PMID:23723504

Atypical scrapie in sheep from a UK research flock which is free from classical scrapie

PubMed Central

Simmons, Hugh A; Simmons, Marion M; Spencer, Yvonne I; Chaplin, Melanie J; Povey, Gill; Davis, Andrew; Ortiz-Pelaez, Angel; Hunter, Nora; Matthews, Danny; Wrathall, Anthony E

2009-01-01

Background In the wake of the epidemic of bovine spongiform encephalopathy the British government established a flock of sheep from which scrapie-free animals are supplied to laboratories for research. Three breeds of sheep carrying a variety of different genotypes associated with scrapie susceptibility/resistance were imported in 1998 and 2001 from New Zealand, a country regarded as free from scrapie. They are kept in a purpose-built Sheep Unit under strict disease security and are monitored clinically and post mortem for evidence of scrapie. It is emphasised that atypical scrapie, as distinct from classical scrapie, has been recognised only relatively recently and differs from classical scrapie in its clinical, neuropathological and biochemical features. Most cases are detected in apparently healthy sheep by post mortem examination. Results The occurrence of atypical scrapie in three sheep in (or derived from) the Sheep Unit is reported. Significant features of the affected sheep included their relatively high ages (6 y 1 mo, 7 y 9 mo, 9 y 7 mo respectively), their breed (all Cheviots) and their similar PRNP genotypes (AFRQ/AFRQ, AFRQ/ALRQ, and AFRQ/AFRQ, respectively). Two of the three sheep showed no clinical signs prior to death but all were confirmed as having atypical scrapie by immunohistochemistry and Western immunoblotting. Results of epidemiological investigations are presented and possible aetiologies of the cases are discussed. Conclusion By process of exclusion, a likely explanation for the three cases of atypical scrapie is that they arose spontaneously and were not infected from an exterior source. If correct, this raises challenging issues for countries which are currently regarded as free from scrapie. It would mean that atypical scrapie is liable to occur in flocks worldwide, especially in older sheep of susceptible genotypes. To state confidently that both the classical and atypical forms of scrapie are absent from a population it is necessary for active surveillance to have taken place. PMID:19208228

Hepatocellular carcinoma with both fibrolamellar and classical components: an unusual morphological pattern.

PubMed

Castro-Villabón, Diana; Barrera-Herrera, Luis E; Rodríguez-Urrego, Paula A; Hudacko, Rachel; Vera, Alonso; Álvarez, Johanna; Andrade, Rafael; López, Rocío

2015-01-01

Fibrolamellar carcinoma (FLC) is an uncommon form of primary liver malignancy with unique clinical, histological, and biological characteristics. It is usually seen in young adults without underlying liver disease. Histologically, it shows large cells with abundant eosinophilic cytoplasm, large vesicular nuclei, prominent nucleoli, and lamellar type fibrosis. In contrast, classical hepatocellular carcinoma (HCC) is typically present in elderly male patients with cirrhosis. It is the most common histological subtype, and it is characterized by its resemblance to the normal liver, both in its growth pattern and its cytology. The unusual case of a liver carcinoma that presented with histological features of both FLC and classical HCC is herein reported. This was the case of a 37-year-old female complaining of diffuse abdominal discomfort and epigastric pain for two months. She was referred to us for further management after she was diagnosed with HCC in a noncirrhotic liver. She underwent a left-sided hepatectomy. A yellow nodular mass with well-defined borders and a necrotic center was present in the resection specimen. The morphological features and immunohistochemical studies were consistent with a diagnosis of FLC mixed with classical HCC. The patient was followed up for five months, and no signs of recurrence were evident.

TANDEM: a two-stage approach to maximize interpretability of drug response models based on multiple molecular data types.

PubMed

Aben, Nanne; Vis, Daniel J; Michaut, Magali; Wessels, Lodewyk F A

2016-09-01

Clinical response to anti-cancer drugs varies between patients. A large portion of this variation can be explained by differences in molecular features, such as mutation status, copy number alterations, methylation and gene expression profiles. We show that the classic approach for combining these molecular features (Elastic Net regression on all molecular features simultaneously) results in models that are almost exclusively based on gene expression. The gene expression features selected by the classic approach are difficult to interpret as they often represent poorly studied combinations of genes, activated by aberrations in upstream signaling pathways. To utilize all data types in a more balanced way, we developed TANDEM, a two-stage approach in which the first stage explains response using upstream features (mutations, copy number, methylation and cancer type) and the second stage explains the remainder using downstream features (gene expression). Applying TANDEM to 934 cell lines profiled across 265 drugs (GDSC1000), we show that the resulting models are more interpretable, while retaining the same predictive performance as the classic approach. Using the more balanced contributions per data type as determined with TANDEM, we find that response to MAPK pathway inhibitors is largely predicted by mutation data, while predicting response to DNA damaging agents requires gene expression data, in particular SLFN11 expression. TANDEM is available as an R package on CRAN (for more information, see http://ccb.nki.nl/software/tandem). m.michaut@nki.nl or l.wessels@nki.nl Supplementary data are available at Bioinformatics online. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Late-onset Rasmussen Encephalitis: A literature appraisal.

PubMed

Dupont, Sophie; Gales, Ana; Sammey, Serge; Vidailhet, Marie; Lambrecq, Virginie

2017-08-01

Rasmussen Encephalitis (RE) is classically described as a childhood encephalopathy due to a unilateral inflammation of the cerebral cortex with a presumed immune-mediated pathophysiological basis. Unusual variant forms, including adolescent and adult-onset RE have been described but there is still a doubt whether these atypical cases correspond to classical RE patients. To review evidence, a systematic PubMed search was conducted to retrieve papers addressing late onset RE to assess (i) the positivity rate of classical childhood-onset diagnostic criteria for RE in late-onset RE, (ii) the specific clinical and radiological features that could help earlier diagnosis and therapeutic interventions, (iii) the arguments for an autoimmune pathophysiology including (iiia) the association with autoimmune markers or diseases and (iiib) the effects of immunomodulatory or immunosuppressive treatments. A total of 50 papers were considered. We identified 102 late-onset RE patients with a sex ratio of 8 women for 2 men. 67% fulfilled the consensus diagnostic criteria for RE. As compared to classical RE, the late-onset RE patients exhibited: i) more frequent focal complex partial seizures, ii) less frequent epilepsia partialis continua throughout evolution, iii) a slower evolution with a delayed occurrence of cortical deficit, iv) less cognitive deterioration and v) a better outcome. A specific association with autoimmune markers or diseases was not found. Immunomodulatory therapies, even performed in a late stage, improved late-onset RE patients in 61% of cases. This review proves that late-onset RE is a reality with specific clinical and radiological features. The good response to immunomodulatory treatments brings further arguments for an immune-regulated process. Copyright © 2017 Elsevier B.V. All rights reserved.

Autoimmune acute liver failure: proposed clinical and histological criteria.

PubMed

Stravitz, R Todd; Lefkowitch, Jay H; Fontana, Robert J; Gershwin, M Eric; Leung, Patrick S C; Sterling, Richard K; Manns, Michael P; Norman, Gary L; Lee, William M

2011-02-01

Identifying autoimmune hepatitis as the etiology of acute liver failure (ALF) is potentially important, because administering corticosteroids might avoid the need for liver transplantation. However, clinical and histological criteria of autoimmune ALF (AI-ALF) have not been defined. Liver sections (biopsies and explants) from a 72-patient subset of the ALF Study Group Registry with indeterminate ALF were reviewed by a pathologist blinded to all clinical data and were diagnosed with probable AI-ALF based on four features suggestive of an autoimmune pathogenesis: distinctive patterns of massive hepatic necrosis (present in 42% of sections), presence of lymphoid follicles (32%), a plasma cell-enriched inflammatory infiltrate (63%), and central perivenulitis (65%). Forty-two sections (58%) were considered probable for AI-ALF; this group demonstrated higher serum globulins (3.7 ± 0.2 g/dL versus 3.0 ± 0.2 g/dL; P = 0.037) and a higher prevalence of antinuclear and/or anti-smooth muscle antibodies (73% versus 48%; P = 0.034) compared to those without histology suggestive of probable AI-ALF. Thirty patients concordant for autoantibodies and probable AI-ALF upon histological analysis were more likely to have the classical autoimmune hepatitis phenotype (female predominance [72% versus 48%; P < 0.05], higher globulins [3.9 ± 0.2 g/dL versus 3.0 ± 0.2 g/dL; P < 0.005], and higher incidence of chronic hepatitis in long-term follow-up [67% versus 17%, P = 0.019]) compared to the population without concordant AI-ALF histology and autoantibodies. Patients with indeterminate ALF often have features of autoimmune disease by histological analysis, serological testing, and clinical recurrence during follow-up. In contrast to classical autoimmune hepatitis, histological features of AI-ALF predominate in the centrilobular zone. Copyright © 2010 American Association for the Study of Liver Diseases.

Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.

PubMed

Liu, Wenyu; Yan, Bo; An, Dongmei; Xiao, Jiahe; Hu, Fayun; Zhou, Dong

2017-07-01

The purpose of this study was to better delineate the clinical spectrum of periventricular nodular heterotopia (PNH) in a large patient population after long term follow up. Specifically, this study aimed to relate PNH subtypes to clinical or epileptic outcomes, epileptic discharges and underlying Filamin A (FLNA) mutations by analyzing anatomical features. The study included 100 patients with radiologically confirmed nodular heterotopia. Patients' FLNA gene sequences and medical records were analyzed. Two-sided Chi-square test and Fisher's exact t-test were used to assess associations between the distribution of PNHs and specific clinical features. Based on imaging data, patients were subdivided into three groups: (a) classical (bilateral frontal and body, n=41 patients), (b) bilateral asymmetrical or posterior (n=16) and (c) unilateral heterotopia (n=43). Most patients with classical heterotopia were females (P=0.033) and were likely to have arachnoid cysts (P=0.025) and cardiac abnormalities (P=0.041), but were mostly seizure-free. Additionally, hippocampal abnormalities (P=0.022), neurological deficits (P=0.028) and cerebellar abnormalities (P=0.005) were more common in patients with bilateral asymmetrical heterotopia. Patients with unilateral heterotopia were prone to develop refractory epilepsy (P=0.041). FLNA mutations were identified in 8 patients. Each group's distinctive genetic mutations, epileptic discharge patterns and overall clinical outcomes confirm that the proposed classification system is reliable. These findings could not only be an indicator of a more severe morphological and clinical phenotype, but could also have clinical implications with respect to the epilepsy management and optimization of therapeutic options. Copyright © 2017 Elsevier B.V. All rights reserved.

Wilson's Disease: a challenge of diagnosis. The 5-year experience of a tertiary centre.

PubMed

Gheorghe, Liana; Popescu, Irinel; Iacob, Speranta; Gheorghe, Cristian; Vaidan, Roxana; Constantinescu, Alexandra; Iacob, Razvan; Becheanu, Gabriel; Angelescu, Corina; Diculescu, Mircea

2004-09-01

Because molecular diagnosis is considered impractical and no patognomonic features have been described, diagnosis of Wilson's disease (WD) using clinical and biochemical findings is still challenging. We analysed predictive factors for the diagnosis in 55 patients with WD diagnosed in our centre between 1st January 1999 and 1st April 2004. All patients presented predominant liver disease classified as: 1) asymptomatic, found incidentally, 2) chronic hepatitis or cirrhosis, or 3) fulminant hepatic failure. Diagnosis was considered as classic (two out of the three following criteria: 1) serum ceruloplasmin < 20 mg/dl, 2) the presence of Kayser-Fleischer rings and/or 3) hepatic copper > 250 mg/g dry weight liver tissue), and non-classic (clinical manifestations plus laboratory parameters suggesting impaired copper metabolism). The association between the predictive factors and non-classic diagnosis was assessed based on the level of statistical significance (p value<0.05) associated with the chi-squared test in contingency tables. Multivariate analysis was performed by logistic regression using SPSS 10. There were 31 males (56.3%) and 24 females (43.7%) with the mean age at diagnosis of 20.92 +/- 9.97 years (4-52 years); 51 patients (92.7%) were younger than 40 years. Asymptomatic WD was diagnosed in 14 patients (25.4%), chronic liver disease due to WD in 29 patients (52.8%) and fulminant hepatic failure in 12 patients (21.8%). The classic diagnosis was made in 32 patients (58.18%). In the univariate analysis the non-classic diagnosis was associated with: age>18 years (p=0.03), increased copper excretion (p<0.0001), Coombs-negative hemolysis (p=0.03), absence of neurological manifestations (p<0.0001). Multivariate analysis identified age over 18 years, increased urinary copper, and isolated hepatic involvement as independent predictors. In clinical practice, WD should be considered also in patients who do not fulfil classic criteria. Independent factors associated with non-classic diagnosis were age over 18 years, increased cupruresis and isolated liver disease.

The Warthin-Like Variant of Papillary Thyroid Carcinoma: A Comparison with Classic Type in the Patients with Coexisting Hashimoto's Thyroiditis.

PubMed

Yeo, Min-Kyung; Bae, Ja Seong; Lee, Sohee; Kim, Min-Hee; Lim, Dong-Jun; Lee, Youn Soo; Jung, Chan Kwon

2015-01-01

Background. The Warthin-like variant of papillary thyroid (WLPTC) is a rare subtype of papillary thyroid carcinoma (PTC) resembling Warthin tumors of the salivary glands. Due to its rarity, the clinicopathologic and molecular features of WLPTC remain unclear. Methods. Of the 2,139 patients who underwent surgical treatment for PTC from 2012 to 2013, 40 patients with WLPTC were identified and compared to 200 consecutive patients with classic PTC. BRAF mutation was tested with pyrosequencing. Results. There were no significant differences in age, predilection for women, multifocality, extrathyroidal extension, or lymph node metastasis between WLPTC and classic PTC. However, WLPTCs were more commonly associated with Hashimoto's thyroiditis than classic PTCs (93% versus 36%, resp., P < 0.001) and showed significantly lower rate of BRAF mutation when compared to classic PTCs (65% versus 84%, resp., P = 0.007). In classic PTC, the frequency of BRAF mutations was negatively correlated with coexisting Hashimoto's thyroiditis. When we compared WLPTC and classic PTC in the patients with coexisting Hashimoto's thyroiditis, there were no significant differences in clinicopathologic characteristics or the BRAF mutational rate between the two groups. Conclusions. Patients with WLPTC have similar demographic, clinical, pathologic, and molecular characteristics to those with classic PTC coexisting with Hashimoto's thyroiditis.

The Warthin-Like Variant of Papillary Thyroid Carcinoma: A Comparison with Classic Type in the Patients with Coexisting Hashimoto's Thyroiditis

PubMed Central

Yeo, Min-kyung; Bae, Ja Seong; Lim, Dong-Jun; Lee, Youn Soo

2015-01-01

Background. The Warthin-like variant of papillary thyroid (WLPTC) is a rare subtype of papillary thyroid carcinoma (PTC) resembling Warthin tumors of the salivary glands. Due to its rarity, the clinicopathologic and molecular features of WLPTC remain unclear. Methods. Of the 2,139 patients who underwent surgical treatment for PTC from 2012 to 2013, 40 patients with WLPTC were identified and compared to 200 consecutive patients with classic PTC. BRAF mutation was tested with pyrosequencing. Results. There were no significant differences in age, predilection for women, multifocality, extrathyroidal extension, or lymph node metastasis between WLPTC and classic PTC. However, WLPTCs were more commonly associated with Hashimoto's thyroiditis than classic PTCs (93% versus 36%, resp., P < 0.001) and showed significantly lower rate of BRAF mutation when compared to classic PTCs (65% versus 84%, resp., P = 0.007). In classic PTC, the frequency of BRAF mutations was negatively correlated with coexisting Hashimoto's thyroiditis. When we compared WLPTC and classic PTC in the patients with coexisting Hashimoto's thyroiditis, there were no significant differences in clinicopathologic characteristics or the BRAF mutational rate between the two groups. Conclusions. Patients with WLPTC have similar demographic, clinical, pathologic, and molecular characteristics to those with classic PTC coexisting with Hashimoto's thyroiditis. PMID:25983754

Spectrum of Celiac disease in Paediatric population: Experience of Tertiary Care Center from Pakistan.

PubMed

Aziz, Danish Abdul; Kahlid, Misha; Memon, Fozia; Sadiq, Kamran

2017-01-01

To determine clinical features and relevant laboratory investigations of patient with celiac disease (CD) and comparing classical celiac disease (CCD) with Non-diarrheal celiac disease (NDCD). This is a five years retrospective study conducted at The Aga Khan University Hospital Karachi, Pakistan from January 2010 to December 2015, enrolling children from one year to 15 years of either gender diagnosed as celiac disease in accordance with revised ESPGHAN criteria. Biopsy samples with grade 2 or more on Modified Marsh Classification were considered as consistent with celiac disease. Celiac patients were categorized into Classical celiac disease (with Chronic Diarrhea) and non-diarrheal celiac disease (Atypical celiac) and their clinical features and relevant laboratory investigations were documented. Total 66 patients were selected with celiac disease according to inclusion criteria, 39 (59.09%) patients were labeled as CCD and 27 (40.91%) patients were labeled as NDCD. Marsh grading 3a and above were more marked in CCD as compared to NDCD. Mean titer for Tissue transglutaminase antibodies (TTG) were higher in CCD group in comparison to NDCD group. In CCD, the most common clinical presentations were abdominal distension whereas in NDCD, the most remarkable features were recurrent abdominal pain (62.9%). Frequency of failure to thrive is significantly high in CCD (82.05%) but patients merely with short stature were more common in NDCD (33.3%). Refractory anemia was present in 66.6% patients in NDCD group and 41.1% patients in CCD group. 74.3% patients in CCD group were vitamin D deficient whereas 85% patient had vitamin D deficiency in NDCD group (p= 0.03). NDCD is not uncommon in our population. Recurrent abdominal pain, failure to thrive or patients only with short stature and refractory anemia are prominent features in NCDC group whereas abdominal distension, failure to thrive and recurrent abdominal pain were noticeable features in CCD. High grade histopathology and raised antibodies titer is hallmark of CCD. Vitamin D deficiency is almost equally present in both groups.

Attenuated variants of Lesch-Nyhan disease

PubMed Central

Ceballos-Picot, Irene; Torres, Rosa J.; Visser, Jasper E.; Schretlen, David J.; Verdu, Alfonso; Laróvere, Laura E.; Chen, Chung-Jen; Cossu, Antonello; Wu, Chien-Hui; Sampat, Radhika; Chang, Shun-Jen; de Kremer, Raquel Dodelson; Nyhan, William; Harris, James C.; Reich, Stephen G.; Puig, Juan G.

2010-01-01

Lesch–Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine–guanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe generalized dystonia, cognitive disability and self-injurious behaviour. In addition to the classic disease, variant forms of the disease occur wherein some clinical features are absent or unusually mild. The current studies provide the results of a prospective and multi-centre international study focusing on neurological manifestations of the largest cohort of Lesch–Nyhan disease variants evaluated to date, with 46 patients from 3 to 65 years of age coming from 34 families. All had evidence for overproduction of uric acid. Motor abnormalities were evident in 42 (91%), ranging from subtle clumsiness to severely disabling generalized dystonia. Cognitive function was affected in 31 (67%) but it was never severe. Though none exhibited self-injurious behaviours, many exhibited behaviours that were maladaptive. Only three patients had no evidence of neurological dysfunction. Our results were compared with a comprehensive review of 78 prior reports describing a total of 127 Lesch–Nyhan disease variants. Together these results define the spectrum of clinical features associated with hypoxanthine–guanine phosphoribosyltransferase deficiency. At one end of the spectrum are patients with classic Lesch–Nyhan disease and the full clinical phenotype. At the other end of the spectrum are patients with overproduction of uric acid but no apparent neurological or behavioural deficits. Inbetween are patients with varying degrees of motor, cognitive, or behavioural abnormalities. Recognition of this spectrum is valuable for understanding the pathogenesis and diagnosis of all forms of hypoxanthine–guanine phosphoribosyltransferase deficiency. PMID:20176575

Striatal necrosis in type 1 glutaric aciduria: Different stages in two siblings.

PubMed

Sen, Anitha; Pillay, Rajesh Subramonia

2011-07-01

Two siblings born of a consanguineous marriage with history of neurologic deterioration were imaged. Imaging features are classical of glutaric aciduria type 1 (GA-1), acute (striatal necrosis) stage in younger sibling, and chronic stage in older sibling. GA-1 is an autosomal recessive disease with typical imaging features. Greater awareness about this condition among clinicians and radiologists is essential for early diagnosis and prevention of its catastrophic consequences. Striatal necrosis with stroke-like signal intensity on imaging correlates with clinical stage of patients.

Striatal necrosis in type 1 glutaric aciduria: Different stages in two siblings

PubMed Central

Sen, Anitha; Pillay, Rajesh Subramonia

2011-01-01

Two siblings born of a consanguineous marriage with history of neurologic deterioration were imaged. Imaging features are classical of glutaric aciduria type 1 (GA-1), acute (striatal necrosis) stage in younger sibling, and chronic stage in older sibling. GA-1 is an autosomal recessive disease with typical imaging features. Greater awareness about this condition among clinicians and radiologists is essential for early diagnosis and prevention of its catastrophic consequences. Striatal necrosis with stroke-like signal intensity on imaging correlates with clinical stage of patients. PMID:22408669

Cholinergic and dopaminergic activities in senile dementia of Lewy body type.

PubMed

Perry, E K; Marshall, E; Perry, R H; Irving, D; Smith, C J; Blessed, G; Fairbairn, A F

1990-01-01

Analyses of brain tissue in a recently identified group of elderly demented patients suggest a neurochemical basis for some of the clinical features. Senile dementia of the Lewy body type (SDLT) can be distinguished from classical Alzheimer disease (AD) clinically by its acute presentation with confusion frequently accompanied by visual hallucinations, and neuropathologically by the presence of Lewy bodies and senile plaques (but not generally neurofibrillary tangles) in the cerebral cortex. Reductions in the cortical cholinergic enzyme choline acetyltransferase were more pronounced in individuals with (80%) compared to those without (50%) hallucinations and correlated strongly with mental test scores in the group as a whole. In the caudate nucleus, dopamine levels were related to the number of neurons in the substantia nigra, there being a 40-60% loss of both in SDLT--probably accounting for mild extrapyramidal features in some of these cases--compared with an 80% loss in Parkinson disease and no change in AD. The cholinergic correlates of mental impairment in SDLT together with the relative absence of cortical neurofibrillary tangles and evidence for postsynaptic cholinergic receptor compensation raise the question of whether this type of dementia may be more amenable to cholinotherapy than classical AD.

Clinical severity and quality of life in children and adolescents with Rett syndrome

PubMed Central

Lane, J.B.; Lee, H.-S.; Smith, L.W.; Cheng, P.; Glaze, D.G.; Neul, J.L.; Motil, K.J.; Barrish, J.O.; Skinner, S.A.; Annese, F.; McNair, L.; Graham, J.; Khwaja, O.; Barnes, K.; Krischer, J.P.

2011-01-01

Objective: The clinical features and genetics of Rett syndrome (RTT) have been well studied, but examination of quality of life (QOL) is limited. This study describes the impact of clinical severity on QOL among female children and adolescents with classic RTT. Methods: Cross-sectional and longitudinal analyses were conducted on data collected from an NIH-sponsored RTT natural history study. More than 200 participants from 5 to 18 years of age with classic RTT finished their 2-year follow-up at the time of analysis. Regression models after adjustment for their MECP2 mutation type and age at enrollment were used to examine the association between clinical status and QOL. Results: Severe clinical impairment was highly associated with poor physical QOL, but worse motor function and earlier age at onset of RTT stereotypies were associated with better psychosocial QOL; conversely, better motor function was associated with poorer psychosocial QOL. Conclusions: Standard psychosocial QOL assessment for children and adolescents with RTT differs significantly with regard to their motor function severity. As clinical trials in RTT emerge, the Child Health Questionnaire 50 may represent one of the important outcome measures. PMID:22013176

Rett syndrome: revised diagnostic criteria and nomenclature.

PubMed

Neul, Jeffrey L; Kaufmann, Walter E; Glaze, Daniel G; Christodoulou, John; Clarke, Angus J; Bahi-Buisson, Nadia; Leonard, Helen; Bailey, Mark E S; Schanen, N Carolyn; Zappella, Michele; Renieri, Alessandra; Huppke, Peter; Percy, Alan K

2010-12-01

Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials. RettSearch members, representing the majority of the international clinical RTT specialists, participated in an iterative process to come to a consensus on a revised and simplified clinical diagnostic criteria for RTT. The clinical criteria required for the diagnosis of classic and atypical RTT were clarified and simplified. Guidelines for the diagnosis and molecular evaluation of specific variant forms of RTT were developed. These revised criteria provide clarity regarding the key features required for the diagnosis of RTT and reinforce the concept that RTT is a clinical diagnosis based on distinct clinical criteria, independent of molecular findings. We recommend that these criteria and guidelines be utilized in any proposed clinical research.

Clinical manifestations of primary hyperthyroidism in the elderly patients at the out-patient clinic of Srinagarind Hospital.

PubMed

Limpawattana, Panita; Sawanyawisut, Kittisak; Mahankanukrau, Ajanee; Wongwipaporn, Chaiyasit

2006-02-01

The authors reviewed the outpatient charts diagnosed as hyperthyroidism at Srinagarind Hospital from June 1998-June 2004. The objective was to compare the clinical features of hyperthyroidism in patients older and younger than 60 years old. There were 922 cases enrolled, 84 cases (9.11%) were 60 years old and above. The female: male ratio was 3.4:1 and 4:1 and the mean ages were 64.2 +/- 3.7 and 37.4 +/- 11.2 years old in the elder and younger group, respectively. The common presentations were dyspnea (94.1, 96.5%), weight loss (93.8, 87.9%) and palpitation (83.3, 93.1%) in the elder and younger, respectively. The more significant clinical presentations in the elder group were atrial fibrillation, weakness and anorexia whereas exophthalmos, goiter, heat intolerance and hyperhidrosis were not as frequent. Thus, the classic presentations often lacked in the elder group. Therefore, unexplained AF, weakness and anorexia should not exclude hyperthyroidism even with paucity of typical clinical features.

Learning Semantic Tags from Big Data for Clinical Text Representation.

PubMed

Li, Yanpeng; Liu, Hongfang

2015-01-01

In clinical text mining, it is one of the biggest challenges to represent medical terminologies and n-gram terms in sparse medical reports using either supervised or unsupervised methods. Addressing this issue, we propose a novel method for word and n-gram representation at semantic level. We first represent each word by its distance with a set of reference features calculated by reference distance estimator (RDE) learned from labeled and unlabeled data, and then generate new features using simple techniques of discretization, random sampling and merging. The new features are a set of binary rules that can be interpreted as semantic tags derived from word and n-grams. We show that the new features significantly outperform classical bag-of-words and n-grams in the task of heart disease risk factor extraction in i2b2 2014 challenge. It is promising to see that semantics tags can be used to replace the original text entirely with even better prediction performance as well as derive new rules beyond lexical level.

Pediatric nodal marginal zone lymphoma may develop in the adult population.

PubMed

Gitelson, Elena; Al-Saleem, Tahseen; Robu, Valentin; Millenson, Michael M; Smith, Mitchell R

2010-01-01

Pediatric nodal marginal zone lymphoma (NMZL) is described as a separate variant of NMZL in the most recent WHO classification of tumors of hematologic and lymphoid tissues. It has distinctive morphology and clinical presentation and stands out as an indolent disease with remarkably better overall prognosis compared to classic NMZL. Here we report two adult patients with NMZL with clinical and morphologic features consistent with pediatric NMZL (pNMZL) and review available literature describing the clinical and histologic presentation of pNMZL. Two men, ages 44 and 18 years, each presented with localized cervical lymphadenopathy, both demonstrated florid proliferation of the marginal zone and disruption of reactive germinal centers, progressive transformation of germinal centers-like morphologic features typical for pNMZL and clonal disease with immunophenotype consistent with NMZL. This is the first report of pNMZL in a middle-aged person. Distinct histologic features and characteristic benign clinical course will help to distinguish this rare variant from other NMZL in the adults. Clinically, recognition is important to understand the true incidence of this rare form in the adult population and to avoid unnecessary overtreatment of this indolent form.

Classic Kaposi's sarcoma presenting in the oral cavity of two HIV-negative Quechua patients.

PubMed

Mohanna, Salim; Bravo, Francisco; Ferrufino, Juan Carlos; Sanchez, Juvenal; Gotuzzo, Eduardo

2007-09-01

Traditionally, classic KS lesions have a general distribution, often involving the skin of the feet and legs, and to a lesser extent, that of the hands, arms, and trunk. Oral involvement is a rare manifestation. Initial oral involvement is an even rarer occurrence. We report two unusual cases of classic KS presenting in the oral cavity of two patients from indigenous origin; the first patient with primary oral KS lesion on the hard palate, with no other signs of the condition in any other region of the body; the second patient with generalized dermal KS lesions with lymph node and lower lip involvement. In conclusion, clinicians and pathologists should be aware of the typical clinical, gross, and histologic features of KS. Moreover, we would like to emphasize that oral KS may affect patients without AIDS or exposure to immunosuppression. The awareness of oral classic KS as a diagnostic possibility is important in the work-up of vascular lesions in the oral cavity of non-immunosuppressed individuals.

Comparison of machine learning methods for classifying mediastinal lymph node metastasis of non-small cell lung cancer from 18F-FDG PET/CT images.

PubMed

Wang, Hongkai; Zhou, Zongwei; Li, Yingci; Chen, Zhonghua; Lu, Peiou; Wang, Wenzhi; Liu, Wanyu; Yu, Lijuan

2017-12-01

This study aimed to compare one state-of-the-art deep learning method and four classical machine learning methods for classifying mediastinal lymph node metastasis of non-small cell lung cancer (NSCLC) from 18 F-FDG PET/CT images. Another objective was to compare the discriminative power of the recently popular PET/CT texture features with the widely used diagnostic features such as tumor size, CT value, SUV, image contrast, and intensity standard deviation. The four classical machine learning methods included random forests, support vector machines, adaptive boosting, and artificial neural network. The deep learning method was the convolutional neural networks (CNN). The five methods were evaluated using 1397 lymph nodes collected from PET/CT images of 168 patients, with corresponding pathology analysis results as gold standard. The comparison was conducted using 10 times 10-fold cross-validation based on the criterion of sensitivity, specificity, accuracy (ACC), and area under the ROC curve (AUC). For each classical method, different input features were compared to select the optimal feature set. Based on the optimal feature set, the classical methods were compared with CNN, as well as with human doctors from our institute. For the classical methods, the diagnostic features resulted in 81~85% ACC and 0.87~0.92 AUC, which were significantly higher than the results of texture features. CNN's sensitivity, specificity, ACC, and AUC were 84, 88, 86, and 0.91, respectively. There was no significant difference between the results of CNN and the best classical method. The sensitivity, specificity, and ACC of human doctors were 73, 90, and 82, respectively. All the five machine learning methods had higher sensitivities but lower specificities than human doctors. The present study shows that the performance of CNN is not significantly different from the best classical methods and human doctors for classifying mediastinal lymph node metastasis of NSCLC from PET/CT images. Because CNN does not need tumor segmentation or feature calculation, it is more convenient and more objective than the classical methods. However, CNN does not make use of the import diagnostic features, which have been proved more discriminative than the texture features for classifying small-sized lymph nodes. Therefore, incorporating the diagnostic features into CNN is a promising direction for future research.

Melorheostosis of the ulna.

PubMed

Abdullah, Shalimar; Pang, Gerry M H; Mohamed-Haflah, Nor Hazla; Sapuan, Jamari

2011-10-01

Melorheostosis is a rare osteosclerotic bone dysplasia. It is usually characterized by dull and aching pain, reduced joint motion and contractures. Classic radiograph findings are of undulating cortical hyperostosis along the length of the bone, simulating a "dripping candlewax appearance". We report two cases of melorheostosis of the ulna bone, diagnosed 6 years apart in two different females in their early 20s. Both the patients presented with the characteristic features of dull and aching pain in the forearm and were treated conservatively. However, we misdiagnosed the first case as bone malignancy and subjected the patient to a biopsy. For the second case, with hindsight we made the correct diagnosis based only on the classic clinical history and radiographs. We believe that the discussion of a misdiagnosed case of melorheostosis with salient findings may be important for clinicians and orthopedicians in day-to-day clinical practice. Copyright © 2011. Published by Elsevier B.V.

[Dandy-Walker complex: a clinicopathologic study of 9 cases].

PubMed

Zhang, Xiao-bo; Gu, Yi-qun; Sun, Xiao-fei; Wang, Ying-nan; Wang, Ai-chun

2013-12-01

To investigate the etiology, pathogenesis, clinicopathologic characteristics, clinical prognosis and treatment of Dandy-Walker syndrome. Nine cases of Dandy-Walker syndrome were included in the study. The autopsy findings and clinical history were evaluated along with review of the literature. The causes, pathogenetic mechanism, pathologic features and prognosis of Dandy-Walker syndrome were analyzed. Among 9 Dandy-Walker syndrome cases, six patients presented with variants of Dandy-Walker complex and 3 cases had classic Dandy-Walker malformation. In addition, 4 patients presented with combined lateral ventricle expansion and multiple malformations were seen in 7 cases. Combined umbilical cord abnormality was noted in 4 patients with variant of Dandy-Walker complex and combined placental abnormality was seen in one classic Dandy-Walker syndrome. Dandy-Walker syndrome is a rare disease. In addition to complex pathogenesis with possible genetic and environmental antigenic etiologies, placental and umbilical cord abnormality may be also related to its development.

Exploring clinical wisdom in nursing education.

PubMed

McKie, Andrew; Baguley, Fiona; Guthrie, Caitrian; Jackson, Carol; Kirkpatrick, Pamela; Laing, Adele; O'Brien, Stephen; Taylor, Ruth; Wimpenny, Peter

2012-03-01

The recent interest in wisdom in professional health care practice is explored in this article. Key features of wisdom are identified via consideration of certain classical, ancient and modern sources. Common themes are discussed in terms of their contribution to 'clinical wisdom' itself and this is reviewed against the nature of contemporary nursing education. The distinctive features of wisdom (recognition of contextual factors, the place of the person and timeliness) may enable their significance for practice to be promoted in more coherent ways in nursing education. Wisdom as practical knowledge (phronesis) is offered as a complementary perspective within the educational preparation and practice of students of nursing. Certain limitations within contemporary UK nursing education are identified that may inhibit development of clinical wisdom. These are: the modularization of programmes in higher education institutions, the division of pastoral and academic support and the relationship between theory and practice.

Elephantiasis nostras verrucosa on the legs and abdomen with morbid obesity in an Indian lady.

PubMed

Sarma, Podila S; Ghorpade, Ashok

2008-12-15

Elephantiasis nostras verrucosa (ENV) of the legs and abdomen in a morbidly obese woman with multiple medical problems is reported. The diagnosis was suggested by the classical clinical features and confirmed by histopathology. The patient succumbed due to her multisystem diseases. Elephantiasis nostras verrucosa involving the abdomen is uncommon and has been reported only five times in the past.

A case of methylene chloride poisoning due to ingestion of home-distilled alcohol and potential new treatment with ethanol infusion.

PubMed

Vetro, Joseph; Koutsogiannis, Zeff; Jones, Daryl A; Canestra, Jane

2012-03-01

We describe a case of a 51-year-old man who ingested methylene chloride and presented with the classical clinical features. He developed an acute abdomen that required repeated laparotomy. The effect of an ethanol infusion on carboxyhaemoglobin concentrations in this case was also of interest and could potentially be a new treatment modality.

Constitutional trisomy 8 mosaicism syndrome: case report and review

PubMed Central

Udayakumar, Achandira M.; Al-Kindy, Adila

2013-01-01

Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder. PMID:27625859

Constitutional trisomy 8 mosaicism syndrome: case report and review.

PubMed

Udayakumar, Achandira M; Al-Kindy, Adila

2013-12-01

Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder.

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

PubMed

Bober, Michael B; Jackson, Andrew P

2017-04-01

This review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII). Over the last 15 years, significant strides have been made in the diagnosis, natural history, and management of MOPDII. MOPDII is the most common and well described form of MPD. The classic features of the MPD group are severe pre- and postnatal growth retardation, with marked microcephaly. In addition to these features, individuals with MOPDII have characteristic facies, skeletal dysplasia, abnormal dentition, and an increased risk for cerebrovascular disease and insulin resistance. Biallelic loss-of-function mutations in the pericentrin gene cause MOPDII, which is inherited in an autosomal recessive manner.

A case of hairy cell leukemia variant.

PubMed

Găman, Amelia Maria; Dobrea, Camelia Marioara; Găman, Mihnea Alexandru

2015-01-01

Hairy cell leukemia variant (HCLv) is a rare B-cell chronic lymphoproliferative disorder with features of the classic HCL but presenting some particularities, a poor response to conventional therapy of classic HCL and a more aggressive course of disease with shorter survival than classic HCL. We present a case of a 52-year-old man hospitalized in July 2012 in the Clinic of Hematology of Craiova, Romania, having splenomegaly, leukocytosis with lymphocytosis, anemia and thrombocytopenia, without monocytopenia, which exposed, in the peripheral blood and bone marrow cells, intermediate morphology between hairy cells and prolymphocytes and immunophenotype of mature B-cell phenotype CD19, CD20, CD22, CD11c, CD103, low positive for CD25 and negative for CD3, diagnosed with HCL variant, with no response to conventional chemotherapy and interferon-alpha, an aggressive course of disease and a survival of less than a year from diagnosis.

Granulomatous lobular mastitis: report of a case with previously undescribed histopathological abnormalities.

PubMed

Axelsen, R A; Reasbeck, P

1988-10-01

A 41-yr-old multiparous woman presented with a discrete breast lump which proved histologically to be an example of granulomatous lobular mastitis. The clinical and histological features were similar to those noted in previous reports. Additional histological features in the present case were an intense mononuclear cell infiltration of lobular and ductal epithelium, associated with nuclear fragments morphologically suggestive of apoptosis. These appearances, which have not previously been described, are illustrated, together with the more classical features of the condition well demonstrated by the present case. The novel histological features noted here suggest that the development of granulomatous lobular mastitis may be at least in part immunologically mediated, and that the cellular infiltrates seen may be a manifestation of cell-mediated destruction of mammary epithelium.

Classic of the Month. [Columns Compiled from Three Issues of "Notes Plus," September 1983 to January 1984.

ERIC Educational Resources Information Center

Notes Plus, 1984

1984-01-01

Three installments of "Classic of the Month," a regular feature of the National Council of Teachers of English publication, "Notes Plus," are presented in this compilation. Each installment of this feature is intended to provide teaching ideas related to a "classic" novel. The first article offers a variety of…

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

PubMed

Schönewolf-Greulich, B; Tejada, M-I; Stephens, K; Hadzsiev, K; Gauthier, J; Brøndum-Nielsen, K; Pfundt, R; Ravn, K; Maortua, H; Gener, B; Martínez-Bouzas, C; Piton, A; Rouleau, G; Clayton-Smith, J; Kleefstra, T; Bisgaard, A-M; Tümer, Z

2016-06-01

Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X-inactivation patterns in target tissues. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Novel histopathologic feature identified through image analysis augments stage II colorectal cancer clinical reporting

PubMed Central

Caie, Peter D.; Zhou, Ying; Turnbull, Arran K.; Oniscu, Anca; Harrison, David J.

2016-01-01

A number of candidate histopathologic factors show promise in identifying stage II colorectal cancer (CRC) patients at a high risk of disease-specific death, however they can suffer from low reproducibility and none have replaced classical pathologic staging. We developed an image analysis algorithm which standardized the quantification of specific histopathologic features and exported a multi-parametric feature-set captured without bias. The image analysis algorithm was executed across a training set (n = 50) and the resultant big data was distilled through decision tree modelling to identify the most informative parameters to sub-categorize stage II CRC patients. The most significant, and novel, parameter identified was the ‘sum area of poorly differentiated clusters’ (AreaPDC). This feature was validated across a second cohort of stage II CRC patients (n = 134) (HR = 4; 95% CI, 1.5– 11). Finally, the AreaPDC was integrated with the significant features within the clinical pathology report, pT stage and differentiation, into a novel prognostic index (HR = 7.5; 95% CI, 3–18.5) which improved upon current clinical staging (HR = 4.26; 95% CI, 1.7– 10.3). The identification of poorly differentiated clusters as being highly significant in disease progression presents evidence to suggest that these features could be the source of novel targets to decrease the risk of disease specific death. PMID:27322148

Incipient nonarteritic anterior ischemic optic neuropathy.

PubMed

Hayreh, Sohan Singh; Zimmerman, M Bridget

2007-09-01

To describe the clinical entity of incipient nonarteritic anterior ischemic optic neuropathy (NAION). Cohort study. Fifty-four patients (60 eyes) seen in our clinic from 1973 through 2000. At their first visit to our clinic, all patients gave a detailed ophthalmic and medical history and underwent a comprehensive ophthalmic evaluation, color fundus photography, and fluorescein fundus angiography. At each follow-up visit (of 49 patients [55 eyes]), the same ophthalmic evaluation was performed, except for fluorescein fundus angiography. Clinical features of incipient NAION. Mean age (+/- standard deviation) of the patients was 58.7+/-15.9 years. Median follow-up time was 6.3 years (interquartile range [IQR], 2.1-8.5). At initial visit, all had optic disc edema (ODE) without any visual loss attributable to NAION. In 55%, the fellow eye had classic NAION; in 25%, incipient progressed to classic NAION (after a median time of 5.8 weeks [IQR, 3.2-10.1]); and in 20%, classic NAION developed after resolution of the first episode of incipient NAION. Patients with incipient, compared with classic, NAION had a greater prevalence of diabetes mellitus (P<0.0001) and lower prevalence of ischemic heart disease (P = 0.046). Patients who progressed to classic NAION versus those who did not were significantly younger (P = 0.025), and their visual acuity worsened in 31% and 0%, respectively, and remained stable in 62% and 98%, respectively; in the eyes with progression, central (in 31%) and peripheral (in 77%) visual fields worsened compared with only 1 eye and 2 eyes, respectively, that did not (P = 0.01 and P<0.0001, respectively); and median time to resolution of ODE in the progressed group was 5.8 weeks (IQR, 4.6-8.7) versus 9.6 weeks (IQR, 6.0-17.7) in those who did not progress. The results show that incipient NAION is a distinct clinical entity, with asymptomatic ODE and no visual loss attributable to NAION. When a patient seeks treatment with asymptomatic ODE, incipient NAION must be borne in mind as a strong possibility in those who have had classic NAION in the fellow eye, in diabetics of all ages, and in those with high risk factors for NAION; this can avoid unnecessary and expensive investigations.

Biomarker-driven phenotyping in Parkinson disease: a translational missing link in disease-modifying clinical trials

PubMed Central

Espay, Alberto J.; Schwarzschild, Michael A.; Tanner, Caroline M.; Fernandez, Hubert H; Simon, David K.; Leverenz, James B.; Merola, Aristide; Chen-Plotkin, Alice; Brundin, Patrik; Kauffman, Marcelo A.; Erro, Roberto; Kieburtz, Karl; Woo, Daniel; Macklin, Eric A.; Standaert, David G.; Lang, Anthony E.

2016-01-01

Past clinical trials of putative neuroprotective therapies have targeted Parkinson disease (PD) as a single pathogenic disease entity. From an Oslerian clinico-pathologic perspective, the wide complexity of PD converges into Lewy bodies and justifies a reductionist approach to PD: a single-mechanism therapy can affect most of those sharing the classic pathologic hallmark. From a systems-biology perspective, PD is a group of disorders that, while related by sharing the feature of nigral dopamine-neuron degeneration, exhibit unique genetic, biological and molecular abnormalities, which probably respond differentially to a given therapeutic approach, particularly for strategies aimed at neuroprotection. Under this model, only biomarker-defined, homogenous subtypes of PD are likely to respond optimally to therapies proven to affect the biological processes within each subtype. Therefore, we suggest that precision medicine applied to PD requires a reevaluation of the biomarker-discovery effort. This effort is currently centered on correlating biological measures to clinical features of PD and on identifying factors that predict whether various prodromal states will convert into the classical movement disorder. We suggest, instead, that subtyping of PD requires the reverse view, where abnormal biological signals (i.e., biomarkers) rather than clinical definitions are used to define disease phenotypes. Successful development of disease-modifying strategies will depend on how relevant the specific biological processes addressed by an intervention are to the pathogenetic mechanisms in the subgroup of targeted patients. This precision-medicine approach will likely yield smaller but well-defined subsets of PD amenable to successful neuroprotection. PMID:28233927

Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia

PubMed Central

Davis, Stephanie D.; Ferkol, Thomas; Dell, Sharon D.; Rosenfeld, Margaret; Olivier, Kenneth N.; Sagel, Scott D.; Milla, Carlos; Zariwala, Maimoona A.; Wolf, Whitney; Carson, Johnny L.; Hazucha, Milan J.; Burns, Kimberlie; Robinson, Blair; Knowles, Michael R.; Leigh, Margaret W.

2014-01-01

BACKGROUND: Motile cilia dysfunction causes primary ciliary dyskinesia (PCD), situs inversus totalis (SI), and a spectrum of laterality defects, yet the prevalence of laterality defects other than SI in PCD has not been prospectively studied. METHODS: In this prospective study, participants with suspected PCD were referred to our multisite consortium. We measured nasal nitric oxide (nNO) level, examined cilia with electron microscopy, and analyzed PCD-causing gene mutations. Situs was classified as (1) situs solitus (SS), (2) SI, or (3) situs ambiguus (SA), including heterotaxy. Participants with hallmark electron microscopic defects, biallelic gene mutations, or both were considered to have classic PCD. RESULTS: Of 767 participants (median age, 8.1 years, range, 0.1-58 years), classic PCD was defined in 305, including 143 (46.9%), 125 (41.0%), and 37 (12.1%) with SS, SI, and SA, respectively. A spectrum of laterality defects was identified with classic PCD, including 2.6% and 2.3% with SA plus complex or simple cardiac defects, respectively; 4.6% with SA but no cardiac defect; and 2.6% with an isolated possible laterality defect. Participants with SA and classic PCD had a higher prevalence of PCD-associated respiratory symptoms vs SA control participants (year-round wet cough, P < .001; year-round nasal congestion, P = .015; neonatal respiratory distress, P = .009; digital clubbing, P = .021) and lower nNO levels (median, 12 nL/min vs 252 nL/min; P < .001). CONCLUSIONS: At least 12.1% of patients with classic PCD have SA and laterality defects ranging from classic heterotaxy to subtle laterality defects. Specific clinical features of PCD and low nNO levels help to identify PCD in patients with laterality defects. TRIAL REGISTRY: ClinicalTrials.gov; No.: NCT00323167; URL: www.clinicaltrials.gov PMID:24577564

Rett Syndrome: Revised Diagnostic Criteria and Nomenclature

PubMed Central

Neul, Jeffrey L.; Kaufmann, Walter E.; Glaze, Daniel G.; Christodoulou, John; Clarke, Angus J.; Bahi-Buisson, Nadia; Leonard, Helen; Bailey, Mark E. S.; Schanen, N. Carolyn; Zappella, Michele; Renieri, Alessandra; Huppke, Peter; Percy, Alan K.

2010-01-01

Objective Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials. Method RettSearch members, representing the majority of the international clinical RTT specialists, participated in an iterative process to come to a consensus on a revised and simplified clinical diagnostic criteria for RTT. Results The clinical criteria required for the diagnosis of classic and atypical RTT were clarified and simplified. Guidelines for the diagnosis and molecular evaluation of specific variant forms of RTT were developed. Interpretation These revised criteria provide clarity regarding the key features required for the diagnosis of RTT and reinforce the concept that RTT is a clinical diagnosis based on distinct clinical criteria, independent of molecular findings. We recommend that these criteria and guidelines be utilized in any proposed clinical research. PMID:21154482

On subclasses of opioid analgesics.

PubMed

Raffa, Robert B

2014-12-01

The history of discovery of analgesic drugs has followed a trajectory from original serendipitous discovery of plant-derived substances to laboratory creation of customized molecules that are intentionally designed to interact with specific receptors of neurotransmitters involved in either the transmission of the pain signal or the attenuation of such a signal. The drugs most recently developed have been designed to provide incremental greater separation between pain relief and adverse effects. The result has been drugs that have individualized pharmacodynamic and pharmacokinetic characteristics that represent specific advances in basic science and translate into unique clinical profiles. Several of the drugs include non-opioid components. They retain some of the features of opioids, but have distinct clinical characteristics that differentiate them from traditional opioids. Thus they defy simple classification as opioids. A summary is provided of the development of the modern view of multi-mechanistic pain and its treatment using analgesics that have multi-mechanisms of action (consisting of both opioid and non-opioid components). Descriptions of examples of such current analgesics and of those that have pharmacokinetic characteristics that result in atypical opioid clinical profiles are given. By serendipity or design, several current strong analgesics have opioid components of action, but have an additional non-opioid mechanism of action or some pharmacokinetic feature that gives them an atypical opioid clinical profile and renders them not easily classified as classical opioids. An appreciation that there are now opioid analgesics that differentiate from classical opioids in ways that defy their simplistic classification as opioids suggests that recognition of subclasses of opioid analgesics would be more accurate scientifically and would be more informative for healthcare providers and regulators. This would likely lead to positive outcomes for the clinical use and regulatory control of the current drugs, and provide direction/strategy for the discovery of new drugs.

A pediatric intramedullary spinal cord tumor with unusual solid-cystic and papillary features: a case report.

PubMed

Iwasaki, Takeshi; Kato, Masako; Horie, Yasushi; Kato, Shinsuke; Akatsuka, Keiichi; Watanabe, Takashi; Kuwamoto, Satoshi; Murakami, Ichiro; Hayashi, Kazuhiko

2011-12-01

Spinal cord tumors are rare in children. We report a novel case of pediatric intramedullary spinal cord tumor with unusual solid-cystic and papillary features. Clinically, the patient presented at the age of 3 years with motor deficit and urinary incontinence, and MRI demonstrated multilocular cystic lesions in the thoracic spine. Histologically the tumor consisted of solid, sheet-like components and branching papillary structures, and immunohistochemistry demonstrated positive reactivity for epithelial membrane antigen, cytokeratins (7, AE1/3, CAM5.2), E-cadherin and transthyretin, and negativity for GFAP, S-100 protein, synaptophysin and neurofilament. These histological and immunohistochemical findings appeared to be unique, and were not compatible with the features of classical ependymoma or choroid plexus papilloma. The clinical behavior, characterized by relatively rapid tumor regrowth after surgical resection and a relatively high MIB-1 labeling index, suggest that this tumor might have had moderate malignant potential. This pediatric case appears to be particularly informative with regard to the tumor biology or tumorigenesis of intramedullary spinal cord tumor with unusual solid-cystic and papillary features. © 2011 Japanese Society of Neuropathology.

Primary Sjogren's syndrome with central nervous system involvement.

PubMed

Alhomoud, Iftetah A; Bohlega, Saeed A; Alkawi, Mohammed Z; Alsemari, Abdulaziz M; Omer, Saleh M; Alsenani, Fahmi M

2009-08-01

To describe the clinical, laboratory, and radiological features of Primary Sjogren's syndrome (PSS) with central nervous system (CNS) involvement. A retrospective case series of 12 female patients with PSS and CNS involvement at King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia from 1991-2009. The diagnosis of PSS is defined by the American-European Diagnostic Criteria. We analyzed the clinical, radiological, and immunological features. The mean age was 40 years (range 16-58 years); all patient were females and presented with active neurological symptoms. The neurological involvement preceded the classic sicca symptoms (33%). Eight patients (66%) presented with myelopathy, 9 patients (75%) had optic neuritis, and the rest had variable neurological signs. Immunological tests (anti-Sjogren's syndrome A and anti-Sjogren's syndrome B) were high in 7 patients (58%). Minor salivary gland biopsy revealed inflammatory cell infiltrate in 11 patients (92%). Brain MRI showed scattered white matter changes in 7 patients (58%). Spine MRI showed multiple foci of hyperintensity in T2-weighted image in 6 patients (50%), and long segment of hyperintensity at the cervical spinal cord in 2 patients (16%). Our findings demonstrate that CNS involvements in PSS have great clinical variability and could precede the classic sicca symptoms by years. Primary Sjogren's syndrome can mimic multiple sclerosis (primary progressive multiple sclerosis or relapsing remitting multiple sclerosis), therefore a screening test for PSS should be considered in suspected cases. A well-defined management protocol awaits studies with larger case numbers.

Clinical Features and Prognostic Factors of Hodgkin's Lymphoma: A Single Center Experience.

PubMed

Kılıçkap, Saadettin; Barışta, Ibrahim; Ulger, Sükran; Celik, Ismail; Selek, Uğur; Yıldız, Ferah; Kars, Ayşe; Ozışık, Yavuz; Tekuzman, Gülten

2013-06-01

Hodgkin's lymphoma (HL) is a B cell lymphoma characterized by the presence of Reed-Sternberg cells. HL comprises 1% of all cancer cases and 14% of all lymphoma cases. We designed a retrospective study to investigate the clinical features and prognostic factors of HL patients diagnosed at an experienced oncology centre. Retrospective study. Demographic characteristics, histopathological and clinical features, treatment modalities and response to treatment were obtained from hospital records. Dates of initial diagnosis, remission and relapse, last visit and death were recorded for survival analyses. We analysed data of 391 HL patients (61% male, 39% female; mean age 35.7±15.1 years). The most common classical HL histological subtype was nodular sclerosing HL (NSHL) (42.7%). The most common stage was II 50.4%. The most common chemotherapy regimen was doxorubicin, bleomycin, vinblastine and dacarbazine (ABVD) (70.6%). Five and 10-year survival rates were 90% and 84%, respectively. Early-stage patients with good prognostic factors had better overall and relapse-free survival rates. The presence of "B" symptoms, albumin level, Eastern Cooperative Oncology Group (ECOG) performance score, and LDH were prognostic factors that affect the survival in both univariate and multivariate analyses. This is the first study that demonstrates the demographic, clinical and prognostic features of HL patients in Turkey, and provides a general picture of the HL patients in our country.

TU-F-CAMPUS-J-02: Evaluation of Textural Feature Extraction for Radiotherapy Response Assessment of Early Stage Breast Cancer Patients Using Diffusion Weighted MRI and Dynamic Contrast Enhanced MRI

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

Xie, Y; Wang, C; Horton, J

Purpose: To investigate the feasibility of using classic textural feature extraction in radiotherapy response assessment, we studied a unique cohort of early stage breast cancer patients with paired pre - and post-radiation Diffusion Weighted MRI (DWI-MRI) and Dynamic Contrast Enhanced MRI (DCE-MRI). Methods: 15 female patients from our prospective phase I trial evaluating preoperative radiotherapy were included in this retrospective study. Each patient received a single-fraction radiation treatment, and DWI and DCE scans were conducted before and after the radiotherapy. DWI scans were acquired using a spin-echo EPI sequence with diffusion weighting factors of b = 0 and b =more » 500 mm{sup 2} /s, and the apparent diffusion coefficient (ADC) maps were calculated. DCE-MRI scans were acquired using a T{sub 1}-weighted 3D SPGR sequence with a temporal resolution of about 1 minute. The contrast agent (CA) was intravenously injected with a 0.1 mmol/kg bodyweight dose at 2 ml/s. Two parameters, volume transfer constant (K{sup trans} ) and k{sub ep} were analyzed using the two-compartment Tofts kinetic model. For DCE parametric maps and ADC maps, 33 textural features were generated from the clinical target volume (CTV) in a 3D fashion using the classic gray level co-occurrence matrix (GLCOM) and gray level run length matrix (GLRLM). Wilcoxon signed-rank test was used to determine the significance of each texture feature’s change after the radiotherapy. The significance was set to 0.05 with Bonferroni correction. Results: For ADC maps calculated from DWI-MRI, 24 out of 33 CTV features changed significantly after the radiotherapy. For DCE-MRI pharmacokinetic parameters, all 33 CTV features of K{sup trans} and 33 features of k{sub ep} changed significantly. Conclusion: Initial results indicate that those significantly changed classic texture features are sensitive to radiation-induced changes and can be used for assessment of radiotherapy response in breast cancer.« less

Psychogenic Tremor: A Video Guide to Its Distinguishing Features

PubMed Central

Thenganatt, Mary Ann; Jankovic, Joseph

2014-01-01

Background Psychogenic tremor is the most common psychogenic movement disorder. It has characteristic clinical features that can help distinguish it from other tremor disorders. There is no diagnostic gold standard and the diagnosis is based primarily on clinical history and examination. Despite proposed diagnostic criteria, the diagnosis of psychogenic tremor can be challenging. While there are numerous studies evaluating psychogenic tremor in the literature, there are no publications that provide a video/visual guide that demonstrate the clinical characteristics of psychogenic tremor. Educating clinicians about psychogenic tremor will hopefully lead to earlier diagnosis and treatment. Methods We selected videos from the database at the Parkinson’s Disease Center and Movement Disorders Clinic at Baylor College of Medicine that illustrate classic findings supporting the diagnosis of psychogenic tremor. Results We include 10 clinical vignettes with accompanying videos that highlight characteristic clinical signs of psychogenic tremor including distractibility, variability, entrainability, suggestibility, and coherence. Discussion Psychogenic tremor should be considered in the differential diagnosis of patients presenting with tremor, particularly if it is of abrupt onset, intermittent, variable and not congruous with organic tremor. The diagnosis of psychogenic tremor, however, should not be simply based on exclusion of organic tremor, such as essential, parkinsonian, or cerebellar tremor, but on positive criteria demonstrating characteristic features. Early recognition and management are critical for good long-term outcome. PMID:25243097

Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott-Aldrich syndrome.

PubMed

Vignesh, Pandiarajan; Suri, Deepti; Rawat, Amit; Lau, Yu Lung; Bhatia, Anmol; Das, Ashim; Srinivasan, Anirudh; Dhandapani, Sivashanmugam

2017-01-01

Patients with Wiskott-Aldrich syndrome (WAS) are predisposed to malignancy and autoimmunity in addition to infections. We report a male child with WAS, who had presented with recurrent pneumonia, eczema, thrombocytopenia, autoimmune hemolytic anemia, and vasculitic skin lesions. Genetic analysis revealed a classical genotype WAS 155C>T; R41X. At 2 years of follow-up, he developed persistent headache and progressive hepatomegaly. Brain imaging showed a mass in the right frontal region, which on histopathology was shown to be high-grade non-Hodgkin lymphoma. Magnetic resonance cholangiopancreatography showed features of sclerosing cholangitis. This report extends the clinical spectrum and highlights unusual manifestations of sclerosing cholangitis and intracranial lymphoma in a patient with WAS. © 2016 Wiley Periodicals, Inc.

Rat Bite Fever and Streptobacillus moniliformis

PubMed Central

Elliott, Sean P.

2007-01-01

Rat bite fever, caused by Streptobacillus moniliformis, is a systemic illness classically characterized by fever, rigors, and polyarthralgias. If left untreated, it carries a mortality rate of 10%. Unfortunately, its nonspecific initial presentation combined with difficulties in culturing its causative organism produces a significant risk of delay or failure in diagnosis. The increasing popularity of rats and other rodents as pets, together with the risk of invasive or fatal disease, demands increased attention to rat bite fever as a potential diagnosis. The clinical and biological features of rat bite fever and Streptobacillus moniliformis are reviewed, providing some distinguishing features to assist the clinician and microbiologist in diagnosis. PMID:17223620

Characterization of the Pathological and Biochemical Markers that Correlate to the Clinical Features of Autism

DTIC Science & Technology

2012-08-01

system in relation to its evolution, structure and function . New York: CRC Press 1997 American Psychiatric Association. Diagnostic and statistical...Hesslow G, Yeo CH. The functional anatomy of skeletal conditioning. In: Moore JW, Editor. A neuroscientist’s guide to classical conditioning. New ...1995; Selkoe, 2001). Aβ is generated and detected in the endoplasmic reticulum/ Golgi apparatus and endosomal-lysosomal pathway (Cook D.G. et al., 1997

Use of Tc-99 m thyroid scans in borderline congenital hypothyroidism.

PubMed

Oren, Asaf; Wang, Michael Ke; Brnjac, Lori; Mahmud, Farid H; Palmert, Mark R

2016-03-01

Mild or borderline congenital hypothyroidism [often referred to as mild neonatal hyperthyrotropinemia (MNH)] is characterized by an abnormal newborn screen (NBS), followed by mildly elevated TSH and normal FT4 on confirmatory testing. This condition is increasingly observed, but data regarding optimal management are limited. Examine the use of routine technetium thyroid scanning (TS) in the management of MNH. Retrospective study of infants with MNH between 2000 and 2011. We assessed the clinical course of infants with MNH according to TS results; as a comparator, infants with classic congenital hypothyroidism (CH) were analysed in parallel. We identified 69 infants (52% boys) with MNH and 164 (34% boys) with classic CH. TS results were divided into four subgroups: no uptake in 7% of MNH vs 24% of classic CH (P < 0·01), decreased uptake/anatomical abnormalities in 39% vs 46% (p = NS), increased uptake in 35% vs 26% (p = NS) and normal uptake in 19% vs 4% (P < 0·01). In MNH, neither NBS-TSH, confirmatory TSH and FT4, mean LT-4 treatment doses and number of dose escalations, nor post-treatment FT4 and TSH differed among the four subgroups. In contrast, clinical features in infants with classic CH differed among the subgroups. Among MNH infants who reached 3 years of age, trial-off treatment was successful in 6 of 11 (55%) with no apparent difference in success rates among TS subgroups. The information provided by TS during evaluation of MNH does not predict clinical course; obtaining these scans in infants with MNH may not be an effective use of healthcare resources. © 2015 John Wiley & Sons Ltd.

Massive pericardial effusion associated with hypothyroidism.

PubMed

Ionescu, Simona Daniela; Tănase, Daniela Maria; Ouatu, Anca; Ambăruş, V; Dosa, Anca; Arsenescu-Georgescu, Cătălina

2014-01-01

The diagnosis of hypothyroidism is difficult because hypothyroidism in adults and especially the elderly, classic, has an insidious onset with a range of nonspecific symptoms which may delay diagnosis for months or even years. Old age seems to represent trigger factor for autoimmune diseases, including hypothyroidism. Clinical features in hypothyroidism, such as weight gain, fatigue, cold intolerance, constipation, dry skin, edema and muscle weakness, and decreased osteo-tendinous reflexes are usually subtle and can be overlooked. Thyroid dysfunction may be associated with a negative impact on the cardiovascular system. Pericardial, pleural and peritoneal effusions are common findings in hypothyroidism. This case report represents a typical primary hypothyroidism (autoimmune) and shows the clinical features of this disease. Basically we talked about a severe myxedema with the involvement of internal organs in an elderly woman and the euthyroidism restoration, under thyroid replacement therapy, was correlated with the clinical improvement and cardiovascular and neurological status, with radiographic remission and regression to extinction of pericardial effusion at repeated echocardiographic evaluations.

Persistent Hiccups-An Unusual Presentation of Bilateral Pheochromocytoma without Syndromic Association: A Case Report.

PubMed

Aherrao, Nitin; Kumar, Nilesh; Gambhir, Indarajeet Singh; Kishore, Dhiraj; Singh, Suryakumar; Mishra, Abhinandan; Anand, Aravind

2012-01-01

Pheochromocytoma is a rare catecholamine-producing tumor arising from chromaffin tissue in the adrenal medulla, occurring in less than 0.2 percent of patients with hypertension. The mean age at diagnosis is about 40 years. Pheochromocytomas are commonly inherited as features of multiple endocrine neoplasia type 2 or several other pheochromocytoma-associated syndromes and have variable clinical presentation. Among the presenting symptoms, episodes of palpitations, headaches, and profuse sweating are typical and constitute a classic triad. We report a case of a 17-year-old male patient with rare bilateral pheochromocytoma presenting with persistent hiccups for 4 months and blurring of vision for 1 week, later followed by hypertensive crisis. There was neither family history of pheochromocytoma nor any classic symptoms. Patient was diagnosed with bilateral pheochromocytoma without any syndromic association. But still this patient needs to be followed for future development of medullary carcinoma of thyroid because it could be an initial presentation of MEN 2A/2B/VHL syndromes. Our paper highlights the importance of maintaining a high level of suspicion for persistent hiccups and careful clinical screening for hypertension even in absence of associated syndromes of pheochromocytoma and classical symptoms to achieve prompt diagnosis and to avoid improper management.

Ehlers-Danlos syndrome, classical type.

PubMed

Bowen, Jessica M; Sobey, Glenda J; Burrows, Nigel P; Colombi, Marina; Lavallee, Mark E; Malfait, Fransiska; Francomano, Clair A

2017-03-01

Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised in Villefranche in 1997. [Beighton et al. (1998); Am J Med Genet 77:31-37]. The aims set out in the Villefranche Criteria were: to enable diagnostic uniformity for clinical and research purposes, to understand the natural history of each subtype of EDS, to inform management and genetic counselling, and to identify potential areas of research. The authors recognized that the criteria would need updating, but viewed the Villefranche nosology as a good starting point. Since 1997, there have been major advances in the molecular understanding of classical EDS. Previous question marks over genetic heterogeneity have been largely surpassed by evidence that abnormalities in type V collagen are the cause. Advances in molecular testing have made it possible to identify the causative mutation in the majority of patients. This has aided the further clarification of this diagnosis. The aim of this literature review is to summarize the current knowledge and highlight areas for future research. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

PANCHAKARMA THERAPY IN SHOOLA ROGA

PubMed Central

Mishra, S.S.

2001-01-01

Shoola roga has been described in Ayurvedic Classics as a painful abdominal disease associated with other clinical features but without any obvious localized swelling. The various remedies described by the Ayurvedic authorities are mainly to normalize the Vata dosha in all types of shoola roga. Panchakarma therapy always plays an important role in normalizing the Vata dosha, Although every panchakarma procedure is not indicated for each type of shoola still panchakarma therapy is good for shoola roga treatment. PMID:22557031

Severe Craniofacial Involvement due to Amniotic Band Sequence.

PubMed

Becerra-Solano, Luis Eduardo; Castañeda-Cisneros, Gema; Corona-Rivera, Jorge Roman; Díaz-Rodríguez, Manuel; Figuera, Luis Eduardo; López-Muñoz, Eunice; Nastasi-Catanese, José Antonio; Toscano-Flores, José Jesús; Ramírez-Dueñas, María de Lourdes; García-Ortíz, José Elias

2018-02-01

Disruptive amniotic band sequence (DABS) is a sporadic, non-familial disorder with unclear etiology. Diagnosis is based on clinical features because there is currently no reliable laboratory diagnostic tests. We describe six cases of DABS with severe craniofacial deformations, three with and three without classical constrictive limb deformation. The craniofacial deformities were delimited by peripheral sharply demarcated scarring. When a sharply demarcated linear disruptive craniofacial lesion is observed, DABS should be considered despite the absence of constrictive limb scarring.

Neurologic and neuropsychiatric syndrome features of mold and mycotoxin exposure.

PubMed

Empting, L D

2009-01-01

Human exposure to molds, mycotoxins, and water-damaged buildings can cause neurologic and neuropsychiatric signs and symptoms. Many of these clinical features can partly mimic or be similar to classic neurologic disorders including pain syndromes, movement disorders, delirium, dementia, and disorders of balance and coordination. In this article, the author delineates the signs and symptoms of a syndrome precipitated by mold and mycotoxin exposure and contrasts and separates these findings neurodiagnostically from known neurologic diseases. This clinical process is designed to further the scientific exploration of the underlying neuropathophysiologic processes and to promote better understanding of effects of mold/mycotoxin/water-damaged buildings on the human nervous system and diseases of the nervous system. It is clear that mycotoxins can affect sensitive individuals, and possibly accelerate underlying neurologic/pathologic processes, but it is crucial to separate known neurologic and neuropsychiatric disorders from mycotoxin effects in order to study it properly.

Diffuse Lewy body disease: clinical features in 15 cases.

PubMed Central

Byrne, E J; Lennox, G; Lowe, J; Godwin-Austen, R B

1989-01-01

Fifteen cases of diffuse Lewy body disease were diagnosed on pathological grounds during a single year in one health district. The range and frequency of clinical features contrast strikingly with previous reports. The majority of cases presented with classical levodopa-responsive Parkinson's disease either alone (6 cases) or with mild cognitive impairment (3 cases); the remaining 6 cases presented with cognitive impairment alone. In time almost all patients developed both dementia and Parkinsonism. The dementia was cortical in type, but unusual in that most (12 cases) showed day-to-day fluctuation in severity at some point in their illness. These findings suggest that diffuse Lewy body disease is not rare, and that it presents in a range of ways from dementia with subsequent Parkinsonism to Parkinson's disease with subsequent dementia. The latter mode of presentation suggests that it should be considered as a significant pathological substrate of dementia in Parkinson's disease. Images PMID:2545827

Pseudoephedrine may cause "pigmenting" fixed drug eruption.

PubMed

Ozkaya, Esen; Elinç-Aslan, Meryem Sevinç

2011-05-01

Fixed drug eruption (FDE) is a distinctive drug eruption characterized by recurrent well-defined lesions in the same location each time the responsible drug is taken. Two different clinical forms have been described: the common classic pigmenting form and the rare nonpigmenting form. Nonpigmenting FDE is mainly characterized by symmetrical large erythematous plaques and the dermal histopathologic reaction pattern. Pseudoephedrine is known as the major inducer of nonpigmenting FDE. Pigmenting FDE from pseudoephedrine has not been reported previously. Here, the first case of pseudoephedrine-induced pigmenting FDE is reported, showing the characteristic features of classic pigmenting FDE such as asymmetry, normal-sized lesions, and the epidermodermal histopathologic reaction pattern. Moreover, a positive occlusive patch-test reaction to pseudoephedrine could be demonstrated on postlesional FDE skin for the first time.

Clinical Features and Prognostic Factors of Hodgkin’s Lymphoma: A Single Center Experience

PubMed Central

Kılıçkap, Saadettin; Barışta, İbrahim; Ülger, Şükran; Çelik, İsmail; Selek, Uğur; Yıldız, Ferah; Kars, Ayşe; Özışık, Yavuz; Tekuzman, Gülten

2013-01-01

Background: Hodgkin’s lymphoma (HL) is a B cell lymphoma characterized by the presence of Reed-Sternberg cells. HL comprises 1% of all cancer cases and 14% of all lymphoma cases. Aims: We designed a retrospective study to investigate the clinical features and prognostic factors of HL patients diagnosed at an experienced oncology centre. Study Design: Retrospective study. Methods: Demographic characteristics, histopathological and clinical features, treatment modalities and response to treatment were obtained from hospital records. Dates of initial diagnosis, remission and relapse, last visit and death were recorded for survival analyses. Results: We analysed data of 391 HL patients (61% male, 39% female; mean age 35.7±15.1 years). The most common classical HL histological subtype was nodular sclerosing HL (NSHL) (42.7%). The most common stage was II 50.4%. The most common chemotherapy regimen was doxorubicin, bleomycin, vinblastine and dacarbazine (ABVD) (70.6%). Five and 10-year survival rates were 90% and 84%, respectively. Early-stage patients with good prognostic factors had better overall and relapse-free survival rates. The presence of “B” symptoms, albumin level, Eastern Cooperative Oncology Group (ECOG) performance score, and LDH were prognostic factors that affect the survival in both univariate and multivariate analyses. Conclusion: This is the first study that demonstrates the demographic, clinical and prognostic features of HL patients in Turkey, and provides a general picture of the HL patients in our country. PMID:25207097

Pruritus is a common feature in sheep infected with the BSE agent

PubMed Central

Konold, Timm; Bone, Gemma; Vidal-Diez, Alberto; Tortosa, Raul; Davis, Andrew; Dexter, Glenda; Hill, Peter; Jeffrey, Martin; Simmons, Marion M; Chaplin, Melanie J; Bellworthy, Susan J; Berthelin-Baker, Christine

2008-01-01

Background The variability in the clinical or pathological presentation of transmissible spongiform encephalopathies (TSEs) in sheep, such as scrapie and bovine spongiform encephalopathy (BSE), has been attributed to prion protein genotype, strain, breed, clinical duration, dose, route and type of inoculum and the age at infection. The study aimed to describe the clinical signs in sheep infected with the BSE agent throughout its clinical course to determine whether the clinical signs were as variable as described for classical scrapie in sheep. The clinical signs were compared to BSE-negative sheep to assess if disease-specific clinical markers exist. Results Forty-seven (34%) of 139 sheep, which comprised 123 challenged sheep and 16 undosed controls, were positive for BSE. Affected sheep belonged to five different breeds and three different genotypes (ARQ/ARQ, VRQ/VRQ and AHQ/AHQ). None of the controls or BSE exposed sheep with ARR alleles were positive. Pruritus was present in 41 (87%) BSE positive sheep; the remaining six were judged to be pre-clinically infected. Testing of the response to scratching along the dorsum of a sheep proved to be a good indicator of clinical disease with a test sensitivity of 85% and specificity of 98% and usually coincided with weight loss. Clinical signs that were displayed significantly earlier in BSE positive cases compared to negative cases were behavioural changes, pruritic behaviour, a positive scratch test, alopecia, skin lesions, teeth grinding, tremor, ataxia, loss of weight and loss of body condition. The frequency and severity of each specific clinical sign usually increased with the progression of disease over a period of 16–20 weeks. Conclusion Our results suggest that BSE in sheep presents with relatively uniform clinical signs, with pruritus of increased severity and abnormalities in behaviour or movement as the disease progressed. Based on the studied sheep, these clinical features appear to be independent of breed, affected genotype, dose, route of inoculation and whether BSE was passed into sheep from cattle or from other sheep, suggesting that the clinical phenotype of BSE is influenced by the TSE strain more than by other factors. The clinical phenotype of BSE in the genotypes and breed studied was indistinguishable from that described for classical scrapie cases. PMID:18445253

Clinical and Histologic Mimickers of Celiac Disease.

PubMed

Kamboj, Amrit K; Oxentenko, Amy S

2017-08-17

Celiac disease is an autoimmune disorder of the small bowel, classically associated with diarrhea, abdominal pain, and malabsorption. The diagnosis of celiac disease is made when there are compatible clinical features, supportive serologic markers, representative histology from the small bowel, and response to a gluten-free diet. Histologic findings associated with celiac disease include intraepithelial lymphocytosis, crypt hyperplasia, villous atrophy, and a chronic inflammatory cell infiltrate in the lamina propria. It is important to recognize and diagnose celiac disease, as strict adherence to a gluten-free diet can lead to resolution of clinical and histologic manifestations of the disease. However, many other entities can present with clinical and/or histologic features of celiac disease. In this review article, we highlight key clinical and histologic mimickers of celiac disease. The evaluation of a patient with serologically negative enteropathy necessitates a carefully elicited history and detailed review by a pathologist. Medications can mimic celiac disease and should be considered in all patients with a serologically negative enteropathy. Many mimickers of celiac disease have clues to the underlying diagnosis, and many have a targeted therapy. It is necessary to provide patients with a correct diagnosis rather than subject them to a lifetime of an unnecessary gluten-free diet.

Rare primary headaches: clinical insights.

PubMed

Casucci, G; d'Onofrio, F; Torelli, P

2004-10-01

So-called "rare" headaches, whose prevalence rate is lower than 1% or is not known at all and have been reported in only a few dozen cases to date, constitute a very heterogeneous group. Those that are best characterised from the clinical point of view can be classified into forms with prominent autonomic features and forms with sparse or no autonomic features. Among the former are trigeminal autonomic cephalalgias (TACs) and hemicrania continua, while the latter comprise classical trigeminal neuralgia, hypnic headache, primary thunderclap headache, and exploding head syndrome. The major clinical discriminating factor for the differential diagnosis of TACs is the relationship between duration and frequency of attacks: the forms in which pain is shorter lived are those with the higher frequency of daily attacks. Other aspects to be considered are the time pattern of symptoms, intensity and timing of attacks, the patient's behaviour during the attacks, the presence of any triggering factors and of the refractory period after an induced attack, and response to therapy, especially with indomethacin. Often these are little known clinical entities, which are not easily detected in clinical practice. For some of them, e. g., thunderclap headache, it is always necessary to perform instrumental tests to exclude the presence of underlying organic diseases.

Quantitative radiomic profiling of glioblastoma represents transcriptomic expression.

PubMed

Kong, Doo-Sik; Kim, Junhyung; Ryu, Gyuha; You, Hye-Jin; Sung, Joon Kyung; Han, Yong Hee; Shin, Hye-Mi; Lee, In-Hee; Kim, Sung-Tae; Park, Chul-Kee; Choi, Seung Hong; Choi, Jeong Won; Seol, Ho Jun; Lee, Jung-Il; Nam, Do-Hyun

2018-01-19

Quantitative imaging biomarkers have increasingly emerged in the field of research utilizing available imaging modalities. We aimed to identify good surrogate radiomic features that can represent genetic changes of tumors, thereby establishing noninvasive means for predicting treatment outcome. From May 2012 to June 2014, we retrospectively identified 65 patients with treatment-naïve glioblastoma with available clinical information from the Samsung Medical Center data registry. Preoperative MR imaging data were obtained for all 65 patients with primary glioblastoma. A total of 82 imaging features including first-order statistics, volume, and size features, were semi-automatically extracted from structural and physiologic images such as apparent diffusion coefficient and perfusion images. Using commercially available software, NordicICE, we performed quantitative imaging analysis and collected the dataset composed of radiophenotypic parameters. Unsupervised clustering methods revealed that the radiophenotypic dataset was composed of three clusters. Each cluster represented a distinct molecular classification of glioblastoma; classical type, proneural and neural types, and mesenchymal type. These clusters also reflected differential clinical outcomes. We found that extracted imaging signatures does not represent copy number variation and somatic mutation. Quantitative radiomic features provide a potential evidence to predict molecular phenotype and treatment outcome. Radiomic profiles represents transcriptomic phenotypes more well.

Modification of hormonal secretion in clinically silent pituitary adenomas.

PubMed

Daems, Tania; Verhelst, Johan; Michotte, Alex; Abrams, Pascale; De Ridder, Dirk; Abs, Roger

2009-01-01

Silent pituitary adenomas are a subtype of adenomas characterized by positive immunoreactivity for one or more hormones classically secreted by normal pituitary cells but without clinical expression, although in some occasions enhanced or changed secretory activity can develop over time. Silent corticotroph adenomas are the classical example of this phenomenon. A series of about 500 pituitary adenomas seen over a period of 20 years were screened for modification in hormonal secretion. Biochemical and immunohistochemical data were reviewed. Two cases were retrieved, one silent somatotroph adenoma and one thyrotroph adenoma, both without specific clinical features or biochemical abnormalities, which presented 20 years after initial surgery with evidence of acromegaly and hyperthyroidism, respectively. While the acromegaly was controlled by a combination of somatostatin analogs and growth hormone (GH) receptor antagonist therapy, neurosurgery was necessary to manage the thyrotroph adenoma. Immunohistochemical examination demonstrated an increase in the number of thyroid stimulating hormone (TSH)-immunoreactive cells compared to the first tissue. Apparently, the mechanisms responsible for the secretory modifications are different, being a change in secretory capacity in the silent somatotroph adenoma and a quantitative change in the silent thyrotroph adenoma. These two cases, one somatotroph and one thyrotroph adenoma, are an illustration that clinically silent pituitary adenomas may in rare circumstances evolve over time and become active, as previously demonstrated in silent corticotroph adenomas.

Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia.

PubMed

Cortés-Vicente, Elena; Turon-Sans, Janina; Gelpi, Ellen; Clarimón, Jordi; Borrego-Écija, Sergi; Dols-Icardo, Oriol; Illán-Gala, Ignacio; Lleó, Alberto; Illa, Isabel; Blesa, Rafael; Al-Chalabi, Ammar; Rojas-García, Ricard

2018-06-08

To determine the motor phenotype and outcome in a clinically ascertained group of patients with motor neuron disease (MND) and frontotemporal dementia (FTD). This is an observational retrospective clinical study of patients fulfilling the clinical criteria for MND-FTD. A contemporary series of patients with amyotrophic lateral sclerosis (ALS) without dementia were included for comparison. Demographic, clinical, genetic, and neuropathological data were collected. A descriptive and comparative data analysis was performed. We identified 22 patients with MND-FTD. Selective distal upper limb muscle weakness and atrophy with non-significant lower limb weakness during follow-up was the most frequent motor pattern, present in 18 patients - in 15 of them associated with severe dysphagia. Aspiration pneumonia was the most common cause of death (12/19; 63%) despite gastrostomy. One-third of the patients did not develop upper motor neuron dysfunction. When compared to classic ALS without dementia (n = 162), these features were significantly different. A neuro-pathological examination was performed on 7 patients, and it confirmed the presence of MND with TDP43 protein aggregates in all patients. The MND-FTD patients frequently displayed a distinctive motor pattern characterized by weakness and atrophy in distal upper limb muscles and dysphagia, with no or little spreading to other regions. These features may help to define specific subgroups of patients, which is important with regard to clinical management, outcome, and research. © 2018 S. Karger AG, Basel.

When Autistic Behavior Suggests a Disease Other than Classic Autism.

PubMed

Simms, Mark D

2017-02-01

Most neurodevelopmental disorders are defined by their clinical symptoms and many disorders share common features. Recently there has been an increase in the number of children diagnosed with autism spectrum disorder, although concerns have been raised about the accuracy of the reported prevalence rates. This article reviews the essential features of autism spectrum disorder and describes other conditions that may include similar symptoms that may be misdiagnosed as autism spectrum disorder (primary communication disorders, anxiety disorders, attachment disorders, intellectual disability, vision and hearing impairment, and normal variations). An approach to differential diagnosis is discussed with particular attention to evaluation of young children. Copyright © 2016 Elsevier Inc. All rights reserved.

Imaging features of macrodystrophia lipomatosa: an unusual cause of a brawny arm

PubMed Central

Dhanasekaran, Jagadeesan; Reddy, Ajit Kumar; Sarawagi, Radha; Lakshmanan, Prakash Manikka

2014-01-01

Macrodystrophia lipomatosa (MDL), a rare non-hereditary congenital disorder of localised gigantism, is characterised by progressive proliferation of all mesenchymal elements, with a disproportionate increase in fibroadipose tissue. We report a case of a 19-year-old man who presented with a history of painless enlargement of the left upper limb since childhood, which was gradually increasing in size and predominantly involving the radial aspect of the upper limb with relative sparing of the ulnar aspect. The patient was imaged with X-ray and MRI. Imaging and clinical features were classical of MDL. The patient underwent stage 1 reduction plasty of the left forearm; preoperative and histopathological findings confirmed the preoperative diagnosis. PMID:25406225

Two Distinct Types of Hypercontractile Esophagus: Classic and Spastic Jackhammer

PubMed Central

Hong, Yun Soo; Min, Yang Won; Rhee, Poong-Lyul

2016-01-01

Hypercontractile esophagus (nicknamed jackhammer esophagus) is a recently defined disease within the esophageal motility disorders classification. Responses to treatments for jackhammer esophagus have been inconsistent in previous trials, possibly due to its heterogeneous manifestation. Thus, we reviewed 10 patients diagnosed with jackhammer esophagus and compared their clinical and manometric features at baseline. Additionally, manometric and symptomatic responses after treatment with known smooth muscle relaxants, including anticholinergic drugs (cimetropium bromide and scopolamine butylbromide) and a phosphodiesterase-5 inhibitor (sildenafil) were compared. We observed two distinct subgroups in the findings: one with hypercontractility and normal distal latencies (“classic jackhammer esophagus,” n=7) and the other with hypercontractility and short distal latencies (“spastic jackhammer esophagus,” n=3). The two types also differed in their responses to medications in that symptoms improved upon treatment with an anticholinergic agent in classic jackhammer esophagus patients, while spastic jackhammer esophagus was unresponsive to both the anticholinergic drugs and the phosphodiesterase-5 inhibitor. In conclusion, hypercontractile esophagus may be a heterogeneous disease with different underlying pathophysiologies. We introduced two novel terms, “classic jackhammer esophagus” and “spastic jackhammer esophagus,” to distinguish the two types. PMID:27458179

Quantum-enhanced feature selection with forward selection and backward elimination

NASA Astrophysics Data System (ADS)

He, Zhimin; Li, Lvzhou; Huang, Zhiming; Situ, Haozhen

2018-07-01

Feature selection is a well-known preprocessing technique in machine learning, which can remove irrelevant features to improve the generalization capability of a classifier and reduce training and inference time. However, feature selection is time-consuming, particularly for the applications those have thousands of features, such as image retrieval, text mining and microarray data analysis. It is crucial to accelerate the feature selection process. We propose a quantum version of wrapper-based feature selection, which converts a classical feature selection to its quantum counterpart. It is valuable for machine learning on quantum computer. In this paper, we focus on two popular kinds of feature selection methods, i.e., wrapper-based forward selection and backward elimination. The proposed feature selection algorithm can quadratically accelerate the classical one.

Generic emergence of classical features in quantum Darwinism.

PubMed

Brandão, Fernando G S L; Piani, Marco; Horodecki, Paweł

2015-08-12

Quantum Darwinism posits that only specific information about a quantum system that is redundantly proliferated to many parts of its environment becomes accessible and objective, leading to the emergence of classical reality. However, it is not clear under what conditions this mechanism holds true. Here we prove that the emergence of classical features along the lines of quantum Darwinism is a general feature of any quantum dynamics: observers who acquire information indirectly through the environment have effective access at most to classical information about one and the same measurement of the quantum system. Our analysis does not rely on a strict conceptual splitting between a system-of-interest and its environment, and allows one to interpret any system as part of the environment of any other system. Finally, our approach leads to a full operational characterization of quantum discord in terms of local redistribution of correlations.

Generic emergence of classical features in quantum Darwinism

NASA Astrophysics Data System (ADS)

Brandão, Fernando G. S. L.; Piani, Marco; Horodecki, Paweł

2015-08-01

Quantum Darwinism posits that only specific information about a quantum system that is redundantly proliferated to many parts of its environment becomes accessible and objective, leading to the emergence of classical reality. However, it is not clear under what conditions this mechanism holds true. Here we prove that the emergence of classical features along the lines of quantum Darwinism is a general feature of any quantum dynamics: observers who acquire information indirectly through the environment have effective access at most to classical information about one and the same measurement of the quantum system. Our analysis does not rely on a strict conceptual splitting between a system-of-interest and its environment, and allows one to interpret any system as part of the environment of any other system. Finally, our approach leads to a full operational characterization of quantum discord in terms of local redistribution of correlations.

Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene.

PubMed

Coelho, Joana Dias; Lestre, Sara; Kay, Teresa; Lopes, Maria João Paiva; Fiadeiro, Teresa; Apetato, Margarida

2011-01-01

Dyskeratosis congenital is reported in two siblings. They presented with the classic triad of mucocutaneous features: leukoplakia of the tongue, dystrophic nails, and a widespread reticulate pigmentation on the neck and upper chest. A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in both patients. Acitretin was started at a low-dose in both patients, resulting in clinical improvement and important, positive psychosocial effects. © 2011 Wiley Periodicals, Inc.

Lethal Progressive Thoracic Insufficiency in a Neonate Due to Jarcho Levin Syndrome

PubMed Central

Bhutia, Euden; Maria, Arti; Verma, Arushi; Sethi, Sidharth Kumar

2014-01-01

A rare case of Jarcho Levin syndrome (JLS) presenting as a lethal progressive respiratory insufficiency in early neonatal period is reported. The neonate had classical features of this syndrome including vertebral segmentation defects, typical costo-vertebral fusion defects and scoliosis resulting in small thoracic volume and limited chest expansion; all consistent with a clinical diagnosis of JLS with thoracic insufficiency. In addition, our case had a rare association of dextrocardia and acyanotic congenital heart disease. PMID:24741543

Occupational acroosteolysis in a guitar player.

PubMed

Baran, R; Tosti, A

1993-02-01

A case of occupational acroosteolysis in a 24-year-old classical guitar player is reported. Nail tenderness was the only manifestation of initial acroosteolysis, which was due to mechanical stress on the fingers. Radiographs showed initial resorption of the 2nd, 3rd and 4th finger of the left hand. The authors review the clinical and radiological features of acroosteolysis. The pathogenesis of acroosteolysis is discussed as well as the different diseases that may cause destructive changes of the distal phalangeal bones.

Bone imaging of the heel in Reiter's syndrome. [/sup 99m/Tc-pyrophosphate

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

Khalkhali, I.; Stadalnik, R.C.; Wiesner, K.B.

1979-01-01

Classic Reiter's syndrome, which affects young adult males, is characterized by arthritis, conjunctivitis, and nongonococcal urethritis. Other features of probably equal significance include circinate balanitis, shallow ulcerations of the buccal mucosa, and a dermatitis. Reiter's arthritis is usually asymmetrical and tends to involve lower extremity joints. Talalgia, or heel pain, is an often underrated characteristic feature of the arthritis. With an incidence of 50% talalgia can be localized to either the posterior aspect of the heel or to the plantar surface of the heel. Radiographic alterations in these regions are common in patients with recurrent or chronic disease, but aremore » infrequent or minimal in patients with acute Reiter's syndrome. Recent observation of a young male with Reiter's syndrome suggests that bone imaging may help substantiate this clinical feature before radiography reveals calcaneal spurs.« less

Analysis of 22q11.2 deletions by FISH in a series of velocardiofacial syndrome patients

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

Ravnan, J.B.; Golabi, M.; Lebo, R.V.

Deletions in chromosome 22 band q11.2 have been associated with velocardiofacial (VCF or Shprintzen) syndrome and the DiGeorge anomaly. A study of VCF patients evaluated at the UCSF Medical Center was undertaken to correlate disease phenotype with presence or absence of a deletion. Patients referred for this study had at least two of the following: dysmorphic facial features, frequent ear infections or hearing loss, palate abnormalities, thymic hypoplasia, hypocalcemia, congenital heart defect, hypotonia, and growth or language delay. Fluorescence in situ hybridization (FISH) using the DiGeorge critical region probe N25 was used to classify patients according to the presence ormore » absence of a deletion in 22q11.2, and the results were compared to clinical characteristics. We have completed studies on 58 patients with features of VCF. Twenty-one patients (36%) were found to have a deletion in 22q11.2 by FISH. A retrospective study of archived slides from 14 patients originally studied only by prometaphase GTG banding found six patients had a deletion detected by FISH; of these, only two had a microscopically visible chromosome deletion. Our study of 11 sets of parents of children with the deletion found two clinically affected mothers with the deletion, including one with three of three children clinically affected. A few patients who did not fit the classical VCF description had a 22q11.2 deletion detected by FISH. These included one patient with both cleft lip and palate, and another with developmental delay and typical facial features but no cardiac or palate abnormalities. Both patients with the DiGeorge anomaly as part of VCF had the deletion. On the other hand, a number of patients diagnosed clinically with classical VCF did not have a detectable deletion. This raises the question whether they represent a subset of patients with a defect of 22q11.2 not detected by the N25 probe, or whether they represent a phenocopy of VCF.« less

Liquid-based cytology improves preoperative diagnostic accuracy of the tall cell variant of papillary thyroid carcinoma.

PubMed

Lee, Sung Hak; Jung, Chan Kwon; Bae, Ja Seong; Jung, So Lyung; Choi, Yeong Jin; Kang, Chang Suk

2014-01-01

The tall cell variant (TCV) of papillary thyroid carcinoma (PTC) is the most common among the aggressive variants of the disease. We aimed to investigate the clinicopathologic characteristics of TCV, and evaluate the diagnostic efficacy of liquid-based cytology (LBC) in TCV detection compared with conventional smear in thyroid fine needle aspiration (FNA). A total of 266 consecutive patients (220 women and 46 men) with PTC were enrolled. We analyzed tumor characteristics according to histologic growth patterns as classic, classic PTC with tall cell features, and TCV. The cytomorphologic features of these subtypes were investigated according to the preparation methods of conventional smear and LBC. TCV and classic PTC with tall cell features comprised 4.9% and 6.0% of all tumors, respectively, and were significantly associated with older age at presentation, larger tumor size, high frequency of extrathyroid extension, and BRAF mutation in comparison with classic PTC. However, there was no statistically significant difference in clinicopathologic features between TCV and classic PTC with tall cell features. Tall cells were more easily detected by LBC than by conventional smear. The percentage of tall cells identified using LBC was well correlated with three histologic subtypes. Our results demonstrate that TCV is more common than previously recognized in Korea and any PTC containing tall cells may have identical biological behavior regardless of the precise proportions of tall cells. It is possible to make a preoperative diagnosis of TCV using LBC. Copyright © 2013 Wiley Periodicals, Inc.

Structure of a short-chain dehydrogenase/reductase (SDR) within a genomic island from a clinical strain of Acinetobacter baumannii

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

Shah, Bhumika S., E-mail: bhumika.shah@mq.edu.au; Tetu, Sasha G.; Harrop, Stephen J.

2014-09-25

The structure of a short-chain dehydrogenase encoded within genomic islands of A. baumannii strains has been solved to 2.4 Å resolution. This classical SDR incorporates a flexible helical subdomain. The NADP-binding site and catalytic side chains are identified. Over 15% of the genome of an Australian clinical isolate of Acinetobacter baumannii occurs within genomic islands. An uncharacterized protein encoded within one island feature common to this and other International Clone II strains has been studied by X-ray crystallography. The 2.4 Å resolution structure of SDR-WM99c reveals it to be a new member of the classical short-chain dehydrogenase/reductase (SDR) superfamily. Themore » enzyme contains a nucleotide-binding domain and, like many other SDRs, is tetrameric in form. The active site contains a catalytic tetrad (Asn117, Ser146, Tyr159 and Lys163) and water molecules occupying the presumed NADP cofactor-binding pocket. An adjacent cleft is capped by a relatively mobile helical subdomain, which is well positioned to control substrate access.« less

Pneumococcal pneumonia: clinical features, diagnosis and management in HIV-infected and HIV noninfected patients.

PubMed

Madeddu, Giordano; Fois, Alessandro Giuseppe; Pirina, Pietro; Mura, Maria Stella

2009-05-01

In this review, we focus on the clinical features, diagnosis and management of pneumococcal pneumonia in HIV-infected and noninfected patients, with particular attention to the most recent advances in this area. Classical clinical features are found in young adults, whereas atypical forms occur in immunocompromised patients including HIV-infected individuals. Bacteremic pneumococcal pneumonia is more frequently observed in HIV-infected and also in low-risk patients, according to the Pneumonia Severity Index (PSI). Pneumococcal pneumonia diagnostic process includes physical examination, radiologic findings and microbiologic diagnosis. However, etiologic diagnosis using traditional culture methods is difficult to obtain. In this setting, urinary antigen test, which recognizes Streptococcus pneumoniae cell wall C-polysaccharide, increases the probability of etiologic diagnosis. A correct management approach is crucial in reducing pneumococcal pneumonia mortality. The use of the PSI helps clinicians in deciding between inpatient and outpatient management in immunocompetent individuals, according to Infectious Diseases Society of America (IDSA)-American Thoracic Society (ATS) guidelines. Recent findings support PSI utility also in HIV-infected patients. Recently, efficacy of pneumococcal vaccine in reducing pneumococcal disease incidence has been evidenced in both HIV-infected and noninfected individuals. Rapid diagnosis and correct management together with implementation of preventive measures are crucial in order to reduce pneumococcal pneumonia related incidence and mortality in HIV-infected and noninfected patients.

TU-AB-207-03: Tomosynthesis: Clinical Applications

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

Maidment, A.

2015-06-15

Digital Tomosynthesis (DT) is becoming increasingly common in breast imaging and many other applications. DT is a form of computed tomography in which a limited set of projection images are acquired over a small angular range and reconstructed into a tomographic data set. The angular range and number of projections is determined both by the imaging task and equipment manufacturer. For example, in breast imaging between 9 and 25 projections are acquired over a range of 15° to 60°. It is equally valid to treat DT as the digital analog of classical tomography - for example, linear tomography. In fact,more » the name “tomosynthesis” is an acronym for “synthetic tomography”. DT shares many common features with classical tomography, including the radiographic appearance, dose, and image quality considerations. As such, both the science and practical physics of DT systems is a hybrid between CT and classical tomographic methods. This lecture will consist of three presentations that will provide a complete overview of DT, including a review of the fundamentals of DT, a discussion of testing methods for DT systems, and a description of the clinical applications of DT. While digital breast tomosynthesis will be emphasized, analogies will be drawn to body imaging to illustrate and compare tomosynthesis methods. Learning Objectives: To understand the fundamental principles behind tomosynthesis, including the determinants of image quality and dose. To learn how to test the performance of tomosynthesis imaging systems. To appreciate the uses of tomosynthesis in the clinic and the future applications of tomosynthesis.« less

Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region

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

Lindsay, E.A.; Shaffer, L.G.; Greenberg, F.

DiGeorge anomaly (DGA) and velo-cardio-facial syndrome (VCFS) are frequently associated with monosomy of chromosome region 22q11. Most patients have a submicroscopic deletion, recently estimated to be at least 1-2 Mb. It is not clear whether individuals who present with only some of the features of these conditions have the deletion, and if so, whether the size of the deletion varies from those with more classic phenotypes. We have used fluorescence in situ hybridization (FISH) to assess the deletion status of 85 individuals referred to us for molecular analysis, with a wide range of DGA-like or VCFS-like clinical features. The testmore » probe used was the cosmid sc11.1, which detects two loci about 2 Mb apart in 22q11.2. Twenty-four patients carried the deletion. Of the deleted patients, most had classic DGA or VCFS phenotypes, but 6 deleted patients had mild phenotypes, including 2 with minor facial anomalies and velopharyngeal incompetence as the only presenting signs. Despite the great phenotypic variability among the deleted patients, none had a deletion smaller than the 2-Mb region defined by sc11.1. Smaller deletions were not detected in patients with particularly suggestive phenotypes who were not deleted for sc11.1, even when tested with two other probes from the DGA/VCFS region. 24 refs., 2 figs., 2 tabs.« less

Imaging features of macrodystrophia lipomatosa: an unusual cause of a brawny arm.

PubMed

Dhanasekaran, Jagadeesan; Reddy, Ajit Kumar; Sarawagi, Radha; Lakshmanan, Prakash Manikka

2014-11-18

Macrodystrophia lipomatosa (MDL), a rare non-hereditary congenital disorder of localised gigantism, is characterised by progressive proliferation of all mesenchymal elements, with a disproportionate increase in fibroadipose tissue. We report a case of a 19-year-old man who presented with a history of painless enlargement of the left upper limb since childhood, which was gradually increasing in size and predominantly involving the radial aspect of the upper limb with relative sparing of the ulnar aspect. The patient was imaged with X-ray and MRI. Imaging and clinical features were classical of MDL. The patient underwent stage 1 reduction plasty of the left forearm; preoperative and histopathological findings confirmed the preoperative diagnosis. 2014 BMJ Publishing Group Ltd.

Diagnosis and management of congenital dyserythropoietic anemias.

PubMed

Gambale, Antonella; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta

2016-03-01

Congenital dyserythropoietic anemias (CDAs) are inherited disorders hallmarked by chronic hyporegenerative anemia, relative reticulocytopenia, hemolytic component and iron overload. They represent a subtype of the inherited bone marrow failure syndromes, characterized by impaired differentiation and proliferation of the erythroid lineage. Three classical types were defined by marrow morphology, even if the most recent classification recognized six different genetic types. The pathomechanisms of CDAs are different, but all seem to involve the regulation of DNA replication and cell division. CDAs are often misdiagnosed, since either morphological abnormalities or clinical features can be commonly identified in other clinically-related anemias. However, differential diagnosis is essential for guiding both follow up and management of the patients.

Follicular variant of papillary thyroid carcinoma: genome-wide appraisal of a controversial entity.

PubMed

Wreesmann, Volkert B; Ghossein, Ronald A; Hezel, Michael; Banerjee, Debenranrath; Shaha, Ashok R; Tuttle, R Michael; Shah, Jatin P; Rao, Pulivarthi H; Singh, Bhuvanesh

2004-08-01

The majority of thyroid tumors are classified as papillary (papillary thyroid carcinomas; PTCs) or follicular neoplasms (follicular thyroid adenomas and carcinomas; FTA/FTC) based on nuclear features and the cellular growth pattern. However, classification of the follicular variant of papillary thyroid carcinoma (FVPTC) remains an issue of debate. These tumors contain a predominantly follicular growth pattern but display nuclear features and overall clinical behavior consistent with PTC. In this study, we used comparative genomic hybridization (CGH) to compare the global chromosomal aberrations in FVPTC to the PTC of classical variant (classical PTC) and FTA/FTC. In addition, we assessed the presence of peroxisome proliferator-activated receptor-gamma (PPARG) alteration, a genetic event specific to FTA/FTC, using Southern blot and immunohistochemistry analyses. In sharp contrast to the findings in classical PTC (4% of cases), CGH analysis demonstrated that both FVPTC (59% of cases) and FTA/FTC (36% of cases) were commonly characterized by aneuploidy (P = 0.0002). Moreover, the pattern of chromosomal aberrations (gains at chromosome arms 2q, 4q, 5q, 6q, 8q, and 13q and deletions at 1p, 9q, 16q, 17q, 19q, and 22q) in the follicular variant of PTC closely resembled that of FTA/FTC. Aberrations in PPARG were uniquely detected in FVPTC and FTA/FTC. Our findings suggest a stronger relationship between the FVPTC and FTA/FTC than previously appreciated and support further consideration of the current classification of thyroid neoplasms. Copyright 2004 Wiley-Liss, Inc.

Primary intraosseous squamous cell carcinoma arising in an odontogenic keratocyst previously treated with marsupialization: case report and immunohistochemical study.

PubMed

Martínez-Martínez, Marisol; Mosqueda-Taylor, Adalberto; Delgado-Azañero, Wilson; Rumayor-Piña, Alicia; de Almeida, Oslei Paes

2016-04-01

A rare case of primary intraosseous squamous cell carcinoma arising in an odontogenic keratocyst (OKC) is presented here, with the clinical and histologic features of the first biopsy showing characteristics of OKC and the second biopsy disclosing a squamous cell carcinoma. Immunoprofile of this case was compared with five cases of classical OKC by using cytokeratins CK5, CK14, and CK19, CD138, p63, Ki-67, p53, and bcl-2. Classic OKCs showed expected positivity, mainly in the basal and/or suprabasal layers with most antibodies, except for p53, which was negative, whereas the present case showed irregular positivity in all layers, indicating that this can be useful for differential diagnosis and suggesting a possible role in malignant transformation into primary intraosseous squamous cell carcinoma. In conclusion, immunohistochemical differences between the first biopsy of the present case and classic OKC suggest that immunohistochemistry can be helpful in cases with areas of subtle initial malignant transformation. Copyright © 2016 Elsevier Inc. All rights reserved.

Multimodal imaging findings in 'hyper-early' stage MEWDS.

PubMed

Cahuzac, Armelle; Wolff, Benjamin; Mathis, Thibaud; Errera, Marie-Hélène; Sahel, José-Alain; Mauget-Faÿsse, Martine

2017-10-01

To describe a new stage of multiple evanescent white dot syndrome (MEWDS), occurring at a very early phase of the disease. Retrospective analysis of clinical, angiographic and tomographic findings in four patients with 'hyper-early' stage MEWDS. In four patients seen within 1 week of the onset of symptoms, fundus analysis revealed macular granity and the classic yellow-white dots, some having no corresponding hyperautofluorescent pattern. Spectral-domain optical coherence tomography (SD-OCT) showed central foveal disruption of the ellipsoid zone (EZ) and interdigitation layer with a hyper-reflective dome-shaped lesion. In two patients, fluorescein angiography (FA) revealed an intermediate hypofluorescent perimacular halo, whereas late indocyanine green angiography (ICGA) showed a hyperfluorescent halo as well as the classic MEWDS features. After a few days, the EZ disruption appeared complete on OCT and fundus autofluorescence (FAF) in all patients. Visual acuity, OCT and FAF findings had fully recovered within 3 months. We have shown a new feature of MEWDS on FAF, OCT, FA and ICGA, corresponding to a very early stage of the disease. 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/.

Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction.

PubMed

Xia, Shudong; Wang, Hongxia; Zhang, Xiaoliang; Zhu, Jianhua; Tang, Xiaoli

2008-01-01

Isolated left ventricular noncompaction (ILVNC) is a rare congenital cardiomyopathy characterized by numerous excessive trabeculations and deep intertrabecular recesses. To date, the clinical features and genetic causes of ILVNC remain unclear. Here, we report the clinical presentation and genetic analysis of a five generation Chinese family with ILVNC. For this study, 21 living family members were recruited. Each individual underwent a detailed clinical examination for ILVNC. Peripheral blood samples were collected for direct gene sequencing to determine any mutations in the known disease-causing genes of ILVNC, which include the genes TAZ, DTNA, LDB3, LMNA and FKBP12. Classic echocardiographic presentation of ILVNC was identified in the proband who had his first onset of heart failure at age 52. His 28-year-old son and 26-year-old daughter showed similar heart anomalies as their father. Although they had no symptoms to date, depressed ventricular systolic function was noted in both of them. Pedigree analysis suggested an autosomal domain mode of inheritance. DNA sequencing found no mutation in the known disease-causing genes of ILVNC. Interestingly, two other members of the family, the proband's wife (also his first cousin) and her sister had classic echocardiographic presentation of hypertrophic cardiomyopathy (HCM). A single Chinese family with ILVNC associated with HCM is reported; no mutations in TAZ, DTNA, LDB3, LMNA and FKBP12 was found.

Allergic contact dermatitis from color film developers: clinical and histologic features.

PubMed

Brancaccio, R R; Cockerell, C J; Belsito, D; Ostreicher, R

1993-05-01

We evaluated two patients with allergic contact dermatitis that resulted from exposure to color film developers. A lichenoid eruption developed in one patient, whereas an eruption more characteristic of an acute spongiotic dermatitis developed in the second patient. Histologic findings in the first case were those of a "lichenoid dermatitis" but with features distinct from classic lichen planus. The biopsy specimens from the second patient showed a subacute spongiotic process with a bandlike infiltrate suggestive of an evolving lichenoid process. Contact allergy to color developers may result in eruptions similar to lichen planus. This process appears to evolve from an acute spongiotic dermatitis in its early phase to a lichenoid dermatitis in fully developed and more chronic forms. Although the histologic features are those of a "lichenoid" dermatitis, some features, such as the presence of spongiosis, eosinophils, and a less intense inflammatory infiltrate, may enable distinction between lichenoid allergic contact dermatitis and true lichen planus. In addition, clinicopathologic correlation with patch test results should permit accurate diagnosis in most cases.

The morphologic and immunohistochemical spectrum of papillary renal cell carcinoma: study including 132 cases with pure type 1 and type 2 morphology as well as tumors with overlapping features.

PubMed

Chevarie-Davis, Myriam; Riazalhosseini, Yasser; Arseneault, Madeleine; Aprikian, Armen; Kassouf, Wassim; Tanguay, Simon; Latour, Mathieu; Brimo, Fadi

2014-07-01

Papillary renal cell carcinomas (pRCC) are classically divided into type 1 and 2 tumors. However, many cases do not fulfill all the criteria for either type. We describe the clinical, morphologic, and immunohistochemical (IHC) features of 132 pRCCs to better characterize the frequency and nature of tumors with overlapping features. Cases were reviewed and classified; IHC evaluation of CK7, EMA, TopoIIα, napsin A, and AMACR was performed on 95 cases. The frequencies of type 1, type 2, and "overlapping" pRCC were 25%, 28%, and 47%, respectively. The 2 categories of "overlapping" tumors were: (1) cases with bland cuboidal cells but no basophilic cytoplasm (type A); and (2) cases with predominantly type 1 histology admixed with areas showing prominent nucleoli (type B). The pathologic stage of "overlapping" cases showed concordance with type 1 tumors. Using the 2 discriminatory markers (CK7, EMA), "type A" cases were similar to type 1. Although the high-nuclear grade areas of "type B" tumors showed some staining differences from their low-nuclear grade counterpart, their IHC profile was closer to type 1. Single nucleotide polymorphism array results, although preliminary and restricted to only 9 cases (3 with overlapping features), also seemed to confirm those findings. In conclusion, we demonstrate that variations in cytoplasmic quality and/or presence of high-grade nuclei in tumors otherwise displaying features of type 1 pRCCs are similar in stage and IHC profile those with classic type 1 histology, suggesting that their spectrum might be wider than originally described.

Clinical classification of 103 Japanese patients with Guillain-Barré syndrome.

PubMed

Wakerley, Benjamin R; Kokubun, N; Funakoshi, K; Nagashima, T; Hirata, K; Yuki, N

2016-10-15

Guillain-Barré syndrome (GBS) is the commonest cause of flaccid paralysis worldwide. Miller Fisher syndrome (MFS) is a variant of GBS characterized by ophthalmoplegia and ataxia. Together GBS and MFS form a continuum of discrete and overlapping subtypes, the frequency of which remains unknown. We retrospectively analysed the clinical features (antecedent symptoms, pattern of neurological weakness or ataxia, presence of hypersomnolence) of 103 patients at a single hospital in Japan. Patients were then classified according to new diagnostic criteria (Wakerley et al., 2014). Laboratory data (neurophysiology and anti-ganglioside antibody profiles) were also analysed. According to the new diagnostic criteria, the 103 patients could be classified as follows: classic GBS 73 (71%), pharyngeal-cervical-brachial weakness 2 (2%), acute pharyngeal weakness 0 (0%), paraparetic GBS 1 (1%), bifacial weakness with paraesthesias 1 (1%), polyneuritis cranialis 0 (0%), classic MFS 18 (17%), acute ophthalmoparesis 1 (1%), acute ptosis 0 (0%), acute mydriasis 0 (0%), acute ataxic neuropathy 1 (1%), Bickerstaff brainstem encephalitis 3 (3%), acute ataxic hypersomnolence 0 (0%), GBS and MFS overlap 1 (1%), GBS and Bickerstaff brainstem encephalitis overlap 1 (1%), MFS and pharyngeal-cervical-brachial weakness overlap 1 (1%). Application of the new clinical diagnostic criteria allowed accurate retrospective diagnosis and classification of GBS and MFS subtypes. Copyright © 2016. Published by Elsevier B.V.

Telangiectatic oncocytoma: a previously undescribed variant of renal oncocytoma.

PubMed

Xiao, Guang-Qian; Ko, Huai-Bin Mabel; Unger, Pamela

2013-07-01

To identify, describe, and investigate the clinical, radiologic, and pathologic features of 8 cases of telangiectatic oncocytoma. Fifty-three consecutive renal oncocytomas were reviewed for the telangiectatic pathologic features that were subsequently correlated with the demographic, clinical, and radiographic findings. Telangiectatic oncocytoma accounted for 15% of the 53 renal oncocytomas collected in the past 7 years in our institution. On radiology, almost all presented as an enhancing mass and were suspicious for or consistent with a renal malignant tumor. Grossly, the tumors ranged from 2.4 to 6.0 cm (mean, 3.5 cm) and macroscopically were hemorrhagic spongy or multicystic masses without a central stellate scar. Microscopically, they were characterized by variably sized blood-distended spaces (<0.1-mm to 2- to 3-mm blood lakes) lined by typical oncocytoma cells and without evidence of degenerative changes. With its unique radiologic and pathologic presentations in comparison with classic renal oncocytoma, it is important to recognize this new variant of renal oncocytoma.

Computerized intrapartum electronic fetal monitoring: analysis of the decision to deliver for fetal distress.

PubMed

Georgieva, Antoniya; Payne, Stephen J; Moulden, Mary; Redman, Christopher W G

2011-01-01

We applied computerized methods to assess the Electronic Fetal Monitoring (EFM) in labor. We analyzed retrospectively the last hour of EFM for 1,370 babies, delivered by emergency Cesarean sections before the onset of pushing (data collected at the John Radcliffe Hospital, Oxford, UK). There were two cohorts according to the reason for intervention: (a) fetal distress, n(1) = 524 and (b) failure to progress and/or malpresentation, n(2) = 846. The cohorts were compared in terms of classical EFM features (baseline, decelerations, variability and accelerations), computed by a dedicated Oxford system for automated analysis--OxSys. In addition, OxSys was employed to simulate current clinical guidelines for the classification of fetal monitoring, i.e. providing in real time a three-tier grading system of the EFM (normal, indeterminate, or abnormal). The computerized features and the simulated guidelines corresponded well to the clinical management and to the actual labor outcome (measured by umbilical arterial pH).

Anxiety or agitation in mood disorder with mixed features: A review with a focus on validity as a dimensional criterion.

PubMed

Shim, In Hee; Bae, Dong Sik; Bahk, Won-Myong

2016-08-01

The diagnostic validity of mixed features, excluding anxiety or psychomotor agitation in mood disorders, has not yet been fully examined. PubMed and relevant English-language literature (regardless of year) were searched. Keywords were mixed or mixed state or mixed features or mixed episode and anxious or anxiety or agitation and bipolar disorder or depressive disorder or mood disorder or affective disorder. Most studies on anxiety or psychomotor agitation have included a significant correlation relevant to the "with mixed features" specifier, although it is common in both poles of mood episodes regardless of the predominant polarity. There is some confusion between the characteristic of classical mixed states and the definition of the mixed features specifier with the newly added anxious distress specifier in DSM-5, specifically, whether to include anxiety and agitation as significant characteristics. This change is of concern because a large proportion of patients with mixed features are now unspecified, and this may influence treatment planning and prognosis. The findings of our review suggest that anxiety and psychomotor agitation can be core symptoms in mood episodes with mixed features and important clinical clues for prediction of treatment effects and disease course.

Is undifferentiated spondyloarthritis a discrete entity? A debate.

PubMed

Deodhar, Atul; Miossec, Pierre; Baraliakos, Xenofon

2018-01-01

The concept of undifferentiated spondyloarthritis has been introduced recently to describe a clinical setting where the classical features of spondyloarthritis (SpA) are not fully present. Whether this is a discrete entity was the basis of a debate during the 4th International Congress on Controversies in Rheumatology & Autoimmunity held in Bologna, Italy 9-11 March 2017. The pro and con aspects of the debate are presented. The implications of the debate are important ranging from diagnostic aspects to consequences for the society and the payers. Copyright © 2017 Elsevier B.V. All rights reserved.

Osteosclerotic myeloma with polyneuropathy and hypocalcemia.

PubMed

Ludescher, C; Grünewald, K; Fend, F; Dietze, O; Thaler, J; Schmid, K W

1989-04-01

A case is presented of a 46-year-old man with multifocal osteosclerotic bone lesions, peripheral polyneuropathy and hypocalcemia. Histologic examination of a bone marrow biopsy disclosed a multiple myeloma. Immunoelectrophoresis revealed a small M-component identified as IgG-lambda. Osteosclerotic myeloma lacking any osteolytic lesions seems to be very rare and shows several different features as compared with classical myeloma. A review of the current literature suggests that multiple myeloma is not a uniform disease but rather a group of clinical syndromes characterized by the special properties of their proliferating plasma cell clones.

Infiltrating Ductal Carcinoma Co-Existing with Intraductal Papillary Carcinoma of Male Breast: A Rare Case Report.

PubMed

Kumar, Mayank; Pottipati, Bhaswanth; Arakeri, Surekha U; Javalgi, Anita P

2017-06-01

Male breast carcinomas are rare tumours, accounting for less than 1% of all malignancies in men. Intracystic Papillary Carcinoma (IPC) in males is a very rare entity, representing 5-7.5% of all male breast carcinomas. It lacks the classical clinical, radiological and cytological features of malignancy and usually presents as a benign-appearing lump. We report a case of Infiltrating Ductal Carcinoma (IDC) co-existing with intracystic papillary carcinoma in a 53-year-old male who presented with lump in the right breast.

Infiltrating Ductal Carcinoma Co-Existing with Intraductal Papillary Carcinoma of Male Breast: A Rare Case Report

PubMed Central

Pottipati, Bhaswanth; Arakeri, Surekha U.; Javalgi, Anita P.

2017-01-01

Male breast carcinomas are rare tumours, accounting for less than 1% of all malignancies in men. Intracystic Papillary Carcinoma (IPC) in males is a very rare entity, representing 5-7.5% of all male breast carcinomas. It lacks the classical clinical, radiological and cytological features of malignancy and usually presents as a benign-appearing lump. We report a case of Infiltrating Ductal Carcinoma (IDC) co-existing with intracystic papillary carcinoma in a 53-year-old male who presented with lump in the right breast. PMID:28764176

A Comprehensive Overview on Myositis-Specific Antibodies: New and Old Biomarkers in Idiopathic Inflammatory Myopathy

PubMed Central

Satoh, Minoru; Tanaka, Shin; Ceribelli, Angela; Calise, S. John; Chan, Edward K. L.

2018-01-01

Autoantibodies specific for idiopathic inflammatory myopathy (myositis-specific autoantibodies (MSAs)) are clinically useful biomarkers to help the diagnosis of polymyositis/dermatomyositis (PM/DM). Many of these are also associated with a unique clinical subset of PM/DM, making them useful in predicting and monitoring certain clinical manifestations. Classic MSAs known for over 30 years include antibodies to Jo-1 (histidyl transfer RNA (tRNA) synthetase) and other aminoacyl tRNA synthetases (ARS), anti-Mi-2, and anti-signal recognition particle (SRP). Anti-Jo-1 is the first autoantibodies to ARS detected in 15–25 % of patients. In addition to anti-Jo-1, antibodies to seven other aminoacyl tRNA synthetases (ARS) have been reported with prevalence, usually 1–5 % or lower. Patients with any antiARS antibodies are associated with anti-synthetase syndrome characterized by myositis, interstitial lung disease (ILD), arthritis, Raynaud’s phenomenon, and others. Several recent studies suggested heterogeneity in clinical features among different anti-ARS antibody-positive patients and anti-ARS may also be found in idiopathic ILD without myositis. Anti-Mi-2 is a classic marker for DM and associated with good response to steroid treatment and good prognosis. Anti-SRP is specific for PM and associated with treatment-resistant myopathy histologically characterized as necrotizing myopathy. In addition to classic MSAs, several new autoantibodies with strong clinical significance have been described in DM. Antibodies to transcription intermediary factor 1γ/α (TIF1γ/α, p155/140) are frequently found in DM associated with malignancy while anti-melanoma differentiation-associated gene 5 (MDA5; CADM140) are associated with clinically amyopathic DM (CADM) complicated by rapidly progressive ILD. Also, anti-MJ/nuclear matrix protein 2 (NXP-2) and anti-small ubiquitin-like modifier-1 (SUMO-1) activating enzyme (SAE) are recognized as new DM-specific autoantibodies. Addition of these new antibodies to clinical practice in the future will help in making earlier and more accurate diagnoses and better management for patients. PMID:26424665

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

PubMed Central

Ferre, Elise M.N.; Rose, Stacey R.; Rosenzweig, Sergio D.; Burbelo, Peter D.; Romito, Kimberly R.; Niemela, Julie E.; Rosen, Lindsey B.; Break, Timothy J.; Gu, Wenjuan; Hunsberger, Sally; Browne, Sarah K.; Hsu, Amy P.; Rampertaap, Shakuntala; Swamydas, Muthulekha; Collar, Amanda L.; Kong, Heidi H.; Chascsa, David; Simcox, Thomas; Pham, Angela; Bondici, Anamaria; Natarajan, Mukil; Monsale, Joseph; Kleiner, David E.; Quezado, Martha; Alevizos, Ilias; Moutsopoulos, Niki M.; Yockey, Lynne; Frein, Cathleen; Soldatos, Ariane; Calvo, Katherine R.; Adjemian, Jennifer; Similuk, Morgan N.; Lang, David M.; Stone, Kelly D.; Uzel, Gulbu; Bishop, Rachel J.; Holland, Steven M.; Olivier, Kenneth N.; Fleisher, Thomas A.; Heller, Theo; Winer, Karen K.

2016-01-01

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE mutations. It classically presents with chronic mucocutaneous candidiasis and autoimmunity that primarily targets endocrine tissues; hypoparathyroidism and adrenal insufficiency are most common. Developing any two of these classic triad manifestations establishes the diagnosis. Although widely recognized in Europe, where nonendocrine autoimmune manifestations are uncommon, APECED is less defined in patients from the Western Hemisphere. We enrolled 35 consecutive American APECED patients (33 from the US) in a prospective observational natural history study and systematically examined their genetic, clinical, autoantibody, and immunological characteristics. Most patients were compound heterozygous; the most common AIRE mutation was c.967_979del13. All but one patient had anti–IFN-ω autoantibodies, including 4 of 5 patients without biallelic AIRE mutations. Urticarial eruption, hepatitis, gastritis, intestinal dysfunction, pneumonitis, and Sjögren’s-like syndrome, uncommon entities in European APECED cohorts, affected 40%–80% of American cases. Development of a classic diagnostic dyad was delayed at mean 7.38 years. Eighty percent of patients developed a median of 3 non-triad manifestations before a diagnostic dyad. Only 20% of patients had their first two manifestations among the classic triad. Urticarial eruption, intestinal dysfunction, and enamel hypoplasia were prominent among early manifestations. Patients exhibited expanded peripheral CD4+ T cells and CD21loCD38lo B lymphocytes. In summary, American APECED patients develop a diverse syndrome, with dramatic enrichment in organ-specific nonendocrine manifestations starting early in life, compared with European patients. Incorporation of these new manifestations into American diagnostic criteria would accelerate diagnosis by approximately 4 years and potentially prevent life-threatening endocrine complications. PMID:27588307

Transvaginal ultrasound appearances of the ovary in normal women and hirsute women with oligomenorrhoea.

PubMed

Fox, R

1999-02-01

The transvaginal ultrasound appearances of the ovary were determined in women with clinical and endocrine features of polycystic ovarian disease (PCOD) and apparently normal women. At scan the number of small follicles were counted and ovarian volume was calculated. The maximum width of the ovarian cortex was also measured. Blood was sent for measurement of LH, FSH and testosterone. The women with oligomenorrhoea were scanned at random and the normal women were seen within the first 5 days of the start of menstruation. There were significant differences between median values for the 2 groups in terms of number of small follicles, ovarian volume and stromal width; the ovaries of the hirsute women had more follicles, were of larger volume, and had greater stromal width. The 2 ranges for number of follicles did overlap, however. Four hirsute oligomenorrhoeic women had a normal number of follicles; all 4 had the several clinical and endocrine features indicative of PCOD. These data suggest that the classical ultrasound features of PCOD are not consistently present and that the absence of increased follicularity at scan should not necessarily deter clinicians from making the functional diagnosis of PCOD.

Failure analysis of ceramic clinical cases using qualitative fractography.

PubMed

Scherrer, Susanne S; Quinn, Janet B; Quinn, George D; Kelly, J Robert

2006-01-01

To educate dental academic staff and clinicians on the application of descriptive (qualitative) fractography for analyses of clinical and laboratory failures of brittle materials such as glass and ceramic. The fracture surface topography of failed glass, glass fiber-reinforced composite, and ceramic restorations (Procera, Cerestore, In-Ceram, porcelain-fused-to-metal) was examined utilizing a scanning electron microscope. Replicas and original failed parts were scrutinized for classic fractographic features such as hackle, wake hackle, twist hackle, arrest lines, and mirrors. Failed surfaces of the veneering porcelain of ceramic and porcelain-fused-to-metal crowns exhibited hackle, wake hackle, twist hackle, arrest lines, and compression curl, which were produced by the interaction of the advancing crack with the microstructure of the material. Fracture surfaces of glass and glass fiber-reinforced composite showed additional features, such as velocity hackle and mirrors. The observed features were good indicators of the local direction of crack propagation and were used to trace the crack back to an initial starting area (the origin). Examples of failure analysis in this study are intended to guide the researcher in using qualitative (descriptive) fractography as a tool for understanding the failure process in brittle restorative materials and also for assessing possible design inadequacies.

Scattering features for lung cancer detection in fibered confocal fluorescence microscopy images.

PubMed

Rakotomamonjy, Alain; Petitjean, Caroline; Salaün, Mathieu; Thiberville, Luc

2014-06-01

To assess the feasibility of lung cancer diagnosis using fibered confocal fluorescence microscopy (FCFM) imaging technique and scattering features for pattern recognition. FCFM imaging technique is a new medical imaging technique for which interest has yet to be established for diagnosis. This paper addresses the problem of lung cancer detection using FCFM images and, as a first contribution, assesses the feasibility of computer-aided diagnosis through these images. Towards this aim, we have built a pattern recognition scheme which involves a feature extraction stage and a classification stage. The second contribution relies on the features used for discrimination. Indeed, we have employed the so-called scattering transform for extracting discriminative features, which are robust to small deformations in the images. We have also compared and combined these features with classical yet powerful features like local binary patterns (LBP) and their variants denoted as local quinary patterns (LQP). We show that scattering features yielded to better recognition performances than classical features like LBP and their LQP variants for the FCFM image classification problems. Another finding is that LBP-based and scattering-based features provide complementary discriminative information and, in some situations, we empirically establish that performance can be improved when jointly using LBP, LQP and scattering features. In this work we analyze the joint capability of FCFM images and scattering features for lung cancer diagnosis. The proposed method achieves a good recognition rate for such a diagnosis problem. It also performs well when used in conjunction with other features for other classical medical imaging classification problems. Copyright © 2014 Elsevier B.V. All rights reserved.

Survival probability of a truncated radial oscillator subject to periodic kicks

NASA Astrophysics Data System (ADS)

Tanabe, Seiichi; Watanabe, Shinichi; Saif, Farhan; Matsuzawa, Michio

2002-03-01

Classical and quantum survival probabilities are compared for a truncated radial oscillator undergoing impulsive interactions with periodic laser pulses represented here as kicks. The system is truncated in the sense that the harmonic potential is made valid only within a finite range; the rest of the space is treated as a perfect absorber. Exploring extended values of the parameters of this model [Phys. Rev. A 63, 052721 (2001)], we supplement discussions on classical and quantum features near resonances. The classical system proves to be quasi-integrable and preserves phase-space area despite the momentum transfered by the kicks, exhibiting simple yet rich phase-space features. A geometrical argument reveals quantum-classical correspondence in the locations of minima in the paired survival probabilities while the ``ionization'' rates differ due to quantum tunneling.

Evaluating conflation methods using uncertainty modeling

NASA Astrophysics Data System (ADS)

Doucette, Peter; Dolloff, John; Canavosio-Zuzelski, Roberto; Lenihan, Michael; Motsko, Dennis

2013-05-01

The classic problem of computer-assisted conflation involves the matching of individual features (e.g., point, polyline, or polygon vectors) as stored in a geographic information system (GIS), between two different sets (layers) of features. The classical goal of conflation is the transfer of feature metadata (attributes) from one layer to another. The age of free public and open source geospatial feature data has significantly increased the opportunity to conflate such data to create enhanced products. There are currently several spatial conflation tools in the marketplace with varying degrees of automation. An ability to evaluate conflation tool performance quantitatively is of operational value, although manual truthing of matched features is laborious and costly. In this paper, we present a novel methodology that uses spatial uncertainty modeling to simulate realistic feature layers to streamline evaluation of feature matching performance for conflation methods. Performance results are compiled for DCGIS street centerline features.

Legionella pneumonia cases over a five-year period: a descriptive, retrospective study of outcomes in a UK district hospital.

PubMed

Wingfield, Tom; Rowell, Sam; Peel, Alex; Puli, Deeksha; Guleri, Achyut; Sharma, Rashmi

2013-04-01

As the recent outbreaks in Edinburgh and Camarthen, UK, have shown, Legionella pneumonia (LP) remains a significant public health problem, which is not only confined to those who have travelled abroad. In both outbreaks and sporadic cases, diagnosis can go unrecognised. We reviewed the demographics, comorbidities, diagnosis, treatment and clinical outcome of LP cases over five years in a district general hospital in northwest England. Over half of LP cases were UK acquired and 'classic' clinical features were common. Clinical criteria for diagnosing LP were confirmed, but few sputum samples were sent to reference laboratories, limiting further essential epidemiological mapping of UK cases. Following current UK community-acquired pneumonia guidance would have missed nearly one quarter of LP cases in our series, potentially leading to further morbidity and mortality.

Necrotizing herpetic retinopathies. A spectrum of herpes virus-induced diseases determined by the immune state of the host.

PubMed

Guex-Crosier, Y; Rochat, C; Herbort, C P

1997-12-01

Necrotizing herpetic retinopathies (NHR), a new spectrum of diseases induced by viruses of the herpes family (herpes simplex virus, varicella-zoster virus and cytomegalovirus), includes acute retinal necrosis (ARN) occurring in apparently immunocompetent patients and progressive outer retinal necrosis (PORN) described in severely immuno-compromised patients. Signs of impaired cellular immunity were seen in 16% of ARN patients in a review of 216 reported cases, indicating that immune dysfunction is not only at the origin of PORN but might also be at the origin of ARN. The aim of this study was to correlate clinical findings in NHR patients with their immunologic parameters. Charts from patients with the diagnosis of ARN or PORN seen from 1990 to 1995 were reviewed. Clinical characteristics and disease patterns were correlated with immunological parameters taking into account CD4 lymphocyte rate in AIDS patients and blood-lymphocyte subpopulation determination by flow cytometry, cutaneous delayed type hypersensitivity testing and lymphocytic proliferation rate to seven antigens in HIV-negative patients. During the period considered, 11 patients and 7 patients fulfilled the criteria of ARN and PORN respectively. Immune dysfunctions were identified in most patients. Mild type of ARN and classical ARN were associated with discrete immune dysfunctions, ARN with features of PORN was seen in more immunodepressed patients and classical PORN was always seen in severely immunodepressed HIV patients. Our findings suggest that NHR is a continuous spectrum of diseases induced by herpes viruses, whose clinical expression depends on the immune state of the host going from mild or classical ARN at one end in patients with non-detectable or slight immune dysfunction to PORN in severely immunodepressed patients at the other end and with intermediary forms between these extremes.

Infantile bilateral glaucoma in a child with ectodermal dysplasia.

PubMed

Callea, Michele; Vinciguerra, Agatino; Willoughby, Colin E; Deroma, Laura; Clarich, Gabriella

2013-01-01

Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.

Annular Lichenoid Dermatitis of Youth: A Report of 2 Cases and a Review of the Literature.

PubMed

Vázquez-Osorio, I; González-Sabín, M; Gonzalvo-Rodríguez, P; Rodríguez-Díaz, E

2016-01-01

Annular lichenoid dermatitis of youth is a lichenoid dermatosis of unknown etiology. It mostly affects children and adolescents and has well-defined clinical and histological characteristics that permit a diagnosis. We present 2 new cases of annular lichenoid dermatitis of youth with classical clinical features in 2 girls, aged 2 and 4 years. The histologic findings, however, differed from those reported in the literature in that the lichenoid inflammatory infiltrate was located primarily at the top of the dermal papillae and not at the tips of the rete ridges. In both cases, the lesions regressed spontaneously without treatment. Copyright © 2016 AEDV. Published by Elsevier España, S.L.U. All rights reserved.

Shearlet Features for Registration of Remotely Sensed Multitemporal Images

NASA Technical Reports Server (NTRS)

Murphy, James M.; Le Moigne, Jacqueline

2015-01-01

We investigate the role of anisotropic feature extraction methods for automatic image registration of remotely sensed multitemporal images. Building on the classical use of wavelets in image registration, we develop an algorithm based on shearlets, a mathematical generalization of wavelets that offers increased directional sensitivity. Initial experimental results on LANDSAT images are presented, which indicate superior performance of the shearlet algorithm when compared to classical wavelet algorithms.

Clinical features of symptomatic patellofemoral joint osteoarthritis

PubMed Central

2012-01-01

Introduction Patellofemoral joint osteoarthritis (OA) is common and leads to pain and disability. However, current classification criteria do not distinguish between patellofemoral and tibiofemoral joint OA. The objective of this study was to provide empirical evidence of the clinical features of patellofemoral joint OA (PFJOA) and to explore the potential for making a confident clinical diagnosis in the community setting. Methods This was a population-based cross-sectional study of 745 adults aged ≥50 years with knee pain. Information on risk factors and clinical signs and symptoms was gathered by a self-complete questionnaire, and standardised clinical interview and examination. Three radiographic views of the knee were obtained (weight-bearing semi-flexed posteroanterior, supine skyline and lateral) and individuals were classified into four subsets (no radiographic OA, isolated PFJOA, isolated tibiofemoral joint OA, combined patellofemoral/tibiofemoral joint OA) according to two different cut-offs: 'any OA' and 'moderate to severe OA'. A series of binary logistic and multinomial regression functions were performed to compare the clinical features of each subset and their ability in combination to discriminate PFJOA from other subsets. Results Distinctive clinical features of moderate to severe isolated PFJOA included a history of dramatic swelling, valgus deformity, markedly reduced quadriceps strength, and pain on patellofemoral joint compression. Mild isolated PFJOA was barely distinguished from no radiographic OA (AUC 0.71, 95% CI 0.66, 0.76) with only difficulty descending stairs and coarse crepitus marginally informative over age, sex and body mass index. Other cardinal signs of knee OA - the presence of effusion, bony enlargement, reduced flexion range of movement, mediolateral instability and varus deformity - were indicators of tibiofemoral joint OA. Conclusions Early isolated PFJOA is clinically manifest in symptoms and self-reported functional limitation but has fewer clear clinical signs. More advanced disease is indicated by a small number of simple-to-assess signs and the relative absence of classic signs of knee OA, which are predominantly manifestations of tibiofemoral joint OA. Confident diagnosis of even more advanced PFJOA may be limited in the community setting. PMID:22417687

Atomic-Scale Lightning Rod Effect in Plasmonic Picocavities: A Classical View to a Quantum Effect.

PubMed

Urbieta, Mattin; Barbry, Marc; Zhang, Yao; Koval, Peter; Sánchez-Portal, Daniel; Zabala, Nerea; Aizpurua, Javier

2018-01-23

Plasmonic gaps are known to produce nanoscale localization and enhancement of optical fields, providing small effective mode volumes of about a few hundred nm 3 . Atomistic quantum calculations based on time-dependent density functional theory reveal the effect of subnanometric localization of electromagnetic fields due to the presence of atomic-scale features at the interfaces of plasmonic gaps. Using a classical model, we explain this as a nonresonant lightning rod effect at the atomic scale that produces an extra enhancement over that of the plasmonic background. The near-field distribution of atomic-scale hot spots around atomic features is robust against dynamical screening and spill-out effects and follows the potential landscape determined by the electron density around the atomic sites. A detailed comparison of the field distribution around atomic hot spots from full quantum atomistic calculations and from the local classical approach considering the geometrical profile of the atoms' electronic density validates the use of a classical framework to determine the effective mode volume in these extreme subnanometric optical cavities. This finding is of practical importance for the community of surface-enhanced molecular spectroscopy and quantum nanophotonics, as it provides an adequate description of the local electromagnetic fields around atomic-scale features with use of simplified classical methods.

An unexpected knock on Corrigan's secret door.

PubMed

Woywodt, Alexander

2010-10-01

Corrigan's secret door describes a metaphorical escape route for busy physicians. The term was derived from the successful and exceptionally busy professional life of Irish physician Dominic John Corrigan (1802-80). It is claimed that Corrigan's outpatient clinic was so busy that he required a secret door in his consulting rooms to escape from the ever-growing queue of eager patients. The origins of this charming story are unknown, and the door may have never existed. However, at present, Corrigan's secret door is often quoted when busy physicians have their own little ways in surviving a stressful professional life. Generations of British-trained doctors have grown up with Corrigan's secret door, as it was featured in the introduction of the Oxford Handbook of Clinical Medicine. Accordingly, trainees as well as more senior doctors are often reminded that having a 'secret door' is vital in surviving in the medical profession. My own escape is through classical music and the violoncello, in particular. As the name implies, my own secret door is normally invisible to colleagues and patients. This little article is about a patient who found me out, and a reflection on the role of classical music and the cello in my professional life.

1513A>C polymorphism in the P2X7 receptor gene in patients with papillary thyroid cancer: correlation with histological variants and clinical parameters.

PubMed

Dardano, Angela; Falzoni, Simonetta; Caraccio, Nadia; Polini, Antonio; Tognini, Sara; Solini, Anna; Berti, Piero; Di Virgilio, Francesco; Monzani, Fabio

2009-02-01

The modulation of the purinergic receptor P2X7 may be implicated in human carcinogenesis. The 1513A>C and 489C>T polymorphisms of P2X7R gene induce loss of function and gain of function, respectively. The aim of the study was to assess the frequency of both 1513A>C and 489C>T polymorphisms in patients with papillary thyroid carcinoma (PTC) and to evaluate the possible association with clinical and histological features. P2X7R analysis was performed in lymphocytes from 121 PTC patients (100 women, 21 men; aged 43.4 +/- 13.6 yr), 100 matched healthy subjects, and 80 patients with nodular goiter. The minor allele frequency for 1513A>C polymorphism in PTC patients with the classical variant was similar to controls (0.21 and 0.20, respectively), whereas it resulted in a significant increase in patients with the follicular variant (0.36; P = 0.01 vs. classical variant, and P = 0.005 vs. controls). In detail, 13.6% of patients with PTC follicular variant were homozygous for the 1513C allele, compared to 2.6% of patients with the classical variant and 2% of controls. Moreover, a positive relationship between 1513A>C polymorphism and either cancer diameter (Rho = 0.22; P = 0.02) or TNM stage (Rho = 0.38; P < 0.001) was found. No significant difference in the genotype frequency of 489C>T polymorphism between PTC patients and healthy controls was observed (0.42 and 0.47, respectively). Our data show, for the first time, a strong association between 1513A>C polymorphism of P2X7R gene and the follicular variant of PTC. Further studies are needed to confirm the possible role of this polymorphism as a novel clinical marker of PTC follicular variant and its usefulness in selecting patients with different clinical outcome.

Diagnosis of Polycystic Ovary Syndrome: AMH in combination with clinical symptoms.

PubMed

Sahmay, Sezai; Aydin, Yavuz; Oncul, Mahmut; Senturk, Levent M

2014-02-01

We assessed the utility of using anti-Müllerian hormone (AMH) and clinical features of polycystic ovary syndrome (PCOS), polycystic ovarian morphology (PCOM), oligo/amenorrhea (OA), and hyperandrogenism (HA) for diagnosing PCOS, and compared their diagnostic accuracy with those of classical diagnostic systems. A total of 606 females were admitted to a university hospital with menstrual irregularities or symptoms of hyperandrogenism were enrolled in this cross-sectional study. Fasting blood samples were collected. Pelvic and/or abdominal ultrasonography and clinical examination were performed. Patients were evaluated for the presence of PCOS according to conventional diagnostic criteria. The diagnostic performance of using serum AMH levels alone and in various combinations with the clinical features of PCOM, OA, and HA were investigated. For the diagnosis of PCOS, the combination of OA and/or HA with AMH showed 83% sensitivity and 100% specificity according to the Rotterdam criteria; 83% sensitivity and 89% specificity according to the National Institutes of Health (NIH) criteria; and 82% sensitivity and 93.5% specificity according to the Androgen Excess Society (AES) criteria. The serum AMH level is a useful diagnostic marker for PCOS and is correlated with conventional diagnostic criteria. The combination of AMH level with OA and/or HA markedly increased the clinical scope for PCOS diagnosis and can be introduced as a possible objective criterion for the diagnosis of this disease.

[Hepatic alterations in patients with dengue].

PubMed

Larreal, Yraima; Valero, Nereida; Estévez, Jesús; Reyes, Ivette; Maldonado, Mery; Espina, Luz Marina; Arias, Julia; Meleán, Eddy; Añez, German; Atencio, Ricardo

2005-06-01

Clinical features of Dengue are very variable due to multiple alterations induced by the virus in the organism. Increased levels of transaminases similar to those produced by the Hepatitis virus have been reported in patients with Dengue from hiperendemic zones in Asia. The objectives of this study were to determine alterations in the liver tests in patients with Dengue and to relate them to the disease, clinically and serologically. Clinical history, hemathological tests serum transaminases (ALT y AST) and bilirubin assays were performed in 62 patients with clinical and serological diagnosis of Dengue. According to clinical features 38.7% of the patients with classical (CD) and hemorrhagic (DHF) forms of Dengue reffered abdominal pain and 2 patients with DHF had ictericia and hepatomegaly. Laboratory test findings showed leucopenia in 72.5% in both forms of Dengue and of patients with DHF severe thrombocytopenia (< 50.000 platelets x mm3), long PT and PPT in 70.9%, 23.0% and 42.3%, respectively. Transaminase values five fold higher than the normal values (p < 0.005) were observed in 36.8% and 74.4% of patients with CD and DHF respectively; AST was predominant in both groups. Our results suggest liver damage during the course of Dengue. A differential diagnosis has to be done between the hepatic involvement of Dengue cases and others viral diseases with hepatic disfunctions.

Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis

PubMed Central

Tarquinio, Daniel C.; Hou, Wei; Neul, Jeffrey L.; Lane, Jane B.; Barnes, Katherine V.; O’Leary, Heather M.; Bruck, Natalie M.; Kaufmann, Walter E.; Motil, Kathleen J.; Glaze, Daniel G.; Skinner, Steven A.; Annese, Fran; Baggett, Lauren; Barrish, Judy O.; Geerts, Suzanne P.; Percy, Alan K.

2015-01-01

Purpose Diagnosis of Rett syndrome (RTT) is often delayed. We sought to determine type of physician who typically makes the diagnosis of RTT and to identify risk factors for delayed diagnosis. Methods One-thousand eighty-five participants from the multicenter longitudinal RTT natural history study with classic and atypical RTT were recruited from 2006 to 2014. Age of diagnosis, diagnostician, diagnostic criteria, clinical and developmental data were collected. Results Among 919 classic and 166 atypical RTT participants, median diagnosis age was 2.7 years (interquartile range 2.0–4.1) in classic and 3.8 years (interquartile range 2.3–6.9) in atypical RTT. Pediatricians made the diagnosis of classic RTT rarely (5.2%); however, proportion diagnosed by pediatricians increased since 2006. Since the first diagnostic criteria, the age of diagnosis decreased among subspecialists but not pediatricians. Odds of a pediatrician making the diagnosis of classic RTT were higher if a child stopped responding to parental interaction, and lower if they possessed gastro-esophageal reflux, specific stereotypies, lost babbling or the ability to follow commands. Delayed acquisition of basic gross motor skills or finger feeding were associated with younger diagnosis; delayed acquisition of higher level fine motor skills, later onset of supportive features, and normal head circumference were associated with late diagnosis. 33% with microcephaly before 2.5 years were diagnosed after the median age of 2.7 years. Conclusions Age of RTT diagnosis has improved among subspecialists, and pediatricians have made the diagnosis of classic RTT more frequently since 2006. Strategies for educating diagnosticians should incorporate specific risk factors for delayed diagnosis. PMID:25801175

The effects of diseases, drugs, and chemicals on the creativity and productivity of famous sculptors, classic painters, classic music composers, and authors.

PubMed

Wolf, Paul L

2005-11-01

Many myths, theories, and speculations exist as to the exact etiology of the diseases, drugs, and chemicals that affected the creativity and productivity of famous sculptors, classic painters, classic music composers, and authors. To emphasize the importance of a modern clinical chemistry laboratory and hematology coagulation laboratory in interpreting the basis for the creativity and productivity of various artists. This investigation analyzed the lives of famous artists, including classical sculptor Benvenuto Cellini; classical sculptor and painter Michelangelo Buonarroti; classic painters Ivar Arosenius, Edvard Munch, and Vincent Van Gogh; classic music composer Louis Hector Berlioz; and English essayist Thomas De Quincey. The analysis includes their illnesses, their famous artistic works, and the modern clinical chemistry, toxicology, and hematology coagulation tests that would have been important in the diagnosis and treatment of their diseases. The associations between illness and art may be close and many because of both the actual physical limitations of the artists and their mental adaptation to disease. Although they were ill, many continued to be productive. If modern clinical chemistry, toxicology, and hematology coagulation laboratories had existed during the lifetimes of these various well-known individuals, clinical laboratories might have unraveled the mysteries of their afflictions. The illnesses these people endured probably could have been ascertained and perhaps treated. Diseases, drugs, and chemicals may have influenced their creativity and productivity.

Experimental demonstration of chaotic scattering of microwaves

NASA Astrophysics Data System (ADS)

Doron, E.; Smilansky, U.; Frenkel, A.

1990-12-01

Reflection of microwaves from a cavity is measured in a frequency domain where the underlying classical chaotic scattering leaves a clear mark on the wave dynamics. We check the hypothesis that the fluctuations of the S matrix can be described in terms of parameters characterizing the chaotic classical scatteirng. Absorption of energy in the cavity walls is shown to significantly affect the results, and is linked to time-domain properties of the scattering in a general way. We also show that features whose origin is entirely due to wave dynamics (e.g., the enhancement of the Wigner time delay due to time-reversal symmetry) coexist with other features which characterize the underlying classical dynamics.

Trajectory description of the quantum–classical transition for wave packet interference

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

Chou, Chia-Chun, E-mail: ccchou@mx.nthu.edu.tw

2016-08-15

The quantum–classical transition for wave packet interference is investigated using a hydrodynamic description. A nonlinear quantum–classical transition equation is obtained by introducing a degree of quantumness ranging from zero to one into the classical time-dependent Schrödinger equation. This equation provides a continuous description for the transition process of physical systems from purely quantum to purely classical regimes. In this study, the transition trajectory formalism is developed to provide a hydrodynamic description for the quantum–classical transition. The flow momentum of transition trajectories is defined by the gradient of the action function in the transition wave function and these trajectories follow themore » main features of the evolving probability density. Then, the transition trajectory formalism is employed to analyze the quantum–classical transition of wave packet interference. For the collision-like wave packet interference where the propagation velocity is faster than the spreading speed of the wave packet, the interference process remains collision-like for all the degree of quantumness. However, the interference features demonstrated by transition trajectories gradually disappear when the degree of quantumness approaches zero. For the diffraction-like wave packet interference, the interference process changes continuously from a diffraction-like to collision-like case when the degree of quantumness gradually decreases. This study provides an insightful trajectory interpretation for the quantum–classical transition of wave packet interference.« less

Is Multiple Sclerosis an Autoimmune Disease?

PubMed Central

Wootla, Bharath; Eriguchi, Makoto; Rodriguez, Moses

2012-01-01

Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system (CNS) with varied clinical presentations and heterogeneous histopathological features. The underlying immunological abnormalities in MS lead to various neurological and autoimmune manifestations. There is strong evidence that MS is, at least in part, an immune-mediated disease. There is less evidence that MS is a classical autoimmune disease, even though many authors state this in the description of the disease. We show the evidence that both supports and refutes the autoimmune hypothesis. In addition, we present an alternate hypothesis based on virus infection to explain the pathogenesis of MS. PMID:22666554

Osteosarcoma: a comprehensive review

PubMed Central

Misaghi, Amirhossein; Goldin, Amanda; Awad, Moayd; Kulidjian, Anna A

2018-01-01

Osteosarcoma (OS) is a relatively rare tumor of bone with a worldwide incidence of 3.4 cases per million people per year. For most of the twentieth century, five-year survival rates for classic OS were very low. In the 1970s, the introduction of adjuvant chemotherapy in the treatment of OS increased survival rates dramatically. The current article reviews the various types of OS and analyzes the clinical and histological features. We also examine historical and current literature to present a succinct review of methods for diagnosis and staging, as well as treatment, and we also discuss some of the future directions of treatment. PMID:29629690

Polycythemia and Thrombocytosis.

PubMed

Parnes, Aric; Ravi, Arvind

2016-12-01

Myeloproliferative neoplasms (MPNs) are diseases of excess cell proliferation from bone marrow precursors. Two classic MPNs, polycythemia vera (PV) and essential thrombocytosis (ET), are conditions of excess proliferation of red blood cells and platelets, respectively. Although PV and ET involve different cells in the myeloid lineage, their clinical presentations have shared features, consistent with overlapping mutations in growth factor signaling. The management of both diseases involves minimizing the risk of thrombotic and hemorrhagic complications. Both PV and ET can progress to myelofibrosis or acute myeloid leukemia, portending a poor prognosis. MPNs can also present as primary myelofibrosis. Copyright © 2016 Elsevier Inc. All rights reserved.

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome.

PubMed

Doğan, Özlem Akgün; Şimşek Kiper, Pelin Özlem; Utine, Gülen Eda; Alikaşifoğlu, Mehmet; Boduroğlu, Koray

2017-03-01

Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years. Our aim is to increase awareness regarding the diagnostic features and complications of this recognizable syndrome among adult health care providers. Williams syndrome is usually diagnosed during infancy or childhood, but in the absence of classical findings, such as cardiovascular anomalies, hypercalcemia, and cognitive impairment, the diagnosis could be delayed. Due to the multisystemic and progressive nature of the syndrome, accurate diagnosis is critical for appropriate care and screening for the associated morbidities that may affect the patient's health and well-being.

Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification.

PubMed

De Antonio, M; Dogan, C; Hamroun, D; Mati, M; Zerrouki, S; Eymard, B; Katsahian, S; Bassez, G

2016-10-01

The broad clinical spectrum of myotonic dystrophy type 1 (DM1) creates particular challenges for both medical care and design of clinical trials. Clinical onset spans a continuum from birth to late adulthood, with symptoms that are highly variable in both severity and nature of the affected organ systems. In the literature, this complex phenotype is divided into three grades (mild, classic, and severe) and four or five main clinical categories (congenital, infantile/juvenile, adult-onset and late-onset forms), according to symptom severity and age of onset, respectively. However, these classifications are still under discussion with no consensus thus far. While some specific clinical features have been primarily reported in some forms of the disease, there are no clear distinctions. As a consequence, no modifications in the management of healthcare or the design of clinical studies have been proposed based on the clinical form of DM1. The present study has used the DM-Scope registry to assess, in a large cohort of DM1 patients, the robustness of a classification divided into five clinical forms. Our main aim was to describe the disease spectrum and investigate features of each clinical form. The five subtypes were compared by distribution of CTG expansion size, and the occurrence and onset of the main symptoms of DM1. Analyses validated the relevance of a five-grade model for DM1 classification. Patients were classified as: congenital (n=93, 4.5%); infantile (n=303, 14.8%); juvenile (n=628, 30.7%); adult (n=694, 34.0%); and late-onset (n=326, 15.9%). Our data show that the assumption of a continuum from congenital to the late-onset form is valid, and also highlights disease features specific to individual clinical forms of DM1 in terms of symptom occurrence and chronology throughout the disease course. These results support the use of the five-grade model for disease classification, and the distinct clinical profiles suggest that age of onset and clinical form may be key criteria in the design of clinical trials when considering DM1 health management and research. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

High-grade endometrial stromal sarcomas: a clinicopathologic study of a group of tumors with heterogenous morphologic and genetic features.

PubMed

Sciallis, Andrew P; Bedroske, Patrick P; Schoolmeester, John K; Sukov, William R; Keeney, Gary L; Hodge, Jennelle C; Bell, Debra A

2014-09-01

The existence of a "high-grade endometrial stromal sarcoma" category of tumors has been a controversial subject owing to, among other things, the difficulty in establishing consistent diagnostic criteria. Currently, the recommended classification for such tumors is undifferentiated uterine/endometrial sarcoma. Interest in this subject has recently increased markedly with the identification of recurrent molecular genetic abnormalities. At Mayo Clinic, a group of neoplasms has been observed that morphologically resemble, either cytologically or architecturally, classic "low-grade" endometrial stromal sarcoma but feature obvious deviations, specifically, 17 tumors with unequivocally high-grade morphology. These high-grade tumors displayed 3 morphologic themes: (1) tumors with a component that is identical to low-grade ESS that transitions abruptly into an obviously higher-grade component; (2) tumors composed exclusively of high-grade cells with uniform nuclear features but with a permeative pattern of infiltration; (3) tumors similar to the second group but with a different, yet characteristic, cytomorphology featuring enlarged round to ovoid cells (larger than those found in low-grade ESS) with smooth nuclear membranes and distinct chromatin clearing but lacking prominent nucleoli. We collected clinicopathologic data, applied immunohistochemical studies, and also tested tumors by fluorescence in situ hybridization for abnormalities in JAZF1, PHF1, YWHAE, and CCND1. Tumors from these 3 groups were found to be immunohistochemically and genetically distinct from one another. Most notable was the fact that category 3 contained all the cases that tested positive for YWHAE rearrangement, did not show any classic translocations for JAZF1, PHF1, or CCND1, often presented at a high stage, and behaved aggressively. This study demonstrates the morphologic, immunophenotypic, and molecular genetic heterogeneity that exists within "undifferentiated endometrial sarcomas" as currently defined and lends credence to the effort of subclassifying some tumors as truly "high-grade endometrial stromal sarcomas." Our study also shows that, in the context of undifferentiated endometrial sarcomas, recognition of cytomorphologic features on routine hematoxylin and eosin-stained sections may be used to select tumors with specific molecular genetic changes-that is, translocations involving YWHAE. Our conclusions will help further efforts towards proper sub-classification of these tumors which will aid in diagnosis and potentially affect clinical management.

Carcinoma of the small intestine and colon as a complication of Crohn disease: radiologic manifestation

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

Kerber, G.W.; Frank, P.H.

1984-03-01

Barium examinations of the large and small bowel were analyzed in six of seven patients who had adenocarcinoma in areas of the intestine affected with Crohn disease; radiographic changes were correlated with clinical, surgical, and pathologic findings. Radiographic examinations were available in five of these patients at the time of diagnosis of tumor. Two of the five patients demonstrated classic radiographic changes associated with carcinoma. In the other three cases, the radiographic changes were atypical for carcinoma and demonstrated progression of disease over time to include more portions of the bowel and presence of fistulas, strictures, and obstruction. The mostmore » frequent clinical presentation of adenocarcinoma in these patients was a recrudescence of symptoms after a long quiescent period. In patients with long-standing Crohn disease plus these clinical features and the above radiographic findings, the diagnosis of a coexisting carcinoma should be considered.« less

Therapeutic Applications of Classic Hallucinogens.

PubMed

Bogenschutz, Michael P; Ross, Stephen

2018-01-01

This chapter reviews what is known about the therapeutic uses of the serotonergic or classic hallucinogens, i.e., psychoactive drugs such as LSD and psilocybin that exert their effects primarily through agonist activity at serotonin 2A (5HT2A) receptors. Following a review of the history of human use and scientific study of these drugs, the data from clinical research are summarized, including extensive work on the use of classic hallucinogens in the treatment of alcoholism and other addictions, studies of the use of LSD and psilocybin to relieve distress concerning death, particularly in patients with advanced or terminal cancer, and more limited data concerning the use of classic hallucinogens to treat mood and anxiety disorders. A survey of possible mechanisms of clinically relevant effects is provided. The well-established safety of classic hallucinogens is reviewed. To provide a clinical perspective, case summaries are provided of two individuals who received treatment in recent controlled trials of psilocybin: one being treated for alcoholism, the other suffering from anxiety and depression related to fear of death due to a cancer diagnosis. Although promising early phase research conducted from the 1950s through the early 1970s was discontinued before firm conclusions could be reached concerning the efficacy of any of the classic hallucinogens for any clinical condition, the research that was conducted in that era strongly suggests that classic hallucinogens have clinically relevant effects, particularly in the case of LSD treatment of alcoholism. In the past decade, clinical trials have resumed investigating the effects of classic hallucinogens in the treatment of existential distress in the face of cancer, and in the treatment of addictions including alcoholism and nicotine addiction. The studies that have been completed to date are not sufficient to establish efficacy, but the outcomes have been very encouraging, and larger trials, up to and including phase 3, are now underway or being planned. Although research has elucidated many of the acute neurobiological and psychological effects of classic hallucinogens on humans, animals, and in vitro systems, the mechanisms of clinically relevant persisting effects remain poorly understood.

Lyme disease: a rigorous review of diagnostic criteria and treatment.

PubMed

Borchers, Andrea T; Keen, Carl L; Huntley, Arthur C; Gershwin, M Eric

2015-02-01

Lyme disease was originally identified in Lyme, Connecticut, based upon an unusual cluster of what appeared to be patients with juvenile rheumatoid arthritis. It was subsequently identified as a new clinical entity originally called Lyme arthritis based on the observation that arthritis was a major clinical feature. However, Lyme arthritis is now called Lyme disease based upon the understanding that the clinical features include not only arthritis, but also potential cardiac, dermatologic and neurologic findings. Lyme disease typically begins with an erythematous rash called erythema migrans (EM). Approximately 4-8% of patients develop cardiac, 11% develop neurologic and 45-60% of patients manifest arthritis. The disease is transmitted following exposure to a tick bite containing a spirochete in a genetically susceptible host. There is considerable data on spirochetes, including Borrelia burgdorferi (Bb), the original bacteria identified in this disease. Lyme disease, if an organism had not been identified, would be considered as a classic autoimmune disease and indeed the effector mechanisms are similar to many human diseases manifest as loss of tolerance. The clinical diagnosis is highly likely based upon appropriate serology and clinical manifestations. However, the serologic features are often misinterpreted and may have false positives if confirmatory laboratory testing is not performed. Antibiotics are routinely and typically used to treat patients with Lyme disease, but there is no evidence that prolonged or recurrent treatment with antibiotics change the natural history of Lyme disease. Although there are animal models of Lyme disease, there is no system that faithfully recapitulates the human disease. Further research on the effector mechanisms that lead to pathology in some individuals should be further explored to develop more specific therapy. Copyright © 2014 Elsevier Ltd. All rights reserved.

Pharmacophore mapping of arylbenzothiophene derivatives for MCF cell inhibition using classical and 3D space modeling approaches.

PubMed

Mukherjee, Subhendu; Nagar, Shuchi; Mullick, Sanchita; Mukherjee, Arup; Saha, Achintya

2008-01-01

Considering the worth of developing non-steroidal estrogen analogs, the present study explores the pharmacophore features of arylbenzothiophene derivatives for inhibitory activity to MCF-7 cells using classical QSAR and 3D space modeling approaches. The analysis shows that presence of phenolic hydroxyl group and ketonic linkage in the basic side chain of 2-arylbenzothiophene core of raloxifene derivatives are crucial. Additionally piperidine ring connected through ether linkage is favorable for inhibition of breast cancer cell line. These features for inhibitory activity are also highlighted through 3D space modeling approach that explored importance of critical inter features distance among HB-acceptor lipid, hydrophobic and HB-donor features in the arylbenzothiophene scaffold for activity.

Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases.

PubMed

Stagi, Stefano; Manoni, Cristina; Cirello, Valentina; Covelli, Danila; Giglio, Sabrina; Chiarelli, Francesco; Seminara, Salvatore; de Martino, Maurizio

2014-01-01

The syndrome of resistance to thyroid hormone (RTH) is characterized by elevated serum free thyroid hormones (FT4 and FT3) in the presence of unsuppressed TSH levels, reflecting resistance to the normal negative feedback mechanisms in the hypothalamus and pituitary. The degree of resistance within peripheral tissues determines whether thyrotoxic clinical features are associated with this condition. Classic features include attention deficit hyperactivity disorder, growth delay, tachycardia, and goiter. However, other features, such as frequent ear, nose and throat infections, hearing deficit, and decreased bone mass have recently been recognized. The phenotype of RTH is variable, with most patients presenting with mild to moderate symptoms. In this report we describe a girl with familiar RTH and diabetes mellitus. This is, to our knowledge, the first report regarding this association. Nearly one year after long-term triiodothyroacetic acid (Triac) therapy, we observed a reduction of thyroid hormone levels with an amelioration of insulin resistance. The possible interactions between these disorders are discussed.

Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate.

PubMed

Abdelgadir, Ibtihal Siddiq; Elgharbawy, Fawzia; Salameh, Khalil Mohamad; Juma, Baha Eldin

2017-11-14

Antenatal Bartter syndrome is a rare condition that can present with different clinical features. These features include early onset maternal polyhydramnios, failure to thrive, prematurity and nephrocalcinosis.We are presenting this 20-day-old girl who had an antenatal history of polyhydramnios. She developed persistent non-bilious vomiting that was associated with constipation soon after birth. She presented with failure to thrive and features suggestive of intestinal obstruction. On the initial evaluation, she was noted to have hypokalaemic, hyponatraemic metabolic alkalosis. The initial work-up was done to exclude surgical and renal causes of her presentation, and the diagnosis was confirmed by gene analysis to be type III-classic Bartter syndrome. She was closely monitored for her growth and development with the appropriate salt replacement therapy. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Deep Convolutional Neural Network-Based Early Automated Detection of Diabetic Retinopathy Using Fundus Image.

PubMed

Xu, Kele; Feng, Dawei; Mi, Haibo

2017-11-23

The automatic detection of diabetic retinopathy is of vital importance, as it is the main cause of irreversible vision loss in the working-age population in the developed world. The early detection of diabetic retinopathy occurrence can be very helpful for clinical treatment; although several different feature extraction approaches have been proposed, the classification task for retinal images is still tedious even for those trained clinicians. Recently, deep convolutional neural networks have manifested superior performance in image classification compared to previous handcrafted feature-based image classification methods. Thus, in this paper, we explored the use of deep convolutional neural network methodology for the automatic classification of diabetic retinopathy using color fundus image, and obtained an accuracy of 94.5% on our dataset, outperforming the results obtained by using classical approaches.

[Myotonic dystrophy - a new insight into a well-known disease].

PubMed

Lusakowska, Anna; Sułek-Piatkowska, Anna

2010-01-01

Myotonic dystrophy (DM), the most common dystrophy in adults, is an autosomal dominant disease characterized by a variety of multisystemic features. Two genetically distinct forms of DM are identified - type 1 (DM1), the classic form first described by Steinert, and type 2 (DM2), identified by Ricker. DM1 is caused by trinucleotide expansion of CTG in the myotonic dystrophy protein kinase gene, whereas in DM2 the expansion of tetranucleotide repeats (CCTG) in the zinc finger protein 9 gene was identified. Both mutations are dynamic and are located in non-coding parts of the genes. Phenotype variability of DM1 and DM2 is caused by a molecular mechanism due to mutated RNA toxicity. This paper reviews the clinical features of both types of myotonic dystrophies and summarizes current views on pathogenesis of myotonic dystrophy.

Post-traumatic stress disorder: the neurobiological impact of psychological trauma

PubMed Central

Sherin, Jonathan E.; Nemeroff, Charles B.

2011-01-01

The classic fight-or-flight response to perceived threat is a reflexive nervous phenomenon thai has obvious survival advantages in evolutionary terms. However, the systems that organize the constellation of reflexive survival behaviors following exposure to perceived threat can under some circumstances become dysregulated in the process. Chronic dysregulation of these systems can lead to functional impairment in certain individuals who become “psychologically traumatized” and suffer from post-traumatic stress disorder (PTSD), A body of data accumulated over several decades has demonstrated neurobiological abnormalities in PTSD patients. Some of these findings offer insight into the pathophysiology of PTSD as well as the biological vulnerability of certain populations to develop PTSD, Several pathological features found in PTSD patients overlap with features found in patients with traumatic brain injury paralleling the shared signs and symptoms of these clinical syndromes. PMID:22034143

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.

Intrahepatic cholestasis of pregnancy: When should you look further?

PubMed Central

Hardikar, Winita; Kansal, Shivani; Elferink, Ronald P J Oude; Angus, Peter

2009-01-01

Pruritis with abnormal liver function tests is the classical presentation of intrahepatic cholestasis of pregnancy (ICP), a condition associated with significant fetal complications. Although the etiology of ICP is unclear in many cases, certain features of the clinical presentation should alert the practitioner to the possibility of an underlying metabolic defect, which may not only affect subsequent pregnancies, but may be an indicator of more serious subsequent liver disease. We report a kindred of Anglo-Celtic descent, among whom many members present with ICP, gallstones or cholestasis related to use of oral contraception. Genetic studies revealed a novel mutation in the ABCB4 gene, which codes for a phospholipid transport protein. The clinical significance of this mutation and the importance of identifying such patients are discussed. PMID:19266607

Oral manifestations in Kindler syndrome: case report and discussion of literature findings.

PubMed

Barbosa, Nathalia Mocellin; Visioli, Fernanda; Martins, Manoela Domingues; Martins, Marco Antônio Trevizani; Munerato, Maria Cristina

2016-07-01

Kindler syndrome is a rare genetic disorder showing some predominant clinical manifestations, for example, trauma-induced blisters, progressive poikiloderma, skin atrophy, and photosensitivity. Oral manifestations are not commonly described and can be often misdiagnosed. This report describes the case of a female patient diagnosed with Kindler syndrome showing the classical clinical features affecting the skin, in addition to oral lesions manifesting as keratotic plaques and ulcers affecting the buccal mucosa, floor of the mouth, alveolar ridge, hard palate, and soft palate. An incisional biopsy was performed to confirm the diagnostic hypothesis of an autoimmune lesion possibly related with the syndrome. Knowledge about the possible manifestations of the Kindler syndrome is important to improve its management. © 2016 Special Care Dentistry Association and Wiley Periodicals, Inc.

Atypical clinical appearance of eosinophilic pustular folliculitis of seborrheic areas of the face.

PubMed

Matsumura, Yumi; Miyachi, Yoshiki

2012-01-01

Eosinophilic pustular folliculitis is a pruritic eruption that preferentially involves the face. It is characterized by well-demarcated erythema, extending peripherally with a central clearing and pigmentation, together with sterile pustules lining the periphery. We describe five cases of eosinophilic pustular folliculitis with pruritic papules and erythema on seborrheic areas of the face, which lacked the typical features of classic eosinophilic pustular folliculitis--pustules and peripheral extension--but showed eosinophilic infiltration of the hair follicles, histologically. The eruption quickly responded to oral indomethacin except for one case that responded to tranilast and one case that was associated with acquired immunodeficiency syndrome, with recurrences in defined areas of the face. Our findings in these cases suggest that eosinophilic pustular folliculitis may vary in clinical appearance.

TU-AB-207-01: Introduction to Tomosynthesis

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

Sechopoulos, I.

2015-06-15

Digital Tomosynthesis (DT) is becoming increasingly common in breast imaging and many other applications. DT is a form of computed tomography in which a limited set of projection images are acquired over a small angular range and reconstructed into a tomographic data set. The angular range and number of projections is determined both by the imaging task and equipment manufacturer. For example, in breast imaging between 9 and 25 projections are acquired over a range of 15° to 60°. It is equally valid to treat DT as the digital analog of classical tomography - for example, linear tomography. In fact,more » the name “tomosynthesis” is an acronym for “synthetic tomography”. DT shares many common features with classical tomography, including the radiographic appearance, dose, and image quality considerations. As such, both the science and practical physics of DT systems is a hybrid between CT and classical tomographic methods. This lecture will consist of three presentations that will provide a complete overview of DT, including a review of the fundamentals of DT, a discussion of testing methods for DT systems, and a description of the clinical applications of DT. While digital breast tomosynthesis will be emphasized, analogies will be drawn to body imaging to illustrate and compare tomosynthesis methods. Learning Objectives: To understand the fundamental principles behind tomosynthesis, including the determinants of image quality and dose. To learn how to test the performance of tomosynthesis imaging systems. To appreciate the uses of tomosynthesis in the clinic and the future applications of tomosynthesis.« less

TU-AB-207-00: Digital Tomosynthesis

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

NONE

2015-06-15

Digital Tomosynthesis (DT) is becoming increasingly common in breast imaging and many other applications. DT is a form of computed tomography in which a limited set of projection images are acquired over a small angular range and reconstructed into a tomographic data set. The angular range and number of projections is determined both by the imaging task and equipment manufacturer. For example, in breast imaging between 9 and 25 projections are acquired over a range of 15° to 60°. It is equally valid to treat DT as the digital analog of classical tomography - for example, linear tomography. In fact,more » the name “tomosynthesis” is an acronym for “synthetic tomography”. DT shares many common features with classical tomography, including the radiographic appearance, dose, and image quality considerations. As such, both the science and practical physics of DT systems is a hybrid between CT and classical tomographic methods. This lecture will consist of three presentations that will provide a complete overview of DT, including a review of the fundamentals of DT, a discussion of testing methods for DT systems, and a description of the clinical applications of DT. While digital breast tomosynthesis will be emphasized, analogies will be drawn to body imaging to illustrate and compare tomosynthesis methods. Learning Objectives: To understand the fundamental principles behind tomosynthesis, including the determinants of image quality and dose. To learn how to test the performance of tomosynthesis imaging systems. To appreciate the uses of tomosynthesis in the clinic and the future applications of tomosynthesis.« less

TU-AB-207-02: Testing of Body and Breast Tomosynthesis Sytems

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

Jones, A.

2015-06-15

Digital Tomosynthesis (DT) is becoming increasingly common in breast imaging and many other applications. DT is a form of computed tomography in which a limited set of projection images are acquired over a small angular range and reconstructed into a tomographic data set. The angular range and number of projections is determined both by the imaging task and equipment manufacturer. For example, in breast imaging between 9 and 25 projections are acquired over a range of 15° to 60°. It is equally valid to treat DT as the digital analog of classical tomography - for example, linear tomography. In fact,more » the name “tomosynthesis” is an acronym for “synthetic tomography”. DT shares many common features with classical tomography, including the radiographic appearance, dose, and image quality considerations. As such, both the science and practical physics of DT systems is a hybrid between CT and classical tomographic methods. This lecture will consist of three presentations that will provide a complete overview of DT, including a review of the fundamentals of DT, a discussion of testing methods for DT systems, and a description of the clinical applications of DT. While digital breast tomosynthesis will be emphasized, analogies will be drawn to body imaging to illustrate and compare tomosynthesis methods. Learning Objectives: To understand the fundamental principles behind tomosynthesis, including the determinants of image quality and dose. To learn how to test the performance of tomosynthesis imaging systems. To appreciate the uses of tomosynthesis in the clinic and the future applications of tomosynthesis.« less

Guillain-Barré Syndrome, variants & forms fruste: Reclassification with new criteria.

PubMed

Hiew, Fu Liong; Ramlan, Rahmansah; Viswanathan, Shanthi; Puvanarajah, Santhi

2017-07-01

This study aimed to evaluate the clinical and electrophysiological characteristics of various distinctive classical and localised Guillain-Barré syndrome (GBS) subtypes. Clinical characteristics and electrophysiological data of sixty-one consecutive patients admitted between 2012 and 2015 were systematically analysed and reclassified according to the new GBS clinical classification. Neurophysiology was evaluated with Hadden et al.'s vs recently proposed Rajabally et al.'s criteria. Functional severity and clinical outcome of various GBS subtypes were ascertained. All patients initially identified as GBS or related disorders can be sub-classified into having classical GBS (41, 67%), classic Miller-Fisher Syndrome (MFS) (6, 10%), Pharyngeal-cervical-brachial (PCB) (3, 5%), paraparetic GBS (4, 7%), bifacial weakness with paresthesia (3, 5%), acute ophthalmoparesis (AO) (1, 2%) and overlap syndrome (3, 5%): one (2%) with GBS/Bickerstaff brainstem encephalitis overlap and 2 (3%) with GBS/MFS overlap. Greater proportion of axonal classical GBS (67% vs 55%, p=0.372) seen with Rajabally et al.'s criteria and a predominantly axonal form of paraparetic variant (75%) independent of electrodiagnostic criteria were more representative of Asian GBS cohort. Classical GBS patients had lowest admission and discharge Medical Research Council Sum Score (MRCSS), greater functional disability and longest length of in-patient stay. Twenty (20/21, 95%) patients who needed mechanical ventilation had classical GBS. Patients required repeated dose of intravenous immunoglobulin (5/6, 3%) or plasma exchange (4/4, 100%) more frequently had axonal form of classical GBS. Phenotype recognition based on new GBS clinical classification, supported by electrodiagnostic study permits more precise clinical subtypes determination and outcome prognostication. Copyright © 2017 Elsevier B.V. All rights reserved.

Application of Linear Discriminant Analysis in Dimensionality Reduction for Hand Motion Classification

NASA Astrophysics Data System (ADS)

Phinyomark, A.; Hu, H.; Phukpattaranont, P.; Limsakul, C.

2012-01-01

The classification of upper-limb movements based on surface electromyography (EMG) signals is an important issue in the control of assistive devices and rehabilitation systems. Increasing the number of EMG channels and features in order to increase the number of control commands can yield a high dimensional feature vector. To cope with the accuracy and computation problems associated with high dimensionality, it is commonplace to apply a processing step that transforms the data to a space of significantly lower dimensions with only a limited loss of useful information. Linear discriminant analysis (LDA) has been successfully applied as an EMG feature projection method. Recently, a number of extended LDA-based algorithms have been proposed, which are more competitive in terms of both classification accuracy and computational costs/times with classical LDA. This paper presents the findings of a comparative study of classical LDA and five extended LDA methods. From a quantitative comparison based on seven multi-feature sets, three extended LDA-based algorithms, consisting of uncorrelated LDA, orthogonal LDA and orthogonal fuzzy neighborhood discriminant analysis, produce better class separability when compared with a baseline system (without feature projection), principle component analysis (PCA), and classical LDA. Based on a 7-dimension time domain and time-scale feature vectors, these methods achieved respectively 95.2% and 93.2% classification accuracy by using a linear discriminant classifier.

FUS GENE MUTATIONS IN FAMILIAL AND SPORADIC AMYOTROPHIC LATERAL SCLEROSIS

PubMed Central

Rademakers, Rosa; Stewart, Heather; DeJesus-Hernandez, Mariely; Krieger, Charles; Graff-Radford, Neill; Fabros, Marife; Briemberg, Hannah; Cashman, Neil; Eisen, Andrew; Mackenzie, Ian R. A.

2010-01-01

Introduction Mutations in the fused in sarcoma (FUS) gene have recently been found to cause familial amyotrophic lateral sclerosis (FALS). Methods We screened FUS in a cohort of 200 ALS patients [32 FALS and 168 sporadic ALS (SALS)]. Results In one FALS proband, we identified a mutation (p.R521C) that was also present in her affected daughter. Their clinical phenotype was remarkably similar and atypical of classic ALS, with symmetric proximal pelvic and pectoral weakness. Distal weakness and upper motor neuron features only developed late. Neuropathological examination demonstrated FUS-immunoreactive neuronal and glial inclusions in the spinal cord and many extramotor regions, but no TDP-43 pathology. We also identified a novel mutation (p.G187S) in one SALS patient. Overall, FUS mutations accounted for 3% of our non-SOD1, non-TARDBP FALS cases and 0.6% of SALS. Discussion This study demonstrates that the phenotype with FUS mutations extends beyond classical ALS. It suggests there are specific clinicogenetic correlations and provides the first detailed neuropathological description. PMID:20544928

Rickettsia parkeri rickettsiosis and its clinical distinction from Rocky Mountain spotted fever.

PubMed

Paddock, Christopher D; Finley, Richard W; Wright, Cynthia S; Robinson, Howard N; Schrodt, Barbara J; Lane, Carole C; Ekenna, Okechukwu; Blass, Mitchell A; Tamminga, Cynthia L; Ohl, Christopher A; McLellan, Susan L F; Goddard, Jerome; Holman, Robert C; Openshaw, John J; Sumner, John W; Zaki, Sherif R; Eremeeva, Marina E

2008-11-01

Rickettsia parkeri rickettsiosis, a recently identified spotted fever transmitted by the Gulf Coast tick (Amblyomma maculatum), was first described in 2004. We summarize the clinical and epidemiological features of 12 patients in the United States with confirmed or probable disease attributable to R. parkeri and comment on distinctions between R. parkeri rickettsiosis and other United States rickettsioses. Clinical specimens from patients in the United States who reside within the range of A. maculatum for whom an eschar or vesicular rash was described were evaluated by > or =1 laboratory assays at the Centers for Disease Control and Prevention (Atlanta, GA) to identify probable or confirmed infection with R. parkeri. During 1998-2007, clinical samples from 12 patients with illnesses epidemiologically and clinically compatible with R. parkeri rickettsiosis were submitted for diagnostic evaluation. Using indirect immunofluorescence antibody assays, immunohistochemistry, polymerase chain reaction assays, and cell culture isolation, we identified 6 confirmed and 6 probable cases of infection with R. parkeri. The aggregate clinical characteristics of these patients revealed a disease similar to but less severe than classically described Rocky Mountain spotted fever. Closer attention to the distinct clinical features of the various spotted fever syndromes that exist in the United States and other countries of the Western hemisphere, coupled with more frequent use of specific confirmatory assays, may unveil several unique diseases that have been identified collectively as Rocky Mountain spotted fever during the past century. Accurate assessments of these distinct infections will ultimately provide a more valid description of the currently recognized distribution, incidence, and case-fatality rate of Rocky Mountain spotted fever.

Longitudinal course of epilepsy in Rett syndrome and related disorders

PubMed Central

Tarquinio, Daniel C; Hou, Wei; Berg, Anne; Kaufmann, Walter E; Lane, Jane B; Skinner, Steven A; Motil, Kathleen J; Neul, Jeffrey L; Percy, Alan K; Glaze, Daniel G

2017-01-01

Abstract Epilepsy is common in Rett syndrome, an X-linked dominant disorder caused by mutations in the MECP2 gene, and in Rett-related disorders, such as MECP2 duplication. However, neither the longitudinal course of epilepsy nor the patterns of seizure onset and remission have been described in Rett syndrome and related conditions. The present study summarizes the findings of the Rett syndrome Natural History study. Participants with clinical Rett syndrome and those with MECP2 mutations without the clinical syndrome were recruited through the Rett Natural History study from 2006 to 2015. Clinical details were collected, and cumulative lifetime prevalence of epilepsy was determined using the Kaplan-Meier estimator. Risk factors for epilepsy were assessed using Cox proportional hazards models. Of 1205 participants enrolled in the study, 922 had classic Rett syndrome, and 778 of these were followed longitudinally for 3939 person-years. The diagnosis of atypical Rett syndrome with a severe clinical phenotype was associated with higher prevalence of epilepsy than those with classic Rett syndrome. While point prevalence of active seizures ranged from 30% to 44%, the estimated cumulative lifetime prevalence of epilepsy using Kaplan-Meier approached 90%. Specific MECP2 mutations were not significantly associated with either seizure prevalence or seizure severity. In contrast, many clinical features were associated with seizure prevalence; frequency of hospitalizations, inability to walk, bradykinesia, scoliosis, gastrostomy feeding, age of seizure onset, and late age of diagnosis were independently associated with higher odds of an individual having epilepsy. Aggressive behaviour was associated with lower odds. Three distinct patterns of seizure prevalence emerged in classic Rett syndrome, including those who did not have seizures throughout the study, those who had frequent relapse and remission, and those who had relentless seizures. Although 248 of those with classic Rett syndrome and a history of seizures were in terminal remission at last contact, only 74 (12% of those with a history of epilepsy) were seizure free and off anti-seizure medication. When studied longitudinally, point prevalence of active seizures is relatively low in Rett syndrome, although lifetime risk of epilepsy is higher than previously reported. While daily seizures are uncommon in Rett syndrome, prolonged remission is less common than in other causes of childhood onset epilepsy. Complete remission off anti-seizure medications is possible, but future efforts should be directed at determining what factors predict when withdrawal of medications in those who are seizure free is propitious. PMID:28007990

Novel and classical human astroviruses in stool and cerebrospinal fluid: comprehensive screening in a tertiary care hospital, Switzerland.

PubMed

Cordey, Samuel; Vu, Diem-Lan; Zanella, Marie-Celine; Turin, Lara; Mamin, Aline; Kaiser, Laurent

2017-09-20

Classical human astroviruses (HAstV) are the third most common cause of non-bacterial acute gastroenteritis. Due to the lack of routine molecular assays, novel HAstV are underdiagnosed and the magnitude of their contribution to clinical disease remains unknown. To better understand their prevalence and the susceptible patient profile, we conducted a comprehensive screening of novel and classical HAstV in stool and cerebrospinal fluid (CSF) samples collected for clinical care in a tertiary care hospital using a specially designed rRT-PCR panel for the detection of novel (MLB1-3 and VA1-4) and classical HAstV. Of the 654 stool samples, 20 were positive for HAstV, and the novel (n=10; 3 MLB1, 4 MLB2; 3 VA2) and classical (n=10) serotypes were equally prevalent. None of the 105 CSF samples were positive. Investigating the patient profile, we found a higher prevalence (P=0.0002) of both novel and classical HAstV in pediatric stool samples (3.4% and 3%, respectively) compared with adult stool samples (0.5% and 0.7%, respectively). Furthermore, all novel and classical HAstV-positive pediatric subjects were ≤four years old, demonstrating similar susceptible populations. Forty-five percent of positive patients were immunocompromised (novel: 40%, classical: 50%). A comparison of novel and classical HAstV-positive cases showed a lower viral load for novel HAstV (P=0.0007) with significantly more upper respiratory symptoms (70% of subjects; P=0.02); this observation may suggest a unique pathogenic pathway. This study confirms the clinical and epidemiological relevance of novel HAstV and identifies a target population in which routine screening may yield clinically valuable information.

Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.

PubMed

Bujan-Rivas, Segundo; Basagaña, Maria; Sena, Francisca; Méndez, Maria; Dordal, Maria Teresa; Gonzalez-Roca, Eva; Ruiz-Ortiz, Estibaliz; Mensa-Vilaró, Anna; Plaza, Susana; Modesto, Consuelo; Ordi-Ros, Josep; Yagüe, Jordi; Martínez-Valle, Ferrán; Aróstegui, Juan Ignacio

2017-01-01

Cryopyrin-associated periodic syndromes (CAPS) usually start during infancy as an urticarial-like rash and a marked acute phase response, with additional manifestations appearing during its evolution. The aim of this study was to expand the clinical diversity of CAPS by the description of novel atypical features. Clinical data were collected from patients' medical charts. Sanger sequencing analyzed NLRP3. Response to anti-IL-1 blockade was evaluated by clinical assessments and by measurements of laboratory parameters. Seventeen patients from two families (A and B), carrying the p.Ala439Thr and p.Arg260Trp NLRP3 mutations respectively, were enrolled. The disease was unexpectedly atypical in all members of Family A, with a 16-year-old asymptomatic carrier, and onset in adulthood associated with absence of skin lesions in four affected members. Surprisingly, one patient from each family suffered from severe haemorrhagic cystitis due to AA amyloidosis in the urinary bladder. Members of Family B displayed a classical phenotype, with two patients suffering from olfactive disorders. Our evidence suggests that CAPS may occasionally be presented as a late-onset, recurrent inflammatory disease without urticarial-like rash. In some patients, AA amyloidosis in strange locations like urinary bladder may complicate the clinical course. The response to IL-1 blockade in these atypical CAPS was similar to that described in classical forms. Consequently, we suggest that CAPS should be included in the differential diagnosis of adult patients with unexplained, recurrent inflammatory diseases, and once confirmed, the early initiation of anti-IL-1 blockade will probably prevent the development of life-threatening complications.

Gastrointestinal Diagnosis of Classical Whipple Disease: Clinical, Endoscopic, and Histopathologic Features in 191 Patients

PubMed Central

Günther, Ute; Moos, Verena; Offenmüller, Gabriel; Oelkers, Gerrit; Heise, Walther; Moter, Annette; Loddenkemper, Christoph; Schneider, Thomas

2015-01-01

Abstract Classic Whipple disease (CWD) is a systemic infection caused by Tropheryma whipplei. Different diagnostic tools have been developed over the last decades: periodic acid-Schiff (PAS) staining, T whipplei-specific polymerase chain reaction (PCR), and T whipplei-specific immunohistochemistry (IHC). Despite all these advances, CWD is still difficult to diagnose because of a variety of clinical symptoms and possibly a long time span between first unspecific symptoms and the full-blown clinical picture of the disease. Herein, we report an observational cohort study summarizing epidemiologic data, clinical manifestations, and diagnostic parameters of 191 patients with CWD collected at our institution. Gastrointestinal manifestations are the most characteristic symptoms of CWD affecting 76% of the cohort. Although the small bowel was macroscopically conspicuous in only 27% of cases, 173 (91%) patients presented with characteristic histological changes in small bowel biopsies (in 2 patients, these changes were only seen within the ileum). However, 18 patients displayed normal small bowel histology without typical PAS staining. In 9 of these patients, alternative test were positive from their duodenal specimens (ie, T whipplei-specific PCR and/or IHC). Thus, in 182 patients (95%) a diagnostic hint toward CWD was obtained from small bowel biopsies. Only 9 patients (5%) were diagnosed solely based on positive T whipplei-specific PCR and/or IHC of extraintestinal fluids (eg, cerebrospinal fluid, synovial fluid) or extraintestinal tissue (eg, lymph node, synovial tissue), respectively. Thus, despite efforts to diagnose CWD from alternative specimens, gastroscopy with duodenal biopsy and subsequent histological and molecular–biological examination is the most reliable diagnostic tool for CWD. PMID:25881849

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

PubMed

Rodríguez Cruz, Pedro M; Belaya, Katsiaryna; Basiri, Keivan; Sedghi, Maryam; Farrugia, Maria Elena; Holton, Janice L; Liu, Wei Wei; Maxwell, Susan; Petty, Richard; Walls, Timothy J; Kennett, Robin; Pitt, Matthew; Sarkozy, Anna; Parton, Matt; Lochmüller, Hanns; Muntoni, Francesco; Palace, Jacqueline; Beeson, David

2016-08-01

Congenital myasthenic syndrome (CMS) due to mutations in GMPPB has recently been reported confirming the importance of glycosylation for the integrity of neuromuscular transmission. Review of case notes of patients with mutations in GMPPB to identify the associated clinical, neurophysiological, pathological and laboratory features. In addition, serum creatine kinase (CK) levels within the Oxford CMS cohort were retrospectively analysed to assess its usefulness in the differential diagnosis of this new entity. All patients had prominent limb-girdle weakness with minimal or absent craniobulbar manifestations. Presentation was delayed beyond infancy with proximal muscle weakness and most patients recall poor performance in sports during childhood. Neurophysiology showed abnormal neuromuscular transmission only in the affected muscles and myopathic changes. Muscle biopsy showed dystrophic features and reduced α-dystroglycan glycosylation. In addition, myopathic changes were present on muscle MRI. CK was significantly increased in serum compared to other CMS subtypes. Patients were responsive to pyridostigimine alone or combined with 3,4-diaminopyridine and/or salbutamol. Patients with GMPPB-CMS have phenotypic features aligned with CMS subtypes harbouring mutations within the early stages of the glycosylation pathway. Additional features shared with the dystroglycanopathies include myopathic features, raised CK levels and variable mild cognitive delay. This syndrome underlines that CMS can occur in the absence of classic myasthenic manifestations such as ptosis and ophthalmoplegia or facial weakness, and links myasthenic disorders with dystroglycanopathies. This report should facilitate the recognition of this disorder, which is likely to be underdiagnosed and can benefit from symptomatic treatment. 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/

Primary perivascular epithelioid cell tumors of the liver: CT/MRI findings and clinical outcomes.

PubMed

O'Malley, Martin E; Chawla, Tanya P; Lavelle, Lisa P; Cleary, Sean; Fischer, Sandra

2017-06-01

The purpose of our study was to describe the CT and MRI features of primary PEComas of the liver and to document the associated clinical outcomes. Retrospective study included 20 patients with primary hepatic perivascular epithelioid cell tumors (PEComa) with pathology and clinical outcomes for correlation. Study group included 20 patients: 16 women, 4 men; mean age 53 (range 35-77) years. Initial pathology diagnoses were classic angiomyolipoma (AML) (n = 11), epithelioid AML (n = 7), and PEComa not otherwise specified (n = 2). Mean tumor size was 5.1 (range 1.3-15.0) cm. CT/MRI features included well-defined margins 20/20 (100%), arterial enhancement 18/19 (95%), subcapsular location 17/20 (85%), heterogeneous 16/20 (80%), dysmorphic vessels 14/20 (70%), fat 13/20 (65%), hemorrhage 4/20 (20%), cystic components 4/20 (20%), and calcification 1/20 (5%). At the time of discovery, 18 patients were asymptomatic and their tumors were incidentally detected on imaging, and 2 patients were symptomatic. Ultimately, 18 tumors were benign and 2 developed metastases. On CT/MRI, most primary hepatic PEComas were well-defined, arterial enhancing, subcapsular, heterogeneous masses that often had dysmorphic vessels and contained fat. Most tumors were benign but complications included local symptoms, bleeding, and malignant change.

Idiopathic Juxtafoveolar Retinal Telangiectasis: A Current Review

PubMed Central

Nowilaty, Sawsan R.; Al-Shamsi, Hanan N.; Al-Khars, Wajeeha

2010-01-01

Idiopathic juxtafoveolar retinal telangiectasis (IJFT), also known as parafoveal telangiectasis or idiopathic macular telangiectasia, refers to a heterogeneous group of well-recognized clinical entities characterized by telangiectatic alterations of the juxtafoveolar capillary network of one or both eyes, but which differ in appearance, presumed pathogenesis, and management strategies. Classically, three groups of IJFT are identified. Group I is unilateral easily visible telangiectasis occurring predominantly in males, and causing visual loss as a result of macular edema. Group II, the most common, is bilateral occurring in both middle-aged men and women, and presenting with telangiectasis that is more difficult to detect on biomicroscopy, but with characteristic and diagnostic angiographic and optical coherence tomography features. Vision loss is due to retinal atrophy, not exudation, and subretinal neovascularization is common. Group III is very rare characterized predominantly by progressive obliteration of the perifoveal capillary network, occurring usually in association with a medical or neurologic disease. This paper presents a current review of juxtafoveolar retinal telangiectasis, reviewing the classification of these entities and focusing primarily on the two most common types encountered in clinical practice, i.e., groups I and II, describing their clinical features, histopathology, natural history, complications, latest results from imaging modalities and functional studies, differential diagnosis, and treatment modalities. PMID:20844678

Rabies: the clinical features, management and prevention of the classic zoonosis.

PubMed

Warrell, Mary J; Warrell, David A

2015-02-01

The diagnosis of rabies encephalitis relies on awareness of the varied clinical features and eliciting a history of unusual contact with a mammal throughout the endemic area. The diagnosis is easily missed. Laboratory tests are not routine and only confirm clinical suspicion. Rabies infection carries a case fatality exceeding 99.9%. Palliation is appropriate, except for previously-vaccinated patients or those infected by American bats, for whom intensive care is probably indicated. However, as rabies vaccines are outstandingly effective, no one should die of dog-transmitted infection. Vaccines and rabies immunoglobulin are expensive and usually scarce in Asia and Africa. All travellers to dog rabies enzootic areas should be strongly encouraged to have pre-exposure immunisation before departure. There is no contraindication to vaccination but the cost can be prohibitive. Intradermal immunisation, using 0.1 ml and sharing vials of vaccine, is cheaper and is now permitted by UK regulations. Returning travellers may need post-exposure prophylaxis. Economical intradermal post-exposure vaccination is practicable and should be introduced into rural areas of Africa and Asia immediately. Eliminating rabies in dogs is now feasible and would dramatically reduce human mortality, if funds were made available. The high current economic burden of human prophylaxis would then be largely relieved. © 2015 Royal College of Physicians.

Genetic syndromes associated with overgrowth in childhood

PubMed Central

2013-01-01

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

Auditory Profiles of Classical, Jazz, and Rock Musicians: Genre-Specific Sensitivity to Musical Sound Features.

PubMed

Tervaniemi, Mari; Janhunen, Lauri; Kruck, Stefanie; Putkinen, Vesa; Huotilainen, Minna

2015-01-01

When compared with individuals without explicit training in music, adult musicians have facilitated neural functions in several modalities. They also display structural changes in various brain areas, these changes corresponding to the intensity and duration of their musical training. Previous studies have focused on investigating musicians with training in Western classical music. However, musicians involved in different musical genres may display highly differentiated auditory profiles according to the demands set by their genre, i.e., varying importance of different musical sound features. This hypothesis was tested in a novel melody paradigm including deviants in tuning, timbre, rhythm, melody transpositions, and melody contour. Using this paradigm while the participants were watching a silent video and instructed to ignore the sounds, we compared classical, jazz, and rock musicians' and non-musicians' accuracy of neural encoding of the melody. In all groups of participants, all deviants elicited an MMN response, which is a cortical index of deviance discrimination. The strength of the MMN and the subsequent attentional P3a responses reflected the importance of various sound features in each music genre: these automatic brain responses were selectively enhanced to deviants in tuning (classical musicians), timing (classical and jazz musicians), transposition (jazz musicians), and melody contour (jazz and rock musicians). Taken together, these results indicate that musicians with different training history have highly specialized cortical reactivity to sounds which violate the neural template for melody content.

Auditory Profiles of Classical, Jazz, and Rock Musicians: Genre-Specific Sensitivity to Musical Sound Features

PubMed Central

Tervaniemi, Mari; Janhunen, Lauri; Kruck, Stefanie; Putkinen, Vesa; Huotilainen, Minna

2016-01-01

When compared with individuals without explicit training in music, adult musicians have facilitated neural functions in several modalities. They also display structural changes in various brain areas, these changes corresponding to the intensity and duration of their musical training. Previous studies have focused on investigating musicians with training in Western classical music. However, musicians involved in different musical genres may display highly differentiated auditory profiles according to the demands set by their genre, i.e., varying importance of different musical sound features. This hypothesis was tested in a novel melody paradigm including deviants in tuning, timbre, rhythm, melody transpositions, and melody contour. Using this paradigm while the participants were watching a silent video and instructed to ignore the sounds, we compared classical, jazz, and rock musicians' and non-musicians' accuracy of neural encoding of the melody. In all groups of participants, all deviants elicited an MMN response, which is a cortical index of deviance discrimination. The strength of the MMN and the subsequent attentional P3a responses reflected the importance of various sound features in each music genre: these automatic brain responses were selectively enhanced to deviants in tuning (classical musicians), timing (classical and jazz musicians), transposition (jazz musicians), and melody contour (jazz and rock musicians). Taken together, these results indicate that musicians with different training history have highly specialized cortical reactivity to sounds which violate the neural template for melody content. PMID:26779055

An unexpected knock on Corrigan’s secret door

PubMed Central

Woywodt, Alexander

2010-01-01

Corrigan’s secret door describes a metaphorical escape route for busy physicians. The term was derived from the successful and exceptionally busy professional life of Irish physician Dominic John Corrigan (1802–80). It is claimed that Corrigan’s outpatient clinic was so busy that he required a secret door in his consulting rooms to escape from the ever-growing queue of eager patients. The origins of this charming story are unknown, and the door may have never existed. However, at present, Corrigan’s secret door is often quoted when busy physicians have their own little ways in surviving a stressful professional life. Generations of British-trained doctors have grown up with Corrigan’s secret door, as it was featured in the introduction of the Oxford Handbook of Clinical Medicine. Accordingly, trainees as well as more senior doctors are often reminded that having a ‘secret door’ is vital in surviving in the medical profession. My own escape is through classical music and the violoncello, in particular. As the name implies, my own secret door is normally invisible to colleagues and patients. This little article is about a patient who found me out, and a reflection on the role of classical music and the cello in my professional life. PMID:25984078

Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome.

PubMed

Kim, Dong Wook; Lim, Byung Chan; Kim, Ki Joong; Chae, Jong Hee; Lee, Ran; Lee, Sang Kun

2013-10-01

Genetic mutations in SCN1A account for more than two-thirds of patients with classic Dravet syndrome. A role for SCN1A genetic mutations in the development of hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome was recently suggested based on the observation that HHE syndrome and classic Dravet syndrome share many clinical features. We previously identified a 2 bp-deletion mutation in SCN1A in a Dravet patient, and we found out the patient also had HHE syndrome upon clinical re-evaluation. We subsequently screened 10 additional HHE patients for SCN1A. Among the 11 patients who were diagnosed with HHE syndrome, six patients had no other etiology with the exception of prolonged febrile illness, therefore classified as idiopathic HHE syndrome, whereas five patients were classified as symptomatic HHE syndrome. Direct sequencing of all coding exons and flanking intronic sequences of the SCN1A gene was performed, but we failed to identify additional mutations in 10 patients. The patient with SCN1A mutation had the earliest onset of febrile convulsion and hemiparesis. Our study suggests that SCN1A genetic mutation is only a rare predisposing cause of HHE syndrome. Copyright © 2013 Elsevier B.V. All rights reserved.

Cancer and autoimmunity: autoimmune and rheumatic features in patients with malignancies

PubMed Central

Abu-Shakra, M; Buskila, D; Ehrenfeld, M; Conrad, K; Shoenfeld, Y

2001-01-01

OBJECTIVES—To review the autoimmune and rheumatic manifestations of patients with malignancy.
METHODS—A Medline search of all published papers using keywords related to malignancies, autoimmunity, rheumatic diseases, and paraneoplastic syndromes.
RESULTS—Patients with malignant diseases may develop autoimmune phenomena and rheumatic diseases as a result of (a) generation of autoantibodies against various autoantigens, including oncoproteins (P185, 1-myc, c-myc, c-myb), tumour suppression genes (P53), proliferation associated antigens (cyclin A, B1, D1, E; CENP-F; CDK, U3-RNP), onconeural antigens (Hu, Yo, Ri, Tr), cancer/testis antigens (MAGE, GAGE, BAGE, SSX, ESO, SCP, CT7), and rheumatic disease associated antigens (RNP, Sm). The clinical significance of the various autoantibodies is not clear. Anti-oncoprotein and anti-tumour suppression gene antigens are detected before the diagnosis of the cancer or in the early stages of the malignant disease, suggesting a potential diagnostic or prognostic role. Anti-onconeural antibodies are pathogenic and are associated with specific clinical neurological syndromes (anti-Hu syndrome and others). (b) Paraneoplastic syndromes, a wide range of clinical syndromes, including classic autoimmune rheumatic diseases that develop among patients with cancer. (c) Rheumatism after chemotherapy, a clinical entity characterised by the development of musculoskeletal symptoms after combination chemotherapy for malignancy.
CONCLUSION—Autoimmune and rheumatic features are not rare among patients with malignancies. They are the result of various diverse mechanisms and occasionally they may be associated with serious clinical entities.

 PMID:11302861

Limited utility of routine surveillance imaging for classical Hodgkin lymphoma patients in first complete remission.

PubMed

Pingali, Sai Ravi; Jewell, Sarah W; Havlat, Luiza; Bast, Martin A; Thompson, Jonathan R; Eastwood, Daniel C; Bartlett, Nancy L; Armitage, James O; Wagner-Johnston, Nina D; Vose, Julie M; Fenske, Timothy S

2014-07-15

The objective of this study was to compare the outcomes of patients with classical Hodgkin lymphoma (cHL) who achieved complete remission with frontline therapy and then underwent either clinical surveillance or routine surveillance imaging. In total, 241 patients who were newly diagnosed with cHL between January 2000 and December 2010 at 3 participating tertiary care centers and achieved complete remission after first-line therapy were retrospectively analyzed. Of these, there were 174 patients in the routine surveillance imaging group and 67 patients in the clinical surveillance group, based on the intended mode of surveillance. In the routine surveillance imaging group, the intended plan of surveillance included computed tomography and/or positron emission tomography scans; whereas, in the clinical surveillance group, the intended plan of surveillance was clinical examination and laboratory studies, and scans were obtained only to evaluate concerning signs or symptoms. Baseline patient characteristics, prognostic features, treatment records, and outcomes were collected. The primary objective was to compare overall survival for patients in both groups. For secondary objectives, we compared the success of second-line therapy and estimated the costs of imaging for each group. After 5 years of follow-up, the overall survival rate was 97% (95% confidence interval, 92%-99%) in the routine surveillance imaging group and 96% (95% confidence interval, 87%-99%) in the clinical surveillance group (P = .41). There were few relapses in each group, and all patients who relapsed in both groups achieved complete remission with second-line therapy. The charges associated with routine surveillance imaging were significantly higher than those for the clinical surveillance strategy, with no apparent clinical benefit. Clinical surveillance was not inferior to routine surveillance imaging in patients with cHL who achieved complete remission with frontline therapy. Routine surveillance imaging was associated with significantly increased estimated imaging charges. © 2014 American Cancer Society.

Lymphocytic Colitis: Pathologic predictors of response to therapy.

PubMed

Setia, Namrata; Alpert, Lindsay; van der Sloot, Kimberley Wj; Colussi, Dora; Stewart, Kathleen O; Misdraji, Joseph; Khalili, Hamed; Lauwers, Gregory Y

2018-02-13

While the presence of intraepithelial lymphocytosis with surface epithelial damage is a unifying feature of lymphocytic colitis, there are non-classical features that create morphologic heterogeneity between cases. Limited data are available on the significance of these secondary histologic features. Cases of lymphocytic colitis diagnosed between 2002 and 2013 were identified using the Research Patient Data Registry of a tertiary referral center. Diagnostic biopsy slides were reviewed and evaluated for histologic features of lymphocytic colitis. Clinical data including type of therapy and response to treatment were collected. Chi-square (or Fischer's exact test) and logistic regression analysis were used where appropriate. Thirty-two cases of lymphocytic colitis with complete clinical data and slides available for review were identified. The mean age was 56.4 years, and the female-to-male ratio was 3:2. Eleven (11) patients improved with minimal intervention (Group 1), 14 patients responded to steroid therapy (Group 2), and 7 patients responded to mesalamine, bismuth subsalicylate and/or cholestyramine therapy (Group 3). Histologic differences in the characteristics of the subepithelial collagen table (p=0.018), the severity of lamina propria inflammation (p=0.042) and the presence of eosinophil clusters (p=0.016) were seen between groups 2 and 3. Patients in group 1 were more likely to have mild crypt architectural distortion in their biopsies than patients in groups 2 and 3. Lymphocytic colitis is a heterogeneous disease and the evaluation of histologic factors may help identify various subtypes and predict therapy response. Copyright © 2018. Published by Elsevier Inc.

Bartter syndrome presenting as poor weight gain and abdominal mass in an infant.

PubMed

Heffernan, Annie; Steffensen, Thora S; Gilbert-Barness, Enid; Perlman, Sharon

2008-01-01

Bartter syndrome, a group of disorders that encompasses multiple genetic defects with similar clinical presentation, has been divided into six different genotypes, according to different genetic defects, and into three main clinical variants (or phenotypes). Classic laboratory findings in all variants include hypochloremia, hypokalemia, and metabolic alkalosis with excessive excretion of chloride and potassium. Classic Bartter syndrome, neonatal Bartter syndrome, and Gitelman syndrome are the three main clinical variants. Classic Bartter syndrome and neonatal Bartter syndrome have defects in genes that affect transport channels in the ascending loop of Henle, where as in Gitleman syndrome the defect occurs in the transport channels of the distal convoluted tubule. Classic Bartter syndrome and neonatal Bartter syndrome have similar presenting symptoms, potential outcomes, and treatment, but different ages at presentation. Gitelman syndrome, a more benign condition than the other clinical variants, has the classic hallmark finding of hypomagnesemia and low to normal excretion of calcium. This differentiates it from the classic and neonatal variants of the disease. With early diagnosis and proper treatment, Bartter syndrome has a good prognosis. But failure to identify it can lead to tubulointerstitial nephritis and renal failure. We present a case of a 6-month-old boy with Bartter syndrome who presented with poor weight gain and an abdominal mass.

Clinicopathologic features and management of blastoid variant of mantle cell lymphoma.

PubMed

Shrestha, Rajesh; Bhatt, Vijaya Raj; Guru Murthy, Guru Subramanian; Armitage, James O

2015-01-01

The blastoid variant of mantle cell lymphoma (MCL), which accounts for less than one-third of MCL, may arise de novo or as a transformation from the classical form of MCL. Blastoid variant, which predominantly involves men in their sixth decade, has frequent extranodal involvement (40-60%), stage IV disease (up to 85%) and central nervous system (CNS) involvement. Diagnosis relies on morphological features and is challenging. Immunophenotyping may display CD23 and CD10 positivity and CD5 negativity in a subset. Genetic analysis demonstrates an increased number of complex genetic alterations. Blastoid variant responds poorly to conventional chemotherapy and has a short duration of response. Although the optimal therapy remains to be established, CNS prophylaxis and the use of aggressive immunochemotherapy followed by autologous stem cell transplant may prolong the remission rate and survival. Further studies are crucial to expand our understanding of this disease entity and improve the clinical outcome.

Electroencephalography in the Diagnosis of Genetic Generalized Epilepsy Syndromes

PubMed Central

Seneviratne, Udaya; Cook, Mark J.; D’Souza, Wendyl Jude

2017-01-01

Genetic generalized epilepsy (GGE) consists of several syndromes diagnosed and classified on the basis of clinical features and electroencephalographic (EEG) abnormalities. The main EEG feature of GGE is bilateral, synchronous, symmetric, and generalized spike-wave complex. Other classic EEG abnormalities are polyspikes, epileptiform K-complexes and sleep spindles, polyspike-wave discharges, occipital intermittent rhythmic delta activity, eye-closure sensitivity, fixation-off sensitivity, and photoparoxysmal response. However, admixed with typical changes, atypical epileptiform discharges are also commonly seen in GGE. There are circadian variations of generalized epileptiform discharges. Sleep, sleep deprivation, hyperventilation, intermittent photic stimulation, eye closure, and fixation-off are often used as activation techniques to increase the diagnostic yield of EEG recordings. Reflex seizure-related EEG abnormalities can be elicited by the use of triggers such as cognitive tasks and pattern stimulation during the EEG recording in selected patients. Distinct electrographic abnormalities to help classification can be identified among different electroclinical syndromes. PMID:28993753

Frederick Novy and the 1901 San Francisco plague commission investigation.

PubMed

Kazanjian, Powel

2012-11-15

The 1900 San Francisco plague is a significant event in which citizens, physicians, and public health officials denied a diagnosis of plague on economic, political, and social grounds. To resolve the controversy, Surgeon General Walter Wyman appointed an independent federal commission of university-based experts to investigate whether plague was present. I use the activities of Frederick Novy, the commission bacteriologist and professor at the University of Michigan, to explore one circumstance in which bacteriology attempted to redefine traditional conceptions of disease during the early germ era. Novy showed plague was present in the city but without its characteristic clinical features and devastating epidemiological pattern. Physicians who understood plague by its classic features, however, contested Novy's scientific evidence. His bacteriologic redefinition had no special authority to prevail over opposing conceptions about plague; it was accepted and acted upon once it served the overall interest of the city--to avert a trade embargo.

Generalized probability theories: what determines the structure of quantum theory?

NASA Astrophysics Data System (ADS)

Janotta, Peter; Hinrichsen, Haye

2014-08-01

The framework of generalized probabilistic theories is a powerful tool for studying the foundations of quantum physics. It provides the basis for a variety of recent findings that significantly improve our understanding of the rich physical structure of quantum theory. This review paper tries to present the framework and recent results to a broader readership in an accessible manner. To achieve this, we follow a constructive approach. Starting from a few basic physically motivated assumptions we show how a given set of observations can be manifested in an operational theory. Furthermore, we characterize consistency conditions limiting the range of possible extensions. In this framework classical and quantum theory appear as special cases, and the aim is to understand what distinguishes quantum mechanics as the fundamental theory realized in nature. It turns out that non-classical features of single systems can equivalently result from higher-dimensional classical theories that have been restricted. Entanglement and non-locality, however, are shown to be genuine non-classical features.

Hypertriglyceridemia thalassemia syndrome.

PubMed

Jain, Mili; Ali, Wahid; Singh, Brijendra Bahadur; Verma, Nishant; Kumar, Ashutosh

2018-06-14

Hypertriglyceridemia thalassemia syndrome is a rare entity with an unknown pathogenetic link. We report a case of an 8-month-old female with thalassemia major and increased triglyceride (TG) levels. The clinical features were as in classical thalassemia except for a white discoloration of the plasma. After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome was made. The high levels of TG in these patients are associated with oxidative stress and higher risk of acute pancreatitis and coronary diseases. An early recognition is thus essential. In our patient, the levels reduced after a transfusion therapy similar to previous reports.

Alveolar hemorrhage in a case of fat embolism syndrome: A case report with short systemic review.

PubMed

Dash, Sananta Kumar; Bansal, Avdesh; Wankhade, Bhushan Sudhakar; Sharma, Rakesh

2013-04-01

Fat embolism and fat embolism syndrome (FES) are well-known complications of long bone fracture and surgery involving manipulation of skeletal elements. Many non-traumatic causes of FES have been suggested but they constitute only a small portion. FES presents with classical symptoms of petechiae, hypoxemia, central nervous system symptoms along with other features such as tachycardia and pyrexia. Diagnosis of FES relies on clinical judgment rather than objective findings such as emboli present in the retinal vessels on fundoscopy, fat globules present in urine and sputum, a sudden inexplicable drop in hematocrit or platelet values, increasing erythrocyte sedimentation rate.

[Cerebrotendinous xanthomatosis is a rare disorder, which requires a specific treatment].

PubMed

Blaabjerg, Morten; Marjanovic, Dragan

2013-01-28

Cerebrotendinous xanthomatosis (CTX) is a rare, but treatable lipid storage disorder caused by mutation in the CYP27A1 gene. The disorder results in deposition of cholestanol in various tissues. The classical CTX phenotype includes diarrhoea, juvenile cataract, xanthoma and progressive neurological symptoms. Studies have shown that progression of symptoms can be halted or even reversed, if treatment with chenodeoxycholic acid is initiated early. The diagnosis of CTX is often delayed due to lack of awareness of the disease. We describe the history, clinical features, biochemical, genetic and magnetic resonance imaging findings of the first reported case of CTX in Denmark.

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

PubMed

Colombi, M; Dordoni, C; Venturini, M; Ciaccio, C; Morlino, S; Chiarelli, N; Zanca, A; Calzavara-Pinton, P; Zoppi, N; Castori, M; Ritelli, M

2017-12-01

Classical Ehlers-Danlos syndrome (cEDS) is characterized by marked cutaneous involvement, according to the Villefranche nosology and its 2017 revision. However, the diagnostic flow-chart that prompts molecular testing is still based on experts' opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosal, facial, and articular manifestations. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age. In our cohort, we did not observe any mandatory clinical sign. Skin hyperextensibility plus atrophic scars was the most frequent combination, whereas generalized joint hypermobility according to the Beighton score decreased with age. Skin was more commonly hyperextensible on elbows, neck, and knees. The sites more frequently affected by abnormal atrophic scarring were knees, face (especially forehead), pretibial area, and elbows. Facial dysmorphism commonly affected midface/orbital areas with epicanthal folds and infraorbital creases more commonly observed in young patients. Our findings suggest that the combination of ≥1 eye dysmorphism and facial/forehead scars may support the diagnosis in children. Minor acquired traits, such as molluscoid pseudotumors, subcutaneous spheroids, and signs of premature skin aging are equally useful in adults. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

[Exploration on method and strategy of Gegen decoction from its novel application in primary dysmenorrhea].

PubMed

Chai, Cheng-Zhi; Yu, Bo-Yang

2018-06-01

Many classical prescriptions still have superior clinical values nowadays, and their modern studies also have far-reaching scientific research demonstration values. Gegen decoction, a representative prescription for common cold due to wind-cold, can treat primary dysmenorrhea due to cold and dampness, characterized by continuous administration without recurrence. It is not only in accordance with the principle of homotherapy for heteropathy, but also demonstrates the unique feature of traditional Chinese medicine of relieving the primary and secondary symptoms simultaneously. This article aimed to discuss the method and strategy of Gegen decoction study based on the discovery of its novel application in treatment of primary dysmenorrhea and previous research progress of our group. It was assumed that modern medicine and biology studies, as well as chemical research based on biological activity should be used for reference. Principal active ingredients (groups) in Gegen decoction could be accurately and effectively identified, and its possible mechanism in treatment of primary dysmenorrhea could be eventually elucidated as well. Simultaneously, the theoretical and clinical advantages of traditional Chinese medicine were explored in this paper, focusing on the compatibility characteristics of Gegen decoction. The research hypothesis showed the necessity of following the characteristics and advantages of traditional Chinese medicine in the modern research and reflected the importance of basic research based on the clinical efficacy, expecting to provide some ideas and methods for reference for further modern studies of classical prescriptions. Copyright© by the Chinese Pharmaceutical Association.

Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype

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

Proud, V.K.; Mussell, H.G.; Percy, A.K.

1996-10-02

To delineate further the clinical spectrum of Menkes disease, an X-linked recessive disorder of copper transport, we studied 4 related males, ranging in age from 4-38 years, with a unique phenotype that combines manifestations of classical and mild Menkes disease and occipital horn syndrome (OHS). The propositus, an 18-year-old man, was evaluated following an intracerebral hemorrhage at age 15 years and was noted to have marked hypotonia, motor delay with mental retardation, bladder diverticula, failure to thrive, and diarrhea from infancy; seizures from age 3 years; and abnormal hair (pili torti) and face, cutis laxa, and multiple joint dislocations. Radiographicmore » abnormalities included occipital exostoses, tortuous cerebral blood vessels with multiple branch occlusions, and hammer-shaped clavicles. Biochemical studies demonstrated reduced copper and ceruloplasmin levels in serum, and abnormal plasma catecholamine ratios. We reported previously the molecular defect in this family, a splice-site mutation that predicts formation of approximately 20% of the normal Menkes gene product. Here, we detail the clinical course and physical features and radiographic findings in these 4 individuals, and compare their phenotype with classical and mild Menkes and OHS. Unusual Menkes disease variants such as this may escape recognition due to anomalies that appear inconsistent with the diagnosis, particularly prolonged survival and later onset of seizures. Males with mental retardation and connective tissue abnormalities should be evaluated for biochemical evidence of defective copper transport. 28 refs., 8 figs.« less

Adiposity Indexes as Phenotype-Specific Markers of Preclinical Metabolic Alterations and Cardiovascular Risk in Polycystic Ovary Syndrome: A Cross-Sectional Study.

PubMed

Mario, Fernanda Missio; Graff, Scheila Karen; Spritzer, Poli Mara

2017-05-01

Polycystic ovary syndrome (PCOS) is a common condition in women of reproductive age. 2 PCOS phenotypes (classic and ovulatory) are currently recognized as the most prevalent, with important differences in terms of cardiometabolic features. We studied the performance of different adiposity indexes to predict preclinical metabolic alterations and cardiovascular risk in 234 women with PCOS (173 with classic and 61 with ovulatory PCOS) and 129 controls. Performance of waist circumference, waist-to-height ratio, conicity index, lipid accumulation product, and visceral adiposity index was assessed based on HOMA-IR ≥ 3.8 as reference standard for screening preclinical metabolic alterations and cardiovascular risk factors in each group. Lipid accumulation product had the best accuracy for classic PCOS, and visceral adiposity index had the best accuracy for ovulatory PCOS. By applying the cutoff point of lipid accumulation product<34, we identified a subgroup of patients without cardiometabolic alterations (P<0.05) in the group with classic PCOS, a population at higher risk for hypertension, dyslipidemia, and impaired glucose tolerance. In ovulatory PCOS, visceral adiposity index ≥ 1.32 was capable of detecting women with significantly higher blood pressure and less favorable glycemic and lipid variables as compared to ovulatory PCOS with lower visceral adiposity index (P<0.05). These results suggest LAP ≥ 34 as the best marker for classic PCOS, and VAI ≥ 1.32 for ovulatory PCOS women. Both indexes can be easily calculated with measures obtained in routine clinical practice and may be useful to detect cardiometabolic risk and secure early interventions. © Georg Thieme Verlag KG Stuttgart · New York.

Lean muscle mass in classic or ovulatory PCOS: association with central obesity and insulin resistance.

PubMed

Mario, F M; do Amarante, F; Toscani, M K; Spritzer, P M

2012-10-01

This age-matched case-control study assessed total and segmental lean muscle mass in classic or ovulatory polycystic ovary syndrome (PCOS) patients and investigated whether lean mass is associated with hormone and metabolic features. Participants underwent anthropometric and clinical evaluation. Habitual physical activity was assessed with a digital pedometer, and body composition by dual-energy X-ray absorptiometry. Laboratory measurements included total cholesterol, cholesterol fractions, triglycerides, glucose, total serum testosterone, serum insulin, estradiol, luteinizing hormone, and SHBG. Energy intake was calculated using a food frequency questionnaire. Classic PCOS patients had higher body mass index (BMI), waist circumference, testosterone and lipid accumulation product values than ovulatory PCOS and controls. Energy consumption, homeostasis model assessment index, SHBG, free androgen index and triglycerides, total and trunk lean mass were higher only in classic PCOS women vs. controls. Arm, leg, trunk, total or limb lean masses were not correlated with hormone levels in any of the groups. However, in PCOS women lipid accumulation product was positively correlated with total (r=0.56, p=0.001), trunk (r=0.59, p=0.001), arm (r=0.54, p=0.001), leg (r=0.44, p=0.03) and limb (r=0.48, p=0.001) lean masses. BMI was positively correlated with all lean mass segments and independently associated with total lean mass. Lipid accumulation product and BMI were independently associated with trunk lean mass variation. The increase in lean mass in classic PCOS appears to be associated with insulin resistance and central obesity rather than with energy intake, physical activity or androgens. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

[Clinical feature of chronic compressive optic neuropathy without optic atrophy].

PubMed

Jiang, Libin; Shi, Jitong; Liu, Wendong; Kang, Jun; Wang, Ningli

2014-12-01

To investigate the clinical feature of the chronic compressive optic neuropathy without optic atrophy. Retrospective cases series study. The clinical data of 25 patients (37 eyes) with chronic compressive optic neuropathy without optic atrophy, treated in Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, from October, 2005 to March, 2014, were collected. Those patients had been showing visual symptoms for 6 months or longer, but missed diagnosed or misdiagnosed as other eye diseases due to their normal or slightly changed fundi. The collected data including visual acuities, visual fields, neuroimaging and/or pathologic diagnosis were analyzed. Among the 25 patients, there were 5 males and 20 females, and their ages range from 9 to 74 years [average (47.5 ± 13.4) years]. All patients suffered progressive impaired vision in single eye or both eyes, without exophthalmos or abnormal eye movements. Except one patient had a headache, other patients did not show systemic symptoms. The corrected visual acuities were between HM to 1.0, and their appearances of optic discs and colors of fundi were normal. After neuroimaging and/or pathological examination, it was proven that 14 patients suffered tuberculum sellae meningiomas, 5 patients with hypophysoma, 3 patient with optic nerve sheath meningioma in orbital apex, 1 patient with cavernous hemangioma, 1 patient with vascular malformation in orbital apex and 1 patient with optic nerve glioma. Among the 19 patients whose suffered occupied lesions of saddle area, 14 patients underwent visual field examinations, and only 4 patients showed classic visual field defects caused by optic chiasmal lesions. Occult progressive visual loss was the most important clinical feature of the disease.

Disordered Self in the Schizophrenia Spectrum: A Clinical and Research Perspective

PubMed Central

Parnas, Josef; Henriksen, Mads Gram

2014-01-01

Learning Objectives After participating in this activity, learners should be better able to: 1. Assess anomalous self-experience as a core feature of schizophrenia spectrum disorders. 2. Evaluate current and historical research regarding disorders of self-experience in schizophrenia. Abstract This article explores the phenomenological and empirical rediscovery of anomalous self-experience as a core feature of the schizophrenia spectrum disorders and presents the current status of research in this field. Historically, a disordered self was considered to be a constitutive phenotype of schizophrenia. Although the notion of a disordered self has continued to appear occasionally over the years—mainly in the phenomenologically or psychodynamically oriented literature—this notion was usually considered as a theoretical construct rather than as referring to concretely lived anomalous experiences. Empirical research on the disorders of self-experience in schizophrenia can be traced back to the US-Denmark psychopathological collaboration in the well-known adoption and high-risk studies, which aimed at identifying trait or phenotypic vulnerability features. This research was later followed by clinical work with first-admission schizophrenia patients. We offer clinical descriptions of anomalous self-experience and outline the phenomenological structures of subjectivity that are needed for grasping the nature of these anomalous experiential phenomena. What appears to underlie these experiences is an instability of the first-person perspective that threatens the basic experience of being a self-coinciding, embodied, demarcated, and persisting subject of awareness. We summarize a series of empirical studies targeting self-experience in schizophrenia performed prior to and after the construction of a phenomenologically oriented psychometric instrument for assessing anomalies of self-experience, the Examination of Anomalous Self-Experience (EASE). These empirical studies support the classic clinical intuition that anomalous self-experiences form a central phenotype of schizophrenia. Implications for diagnosis and research are briefly discussed. PMID:25126763

Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases

PubMed Central

Savic, Sinisa; Mistry, Anoop; Wilson, Anthony G; Barcenas-Morales, Gabriela; Doffinger, Rainer; Emery, Paul; McGonagle, Dennis

2017-01-01

At the population level, rheumatoid arthritis (RA) is generally viewed as autoimmune in nature with a small subgroup of cases having a palindromic form or systemic autoinflammatory disorder (SAID) phenotype. Herein, we describe resistant cases of classical autoantibody associated RA that had clinical, genetic and therapeutic responses indicative of coexistent autoinflammatory disease. Five patients with clinically overlapping features between RA and SAID including polysynovitis and autoantibody/shared epitope positivity, and who had abrupt severe self-limiting attacks including fevers and serositis, are described. Mutations or single nucleotide polymorphisms in recognised autoinflammatory pathways were evident. Generally, these cases responded poorly to conventional Disease-modifying anti-rheumatic drugs (DMARD) treatment with some excellent responses to colchicine or interleukin 1 pathway blockade. A subgroup of RA cases have a mixed autoimmune-autoinflammatory phenotype and genotype with therapeutic implications. PMID:29177082

Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases.

PubMed

Savic, Sinisa; Mistry, Anoop; Wilson, Anthony G; Barcenas-Morales, Gabriela; Doffinger, Rainer; Emery, Paul; McGonagle, Dennis

2017-01-01

At the population level, rheumatoid arthritis (RA) is generally viewed as autoimmune in nature with a small subgroup of cases having a palindromic form or systemic autoinflammatory disorder (SAID) phenotype. Herein, we describe resistant cases of classical autoantibody associated RA that had clinical, genetic and therapeutic responses indicative of coexistent autoinflammatory disease. Five patients with clinically overlapping features between RA and SAID including polysynovitis and autoantibody/shared epitope positivity, and who had abrupt severe self-limiting attacks including fevers and serositis, are described. Mutations or single nucleotide polymorphisms in recognised autoinflammatory pathways were evident. Generally, these cases responded poorly to conventional Disease-modifying anti-rheumatic drugs (DMARD) treatment with some excellent responses to colchicine or interleukin 1 pathway blockade. A subgroup of RA cases have a mixed autoimmune-autoinflammatory phenotype and genotype with therapeutic implications.

An unusual presentation of eosinophilic angiocentric fibrosis.

PubMed

Hardman, Joel; Toon, Christopher; Nirmalananda, Arjuna

2017-12-01

Eosinophilic angiocentric fibrosis (EAF) is a rare, benign condition affecting the respiratory mucosa and is generally characterized by a locally destructive growth. We present a case of a lady with a saddle nose deformity that had for many years been treated as granulomatosis with polyangiitis (GPA), of which saddle nose deformity is a classic feature. At the time of surgery, she was found to have subglottic stenosis another classic feature of GPA, however, histology demonstrated EAF. We discuss the difference between the two conditions and highlight the importance of making the correct diagnosis.

Classic hallucinogens in the treatment of addictions.

PubMed

Bogenschutz, Michael P; Johnson, Matthew W

2016-01-04

Addictive disorders are very common and have devastating individual and social consequences. Currently available treatment is moderately effective at best. After many years of neglect, there is renewed interest in potential clinical uses for classic hallucinogens in the treatment of addictions and other behavioral health conditions. In this paper we provide a comprehensive review of both historical and recent clinical research on the use of classic hallucinogens in the treatment of addiction, selectively review other relevant research concerning hallucinogens, and suggest directions for future research. Clinical trial data are very limited except for the use of LSD in the treatment of alcoholism, where a meta-analysis of controlled trials has demonstrated a consistent and clinically significant beneficial effect of high-dose LSD. Recent pilot studies of psilocybin-assisted treatment of nicotine and alcohol dependence had strikingly positive outcomes, but controlled trials will be necessary to evaluate the efficacy of these treatments. Although plausible biological mechanisms have been proposed, currently the strongest evidence is for the role of mystical or other meaningful experiences as mediators of therapeutic effects. Classic hallucinogens have an excellent record of safety in the context of clinical research. Given our limited understanding of the clinically relevant effects of classic hallucinogens, there is a wealth of opportunities for research that could contribute important new knowledge and potentially lead to valuable new treatments for addiction. Copyright © 2015 Elsevier Inc. All rights reserved.

[Discussion on six errors of formulas corresponding to syndromes in using the classic formulas].

PubMed

Bao, Yan-ju; Hua, Bao-jin

2012-12-01

The theory of formulas corresponding to syndromes is one of the characteristics of Treatise on Cold Damage and Miscellaneous Diseases (Shanghan Zabing Lun) and one of the main principles in applying classic prescriptions. It is important to take effect by following the principle of formulas corresponding to syndromes. However, some medical practitioners always feel that the actual clinical effect is far less than expected. Six errors in the use of classic prescriptions as well as the theory of formulas corresponding to syndromes are the most important causes to be considered, i.e. paying attention only to the local syndromes while neglecting the whole, paying attention only to formulas corresponding to syndromes while neglecting the pathogenesis, paying attention only to syndromes while neglecting the pulse diagnosis, paying attention only to unilateral prescription but neglecting the combined prescriptions, paying attention only to classic prescriptions while neglecting the modern formulas, and paying attention only to the formulas but neglecting the drug dosage. Therefore, not only the patients' clinical syndromes, but also the combination of main syndrome and pathogenesis simultaneously is necessary in the clinical applications of classic prescriptions and the theory of prescription corresponding to syndrome. In addition, comprehensive syndrome differentiation, modern formulas, current prescriptions, combined prescriptions, and drug dosage all contribute to avoid clinical errors and improve clinical effects.

A two-dimensional matrix image based feature extraction method for classification of sEMG: A comparative analysis based on SVM, KNN and RBF-NN.

PubMed

Wen, Tingxi; Zhang, Zhongnan; Qiu, Ming; Zeng, Ming; Luo, Weizhen

2017-01-01

The computer mouse is an important human-computer interaction device. But patients with physical finger disability are unable to operate this device. Surface EMG (sEMG) can be monitored by electrodes on the skin surface and is a reflection of the neuromuscular activities. Therefore, we can control limbs auxiliary equipment by utilizing sEMG classification in order to help the physically disabled patients to operate the mouse. To develop a new a method to extract sEMG generated by finger motion and apply novel features to classify sEMG. A window-based data acquisition method was presented to extract signal samples from sEMG electordes. Afterwards, a two-dimensional matrix image based feature extraction method, which differs from the classical methods based on time domain or frequency domain, was employed to transform signal samples to feature maps used for classification. In the experiments, sEMG data samples produced by the index and middle fingers at the click of a mouse button were separately acquired. Then, characteristics of the samples were analyzed to generate a feature map for each sample. Finally, the machine learning classification algorithms (SVM, KNN, RBF-NN) were employed to classify these feature maps on a GPU. The study demonstrated that all classifiers can identify and classify sEMG samples effectively. In particular, the accuracy of the SVM classifier reached up to 100%. The signal separation method is a convenient, efficient and quick method, which can effectively extract the sEMG samples produced by fingers. In addition, unlike the classical methods, the new method enables to extract features by enlarging sample signals' energy appropriately. The classical machine learning classifiers all performed well by using these features.

REVIEW OF CELIAC DISEASE PRESENTATION IN A PEDIATRIC TERTIARY CENTRE.

PubMed

Oliveira, Gracinda Nogueira; Mohan, Rajiv; Fagbemi, Andrew

2018-01-01

Celiac disease is an immune-mediated disorder with a multiform presentation and therefore a challenging diagnosis. Our purpose is to identify the epidemiological, clinical, laboratory and histologic characteristics of children with celiac disease at diagnosis and on follow-up. Children with previously established or newly diagnosed celiac disease, admitted in a tertiary centre in a two-year period (2014-2016) were recruited. Data was collected retrospectively from electronic medical records and clinical notes, and subsequently analysed with SPSS version 20.0. A total of 159 patients, out of 312, were included. Age ranged from 1 to 17 years (mean ± SD: 8.5±4.5 years, 69% girls). Disease presentation was classical in 60%, non-classical in 25%, subclinical in 10% and 5% classified as potential celiac disease. Non-classical and subclinical profiles had a higher mean age at presentation but not statistically significant (P-value 0.24). The most frequent gastrointestinal features at presentation were abdominal pain (58%), diarrhea (43%) and bloating (27%). A positive family history for celiac disease was present in 24% (n=35). We found anaemia in 23%, low ferritin in 63% and a moderate to severe deficiency of 25-hydroxyvitamin D in 62%. celiac disease -specific serologic testing and esophagogastroduodenoscopy were performed in 99%. Histology revealed modified Marsh 2 or 3 enteropathy in 94%, the remaining had normal histology but positive human leukocyte antigen typing. Clinical improvement at 12 months of gluten-free diet was complete in 51% and partial in 49%. IgA tTG normalized after 12-30 months of gluten-free diet in 45%. On growth assessment at diagnosis and after 12-28 months of gluten-free diet, 100% had height increase (mean ±SD: 7.11±4.43 cm) and 96% weight gain (mean ±SD: 5.60±4.91 kg). Our findings outline the diverse clinical presentations of pediatric celiac disease that should be considered irrespective of age. Increased clinician's awareness will enable an early diagnosis and treatment, with subsequent symptom and nutritional status improvement.

Prevalence of and markers for the attenuated form of congenital adrenal hyperplasia and hyperprolactinemia masquerading as polycystic ovarian disease.

PubMed

Benjamin, F; Deutsch, S; Saperstein, H; Seltzer, V L

1986-08-01

To determine the prevalence of the attenuated form of congenital adrenal hyperplasia (CAH) and hyperprolactinemia (HPPN) relative to polycystic ovarian disease (PCOD), 100 consecutive women presenting with the classic clinical features of PCOD were evaluated by basal hormonal profiles and subsequent adrenocorticotropic hormone (ACTH) stimulation tests. The study also sought biochemical markers for CAH other than ACTH stimulation. The prevalences were found to be as follows: PCOD, 65%; PCOD with HPPN, 9%; HPPN, 3%, end-organ hypersensitivity (EOH), 4%; homozygotic CAH, 4%; and heterozygotic CAH, 15%. Other than the differential response to ACTH, the only other biochemical markers observed for homozygotic CAH were significantly higher basal levels of testosterone (T) and 17 alpha-hydroxyprogesterone (17-OHP). Luteinizing hormone/follicle-stimulating hormone ratio, androstenedione, and dehydroepiandrosterone sulfate all showed no significant differences between homozygotic CAH, heterozygotic CAH, HPPN, PCOD, and EOH. This study establishes the relative prevalences of the syndromes commonly mimicking PCOD. We also conclude that the observed low incidence of CAH does not justify routine ACTH testing on all patients presenting with features of PCOD--however, our data suggest that patients with basal serum levels of T and 17-OHP greater than 50% above the upper limit of normal should undergo this dynamic test, especially if there are also certain clinical features suggestive of CAH.

Do event horizons exist?

NASA Astrophysics Data System (ADS)

Baccetti, Valentina; Mann, Robert B.; Terno, Daniel R.

Event horizons are the defining feature of classical black holes. They are the key ingredient of the information loss paradox which, as paradoxes in quantum foundations, is built on a combination of predictions of quantum theory and counterfactual classical features: neither horizon formation nor its crossing by a test body can be detected by a distant observer. Furthermore, horizons are unnecessary for the production of Hawking-like radiation. We demonstrate that when this radiation is taken into account, it can prevent horizon crossing/formation in a large class of models. We conjecture that horizon avoidance is a general feature of collapse. The nonexistence of event horizons dispels the paradox, but opens up important questions about thermodynamic properties of the resulting objects and correlations between different degrees of freedom.

EEG resolutions in detecting and decoding finger movements from spectral analysis

PubMed Central

Xiao, Ran; Ding, Lei

2015-01-01

Mu/beta rhythms are well-studied brain activities that originate from sensorimotor cortices. These rhythms reveal spectral changes in alpha and beta bands induced by movements of different body parts, e.g., hands and limbs, in electroencephalography (EEG) signals. However, less can be revealed in them about movements of different fine body parts that activate adjacent brain regions, such as individual fingers from one hand. Several studies have reported spatial and temporal couplings of rhythmic activities at different frequency bands, suggesting the existence of well-defined spectral structures across multiple frequency bands. In the present study, spectral principal component analysis (PCA) was applied on EEG data, obtained from a finger movement task, to identify cross-frequency spectral structures. Features from identified spectral structures were examined in their spatial patterns, cross-condition pattern changes, detection capability of finger movements from resting, and decoding performance of individual finger movements in comparison to classic mu/beta rhythms. These new features reveal some similar, but more different spatial and spectral patterns as compared with classic mu/beta rhythms. Decoding results further indicate that these new features (91%) can detect finger movements much better than classic mu/beta rhythms (75.6%). More importantly, these new features reveal discriminative information about movements of different fingers (fine body-part movements), which is not available in classic mu/beta rhythms. The capability in decoding fingers (and hand gestures in the future) from EEG will contribute significantly to the development of non-invasive BCI and neuroprosthesis with intuitive and flexible controls. PMID:26388720

Klippel-Feil syndrome associated with atrial septal defect.

PubMed

Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Zeka, Naim; Maloku, Arlinda; Berisha, Majlinda

2013-01-01

Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. The etiology of Klippel-Feil syndrome and its associated conditions is unknown. The syndrome can present with a variety of other clinical syndromes, including fetal alcohol syndrome, Goldenhar syndrome, anomalies of the extremities etc. Associated anomalies occur in the auditory system, neural axis, cardiovascular system, and the musculoskeletal system. Cardiovascular anomalies, mainly septal defects, were found in 7 patients in Hensinger's series, with 4 of these individuals requiring corrective surgery. In our case we have had registered a nonrestrictive atrial septal defect and corrective surgical intervention at age 18 months in the Santa Rosa Children's Hospital (USA) has been done successfully. Careful examinations of specialist exclude anomalies in other organs and systems. Radiographs and MRI of the thoracic and lumbosacral spine are obtained and other anomalies have been excluded.

Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls.

PubMed

Rodolico, Carmelo; Parisi, Daniela; Portaro, Simona; Biasini, Fiammetta; Sinicropi, Stefano; Ciranni, Annamaria; Toscano, Antonio; Messina, Sonia; Musumeci, Olimpia; Vita, Giuseppe; Girlanda, Paolo

2016-08-30

Myasthenia gravis (MG) is an autoimmune disorder presenting with fluctuating, fatigable muscle weakness. Initial symptoms classically involve ocular and proximal limb muscles. Rarely, MG may onset with unusual features, so it can be misdiagnosed with other neuromuscular diseases. To describe unusual and atypical presentations of MG in a large cohort of patients, considering and discussing diagnostic difficulties and pitfalls. We report on 21 out of 508 MG patients, coming to our department in the last 27 years and presenting with atypical or unusual features. The diagnosis was achieved performing a careful clinical examination, a proper neurophysiological assessment, the neostigmine test, the AChR and MuSK antibodies assay and chest CT-scan. Patients with atypical/unusual MG onset were the 4.4% of all MG patients population. We describe seven different clinical categories: asymmetric distal upper limbs weakness, foot drop, isolated triceps brachii weakness and foot drop, post exertional axial weakness with dropped head, acute facial dyplegia, limb-girdle MG and MG with sudden lower limbs weakness and recurrent falls. Atypical and unusual presentations may increase the risk to misdiagnose or delay MG diagnosis. Isolated limb-girdle presentation is the most frequent atypical form in our series.

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.

PubMed

Cheng, Yu-Wei; Tan, Christopher A; Minor, Agata; Arndt, Kelly; Wysinger, Latrice; Grange, Dorothy K; Kozel, Beth A; Robin, Nathaniel H; Waggoner, Darrel; Fitzpatrick, Carrie; Das, Soma; Del Gaudio, Daniela

2014-03-01

Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder characterized by growth retardation, intellectual disability, upper limb abnormalities, hirsutism, and characteristic facial features. In this study we explored the occurrence of intragenic NIPBL copy number variations (CNVs) in a cohort of 510 NIPBL sequence-negative patients with suspected CdLS. Copy number analysis was performed by custom exon-targeted oligonucleotide array-comparative genomic hybridization and/or MLPA. Whole-genome SNP array was used to further characterize rearrangements extending beyond the NIPBL gene. We identified NIPBL CNVs in 13 patients (2.5%) including one intragenic duplication and a deletion in mosaic state. Breakpoint sequences in two patients provided further evidence of a microhomology-mediated replicative mechanism as a potential predominant contributor to CNVs in NIPBL. Patients for whom clinical information was available share classical CdLS features including craniofacial and limb defects. Our experience in studying the frequency of NIBPL CNVs in the largest series of patients to date widens the mutational spectrum of NIPBL and emphasizes the clinical utility of performing NIPBL deletion/duplication analysis in patients with CdLS.

Measurement incompatibility and Schrödinger-Einstein-Podolsky-Rosen steering in a class of probabilistic theories

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

Banik, Manik, E-mail: manik11ju@gmail.com

Steering is one of the most counter intuitive non-classical features of bipartite quantum system, first noticed by Schrödinger at the early days of quantum theory. On the other hand, measurement incompatibility is another non-classical feature of quantum theory, initially pointed out by Bohr. Recently, Quintino et al. [Phys. Rev. Lett. 113, 160402 (2014)] and Uola et al. [Phys. Rev. Lett. 113, 160403 (2014)] have investigated the relation between these two distinct non-classical features. They have shown that a set of measurements is not jointly measurable (i.e., incompatible) if and only if they can be used for demonstrating Schrödinger-Einstein-Podolsky-Rosen steering. Themore » concept of steering has been generalized for more general abstract tensor product theories rather than just Hilbert space quantum mechanics. In this article, we discuss that the notion of measurement incompatibility can be extended for general probability theories. Further, we show that the connection between steering and measurement incompatibility holds in a border class of tensor product theories rather than just quantum theory.« less

H-classic: a new method to identify classic articles in Implant Dentistry, Periodontics, and Oral Surgery.

PubMed

De la Flor-Martínez, Maria; Galindo-Moreno, Pablo; Sánchez-Fernández, Elena; Piattelli, Adriano; Cobo, Manuel Jesus; Herrera-Viedma, Enrique

2016-10-01

The study of classic papers permits analysis of the past, present, and future of a specific area of knowledge. This type of analysis is becoming more frequent and more sophisticated. Our objective was to use the H-classics method, based on the h-index, to analyze classic papers in Implant Dentistry, Periodontics, and Oral Surgery (ID, P, and OS). First, an electronic search of documents related to ID, P, and OS was conducted in journals indexed in Journal Citation Reports (JCR) 2014 within the category 'Dentistry, Oral Surgery & Medicine'. Second, Web of Knowledge databases were searched using Mesh terms related to ID, P, and OS. Finally, the H-classics method was applied to select the classic articles in these disciplines, collecting data on associated research areas, document type, country, institutions, and authors. Of 267,611 documents related to ID, P, and OS retrieved from JCR journals (2014), 248 were selected as H-classics. They were published in 35 journals between 1953 and 2009, most frequently in the Journal of Clinical Periodontology (18.95%), the Journal of Periodontology (18.54%), International Journal of Oral and Maxillofacial Implants (9.27%), and Clinical Oral Implant Research (6.04%). These classic articles derived from the USA in 49.59% of cases and from Europe in 47.58%, while the most frequent host institution was the University of Gothenburg (17.74%) and the most frequent authors were J. Lindhe (10.48%) and S. Socransky (8.06%). The H-classics approach offers an objective method to identify core knowledge in clinical disciplines such as ID, P, and OS. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Female genital tuberculosis cases with distinct clinical symptoms: Four case reports

PubMed Central

Aslan, Gonul; Ulger, Mahmut; Ulger, Seda Tezcan; Durukan, Huseyin; Yazici, Faik Gurkan; Emekdas, Gurol

2018-01-01

Background: Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis. Genital TB (GTB) is a form of extrapulmonary TB that occurs more frequently in women, in whom it classically presents in association with menstrual irregularity, pregnancy loss and short and long-term sequelae especially infertility in infected women. Patients with GTB are usually young women diagnosed during workup for infertility. GTB is rare in postmenopausal women and responsible for only approximately 1% of postmenopausal bleeding. In this study, we aimed to evaluate the laboratory, clinical and demographic characteristics of female GTB cases. Case: We presented four female GTB cases with distinct clinical symptoms. All patients have no history of TB, and no acid-fast bacilli were seen in smears prepared from the clinical materials of the patients. Histopathological examinations revealed granulomatous inflammation in all patients. Conclusion: In the light of the clinical features of these cases we aimed to emphasize that, female GTB must be taken into account in the patients with different clinical symptoms like postmenopausal bleeding, menometrorrhagia, infertility, and menstrual irregularities. We believe that these symptoms will be helpful for the diagnosis and treatment of female GTB. PMID:29675489

Clinicopathologic, Immunohistochemical, and Molecular Features of Histiocytoid Sweet Syndrome.

PubMed

Alegría-Landa, Victoria; Rodríguez-Pinilla, Socorro María; Santos-Briz, Angel; Rodríguez-Peralto, José Luis; Alegre, Victor; Cerroni, Lorenzo; Kutzner, Heinz; Requena, Luis

2017-07-01

Histiocytoid Sweet syndrome is a rare histopathologic variant of Sweet syndrome. The nature of the histiocytoid infiltrate has generated considerable controversy in the literature. The main goal of this study was to conduct a comprehensive overview of the immunohistochemical phenotype of the infiltrate in histiocytoid Sweet syndrome. We also analyze whether this variant of Sweet syndrome is more frequently associated with hematologic malignancies than classic Sweet syndrome. This is a retrospective case series study of the clinicopathologic, immunohistochemical, and molecular features of 33 patients with a clinicopathologic diagnosis of histiocytoid Sweet syndrome was conducted in the dermatology departments of 5 university hospitals and a private laboratory of dermatopathology. The clinical, histopathological, immunohistochemical, and follow-up features of 33 patients with histiocytoid Sweet syndrome were analyzed. In some cases, cytogenetic studies of the dermal infiltrate were also performed. We compare our findings with those of the literature. The dermal infiltrate from the 33 study patients (20 female; median age, 49 years; age range, 5-93 years; and 13 male; median age, 42 years; age range, 4-76 years) was mainly composed of myeloperoxidase-positive immature myelomonocytic cells with histiocytoid morphology. No cytogenetic anomalies were found in the infiltrate except in 1 case in which neoplastic cells of chronic myelogenous leukemia were intermingled with the cells of histiocytoid Sweet syndrome. Authentic histiocytes were also found in most cases, with a mature immunoprofile, but they appeared to be a minor component of the infiltrate. Histiocytoid Sweet syndrome was not more frequently related with hematologic malignancies than classic neutrophilic Sweet syndrome. The dermal infiltrate of cutaneous lesions of histiocytoid Sweet syndrome is composed mostly of immature cells of myeloid lineage. This infiltrate should not be interpreted as leukemia cutis.

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

PubMed Central

Hoornaert, K P; Dewinter, C; Vereecke, I; Beemer, F A; Courtens, W; Fryer, A; Fryssira, H; Lees, M; Müllner‐Eidenböck, A; Rimoin, D L; Siderius, L; Superti‐Furga, A; Temple, K; Willems, P J; Zankl, A; Zweier, C; De Paepe, A; Coucke, P; Mortier, G R

2006-01-01

Background The majority of COL2A1 missense mutations are substitutions of obligatory glycine residues in the triple helical domain. Only a few non‐glycine missense mutations have been reported and among these, the arginine to cysteine substitutions predominate. Objective To investigate in more detail the phenotype resulting from arginine to cysteine mutations in the COL2A1 gene. Methods The clinical and radiographic phenotype of all patients in whom an arginine to cysteine mutation in the COL2A1 gene was identified in our laboratory, was studied and correlated with the abnormal genotype. The COL2A1 genotyping involved DHPLC analysis with subsequent sequencing of the abnormal fragments. Results Six different mutations (R75C, R365C, R519C, R704C, R789C, R1076C) were found in 11 unrelated probands. Each mutation resulted in a rather constant and site‐specific phenotype, but a perinatally lethal disorder was never observed. Spondyloarthropathy with normal stature and no ocular involvement were features of patients with the R75C, R519C, or R1076C mutation. Short third and/or fourth toes was a distinguishing feature of the R75C mutation and brachydactyly with enlarged finger joints a key feature of the R1076C substitution. Stickler dysplasia with brachydactyly was observed in patients with the R704C mutation. The R365C and R789C mutations resulted in classic Stickler dysplasia and spondyloepiphyseal dysplasia congenita (SEDC), respectively. Conclusions Arginine to cysteine mutations are rather infrequent COL2A1 mutations which cause a spectrum of phenotypes including classic SEDC and Stickler dysplasia, but also some unusual entities that have not yet been recognised and described as type II collagenopathies. PMID:16155195

Patterns of clinical presentation of adult coeliac disease in a rural setting.

PubMed

Jones, Sián; D'Souza, Charles; Haboubi, Nadim Y

2006-09-14

In recent years there has been increasing recognition that the pattern of presentation of coeliac disease may be changing. The classic sprue syndrome with diarrhoea and weight loss may be less common than the more subtle presentations of coeliac disease such as an isolated iron deficiency anaemia. As a result, the diagnosis of this treatable condition is often delayed or missed. Recent serologic screening tests allow non-invasive screening to identify most patients with the disease and can be applied in patients with even subtle symptoms indicative of coeliac disease. Both benign and malignant complications of coeliac disease can be avoided by early diagnosis and a strict compliance with a gluten free diet. The aim of this study is to evaluate the trends in clinical presentation of patients diagnosed with adult coeliac disease. In addition, we studied the biochemical and serological features and the prevalence of associated conditions in patients with adult coeliac disease. This is an observational, retrospective, cross-sectional review of the medical notes of 32 adult patients attending the specialist coeliac clinic in a district general hospital. Anaemia was the most common mode of presentation accounting for 66% of patients. Less than half of the patients had any of the classical symptoms of coeliac disease and 25% had none of the classical symptoms at presentation. Anti-gliadin antibodies, anti-endomysial antibody and anti-tissue transglutaminase showed 75%, 68% and 90% sensitivity respectively. In combination, serology results were 100% sensitive as screening tests for adult coeliac disease. Fifty nine percent patients had either osteoporosis or osteopenia. There were no malignant complications observed during the follow up of our patients. Most adults with coeliac disease have a sub clinical form of the disease and iron deficiency anaemia may be its sole presenting symptom. Only a minority of adult coeliac disease patients present with classical mal-absorption symptoms of diarrhoea and weight loss. Patients with atypical form of disease often present initially to hospital specialists other than a gastro-enterologist. An awareness of the broad spectrum of presentations of adult coeliac disease, among doctors both in primary care and by the various hospital specialists in secondary care, is necessary to avoid delays in diagnosis. It is important to include serological screening tests for coeliac disease systematically in the evaluation of adult patients with unexplained iron deficiency anaemia or unexplained gastro-intestinal symptoms and in those who are considered to be at increased risk for coeliac disease.

The myositis autoantibody phenotypes of the juvenile idiopathic inflammatory myopathies.

PubMed

Rider, Lisa G; Shah, Mona; Mamyrova, Gulnara; Huber, Adam M; Rice, Madeline Murguia; Targoff, Ira N; Miller, Frederick W

2013-07-01

The juvenile idiopathic inflammatory myopathies (JIIM) are systemic autoimmune diseases characterized by skeletal muscle weakness, characteristic rashes, and other systemic features. In follow-up to our study defining the major clinical subgroup phenotypes of JIIM, we compared demographics, clinical features, laboratory measures, and outcomes among myositis-specific autoantibody (MSA) subgroups, as well as with published data on adult idiopathic inflammatory myopathy patients enrolled in a separate natural history study. In the present study, of 430 patients enrolled in a nationwide registry study who had serum tested for myositis autoantibodies, 374 had either a single specific MSA (n = 253) or no identified MSA (n = 121) and were the subject of the present report. Following univariate analysis, we used random forest classification and exact logistic regression modeling to compare autoantibody subgroups. Anti-p155/140 autoantibodies were the most frequent subgroup, present in 32% of patients with juvenile dermatomyositis (JDM) or overlap myositis with JDM, followed by anti-MJ autoantibodies, which were seen in 20% of JIIM patients, primarily in JDM. Other MSAs, including anti-synthetase, anti-signal recognition particle (SRP), and anti-Mi-2, were present in only 10% of JIIM patients. Features that characterized the anti-p155/140 autoantibody subgroup included Gottron papules, malar rash, "shawl-sign" rash, photosensitivity, cuticular overgrowth, lowest creatine kinase (CK) levels, and a predominantly chronic illness course. The features that differed for patients with anti-MJ antibodies included muscle cramps, dysphonia, intermediate CK levels, a high frequency of hospitalization, and a monocyclic disease course. Patients with anti-synthetase antibodies had higher frequencies of interstitial lung disease, arthralgia, and "mechanic's hands," and had an older age at diagnosis. The anti-SRP group, which had exclusively juvenile polymyositis, was characterized by high frequencies of black race, severe onset, distal weakness, falling episodes, Raynaud phenomenon, cardiac involvement, high CK levels, chronic disease course, frequent hospitalization, and wheelchair use. Characteristic features of the anti-Mi-2 subgroup included Hispanic ethnicity, classic dermatomyositis and malar rashes, high CK levels, and very low mortality. Finally, the most common features of patients without any currently defined MSA or myositis-associated autoantibodies included linear extensor erythema, arthralgia, and a monocyclic disease course. Several demographic and clinical features were shared between juvenile and adult idiopathic inflammatory myopathy subgroups, but with several important differences. We conclude that juvenile myositis is a heterogeneous group of illnesses with distinct autoantibody phenotypes defined by varying clinical and demographic characteristics, laboratory features, and outcomes.

The Myositis Autoantibody Phenotypes of the Juvenile Idiopathic Inflammatory Myopathies

PubMed Central

Shah, Mona; Mamyrova, Gulnara; Huber, Adam M.; Rice, Madeline Murguia; Targoff, Ira N.; Miller, Frederick W.

2013-01-01

Abstract The juvenile idiopathic inflammatory myopathies (JIIM) are systemic autoimmune diseases characterized by skeletal muscle weakness, characteristic rashes, and other systemic features. In follow-up to our study defining the major clinical subgroup phenotypes of JIIM, we compared demographics, clinical features, laboratory measures, and outcomes among myositis-specific autoantibody (MSA) subgroups, as well as with published data on adult idiopathic inflammatory myopathy patients enrolled in a separate natural history study. In the present study, of 430 patients enrolled in a nationwide registry study who had serum tested for myositis autoantibodies, 374 had either a single specific MSA (n = 253) or no identified MSA (n = 121) and were the subject of the present report. Following univariate analysis, we used random forest classification and exact logistic regression modeling to compare autoantibody subgroups. Anti-p155/140 autoantibodies were the most frequent subgroup, present in 32% of patients with juvenile dermatomyositis (JDM) or overlap myositis with JDM, followed by anti-MJ autoantibodies, which were seen in 20% of JIIM patients, primarily in JDM. Other MSAs, including anti-synthetase, anti-signal recognition particle (SRP), and anti-Mi-2, were present in only 10% of JIIM patients. Features that characterized the anti-p155/140 autoantibody subgroup included Gottron papules, malar rash, “shawl-sign” rash, photosensitivity, cuticular overgrowth, lowest creatine kinase (CK) levels, and a predominantly chronic illness course. The features that differed for patients with anti-MJ antibodies included muscle cramps, dysphonia, intermediate CK levels, a high frequency of hospitalization, and a monocyclic disease course. Patients with anti-synthetase antibodies had higher frequencies of interstitial lung disease, arthralgia, and “mechanic’s hands,” and had an older age at diagnosis. The anti-SRP group, which had exclusively juvenile polymyositis, was characterized by high frequencies of black race, severe onset, distal weakness, falling episodes, Raynaud phenomenon, cardiac involvement, high CK levels, chronic disease course, frequent hospitalization, and wheelchair use. Characteristic features of the anti-Mi-2 subgroup included Hispanic ethnicity, classic dermatomyositis and malar rashes, high CK levels, and very low mortality. Finally, the most common features of patients without any currently defined MSA or myositis-associated autoantibodies included linear extensor erythema, arthralgia, and a monocyclic disease course. Several demographic and clinical features were shared between juvenile and adult idiopathic inflammatory myopathy subgroups, but with several important differences. We conclude that juvenile myositis is a heterogeneous group of illnesses with distinct autoantibody phenotypes defined by varying clinical and demographic characteristics, laboratory features, and outcomes. PMID:23877355

Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.

PubMed

Öcal, Gönül; Berberoğlu, Merih; Sıklar, Zeynep; Aycan, Zehra; Hacıhamdioglu, Bülent; Savas Erdeve, Şenay; Çamtosun, Emine; Kocaay, Pınar; Ruhi, Hatice I; Kılıç, Birim G; Tukun, Ajlan

2015-02-01

The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient cohort. The evaluation criteria and clinical findings of 95 46,XX patients were described by clinical presentation, gonadal morphology, genital anatomy, associated dysmorphic features, presence during prenatal period with/without postnatal virilization, hormonal characteristics, and presence or absence of steroidogenic defects among 319 patients with DSD. Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian development (6.3%): (1 patient had gonadal dysgenesis with virilization at birth with bilateral streak gonad, 4 patients had complete gonadal dysgenesis, and 1 patient had ovotesticular DSD) and 7 had other 46,XX DSD. Two sisters, who had 46,XX complete gonadal dysgenesis,were diagnosed with Perrault Syndrome with ovarian failure due to streak gonads and associated with sensorineural deafness. 46,XX DSD are usually derived from intrauterine virilization and CAH is the most common cause of 46,XX DSD due to fetal androgen exposure. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Recurrent seminomas: Clinical features and biologic implications

PubMed Central

Som, Avik; Zhu, Rui; Guo, Charles C.; Efstathiou, Eleni; Xiao, Li; Pisters, Louis L.; Matin, Angabin; Tu, Shi-Ming

2013-01-01

Objectives Certain patients with seminoma and clinically atypical phenotypes—visceral metastases, elevated levels of βhuman chorionic gonadotropin (βHCG), and/or recurrent disease— have a poor prognosis. The primary goal of this pilot study was to characterize the clinical characteristics and treatment profile of these rare patients. We also wished to test whether these tumors expressed any specific biomarkers that might distinguish them as a unique subtype of seminoma. Materials and methods We retrospectively identified 25 patients with a history of seminoma plus visceral metastases, βHCG levels >200 mU/ml, and/or recurrent disease. We reviewed these patients’ histories for treatment efficacy and clinical outcome. Tissue samples were available from 6 of those patients, and we studied them for expression of the markers OCT 3/4, PLAP, CD30, TRA-1-60, c-kit, and gp200. We compared our results with the expression of those markers in tissue samples from mixed seminoma/embryonal carcinomas and classic seminomas. Results Our analysis suggested that certain chemotherapeutic regimens (such as ifosfamide, paclitaxel, and cisplatin) are efficacious for the treatment of patients with these atypical seminomas. Further, specimens from the atypical seminomas generally had staining profiles that resembled those of classic seminomas and the seminoma components in mixed germ-cell tumors, but the profiles differed from those of the embryonal carcinoma components in the same mixed germ-cell tumors. Conclusions Although these atypical seminomas tend to be resistant to chemotherapy, they may still respond to certain chemotherapeutic regimens. Our pilot immunohistochemical study also suggested that the unique phenotypes associated with these atypical seminomas do not result from any relationship with embryonal carcinomas. More study is needed to confirm these initial findings. PMID:20822932

4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization.

PubMed

Piccione, Maria; Salzano, Emanuela; Vecchio, Davide; Ferrara, Dante; Malacarne, Michela; Pierluigi, Mauro; Ferrara, Ines; Corsello, Giovanni

2015-07-01

Microscopically chromosome rearrangements of the short arm of chromosome 4 include the two known clinical entities: partial trisomy 4p and deletions of the Wolf-Hirschhorn critical regions 1 and 2 (WHSCR-1 and WHSCR-2, respectively), which cause cranio-facial anomalies, congenital malformations and developmental delay/intellectual disability. We report on clinical findings detected in a Chinese patient with a de novo 4p16.1-p15.32 duplication in association with a subtle 4p terminal deletion of 6 Mb in size. This unusual chromosome imbalance resulted in WHS classical phenotype, while clinical manifestations of 4p trisomy were practically absent. This observation suggests the hypothesis that haploinsufficiency of sensitive dosage genes with regulatory function placed in WHS critical region, is more pathogenic than concomitant 4p duplicated segment. Additionally clinical findings in our patient confirm a variable penetrance of major malformations and neurological features in Chinese children despite of WHS critical region's deletion. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

A case of infantile osteopetrosis: The radioclinical features with literature update.

PubMed

El-Sobky, Tamer Ahmed; Elsobky, Ezzat; Sadek, Ismaiel; Elsayed, Solaf M; Khattab, Mohamed Fawzy

2016-06-01

Osteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling. Infantile autosomal recessive osteopetrosis is one of three subtypes of osteopetrosis and the most severe form. The correct and early diagnosis of infantile osteopetrosis is important for management of complications and for future genetic counselling. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable. Therefore, in this case study the classical clinical and radiological signs of a boy with infantile osteopetrosis will be presented with a comprehensive literature update. The differentiating signs from other causes of hereditary osteosclerosing dysplasias are discussed. This case study and review of available literature show that there tends to be a highly unique clinical and skeletal radiographic pattern of affection in infantile osteopetrosis. Although tremendous advances have been made in the elucidation of the genetic defect of osteopetrosis over the past years, the role of accurate clinical and radiological assessment remains an important contributor to the diagnosis of infantile osteopetrosis.

Kindler syndrome.

PubMed

Kaviarasan, P K; Prasad, P V S; Shradda; Viswanathan, P

2005-01-01

Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

Neo-classical theory of competition or Adam Smith's hand as mathematized ideology

NASA Astrophysics Data System (ADS)

McCauley, Joseph L.

2001-10-01

Orthodox economic theory (utility maximization, rational agents, efficient markets in equilibrium) is based on arbitrarily postulated, nonempiric notions. The disagreement between economic reality and a key feature of neo-classical economic theory was criticized empirically by Osborne. I show that the orthodox theory is internally self-inconsistent for the very reason suggested by Osborne: lack of invertibility of demand and supply as functions of price to obtain price as functions of supply and demand. The reason for the noninvertibililty arises from nonintegrable excess demand dynamics, a feature of their theory completely ignored by economists.

The sound of music: differentiating musicians using a fast, musical multi-feature mismatch negativity paradigm.

PubMed

Vuust, Peter; Brattico, Elvira; Seppänen, Miia; Näätänen, Risto; Tervaniemi, Mari

2012-06-01

Musicians' skills in auditory processing depend highly on instrument, performance practice, and on level of expertise. Yet, it is not known though whether the style/genre of music might shape auditory processing in the brains of musicians. Here, we aimed at tackling the role of musical style/genre on modulating neural and behavioral responses to changes in musical features. Using a novel, fast and musical sounding multi-feature paradigm, we measured the mismatch negativity (MMN), a pre-attentive brain response, to six types of musical feature change in musicians playing three distinct styles of music (classical, jazz, rock/pop) and in non-musicians. Jazz and classical musicians scored higher in the musical aptitude test than band musicians and non-musicians, especially with regards to tonal abilities. These results were extended by the MMN findings: jazz musicians had larger MMN-amplitude than all other experimental groups across the six different sound features, indicating a greater overall sensitivity to auditory outliers. In particular, we found enhanced processing of pith and sliding up to pitches in jazz musicians only. Furthermore, we observed a more frontal MMN to pitch and location compared to the other deviants in jazz musicians and left lateralization of the MMN to timbre in classical musicians. These findings indicate that the characteristics of the style/genre of music played by musicians influence their perceptual skills and the brain processing of sound features embedded in a musical context. Musicians' brain is hence shaped by the type of training, musical style/genre, and listening experiences. Copyright © 2012 Elsevier Ltd. All rights reserved.

Clinical, Pathological, and Surgical Outcomes for Adult Pineoblastomas.

PubMed

Gener, Melissa A; Conger, Andrew R; Van Gompel, Jamie; Ariai, Mohammad S; Jentoft, Mark; Meyer, Fredric B; Cardinal, Jeremy S; Bonnin, José M; Cohen-Gadol, Aaron A

2015-12-01

Pineoblastomas are uncommon primitive neuroectodermal tumors that occur mostly in children; they are exceedingly rare in adults. Few published reports have compared the various aspects of these tumors between adults and children. The authors report a series of 12 pineoblastomas in adults from 2 institutions over 24 years. The clinical, radiologic, and pathologic features and clinical outcomes were compared with previously reported cases in children and adults. Patient age ranged from 24 to 81 years, and all but 1 patient exhibited symptoms of obstructive hydrocephalus. Three patients underwent gross total resection, and subtotal resection was performed in 3 patients. Diagnostic biopsy specimens were obtained in an additional 6 patients. Pathologically, the tumors had the classical morphologic and immunohistochemical features of pineoblastomas. Postoperatively, 10 patients received radiotherapy, and 5 patients received chemotherapy. Compared with previously reported cases, several differences were noted in clinical outcomes. Of the 12 patients, only 5 (42%) died of their disease (average length of survival, 118 months); 5 patients (42%) are alive with no evidence of disease (average length of follow-up, 92 months). One patient died of unrelated causes, and one was lost to follow-up. Patients with subtotal resections or diagnostic biopsies did not suffer a worse prognosis. Of the 9 patients with biopsy or subtotal resection, 4 are alive, 4 died of their disease, and 1 died of an unrelated hemorrhagic cerebral infarction. Although this series is small, the data suggest that pineoblastomas in adults have a less aggressive clinical course than in children. Copyright © 2015 Elsevier Inc. All rights reserved.

Spinal cord infarction: Clinical and imaging insights from the periprocedural setting.

PubMed

Zalewski, Nicholas L; Rabinstein, Alejandro A; Krecke, Karl N; Brown, Robert D; Wijdicks, Eelco F M; Weinshenker, Brian G; Doolittle, Derrick A; Flanagan, Eoin P

2018-05-15

Describe the range of procedures associated with spinal cord infarction (SCI) as a complication of a medical/surgical procedure and define clinical and imaging characteristics that could be applied to help diagnose spontaneous SCI, where the diagnosis is often less secure. We used an institution-based search tool to identify patients evaluated at Mayo Clinic, Rochester, MN from 1997 to 2016 with a periprocedural SCI. We performed a descriptive analysis of clinical features, MRI and other laboratory findings, and outcome. Seventy-five patients were identified with SCI related to an invasive or non-invasive surgery including: aortic aneurysm repair (49%); other aortic surgery (15%); and a variety of other procedures (e.g., cardiac surgery, spinal decompression, epidural injection, angiography, nerve block, embolization, other vascular surgery, thoracic surgery) (36%). Deficits were severe (66% para/quadriplegia) and maximal at first post-procedural evaluation in 61 patients (81%). Impaired dorsal column function was common on initial examination. Imaging features included classic findings of owl eyes or anterior pencil sign on MRI (70%), but several other T2-hyperintensity patterns were also seen. Gadolinium enhancement of the SCI and/or cauda equina was also common when assessed. Six patients (10%) had an initial normal MRI despite a severe deficit. Procedures associated with SCI are many, and this complication does not exclusively occur following aortic surgery. The clinical and radiologic findings that we describe with periprocedural SCI may be used in future studies to help distinguish spontaneous SCI from alternate causes of acute myelopathy. Copyright © 2018 Elsevier B.V. All rights reserved.

World Classics in Kazakh Theater at Early Stage of Development

ERIC Educational Resources Information Center

Sultanova, Zhanagul S.; Yeshmuratova, Anar K.; Nursultan, Yelik; Kabdiyeva, Saniya D.; Zhuasbek, Yerkin T.

2016-01-01

The research work deals with the practices and specific features of Kazakh theater, especially with the specifics of the director's decisions on performances based on European and Russian classical drama. The authors determine that the experienced directors from Russia were invited in order to influence the professional development of Kazakh…

Neuromuscular choristoma: characteristic magnetic resonance imaging findings and association with post-biopsy fibromatosis.

PubMed

Niederhauser, Blake D; Spinner, Robert J; Jentoft, Mark E; Everist, Brian M; Matsumoto, Jane M; Amrami, Kimberly K

2013-04-01

To describe imaging characteristics of neuromuscular choristomas (NMC) and to differentiate them from fibrolipomatous hamartomas (FLH). Clinical and imaging characteristics of six patients with biopsy-proven NMC and six patients with FLH were reviewed by musculoskeletal, a pediatric, and two in-training radiologists with a literature review to define typical magnetic resonance imaging features by consensus. Five radiology trainees blinded to cases and naive to the diagnosis of NMC and a musculoskeletal-trained radiologist rated each lesion as having more than or less than 50% intralesional fat, as well as an overall impression using axial T1 images. Sensitivity, specificity, accuracy, and interobserver agreement kappa were determined. Typical features of NMC include smoothly tapering, fusiform enlargement of the sciatic nerve or brachial plexus elements with T1 and T2 signal characteristics closely following those of muscle. Longitudinal bands of intervening low T1 and T2 signal were often present and likely corresponded to fibrous tissue by pathology. Four of five patients with long-term follow-up (80%) developed aggressive fibromatosis after percutaneous or surgical biopsy. Nerve fascicle thickening often resulted in a "coaxial cable" appearance similar to classic FLH, however, using a cutoff of <50% intralesional fat allowed for differentiation with 100% sensitivity by all reviewers and 100% specificity when all imaging features were utilized for impressions. Agreement was excellent with all differentiating methods (kappa 0.861-1.0). NMC can be confidently differentiated from FLH and malignancies using characteristic imaging and clinical features. When a diagnosis is made, biopsy should be avoided given frequent complication by aggressive fibromatosis.

Activation of human herpesvirus replication by apoptosis.

PubMed

Prasad, Alka; Remick, Jill; Zeichner, Steven L

2013-10-01

A central feature of herpesvirus biology is the ability of herpesviruses to remain latent within host cells. Classically, exposure to inducing agents, like activating cytokines or phorbol esters that stimulate host cell signal transduction events, and epigenetic agents (e.g., butyrate) was thought to end latency. We recently showed that Kaposi's sarcoma-associated herpesvirus (KSHV, or human herpesvirus-8 [HHV-8]) has another, alternative emergency escape replication pathway that is triggered when KSHV's host cell undergoes apoptosis, characterized by the lack of a requirement for the replication and transcription activator (RTA) protein, accelerated late gene kinetics, and production of virus with decreased infectivity. Caspase-3 is necessary and sufficient to initiate the alternative replication program. HSV-1 was also recently shown to initiate replication in response to host cell apoptosis. These observations suggested that an alternative apoptosis-triggered replication program might be a general feature of herpesvirus biology and that apoptosis-initiated herpesvirus replication may have clinical implications, particularly for herpesviruses that almost universally infect humans. To explore whether an alternative apoptosis-initiated replication program is a common feature of herpesvirus biology, we studied cell lines latently infected with Epstein-Barr virus/HHV-4, HHV-6A, HHV-6B, HHV-7, and KSHV. We found that apoptosis triggers replication for each HHV studied, with caspase-3 being necessary and sufficient for HHV replication. An alternative apoptosis-initiated replication program appears to be a common feature of HHV biology. We also found that commonly used cytotoxic chemotherapeutic agents activate HHV replication, which suggests that treatments that promote apoptosis may lead to activation of latent herpesviruses, with potential clinical significance.

Activation of Human Herpesvirus Replication by Apoptosis

PubMed Central

Prasad, Alka; Remick, Jill

2013-01-01

A central feature of herpesvirus biology is the ability of herpesviruses to remain latent within host cells. Classically, exposure to inducing agents, like activating cytokines or phorbol esters that stimulate host cell signal transduction events, and epigenetic agents (e.g., butyrate) was thought to end latency. We recently showed that Kaposi's sarcoma-associated herpesvirus (KSHV, or human herpesvirus-8 [HHV-8]) has another, alternative emergency escape replication pathway that is triggered when KSHV's host cell undergoes apoptosis, characterized by the lack of a requirement for the replication and transcription activator (RTA) protein, accelerated late gene kinetics, and production of virus with decreased infectivity. Caspase-3 is necessary and sufficient to initiate the alternative replication program. HSV-1 was also recently shown to initiate replication in response to host cell apoptosis. These observations suggested that an alternative apoptosis-triggered replication program might be a general feature of herpesvirus biology and that apoptosis-initiated herpesvirus replication may have clinical implications, particularly for herpesviruses that almost universally infect humans. To explore whether an alternative apoptosis-initiated replication program is a common feature of herpesvirus biology, we studied cell lines latently infected with Epstein-Barr virus/HHV-4, HHV-6A, HHV-6B, HHV-7, and KSHV. We found that apoptosis triggers replication for each HHV studied, with caspase-3 being necessary and sufficient for HHV replication. An alternative apoptosis-initiated replication program appears to be a common feature of HHV biology. We also found that commonly used cytotoxic chemotherapeutic agents activate HHV replication, which suggests that treatments that promote apoptosis may lead to activation of latent herpesviruses, with potential clinical significance. PMID:23885073

Clinical and oral findings in an Afro-Brazilian family with Gorlin-Goltz syndrome: case series and literature review.

PubMed

da Silva Pierro, Viviane Santos; Marins, Marcello Roter; Borges de Oliveira, Renata Cabral; Cortezzi, Wladimir; Janini, Maria Elisa; Maia, Lucianne Cople

2015-01-01

Gorlin-Goltz syndrome (GGS) seems to be unusual in black persons. The authors present an Afro-Brazilian family case report of GGS. The main complaint of the index case was a painless swelling of the left mandible, which was diagnosed as an odontogenic keratocyst. Further classical features of the Syndrome were present in this patient. Other two family members were diagnosed as cases of GGS and one of them presented 11 clinical findings characteristic of the syndrome. From the three cases reported, two of them presented five major diagnostic criteria for the GGS, and the diagnosis was only made because of an oral complaint. This case series emphasizes the importance of carefully examining the patient and close relatives for signs of GGS, even if they belong to an ethnic group in which this diagnosis is unusual. © 2014 Special Care Dentistry Association and Wiley Periodicals, Inc.

Clinical and radiographic features of solitary and cemento-osseous dysplasia-associated simple bone cysts.

PubMed

Chadwick, J W; Alsufyani, N A; Lam, E W N

2011-05-01

The simple bone cyst (SBC) is a pseudocyst that can occur as a solitary entity in the jaws or may occur in association with cemento-osseous dysplasia (COD). The purpose of this study was to review the clinical and radiographic features of solitary and COD-associated SBCs. Archived imaging reports from the Special Procedures Clinic in Oral and Maxillofacial Radiology at the Faculty of Dentistry at the University of Toronto between 1 January 1989 and 31 December 2009 revealed 23 COD-associated SBCs and 68 solitary SBCs. Almost all solitary and COD-associated SBCs were found in the mandible. Furthermore, 87.0% of COD-associated SBCs were found in females in their fifth decade of life (P < 0.001) while solitary SBCs were found in equal numbers in both sexes in their second decade of life (P < 0.005). COD-associated SBCs were also more likely to cause thinning of the endosteal cortex, bone expansion and scalloping of the superior border between teeth (all P < 0.001) than solitary SBCs that are classically described as having these characteristics. Finally, COD-associated SBC demonstrated a loss of lamina dura more often (P < 0.05) than solitary SBCs. Knowledge of the sporadic association between COD and SBC and their potential radiographic appearances should prevent inappropriate treatment and management of these patients.

PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family.

PubMed

Meng, Xiaohong; Li, Qiyou; Guo, Hong; Xu, Haiwei; Li, Shiying; Yin, Zhengqin

2017-01-01

To characterize the clinical and molecular genetic characteristics of a large, multigenerational Chinese family showing different phenotypes. A pedigree consisted of 56 individuals in 5 generations was recruited. Comprehensive ophthalmic examinations were performed in 16 family members affected. Mutation screening of CYP4V2 was performed by Sanger sequencing. Next-generation sequencing (NGS) was performed to capture and sequence all exons of 47 known retinal dystrophy-associated genes in two affected family members who had no mutations in CYP4V2 . The detected variants in NGS were validated by Sanger sequencing in the family members. Two compound heterozygous CYP4V2 mutations (c.802-8_810del17insGC and c.992A>C) were detected in the proband who presented typical clinical features of BCD. One missense mutation (c.1482C>T, p.T494M) in the PRPF3 gene was detected in 9 out of 22 affected family members who manifested classical clinical features of RP. Our results showed that two compound heterozygous CYP4V2 mutations caused BCD, and one missense mutation in PRPF3 was responsible for adRP in this large family. This study suggests that accurate phenotypic diagnosis, molecular diagnosis, and genetic counseling are necessary for patients with hereditary retinal degeneration in some large mutigenerational family.

Annual clinical updates in hematological malignancies: a continuing medical education series. Hodgkin lymphoma: 2011 update on diagnosis, risk-stratification, and management.

PubMed

Ansell, Stephen M

2011-10-01

Hodgkin lymphoma (HL) is an uncommon B-cell lymphoid malignancy affecting 8,500 new patients annually and representing approximately 11% of all lymphomas in the United States. HL is composed of two distinct disease entities; the more commonly diagnosed classical HL and the rare nodular lymphocyte predominant HL. Nodular sclerosis, mixed cellularity, lymphocyte depletion, and lymphocyte-rich HL are subgroups under the designation of classical HL. An accurate assessment of the stage of disease in patients with HL is critical for the selection of the appropriate therapy. Prognostic models that identify patients at low or high risk for recurrence are used to optimize therapy for patients with limited or advanced stage disease. Initial therapy for HL patients is based on the histology of the disease, the anatomical stage, and the presence of poor prognostic features. Patients with early stage disease are treated with combined modality strategies using abbreviated courses of combination chemotherapy followed by involved-field radiation therapy, while those with advanced stage disease receive a longer course of chemotherapy often without radiation therapy. High-dose chemotherapy (HDCT) followed by an autologous stem-cell transplant (ASCT) is the standard of care for most patients who relapse following initial therapy. For patients who fail HDCT with ASCT, palliative chemotherapy, nonmyeloablative allogeneic transplant, or participation in a clinical trial should be considered. 2011 Wiley-Liss, Inc.

An uncommon clinical feature of IAN injury after third molar removal: a delayed paresthesia case series and literature review.

PubMed

Borgonovo, Andrea; Bianchi, Albino; Marchetti, Andrea; Censi, Rachele; Maiorana, Carlo

2012-05-01

After an inferior alveolar nerve (IAN) injury, the onset of altered sensation usually begins immediately after surgery. However, it sometimes begins after several days, which is referred to as delayed paresthesia. The authors considered three different etiologies that likely produce inflammation along the nerve trunk and cause delayed paresthesia: compression of the clot, fibrous reorganization of the clot, and nerve trauma caused by bone fragments during clot organization. The aim of this article was to evaluate the etiology of IAN delayed paresthesia, analyze the literature, present a case series related to three different causes of this pathology, and compare delayed paresthesia with the classic immediate symptomatic paresthesia.

A 27-Year-Old Severely Immunosuppressed Female with Misleading Clinical Features of Disseminated Cutaneous Sporotrichosis

PubMed Central

Patel, Atiyah; Mudenda, Victor; Lakhi, Shabir; Ngalamika, Owen

2016-01-01

Sporotrichosis is a subacute or chronic granulomatous mycosis caused by fungus of the Sporothrix schenckii complex. It is considered to be a rare condition in most parts of the world. It mostly causes cutaneous infection but can also cause multisystemic disease. Unlike most deep cutaneous mycoses which have a primary pulmonary focus, it is usually caused by direct inoculation of the fungus into the skin causing a classical linear, lymphocutaneous nodular eruption. However, atypical presentations of the condition can occur especially in immunosuppressed individuals. We report the case of a severely immunosuppressed female who presented with disseminated cutaneous sporotrichosis which was initially diagnosed and treated as disseminated cutaneous Kaposi's sarcoma. PMID:26881148

Miserere colic (Miserere mei). Contribution on etymology and clinical features; hypothesis on its appearance in medical literature during centuries 17th-18th.

PubMed

Acea Nebril, B

2001-03-01

The definition of ileus has undergone deep changes over the last three millennia. The term ileus was originally used in Classic Greece to describe a common cause of intestinal obstruction, and subsequently the Romans would often translate it into the Latin word volvulus. During the Renaissance, ileus, volvulus and intussusception became synonymous with a vulgar term--Miserere Mei or Miserere colic--whose origin and evolution are still much of a mystery. This paper provides some historical investigation on the Miserere Mei or Miserere colic, with the aim of discussing its evolution within medical literature during the 17th and 18th centuries.

Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia.

PubMed

Marjanović, Ivan V; Selak-Djokić, Biljana; Perić, Stojan; Janković, Milena; Arsenijević, Vladimir; Basta, Ivana; Lavrnić, Dragana; Stefanova, Elka; Stević, Zorica

2017-06-01

Discovering novel mutations in C9orf72, FUS, ANG, and TDP-43 genes in ALS patients arises necessities for better clinical characterizations of these subjects. The aim is to determine clinical and cognitive profile of genetically positive Serbian ALS patients. 241 ALS patients were included in the study (17 familiar and 224 apparently sporadic). The following genes were analyzed: SOD1, C9orf72, ANG, FUS, and TDP-43. An extensive battery of classic neuropsychological tests was used in 27 ALS patients (22 SOD1 positive and 5 SOD1 negative) and 82 healthy controls (HCs). Overall 37 (15.4%) of 241 ALS patients carried mutations in tested genes-among 17 familiar ALS patients 16 (94.1%) were positive and among 224 apparently sporadic 21 (9.4%) had causative mutation. Mutations in SOD1 gene were the most common, representing 27 (73.0%) of all genetically positive ALS patients. The main clinical characteristics of SOD1 positive patients were: spinal onset in lower extremities, common sphincter and sensitive disturbances, and dysexecutive syndrome. Within SOD1 positive patients, we noticed somewhat earlier onset in patients with A145G, sensory and sphincter disturbances were dominant in patients with L144F, while D90A patients had significant sensory involvement. SOD1 negative group consisted of ten (27.0%) patients (six C9orf72, two ANG, one TDP-43, and one patient baring triple FUS, C9orf72 expansion, and ANG variants). Bulbar involvement and more extensive neuropsychological impairment (including executive, visuospatial, and memory difficulties) were the main features of SOD1 negative cohort. Our results suggest that meaningful clinical suspicion of certain ALS genotype might be made based on thorough clinical evaluation of patients.

Revealing a quantum feature of dimensionless uncertainty in linear and quadratic potentials by changing potential intervals

NASA Astrophysics Data System (ADS)

Kheiri, R.

2016-09-01

As an undergraduate exercise, in an article (2012 Am. J. Phys. 80 780-14), quantum and classical uncertainties for dimensionless variables of position and momentum were evaluated in three potentials: infinite well, bouncing ball, and harmonic oscillator. While original quantum uncertainty products depend on {{\\hslash }} and the number of states (n), a dimensionless approach makes the comparison between quantum uncertainty and classical dispersion possible by excluding {{\\hslash }}. But the question is whether the uncertainty still remains dependent on quantum number n. In the above-mentioned article, there lies this contrast; on the one hand, the dimensionless quantum uncertainty of the potential box approaches classical dispersion only in the limit of large quantum numbers (n\\to ∞ )—consistent with the correspondence principle. On the other hand, similar evaluations for bouncing ball and harmonic oscillator potentials are equal to their classical counterparts independent of n. This equality may hide the quantum feature of low energy levels. In the current study, we change the potential intervals in order to make them symmetric for the linear potential and non-symmetric for the quadratic potential. As a result, it is shown in this paper that the dimensionless quantum uncertainty of these potentials in the new potential intervals is expressed in terms of quantum number n. In other words, the uncertainty requires the correspondence principle in order to approach the classical limit. Therefore, it can be concluded that the dimensionless analysis, as a useful pedagogical method, does not take away the quantum feature of the n-dependence of quantum uncertainty in general. Moreover, our numerical calculations include the higher powers of the position for the potentials.

Neuroblastoma in children: Update on clinicopathologic and genetic prognostic factors.

PubMed

Ahmed, Atif A; Zhang, Lei; Reddivalla, Naresh; Hetherington, Maxine

2017-04-01

Neuroblastoma is the most common extracranial solid tumor in childhood accounting for 8-10% of all childhood malignancies. The tumor is characterized by a spectrum of histopathologic features and a heterogeneous clinical phenotype. Modern multimodality therapy results in variable clinical response ranging from cure in localized tumors to limited response in aggressive metastatic disease. Accurate clinical staging and risk assessment based on clinical, surgical, biologic and pathologic criteria are of pivotal importance in assigning prognosis and planning effective treatment approaches. Numerous studies have analyzed the presence of several clinicopathologic and biologic factors in association with the patient's prognosis and outcome. Although patient's age, tumor stage, histopathologic classification, and MYCN amplification are the most commonly validated prognostic markers, several new gene mutations have been identified in sporadic and familial neuroblastoma cases that show association with an adverse outcome. Novel molecular studies have also added data on chromosomal segmental aberrations in MYCN nonamplified tumors. In this review, we provide an updated summary of the clinical, serologic and genetic prognostic indicators in neuroblastoma including classic factors that have consistently played a role in risk stratification of patients as well as newly discovered biomarkers that may show a potential significance in patients' management.

PBIS May Not Qualify as Classical Applied Behavior Analysis. So What?

PubMed

Critchfield, Thomas S

2015-05-01

Some disagreement exists over whether Positive Behavior Interventions and Supports (PBIS) embodies the features of Applied Behavior Analysis (ABA) as described in a classic 1968 paper by Baer, Wolf, and Risley. When it comes to disseminating interventions at a societal level, a more compelling issue is whether ABA should become more like PBIS.

Relationship between islet autoantibody status and the clinical characteristics of children and adults with incident type 1 diabetes in a UK cohort.

PubMed

Bravis, Vassiliki; Kaur, Akaal; Walkey, Helen C; Godsland, Ian F; Misra, Shivani; Bingley, Polly J; Williams, Alistair J K; Dunger, David B; Dayan, Colin M; Peakman, Mark; Oliver, Nick S; Johnston, Desmond G

2018-04-04

To describe the characteristics of children and adults with incident type 1 diabetes in contemporary, multiethnic UK, focusing on differences between the islet autoantibody negative and positive. Observational cohort study. 146 mainly secondary care centres across England and Wales. 3312 people aged ≥5 years were recruited within 6 months of a clinical diagnosis of type 1 diabetes via the National Institute for Health Research Clinical Research Network. 3021 were of white European ethnicity and 291 (9%) were non-white. There was a small male predominance (57%). Young people <17 years comprised 59%. Autoantibody status and characteristics at presentation. The majority presented with classical osmotic symptoms, weight loss and fatigue. Ketoacidosis was common (42%), especially in adults, and irrespective of ethnicity. 35% were overweight or obese. Of the 1778 participants who donated a blood sample, 85% were positive for one or more autoantibodies against glutamate decarboxylase, islet antigen-2 and zinc transporter 8. Presenting symptoms were similar in the autoantibody-positive and autoantibody-negative participants, as was the frequency of ketoacidosis (43%vs40%, P=0.3). Autoantibody positivity was less common with increasing age (P=0.0001), in males compared with females (82%vs90%, P<0.0001) and in people of non-white compared with white ethnicity (73%vs86%, P<0.0001). Body mass index was higher in autoantibody-negative adults than autoantibody-positive adults (median, IQR 25.5, 23.1-29.2vs23.9, 21.4-26.7 kg/m 2 ; P=0.0001). Autoantibody-negative participants were more likely to have a parent with diabetes (28%vs16%, P<0.0001) and less likely to have another autoimmune disease (4%vs8%, P=0.01). Most people assigned a diagnosis of type 1 diabetes presented with classical clinical features and islet autoantibodies. Although indistinguishable at an individual level, autoantibody-negative participants as a group demonstrated features more typically associated with other diabetes subtypes. ISRCTN66496918; Pre-results. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Informative Feature Selection for Object Recognition via Sparse PCA

DTIC Science & Technology

2011-04-07

constraint on images collected from low-power camera net- works instead of high-end photography is that establishing wide-baseline feature correspondence of...variable selection tool for selecting informative features in the object images captured from low-resolution cam- era sensor networks. Firstly, we...More examples can be found in Figure 4 later. 3. Identifying Informative Features Classical PCA is a well established tool for the analysis of high

A descriptive study of facial acanthosis nigricans and its association with body mass index, waist circumference and insulin resistance using HOMA2 IR.

PubMed

Verma, Shyam; Vasani, Resham; Joshi, Rajiv; Phiske, Meghana; Punjabi, Pritesh; Toprani, Tushar

2016-01-01

The term facial acanthosis nigricans (FAN) lacks definition of precise clinical and histopathological features. We present a descriptive study of patients with FAN to define pigmentary patterns and estimate the prevalence of obesity and insulin resistance in these cases. It is a prospective study that included all patients with classical AN of the neck and/or other areas with facial acanthosis nigricans described as brown-to-black macular pigmentation with blurred ill-defined margins, found on the zygomatic and malar areas. The body mass index (BMI) and waist circumference (WC) of the included patients were used as parameters of obesity. Homeostatic Model of Assessment of Insulin Resistance (HOMA2 IR) was used as a parameter to evaluate insulin resistance. Histopathological features of the 6 skin biopsies that were possible were reviewed. Among the 102 included individuals, the patterns of facial pigmentation seen in addition to the classic pattern involving zygomatic and malar areas were a hyperpigmented band on the forehead in 59.80%, periorbital darkening in 17.64%, perioral darkening in 12.74%, and generalized darkening in 9.8% of cases. 85.29% of the males and 100% of the females were found to be obese. Varying degrees of insulin resistance was noted in 82.34% of the individuals. Six biopsies available for evaluation showed changes such as mild epidermal hyperplasia with prominent basal melanin, however, without the typical papillomatosis seen in AN of the flexures. We document an increased prevalence of obesity and insulin resistance in patients presenting with FAN and its presentations in addition to the classical description. We propose that FAN can be considered a cutaneous marker of insulin resistance and that HOMA2 IR can serve as a parameter of insulin resistance in such cases.

A descriptive study of facial acanthosis nigricans and its association with body mass index, waist circumference and insulin resistance using HOMA2 IR

PubMed Central

Verma, Shyam; Vasani, Resham; Joshi, Rajiv; Phiske, Meghana; Punjabi, Pritesh; Toprani, Tushar

2016-01-01

Introduction: The term facial acanthosis nigricans (FAN) lacks definition of precise clinical and histopathological features. We present a descriptive study of patients with FAN to define pigmentary patterns and estimate the prevalence of obesity and insulin resistance in these cases. Materials and Methods: It is a prospective study that included all patients with classical AN of the neck and/or other areas with facial acanthosis nigricans described as brown-to-black macular pigmentation with blurred ill-defined margins, found on the zygomatic and malar areas. The body mass index (BMI) and waist circumference (WC) of the included patients were used as parameters of obesity. Homeostatic Model of Assessment of Insulin Resistance (HOMA2 IR) was used as a parameter to evaluate insulin resistance. Histopathological features of the 6 skin biopsies that were possible were reviewed. Results: Among the 102 included individuals, the patterns of facial pigmentation seen in addition to the classic pattern involving zygomatic and malar areas were a hyperpigmented band on the forehead in 59.80%, periorbital darkening in 17.64%, perioral darkening in 12.74%, and generalized darkening in 9.8% of cases. 85.29% of the males and 100% of the females were found to be obese. Varying degrees of insulin resistance was noted in 82.34% of the individuals. Six biopsies available for evaluation showed changes such as mild epidermal hyperplasia with prominent basal melanin, however, without the typical papillomatosis seen in AN of the flexures. Conclusion: We document an increased prevalence of obesity and insulin resistance in patients presenting with FAN and its presentations in addition to the classical description. We propose that FAN can be considered a cutaneous marker of insulin resistance and that HOMA2 IR can serve as a parameter of insulin resistance in such cases. PMID:27990384

Lenalidomide and Blinatumomab in Treating Patients With Relapsed Non-Hodgkin Lymphoma

ClinicalTrials.gov

2018-06-11

CD19 Positive; Mediastinal Lymphoma; Recurrent B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma and Classic Hodgkin Lymphoma; Recurrent Burkitt Lymphoma; Recurrent Diffuse Large B-Cell Lymphoma; Recurrent Grade 1 Follicular Lymphoma; Recurrent Grade 2 Follicular Lymphoma; Recurrent Grade 3 Follicular Lymphoma; Recurrent Mantle Cell Lymphoma; Recurrent Marginal Zone Lymphoma; Recurrent Non-Hodgkin Lymphoma; Recurrent Small Lymphocytic Lymphoma; Refractory B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma and Classic Hodgkin Lymphoma; Refractory Burkitt Lymphoma; Refractory Diffuse Large B-Cell Lymphoma; Refractory Follicular Lymphoma; Refractory Mantle Cell Lymphoma; Refractory Small Lymphocytic Lymphoma

Non-Markovian Complexity in the Quantum-to-Classical Transition

PubMed Central

Xiong, Heng-Na; Lo, Ping-Yuan; Zhang, Wei-Min; Feng, Da Hsuan; Nori, Franco

2015-01-01

The quantum-to-classical transition is due to environment-induced decoherence, and it depicts how classical dynamics emerges from quantum systems. Previously, the quantum-to-classical transition has mainly been described with memory-less (Markovian) quantum processes. Here we study the complexity of the quantum-to-classical transition through general non-Markovian memory processes. That is, the influence of various reservoirs results in a given initial quantum state evolving into one of the following four scenarios: thermal state, thermal-like state, quantum steady state, or oscillating quantum nonstationary state. In the latter two scenarios, the system maintains partial or full quantum coherence due to the strong non-Markovian memory effect, so that in these cases, the quantum-to-classical transition never occurs. This unexpected new feature provides a new avenue for the development of future quantum technologies because the remaining quantum oscillations in steady states are decoherence-free. PMID:26303002

Three-dimensional texture analysis of contrast enhanced CT images for treatment response assessment in Hodgkin lymphoma: Comparison with F-18-FDG PET

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

Knogler, Thomas; El-Rabadi, Karem; Weber, Michael

2014-12-15

Purpose: To determine the diagnostic performance of three-dimensional (3D) texture analysis (TA) of contrast-enhanced computed tomography (CE-CT) images for treatment response assessment in patients with Hodgkin lymphoma (HL), compared with F-18-fludeoxyglucose (FDG) positron emission tomography/CT. Methods: 3D TA of 48 lymph nodes in 29 patients was performed on venous-phase CE-CT images before and after chemotherapy. All lymph nodes showed pathologically elevated FDG uptake at baseline. A stepwise logistic regression with forward selection was performed to identify classic CT parameters and texture features (TF) that enable the separation of complete response (CR) and persistent disease. Results: The TF fraction of imagemore » in runs, calculated for the 45° direction, was able to correctly identify CR with an accuracy of 75%, a sensitivity of 79.3%, and a specificity of 68.4%. Classical CT features achieved an accuracy of 75%, a sensitivity of 86.2%, and a specificity of 57.9%, whereas the combination of TF and CT imaging achieved an accuracy of 83.3%, a sensitivity of 86.2%, and a specificity of 78.9%. Conclusions: 3D TA of CE-CT images is potentially useful to identify nodal residual disease in HL, with a performance comparable to that of classical CT parameters. Best results are achieved when TA and classical CT features are combined.« less

Illumination invariant feature point matching for high-resolution planetary remote sensing images

NASA Astrophysics Data System (ADS)

Wu, Bo; Zeng, Hai; Hu, Han

2018-03-01

Despite its success with regular close-range and remote-sensing images, the scale-invariant feature transform (SIFT) algorithm is essentially not invariant to illumination differences due to the use of gradients for feature description. In planetary remote sensing imagery, which normally lacks sufficient textural information, salient regions are generally triggered by the shadow effects of keypoints, reducing the matching performance of classical SIFT. Based on the observation of dual peaks in a histogram of the dominant orientations of SIFT keypoints, this paper proposes an illumination-invariant SIFT matching method for high-resolution planetary remote sensing images. First, as the peaks in the orientation histogram are generally aligned closely with the sub-solar azimuth angle at the time of image collection, an adaptive suppression Gaussian function is tuned to level the histogram and thereby alleviate the differences in illumination caused by a changing solar angle. Next, the suppression function is incorporated into the original SIFT procedure for obtaining feature descriptors, which are used for initial image matching. Finally, as the distribution of feature descriptors changes after anisotropic suppression, and the ratio check used for matching and outlier removal in classical SIFT may produce inferior results, this paper proposes an improved matching procedure based on cross-checking and template image matching. The experimental results for several high-resolution remote sensing images from both the Moon and Mars, with illumination differences of 20°-180°, reveal that the proposed method retrieves about 40%-60% more matches than the classical SIFT method. The proposed method is of significance for matching or co-registration of planetary remote sensing images for their synergistic use in various applications. It also has the potential to be useful for flyby and rover images by integrating with the affine invariant feature detectors.

Features in visual search combine linearly

PubMed Central

Pramod, R. T.; Arun, S. P.

2014-01-01

Single features such as line orientation and length are known to guide visual search, but relatively little is known about how multiple features combine in search. To address this question, we investigated how search for targets differing in multiple features (intensity, length, orientation) from the distracters is related to searches for targets differing in each of the individual features. We tested race models (based on reaction times) and co-activation models (based on reciprocal of reaction times) for their ability to predict multiple feature searches. Multiple feature searches were best accounted for by a co-activation model in which feature information combined linearly (r = 0.95). This result agrees with the classic finding that these features are separable i.e., subjective dissimilarity ratings sum linearly. We then replicated the classical finding that the length and width of a rectangle are integral features—in other words, they combine nonlinearly in visual search. However, to our surprise, upon including aspect ratio as an additional feature, length and width combined linearly and this model outperformed all other models. Thus, length and width of a rectangle became separable when considered together with aspect ratio. This finding predicts that searches involving shapes with identical aspect ratio should be more difficult than searches where shapes differ in aspect ratio. We confirmed this prediction on a variety of shapes. We conclude that features in visual search co-activate linearly and demonstrate for the first time that aspect ratio is a novel feature that guides visual search. PMID:24715328

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

PubMed

Calmels, Nadège; Greff, Géraldine; Obringer, Cathy; Kempf, Nadine; Gasnier, Claire; Tarabeux, Julien; Miguet, Marguerite; Baujat, Geneviève; Bessis, Didier; Bretones, Patricia; Cavau, Anne; Digeon, Béatrice; Doco-Fenzy, Martine; Doray, Bérénice; Feillet, François; Gardeazabal, Jesus; Gener, Blanca; Julia, Sophie; Llano-Rivas, Isabel; Mazur, Artur; Michot, Caroline; Renaldo-Robin, Florence; Rossi, Massimiliano; Sabouraud, Pascal; Keren, Boris; Depienne, Christel; Muller, Jean; Mandel, Jean-Louis; Laugel, Vincent

2016-03-22

Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisystem condition known as Cockayne syndrome (CS). In view of the clinical overlap between NER-related disorders, as well as the existence of multiple phenotypes and the numerous genes involved, we developed a new diagnostic approach based on the enrichment of 16 NER-related genes by multiplex amplification coupled with next-generation sequencing (NGS). Our test cohort consisted of 11 DNA samples, all with known mutations and/or non pathogenic SNPs in two of the tested genes. We then used the same technique to analyse samples from a prospective cohort of 40 patients. Multiplex amplification and sequencing were performed using AmpliSeq protocol on the Ion Torrent PGM (Life Technologies). We identified causative mutations in 17 out of the 40 patients (43%). Four patients showed biallelic mutations in the ERCC6(CSB) gene, five in the ERCC8(CSA) gene: most of them had classical CS features but some had very mild and incomplete phenotypes. A small cohort of 4 unrelated classic XP patients from the Basque country (Northern Spain) revealed a common splicing mutation in POLH (XP-variant), demonstrating a new founder effect in this population. Interestingly, our results also found ERCC2(XPD), ERCC3(XPB) or ERCC5(XPG) mutations in two cases of UV-sensitive syndrome and in two cases with mixed XP/CS phenotypes. Our study confirms that NGS is an efficient technique for the analysis of NER-related disorders on a molecular level. It is particularly useful for phenotypes with combined features or unusually mild symptoms. Targeted NGS used in conjunction with DNA repair functional tests and precise clinical evaluation permits rapid and cost-effective diagnosis in patients with NER-defects.

Tandem duplication within a Neurofibromatosis type I (NFI) gene exon in a family with features of Watson syndrome and Noonan syndrome

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

Tassabehji, M.; Strachan, T.; Colley, A.

Type 1 neurofibromatosis (NF1), Watson syndrome (WS), and Noonan syndrome (NS) show some overlap in clinical manifestations. In addition, WS has been shown to be linked to markers flanking the NF1 locus and a deletion at the NF1 locus demonstrated in a WS patient. This suggests either that WS and NF1 are allelic or the phenotypes arise from mutations in very closely linked genes. Here the authors provide evidence for the former by demonstrating a mutation in the NF1 gene in a family with features of both WS and NS. The mutation is an almost perfect in-frame tandem duplication ofmore » 42 bases in exon 28 of the NF1 gene. Unlike the mutations previously described in classical NF1, which show a preponderance of null alleles, the mutation in this family would be expected to result in a mutant neurofibromin product. 31 refs., 2 figs.« less

Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.

PubMed

Kaczorowska, Ewa; Zimowski, Janusz; Cichoń-Kotek, Monika; Mrozińska, Agnieszka; Purzycka, Joanna; Wierzba, Jolanta; Limon, Janusz; Lipska-Ziętkiewicz, Beata S

Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. Here, we report a 4 ½ year-old female with classical 45,X Turner syndrome who also had Duchenne muscular dystrophy caused by a point mutation in the dystrophin gene (c.9055delG). The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema. Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf muscular hypertrophy. The coexistence of an X-linked recessive disorder should be considered in women affected by Turner syndrome presenting with additional atypical clinical features.

Characterizing chaotic melodies in automatic music composition

NASA Astrophysics Data System (ADS)

Coca, Andrés E.; Tost, Gerard O.; Zhao, Liang

2010-09-01

In this paper, we initially present an algorithm for automatic composition of melodies using chaotic dynamical systems. Afterward, we characterize chaotic music in a comprehensive way as comprising three perspectives: musical discrimination, dynamical influence on musical features, and musical perception. With respect to the first perspective, the coherence between generated chaotic melodies (continuous as well as discrete chaotic melodies) and a set of classical reference melodies is characterized by statistical descriptors and melodic measures. The significant differences among the three types of melodies are determined by discriminant analysis. Regarding the second perspective, the influence of dynamical features of chaotic attractors, e.g., Lyapunov exponent, Hurst coefficient, and correlation dimension, on melodic features is determined by canonical correlation analysis. The last perspective is related to perception of originality, complexity, and degree of melodiousness (Euler's gradus suavitatis) of chaotic and classical melodies by nonparametric statistical tests.

Large Impact Features on Europa: Results of the Galileo Nominal Mission

NASA Technical Reports Server (NTRS)

Moore, Jeffrey M.; Asphaug, Erik; Sullivan, Robert J.; Klemaszewski, James E.; Bender, Kelly C.; Greeley, Ronald; Geissler, Paul E.; McEwen, Alfred S.; Turtle, Elizabeth P.; Phillips, Cynthia B.

1998-01-01

The Galileo Orbiter examined several impact features on Europa at considerably better resolution than was possible from Voyager. The new data allow us to describe the morphology and infer the geology of the largest impact features on Europa, which are probes into the crust. We observe two basic types of large impact features: (1) "classic" impact craters that grossly resemble well-preserved lunar craters of similar size but are more topographically subdued (e.g., Pwyll) and (2) very flat circular features that lack the basic topographic structures of impact craters such as raised rims, a central depression, or central peaks, and which largely owe their identification as impact features to the field of secondary craters radially sprayed about them (e.g., Callanish). Our interpretation is that the classic craters (all <30 km diameter) formed entirely within a solid target at least 5 to 10 km thick that exhibited brittle behavior on time scales of the impact events. Some of the classic craters have a more subdued topography than fresh craters of similar size on other icy bodies such as Ganymede and Callisto, probably due to the enhanced viscous relaxation produced by a steeper thermal gradient on Europa. Pedestal ejecta facies on Europa (and Ganymede) may be produced by the relief-flattening movement of plastically deforming but otherwise solid ice that was warm at the time of emplacement. Callanish and Tyre do not appear to be larger and even more viscously relaxed versions of the classic craters; rather they display totally different morphologies such as distinctive textures and a series of large concentric structural rings cutting impact-feature-related materials. Impact simulations suggest that the distinctive morphologies would not be produced by impact into a solid ice target, but may be explained by impact into an ice layer approximately 10 to 15 km thick overlying a low-viscosity material such as water. The very wide (near antipodal) separation of Callanish and Tyre imply that approximately 10-15 km may have been the global average thickness of the rigid crust of Europa when these impacts occurred. The absence of detectable craters superposed on the interior deposits of Callanish suggests that it is geologically young (< 10(exp 8) years). Hence, it seems likely that our preliminary conclusions about the subsurface structure of Europa apply to the current day.

Large Impact Features on Europa: Results of the Galileo Nominal Mission

USGS Publications Warehouse

Moore, Johnnie N.; Asphaug, E.; Sullivan, R.J.; Klemaszewski, J.E.; Bender, K.C.; Greeley, R.; Geissler, P.E.; McEwen, A.S.; Turtle, E.P.; Phillips, C.B.; Tufts, B.R.; Head, J. W.; Pappalardo, R.T.; Jones, K.B.; Chapman, C.R.; Belton, M.J.S.; Kirk, R.L.; Morrison, D.

1998-01-01

The Galileo Orbiter examined several impact features on Europa at considerably better resolution than was possible from Voyager. The new data allow us to describe the morphology and infer the geology of the largest impact features on Europa, which are probes into the crust. We observe two basic types of large impact features: (1) "classic" impact craters that grossly resemble well-preserved lunar craters of similar size but are more topographically subdued (e.g., Pwyll) and (2) very flat circular features that lack the basic topographic structures of impact craters such as raised rims, a central depression, or central peaks, and which largely owe their identification as impact features to the field of secondary craters radially sprayed about them (e.g., Callanish). Our interpretation is that the classic craters (all <30 km diameter) formed entirely within a solid target at least 5 to 10 km thick that exhibited brittle behavior on time scales of the impact events. Some of the classic craters have a more subdued topography than fresh craters of similar size on other icy bodies such as Ganymede and Callisto, probably due to the enhanced viscous relaxation produced by a steeper thermal gradient on Europa. Pedestal ejecta facies on Europa (and Ganymede) may be produced by the relief-flattening movement of plastically deforming but otherwise solid ice that was warm at the time of emplacement. Callanish and Tyre do not appear to be larger and even more viscously relaxed versions of the classic craters; rather they display totally different morphologies such as distinctive textures and a series of large concentric structural rings cutting impact-feature-related materials. Impact simulations suggest that the distinctive morphologies would not be produced by impact into a solid ice target, but may be explained by impact into an ice layer ~10 to 15 km thick overlying a low-viscosity material such as water. The very wide (near antipodal) separation of Callanish and Tyre imply that ~10-15 km may have been the global average thickness of the rigid crust of Europa when these impacts occurred. The absence of detectable craters superposed on the interior deposits of Callanish suggests that it is geologically young (<108years). Hence, it seems likely that our preliminary conclusions about the subsurface structure of Europa apply to the current day. ?? 1998 Academic Press.

Hashimoto thyroiditis: clinical and diagnostic criteria.

PubMed

Caturegli, P; De Remigis, A; Rose, N R

2014-01-01

Hashimoto thyroiditis (HT), now considered the most common autoimmune disease, was described over a century ago as a pronounced lymphoid goiter affecting predominantly women. In addition to this classic form, several other clinico-pathologic entities are now included under the term HT: fibrous variant, IgG4-related variant, juvenile form, Hashitoxicosis, and painless thyroiditis (sporadic or post-partum). All forms are characterized pathologically by the infiltration of hematopoietic mononuclear cells, mainly lymphocytes, in the interstitium among the thyroid follicles, although specific features can be recognized in each variant. Thyroid cells undergo atrophy or transform into a bolder type of follicular cell rich in mitochondria called Hürthle cell. Most HT forms ultimately evolve into hypothyroidism, although at presentation patients can be euthyroid or even hyperthyroid. The diagnosis of HT relies on the demonstration of circulating antibodies to thyroid antigens (mainly thyroperoxidase and thyroglobulin) and reduced echogenicity on thyroid sonogram in a patient with proper clinical features. The treatment remains symptomatic and based on the administration of synthetic thyroid hormones to correct the hypothyroidism as needed. Surgery is performed when the goiter is large enough to cause significant compression of the surrounding cervical structures, or when some areas of the thyroid gland mimic the features of a nodule whose cytology cannot be ascertained as benign. HT remains a complex and ever expanding disease of unknown pathogenesis that awaits prevention or novel forms of treatment. Copyright © 2014 Elsevier B.V. All rights reserved.

Classical synchronization indicates persistent entanglement in isolated quantum systems

PubMed Central

Witthaut, Dirk; Wimberger, Sandro; Burioni, Raffaella; Timme, Marc

2017-01-01

Synchronization and entanglement constitute fundamental collective phenomena in multi-unit classical and quantum systems, respectively, both equally implying coordinated system states. Here, we present a direct link for a class of isolated quantum many-body systems, demonstrating that synchronization emerges as an intrinsic system feature. Intriguingly, quantum coherence and entanglement arise persistently through the same transition as synchronization. This direct link between classical and quantum cooperative phenomena may further our understanding of strongly correlated quantum systems and can be readily observed in state-of-the-art experiments, for example, with ultracold atoms. PMID:28401881

Enhanced auditory temporal gap detection in listeners with musical training.

PubMed

Mishra, Srikanta K; Panda, Manas R; Herbert, Carolyn

2014-08-01

Many features of auditory perception are positively altered in musicians. Traditionally auditory mechanisms in musicians are investigated using the Western-classical musician model. The objective of the present study was to adopt an alternative model-Indian-classical music-to further investigate auditory temporal processing in musicians. This study presents that musicians have significantly lower across-channel gap detection thresholds compared to nonmusicians. Use of the South Indian musician model provides an increased external validity for the prediction, from studies on Western-classical musicians, that auditory temporal coding is enhanced in musicians.

Classical synchronization indicates persistent entanglement in isolated quantum systems.

PubMed

Witthaut, Dirk; Wimberger, Sandro; Burioni, Raffaella; Timme, Marc

2017-04-12

Synchronization and entanglement constitute fundamental collective phenomena in multi-unit classical and quantum systems, respectively, both equally implying coordinated system states. Here, we present a direct link for a class of isolated quantum many-body systems, demonstrating that synchronization emerges as an intrinsic system feature. Intriguingly, quantum coherence and entanglement arise persistently through the same transition as synchronization. This direct link between classical and quantum cooperative phenomena may further our understanding of strongly correlated quantum systems and can be readily observed in state-of-the-art experiments, for example, with ultracold atoms.

Overview of Classical Swine Fever (Hog Cholera, Classical Swine fever)

USDA-ARS?s Scientific Manuscript database

Classical swine fever is a contagious often fatal disease of pigs clinically characterized by high body temperature, lethargy, yellowish diarrhea, vomits and purple skin discoloration of ears, lower abdomen and legs. It was first described in the early 19th century in the USA. Later, a condition i...

A General Purpose Feature Extractor for Light Detection and Ranging Data

DTIC Science & Technology

2010-11-17

datasets, and the 3D MIT DARPA Urban Challenge dataset. Keywords: SLAM ; LIDARs ; feature detection; uncertainty estimates; descriptors 1. Introduction The...November 2010 Abstract: Feature extraction is a central step of processing Light Detection and Ranging ( LIDAR ) data. Existing detectors tend to exploit...detector for both 2D and 3D LIDAR data that is applicable to virtually any environment. Our method adapts classic feature detection methods from the image

Plasmonic eigenmodes in individual and bow-tie graphene nanotriangles

NASA Astrophysics Data System (ADS)

Wang, Weihua; Christensen, Thomas; Jauho, Antti-Pekka; Thygesen, Kristian S.; Wubs, Martijn; Mortensen, N. Asger

2015-04-01

In classical electrodynamics, nanostructured graphene is commonly modeled by the computationally demanding problem of a three-dimensional conducting film of atomic-scale thickness. Here, we propose an efficient alternative two-dimensional electrostatic approach where all calculation procedures are restricted to the graphene sheet. Furthermore, to explore possible quantum effects, we perform tight-binding calculations, adopting a random-phase approximation. We investigate multiple plasmon modes in 20 nm equilateral triangles of graphene, treating the optical response classically as well as quantum mechanically. Compared to the classical plasmonic spectrum which is ``blind'' to the edge termination, we find that the quantum plasmon frequencies exhibit blueshifts in the case of armchair edge termination of the underlying atomic lattice, while redshifts are found for zigzag edges. Furthermore, we find spectral features in the zigzag case which are associated with electronic edge states not present for armchair termination. Merging pairs of triangles into dimers, plasmon hybridization leads to energy splitting that appears strongest in classical calculations while splitting is lower for armchair edges and even more reduced for zigzag edges. Our various results illustrate a surprising phenomenon: Even 20 nm large graphene structures clearly exhibit quantum plasmonic features due to atomic-scale details in the edge termination.

Atypical Ewing sarcoma breakpoint region 1 fluorescence in-situ hybridization signal patterns in bone and soft tissue tumours: diagnostic experience with 135 cases.

PubMed

Vargas, A Cristina; Selinger, Christina I; Satgunaseelan, Laveniya; Cooper, Wendy A; Gupta, Ruta; Stalley, Paul; Brown, Wendy; Soper, Judy; Schatz, Julie; Boyle, Richard; Thomas, David M; Tattersall, Martin H N; Bhadri, Vivek A; Maclean, Fiona; Bonar, S Fiona; Scolyer, Richard A; Karim, Rooshdiya Z; McCarthy, Stanley W; Mahar, Annabelle; O'Toole, Sandra A

2016-12-01

Recurrent Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangements characterize a select group of bone and soft tissue tumours. In our routine diagnostic practice with fluorescence in-situ hybridization (FISH), we have occasionally observed EWSR1 gene rearrangements in tumours not associated classically with EWSR1 translocations. This study aimed to review our institutional experience of this phenomenon and also to highlight the occurrence of unusual EWSR1 FISH signals (i.e. 5' centromeric region or 3' telomeric region signals) that do not fulfil the published diagnostic criteria for rearrangements. Using an EWSR1 break-apart probe, we performed FISH assays on formalin-fixed paraffin-embedded tissue sections from 135 bone and soft tissue specimens as part of their routine diagnostic work-up. EWSR1 gene rearrangements were identified in 51% of cases, 56% of which also showed an abnormal FISH signal pattern (in addition to classically rearranged signals). However, atypical FISH signals were present in 45% of the non-rearranged cases. In addition, we observed tumours unrelated to those described classically as EWSR1-associated that were technically EWSR1-rearranged in 6% of cases. Borderline levels of rearrangement (affecting 10-30% of lesional cells) were present in an additional 17% of these cases. While our study confirmed that FISH is a sensitive and specific tool in the diagnosis of EWSR1-associated tumours, atypical FISH signals and classical rearrangement in entities other than EWSR1-associated tumours can occur. Therefore, it is essential that the FISH result not be used as an isolated test, but must be evaluated in the context of clinical features, imaging, pathological and immunohistochemical findings. © 2016 John Wiley & Sons Ltd.

Clinical Forms of Chikungunya in Gabon, 2010

PubMed Central

Caron, Mélanie; Grard, Gilda; Mombo, Illich; Bikié, Branly; Paupy, Christophe; Becquart, Pierre; Bisvigou, Ulrich; Leroy, Eric Maurice

2012-01-01

Background Chikungunya virus (CHIKV) has caused multiple outbreaks in tropical and temperate areas worldwide, but the clinical and biological features of this disease are poorly described, particularly in Africa. We report a prospective study of clinical and biological features during an outbreak that occurred in Franceville, Gabon in 2010. Methodology/Principal Findings We collected, in suspect cases (individuals presenting with at least one of the following symptoms or signs: fever, arthralgias, myalgias, headaches, rash, fatigue, nausea, vomiting, diarrhea, bleeding, or jaundice), blood samples, demographic and clinical characteristics and outcome. Hematological and biochemical tests, blood smears for malaria parasites and quantitative PCR for CHIKV then dengue virus were performed. CHIKV+ patients with concomitant malaria and/or dengue were excluded from the study. From May to July 2010, data on 270 laboratory-confirmed CHIK patients were recorded. Fever and arthralgias were reported by respectively 85% and 90% of patients, while myalgias, rash and hemorrhage were noted in 73%, 42% and 2% of patients. The patients were grouped into 4 clinical categories depending on the existence of fever and/or joint pain. On this basis, mixed forms accounted for 78.5% of cases, arthralgic forms 12.6%, febrile forms 6.7% and unusual forms (without fever and arthralgias) 2.2%. No cases of organ failure or death were reported. Elevated liver enzyme and creatinine levels, anemia and lymphocytopenia were the predominant biological abnormalities, and lymphocytopenia was more severe in patients with high viral loads (p = 0.01). Conclusions/Significance During CHIK epidemics, some patients may not have classical symptoms. The existence of unusual forms and the absence of severe forms of CHIK call for surveillance to detect any change in pathogenicity. PMID:22348166

Clinical and epidemiological features of human rabies cases in the Philippines: a review from 1987 to 2006.

PubMed

Dimaano, Efren M; Scholand, Stephen J; Alera, Maria Theresa P; Belandres, Domingo B

2011-07-01

Rabies viral infection causes a fatal encephalomyelitis. In humans, classic features include hydrophobia, aerophobia, hypersalivation, agitation, and neurological symptoms. In the Philippines, canine rabies contributes to a significant burden of human disease. We retrospectively reviewed the medical records of 1839 patients admitted to San Lazaro Hospital, Manila, Philippines between 1987 and 2006, with a clinical diagnosis of rabies. We used the World Health Organization case definition for clinical rabies, which is defined by the presence of hydrophobia. Male patients outnumbered females by 2.2 to 1 and twice the number of adults were affected compared with children. Most patients were indigent. Dog bites occurred more than cat bites (97.1% vs. 2.9%) and most cases were caused by a single bite (86.2%), compared to multiple bites (8.7%). Bites to the face, head, and neck led to shorter incubation times, yet the incubation period varied, with most cases (42.7%) occurring in the bracket of 91-365 days post-exposure. Clinical symptoms included hydrophobia in all cases, as per our case definition, and aerophobia in 95.5%; only 9.4% had fever, 9.2% exhibited restlessness, and 6.7% exhibited hypersalivation. Localized neurological symptoms included pain (4.1%), numbness (2.6%), and itching (2.3%). None of the patients received appropriate post-exposure prophylaxis (PEP). This study examines the largest cohort of rabies patients reported to-date. Better understanding of clinical disease manifestations may help in salvage efforts to save patients with rabies. Knowledge of epidemiological factors will improve preventative efforts to reduce suffering from rabies. Copyright © 2011 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.

PubMed

Beunders, Gea; van de Kamp, Jiddeke; Vasudevan, Pradeep; Morton, Jenny; Smets, Katrien; Kleefstra, Tjitske; de Munnik, Sonja A; Schuurs-Hoeijmakers, Janneke; Ceulemans, Berten; Zollino, Marcella; Hoffjan, Sabine; Wieczorek, Stefan; So, Joyce; Mercer, Leanne; Walker, Tanya; Velsher, Lea; Parker, Michael J; Magee, Alex C; Elffers, Bart; Kooy, R Frank; Yntema, Helger G; Meijers-Heijboer, Elizabeth J; Sistermans, Erik A

2016-08-01

AUTS2 syndrome is an 'intellectual disability (ID) syndrome' caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2. So far, 50 patients with AUTS2 syndrome have been described, but clinical data are limited and almost all cases involved young children. We present a detailed clinical description of 13 patients (including six adults) with AUTS2 syndrome who have a pathogenic mutation or deletion in AUTS2. All patients were systematically evaluated by the same clinical geneticist. All patients have borderline to severe ID/developmental delay, 83-100% have microcephaly and feeding difficulties. Congenital malformations are rare, but mild heart defects, contractures and genital malformations do occur. There are no major health issues in the adults; the oldest of whom is now 59 years of age. Behaviour is marked by it is a friendly outgoing social interaction. Specific features of autism (like obsessive behaviour) are seen frequently (83%), but classical autism was not diagnosed in any. A mild clinical phenotype is associated with a small in-frame 5' deletions, which are often inherited. Deletions and other mutations causing haploinsufficiency of the full-length AUTS2 transcript give a more severe phenotype and occur de novo. The 13 patients with AUTS2 syndrome with unique pathogenic deletions scattered around the AUTS2 locus confirm a phenotype-genotype correlation. Despite individual variations, AUTS2 syndrome emerges as a specific ID syndrome with microcephaly, feeding difficulties, dysmorphic features and a specific behavioural phenotype. 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/

Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing

PubMed Central

Liu, Laura; Chen, Ho-Min; Tsai, Shawn; Chang, Tsong-Chi; Tsai, Tzu-Hsun; Yang, Chung-May; Chao, An-Ning; Chen, Kuan-Jen; Kao, Ling-Yuh; Yeung, Ling; Yeh, Lung-Kun; Hwang, Yih-Shiou; Wu, Wei-Chi; Lai, Chi-Chun

2015-01-01

Purpose To investigate the clinical characteristics of X-linked retinoschisis (XLRS) and identify genetic mutations in Taiwanese patients with XLRS. Methods This study included 23 affected males from 16 families with XLRS. Fundus photography, spectral domain optical coherent tomography (SD-OCT), fundus autofluorescence (FAF), and full-field electroretinograms (ERGs) were performed. The coding regions of the RS1 gene that encodes retinoschisin were sequenced. Results The median age at diagnosis was 18 years (range 4–58 years). The best-corrected visual acuity ranged from no light perception to 20/25. The typical spoke-wheel pattern in the macula was present in 61% of the patients (14/23) while peripheral retinoschisis was present in 43% of the patients (10/23). Four eyes presented with vitreous hemorrhage, and two eyes presented with leukocoria that mimics Coats’ disease. Macular schisis was identified with SD-OCT in 82% of the eyes (31/38) while foveal atrophy was present in 18% of the eyes (7/38). Concentric area of high intensity was the most common FAF abnormality observed. Seven out of 12 patients (58%) showed electronegative ERG findings. Sequencing of the RS1 gene identified nine mutations, six of which were novel. The mutations are all located in exons 4–6, including six missense mutations, two nonsense mutations, and one deletion-caused frameshift mutation. Conclusions XLRS is a clinically heterogeneous disease with profound phenotypic inter- and intrafamiliar variability. Genetic sequencing is valuable as it allows a definite diagnosis of XLRS to be made without the classical clinical features and ERG findings. This study showed the variety of clinical features of XLRS and reported novel mutations. PMID:25999676

The Clinical and Immunologic Features of Patients With Combined Anti-GBM Disease and Castleman Disease.

PubMed

Gu, Qiu-Hua; Jia, Xiao-Yu; Hu, Shui-Yi; Wang, Su-Xia; Zou, Wan-Zhong; Cui, Zhao; Zhao, Ming-Hui

2018-06-01

Patients with both anti-glomerular basement membrane (anti-GBM) disease and Castleman disease have been rarely reported. In this study, we report 3 patients with this combination. They had immunologic features similar to patients with classic anti-GBM disease. Sera from the 3 patients recognized the noncollagenous (NC) domain of the α3 chain of type IV collagen (α3(IV)NC1) and its 2 major epitopes, EA and EB. All 4 immunogloblin G (IgG) subclasses against α3(IV)NC1 were detectable, with predominance of IgG1. In one patient with lymph node biopsy specimens available, sporadic plasma cells producing α3(IV)NC1-IgG were found, suggesting a causal relationship between the 2 diseases. One patient, who achieved remission with antibody clearance and normalization of serum creatinine and interleukin 6 concentrations after plasma exchange and 3 cycles of chemotherapy, experienced recurrence of anti-GBM antibodies and an increase in interleukin 6 concentration after chemotherapy discontinuation because of adverse effects, but both returned to normal after another cycle of chemotherapy. This clinical course and the pathologic findings support the hypothesis that the Castleman disease-associated tumor cells are the source of the anti-GBM autoantibodies. Copyright © 2018 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

Endoscopic evaluation of therapeutic effects of "Anuloma-Viloma Pranayama" in Pratishyaya w.s.r. to mucociliary clearance mechanism and Bernoulli's principle.

PubMed

Bhardwaj, Atul; Sharma, Mahendra Kumar; Gupta, Manoj

2013-10-01

The current endeavor intended to evaluate the effectiveness and mode of action of Anuloma-Viloma Pranayama (AVP), i.e., alternate nasal breathing exercise, in resolving clinical features of Pratishyaya, i.e., rhinosinusitis. The present study was directed to validate the use of classical "saccharin test" in measuring the nasal health by measuring mucociliary clearance time. This study also highlights the effects of AVP by application of Bernoulli principle in ventilation of paranasal sinuses and surface oxygenation of nasal and paranasal sinuses ciliary epithelium. Clinically, endoscopically and radiologically diagnosed patients of Pratishyaya, i.e., rhinosinusitis, satisfying the inclusion criteria were selected to perform AVP as a breathing exercise regularly for 30 min every day in order to evaluate the effectiveness of AVP in resolving features of rhinosinusitis. Saccharin test was performed before and after completion of 40 days trial to assess the nasal ciliary activity, which has been proved to be directly related to the health of ciliary epithelium and nasal health overall as well. AVP may be regarded as a catalyst to conspicuously enhance ventilation and oxygenation of the paranasal sinuses and the positively effect the nasal respiratory epithelium by increasing better surface availability of oxygen and negative pressure in the nasal cavity itself.

Endoscopic evaluation of therapeutic effects of “Anuloma-Viloma Pranayama” in Pratishyaya w.s.r. to mucociliary clearance mechanism and Bernoulli's principle

PubMed Central

Bhardwaj, Atul; Sharma, Mahendra Kumar; Gupta, Manoj

2013-01-01

The current endeavor intended to evaluate the effectiveness and mode of action of Anuloma-Viloma Pranayama (AVP), i.e., alternate nasal breathing exercise, in resolving clinical features of Pratishyaya, i.e., rhinosinusitis. The present study was directed to validate the use of classical “saccharin test” in measuring the nasal health by measuring mucociliary clearance time. This study also highlights the effects of AVP by application of Bernoulli principle in ventilation of paranasal sinuses and surface oxygenation of nasal and paranasal sinuses ciliary epithelium. Clinically, endoscopically and radiologically diagnosed patients of Pratishyaya, i.e., rhinosinusitis, satisfying the inclusion criteria were selected to perform AVP as a breathing exercise regularly for 30 min every day in order to evaluate the effectiveness of AVP in resolving features of rhinosinusitis. Saccharin test was performed before and after completion of 40 days trial to assess the nasal ciliary activity, which has been proved to be directly related to the health of ciliary epithelium and nasal health overall as well. AVP may be regarded as a catalyst to conspicuously enhance ventilation and oxygenation of the paranasal sinuses and the positively effect the nasal respiratory epithelium by increasing better surface availability of oxygen and negative pressure in the nasal cavity itself. PMID:24696572

HLA-G Haplotypes Are Differentially Associated with Asthmatic Features.

PubMed

Ribeyre, Camille; Carlini, Federico; René, Céline; Jordier, François; Picard, Christophe; Chiaroni, Jacques; Abi-Rached, Laurent; Gouret, Philippe; Marin, Grégory; Molinari, Nicolas; Chanez, Pascal; Paganini, Julien; Gras, Delphine; Di Cristofaro, Julie

2018-01-01

Human leukocyte antigen (HLA)-G, a HLA class Ib molecule, interacts with receptors on lymphocytes such as T cells, B cells, and natural killer cells to influence immune responses. Unlike classical HLA molecules, HLA-G expression is not found on all somatic cells, but restricted to tissue sites, including human bronchial epithelium cells (HBEC). Individual variation in HLA-G expression is linked to its genetic polymorphism and has been associated with many pathological situations such as asthma, which is characterized by epithelium abnormalities and inflammatory cell activation. Studies reported both higher and equivalent soluble HLA-G (sHLA-G) expression in different cohorts of asthmatic patients. In particular, we recently described impaired local expression of HLA-G and abnormal profiles for alternatively spliced isoforms in HBEC from asthmatic patients. sHLA-G dosage is challenging because of its many levels of polymorphism (dimerization, association with β2-microglobulin, and alternative splicing), thus many clinical studies focused on HLA-G single-nucleotide polymorphisms as predictive biomarkers, but few analyzed HLA-G haplotypes. Here, we aimed to characterize HLA-G haplotypes and describe their association with asthmatic clinical features and sHLA-G peripheral expression and to describe variations in transcription factor (TF) binding sites and alternative splicing sites. HLA - G haplotypes were differentially distributed in 330 healthy and 580 asthmatic individuals. Furthermore, HLA-G haplotypes were associated with asthmatic clinical features showed. However, we did not confirm an association between sHLA-G and genetic, biological, or clinical parameters. HLA-G haplotypes were phylogenetically split into distinct groups, with each group displaying particular variations in TF binding or RNA splicing sites that could reflect differential HLA-G qualitative or quantitative expression, with tissue-dependent specificities. Our results, based on a multicenter cohort, thus support the pertinence of HLA-G haplotypes as predictive genetic markers for asthma.

HLA-G Haplotypes Are Differentially Associated with Asthmatic Features

PubMed Central

Ribeyre, Camille; Carlini, Federico; René, Céline; Jordier, François; Picard, Christophe; Chiaroni, Jacques; Abi-Rached, Laurent; Gouret, Philippe; Marin, Grégory; Molinari, Nicolas; Chanez, Pascal; Paganini, Julien; Gras, Delphine; Di Cristofaro, Julie

2018-01-01

Human leukocyte antigen (HLA)-G, a HLA class Ib molecule, interacts with receptors on lymphocytes such as T cells, B cells, and natural killer cells to influence immune responses. Unlike classical HLA molecules, HLA-G expression is not found on all somatic cells, but restricted to tissue sites, including human bronchial epithelium cells (HBEC). Individual variation in HLA-G expression is linked to its genetic polymorphism and has been associated with many pathological situations such as asthma, which is characterized by epithelium abnormalities and inflammatory cell activation. Studies reported both higher and equivalent soluble HLA-G (sHLA-G) expression in different cohorts of asthmatic patients. In particular, we recently described impaired local expression of HLA-G and abnormal profiles for alternatively spliced isoforms in HBEC from asthmatic patients. sHLA-G dosage is challenging because of its many levels of polymorphism (dimerization, association with β2-microglobulin, and alternative splicing), thus many clinical studies focused on HLA-G single-nucleotide polymorphisms as predictive biomarkers, but few analyzed HLA-G haplotypes. Here, we aimed to characterize HLA-G haplotypes and describe their association with asthmatic clinical features and sHLA-G peripheral expression and to describe variations in transcription factor (TF) binding sites and alternative splicing sites. HLA-G haplotypes were differentially distributed in 330 healthy and 580 asthmatic individuals. Furthermore, HLA-G haplotypes were associated with asthmatic clinical features showed. However, we did not confirm an association between sHLA-G and genetic, biological, or clinical parameters. HLA-G haplotypes were phylogenetically split into distinct groups, with each group displaying particular variations in TF binding or RNA splicing sites that could reflect differential HLA-G qualitative or quantitative expression, with tissue-dependent specificities. Our results, based on a multicenter cohort, thus support the pertinence of HLA-G haplotypes as predictive genetic markers for asthma. PMID:29527207

Studying the effects of classic hallucinogens in the treatment of alcoholism: rationale, methodology, and current research with psilocybin.

PubMed

Bogenschutz, Michael P

2013-03-01

Recent developments in the study of classic hallucinogens, combined with a re-appraisal of the older literature, have led to a renewal of interest in possible therapeutic applications for these drugs, notably their application in the treatment of addictions. This article will first provide a brief review of the research literature providing direct and indirect support for the possible therapeutic effects of classic hallucinogens such as psilocybin and lysergic acid diethylamide (LSD) in the treatment of addictions. Having provided a rationale for clinical investigation in this area, we discuss design issues in clinical trials using classic hallucinogens, some of which are unique to this class of drug. We then discuss the current status of this field of research and design considerations in future randomized trials.

Does an alteration of dialyzer design and geometry affect biocompatibility parameters?

PubMed

Opatrný, Karel; Krouzzecký, Ales; Polanská, Kamila; Mares, Jan; Tomsů, Martina; Bowry, Sudhir K; Vienken, Jörg

2006-04-01

The aim of the study was to assess the biocompatibility profile of a newly developed high-flux polysulfone dialyzer type (FX-class dialyzer). The new class of dialyzers incorporates a number of novel design features (including a new membrane) that have been developed specifically in order to enhance the removal of small- and middle-size molecules. The new FX dialyzer series was compared with the classical routinely used high-flux polysulfone F series of dialyzers. In an open prospective, randomized, crossover clinical study, concentrations of the C5a complement component, and leukocyte count in blood and various thrombogenicity parameters were evaluated before, and at 15 and 60 min of hemodialysis at both dialyzer inlet and outlet in 9 long-term hemodialysis patients using the FX60S dialyzers and, after crossover, the classical F60S, while in another 9 patients, the evaluation was made with the dialyzers used in reverse order. The comparison of dialyzers based on evaluation of the group including all procedures with the FX60S and the group including procedures with the F60S did not reveal significant differences in platelet count, activated partial thromboplastin times, plasma heparin levels, platelet factor-4, D-dimer, C5a, and leukocyte count at any point of the collecting period. Both dialyzer types showed a significant increase in the plasma levels of the thrombin-antithrombin III complexes; however, the measured levels were only slightly elevated compared with the upper end of the normal range. Biocompatibility parameters reflecting the behavior of platelets, fibrinolysis, complement activation, and leukopenia do not differ during dialysis with either the FX60S or the F60S despite their large differences in design and geometry features. Although coagulation activation, as evaluated by one of the parameters used, was slightly higher with the FX60S, it was still within the range seen with other highly biocompatible dialyzers and therefore is not indicative of any appreciable activation of the coagulation system. Thus, the incorporation of various performance-enhancing design features into the new FX class of dialyzers does not result in a deterioration of their biocompatibility profile, which is comparable to that of the classical F series of dialyzers.

Retrospective study of intravascular large B-cell lymphoma cases diagnosed in Quebec: A retrospective study of 29 case reports.

PubMed

Brunet, Vanessa; Marouan, Sofia; Routy, Jean-Pierre; Hashem, Mohamed Amin; Bernier, Vincent; Simard, Raynald; Petrella, Tony; Lamarre, Louis; Théorêt, Gilles; Carrier, Christian; Knecht, Hans; Fleury, Isabelle; Pavic, Michel

2017-02-01

Intravascular large B-cell lymphoma (IVL) is an extremely rare malignancy, mainly studied through European and Asian series. Due to the low incidence of this condition, our understanding of the clinical presentation as well as the management of IVL relies on a limited number of patients.We report the largest North American study to date on IVL with 29 cases from Quebec hospital diagnosed between 1990 and 2016. The aim of our study is to describe the clinical presentations, diagnostic and staging procedures, therapeutic management and clinical outcomes of IVL patients in our population and compare the disease phenotype to European and Asian series reported.In our cohort, all patients had stage IV IVL at diagnosis, with a median age of 66.7 years (range 47.2-90.8). Clinical presentation was characterized by constitutional symptoms (100%), poor ECOG-PS (100% ≥ 2), cytopenias (93% anemia), and elevated lactate dehydrogenase (97%) and C-reactive protein (96%). Our cohort presented with mainly cutaneous and neurological symptoms. However, neurological involvement (75.9%) was predominant and no "cutaneous variant" was observed; this differs from European literature, where "classical" IVL is reported with mainly cutaneous involvement. Two of our Caucasian patients presented "Asian variant" IVL; this observation is not unusual, as cases of "classical" IVL have been reported in Asians and "Asian variant" IVL has been reported in Europeans. All patients were classified according to their immunophenotypic features in 3 different subgroups (CD5 or CD5CD10, CD5CD10, CD5CD10) with no difference in outcome. Finally, 62% of our cohort received anthracycline-based chemotherapy and 53% of them achieved a complete response. After a median follow-up of 328 days, OS at 3 years was 42.7% for the entire cohort and 47.4% for the cases with in vivo diagnosis. Unlike European studies on "classical" IVL, our study showed that the French Canadian presentation of this subtype of IVL is more frequently observed with neurological rather than cutaneous involvement. Finally, an early diagnosis is of primary importance since almost a quarter of patients receive a post-mortem diagnosis. A prompt diagnosis allows the introduction of an early treatment, associated with a CR in 53% of patients.

Lemierre's Syndrome – A rare cause of disseminated sepsis requiring multi-organ support

PubMed Central

Misselbrook, Katie

2017-01-01

Lemierre's syndrome is a rare complication of acute pharyngitis characterised by septicaemia with infective thrombophlebitis of the internal jugular vein, most commonly due to Fusobacterium necrophorum. It characteristically affects healthy young adults causing persistent pyrexia and systemic sepsis presenting several days after an initial pharyngitis. Septic emboli seed via the bloodstream to distant sites including the lung, joints, skin, liver, spleen and brain. Prolonged antimicrobial therapy is required and admission to intensive care common. This once rare condition is increasing in incidence but awareness amongst clinicians is low. We present a classic case in a young man who developed multi-organ failure requiring intensive care support and describe the epidemiology, pathophysiology, microbiology, clinical features and management of the disease. PMID:29123565

Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.

PubMed

Bastug, Funda; Nalcacioglu, Hulya; Ozaltin, Fatih; Korkmaz, Emine; Yel, Sibel

2018-01-01

Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome. Bartter-like presentation may lead to delay in diagnosis and initiation of specific treatment for cystinosis. We report a case of a 6-year-old girl initially presenting with the features of Bartter syndrome that was diagnosed 2 years later with nephropathic cystinosis and a novel CTNS mutation.

Disease-Related Detection with Electrochemical Biosensors: A Review.

PubMed

Huang, Ying; Xu, Jin; Liu, Junjie; Wang, Xiangyang; Chen, Bin

2017-10-17

Rapid diagnosis of diseases at their initial stage is critical for effective clinical outcomes and promotes general public health. Classical in vitro diagnostics require centralized laboratories, tedious work and large, expensive devices. In recent years, numerous electrochemical biosensors have been developed and proposed for detection of various diseases based on specific biomarkers taking advantage of their features, including sensitivity, selectivity, low cost and rapid response. This article reviews research trends in disease-related detection with electrochemical biosensors. Focus has been placed on the immobilization mechanism of electrochemical biosensors, and the techniques and materials used for the fabrication of biosensors are introduced in details. Various biomolecules used for different diseases have been listed. Besides, the advances and challenges of using electrochemical biosensors for disease-related applications are discussed.

Detailed modeling of local anisotropy and transverse Ku interplay regarding hysteresis loop in FeCuNbSiB nanocrystalline ribbons

NASA Astrophysics Data System (ADS)

Geoffroy, Olivier; Boust, Nicolas; Chazal, Hervé; Flury, Sébastien; Roudet, James

2018-04-01

This article focuses on the modeling of the hysteresis loop featured by Fe-Cu-Nb-Si-B nanocrystalline alloys with transverse induced anisotropy. The magnetization reversal process of a magnetic correlated volume (CV), characterized by the induced anisotropy Ku, and a deviation of the local easy magnetization direction featuring the effect of a local incoherent anisotropy Ki, is analyzed, taking account of magnetostatic interactions. Solving the equations shows that considering a unique typical kind of CV does not enable accounting for both the domain pattern and the coercivity. Actually, the classical majority CVs obeying the random anisotropy model explains well the domain pattern but considering another kind of CVs, minority, mingled with classical ones, featuring a magnitude of Ki comparable to Ku, is necessary to account for coercivity. The model has been successfully compared with experimental data.

Human toxocariasis: diagnosis, worldwide seroprevalences and clinical expression of the systemic and ocular forms.

PubMed

Rubinsky-Elefant, G; Hirata, C E; Yamamoto, J H; Ferreira, M U

2010-01-01

Although human toxocariasis ranks among the most common zoonotic infections worldwide, it remains relatively unknown to the public. The causal agents are the nematode parasites Toxocara canis and T. cati, whose definitive hosts are dogs and cats, respectively. When embryonated eggs are accidentally ingested by humans, larvae hatch in the small intestine, penetrate the intestinal wall and migrate, via the bloodstream, to the liver, lungs, muscles, eye and central nervous system. Although most human infections are asymptomatic, two well-defined clinical syndromes are classically recognised: visceral larva migrans (a systemic disease caused by larval migration through major organs) and ocular larva migrans (a disease limited to the eyes and optic nerves). Two less-severe syndromes have recently been described, one mainly in children (covert toxocariasis) and the other mainly in adults (common toxocariasis). Here, the current laboratory diagnosis, epidemiology and main clinical features of both the systemic and ocular forms of human toxocariasis are reviewed. New developments in serological diagnosis are described, the available seroprevalence data are analysed, and the results of relevant clinical studies that have been published over the last decade are explored, to provide an updated overview of this neglected but highly prevalent human infection.

Motor neuronopathy with dropped hands and downbeat nystagmus: a distinctive disorder? A case report.

PubMed

Thakore, Nimish J; Pioro, Erik P; Rucker, Janet C; Leigh, R John

2006-01-12

Eye movements are clinically normal in most patients with motor neuron disorders until late in the disease course. Rare patients are reported to show slow vertical saccades, impaired smooth pursuit, and gaze-evoked nystagmus. We report clinical and oculomotor findings in three patients with motor neuronopathy and downbeat nystagmus, a classic sign of vestibulocerebellar disease. All patients had clinical and electrodiagnostic features of anterior horn cell disease. Involvement of finger and wrist extensors predominated, causing finger and wrist drop. Bulbar or respiratory dysfunction did not occur. All three had clinically evident downbeat nystagmus worse on lateral and downgaze, confirmed on eye movement recordings using the magnetic search coil technique in two patients. Additional oculomotor findings included alternating skew deviation and intermittent horizontal saccadic oscillations, in one patient each. One patient had mild cerebellar atrophy, while the other two had no cerebellar or brainstem abnormality on neuroimaging. The disorder is slowly progressive, with survival up to 30 years from the time of onset. The combination of motor neuronopathy, characterized by early and prominent wrist and finger extensor weakness, and downbeat nystagmus with or without other cerebellar eye movement abnormalities may represent a novel motor neuron syndrome.

Motor neuronopathy with dropped hands and downbeat nystagmus: A distinctive disorder? A case report

PubMed Central

Thakore, Nimish J; Pioro, Erik P; Rucker, Janet C; Leigh, R John

2006-01-01

Background Eye movements are clinically normal in most patients with motor neuron disorders until late in the disease course. Rare patients are reported to show slow vertical saccades, impaired smooth pursuit, and gaze-evoked nystagmus. We report clinical and oculomotor findings in three patients with motor neuronopathy and downbeat nystagmus, a classic sign of vestibulocerebellar disease. Case presentation All patients had clinical and electrodiagnostic features of anterior horn cell disease. Involvement of finger and wrist extensors predominated, causing finger and wrist drop. Bulbar or respiratory dysfunction did not occur. All three had clinically evident downbeat nystagmus worse on lateral and downgaze, confirmed on eye movement recordings using the magnetic search coil technique in two patients. Additional oculomotor findings included alternating skew deviation and intermittent horizontal saccadic oscillations, in one patient each. One patient had mild cerebellar atrophy, while the other two had no cerebellar or brainstem abnormality on neuroimaging. The disorder is slowly progressive, with survival up to 30 years from the time of onset. Conclusion The combination of motor neuronopathy, characterized by early and prominent wrist and finger extensor weakness, and downbeat nystagmus with or without other cerebellar eye movement abnormalities may represent a novel motor neuron syndrome. PMID:16409626

[Clinical features and prognostic factors of meningococcal disease: a case series study in Chile during the 2012-2013 outbreak].

PubMed

Matute, Isabel; Olea, Andrea; López, Darío; Loayza, Sergio; Nájera, Manuel; González, Claudia; Poffald, Lucy; Hirmas, Macarena; Delgado, Iris; Pedroni, Elena; Alfaro, Tania; Gormaz, Ana María; Sanhueza, Gabriel; Vial, Pablo; Dabanch, Jeannette; Gallegos, Doris; Aguilera, Ximena

2015-10-01

Meningococcal disease (MD) is a major global problem because of its case fatality rate and sequels. Since 2012 cases of serogroup W have increased in Chile, with nonspecific clinical presentation, high case fatality rate and serious consequences. To characterize the evolution and outcome of MD cases between January 2012 and March 2013 in Chile. Case series considering 149 MD cases of 7 regions. A questionnaire was applied and clinical records were reviewed, including individual, agent, clinical course and healthcare process variables. The analysis allowed to obtain estimates of the OR as likelihood of dying. 51.5% was meningococcemia, the case fatality rate reached 27%, prevailing serogroup W (46.6%). Factors that increased the probability of dying: > age, belonging to indigenous people, having lived a stressful event, having diarrhea, impaired consciousness, cardiovascular symptoms, low oxygen saturation and low Glasgow coma scale score. The case fatality rate exceeded normal levels and was higher in serogroup W. Increasing in this serogroup, associated to the increased presence of nonspecific symptoms or rapid progression to septicemia, hit a health system accustomed to more classic meningococcal disease presentation, which could partly explain the observed increased fatality rate.

The structure of lifetime manic-hypomanic spectrum.

PubMed

Cassano, G B; Mula, M; Rucci, P; Miniati, M; Frank, E; Kupfer, D J; Oppo, A; Calugi, S; Maggi, L; Gibbons, R; Fagiolini, A

2009-01-01

The observation that bipolar disorders frequently go unrecognized has prompted the development of screening instruments designed to improve the identification of bipolarity in clinical and non-clinical samples. Starting from a lifetime approach, researchers of the Spectrum Project developed the Mood Spectrum Self-Report (MOODS-SR) that assesses threshold-level manifestations of unipolar and bipolar mood psychopathology, but also atypical symptoms, behavioral traits and temperamental features. The aim of the present study is to examine the structure of mania/hypomania using 68 items of the MOODS-SR that explore cognitive, mood and energy/activity features associated with mania/hypomania. A data pool of 617 patients with bipolar disorders, recruited at Pittsburgh and Pisa, Italy was used for this purpose. Classical exploratory factor analysis, based on a tetrachoric matrix, was carried out on the 68 items, followed by an Item Response Theory (IRT)-based factor analytic approach. Nine factors were initially identified, that include Psychomotor Activation, Creativity, Mixed Instability, Sociability/Extraversion, Spirituality/Mysticism/Psychoticism, Mixed Irritability, Inflated Self-esteem, Euphoria, Wastefulness/Recklessness, and account overall for 56.4% of the variance of items. In a subsequent IRT-based bi-factor analysis, only five of them (Psychomotor Activation, Mixed Instability, Spirituality/Mysticism/Psychoticism, Mixed Irritability, Euphoria) were retained. Our data confirm the central role of Psychomotor Activation in mania/hypomania and support the definitions of pure manic (Psychomotor Activation and Euphoria) and mixed manic (Mixed Instability and Mixed Irritability) components, bearing the opportunity to identify patients with specific profiles for a better clinical and neurobiological definition.

Goldenhar syndrome with unusual features.

PubMed

Mehta, Bijal; Nayak, Chitra; Savant, Shankar; Amladi, Sangeeta

2008-01-01

We report here the case of a 17 year-old girl with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia) and cervical lordosis. She also had a high arched palate, gingival hypertrophy and malaligned teeth, features which are as yet unreported.

TEN MASTER TEACHER AND PROGRAM AWARD PROGRAMS.

ERIC Educational Resources Information Center

KOVACH, EDITH M.A.

IN 1966 THE AMERICAN CLASSICAL LEAGUE HONORED THREE TEACHERS WITH ITS MASTER SECONDARY SCHOOL LATIN TEACHER AND PROGRAM AWARD. AMONG THE 32 PROGRAMS CITED FOR RECOGNITION, TEN (INCLUDING THOSE OF THE AWARD WINNERS) POSSESS CLEARLY INNOVATIVE FEATURES. IN BRIEF THEY FEATURE (1) A FIFTH YEAR ADVANCED PLACEMENT PROGRAM, LATIN AS INTRODUCTORY TO…

Weaving Webs of Intrigue: Classical Mythology and Analytic Crime Fiction in Rubem Fonseca's "A grande arte"

ERIC Educational Resources Information Center

Ginway, M. Elizabeth

2013-01-01

This study focuses on some of the classical features of Rubem Fonseca's "A grande arte" (1983) in order to emphasize the puzzle-solving tradition of the detective novel that is embedded within Fonseca's crime thriller, producing a work that does not entirely fit into traditional divisions of detective, hardboiled, or crime…

Coherent Ising machines—optical neural networks operating at the quantum limit

NASA Astrophysics Data System (ADS)

Yamamoto, Yoshihisa; Aihara, Kazuyuki; Leleu, Timothee; Kawarabayashi, Ken-ichi; Kako, Satoshi; Fejer, Martin; Inoue, Kyo; Takesue, Hiroki

2017-12-01

In this article, we will introduce the basic concept and the quantum feature of a novel computing system, coherent Ising machines, and describe their theoretical and experimental performance. We start with the discussion how to construct such physical devices as the quantum analog of classical neuron and synapse, and end with the performance comparison against various classical neural networks implemented in CPU and supercomputers.

Comprehensive genomic profiling reveals inactivating SMARCA4 mutations and low tumor mutational burden in small cell carcinoma of the ovary, hypercalcemic-type.

PubMed

Lin, Douglas I; Chudnovsky, Yakov; Duggan, Bridget; Zajchowski, Deborah; Greenbowe, Joel; Ross, Jeffrey S; Gay, Laurie M; Ali, Siraj M; Elvin, Julia A

2017-12-01

Small cell carcinoma of the ovary, hypercalcemic-type (SCCOHT) is a rare, extremely aggressive neoplasm that usually occurs in young women and is characterized by deleterious germline or somatic SMARCA4 mutations. We performed comprehensive genomic profiling (CGP) to potentially identify additional clinically and pathophysiologically relevant genomic alterations in SCCOHT. CGP assessment of all classes of coding alterations in up to 406 genes commonly altered in cancer and intronic regions for up to 31 genes commonly rearranged in cancer was performed on 18 SCCOHT cases (16 exhibiting classic morphology and 2 cases exhibiting exclusive a large cell variant morphology). In addition, a retrospective database search for clinically advanced ovarian tumors with genomic profiles similar to SCCOHT yielded 3 additional cases originally diagnosed as non-SCCOHT. CGP revealed inactivating SMARCA4 alterations and low tumor mutational burden (TMB) (<6mutations/Mb) in 94% (15/16) of SCCOHT with classic morphology. In contrast, both (2/2) cases exhibiting only large cell variant morphology were hypermutated (TMB scores of 90 and 360mut/Mb) and were wildtype for SMARCA4. In our retrospective search, an index ovarian cancer patient harboring inactivating SMARCA4 alterations, initially diagnosed as endometrioid carcinoma, was re-classified as SCCOHT and responded to an SCCOHT chemotherapy regimen. The vast majority of SCCOHT demonstrate genomic SMARCA4 loss with only rare co-occurring alterations. Our data support a role for CGP in the diagnosis and management of SCCOHT and of other lesions with overlapping histological and clinical features, since identifying the former by genomic profile suggests benefit from an appropriate regimen and treatment decisions, as illustrated by an index patient. Copyright © 2017 Elsevier Inc. All rights reserved.

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.

PubMed

Trender-Gerhard, I; Sweeney, M G; Schwingenschuh, P; Mir, P; Edwards, M J; Gerhard, A; Polke, J M; Hanna, M G; Davis, M B; Wood, N W; Bhatia, K P

2009-08-01

An autosomal dominantly inherited defect in the GCH1 gene that encodes guanosine triphosphate cyclohydrolase 1 (GTPCH1) is the most common cause of dopa-responsive dystonia (DRD). A classic phenotype of young-onset lower-limb dystonia, diurnal fluctuations and excellent response to levodopa has been well recognised in association with GCH1 mutations, and rare atypical presentations have been reported. However, a number of clinical issues remain unresolved including phenotypic variability, long-term response to levodopa and associated non-motor symptoms, and there are limited data on long-term follow-up of genetically proven cases. A detailed clinical evaluation of 34 patients (19 women, 15 men), with confirmed mutations in the GCH1 gene, is presented. The classic phenotype was most frequent (n = 23), with female predominance (F:M = 16:7), and early onset (mean 4.5 years) with involvement of legs. However, a surprisingly large number of patients developed craniocervical dystonia, with spasmodic dysphonia being the predominant symptom in two subjects. A subset of patients, mainly men, presented with either a young-onset (mean 6.8 years) mild DRD variant not requiring treatment (n = 4), or with an adult-onset (mean 37 years) Parkinson disease-like phenotype (n = 4). Two siblings were severely affected with early hypotonia and delay in motor development, associated with compound heterozygous GCH1 gene mutations. The study also describes a number of supplementary features including restless-legs-like symptoms, influence of female sex hormones, predominance of tremor or parkinsonism in adult-onset cases, initial reverse reaction to levodopa, recurrent episodes of depressive disorder and specific levodopa-resistant symptoms (writer's cramp, dysphonia, truncal dystonia). Levodopa was used effectively and safely in 20 pregnancies, and did not cause any fetal abnormalities.

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

Bunakov, V. E., E-mail: bunakov@VB13190.spb.edu

A critical analysis of the present-day concept of chaos in quantum systems as nothing but a “quantum signature” of chaos in classical mechanics is given. In contrast to the existing semi-intuitive guesses, a definition of classical and quantum chaos is proposed on the basis of the Liouville–Arnold theorem: a quantum chaotic system featuring N degrees of freedom should have M < N independent first integrals of motion (good quantum numbers) specified by the symmetry of the Hamiltonian of the system. Quantitative measures of quantum chaos that, in the classical limit, go over to the Lyapunov exponent and the classical stabilitymore » parameter are proposed. The proposed criteria of quantum chaos are applied to solving standard problems of modern dynamical chaos theory.« less

Ground-state candidate for the classical dipolar kagome Ising antiferromagnet

NASA Astrophysics Data System (ADS)

Chioar, I. A.; Rougemaille, N.; Canals, B.

2016-06-01

We have investigated the low-temperature thermodynamic properties of the classical dipolar kagome Ising antiferromagnet using Monte Carlo simulations, in the quest for the ground-state manifold. In spite of the limitations of a single-spin-flip approach, we managed to identify certain ordering patterns in the low-temperature regime and we propose a candidate for this unknown state. This configuration presents some intriguing features and is fully compatible with the extrapolations of the at-equilibrium thermodynamic behavior sampled so far, making it a very likely choice for the dipolar long-range ordered state of the classical kagome Ising antiferromagnet.

Follicular patterned lesions of the thyroid gland: a practical algorithmic approach.

PubMed

Chetty, Runjan

2011-09-01

Follicular patterned lesions of the thyroid are problematic and interpretation is often subjective. While thyroid experts are comfortable with their own criteria and thresholds, those encountering these lesions sporadically have a degree of uncertainty with a proportion of cases. The purpose of this review is to highlight the importance of proper diligent sampling of an encapsulated thyroid lesion (in totality in many cases), examination for capsular and vascular invasion, and finally the assessment of nuclear changes that are pathognomonic of papillary thyroid carcinoma (PTC). Based on these established criteria, an algorithmic approach is suggested using known, accepted terminology. The importance of unequivocal, clear-cut nuclear features of PTC as opposed to inconclusive features is stressed. If the nuclear features in an encapsulated, non-invasive follicular patterned lesion fall short of those encountered in classical PTC, but nonetheless are still worrying or concerning, the term 'uncertain malignant potential or behaviour, most likely benign' is suggested. Indubitable, classical PTC nuclei (whether diffuse or restricted to a single high-power field) are diagnostic of a PTC be it classical, non-invasive or invasive follicular variant PTC. Capsular and vascular invasion remain the only reliable predictors of outcome, as non-invasive, encapsulated follicular variant PTC, even with diffuse PTC nuclear change, behaves in an indolent fashion.

Melorheostosis: a Rare Sclerosing Bone Dysplasia.

PubMed

Kotwal, Anupam; Clarke, Bart L

2017-08-01

Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition. Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series. Melorheostosis affects the appendicular skeleton more commonly than the axial skeleton and usually presents with lower limb deformity. Diagnosis is based on a combination of clinical and radiological features that help differentiate this condition from other sclerosing bone dysplasias. LEM domain-containing protein 3 (LEMD3) gene mutations have been demonstrated in several familial cases, but these have been more strongly correlated with other hereditary dysplasias, such as osteopoikilosis, and are not thought to be the causative gene for melorheostosis. The exact etiology of classic sporadically occurring melorheostosis remains unknown, with possible causes being somatic LEMD3 mutations, somatic mutations in the bone morphogenetic protein/transforming growth factor-beta pathway, mutations in multiple genes, or other non-genetic causes. Management in recent years has involved nitrogen-containing bisphosphonates in addition to traditional orthopedic surgical approaches and physical therapy. Melorheostosis may present as mixed or atypical osseous involvement in addition to the classically described "dripping candle wax" appearance of hyperostosis. Some patients may have overlap with osteopoikilosis or Buschke-Ollendorff syndrome. In the future, better characterization of genetic and developmental factors predisposing to melorheostosis may lead to the development of targeted therapy for this condition, as well as for more commonly encountered skeletal abnormalities.

The Genome of a Bacillus Isolate Causing Anthrax in Chimpanzees Combines Chromosomal Properties of B. cereus with B. anthracis Virulence Plasmids

PubMed Central

Nattermann, Herbert; Brüggemann, Holger; Dupke, Susann; Wollherr, Antje; Franz, Tatjana; Pauli, Georg; Appel, Bernd; Liebl, Wolfgang; Couacy-Hymann, Emmanuel; Boesch, Christophe; Meyer, Frauke-Dorothee; Leendertz, Fabian H.; Ellerbrok, Heinz; Gottschalk, Gerhard; Grunow, Roland; Liesegang, Heiko

2010-01-01

Anthrax is a fatal disease caused by strains of Bacillus anthracis. Members of this monophyletic species are non motile and are all characterized by the presence of four prophages and a nonsense mutation in the plcR regulator gene. Here we report the complete genome sequence of a Bacillus strain isolated from a chimpanzee that had died with clinical symptoms of anthrax. Unlike classic B. anthracis, this strain was motile and lacked the four prohages and the nonsense mutation. Four replicons were identified, a chromosome and three plasmids. Comparative genome analysis revealed that the chromosome resembles those of non-B. anthracis members of the Bacillus cereus group, whereas two plasmids were identical to the anthrax virulence plasmids pXO1 and pXO2. The function of the newly discovered third plasmid with a length of 14 kbp is unknown. A detailed comparison of genomic loci encoding key features confirmed a higher similarity to B. thuringiensis serovar konkukian strain 97-27 and B. cereus E33L than to B. anthracis strains. For the first time we describe the sequence of an anthrax causing bacterium possessing both anthrax plasmids that apparently does not belong to the monophyletic group of all so far known B. anthracis strains and that differs in important diagnostic features. The data suggest that this bacterium has evolved from a B. cereus strain independently from the classic B. anthracis strains and established a B. anthracis lifestyle. Therefore we suggest to designate this isolate as “B. cereus variety (var.) anthracis”. PMID:20634886

Case report: severe melorheostosis involving the ipsilateral extremities.

PubMed

Long, Hai-Tao; Li, Kang-Hua; Zhu, Yong

2009-10-01

Melorheostosis is a rare, noninheritable bone dysplasia characterized by its classic radiographic feature of flowing hyperostosis resembling dripping candle wax, generally on one side of the long bone. The condition originally was described by Leri and Joanny in 1922. Its etiology remains speculative, and treatment in most instances has been symptomatic. Melorheostosis usually affects one limb, more often the lower extremity, and rarely the axial skeleton. We report a rare case of severe melorheostosis in the ipsilateral upper and lower extremities with normal contralateral extremities. The plain radiographs revealed almost all the bones in the affected extremities, from clavicle and scapula to distal phalanges of the fingers and from femur to distal phalanges of the toes, presented extensive, dense hyperostosis and heterotopic ossification in the periarticular soft tissue. Physical examination showed considerable swelling and deformities of the left limbs, stiffness and distortion of the joints, and anesthesia in the left ulnar regions of the forearm and hand. The examination of the right side was normal. Computed tomography scans showed multiple areas of classic candle wax-like hyperostosis and narrowing or disappearance of the medullary cavity. Histologic analysis confirmed the clinical and imaging diagnosis and revealed extremely dense sclerotic bone of cortical pattern.

High expression of DNA methyltransferases in primary human medulloblastoma.

PubMed

Pócza, T; Krenács, T; Turányi, E; Csáthy, J; Jakab, Z; Hauser, P

2016-01-01

Epigenetic alterations have been implicated in cancer development. DNA methylation modulates gene expression, which is catalyzed by DNA methyltransferases (DNMTs). The objective of our study was to evaluate expression of DNMTs in medulloblastoma and analyze its correlation with clinical features. Nuclear expression of DNMT1, DNMT3A and DNMT3B was analyzed in human primary medulloblastoma of 44 patients using immunohistochemistry. Correlation of expression of DNMT levels with classical histological subtypes, novel molecular subgroups and survival of patients was analyzed. Elevated expression of DNMT1, DNMT3A and DNMT3B was observed in 63.64%, 68.18% and 72.73% of all cases, respectively. None of them showed a correlation with classical histology or survival. Concerning molecular subtypes, significantly higher expression of DNMT1 was observed in the SHH group compared to non-SHH samples (p = 0.02), but without significant difference in DNMT3A or DNMT3B levels between any subtypes. In conclusion, DNMT1, DNMT3A and DNMT3B are highly expressed in human medulloblastoma samples, suggesting that promoter hypermethylation may play a role in medulloblastoma development. Demethylation of tumor suppressor gene promoters may be considered as a possible future target in therapy of medulloblastoma.

Non-classicality of the molecular vibrations assisting exciton energy transfer at room temperature

PubMed Central

O’Reilly, Edward J.; Olaya-Castro, Alexandra

2014-01-01

Advancing the debate on quantum effects in light-initiated reactions in biology requires clear identification of non-classical features that these processes can exhibit and utilize. Here we show that in prototype dimers present in a variety of photosynthetic antennae, efficient vibration-assisted energy transfer in the sub-picosecond timescale and at room temperature can manifest and benefit from non-classical fluctuations of collective pigment motions. Non-classicality of initially thermalized vibrations is induced via coherent exciton–vibration interactions and is unambiguously indicated by negativities in the phase–space quasi-probability distribution of the effective collective mode coupled to the electronic dynamics. These quantum effects can be prompted upon incoherent input of excitation. Our results therefore suggest that investigation of the non-classical properties of vibrational motions assisting excitation and charge transport, photoreception and chemical sensing processes could be a touchstone for revealing a role for non-trivial quantum phenomena in biology. PMID:24402469

Viral-associated lymphoid proliferations☆

PubMed Central

Pittaluga, Stefania

2013-01-01

The histological spectrum of viral-associated lymphoid proliferations is quite broad, ranging from reactive lymphadenitis to atypical proliferations mimicking classical Hodgkin lymphoma or non-Hodgkin lymphoma. Virally associated reactive lesions can appear quite alarming on histological examination, because of direct (cytopathic) and indirect viral-induced changes eliciting a polymorphic cellular host response. In addition, the atypical lymphoid proliferation may show aberrant phenotypic features as well as restricted/clonal gene immunoglobulin or T-cell receptor rearrangements, further complicating the interpretation. In order to achieve an accurate diagnosis, it is important to be aware of the clinical history, including family history and ethnic background, clinical presentation, symptoms, and extent of the disease. Among the clinical data, particular emphasis should be placed on serology and viral load studies, and the use of immunosuppressive drugs. The clinical course and outcome vary greatly, from an indolent, self-limited to aggressive clinical course, blurring at times the distinction between neoplastic and reactive proliferations. It is now recognized that immunosenescence also plays a significant role in the development of these viral-associated lymphoid proliferations, and new entities have been described in recent years. In this review we discuss mostly Epstein–Barr virus-associated viral proliferations that may be confused with lymphomas, which the practicing pathologist may encounter. PMID:23537914

A Complex Multiherbal Regimen Based on Ayurveda Medicine for the Management of Hepatic Cirrhosis Complicated by Ascites: Nonrandomized, Uncontrolled, Single Group, Open-Label Observational Clinical Study.

PubMed

Patel, Manish V; Patel, Kalapi B; Gupta, Shivenarain; Michalsen, Andreas; Stapelfeldt, Elmar; Kessler, Christian S

2015-01-01

Hepatic cirrhosis is one of the leading causes of death worldwide, especially if complicated by ascites. This chronic condition can be related to the classical disease entity jalodara in Traditional Indian Medicine (Ayurveda). The present paper aims to evaluate the general potential of Ayurvedic therapy for overall clinical outcomes in hepatic cirrhosis complicated by ascites (HCcA). In form of a nonrandomized, uncontrolled, single group, open-label observational clinical study, 56 patients fulfilling standardized diagnostic criteria for HCcA were observed during their treatment at the P. D. Patel Ayurveda Hospital, Nadiad, India. Based on Ayurvedic tradition, a standardized treatment protocol was developed and implemented, consisting of oral administration of single and compound herbal preparations combined with purificatory measures as well as dietary and lifestyle regimens. The outcomes were assessed by measuring liver functions through specific clinical features and laboratory parameters and by evaluating the Child-Pugh prognostic grade score. After 6 weeks of treatment and a follow-up period of 18 weeks, the outcomes showed statistically significant and clinically relevant improvements. Further larger and randomized trials on effectiveness, safety, and quality of the Ayurvedic approach in the treatment of HCcA are warranted to support these preliminary findings.

Differential IL-1β secretion by monocyte subsets is regulated by Hsp27 through modulating mRNA stability.

PubMed

Hadadi, Eva; Zhang, Biyan; Baidžajevas, Kajus; Yusof, Nurhashikin; Puan, Kia Joo; Ong, Siew Min; Yeap, Wei Hseun; Rotzschke, Olaf; Kiss-Toth, Endre; Wilson, Heather; Wong, Siew Cheng

2016-12-15

Monocytes play a central role in regulating inflammation in response to infection or injury, and during auto-inflammatory diseases. Human blood contains classical, intermediate and non-classical monocyte subsets that each express characteristic patterns of cell surface CD16 and CD14; each subset also has specific functional properties, but the mechanisms underlying many of their distinctive features are undefined. Of particular interest is how monocyte subsets regulate secretion of the apical pro-inflammatory cytokine IL-1β, which is central to the initiation of immune responses but is also implicated in the pathology of various auto-immune/auto-inflammatory conditions. Here we show that primary human non-classical monocytes, exposed to LPS or LPS + BzATP (3'-O-(4-benzoyl)benzyl-ATP, a P2X7R agonist), produce approx. 80% less IL-1β than intermediate or classical monocytes. Despite their low CD14 expression, LPS-sensing, caspase-1 activation and P2X7R activity were comparable in non-classical monocytes to other subsets: their diminished ability to produce IL-1β instead arose from 50% increased IL-1β mRNA decay rates, mediated by Hsp27. These findings identify the Hsp27 pathway as a novel therapeutic target for the management of conditions featuring dysregulated IL-1β production, and represent an advancement in understanding of both physiological inflammatory responses and the pathogenesis of inflammatory diseases involving monocyte-derived IL-1β.

[Scimitar syndrome: a case series].

PubMed

Jaramillo González, Carlos; Karam Bechara, José; Sáenz Gómez, Jessica; Siegert Olivares, Augusto; Jamaica Balderas, Lourdes

Scimitar syndrome is a rare and complex congenital anomaly of the lung with multiple variables and is named for its resemblance to the classical radiological crooked sword. Its defining feature is the anomalous pulmonary drainage. It is associated with various cardiothoracic malformations and a wide spectrum of clinical manifestations. Nine patients diagnosed with scimitar syndrome found in the database of Hospital Infantil de México between 2009 and 2013 were reviewed. Demographic records, clinical status and hemodynamic parameters reported were collected. This case series called attention to certain differences between our group of patients and those reported in the international literature. Patients were predominantly female and were diagnosed between 1 and 20 months of life. All were asymptomatic at the time of the study. Half of the patients had a history of respiratory disease and all patients had with pulmonary hypertension. Surgical management was required in on-third of the patient group. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

On the Design of a CADS for Shoulder Pain Pathology

NASA Astrophysics Data System (ADS)

de Ipiña, K. López; Hernández, M. C.; Martínez, E.; Vaquero, C.

A musculoskeletal disorder is a condition of the musculoskeletal system, which consists in part of it being injured continuously over time. Shoulder disorders are one of the most common musculoskeletal cases attended in primary health care services. Shoulder disorders cause pain and limit the ability to perform many routine activities, affecting about 15-25 % of the general population. Several clinical tests have been described to aid diagnosis of shoulder disorders. However, the current literature acknowledges a lack of concordance in clinical assessment, even among musculoskeletal specialists. We are working on the design of a Computer-Aided Decision Support (CADS) system for Shoulder Pain Pathology. The paper presents the results of our efforts to build a CADS system testing several classical classification paradigms, feature reduction methods (PCA) and K-means unsupervised clustering. The small database size imposes the use of robust covariance matrix estimation methods to improve the system performance. Finally, the system was evaluated by a medical specialist.

Isolated unilateral cytomegalovirus retinitis: a rare long-term complication after pediatric liver transplantation.

PubMed

Squires, James E; Sisk, Robert A; Balistreri, William F; Kohli, Rohit

2013-02-01

To highlight the rare yet devastating complication of CMV retinitis in a minimally immunosuppressed patient eight yr after liver transplantation for biliary atresia. A 22-yr-old female status-post deceased donor liver transplant at age 13 secondary to biliary atresia receiving single agent immunosuppression presented with acute, unilateral, profound decrease in visual acuity. The patient was diagnosed to have acute onset unilateral CMV retinitis. Retinal examination uncovered classical appearance of retinal whitening and retinal hemorrhages with extensive macular involvement. CMV retinitis can occur as a late complication following liver transplantation. Additionally, CMV retinal disease can occur in the absence of laboratory evidence of CMV infection and independent of additional clinical features suggesting CMV disease. Currently, there is no standard of care regarding screening for CMV retinitis, and thus, further research is needed to define the need for potential changes in current clinical practices and post-transplant screening protocols. © 2012 John Wiley & Sons A/S.

Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research

PubMed Central

Cao, Binbin; Yan, Huifang; Guo, Mangmang; Xie, Han; Wu, Ye; Gu, Qiang; Xiao, Jiangxi; Shang, Jing; Yang, Yanling; Xiong, Hui; Niu, Zhengping; Wu, Xiru; Jiang, Yuwu; Wang, Jingmin

2016-01-01

Objective Megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare neurological deterioration disease. We aimed to clarify clinical and genetic features of Chinese MLC patients. Methods Clinical information and peripheral venous blood of 20 patients and their families were collected, Sanger-sequencing and Multiple Ligation-dependent Probe Amplification were performed to make genetic analysis. Splicing-site mutation was confirmed with RT-PCR. UPD was detected by haplotype analysis. Follow-up study was performed through telephone for 27 patients. Results Out of 20 patients, macrocephaly, classic MRI features, motor development delay and cognitive impairment were detected in 20(100%), 20(100%), 17(85%) and 4(20%) patients, respectively. 20(100%) were clinically diagnosed with MLC. 19(95%) were genetically diagnosed with 10 novel mutations in MLC1, MLC1 and GlialCAM mutations were identified in 15 and 4 patients, respectively. Deletion mutation from exon4 to exon9 and a homozygous point mutation due to maternal UPD of chromosome22 in MLC1 were found firstly. c.598-2A>C in MLC1 leads to the skip of exon8. c.772-1G>C in MLC1 accounting for 15.5%(9/58) alleles in Chinese patients might be a founder or a hot-spot mutation. Out of 27 patients in the follow-up study, head circumference was ranged from 56cm to 61cm in patients older than 5yeas old, with a median of 57cm. Motor development delay and cognitive impairment were detected in 22(81.5%) and 5(18.5%) patients, respectively. Motor and cognitive deterioration was found in 5 (18.5%) and 2 patients (7.4%), respectively. Improvements and MRI recovery were first found in Chinese patients. Rate of seizures (45.5%), transient motor retrogress (45.5%) and unconsciousness (13.6%) after head trauma was much higher than that after fever (18.2%, 9.1%, 0%, respectively). Significance It’s a clinical and genetic analysis and a follow-up study for largest sample of Chinese MLC patients, identifying 10 novel mutations, expanding mutation spectrums and discovering clinical features of Chinese MLC patients. PMID:27322623

Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation.

PubMed

Kopacek, Cristiane; Prado, Mayara J; da Silva, Claudia M D; de Castro, Simone M; Beltrão, Luciana A; Vargas, Paula R; Grandi, Tarciana; Rossetti, Maria L R; Spritzer, Poli Mara

2018-04-30

To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification. After 24 months, 15 classic congenital adrenal hyperplasia cases were diagnosed in a total of 217,965 newborns, with an estimated incidence of 1:14,531. From 132 patients, seven non-classical and 14 heterozygous patients were screened for CYP21A2 mutations, and 96 patients presented false positives with wild type CYP21A2. On retest, increased 17-hydroxyprogesterone levels were found in classical congenital adrenal hyperplasia patients and showed significant correlation with genotype-related classical genital adrenal hyperplasia. The most frequent mutations were IVS2-13A/C>G followed by gene deletion or rearrangement events in the classical form. In non-classical and heterozygous diseases, p.Val282Leu was the most common mutation. The results underscore the effectiveness of congenital adrenal hyperplasia neonatal screening in the public health system and indicate that the adopted strategy was appropriate. The second sample collection along with genotyping of suspected cases helped to properly diagnose both severe and milder cases and delineate them from false positive patients. Copyright © 2018. Published by Elsevier Editora Ltda.

Comprehensive study of the dynamics of a classical Kitaev Spin Liquid

NASA Astrophysics Data System (ADS)

Samarakoon, Anjana; Banerjee, Arnab; Batista, Cristian; Kamiya, Yoshitomo; Tennant, Alan; Nagler, Stephen

Quantum spin liquids (QSLs) have achieved great interest in both theoretical and experimental condensed matter physics due to their remarkable topological properties. Among many different candidates, the Kitaev model on the honeycomb lattice is a 2D prototypical QSL which can be experimentally studied in materials based on iridium or ruthenium.Here we study the spin-1/2 Kitaev model using classical Monte-Carlo and semiclassical spin dynamics of classical spins on a honeycomb lattice. Both real and reciprocal space pictures highlighting the differences and similarities of the results to the linear spin wave theory will be discussed in terms dispersion relations of the pure-Kitaev limit and beyond. Interestingly, this technique could capture some of the salient features of the exact quantum solution of the Kitaev model, such as features resembling the Majorana-like mode comparable to the Kitaev energy, which is spectrally narrowed compared to the quantum result, can be explained by magnon excitations on fluctuating onedimensional manifolds (loops). Hence the difference from the classical limit to the quantum limit can be understood by the fractionalization of a magnon to Majorana fermions. The calculations will be directly compared with our neutron scattering data on α-RuCl3 which is a prime candidate for experimental realization of Kitaev physics.

Experimental Observation of Two Features Unexpected from the Classical Theories of Rubber Elasticity

NASA Astrophysics Data System (ADS)

Nishi, Kengo; Fujii, Kenta; Chung, Ung-il; Shibayama, Mitsuhiro; Sakai, Takamasa

2017-12-01

Although the elastic modulus of a Gaussian chain network is thought to be successfully described by classical theories of rubber elasticity, such as the affine and phantom models, verification experiments are largely lacking owing to difficulties in precisely controlling of the network structure. We prepared well-defined model polymer networks experimentally, and measured the elastic modulus G for a broad range of polymer concentrations and connectivity probabilities, p . In our experiment, we observed two features that were distinct from those predicted by classical theories. First, we observed the critical behavior G ˜|p -pc|1.95 near the sol-gel transition. This scaling law is different from the prediction of classical theories, but can be explained by analogy between the electric conductivity of resistor networks and the elasticity of polymer networks. Here, pc is the sol-gel transition point. Furthermore, we found that the experimental G -p relations in the region above C* did not follow the affine or phantom theories. Instead, all the G /G0-p curves fell onto a single master curve when G was normalized by the elastic modulus at p =1 , G0. We show that the effective medium approximation for Gaussian chain networks explains this master curve.

Athlete's foot and onychomycosis caused by Hendersonula toruloidea.

PubMed

Abramson, C

1990-08-01

Fungi other than the dermatophytes can cause infections of the foot, toes and toenails that simulate classic "athlete's foot." Unless diagnosed culturally and morphologically by the clinical laboratory, treatment failures may occur. The saprophyte Hendersonula toruloidea as well as other fungi and yeasts reported to cause such infections have been shown to be clinically indistinguishable from classic dermatophytic "athlete's foot." The clinical and laboratory diagnosis of these types of foot infections caused by Hendersonula toruloidea are described. Specific transport media required for laboratory diagnosis and therapeutic alternatives are reviewed.

The thermodynamics of bipolarity: a bifurcation model of bipolar illness and bipolar character and its psychotherapeutic applications.

PubMed

Sabelli, H C; Carlson-Sabelli, L; Javaid, J I

1990-11-01

Two models dominate current formulations of bipolar illness: the homeostatic model implicit in Freud's psychodynamics and most neuroamine deficit/excess theories; and the oscillatory model of exaggerated biological rhythms. The homeostatic model is based on the closed systems approach of classic thermodynamics, while the oscillatory model requires the open systems approach of modern thermodynamics. Here we present a thermodynamic model of bipolarity that includes both homeostatic and oscillatory features and adds the most important feature of open systems thermodynamics: the creation of novel structures in bifurcation processes. According to the proposed model, bipolarity is the result of exaggerated biological energy that augments homeostatic, oscillatory and creative psychological processes. Only low-energy closed systems tend to rest ("point attractor") and entropic disorder. Open processes containing and exchanging energy fluctuate between opposite states ("periodic attractors"); they are characteristic of most physiological rhythms and are exaggerated in bipolar subjects. At higher energies, their strong fluctuations destroy pre-existing patterns and structures, produce turbulence ("chaotic attractors"), which sudden switches between opposite states, and create new and more complex structures. Likewise, high-energy bipolars develop high spontaneity, great fluctuations between opposite moods, internal and interpersonal chaos, and enhanced creativity (personal, artistic, professional) as well as psychopathology (personality deviations, psychotic delusions). Offered here is a theoretical explanation of the dual--creative and destructive--nature of bipolarity in terms of the new enantiodromic concept of entropy generalized by process theory. Clinically, this article offers an integrative model of bipolarity that accounts for many clinical features and contributes to a definition of the bipolar personality.

The genetics of Hodgkin lymphoma: an overview and clinical implications.

PubMed

Borchmann, Sven; Engert, Andreas

2017-09-01

The goal of this review is to give an overview of the genetics of classical Hodgkin lymphoma. Copy number changes, somatic mutations, genome-wide association studies, changes in gene expression, familial classical Hodgkin lymphoma and epigenetic changes will be reviewed. In doing so, special focus is placed on the way recent discoveries have influenced clinical research, diagnostics, treatment and remission monitoring. Furthermore, emphasis is put on how these advances can help to advance the treatment of elderly patients who have a markedly worse prognosis than younger patients. Frequent amplifications of the 9p24.1 locus in classical Hodgkin lymphoma could be the basis for the success of immune checkpoint inhibitors targeting PD-1 or PD-L1 in this disease. The same amplification also affects the JAK/STAT pathway, which has also been targeted in recent clinical trials. Hodgkin lymphoma-specific copy number alterations and mutations have recently been found to be detectable in cell-free DNA. This could provide the basis for advances in the detection of residual disease during treatment and while monitoring patients in remission. The advent of new technologies such as massive parallel sequencing has improved our understanding of the genetics of classical Hodgkin lymphoma. Some of these discoveries are now being translated into clinical research in the form of new diagnostics and treatments.

Pastes: what do they contain? How do they work?

PubMed

Juch, R D; Rufli, T; Surber, C

1994-01-01

Pastes are semisolid stiff preparations containing a high proportion of finely powdered material. Powders such as zinc oxide, titanium dioxide, starch, kaolin or talc are incorporated in high concentrations into a preferably lipophilic, greasy vehicle. A clinically distinctive feature which is generally attributed to pastes is the quality to absorb exudates by nature of the powder or other absorptive components. Reviewing the various pharmacopoeias serious doubts arise from the various formulas of pastes and their absorptive features. The zinc oxide pastes of the USP XXII, the DAB 10 and BP 88 (US, German and British pharmacopoeias). are composed of petrolatum, zinc oxide and starch. Petrolatum, a highly lipophilic, water-immiscible vehicle surrounds the powder particles preventing any absorption of water or exudates. The goal of our investigation was to test a simple experimental setting to characterize the clinically important absorptive feature of powders and pastes. The absorptive features of the powders were determined by the method of Enslin. The absorptive features of the paste preparations were calculated from the weight difference between the paste preparation before and after incubation with water using a simple standardized procedure. The absorptive features of titanium dioxide, zinc oxide, kaolin, corn starch and methylcellulose powder in pharmacopoeia quality were determined. Zinc oxide and kaolin powder showed the highest absorption of 1,000 mg water/g powder (100%). The water absorption of corn starch and titanium dioxide was 700 and 450 mg/g powder, respectively. The absorptive features of a series of paste preparations were studied in a simple experimental setting. The data show that two-phase pastes consisting of two immiscible components, one (the dispersed or inner phase; powder) being suspended in the other (the continuous or outer phase; lipophilic vehicle), have no absorptive features. In contrast, three-phase pastes consisting of a hydrophilic two-phase emulsion with high concentrations of incorporated powder (cream pastes) show considerable water uptake. We conclude that the classical two-phase pastes such as the zinc oxide pastes have no absorptive features. On the contrary, these formulations are highly occlusive. Therefore lipophilic pastes are only indicated when protection of intact skin against aggressive body exudates and humidity is required. The hydrophilic three-phase pastes or cream pastes show considerable water uptake and fulfil common expectations of pastes to dry the skin.

SU-F-R-32: Evaluation of MRI Acquisition Parameter Variations On Texture Feature Extraction Using ACR Phantom

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

Xie, Y; Wang, J; Wang, C

Purpose: To investigate the sensitivity of classic texture features to variations of MRI acquisition parameters. Methods: This study was performed on American College of Radiology (ACR) MRI Accreditation Program Phantom. MR imaging was acquired on a GE 750 3T scanner with XRM explain gradient, employing a T1-weighted images (TR/TE=500/20ms) with the following parameters as the reference standard: number of signal average (NEX) = 1, matrix size = 256×256, flip angle = 90°, slice thickness = 5mm. The effect of the acquisition parameters on texture features with and without non-uniformity correction were investigated respectively, while all the other parameters were keptmore » as reference standard. Protocol parameters were set as follows: (a). NEX = 0.5, 2 and 4; (b).Phase encoding steps = 128, 160 and 192; (c). Matrix size = 128×128, 192×192 and 512×512. 32 classic texture features were generated using the classic gray level run length matrix (GLRLM) and gray level co-occurrence matrix (GLCOM) from each image data set. Normalized range ((maximum-minimum)/mean) was calculated to determine variation among the scans with different protocol parameters. Results: For different NEX, 31 out of 32 texture features’ range are within 10%. For different phase encoding steps, 31 out of 32 texture features’ range are within 10%. For different acquisition matrix size without non-uniformity correction, 14 out of 32 texture features’ range are within 10%; for different acquisition matrix size with non-uniformity correction, 16 out of 32 texture features’ range are within 10%. Conclusion: Initial results indicated that those texture features that range within 10% are less sensitive to variations in T1-weighted MRI acquisition parameters. This might suggest that certain texture features might be more reliable to be used as potential biomarkers in MR quantitative image analysis.« less

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

Oberreuter, Johannes M., E-mail: johannes.oberreuter@theorie.physik.uni-goettingen.de; Homrighausen, Ingo; Kehrein, Stefan

We study the time evolution of entanglement in a new quantum version of the Kac ring, where two spin chains become dynamically entangled by quantum gates, which are used instead of the classical markers. The features of the entanglement evolution are best understood by using knowledge about the behavior of an ensemble of classical Kac rings. For instance, the recurrence time of the quantum many-body system is twice the length of the chain and “thermalization” only occurs on time scales much smaller than the dimension of the Hilbert space. The model thus elucidates the relation between the results of measurementsmore » in quantum and classical systems: While in classical systems repeated measurements are performed over an ensemble of systems, the corresponding result is obtained by measuring the same quantum system prepared in an appropriate superposition repeatedly.« less

[Research and development strategies in classical herbal formulae].

PubMed

Chen, Chang; Cheng, Jin-Tang; Liu, An

2017-05-01

As an outstanding representative of traditional Chinese medicine prescription, classical herbal formulae are the essence of traditional Chinese medicine great treasure. To support the development of classical herbal formulae, the state and relevant administrative departments have successively promulgated the relevant encouraged policies.But some key issues of classic herbal formulae in the development process have not reached a unified consensus and standard, and these problems were discussed in depth here.The authors discussed the registration requirements of classical herbal formulae, proposed the screening specific indicators of classical herbal formulae, determination basis of prescription and dosage,screening method of production process, and the basic principle of clinical localization, in order to bring out valuable opinions and provide a reference for classical herbal formulae development and policy formulation. Copyright© by the Chinese Pharmaceutical Association.

[Anti-Ma2-associated encephalitis and paraneoplastic limbic encephalitis].

PubMed

Yamamoto, Tomotaka; Tsuji, Shoji

2010-08-01

Anti-Ma2-associated encephalitis (or anti-Ma2 encephalitis) is a paraneoplastic neurological syndrome (PNS) characterized by isolated or combined limbic, diencephalic, or brainstem dysfunction. Anti-Ma2 antibodies detected in the serum or cerebrospinal fluid of patients are highly specific for this disease entity and belong to a group of well-characterized onconeuronal antibodies (or classical antibodies). The corresponding antigen, Ma2 is selectively expressed intracellularly in neurons and tumors as is the case with other onconeuronal antigens targeted by classical antibodies. However, in most cases the clinical pictures are different from those of classical PNS and this creates a potential risk of underdiagnosis. Although limbic dysfunction is the most common manifestation in patients with anti-Ma2 encephalitis which is one of the major causes of paraneoplastic limbic encephalitis (LE), it has been reported that less than 30% of the patients with anti-Ma2 LE exhibit clinical presentations typical of the classical description of LE. Of the remaining, many exhibit excessive daytime sleepiness, vertical ophthalmoparesis, or both associated with LE, because of frequent involvement of the diencephalon and/or upper brainstem. Anti-Ma2 LE can also be manifested as a pure psychiatric disturbance such as obsessive-compulsive disorder in a few cases. Some patients develop mesodiencephalic encephalitis with minor involvement of the limbic system, and some may manifest severe hypokinesis. About 40% of the patients with anti-Ma2 antibodies also have antibodies against different epitopes on Ma1, a homologue of Ma2. These patients may have predominant cerebellar and/or brainstem dysfunctions due to more extensive involvement of subtentorial structures. Anti-Ma2 encephalitis is outstanding among other PNS associated with classical antibodies in that the response rate to treatment is relatively high. While it can cause severe neurological deficits or death in a substantial proportion of the patients, approximately one-third show neurological improvement and another 20 - 40% stabilize in response to treatment, including immunotherapy and/or tumor treatment. Patients who have limited CNS involvement and testicular tumors with complete response to therapy are more likely to show neurological improvement. This fact emphasizes the importance of early diagnosis and prompt initiation of therapy. However, it should be noted that even carcinoma in situ, which is difficult to detect can cause severe neurological disorders. In this respect, it is useful to highlight that anti-Ma2 encephalitis is almost always associated with testicular germ cell tumors in men younger than 50 years. We experienced a 40-year-old patient with severe hypokinesis caused by anti-Ma2 encephalitis associated with bilateral intratubular germ-cell neoplasm of the testes. In older men and women, non-small-cell lung cancer is most common but various types of cancers are reported to be associated. In this study,in addition to reviewing the above case we have reviewed the significance of anti-Ma2 antibodies in the diagnosis of anti-Ma2 encephalitis and the clinical features of this disease.

[Risk factor analysis of the patients with solitary pulmonary nodules and establishment of a prediction model for the probability of malignancy].

PubMed

Wang, X; Xu, Y H; Du, Z Y; Qian, Y J; Xu, Z H; Chen, R; Shi, M H

2018-02-23

Objective: This study aims to analyze the relationship among the clinical features, radiologic characteristics and pathological diagnosis in patients with solitary pulmonary nodules, and establish a prediction model for the probability of malignancy. Methods: Clinical data of 372 patients with solitary pulmonary nodules who underwent surgical resection with definite postoperative pathological diagnosis were retrospectively analyzed. In these cases, we collected clinical and radiologic features including gender, age, smoking history, history of tumor, family history of cancer, the location of lesion, ground-glass opacity, maximum diameter, calcification, vessel convergence sign, vacuole sign, pleural indentation, speculation and lobulation. The cases were divided to modeling group (268 cases) and validation group (104 cases). A new prediction model was established by logistic regression analying the data from modeling group. Then the data of validation group was planned to validate the efficiency of the new model, and was compared with three classical models(Mayo model, VA model and LiYun model). With the calculated probability values for each model from validation group, SPSS 22.0 was used to draw the receiver operating characteristic curve, to assess the predictive value of this new model. Results: 112 benign SPNs and 156 malignant SPNs were included in modeling group. Multivariable logistic regression analysis showed that gender, age, history of tumor, ground -glass opacity, maximum diameter, and speculation were independent predictors of malignancy in patients with SPN( P <0.05). We calculated a prediction model for the probability of malignancy as follow: p =e(x)/(1+ e(x)), x=-4.8029-0.743×gender+ 0.057×age+ 1.306×history of tumor+ 1.305×ground-glass opacity+ 0.051×maximum diameter+ 1.043×speculation. When the data of validation group was added to the four-mathematical prediction model, The area under the curve of our mathematical prediction model was 0.742, which is greater than other models (Mayo 0.696, VA 0.634, LiYun 0.681), while the differences between any two of the four models were not significant ( P >0.05). Conclusions: Age of patient, gender, history of tumor, ground-glass opacity, maximum diameter and speculation are independent predictors of malignancy in patients with solitary pulmonary nodule. This logistic regression prediction mathematic model is not inferior to those classical models in estimating the prognosis of SPNs.

Environment and initial state engineered dynamics of quantum and classical correlations

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

Wang, Cheng-Zhi, E-mail: czczwang@outlook.com; Li, Chun-Xian; Guo, Yu

Based on an open exactly solvable system coupled to an environment with nontrivial spectral density, we connect the features of quantum and classical correlations with some features of the environment, initial states of the system, and the presence of initial system–environment correlations. Some interesting features not revealed before are observed by changing the structure of environment, the initial states of system, and the presence of initial system–environment correlations. The main results are as follows. (1) Quantum correlations exhibit temporary freezing and permanent freezing even at high temperature of the environment, for which the necessary and sufficient conditions are given bymore » three propositions. (2) Quantum correlations display a transition from temporary freezing to permanent freezing by changing the structure of environment. (3) Quantum correlations can be enhanced all the time, for which the condition is put forward. (4) The one-to-one dependency relationship between all kinds of dynamic behaviors of quantum correlations and the initial states of the system as well as environment structure is established. (5) In the presence of initial system–environment correlations, quantum correlations under local environment exhibit temporary multi-freezing phenomenon. While under global environment they oscillate, revive, and damp, an explanation for which is given. - Highlights: • Various interesting behaviors of quantum and classical correlations are observed in an open exactly solvable model. • The important effects of the bath structure on quantum and classical correlations are revealed. • The one-to-one correspondence between the type of dynamical behavior of quantum discord and the initial state is given. • Quantum correlations are given in the presence of initial qubits–bath correlations.« less

The Orbital Period of the Classical Nova V458 Vul

NASA Astrophysics Data System (ADS)

Goranskij, V. P.; Metlova, N. V.; Barsukova, E. A.; Burenkov, A. N.; Soloviev, V. Ya.

2008-07-01

Classical nova V458 Vul (N Vul 2007 No.1) was detected as a supersoft X-ray source (SSS) by the Swift XRT several times in the time range between 2007 October 18 and 2008 June 18 (J. Drake et al., ATel #1246 and #1603). Our V photometry shows the plateau in the light curve continued since January till June 2008. This feature accompanies usually the SSS phases in some classical novae. The fragmentary monitoring during plateau shows night- to-night variability with the amplitudes between 1.2 and 0.4 mag and rapid variability by 0.1 mag in the time scale of an hour.

Photodynamic Therapy in Treatment of Oral Lichen Planus

PubMed Central

Mostafa, Diana; Tarakji, Bassel

2015-01-01

Oral lichen planus (OLP) is a relatively common chronic immunologic mucocutaneous disorder. Although there are many presenting treatments, some of them proved its failure. Recently, the use of photodynamic therapy (PDT) has been expanding due to its numerous advantages, as it is safe, convenient, and non-invasive and has toxic effect towards selective tissues. This article provides comprehensive review on OLP, its etiology, clinical features and recent non-pharmacological treatments. We also describe the topical PDT and its mechanisms. Our purpose was to evaluate the efficacy of PDT in treatment of OLP through collecting the data of the related clinical studies. We searched in PubMed website for the clinical studies that were reported from 2000 to 2014 using specific keywords: “photodynamic therapy” and “treatment of oral lichen planus”. Inclusion criteria were English publications only were concerned. In the selected studies of photodynamic treatment, adult patients (more than 20 years) were conducted and the OLP lesions were clinically and histologically confirmed. Exclusion criteria were classical and pharmacological treatments of OLP were excluded and also the using of PDT on skin lesions of lichen planus. We established five clinical studies in this review where all of them reported improvement and effectiveness of PDT in treatment of OLP lesions. The main outcome of comparing the related clinical studies is that the photodynamic is considered as a safe, effective and promising treatment modality for OLP. PMID:25883701

Primary intestinal and thoracic lymphangiectasia: a response to antiplasmin therapy.

PubMed

MacLean, Joanna E; Cohen, Eyal; Weinstein, Michael

2002-06-01

Lymphangiectasia is a congenital or acquired disorder characterized by abnormal, dilated lymphatics with a variable age of presentation. We describe a case of lymphangiectasia with intestinal and pulmonary involvement in an adolescent female, who presented with many of the classic features including chylous pleural effusions, lymphopenia, hypogammaglobinemia, and a protein-losing enteropathy. She also presented with recurrent lower gastrointestinal bleeding, which is infrequently described. The patient did not improve with bowel rest and a low-fat medium-chain triglyceride diet and had little improvement with octreotide acetate therapy. However, she had a clinical response to antiplasmin therapy, trans-4-aminothylcyclohexamine carboxylic acid (tranexamic acid) in terms of serum albumin and gastrointestinal bleeding. She continues to have exacerbations of her condition, as well as persistent lymphopenia and chronic pleural effusions.

Disease-Related Detection with Electrochemical Biosensors: A Review

PubMed Central

Huang, Ying; Xu, Jin; Liu, Junjie; Wang, Xiangyang; Chen, Bin

2017-01-01

Rapid diagnosis of diseases at their initial stage is critical for effective clinical outcomes and promotes general public health. Classical in vitro diagnostics require centralized laboratories, tedious work and large, expensive devices. In recent years, numerous electrochemical biosensors have been developed and proposed for detection of various diseases based on specific biomarkers taking advantage of their features, including sensitivity, selectivity, low cost and rapid response. This article reviews research trends in disease-related detection with electrochemical biosensors. Focus has been placed on the immobilization mechanism of electrochemical biosensors, and the techniques and materials used for the fabrication of biosensors are introduced in details. Various biomolecules used for different diseases have been listed. Besides, the advances and challenges of using electrochemical biosensors for disease-related applications are discussed. PMID:29039742

[A parotitis as primary infection of Lemierre's syndrome].

PubMed

Valleix, B; Floccard, B; Hautin, E; Faure, F; Allaouchiche, B

2011-09-01

Lemierre's syndrome is a classical presentation of human necrobacillosis. It is characterized by a primary infection in the face including a septic thrombophlebitis of the internal jugular vein and disseminated metastatic abcesses. Fusobacterium necrophorum is the main pathogen found in that syndrome. The diagnosis is based on clinical features, then on the microbiology with positive anaerobic blood cultures as key role and finally on the computed tomography. Most of the time a well-chosen antibiotic treatment against anaerobic pathogens and Gram negative bacilli is efficient but surgery can be useful. We report a case of a 73 years old man, which seems to be unique because it is the first case reported of a Lemierre's syndrome characterized by a parotitis infected by F. necrophorum. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Juvenile Spring Eruption: A Variant of Perniosis?

PubMed

Nabatian, Adam S; Rosman, Ilana S; Sturza, Jeffrey; Jacobson, Mark

2015-09-01

Juvenile spring eruption (JSE) is a unique condition that typically affects the helices of the ears of boys and young men. The classical clinical picture of JSE includes the abrupt onset of lesions after spending time outdoors in the early spring. Because of the papulovesicular nature of the rash and the history of sun exposure, JSE is considered a variant of polymorphous light eruption. In addition to the term "juvenile spring eruption," this entity has also been described under other less common terms such as "perniosis juvenilis vernalis aurium" or "spring perniosis," which emphasizes the onset in the spring and the possible pathogenic role of cold weather. We present a case of likely JSE with histopathologic features more consistent with perniosis than polymorphous light eruption and present a review the literature.

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

Williams, R.; Gardiner, R.M.; Jaervela, I.

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. The biochemical basis of these diseases is unknown. Three main childhood forms are recognized: infantile (Santavuori-Haltia disease, CLN1), late infantile (Jansky-Bielschowsky disease, CLN2), and juvenile (Spielmeyer-Vogt-Sjoegren, Batten disease, CLN3). The CLN1 gene has been mapped to chromosome 1p and CLN3 to chromosome 16p by linkage analysis. The gene locus causing the classical late infantile form (CLN2) has not yet been mapped but has been excluded from both CLN1 and CLN3 loci. About 10% of NCLmore » cases have a typical clinical features with most of these resembling the late infantile form. 8 refs., 1 fig., 1 tab.« less

Electrocardiogram voltage discordance: Interpretation of low QRS voltage only in the precordial leads.

PubMed

Kim, Diana H; Verdino, Ralph J

To define clinical correlates of low voltage isolated to precordial leads on the surface electrocardiogram (ECG). Low voltage (V) on the ECG is defined as QRS V<5mm in all limb leads and <10mm in all precordial leads. The diagnostic use of ECGs with low voltage isolated to the precordial leads with normal limb lead voltages is unclear. Twelve-lead ECGs with QRS V>5mm in one or more limb leads and <10mm in all precordial leads were collected. Associated clinical conditions were determined from clinical data, echocardiograms, and chest radiographs. Low precordial voltage was found in 256 of 150,000 ECGs (~0.2%). 50.4% of patients had discordant ECGs that correlated with classic etiologies, with a higher incidence of LV dilation in those with classic etiologies than those without. Low precordial voltage is associated with classic etiologies and LV dilation. Copyright © 2017 Elsevier Inc. All rights reserved.

Diagnosis of breast masses from dynamic contrast-enhanced and diffusion-weighted MR: a machine learning approach.

PubMed

Cai, Hongmin; Peng, Yanxia; Ou, Caiwen; Chen, Minsheng; Li, Li

2014-01-01

Dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) is increasingly used for breast cancer diagnosis as supplementary to conventional imaging techniques. Combining of diffusion-weighted imaging (DWI) of morphology and kinetic features from DCE-MRI to improve the discrimination power of malignant from benign breast masses is rarely reported. The study comprised of 234 female patients with 85 benign and 149 malignant lesions. Four distinct groups of features, coupling with pathological tests, were estimated to comprehensively characterize the pictorial properties of each lesion, which was obtained by a semi-automated segmentation method. Classical machine learning scheme including feature subset selection and various classification schemes were employed to build prognostic model, which served as a foundation for evaluating the combined effects of the multi-sided features for predicting of the types of lesions. Various measurements including cross validation and receiver operating characteristics were used to quantify the diagnostic performances of each feature as well as their combination. Seven features were all found to be statistically different between the malignant and the benign groups and their combination has achieved the highest classification accuracy. The seven features include one pathological variable of age, one morphological variable of slope, three texture features of entropy, inverse difference and information correlation, one kinetic feature of SER and one DWI feature of apparent diffusion coefficient (ADC). Together with the selected diagnostic features, various classical classification schemes were used to test their discrimination power through cross validation scheme. The averaged measurements of sensitivity, specificity, AUC and accuracy are 0.85, 0.89, 90.9% and 0.93, respectively. Multi-sided variables which characterize the morphological, kinetic, pathological properties and DWI measurement of ADC can dramatically improve the discriminatory power of breast lesions.

Citation classics in periodontology: a controlled study.

PubMed

Nieri, Michele; Saletta, Daniele; Guidi, Luisa; Buti, Jacopo; Franceschi, Debora; Mauro, Saverio; Pini-Prato, Giovanpaolo

2007-04-01

The aims of this study were to identify the most cited articles in Periodontology published from January 1990 to March 2005; and to analyse the differences between citation Classics and less cited articles. The search was carried out in four international periodontal journals: Journal of Periodontology, Journal of Clinical Periodontology, International Journal of Periodontics and Restorative Dentistry and Journal of Periodontal Research. The Classics, that are articles cited at least 100 times, were identified using the Science Citation Index database. From every issue of the journals that contained a Classic, another article was randomly selected and used as a Control. Fifty-five Classics and 55 Controls were identified. Classic articles were longer, used more images, had more authors, and contained more self-references than Controls. Moreover Classics had on the average a bigger sample size, often dealt with etiopathogenesis and prognosis, but were rarely controlled or randomized studies. Classic articles play an instructive role, but are often non-Controlled studies.

New features in the structure of the classical Kuiper Belt

NASA Astrophysics Data System (ADS)

Gladman, Brett; Bannister, Michele T.; Alexandersen, Mike; Chen, Ying-Tung; Gwyn, Stephen; Kavelaars, J. J.; Petit, Jean-Marc; Volk, Kathryn; OSSOS Collaboration

2016-10-01

We report fascinating new dynamical structures emerging from a higher precision view of the classical Kuiper belt (the plentiful non-resonant orbits with semimajor axes in roughly the a=35-60 au range). The classical Kuiper Belt divides into multiple sub-populations: an 'inner' classical belt (a small group of non-resonant objects with a<39.4 au where the 3:2 resonance is located), an abundant 'main' classical belt (between the 3:2 and the 2:1 at a=47.4 au), and a difficult to study outer classical belt beyond the 2:1. We examine the dynamical structure, as precisely revealed in the detections from OSSOS (the Outer Solar System Origin's Survey); the data set is of superb quality in terms of orbital element and numbers of detections (Kavelaars et al, this meeting).The previous CFEPS survey showed that the main classical belt requires a complex dynamical substructure that goes beyond a simple 'hot versus cold' division based primarily on orbital inclination; the 'cold' inclination component requires two sub-components in the semimajor axis and perihelion distance q space (Petit et al 2011). CFEPS modelled this as a 'stirred' component present at all a=40-47 AU semimajor axes, with a dense superposed 'kernel' near a=44 AU at low eccentricity; the first OSSOS data release remained consistent with this (Bannister et al 2016). As with the main asteroid belt, as statistics and orbital quality improve we see additional significant substructure emerging in the classical belt's orbital distribution.OSSOS continues to add evidence that the cold stirred component extends smoothly beyond the 2:1 (Bannister et al 2016). Unexpectedly, the data also reveal the clear existence of a paucity of orbits just beyond the outer edge of the kernel; there are significantly fewer TNOs in the narrow semimajor axis band from a=44.5-45.0 AU. This may be related to the kernel population's creation, or it may be an independent feature created by planet migration as resonances moved in the primordial Kuiper Belt.

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.

PubMed

de Graaf, Michael; Kant, Sarina G; Wit, Jan Maarten; Willem Redeker, Egbert Johan; Eduard Santen, Gijs Willem; Henriëtta Verkerk, Annemieke Johanna Maria; Uitterlinden, André Gerardus; Losekoot, Monique; Oostdijk, Wilma

2017-12-15

Cornelia de Lange syndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the cohesin pathway, have been identified to cause CdLS. Growth hormone (GH) secretion has been reported as normal, and to our knowledge, there are no reports on the effect of recombinant human GH treatment in CdLS patients. We present a patient born small for gestational age with persistent severe growth retardation [height -3.4 standard deviation score (SDS)] and mild dysmorphic features, who was treated with GH from 4.3 years of age onward and was diagnosed 6 years later with CdLS using whole-exome sequencing. Treatment led to a height gain of 1.6 SDS over 8 years. Treatment was interrupted shortly due to high serum insulin-like growth factor-1 serum values. In conclusion, GH therapy may be effective and safe for short children with CdLS.

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome

PubMed Central

de Graaf, Michael; Kant, Sarina G; Wit, Jan Maarten; Redeker, Egbert Johan Willem; Santen, Gijs Willem Eduard; Verkerk, Annemieke Johanna Maria Henriëtta; Uitterlinden, André Gerardus; Losekoot, Monique; Oostdijk, Wilma

2017-01-01

Cornelia de Lange syndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the cohesin pathway, have been identified to cause CdLS. Growth hormone (GH) secretion has been reported as normal, and to our knowledge, there are no reports on the effect of recombinant human GH treatment in CdLS patients. We present a patient born small for gestational age with persistent severe growth retardation [height -3.4 standard deviation score (SDS)] and mild dysmorphic features, who was treated with GH from 4.3 years of age onward and was diagnosed 6 years later with CdLS using whole-exome sequencing. Treatment led to a height gain of 1.6 SDS over 8 years. Treatment was interrupted shortly due to high serum insulin-like growth factor-1 serum values. In conclusion, GH therapy may be effective and safe for short children with CdLS. PMID:28588001

Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes—MELAS Syndrome

PubMed Central

Henry, Caitlin; Patel, Neema; Shaffer, William; Murphy, Lillian; Park, Joe

2017-01-01

Background: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder that results in waxing and waning nervous system and muscle dysfunction. MELAS syndrome may overlap with other neurologic disorders but shows distinctive imaging features. Case Report: We present the case of a 28-year-old female with atypical stroke-like symptoms, a strong family history of stroke-like symptoms, and a relapsing-remitting course for several years. We discuss the imaging features distinctive to the case, the mechanism of the disease, typical presentation, imaging diagnosis, and disease management. Conclusion: This case is a classic example of the relapse-remitting MELAS syndrome progression with episodic clinical flares and fluctuating patterns of stroke-like lesions on imaging. MELAS is an important diagnostic consideration when neuroimaging reveals a pattern of disappearing and relapsing cortical brain lesions that may occur in different areas of the brain and are not necessarily limited to discrete vascular territories. Future studies should investigate disease mechanisms at the cellular level and the value of advanced magnetic resonance imaging techniques for a targeted approach to therapy. PMID:29026367

Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome.

PubMed

Henry, Caitlin; Patel, Neema; Shaffer, William; Murphy, Lillian; Park, Joe; Spieler, Bradley

2017-01-01

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder that results in waxing and waning nervous system and muscle dysfunction. MELAS syndrome may overlap with other neurologic disorders but shows distinctive imaging features. We present the case of a 28-year-old female with atypical stroke-like symptoms, a strong family history of stroke-like symptoms, and a relapsing-remitting course for several years. We discuss the imaging features distinctive to the case, the mechanism of the disease, typical presentation, imaging diagnosis, and disease management. This case is a classic example of the relapse-remitting MELAS syndrome progression with episodic clinical flares and fluctuating patterns of stroke-like lesions on imaging. MELAS is an important diagnostic consideration when neuroimaging reveals a pattern of disappearing and relapsing cortical brain lesions that may occur in different areas of the brain and are not necessarily limited to discrete vascular territories. Future studies should investigate disease mechanisms at the cellular level and the value of advanced magnetic resonance imaging techniques for a targeted approach to therapy.

Osteomalacia associated with cutaneous psoriasis as the presenting feature of coeliac disease: a case report.

PubMed

Frikha, Faten; Snoussi, Mouna; Bahloul, Zouhir

2012-01-01

Celiac disease (CD) is a chronic digestive disease that results in hypersensitivity to the gliadin fraction of Gluten. Malabsorption syndrome may be responsible for weight loss, diarrhea, osteomalacia, and vitamins deficiency. Herein we report a patient with coeliac disease (CD) who presented with osteomalacia and psoriasis without classical symptoms of CD. A 25-year-old North African Tunisian white woman was admitted to the hospital because of a 1-year history of bone pain, weight loss and weakness. She had cutaneous psoriasis on dermatologic examination. She had also anemia, hypocalcemia and pathological fracture. She was diagnosed to have osteomalacia on the basis of clinical, biological and radiological findings. Further investigations revealed the presence of antiglutaminase antibodies, and histopathologic findings of the duodenal biopsy were consistent with celiac disease. The patient showed a fast response to gluten-free diet, and full recovery with calcium and vitamin D replacement. Coeliac disease is frequently misdiagnosed leading to major complications such as osteolamacia. In the other hand, osteomalacia can still be the presenting feature of undiagnosed celiac disease. Association between osteomalacia and cutaneous psoriasis is rarely reported.

The Fate of Visible Features of Invisible Elements

PubMed Central

Herzog, Michael H.; Otto, Thomas U.; Ögmen, Haluk

2012-01-01

To investigate the integration of features, we have developed a paradigm in which an element is rendered invisible by visual masking. Still, the features of the element are visible as part of other display elements presented at different locations and times (sequential metacontrast). In this sense, we can “transport” features non-retinotopically across space and time. The features of the invisible element integrate with features of other elements if and only if the elements belong to the same spatio-temporal group. The mechanisms of this kind of feature integration seem to be quite different from classical mechanisms proposed for feature binding. We propose that feature processing, binding, and integration occur concurrently during processes that group elements into wholes. PMID:22557985

Quantum Dynamics in the HMF Model

NASA Astrophysics Data System (ADS)

Plestid, Ryan; O'Dell, Duncan

2017-04-01

The Hamiltonian Mean Field (HMF) model represents a paradigm in the study of long-range interactions but has never been realized in a lab. Recently Shutz and Morigi (PRL 113) have come close but ultimately fallen short. Their proposal relied on cavity-induced interactions between atoms. If a design using cold atoms is to be successful, an understanding of quantum effects is essential. I will outline the natural quantum generalization of the HMF assuming a BEC by using a generalized Gross-Pitaevskii equation (gGPE). I will show how quantum effects modify features which are well understood in the classical model. More specifically, by working in the semi-classical regime (strong interparticle interactions) we can identify the universal features predicted by catastrophe theory dressed with quantum interference effects. The stationary states of gGPE can be solved exactly and are found to be described by self-consistent Mathieu functions. Finally, I will discuss the connection between the classical description of the dynamics in terms of the Vlassov equation, and the gGPE. We would like to thank the Government of Ontario's OGS program, NSERC, and the Perimeter Institute of Theoretical Physics.

Imaging the Glenoid Labrum and Labral Tears.

PubMed

De Coninck, Tineke; Ngai, Steven S; Tafur, Monica; Chung, Christine B

2016-10-01

The shoulder joint is the most unstable articulation in the entire human body. While this certainly introduces vulnerability to injury, it also confers the advantage of broad range of motion. There are many elements that work in combination to offset the inherent instability of the glenohumeral joint, but the glenoid labrum is perhaps related most often. Broadly, clinical unidirectional instability can be subdivided into anterior and posterior instability, which usually raise concern for anteroinferior and posteroinferior labral lesions, respectively. In the special case of superior labral damage, potential dislocation is blocked by structures that include the acromion; hence, while damage elsewhere commonly manifests as clinical instability, damage to the superior labrum is often described by the term microinstability. In this particular case, one of the radiologist's main concerns should be classic superior labral anteroposterior lesions. The glenoid labrum is also subject to a wide range of normal variants that can mimic labral tears. Knowledge of these variants is central to interpreting an imaging study of the labrum because misdiagnosis of labral variants as tears can lead to superfluous surgical procedures and decreased shoulder mobility. This article reviews labral anatomy and normal labral variants, describes their imaging features, and discusses how to discriminate normal variants from labral tears. Specific labral pathologic lesions are described per labral quadrant (anteroinferior, posteroinferior, and superior), and imaging features are described in detail. Online supplemental material is available for this article. © RSNA, 2016.

Functional (psychogenic) stereotypies.

PubMed

Baizabal-Carvallo, José Fidel; Jankovic, Joseph

2017-07-01

Functional (psychogenic) movement disorders (FMDs) may present with a broad spectrum of phenomenology including stereotypic movements. We aimed to characterize the phenomenology of functional stereotypies and compare these features with those observed in 65 patients with tardive dyskinesia (TD). From a cohort of 184 patients with FMDs, we identified 19 (10.3%) with functional stereotypies (FS). There were 15 women and 4 men, with a mean age at onset of 38.6 ± 17.4 years. Among the patients with FS, there were 9 (47%) with orolingual dyskinesia/stereotypy, 9 (47%) with limb stereotypies, 6 (32%) with trunk stereotypies, and 2 (11%) with respiratory dyskinesia as part of orofacial-laryngeal-trunk stereotypy. These patients showed signs commonly seen in FMDs such as sudden onset (84%), prominent distractibility (58%), and periods of unexplained improvement (84%) that were not reported in patients with TD. Besides a much lower frequency of exposure to potential offending drugs, patients with FS differed from those with classic TD by a younger age at onset, lack of self-biting, uncommon chewing movements, more frequent lingual movements without mouth dyskinesia, and associated functional tremor and abnormal speech. Lack of self-biting showed the highest sensitivity (1.0) and abnormal speech showed the highest specificity (0.9) for the diagnosis of functional orolingual dyskinesia. FS represent part of the clinical spectrum of FMDs. Clinical and demographic features are helpful in distinguishing patients with FS from those with TD.

Common features of periocular tinea.

PubMed

Basak, S Alison Finger; Berk, David R; Lueder, Gregg T; Bayliss, Susan J

2011-03-01

To present the common features of periocular tinea to aid physicians in future diagnosis and therapy of this condition, because superficial fungal infections on the face are often misdiagnosed owing to the diverse morphologies that they manifest. This is especially true of dermatophytoses involving the periocular region. A retrospective review was performed of patients with a diagnosis of periocular tinea who were seen between January 2003 and September 2009 in the pediatric dermatology clinic at St. Louis Children's Hospital. Ten cases of periocular tinea were identified (6 male patients and 4 female patients). Common features included prolonged misdiagnosis (all 10 cases), a normal ophthalmologic examination (all 10 cases), and inappropriate corticosteroid application (7 cases). Loss of the eyelashes occurred in all 10 patients. No cases had evidence of other tinea infections on examination. Only 2 cases had the central clearing classically associated with tinea corporis. Seven patients had a potassium hydroxide preparation and/or culture positive for fungal elements. Lesions improved with topical and oral antifungal treatment in all cases, and patients were able to regrow their eyelashes. Periocular tinea should be considered in the differential diagnosis for periocular inflammation, especially in those patients refractory to therapy for more common conditions. Loss of the eyelashes is characteristic of these fungal infections, similar to the hair loss that occurs in kerions associated with tinea capitis.

Eosinophils are rare in biopsy specimens of psoriasis vulgaris.

PubMed

Rosa, Gabriela; Fernandez, Anthony P; Schneider, Sarah; Billings, Steven D

2017-12-01

Histological features of lesional biopsies can be helpful in distinguishing psoriasis subtypes from disease mimickers. However, occasionally, classic histological features are not sufficient for distinction, and additional clues would be useful. There is a common belief that the presence of eosinophils in skin biopsies argues against psoriasis, but actual literature is scant. Skin biopsies with a diagnosis of psoriasis from 2013 to 2016 were reviewed. For inclusion, both histological and clinical features were required to be consistent with psoriasis. For biopsies meeting inclusion criteria, a detailed evaluation for typical histological parameters of psoriasis, as well as presence of dermal eosinophils, was performed. Of 85 cases meeting inclusion criteria, all had either individual or grouped intracorneal neutrophils and dilated papillary blood vessels. Diminished or complete loss of the granular cell layer was seen in 83 cases (98%), and parakeratosis was seen in 84 cases (99%). Alternatively, dermal eosinophils were seen in only 15 cases (18%). Of cases with eosinophils, none had more than 3 eosinophils upon examination of the entire dermis. Active treatment did not appear to impact presence/absence or numbers of eosinophils. Eosinophils are uncommon in psoriasis biopsies, and when present, they are found in small numbers. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

PubMed

Guergueltcheva, Velina; Müller, Juliane S; Dusl, Marina; Senderek, Jan; Oldfors, Anders; Lindbergh, Christopher; Maxwell, Susan; Colomer, Jaume; Mallebrera, Cecilia Jimenez; Nascimento, Andres; Vilchez, Juan J; Muelas, Nuria; Kirschner, Janbernd; Nafissi, Shahriar; Kariminejad, Ariana; Nilipour, Yalda; Bozorgmehr, Bita; Najmabadi, Hossein; Rodolico, Carmelo; Sieb, Jörn P; Schlotter, Beate; Schoser, Benedikt; Herrmann, Ralf; Voit, Thomas; Steinlein, Ortrud K; Najafi, Abdolhamid; Urtizberea, Andoni; Soler, Doriette M; Muntoni, Francesco; Hanna, Michael G; Chaouch, Amina; Straub, Volker; Bushby, Kate; Palace, Jacqueline; Beeson, David; Abicht, Angela; Lochmüller, Hanns

2012-05-01

Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the neuromuscular junction. A difficult to diagnose subgroup of CMS is characterised by proximal muscle weakness and fatigue while ocular and facial involvement is only minimal. DOK7 mutations have been identified as causing the disorder in about half of the cases. More recently, using classical positional cloning, we have identified mutations in a previously unrecognised CMS gene, GFPT1, in a series of DOK7-negative cases. However, detailed description of clinical features of GFPT1 patients has not been reported yet. Here we describe the clinical picture of 24 limb-girdle CMS (LG-CMS) patients and pathological findings of 18 of them, all carrying GFPT1 mutations. Additional patients with CMS, but without tubular aggregates, and patients with non-fatigable weakness with tubular aggregates were also screened. In most patients with GFPT1 mutations, onset of the disease occurs in the first decade of life with characteristic limb-girdle weakness and fatigue. A common feature was beneficial and sustained response to acetylcholinesterase inhibitor treatment. Most of the patients who had a muscle biopsy showed tubular aggregates in myofibers. Analysis of endplate morphology in one of the patients revealed unspecific abnormalities. Our study delineates the phenotype of CMS associated with GFPT1 mutations and expands the understanding of neuromuscular junction disorders. As tubular aggregates in context of a neuromuscular transmission defect appear to be highly indicative, we suggest calling this condition congenital myasthenic syndrome with tubular aggregates (CMS-TA).

Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency.

PubMed

Durel, Cécile-Audrey; Aouba, Achille; Bienvenu, Boris; Deshayes, Samuel; Coppéré, Brigitte; Gombert, Bruno; Acquaviva-Bourdain, Cécile; Hachulla, Eric; Lecomte, Frédéric; Touitou, Isabelle; Ninet, Jacques; Philit, Jean-Baptiste; Messer, Laurent; Brouillard, Marc; Girard-Madoux, Marie-Hélène; Moutschen, Michel; Raison-Peyron, Nadia; Hutin, Pascal; Duffau, Pierre; Trolliet, Pierre; Hatron, Pierre-Yves; Heudier, Philippe; Cevallos, Ramiro; Lequerré, Thierry; Brousse, Valentine; Lesire, Vincent; Audia, Sylvain; Maucort-Boulch, Delphine; Cuisset, Laurence; Hot, Arnaud

2016-03-01

The aim of this study was to describe the clinical and biological features of Mevalonate kinase deficiency (MKD) in patients diagnosed in adulthood. This is a French and Belgian observational retrospective study from 2000 to 2014. To constitute the cohort, we cross-check the genetic and biochemical databases. The clinical, enzymatic, and genetic data were gathered from medical records. Twenty-three patients were analyzed. The mean age at diagnosis was 40 years, with a mean age at onset of symptoms of 3 years. All symptomatic patients had fever. Febrile attacks were mostly associated with arthralgia (90.9%); lymphadenopathy, abdominal pain, and skin lesions (86.4%); pharyngitis (63.6%); cough (59.1%); diarrhea, and hepatosplenomegaly (50.0%). Seven patients had psychiatric symptoms (31.8%). One patient developed recurrent seizures. Three patients experienced renal involvement (13.6%). Two patients had angiomyolipoma (9.1%). All but one tested patients had elevated serum immunoglobulin (Ig) D level. Twenty-one patients had genetic diagnosis; most of them were compound heterozygote (76.2%). p.Val377Ile was the most prevalent mutation. Structural articular damages and systemic AA amyloidosis were the 2 most serious complications. More than 65% of patients displayed decrease in severity and frequency of attacks with increasing age, but only 35% achieved remission. MKD diagnosed in adulthood shared clinical and genetic features with classical pediatric disease. An elevated IgD concentration is a good marker for MKD in adults. Despite a decrease of severity and frequency of attacks with age, only one-third of patients achieved spontaneous remission.

Drug-induced lupus erythematosus.

PubMed

Marzano, A V; Tavecchio, S; Menicanti, C; Crosti, C

2014-06-01

Drug-induced lupus erythematosus (DI-LE) is defined as an entity characterized by clinical manifestations and immunopathological serum findings similar to those of idiopathic lupus but which is temporally related to drug exposure and resolves after withdrawal of the implicated drug. Similarly to idiopathic lupus, DI-LE can be divided into systemic LE, subacute cutaneous LE (SCLE), chronic cutaneous LE (CCLE) and cutaneous LE tumidus. DI-SCLE is the most frequent variant of drug-induced cutaneous LE and presents mainly with annular-polycyclic lesions; the clinical picture is often widespread, with involvement of the lower legs that are usually spared in idiopathic SCLE. ANA and anti-Ro/SSA antibodies are typically present, whereas antihistone antibodies are uncommonly found. We have recently addressed the question whether DI-SCLE differs significantly from its idiopathic counterpart by virtue of clinical features and, based on our findings, we have suggested that the frequent occurrence of malar rash and bullous, erythema multiforme-like and vasculitic manifestations can be regarded as the hallmark of DI-SCLE. In contrast, the histology is not a useful diagnostic criterion for DI-SCLE, considering that the typical pattern of lichenoid interface dermatitis is seen only in the early stage of disease and tissue eosinophilia does not represent a differentiating histopathological feature. DI-CCLE and DI-LE tumidus, albeit possibly misdiagnosed, are rarely observed and are characterized by classic discoid lesions and erythematous-oedematous plaques on sun exposed areas, respectively. Management of DI-LE is based on the discontinuation of the offending drug; topical and/or systemic corticosteroids and other immunomodulating/immunosuppressive agents should be reserved for resistant cases.

In vivo reflectance confocal microscopy evaluation of cheilitis glandularis: a report of 5 cases.

PubMed

Lourenço, Silvia V; Kos, Eliana; Borguezan Nunes, Thais; Bologna, Sheyla B; Sangueza, Martin; Nico, Marcello M S

2015-03-01

Cheilitis glandularis (CG) is an uncommon condition of unknown origin; it is clinically characterized by variable degrees of macrocheilia associated with red dilated ostia of minor salivary glands on the vermilion area, which secrete viscous saliva. Histopathological characteristics of CG are comprised of chronic sialadenitis with engorged acinar lobules and dilated ducts; CG also features chronic sun damage (actinic cheilitis and squamous cell carcinoma). These changes may be localized, and a punch biopsy specimen might fail to reveal enough criteria to support the diagnosis of CG. Reflectance confocal microscopy (RCM) is a noninvasive imaging technique that enables an in vivo en face visualization of tissues with a resolution close to conventional histopathology. Its use allows analysis of the entire lip, without excision. We reported the evaluation of 5 cases of CG based on clinical RCM and histopathological correlation. RCM examination of the lip vermilion mainly revealed a bright aspect of the superficial epithelial layers, which corresponded to labial keratosis. Alteration of the classical epithelial honeycomb pattern was observed in RCM, which corresponded to epithelial changes in actinic cheilitis at histopathology. Round, dark empty spaces intermingling the epithelium, corresponded to the ectopic excretory salivary gland ducts that open their ostia within the lip vermilion. In the lamina propria, the most striking feature was superficial salivary gland lobules, seen as dark gray lobular structures. Our study, demonstrated the use of RCM in the evaluation of CG, showing that a correlation between the clinical, digital RCM images and histopathology improved the diagnostic skills in CG evaluation.

The myeloproliferative neoplasms, unclassifiable: clinical and pathological considerations.

PubMed

Gianelli, Umberto; Cattaneo, Daniele; Bossi, Anna; Cortinovis, Ivan; Boiocchi, Leonardo; Liu, Yen-Chun; Augello, Claudia; Bonometti, Arturo; Fiori, Stefano; Orofino, Nicola; Guidotti, Francesca; Orazi, Attilio; Iurlo, Alessandra

2017-02-01

In this study, we investigate in detail the morphological, clinical and molecular features of 71 consecutive patients with a diagnosis of myeloproliferative neoplasms, unclassifiable. We performed a meticulous morphological analysis and found that most of the cases displayed a hypercellular bone marrow (70%) with normal erythropoiesis without left-shifting (59%), increased granulopoiesis with left-shifting (73%) and increased megakaryocytes with loose clustering (96%). Megakaryocytes displayed frequent giant forms with hyperlobulated or bulbous nuclei and/or other maturation defects. Interestingly, more than half of the cases displayed severe bone marrow fibrosis (59%). Median values of hemoglobin level and white blood cells count were all within the normal range; in contrast, median platelets count and lactate dehydrogenase were increased. Little less than half of the patients (44%) showed splenomegaly. JAK2V617F mutation was detected in 72% of all patients. Among the JAK2-negative cases, MPLW515L mutation was found in 17% and CALR mutations in 67% of the investigated cases, respectively. Finally, by multiple correspondence analysis of the morphological profiles, we found that all but four of the cases could be grouped in three morphological clusters with some features similar to those of the classic BCR-ABL1-negative myeloproliferative neoplasms. Analysis of the clinical parameters in these three clusters revealed discrepancies with the morphological profile in about 55% of the patients. In conclusion, we found that the category of myeloproliferative neoplasm, unclassifiable is heterogeneous but identification of different subgroups is possible and should be recommended for a better management of these patients.

Geomorphology, tectonics, and exploration

NASA Technical Reports Server (NTRS)

Sabins, F. F., Jr.

1985-01-01

Explorationists interpret satellite images for tectonic features and patterns that may be clues to mineral and energy deposits. The tectonic features of interest range in scale from regional (sedimentary basins, fold belts) to local (faults, fractures) and are generally expressed as geomorphic features in remote sensing images. Explorationists typically employ classic concepts of geomorphology and landform analysis for their interpretations, which leads to the question - Are there new and evolving concepts in geomorphology that may be applicable to tectonic analyses of images?

Classical topological paramagnetism

NASA Astrophysics Data System (ADS)

Bondesan, R.; Ringel, Z.

2017-05-01

Topological phases of matter are one of the hallmarks of quantum condensed matter physics. One of their striking features is a bulk-boundary correspondence wherein the topological nature of the bulk manifests itself on boundaries via exotic massless phases. In classical wave phenomena, analogous effects may arise; however, these cannot be viewed as equilibrium phases of matter. Here, we identify a set of rules under which robust equilibrium classical topological phenomena exist. We write simple and analytically tractable classical lattice models of spins and rotors in two and three dimensions which, at suitable parameter ranges, are paramagnetic in the bulk but nonetheless exhibit some unusual long-range or critical order on their boundaries. We point out the role of simplicial cohomology as a means of classifying, writing, and analyzing such models. This opens an experimental route for studying strongly interacting topological phases of spins.

Thermal atmospheric models

NASA Technical Reports Server (NTRS)

Johnson, Hollis Ralph

1987-01-01

The static thermal atmosphere is described and its predictions are compared to observations both to test the validity of the classic assumptions and to distinguish and describe those spectral features with diagnostic value.

On the Formulation of Anisotropic-Polyaxial Failure Criteria: A Comparative Study

NASA Astrophysics Data System (ADS)

Parisio, Francesco; Laloui, Lyesse

2018-02-01

The correct representation of the failure of geomaterials that feature strength anisotropy and polyaxiality is crucial for many applications. In this contribution, we propose and evaluate through a comparative study a generalized framework that covers both features. Polyaxiality of strength is modeled with a modified Van Eekelen approach, while the anisotropy is modeled using a fabric tensor approach of the Pietruszczak and Mroz type. Both approaches share the same philosophy as they can be applied to simpler failure surfaces, allowing great flexibility in model formulation. The new failure surface is tested against experimental data and its performance compared against classical failure criteria commonly used in geomechanics. Our study finds that the global error between predictions and data is generally smaller for the proposed framework compared to other classical approaches.

Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis.

PubMed

Alsultan, Abdulrahman; Basher, Enas; Alqanatish, Jubran; Mohammed, Reem; Alfadhel, Majid

2018-04-01

Adenosine deaminase-2 (ADA2) deficiency (DADA2) is associated with early onset polyarteritis nodosa and vasculopathy. Classic presentation includes livedo reticularis, vasculitis, and stroke. However, the phenotype and disease severity are variable. We present a 5-year-old female who presented with features that mimicked autoimmune lymphoproliferative syndrome (ALPS) in the absence of classic features of DADA2. Exome sequencing identified a novel homozygous splicing variant in ADA2 c.882-2A > G. Patient responded to anti- tumor necrosis factor medication and is in complete remission. Hematologists should be aware of various hematological presentations of DADA2, including ALPS-like disorder, that might lack vasculitis and livedo reticularis to prevent delay in initiating optimal therapy. © 2017 Wiley Periodicals, Inc.

Treatment of the motor and non-motor symptoms in Parkinson's disease according to cluster symptoms presentation.

PubMed

Lauretani, Fulvio; Saginario, Antonio; Ceda, Gian Paolo; Galuppo, Laura; Ruffini, Livia; Nardelli, Anna; Maggio, Marcello

2014-01-01

The term Parkinson's disease has been changed in 'Parkinson's diseases' to describe different clinical entities observed in several studies investigating the existence of PD subtypes. PD patients could be grouped based on clinical features. By considering only motor symptoms, we can classically distinguish two groups: " the tremorigen-form" and "akinetic- rigidity-form" where resting tremor and akinesia/bradikynesia and rigidity are the most motor predominant symptoms, respectively. Non-motor symptoms (NMSs) are practically always present during the course of the disease and some of them (constipation, depressive status, hyposmia and anxiety) could even exist before the onset of classical motor symptoms. Many other NMSs and in particular hallucinations, cognitive impairment, sleep disorders and difficulty in swallowing strongly affect the advanced stage of disease, and represent a real therapeutic challenge when these symptoms are simultaneously present with different severity. If not adequately treated, they can increase the risk of hospitalization and admissions in nursing home, and profoundly and negatively influence the quality of life and participation in social activity of these patients. PD subtypes according to the combination of motor and non-motor symptoms have been recently proposed. This classification derives from cluster analysis which permits to identify statistically distinct subtypes of Parkinsonian patients according to the relevance of both motor and non-motor symptoms. In this point of view, we propose a schematic therapeutic approach of motor and non-motor symptoms in Parkinson's disease according to cluster symptoms presentation (motor and non-motor symptoms) and using medications that act on multiple domains of PD symptoms.

Human papillomavirus-related carcinoma with adenoid cystic-like features: a series of five cases expanding the pathological spectrum.

PubMed

Hang, Jen-Fan; Hsieh, Min-Shu; Li, Wing-Yin; Chen, Jo-Yu; Lin, Shih-Yao; Liu, Shih-Hao; Pan, Chin-Chen; Kuo, Ying-Ju

2017-12-01

Human papillomavirus (HPV)-related carcinoma with adenoid cystic-like features is a newly described entity of the sinonasal tract. In this study, we evaluated histomorphology, immunophenotype and molecular testing to identify potentially helpful features in distinguishing it from classic adenoid cystic carcinoma (AdCC). We retrospectively collected five HPV-related carcinomas with adenoid cystic-like features and 14 AdCCs of the sinonasal tract. All histological slides were retrieved for morphological evaluation. As comparing with AdCC, HPV-related carcinomas with adenoid cystic-like features were associated with squamous dysplasia of surface epithelium (80% versus 0%, P < 0.01) and the presence of a solid growth pattern (100% versus 29%, P = 0.01), but less densely hyalinized tumour stroma (20% versus 86%, P = 0.02). Squamous differentiation in the invasive tumour was seen in three HPV-related carcinomas with adenoid cystic-like features, two of them showing abrupt keratinization and one with scattered non-keratinizing squamous nests. Diffuse p16 staining in ≥75% of tumour cells was noted in all HPV-related carcinomas with adenoid cystic-like features but in only one AdCC (100% versus 7%, P < 0.01). High-risk HPV testing gave positive results in all HPV-related carcinomas with adenoid cystic-like features (four associated with type 33 and one associated with type 16) but not in AdCCs. MYB rearrangement was tested in four HPV-related carcinomas with adenoid cystic-like features, and all were negative. This study has further clarified the histological spectrum of this tumour type, and reports the first HPV type 16-related case. Diffuse p16 staining followed by HPV molecular testing is useful in distinguishing HPV-related carcinomas with adenoid cystic features from classic AdCCs. © 2017 John Wiley & Sons Ltd.

Smoothed quantum-classical states in time-irreversible hybrid dynamics

NASA Astrophysics Data System (ADS)

Budini, Adrián A.

2017-09-01

We consider a quantum system continuously monitored in time which in turn is coupled to an arbitrary dissipative classical system (diagonal reduced density matrix). The quantum and classical dynamics can modify each other, being described by an arbitrary time-irreversible hybrid Lindblad equation. Given a measurement trajectory, a conditional bipartite stochastic state can be inferred by taking into account all previous recording information (filtering). Here, we demonstrate that the joint quantum-classical state can also be inferred by taking into account both past and future measurement results (smoothing). The smoothed hybrid state is estimated without involving information from unobserved measurement channels. Its average over recording realizations recovers the joint time-irreversible behavior. As an application we consider a fluorescent system monitored by an inefficient photon detector. This feature is taken into account through a fictitious classical two-level system. The average purity of the smoothed quantum state increases over that of the (mixed) state obtained from the standard quantum jump approach.

Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.

PubMed

Ros-Pérez, Purificación; Regidor, Francisco J; Colino, Esmeralda; Martínez-Payo, Cristina; Barroso, Eva; Heath, Karen E

2012-06-29

The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY). Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1). Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected.

Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

PubMed Central

2012-01-01

Background The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. Case presentation The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY). Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1). Conclusion Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected. PMID:22747519

Paroxysmal occipital discharges suppressed by eye opening: spectrum of clinical and imaging features at a tertiary care center in India.

PubMed

Kaul, Bhavna; Shukla, Garima; Goyal, Vinay; Srivastava, Achal; Behari, Madhuri

2012-01-01

Paroxysmal occipital discharges (PODs) demonstrating the phenomena of fixation-off sensitivity have classically been described in childhood epilepsies with occipital paroxysms. We attempted to delineate the demographic, clinical and imaging characteristics of patients whose interictal electroencephalograms (EEGs) showed occipital discharges with fixation-off sensitivity at our center. During the period between 2003 and 2005, patients whose interictal EEGs showed PODs were included in the study. A detailed history, clinical examination and EEG findings along with imaging characteristics were analyzed. Of the 9,104 interictal EEGs screened during the study period, 11 patients (6 females and 5 males) aged between 5 and 17 years were identified to have PODs with fixation-off sensitivity. Five had history of generalized tonic-clonic seizures. Three patients could be classified under Panayiotopoulos syndrome; the remaining 8 (72.2%) patients had symptomatic epilepsy. This study suggests that the phenomenon of fixation-off sensitivity is found not only in patients of idiopathic focal epilepsies, but also in a substantial number of patients of symptomatic epilepsy. The high proportion of symptomatic epilepsy with phenomenon of fixation-off sensitivity may be related to the referral pattern.

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis☆

PubMed Central

Pangrazio, Alessandra; Puddu, Alessandro; Oppo, Manuela; Valentini, Maria; Zammataro, Luca; Vellodi, Ashok; Gener, Blanca; Llano-Rivas, Isabel; Raza, Jamal; Atta, Irum; Vezzoni, Paolo; Superti-Furga, Andrea; Villa, Anna; Sobacchi, Cristina

2014-01-01

Autosomal Recessive Osteopetrosis is a genetic disorder characterized by increased bone density due to lack of resorption by the osteoclasts. Genetic studies have widely unraveled the molecular basis of the most severe forms, while cases of intermediate severity are more difficult to characterize, probably because of a large heterogeneity. Here, we describe the use of exome sequencing in the molecular diagnosis of 2 siblings initially thought to be affected by “intermediate osteopetrosis”, which identified a homozygous mutation in the CTSK gene. Prompted by this finding, we tested by Sanger sequencing 25 additional patients addressed to us for recessive osteopetrosis and found CTSK mutations in 4 of them. In retrospect, their clinical and radiographic features were found to be compatible with, but not typical for, Pycnodysostosis. We sought to identify modifier genes that might have played a role in the clinical manifestation of the disease in these patients, but our results were not informative. In conclusion, we underline the difficulties of differential diagnosis in some patients whose clinical appearance does not fit the classical malignant or benign picture and recommend that CTSK gene be included in the molecular diagnosis of high bone density conditions. PMID:24269275

Acute poisoning by pirimicarb: clinical and toxicological features.

PubMed

Hoffmann, Ulrich; Hecker, Ute; Abel, Peter

2008-08-01

Anticholinesterase compounds like organophosphorous and carbamates account for the majority of poisonings by the insecticides class agents. While the toxicokinetic depends on the extent of exposure and also on the chemical structure of the agent, the clinical symptoms range from the classic cholinergic syndrome to flaccid paralysis and intractable seizures. The carbamate ester pirimicarb (Pirimor), a toxic N-dimethylcarbamate pesticide, is used as insecticide. Our case presents the first poisoning associated with clinical and analytical findings. A 68-year-old male ingested an unknown amount of pirimicarb and developed cholinergic symptoms immediately, accompanied by seizures. He was admitted in the Intensive Care Unit (ICU) and received intensive care including intubation for hypoxemia following seizures and drug therapy of hypertensive dysregulation. No Atropine but benzodiazepines were administered. The patient recovered in the ICU after 3 days and was discharged after a week. Pirimicarb stomach, blood, and urine levels were determined on admission and during hospitalisation. Using an one-compartment model the pesticide elimination was estimated and its terminal half-life in plasma, t1/2, was found to be 3.8 hours. The butyryl cholinesterase (BChE) activity was at the lower level of detection on the admission and recovered during the following 24 hours.

Advances in the molecular genetics of gliomas - implications for classification and therapy.

PubMed

Reifenberger, Guido; Wirsching, Hans-Georg; Knobbe-Thomsen, Christiane B; Weller, Michael

2017-07-01

Genome-wide molecular-profiling studies have revealed the characteristic genetic alterations and epigenetic profiles associated with different types of gliomas. These molecular characteristics can be used to refine glioma classification, to improve prediction of patient outcomes, and to guide individualized treatment. Thus, the WHO Classification of Tumours of the Central Nervous System was revised in 2016 to incorporate molecular biomarkers - together with classic histological features - in an integrated diagnosis, in order to define distinct glioma entities as precisely as possible. This paradigm shift is markedly changing how glioma is diagnosed, and has important implications for future clinical trials and patient management in daily practice. Herein, we highlight the developments in our understanding of the molecular genetics of gliomas, and review the current landscape of clinically relevant molecular biomarkers for use in classification of the disease subtypes. Novel approaches to the genetic characterization of gliomas based on large-scale DNA-methylation profiling and next-generation sequencing are also discussed. In addition, we illustrate how advances in the molecular genetics of gliomas can promote the development and clinical translation of novel pathogenesis-based therapeutic approaches, thereby paving the way towards precision medicine in neuro-oncology.

Antibodies to Phosphatidylserine/Prothrombin Complex in Antiphospholipid Syndrome: Analytical and Clinical Perspectives.

PubMed

Peterson, Lisa K; Willis, Rohan; Harris, E Nigel; Branch, Ware D; Tebo, Anne E

2016-01-01

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by thrombosis and/or pregnancy-related morbidity accompanied by persistently positive antiphospholipid antibodies (aPL). Current laboratory criteria for APS classification recommend testing for lupus anticoagulant as well as IgG and IgM anticardiolipin, and beta-2 glycoprotein I (anti-β2GPI) antibodies. However, there appears to be a subset of patients with classical APS manifestations who test negative for the recommended criteria aPL tests. While acknowledging that such patients may have clinical features that are not of an autoimmune etiology, experts also speculate that these "seronegative" patients may test negative for relevant autoantibodies as a result of a lack of harmonization and/or standardization. Alternatively, they may have aPL that target other antigens involved in the pathogenesis of APS. In the latter, autoantibodies that recognize a phosphatidylserine/prothrombin (PS/PT) complex have been reported to be associated with APS and may have diagnostic relevance. This review highlights analytical and clinical attributes associated with PS/PT antibodies, taking into consideration the performance characteristics of criteria aPL tests in APS with specific recommendations for harmonization and standardization efforts. © 2016 Elsevier Inc. All rights reserved.

Follicular vitiligo: A report of 8 cases.

PubMed

Gan, Emily Yiping; Cario-André, Muriel; Pain, Catherine; Goussot, Jean-Francois; Taïeb, Alain; Seneschal, Julien; Ezzedine, Khaled

2016-06-01

Follicular vitiligo, a recently proposed new subtype of vitiligo, has primary involvement of the hair follicle melanocytic reservoir. We sought to characterize follicular vitiligo through a case series of 8 patients. Patients with features of follicular vitiligo who were seen at the vitiligo clinic in the National Center for Rare Skin Disorders in Bordeaux, France, were recruited. A retrospective review of case records and clinical photographs was carried out. There were 8 male patients with a mean age of 48 years. All patients reported significant whitening of their body and, in some, scalp hairs before cutaneous depigmentation. Examination revealed classic generalized depigmented lesions of vitiligo and an impressive presence of leukotrichia, not only in the vitiliginous areas, but also in areas with clinically normal-appearing skin. Punch biopsy specimen of the leukotrichia and vitiligo lesions demonstrated loss of melanocytes and precursors in the basal epidermis and hair follicle. This was a cross-sectional study based on a single-center experience. Follicular vitiligo is a distinct entity within the spectrum of vitiligo. This entity may serve as the missing link between alopecia areata and vitiligo, with probable physiopathological similarities between these conditions. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Current situation and perspectives of clinical study in integrative medicine in china.

PubMed

Wang, Jie; Xiong, Xingjiang

2012-01-01

Integrative medicine is not only an innovative China model in clinical practice, but also the bridge for TCM toward the world. In the past thirty years, great achievements have been made in integrative medicine researches, especially in clinical practice. The clinical achievements mainly include the following three: innovating methodology of disease-syndrome combination, excavating the classical theory in traditional Chinese medicine (TCM), preventing and curing refractory diseases. The development ideas and strategies of integrative medicine for future mainly include (a) standing on frontier field of international medicine and improving the capability of preventing and curing refractory diseases; (b) moving prevention and control strategy forward and improving the curative effect of common and frequent disease; (c) excavating the classical theory of TCM and broadening the treatment system of modern medicine; (d) improving the innovation level of new high effective drugs on the basis of classical prescriptions and herbs in TCM; (e) rerecognizing the theory of formula corresponding to syndrome in TCM and enhancing the level of clinical research evidence based on evidence-based medicine. Integrative medicine will do obtain greater achievements in creating new medicine and pharmacology and make more tremendous contributions for the great rejuvenation of the Chinese nation and human health care.

Classical geometric resolution of the Einstein—Podolsky—Rosen paradox

PubMed Central

Ne'eman, Yuval

1983-01-01

I show that, in the geometry of a fiber bundle describing a gauge theory, curvature and parallel transport ensure and impose nonseparability. The “Einstein—Podolsky—Rosen paradox” is thus resolved “classically.” I conjecture that the ostentatiously “implausible” features of the quantum treatment are due to the fact that space—time separability, a basic assumption of single-particle nonrelativistic quantum mechanics, does not fit the bundle geometry of the complete physics. PMID:16593392

Understanding squeezing of quantum states with the Wigner function

NASA Technical Reports Server (NTRS)

Royer, Antoine

1994-01-01

The Wigner function is argued to be the only natural phase space function evolving classically under quadratic Hamiltonians with time-dependent bilinear part. This is used to understand graphically how certain quadratic time-dependent Hamiltonians induce squeezing of quantum states. The Wigner representation is also used to generalize Ehrenfest's theorem to the quantum uncertainties. This makes it possible to deduce features of the quantum evolution, such as squeezing, from the classical evolution, whatever the Hamiltonian.

A case of Klinefelter syndrome with hypersexual desire

PubMed Central

Perampalam, Sumathy; Barker, Anthony; Nolan, Christopher J

2017-01-01

Klinefelter syndrome (KS) is a chromosomal disorder affecting males, with the typical karyotype of 47,XXY due to a supernumerary X chromosome, which causes progressive testicular failure resulting in androgen deficiency and infertility. Despite it being the most common sex chromosomal disorder, its diagnosis is easily missed. In addition to its classical clinical features of tall stature, gynaecomastia, small testes, and symptoms and signs of hypogonadism including infertility, KS is also often associated with neurocognitive, behavioural and psychiatric disorders. We present a 44-year-old man with KS who, despite having erectile dysfunction, paradoxically had increased libido. He used sildenafil to overcome his erectile dysfunction. Hypersexuality was manifested by very frequent masturbation, multiple sexual partners most of whom were casual, and a sexual offence conviction at the age of 17 years. Discussion focuses on the frequent failure of clinicians to diagnose KS, the neurocognitive, behavioural and psychiatric aspects of KS, this unusual presentation of hypersexuality in a man with KS, and the challenges of medical management of hypogonadism in a man with a history of a sexual offence. Learning points: Klinefelter syndrome (KS) is common in men (about 1 in 600 males), but the diagnosis is very often missed. In addition to classic features of hypogonadism, patients with KS can often have associated neurocognitive, behavioural and/or psychiatric disorders. More awareness of the association between KS and difficulties related to verbal skills in boys could improve rates of early diagnosis and prevent longer-term psychosocial disability. Hypersexuality in the context of hypogonadism raises the possibility of sex steroid independent mechanistic pathways for libido. Testosterone replacement therapy in KS with hypersexuality should be undertaken with caution using a multidisciplinary team approach. PMID:28883919

Latent class analysis reveals clinically relevant atopy phenotypes in 2 birth cohorts.

PubMed

Hose, Alexander J; Depner, Martin; Illi, Sabina; Lau, Susanne; Keil, Thomas; Wahn, Ulrich; Fuchs, Oliver; Pfefferle, Petra Ina; Schmaußer-Hechfellner, Elisabeth; Genuneit, Jon; Lauener, Roger; Karvonen, Anne M; Roduit, Caroline; Dalphin, Jean-Charles; Riedler, Josef; Pekkanen, Juha; von Mutius, Erika; Ege, Markus J

2017-06-01

Phenotypes of childhood-onset asthma are characterized by distinct trajectories and functional features. For atopy, definition of phenotypes during childhood is less clear. We sought to define phenotypes of atopic sensitization over the first 6 years of life using a latent class analysis (LCA) integrating 3 dimensions of atopy: allergen specificity, time course, and levels of specific IgE (sIgE). Phenotypes were defined by means of LCA in 680 children of the Multizentrische Allergiestudie (MAS) and 766 children of the Protection against allergy: Study in Rural Environments (PASTURE) birth cohorts and compared with classical nondisjunctive definitions of seasonal, perennial, and food sensitization with respect to atopic diseases and lung function. Cytokine levels were measured in the PASTURE cohort. The LCA classified predominantly by type and multiplicity of sensitization (food vs inhalant), allergen combinations, and sIgE levels. Latent classes were related to atopic disease manifestations with higher sensitivity and specificity than the classical definitions. LCA detected consistently in both cohorts a distinct group of children with severe atopy characterized by high seasonal sIgE levels and a strong propensity for asthma; hay fever; eczema; and impaired lung function, also in children without an established asthma diagnosis. Severe atopy was associated with an increased IL-5/IFN-γ ratio. A path analysis among sensitized children revealed that among all features of severe atopy, only excessive sIgE production early in life affected asthma risk. LCA revealed a set of benign, symptomatic, and severe atopy phenotypes. The severe phenotype emerged as a latent condition with signs of a dysbalanced immune response. It determined high asthma risk through excessive sIgE production and directly affected impaired lung function. Copyright © 2016 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Is There a Role for Oncotype Dx Testing in Invasive Lobular Carcinoma?

PubMed

Conlon, Niamh; Ross, Dara S; Howard, Jane; Catalano, Jeffrey P; Dickler, Maura N; Tan, Lee K

2015-01-01

Oncotype Dx Breast Cancer Assay is a 21-gene assay used in estrogen receptor (ER)-positive breast cancer to predict benefit from chemotherapy (CT). Tumors are placed into one of three risk categories based on their recurrence score (RS). This paper explores the impact of tumor histopathologic features and Oncotype Dx RS on the treatment plan for invasive lobular carcinoma (ILC). Invasive lobular carcinoma cases submitted for Oncotype Dx testing were identified from a clinical data base. The histopathologic and immunohistochemical features and RS subcategory of each tumor, and treatment regimen and medical oncologic assessments of each patient were reviewed. A total of 135 cases of ILC had RS testing, which represented 15% of all ILC diagnosed at the institution over the time period. 80% of ILC was of the classical subtype and all tumors were ER positive and human epidermal growth factor receptor 2 (HER-2) negative by immunohistochemistry. Sixty three percent of cases were low risk (LR), 35.5% were intermediate risk (IR) and 1.5% were high risk (HR). Both HR cases were pleomorphic ILC. Sixty eight percent of classical ILC had a LR score, while 70% of pleomorphic ILC had an IR score. Patients in the IR category were significantly more likely to undergo CT than patients in the LR category (54% versus 18%; p < 0.0001). In the LR category, those undergoing CT were significantly younger and more likely to have positive lymph nodes (p < 0.05). Qualitative analysis of medical oncologic assessments showed that RS played a role in decision-making on CT in 74% of cases overall. At our institution, Oncotype Dx RS currently plays a role in the management of a proportion of ILC and impacts on treatment decisions. © 2015 Wiley Periodicals, Inc.

[A novel homozygous mutation p.E25X in the HSD3B2 gene causing salt wasting 3β-hydroxysteroid dehydrogenases deficiency in a Chinese pubertal girl: a delayed diagnosis until recurrent ovary cysts].

PubMed

Huang, Yonglan; Zheng, Jipeng; Xie, Ting; Xiao, Qing; Lu, Shaomei; Li, Xiuzhen; Cheng, Jing; Chen, Lihe; Liu, Li

2014-12-01

3β- hydroxysteroid dehydrogenase deficiency (3βHSD), a rare form of congenital adrenal hyperplasia (CAH) resulted from mutations in the HSD3B2 gene that impair steroidogenesis in both adrenals and gonads. We report clinical features and the results of HSD3B2 gene analysis of a Chinese pubertal girl with salt wasting 3βHSD deficiency. We retrospectively reviewed clinical presentations and steroid profiles of the patient diagnosed in Guangzhou Women and Children's Medical Center in 2013. PCR and direct sequencing were used to identify any mutation in the HSD3B2 gene. A 13-year-old girl was diagnosed as CAH after birth because of salt-wasting with mild clitorimegaly and then was treated with glucocorticoid replacement. Breast and pubic hair development were normal, and menarche occurred at 12 yr, followed by menstrual bleeding about every 45 days. In the last one year laparoscopic operation and ovariocentesis were performed one after another for recurrent ovary cysts. Under corticoid acetate therapy, ACTH 17.10 pmol/L (normal 0-10.12), testosterone 1.31 nmol/L (normal <0.7), dehydroepiandrosterone sulfate 13.30 µmol/L (normal 0.95 - 11.67), cortisol 720 nmol/L (normal 130-772.8), androstenedione, 17-hydroxyprogesterone and progesterone were normal. Estradiol 461 pmol/L, follicle-stimulating hormone 3.04 IU/L, luteinizing hormone 8.52 IU/L in follicular phase. A pelvic ultrasound showed lateral ovaries cysts (58 mm × 50 mm × 35 mm) and a midcycle-type endometrium. A novel nonsense mutation c.73G >T (p.E25X) was identified in HSD3B2 gene. The girl was homozygous and her mother was heterozygous, while her father was not identified with this mutation. A classic 3βHSD deficiency is characterized by salt wasting and mild virilization in female. Ovary cysts may be the one of features of gonad phenotype indicating ovary 3βHSD deficiency. A novel homozygous mutation c.73G >T(p.E25X) was related to the classical phenotype.

Clinical application of the basic definition of malnutrition proposed by the European Society for Clinical Nutrition and Metabolism (ESPEN): Comparison with classical tools in geriatric care.

PubMed

Sánchez-Rodríguez, Dolores; Annweiler, Cédric; Ronquillo-Moreno, Natalia; Tortosa-Rodríguez, Andrea; Guillén-Solà, Anna; Vázquez-Ibar, Olga; Escalada, Ferran; Muniesa, Josep M; Marco, Ester

Malnutrition is a prevalent condition related to adverse outcomes in older people. Our aim was to compare the diagnostic capacity of the malnutrition criteria of the European Society of Parenteral and Enteral Nutrition (ESPEN) with other classical diagnostic tools. Cohort study of 102 consecutive in-patients ≥70 years admitted for postacute rehabilitation. Patients were considered malnourished if their Mini-Nutritional Assessment-Short Form (MNA-SF) score was ≤11 and serum albumin <3 mg/dL or MNA-SF ≤ 11, serum albumin <3 mg/dL, and usual clinical signs and symptoms of malnutrition. Sensitivity, specificity, positive and negative predictive values, accuracy likelihood ratios, and kappa values were calculated for both methods: and compared with ESPEN consensus. Of 102 eligible in-patients, 88 fulfilled inclusion criteria and were identified as "at risk" by MNA-SF. Malnutrition diagnosis was confirmed in 11.6% and 10.5% of the patients using classical methods,whereas 19.3% were malnourished according to the ESPEN criteria. Combined with low albumin levels, the diagnosis showed 57.9% sensitivity, 64.5% specificity, 85.9% negative predictive value,0.63 accuracy (fair validity, low range), and kappa index of 0.163 (poor ESPEN agreement). The combination of MNA-SF, low albumin, and clinical malnutrition showed 52.6% sensitivity, 88.3% specificity, 88.3%negative predictive value, and 0.82 accuracy (fair validity, low range), and kappa index of 0.43 (fair ESPEN agreement). Malnutrition was almost twice as prevalent when diagnosed by the ESPEN consensus, compared to classical assessment methods: Classical methods: showed fair validity and poor agreement with the ESPEN consensus in assessing malnutrition in geriatric postacute care. Copyright © 2018 Elsevier B.V. All rights reserved.

Palmoplantar keratoderma with progressive gingivitis and recurrent pyodermas.

PubMed

Moss, Tyler A; Spillane, Anne P; Almquist, Sam F; McCleskey, Patrick E; Wisco, Oliver J

2014-04-01

Papillon-Lefèvre syndrome (PLS) is a rare inherited palmoplantar keratoderma (PPK) that is associated with progressive gingivitis and recurrent pyodermas. We present a case exhibiting classic features of this autosomal-recessive condition and review the current understanding of its pathophysiology, diagnosis, and treatment. Additionally, a review of pertinent transgredient PPKs is undertaken, with key and distinguishing features of each syndrome highlighted.

Unconscious automatic brain activation of acoustic and action-related conceptual features during masked repetition priming.

PubMed

Trumpp, Natalie M; Traub, Felix; Pulvermüller, Friedemann; Kiefer, Markus

2014-02-01

Classical theories of semantic memory assume that concepts are represented in a unitary amodal memory system. In challenging this classical view, pure or hybrid modality-specific theories propose that conceptual representations are grounded in the sensory-motor brain areas, which typically process sensory and action-related information. Although neuroimaging studies provided evidence for a functional-anatomical link between conceptual processing of sensory or action-related features and the sensory-motor brain systems, it has been argued that aspects of such sensory-motor activation may not directly reflect conceptual processing but rather strategic imagery or postconceptual elaboration. In the present ERP study, we investigated masked effects of acoustic and action-related conceptual features to probe unconscious automatic conceptual processing in isolation. Subliminal feature-specific ERP effects at frontocentral electrodes were observed, which differed with regard to polarity, topography, and underlying brain electrical sources in congruency with earlier findings under conscious viewing conditions. These findings suggest that conceptual acoustic and action representations can also be unconsciously accessed, thereby excluding any postconceptual strategic processes. This study therefore further substantiates a grounding of conceptual and semantic processing in action and perception.

Classical phenotype of Laron syndrome in a girl with a heterozygous mutation and heterozygous polymorphism of the growth hormone receptor gene.

PubMed

Shevah, Orit; Galli-Tsinopoulou, Assimina; Rubinstein, Menachem; Nousia-Arvanitakis, Sanda; Laron, Zvi

2004-03-01

We describe here a 19 month-old girl with classical Laron syndrome (LS). Molecular analysis of the GH receptor gene in the patient and her parents was performed. The patient was found to be heterozygous for a mutation in exon 4 (R43X) and heterozygous for a polymorphism in exon 6 (Gly168Gly). Her mother was also heterozygous for R43X but homozygous for the polymorphism. In the father, a heterozygous polymorphism was found. Contrary to previous assumptions that only homozygous patients express the typical phenotype, this patient shows all the classical features of LS, despite being a heterozygote for a pathological defect.

Computational method for exact frequency-dependent rays on the basis of the solution of the Helmholtz equation

NASA Astrophysics Data System (ADS)

Protasov, M.; Gadylshin, K.

2017-07-01

A numerical method is proposed for the calculation of exact frequency-dependent rays when the solution of the Helmholtz equation is known. The properties of frequency-dependent rays are analysed and compared with classical ray theory and with the method of finite-difference modelling for the first time. In this paper, we study the dependence of these rays on the frequency of signals and show the convergence of the exact rays to the classical rays with increasing frequency. A number of numerical experiments demonstrate the distinctive features of exact frequency-dependent rays, in particular, their ability to penetrate into shadow zones that are impenetrable for classical rays.

Overuse Injuries in Professional Ballet

PubMed Central

Sobrino, Francisco José; de la Cuadra, Crótida; Guillén, Pedro

2015-01-01

Background Despite overuse injuries being previously described as the most frequent in ballet, there are no studies on professional dancers providing the specific clinical diagnoses or type of injury based on the discipline. Hypothesis Overuse injuries are the most frequent injuries in ballet, with differences in the type and frequency of injuries based on discipline. Study Design Cross-sectional study; Level of evidence, 3. Methods This was a descriptive cross-sectional study performed between January 1, 2005, and October 10, 2010, on injuries occurring in professional dancers from leading Spanish dance companies who practiced disciplines such as classical, neoclassical, contemporary, and Spanish ballet. Data, including type of injury, were obtained from specialized medical services at the Trauma Service, Fremap, Madrid, Spain. Results A total of 486 injuries were evaluated, a significant number of which were overuse disorders (P < .0001), especially in the most technically demanding discipline of classical ballet (82.60%). Injuries were more frequent among female dancers (75.90%) and classical ballet (83.60%). A statistically significant prevalence of patellofemoral pain syndrome was found in the classical discipline (P = .007). Injuries of the adductor muscles of the thigh (P = .001) and of the low back facet (P = .02) in the Spanish ballet discipline and lateral snapping hip (P = .02) in classical and Spanish ballet disciplines were significant. Conclusion Overuse injuries were the most frequent injuries among the professional dancers included in this study. The prevalence of injuries was greater for the most technically demanding discipline (classical ballet) as well as for women. Patellofemoral pain syndrome was the most prevalent overuse injury, followed by Achilles tendinopathy, patellar tendinopathy, and mechanical low back pain. Clinical Relevance Specific clinical diagnoses and injury-based differences between the disciplines are a key factor in ballet. PMID:26665100

Potential oxidative stress biomarkers of mild cognitive impairment due to Alzheimer disease.

PubMed

García-Blanco, Ana; Baquero, Miguel; Vento, Máximo; Gil, Esperanza; Bataller, Luis; Cháfer-Pericás, Consuelo

2017-02-15

The high and increasing incidence of Alzheimer Disease (AD) worldwide is a major global concern. Classical diagnosis is carried out in the dementia phase, often in the moderate stages when treatment efficacy is limited. Nowadays, early diagnosis, even in pre-dementia stages, is possible in selected cases within an appropriate clinical setting, employing cerebral spinal fluid (CSF) sample analysis and neuroimaging procedures. In spite of the accurate diagnosis achieved by novel CSF biomarkers or positron emission tomography beta-amyloid tracers, these tests are invasive and expensive. Therefore, important work is being carried out to discover reliable biomarkers in peripheral biofluids (blood, plasma, urine) to be incorporated in clinical routine for early AD diagnosis. Although the nature of AD pathogenesis is complex, it is known that oxidative stress plays a key role, for which biomarkers are easily determined in peripheral biofluids. This review summarizes recent research on oxidative stress biomarkers in mild cognitive impairment due to AD. Among them, a promising research line is the study of the relationship between lipid peroxidation biomarkers and early AD clinical features. Results show a pronounced imbalance between scientific production and clinical reality due to the lack of clinical validation. We conclude that an important field in oxidative stress biomarkers could be developed with the aim to help clinicians in early disease diagnosis, effective treatment initiation and reliable disease monitoring. Copyright © 2017 Elsevier B.V. All rights reserved.

Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease.

PubMed

Alharbi, Fahad J; Baig, Shanat; Auray-Blais, Christiane; Boutin, Michel; Ward, Douglas G; Wheeldon, Nigel; Steed, Rick; Dawson, Charlotte; Hughes, Derralynn; Geberhiwot, Tarekegn

2018-03-01

Fabry disease (FD) is a multi-systemic X-linked lysosomal disorder caused by the deficient activity of α-galactosidase-A enzyme, which leads to accumulation of glycosphingolipids in various body tissues. The N215S mutation is a known variant of FD, with a late onset cardiac phenotype. Consensus guidelines acknowledged the use of globotriaosylsphingosine (Lyso-Gb 3 ) as a diagnostic marker for classical FD but its utility for cardiac variant FD is not clear. We aim to characterize the clinical features and evaluate the diagnostic accuracy of plasma and urinary Lyso-Gb 3 levels in N215S cardiac variant FD patients. Thirty-four FD patients with the late-onset N215S cardiac variant mutation were enrolled along with 62 classical FD patients and 109 healthy controls. Plasma and urinary Lyso-Gb 3 and its analogues were analyzed by LC-MS/MS. Both FD males and females with N215S mutation showed Lyso-Gb 3 levels of (mean ± SEM) 9.7 ± 1.0 and 5.4 ± 0.8 nM, respectively. These levels were significantly higher than healthy control and lower than classical FD patients (p < 0.0001). Plasma Lyso-Gb 3 levels equal to or higher than 2.7 nM yielded a diagnostic sensitivity and specificity of 100% (AUC = 1, p < 0.0001). Cardiac involvement was frequent with 16/34 (47%) developing left ventricular hypertrophy. Three patients who underwent renal biopsy had the characteristic sphingolipid deposition in the podocytes while 6/19 (32%) had evidence of white matter changes or infarct on brain MRI. Taken together, cardiac variant N215S mutation is rather an attenuated form of classical FD. Plasma Lyso-Gb 3 is a diagnostic hallmark to differentiate N215S variant phenotype from subjects with no FD.

Predictors of positive 18F-FDG PET/CT-scan for large vessel vasculitis in patients with persistent polymyalgia rheumatica.

PubMed

Prieto-Peña, Diana; Martínez-Rodríguez, Isabel; Loricera, Javier; Banzo, Ignacio; Calderón-Goercke, Mónica; Calvo-Río, Vanesa; González-Vela, Carmen; Corrales, Alfonso; Castañeda, Santos; Blanco, Ricardo; Hernández, José L; González-Gay, Miguel Á

2018-05-18

Polymyalgia rheumatica (PMR) is often the presenting manifestation of giant cell arteritis (GCA). Fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography (PET/CT) scan often discloses the presence of large vessel vasculitis (LVV) in PMR patients. We aimed to identify predictive factors of a positive PET/CT scan for LVV in patients classified as having isolated PMR according to well-established criteria. A set of consecutive patients with PMR from a single hospital were assessed. All of them underwent PET/CT scan between January 2010 and February 2018 based on clinical considerations. Patients with PMR associated to other diseases, including those with cranial features of GCA, were excluded. The remaining patients were categorized in classic PMR (if fulfilled the 2012 EULAR/ACR classification criteria at disease diagnosis; n = 84) or atypical PMR (who did not fulfill these criteria; n = 16). Only information on patients with classic PMR was assessed. The mean age of the 84 patients (51 women) with classic PMR was 71.4 ± 9.2 years. A PET/CT scan was positive in 51 (60.7%). Persistence of classic PMR symptoms was the most common reason to perform a PET/CT scan. Nevertheless, patients with positive PET/CT scan often had unusual symptoms. The best set of predictors of a positive PET/CT scan were bilateral diffuse lower limb pain (OR = 8.8, 95% CI: 1.7-46.3; p = 0.01), pelvic girdle pain (OR = 4.9, 95% CI: 1.50-16.53; p = 0.01) and inflammatory low back pain (OR = 4.7, 95% CI: 1.03-21.5; p = 0.04). Inflammatory low back pain, pelvic girdle and diffuse lower limb pain are predictors of positive PET/CT scan for LVV in PMR. Copyright © 2018 Elsevier Inc. All rights reserved.

Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.

PubMed

Gal, A; Veske, A; Jojart, G; Grammatico, B; Huber, B; Gu, S; del Porto, G; Senyi, K

1996-01-01

Norrie-Warburg syndrome (NWS) is a rare X-linked disorder characterized by blindness, which is invariable, deafness and mental disturbances, which are present occasionally. We describe here two novel mutations, a missense mutation (C126S) and a 1-base pair insertion (insT466/T467), together with a recurrent mutation (M1V), found in patients presenting with the classical clinical phenotype of NWS. All three mutations are likely to result in prominent structural changes of the norrin protein.

Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.

PubMed

Maruyama, Hiroki; Miyata, Kaori; Mikame, Mariko; Taguchi, Atsumi; Guili, Chu; Shimura, Masaru; Murayama, Kei; Inoue, Takeshi; Yamamoto, Saori; Sugimura, Koichiro; Tamita, Koichi; Kawasaki, Toshihiro; Kajihara, Jun; Onishi, Akifumi; Sugiyama, Hitoshi; Sakai, Teiko; Murata, Ichijiro; Oda, Takamasa; Toyoda, Shigeru; Hanawa, Kenichiro; Fujimura, Takeo; Ura, Shigehisa; Matsumura, Mimiko; Takano, Hideki; Yamashita, Satoshi; Matsukura, Gaku; Tazawa, Ryushi; Shiga, Tsuyoshi; Ebato, Mio; Satoh, Hiroshi; Ishii, Satoshi

2018-03-15

PurposePlasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.MethodsBetween 1 July 2014 and 31 December 2015, we screened 2,360 patients (1,324 males) referred from 169 Japanese specialty clinics (cardiology, nephrology, neurology, and pediatrics), based on clinical symptoms suggestive of Fabry disease. We used the plasma lyso-Gb3 concentration, α-galactosidase A (α-Gal A) activity, and analysis of the α-Gal A gene (GLA) for primary and secondary screens, respectively.ResultsOf 8 males with elevated lyso-Gb3 levels (≥2.0 ng ml -1 ) and low α-Gal A activity (≤4.0 nmol h -1  ml -1 ), 7 presented a GLA mutation (2 classic and 5 late-onset). Of 15 females with elevated lyso-Gb3, 7 displayed low α-Gal A activity (5 with GLA mutations; 4 classic and 1 late-onset) and 8 exhibited normal α-Gal A activity (1 with a classic GLA mutation and 3 with genetic variants of uncertain significance).ConclusionPlasma lyso-Gb3 is a potential primary screening biomarker for classic and late-onset Fabry disease probands.Genet Med advance online publication, 15 March 2018; doi:10.1038/gim.2018.31.

Differences in subependymal vein anatomy may predispose preterm infants to GMH-IVH.

PubMed

Tortora, Domenico; Severino, Mariasavina; Malova, Mariya; Parodi, Alessandro; Morana, Giovanni; Sedlacik, Jan; Govaert, Paul; Volpe, Joseph J; Rossi, Andrea; Ramenghi, Luca Antonio

2018-01-01

The anatomy of the deep venous system plays an important role in the pathogenesis of brain lesions in the preterm brain as shown by different histological studies. The aims of this study were to compare the subependymal vein anatomy of preterm neonates with germinal matrix haemorrhage-intraventricular haemorrhage (GMH-IVH), as evaluated by susceptibility-weighted imaging (SWI) venography, with a group of age-matched controls with normal brain MRI, and to explore the relationship between the anatomical features of subependymal veins and clinical risk factors for GMH-IVH. SWI venographies of 48 neonates with GMH-IVH and 130 neonates with normal brain MRI were retrospectively evaluated. Subependymal vein anatomy was classified into six different patterns: type 1 represented the classic pattern and types 2-6 were considered anatomic variants. A quantitative analysis of the venous curvature index was performed. Variables were analysed by using Mann-Whitney U and χ 2 tests, and a multiple logistic regression analysis was performed to evaluate the association between anatomical features, clinical factors and GMH-IVH. A significant difference was noticed among the six anatomical patterns according to the presence of GMH-IVH (χ 2 =14.242, p=0.014). Anatomic variants were observed with higher frequency in neonates with GMH-IVH than in controls (62.2% and 49.6%, respectively). Neonates with GMH-IVH presented a narrower curvature of the terminal portion of subependymal veins (p<0.05). These anatomical features were significantly associated with GMH-IVH (p<0.05). Preterm neonates with GMH-IVH show higher variability of subependymal veins anatomy confirming a potential role as predisposing factor for GMH-IVH. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

PubMed

Wilson, Gabrielle R; Sim, Joe C H; McLean, Catriona; Giannandrea, Maila; Galea, Charles A; Riseley, Jessica R; Stephenson, Sarah E M; Fitzpatrick, Elizabeth; Haas, Stefan A; Pope, Kate; Hogan, Kirk J; Gregg, Ronald G; Bromhead, Catherine J; Wargowski, David S; Lawrence, Christopher H; James, Paul A; Churchyard, Andrew; Gao, Yujing; Phelan, Dean G; Gillies, Greta; Salce, Nicholas; Stanford, Lynn; Marsh, Ashley P L; Mignogna, Maria L; Hayflick, Susan J; Leventer, Richard J; Delatycki, Martin B; Mellick, George D; Kalscheuer, Vera M; D'Adamo, Patrizia; Bahlo, Melanie; Amor, David J; Lockhart, Paul J

2014-12-04

Advances in understanding the etiology of Parkinson disease have been driven by the identification of causative mutations in families. Genetic analysis of an Australian family with three males displaying clinical features of early-onset parkinsonism and intellectual disability identified a ∼45 kb deletion resulting in the complete loss of RAB39B. We subsequently identified a missense mutation (c.503C>A [p.Thr168Lys]) in RAB39B in an unrelated Wisconsin kindred affected by a similar clinical phenotype. In silico and in vitro studies demonstrated that the mutation destabilized the protein, consistent with loss of function. In vitro small-hairpin-RNA-mediated knockdown of Rab39b resulted in a reduction in the density of α-synuclein immunoreactive puncta in dendritic processes of cultured neurons. In addition, in multiple cell models, we demonstrated that knockdown of Rab39b was associated with reduced steady-state levels of α-synuclein. Post mortem studies demonstrated that loss of RAB39B resulted in pathologically confirmed Parkinson disease. There was extensive dopaminergic neuron loss in the substantia nigra and widespread classic Lewy body pathology. Additional pathological features included cortical Lewy bodies, brain iron accumulation, tau immunoreactivity, and axonal spheroids. Overall, we have shown that loss-of-function mutations in RAB39B cause intellectual disability and pathologically confirmed early-onset Parkinson disease. The loss of RAB39B results in dysregulation of α-synuclein homeostasis and a spectrum of neuropathological features that implicate RAB39B in the pathogenesis of Parkinson disease and potentially other neurodegenerative disorders. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Anxiety in Parkinson's disease: a critical review of experimental and clinical studies.

PubMed

Prediger, Rui D S; Matheus, Filipe C; Schwarzbold, Marcelo L; Lima, Marcelo M S; Vital, Maria A B F

2012-01-01

Parkinson's disease (PD) is the second most common neurodegenerative disorder affecting about 1% of the population older than 60 years. Classically, PD is considered as a movement disorder, and its diagnosis is based on the presence of a set of cardinal motor signs that are the consequence of a pronounced death of dopaminergic neurons in the substantia nigra pars compacta. There is now considerable evidence showing that the neurodegenerative processes leading to sporadic PD begin many years before the appearance of the characteristic motor symptoms, and that additional neuronal fields and neurotransmitter systems are also involved in PD, including olfactory structures, amygdala, caudal raphe nuclei, locus coeruleus, and hippocampus. Accordingly, adrenergic and serotonergic neurons are also lost, which seems to contribute to the anxiety in PD. Non-motor features of PD usually do not respond to dopaminergic medication and probably form the major current challenge in the clinical management of PD. Additionally, most studies performed with animal models of PD have investigated their ability to induce motor alterations associated with advanced phases of PD, and some studies begin to assess non-motor behavioral features of the disease. The present review attempts to examine results obtained from clinical and experimental studies to provide a comprehensive picture of the neurobiology and current and potential treatments for anxiety in PD. The data reviewed here indicate that, despite their high prevalence and impact on the quality of life, anxiety disorders are often under-diagnosed and under-treated in PD patients. Moreover, there are currently few clinical and pre-clinical studies underway to investigate new pharmacological agents for relieving these symptoms, and we hope that this article may inspire clinicians and researchers devote to the studies on anxiety in PD to change this scenario. This article is part of a Special Issue entitled 'Anxiety and Depression'. Copyright © 2011 Elsevier Ltd. All rights reserved.

Relapsed Acute Promyelocytic Leukemia Lacks "Classic" Leukemic Promyelocyte Morphology and Can Create Diagnostic Challenges.

PubMed

Dayton, Vanessa J; McKenna, Robert W; Yohe, Sophia L; Dolan, Michelle M; Courville, Elizabeth; Alvarez, Harold; Linden, Michael A

2017-01-01

Although current therapies for acute promyelocytic leukemia (APL), such as all- trans retinoic acid and arsenic trioxide, usually result in remission, some patients relapse. Early recognition of relapse is critical for prompt intervention. In this study, we systematically reviewed morphologic, immunophenotypic, and cytogenetic findings in paired diagnostic and relapsed APL cases and describe and quantify the changes in blast morphology at relapse. By electronic database search, we identified eight paired diagnostic and relapsed APL cases for which peripheral blood or bone marrow smears were available for review. For two cases, diagnostic material was available for relapse after hematopoietic cell transplantation. Neoplastic hypergranular or microgranular promyelocytes with indented or bivalve nuclei predominated at diagnosis in all patients. Most patients had undifferentiated blasts at relapse and/or hypergranular blast equivalents with round to oval nuclei. Classic acute promyelocytic leukemia cells with bivalve nuclei and bundles of cytoplasmic Auer rods were easily identifiable in fewer than half of cases at diagnosis and rare to absent in all relapsed cases. Morphologic features of relapsed APL overlap with other types of acute myeloid leukemia, creating diagnostic challenges, especially if no history is available when relapsing patients seek treatment for care. © American Society for Clinical Pathology, 2017. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not?

PubMed

Schubert, V; Bender, B; Kinzel, M; Peters, N; Freilinger, T

2018-06-01

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) represents the most common monogenic cause of adult-onset ischemic stroke and vascular dementia. It is caused by heterozygous missense mutations in the NOTCH3 gene, encoding a transmembrane receptor protein on vascular smooth muscle cells. Classical CADASIL mutations affect conserved cysteine residues of the Notch3 protein. By contrast, the role of non-canonical genetic variation in NOTCH3, in particular of variants causing a hypomorphic Notch3 protein, is subject to an ongoing scientific debate. In this context, we here report a novel NOTCH3 frameshift variant in exon 18 (NM_000435.2: c.2853_2857delTCCCG), causing a frameshift and introducing a premature stop codon, which was detected in a 43-year-old woman and her father. Both carriers of the variant were carefully evaluated, including serial follow-up in the index. Neither clinical nor imaging features provided convincing evidence for a classical CADASIL phenotype, thus reinforcing the concept of hypomorphic NOTCH3 variants most likely not being causative for CADASIL. Our finding, which is discussed in the light of the published literature, has practical implications for interpreting results of NOTCH3 molecular genetic testing as well as patient counseling.

Metrics and textural features of MRI diffusion to improve classification of pediatric posterior fossa tumors.

PubMed

Rodriguez Gutierrez, D; Awwad, A; Meijer, L; Manita, M; Jaspan, T; Dineen, R A; Grundy, R G; Auer, D P

2014-05-01

Qualitative radiologic MR imaging review affords limited differentiation among types of pediatric posterior fossa brain tumors and cannot detect histologic or molecular subtypes, which could help to stratify treatment. This study aimed to improve current posterior fossa discrimination of histologic tumor type by using support vector machine classifiers on quantitative MR imaging features. This retrospective study included preoperative MRI in 40 children with posterior fossa tumors (17 medulloblastomas, 16 pilocytic astrocytomas, and 7 ependymomas). Shape, histogram, and textural features were computed from contrast-enhanced T2WI and T1WI and diffusivity (ADC) maps. Combinations of features were used to train tumor-type-specific classifiers for medulloblastoma, pilocytic astrocytoma, and ependymoma types in separation and as a joint posterior fossa classifier. A tumor-subtype classifier was also produced for classic medulloblastoma. The performance of different classifiers was assessed and compared by using randomly selected subsets of training and test data. ADC histogram features (25th and 75th percentiles and skewness) yielded the best classification of tumor type (on average >95.8% of medulloblastomas, >96.9% of pilocytic astrocytomas, and >94.3% of ependymomas by using 8 training samples). The resulting joint posterior fossa classifier correctly assigned >91.4% of the posterior fossa tumors. For subtype classification, 89.4% of classic medulloblastomas were correctly classified on the basis of ADC texture features extracted from the Gray-Level Co-Occurence Matrix. Support vector machine-based classifiers using ADC histogram features yielded very good discrimination among pediatric posterior fossa tumor types, and ADC textural features show promise for further subtype discrimination. These findings suggest an added diagnostic value of quantitative feature analysis of diffusion MR imaging in pediatric neuro-oncology. © 2014 by American Journal of Neuroradiology.

Therapeutic mechanisms of classic hallucinogens in the treatment of addictions: from indirect evidence to testable hypotheses.

PubMed

Bogenschutz, Michael P; Pommy, Jessica M

2012-01-01

Alcohol and drug addiction are major public health problems, and existing treatments are only moderately effective. Although there has been interest for over half a century in the therapeutic use of classic hallucinogens to treat addictions, clinical research with these drugs was halted at an early stage in the early 1970s, leaving many fundamental questions unanswered. In the past two decades, clinical research on classic hallucinogens has resumed, although addiction treatment trials are only now beginning. The purpose of this paper is to provide a targeted review of the research most relevant to the therapeutic potential of hallucinogens, and to integrate this information with current thinking about addiction and recovery. On the basis of this information, we present a heuristic model which organizes a number of hypotheses that may be tested in future research. We conclude that existing evidence provides a convincing rationale for further research on the effects of classic hallucinogens in the treatment of addiction. Copyright © 2012 John Wiley & Sons, Ltd.

Partial Hypopituitarism, Hypoglycemia, and Hyperlipemia in Albright's Dystrophy

ERIC Educational Resources Information Center

Sareen, C. K.; And Others

1974-01-01

The cases of two mentally retarded adult siblings with the classical features of Albright's osteodystrophy (a disease with characteristics such as short stature and abnormal sexual development) were reported. (Author/DB)

Effects of foot massage applied in two different methods on symptom control in colorectal cancer patients: Randomised control trial.

PubMed

Uysal, Neşe; Kutlutürkan, Sevinç; Uğur, Işıl

2017-06-01

This randomized controlled clinical study aimed to determine the effect of 2 foot massage methods on symptom control in people with colorectal cancer who received chemoradiotherapy. Data were collected between June 16, 2015, and February 10, 2016, in the Department of Radiation Oncology of an oncology training and research hospital. The sample comprised 60 participants. Data were collected using an introductory information form, common terminology criteria for adverse events and European Organization for Research and Treatment of Cancer Quality of Life Questionnaires C30 and CR29. Participants were randomly allocated to 3 groups: classical foot massage, reflexology, and standard care control. The classical massage group received foot massage using classical massage techniques, and the reflexology group received foot reflexology focusing on symptom-oriented reflexes twice a week during a 5-week chemoradiotherapy treatment schedule. The control group received neither classical massage nor reflexology. All patients were provided with the same clinic routine care. The classical massage was effective in reducing pain level and distension incidence while foot reflexology was effective in reducing pain and fatigue level, lowering incidence of distension and urinary frequency and improving life quality. © 2017 John Wiley & Sons Australia, Ltd.

Effect of the parental origin of the X-chromosome on the clinical features, associated complications, the two-year-response to growth hormone (rhGH) and the biochemical profile in patients with turner syndrome

PubMed Central

2013-01-01

Background It is possible that genes on the X chromosome are expressed differently depending of its parental origin. The objective of this study was to determine the influence of the parental origin of the X-chromosome on phenotypic variability, response to rhGH and on the biochemical profile of TS patients. Methods This was a cross-sectional multicenter correlational study carried out over three years in six Latin-American university hospitals. Unrelated 45,X TS patients (n =  93; 18.3 ± 8.5 years )) were evaluated. A subgroup (n =  34) of the patients were prospectively treated with rhGH over two years. DNA profiles of patients and their mothers were compared to determine the parental origin of the retained X-chromosome through 10 polymorphic X-chromosome-STRs. The association with clinical features, biochemical profiles and anthropometric data at the beginning and after two years of rhGH treatment was determined. Results Seventy two percent of patients retained the maternal X chromosome (Xm). A trend towards significance between maternal height and patients final height (p ≤ 0.07) in 45,Xm subjects was observed. There was no correlation between paternal height and patient height. No differences were detected between both groups in regard to dysmorphic features, classical malformations or increase in the height-SDS after rhGH. There were higher levels of triglycerides, total and LDL cholesterol in patients >20 years who retained the Xm. Conclusions The parental origin of the retained X chromosome may influence lipid metabolism in TS patients, but its effect on growth seems to be minimal. No parental-origin-effect on the phenotypic features, associated anomalies and on the growth response to rhGH was found in 45,X TS individuals. PMID:23731950

Non-Markovianity hinders Quantum Darwinism.

PubMed

Galve, Fernando; Zambrini, Roberta; Maniscalco, Sabrina

2016-01-20

We investigate Quantum Darwinism and the emergence of a classical world from the quantum one in connection with the spectral properties of the environment. We use a microscopic model of quantum environment in which, by changing a simple system parameter, we can modify the information back flow from environment into the system, and therefore its non-Markovian character. We show that the presence of memory effects hinders the emergence of classical objective reality, linking these two apparently unrelated concepts via a unique dynamical feature related to decoherence factors.

Non-Markovianity hinders Quantum Darwinism

NASA Astrophysics Data System (ADS)

Galve, Fernando; Zambrini, Roberta; Maniscalco, Sabrina

2016-01-01

We investigate Quantum Darwinism and the emergence of a classical world from the quantum one in connection with the spectral properties of the environment. We use a microscopic model of quantum environment in which, by changing a simple system parameter, we can modify the information back flow from environment into the system, and therefore its non-Markovian character. We show that the presence of memory effects hinders the emergence of classical objective reality, linking these two apparently unrelated concepts via a unique dynamical feature related to decoherence factors.

Non-Markovianity hinders Quantum Darwinism

PubMed Central

Galve, Fernando; Zambrini, Roberta; Maniscalco, Sabrina

2016-01-01

We investigate Quantum Darwinism and the emergence of a classical world from the quantum one in connection with the spectral properties of the environment. We use a microscopic model of quantum environment in which, by changing a simple system parameter, we can modify the information back flow from environment into the system, and therefore its non-Markovian character. We show that the presence of memory effects hinders the emergence of classical objective reality, linking these two apparently unrelated concepts via a unique dynamical feature related to decoherence factors. PMID:26786857

Nonclassical light revealed by the joint statistics of simultaneous measurements.

PubMed

Luis, Alfredo

2016-04-15

Nonclassicality cannot be a single-observable property, since the statistics of any quantum observable is compatible with classical physics. We develop a general procedure to reveal nonclassical behavior of light states from the joint statistics arising in the practical measurement of multiple observables. Beside embracing previous approaches, this protocol can disclose nonclassical features for standard examples of classical-like behavior, such as SU(2) and Glauber coherent states. When combined with other criteria, this would imply that every light state is nonclassical.

Extinction Phenomena: A Biologic Perspective on How and Why Psychoanalysis Works

PubMed Central

Brakel, Linda A. W.

2011-01-01

This article presents the view that much of the success of classical psychoanalysis is centrally predicated on its biological potency; focusing not on neuropsychology, but on the biology of conditioning. The argument suggests that features of classic psychoanalytic technique – the couch, meetings several times per week with both parties present, and free association – uniquely facilitate intense transferences of various sorts, and that these in turn constitute the multiple and diverse extinction trials necessary to best approximate extinction. PMID:21927610

Soft edges--organizational structure in dental education.

PubMed

Chambers, D W

1995-03-01

There is no one best organizational structure for dental schools or for their major subunits. The classical alternatives of functional and divisional organization are discussed in light of the rule that follows function, and the advantages and disadvantages of each are presented. Newer models--decentralization, matrix, and heterarchy--show how features of functional and divisional structure can be blended. Virtual organizations, systems theory, and networks are also considered as new expressions of classical structures. The principle of suboptimization (soft edges) is presented.

An efficient quantum algorithm for spectral estimation

NASA Astrophysics Data System (ADS)

Steffens, Adrian; Rebentrost, Patrick; Marvian, Iman; Eisert, Jens; Lloyd, Seth

2017-03-01

We develop an efficient quantum implementation of an important signal processing algorithm for line spectral estimation: the matrix pencil method, which determines the frequencies and damping factors of signals consisting of finite sums of exponentially damped sinusoids. Our algorithm provides a quantum speedup in a natural regime where the sampling rate is much higher than the number of sinusoid components. Along the way, we develop techniques that are expected to be useful for other quantum algorithms as well—consecutive phase estimations to efficiently make products of asymmetric low rank matrices classically accessible and an alternative method to efficiently exponentiate non-Hermitian matrices. Our algorithm features an efficient quantum-classical division of labor: the time-critical steps are implemented in quantum superposition, while an interjacent step, requiring much fewer parameters, can operate classically. We show that frequencies and damping factors can be obtained in time logarithmic in the number of sampling points, exponentially faster than known classical algorithms.

Classical Bovine Spongiform Encephalopathy by Transmission of H-Type Prion in Homologous Prion Protein Context

PubMed Central

Andréoletti, Olivier; Lacroux, Caroline; Prieto, Irene; Lorenzo, Patricia; Larska, Magdalena; Baron, Thierry; Espinosa, Juan-Carlos

2011-01-01

Bovine spongiform encephalopathy (BSE) and BSE-related disorders have been associated with a single major prion strain. Recently, 2 atypical, presumably sporadic forms of BSE have been associated with 2 distinct prion strains that are characterized mainly by distinct Western blot profiles of abnormal protease-resistant prion protein (PrPres), named high-type (BSE-H) and low-type (BSE-L), that also differed from classical BSE. We characterized 5 atypical BSE-H isolates by analyzing their molecular and neuropathologic properties during transmission in transgenic mice expressing homologous bovine prion protein. Unexpectedly, in several inoculated animals, strain features emerged that were highly similar to those of classical BSE agent. These findings demonstrate the capability of an atypical bovine prion to acquire classical BSE–like properties during propagation in a homologous bovine prion protein context and support the view that the epidemic BSE agent could have originated from such a cattle prion. PMID:21888788

Duodenal gangliocytic paraganglioma with lymph node metastasis and an 8-year follow-up: a case report.

PubMed

Barret, Maximilien; Rahmi, Gabriel; Duong van Huyen, Jean-Paul; Landi, Bruno; Cellier, Christophe; Berger, Anne

2012-01-01

Gangliocytic paraganglioma (GP) is a rare tumor, usually located in the second part of the duodenum. On pathological examination, GP is characterized by the association of the histological features of paragangliomas, ganglioneuromas, and carcinoid tumors. Classical clinical presentations are upper gastrointestinal bleeding and abdominal pain. Preoperative diagnosis is difficult because of the submucosal site of the tumor, with usually negative mucosal biopsies. Endoscopic ultrasound helps establish the diagnosis and allows lymph node staging, which will guide the choice of the treatment. If GPs usually follow a benign course, metastatic spread to regional lymph nodes treated by surgical resection alone has been reported. We report a case of GP with lymph node metastases treated by duodenopancreatectomy with long-term disease-free survival, suggesting that surgical resection is a reasonable approach for metastatic GPs.

Japanese encephalitis in a French traveler to Nepal.

PubMed

Lagarde, S; Lagier, J-C; Charrel, R; Quérat, G; Vanhomwegen, J; Desprès, P; Pelletier, J; Kaphan, E

2014-02-01

Japanese encephalitis is frequent in Asia, with a severe prognosis, but rare in travelers. Culex mosquitoes transmit Japanese encephalitis virus. Risk factors are destination, duration of stay, summer and fall seasons, outdoor activities, and type of accommodation. We report the case of a French traveler to Nepal with neutralization-based serological confirmed Japanese encephalitis. He presented classical clinical (viral syndrome before an encephalitis status with behavioral disorder, global hypotonia, mutism, movement disorders, seizure, and coma), radiological (lesions of thalami, cortico-spinal tracts, and brainstem) and biological features (lymphocytic meningitis). Nowadays, the presence of Japanese encephalitis virus in Nepal, including mountain areas, is established but Japanese encephalitis remains rare in travelers returning from this area and neurologist physicians need to become familiar with this. We recommend vaccination for travelers spending a long period of time in Nepal and having at-risk outdoor activities.

Bacterial Synthesis of Unusual Sulfonamide and Sulfone Antibiotics by Flavoenzyme-Mediated Sulfur Dioxide Capture.

PubMed

Baunach, Martin; Ding, Ling; Willing, Karsten; Hertweck, Christian

2015-11-02

Sulfa drugs, such as sulfonilamide and dapsone, are classical antibiotics that have been in clinical use worldwide. Despite the relatively simple architectures, practically no natural products are known to feature such aromatic sulfonamide or diarylsulfone substructures. We report the unexpected discovery of three fully unprecedented, sulfonyl-bridged alkaloid dimers (sulfadixiamycins A-C) from recombinant Streptomyces species harboring the entire xiamycin biosynthesis gene cluster. Sulfadixiamycins exhibit moderate antimycobacterial activities and potent antibiotic activities even against multidrug-resistant bacteria. Gene inactivation, complementation, and biotransformation experiments revealed that a flavin-dependent enzyme (XiaH) plays a key role in sulfadixiamycin biosynthesis. XiaH mediates a radical-based, three-component reaction involving two equivalents of xiamycin and sulfur dioxide, which is reminiscent of radical styrene/SO2 copolymerization. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Nucleic acid nanomaterials: Silver-wired DNA

NASA Astrophysics Data System (ADS)

Auffinger, Pascal; Ennifar, Eric

2017-10-01

DNA double helical structures are supramolecular assemblies that are typically held together by classical Watson-Crick pairing. Now, nucleotide chelation of silver ions supports an extended silver-DNA hybrid duplex featuring an uninterrupted silver array.

Molecular machines operating on the nanoscale: from classical to quantum

PubMed Central

2016-01-01

Summary The main physical features and operating principles of isothermal nanomachines in the microworld, common to both classical and quantum machines, are reviewed. Special attention is paid to the dual, constructive role of dissipation and thermal fluctuations, the fluctuation–dissipation theorem, heat losses and free energy transduction, thermodynamic efficiency, and thermodynamic efficiency at maximum power. Several basic models are considered and discussed to highlight generic physical features. This work examines some common fallacies that continue to plague the literature. In particular, the erroneous beliefs that one should minimize friction and lower the temperature for high performance of Brownian machines, and that the thermodynamic efficiency at maximum power cannot exceed one-half are discussed. The emerging topic of anomalous molecular motors operating subdiffusively but very efficiently in the viscoelastic environment of living cells is also discussed. PMID:27335728

Exact and approximate graph matching using random walks.

PubMed

Gori, Marco; Maggini, Marco; Sarti, Lorenzo

2005-07-01

In this paper, we propose a general framework for graph matching which is suitable for different problems of pattern recognition. The pattern representation we assume is at the same time highly structured, like for classic syntactic and structural approaches, and of subsymbolic nature with real-valued features, like for connectionist and statistic approaches. We show that random walk based models, inspired by Google's PageRank, give rise to a spectral theory that nicely enhances the graph topological features at node level. As a straightforward consequence, we derive a polynomial algorithm for the classic graph isomorphism problem, under the restriction of dealing with Markovian spectrally distinguishable graphs (MSD), a class of graphs that does not seem to be easily reducible to others proposed in the literature. The experimental results that we found on different test-beds of the TC-15 graph database show that the defined MSD class "almost always" covers the database, and that the proposed algorithm is significantly more efficient than top scoring VF algorithm on the same data. Most interestingly, the proposed approach is very well-suited for dealing with partial and approximate graph matching problems, derived for instance from image retrieval tasks. We consider the objects of the COIL-100 visual collection and provide a graph-based representation, whose node's labels contain appropriate visual features. We show that the adoption of classic bipartite graph matching algorithms offers a straightforward generalization of the algorithm given for graph isomorphism and, finally, we report very promising experimental results on the COIL-100 visual collection.

On Burst Detection and Prediction in Retweeting Sequence

DTIC Science & Technology

2015-05-22

We conduct a comprehensive empirical analysis of a large microblogging dataset collected from the Sina Weibo and report our observations of burst...whether and how accurate we can predict bursts using classifiers based on the extracted features. Our empirical study of the Sina Weibo data shows the...feasibility of burst prediction using appropriately extracted features and classic classifiers. 1 Introduction Microblogging, such as Twitter and Sina

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

Paavola, Janika; Hall, Michael J. W.; Paris, Matteo G. A.

The transition from quantum to classical, in the case of a quantum harmonic oscillator, is typically identified with the transition from a quantum superposition of macroscopically distinguishable states, such as the Schroedinger-cat state, into the corresponding statistical mixture. This transition is commonly characterized by the asymptotic loss of the interference term in the Wigner representation of the cat state. In this paper we show that the quantum-to-classical transition has different dynamical features depending on the measure for nonclassicality used. Measures based on an operatorial definition have well-defined physical meaning and allow a deeper understanding of the quantum-to-classical transition. Our analysismore » shows that, for most nonclassicality measures, the Schroedinger-cat state becomes classical after a finite time. Moreover, our results challenge the prevailing idea that more macroscopic states are more susceptible to decoherence in the sense that the transition from quantum to classical occurs faster. Since nonclassicality is a prerequisite for entanglement generation our results also bridge the gap between decoherence, which is lost only asymptotically, and entanglement, which may show a ''sudden death''. In fact, whereas the loss of coherences still remains asymptotic, we emphasize that the transition from quantum to classical can indeed occur at a finite time.« less

Citation classics in neuro-oncology: assessment of historical trends and scientific progress.

PubMed

Hachem, Laureen D; Mansouri, Alireza; Juraschka, Kyle; Taslimi, Shervin; Pirouzmand, Farhad; Zadeh, Gelareh

2017-09-01

Citation classics represent the highest cited works in a field and are often regarded as the most influential literature. Analyzing thematic trends in citation classics across eras enables recognition of important historical advances within a field. We present the first analysis of the citation classics in neuro-oncology. The Web of Science database was searched using terms relevant to "neuro-oncology." Articles with >400 citations were identified and the top 100 cited articles were evaluated. The top 100 neuro-oncology citation classics consisted of 43 clinical studies (17 retrospective, 10 prospective, 16 randomized trials), 43 laboratory investigations, 8 reviews/meta-analyses, and 6 guidelines/consensus statements. Articles were classified into 4 themes: 13 pertained to tumor classification, 37 to tumor pathogenesis/clinical presentation, 6 to imaging, 44 to therapy (15 chemotherapy, 10 radiotherapy, 5 surgery, 14 new agents). Gliomas were the most common tumor type examined, with 70 articles. There was a significant increase in the number of citation classics in the late 1990s, which was paralleled by an increase in studies examining tumor pathogenesis, chemotherapy, and new agents along with laboratory and randomized studies. The majority of citation classics in neuro-oncology are related to gliomas and pertain to tumor pathogenesis and treatment. The rise in citation classics in recent years investigating tumor biology, new treatment agents, and chemotherapeutics may reflect increasing scientific interest in nonsurgical treatments for CNS tumors and the need for fundamental investigations into disease processes. © The Author(s) 2017. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

Primary transmission of chronic wasting disease versus scrapie prions from small ruminants to transgenic mice expressing ovine or cervid prion protein.

PubMed

Madsen-Bouterse, Sally A; Schneider, David A; Zhuang, Dongyue; Dassanayake, Rohana P; Balachandran, Aru; Mitchell, Gordon B; O'Rourke, Katherine I

2016-09-01

Development of mice expressing either ovine (Tg338) or cervid (TgElk) prion protein (PrP) have aided in characterization of scrapie and chronic wasting disease (CWD), respectively. Experimental inoculation of sheep with CWD prions has demonstrated the potential for interspecies transmission but, infection with CWD versus classical scrapie prions may be difficult to differentiate using validated diagnostic platforms. In this study, mouse bioassay in Tg338 and TgElk was utilized to evaluate transmission of CWD versus scrapie prions from small ruminants. Mice (≥5 per homogenate) were inoculated with brain homogenates from clinically affected sheep or goats with naturally acquired classical scrapie, white-tailed deer with naturally acquired CWD (WTD-CWD) or sheep with experimentally acquired CWD derived from elk (sheep-passaged-CWD). Survival time (time to clinical disease) and attack rates (brain accumulation of protease resistant PrP, PrPres) were determined. Inoculation with classical scrapie prions resulted in clinical disease and 100 % attack rates in Tg338, but no clinical disease at endpoint (>300 days post-inoculation, p.i.) and low attack rates (6.8 %) in TgElk. Inoculation with WTD-CWD prions yielded no clinical disease or brain PrPres accumulation in Tg338 at endpoint (>500 days p.i.), but rapid onset of clinical disease (~121 days p.i.) and 100 % attack rate in TgElk. Sheep-passaged-CWD resulted in transmission to both mouse lines with 100 % attack rates at endpoint in Tg338 and an attack rate of ~73 % in TgElk with some culled due to clinical disease. These primary transmission observations demonstrate the potential of bioassay in Tg338 and TgElk to help differentiate possible infection with CWD versus classical scrapie prions in sheep and goats.

Black hole evaporation, quantum hair and supertranslations

NASA Astrophysics Data System (ADS)

Gómez, César; Zell, Sebastian

2018-04-01

In a black hole, hair and quantum information retrieval are interrelated phenomena. The existence of any new form of hair necessarily implies the existence of features in the quantum-mechanically evaporated radiation. Therefore, classical supertranslation hair can be only distinguished from global diffeomorphisms if we have access to the interior of the black hole. Indirect information on the interior can only be obtained from the features of the quantum evaporation. We demonstrate that supertranslations (T^-,T^+) \\in BMS-⊗ BMS+ can be used as bookkeepers of the probability distributions of the emitted quanta where the first element describes the classical injection of energy and the second one is associated to quantum-mechanical emission. However, the connection between T^- and T^+ is determined by the interior quantum dynamics of the black hole. We argue that restricting to the diagonal subgroup is only possible for decoupled modes, which do not bring any non-trivial information about the black hole interior and therefore do not constitute physical hair. It is shown that this is also true for gravitational systems without horizon, for which both injection and emission can be described classically. Moreover, we discuss and clarify the role of infrared physics in purification.

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.

PubMed

Shaheen, Ranad; Al Tala, Saeed; Almoisheer, Agaadir; Alkuraya, Fowzan S

2014-12-01

Primordial dwarfism (PD) is a heterogeneous clinical entity characterised by severe prenatal and postnatal growth deficiency. Despite the recent wave of disease gene discovery, the causal mutations in many PD patients remain unknown. To describe a PD family that maps to a novel locus. Clinical, imaging and laboratory phenotyping of a new family with PD followed by autozygosity mapping, linkage analysis and candidate gene sequencing. We describe a multiplex consanguineous Saudi family in which two full siblings and one half-sibling presented with classical features of Seckel syndrome in addition to optic nerve hypoplasia. We were able to map the phenotype to a single novel locus on 4q25-q28.2, in which we identified a five base-pair deletion in PLK4, which encodes a master regulator of centriole duplication. Our discovery further confirms the role of genes involved in centriole biology in the pathogenesis of PD. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Cutaneous lupus erythematosus: An update

PubMed Central

Grönhagen, Carina M; Nyberg, Filippa

2014-01-01

Lupus erythematosus (LE) is a chronic, autoimmune, multisystem disease that displays many diverse symptoms in which localized cutaneous LE (CLE) is on one end of the spectrum and severe systemic LE (SLE) on the other end. The underlying cause of LE is unknown but the etiology is thought to be multifactorial and polygenic. CLE is a disfiguring, chronic skin disease, with a significant impact on the patients’ everyday life. CLE are further divided into three main subsets: Acute CLE (ACLE), subacute CLE (SCLE) and chronic CLE (CCLE), where classic discoid LE (DLE) is the most common form. These subsets are defined by clinical symptoms, average duration of symptoms and histological and serological findings, although, the three subtypes can have overlapping clinical features. CLE patients display well-defined skin lesions, often in sun-exposed areas. The disease often has a chronic and relapsing course that can be induced or aggravated by UV light. It is important to confirm a CLE diagnosis histopathologically by a biopsy and in that there are several differential diagnoses and because CLE is a chronic disease in which regular follow-up is important and systemic treatment is sometimes indicated. PMID:24616847

Optic neuritis in pediatric population: a review in current tendencies of diagnosis and management.

PubMed

Pérez-Cambrodí, Rafael José; Gómez-Hurtado Cubillana, Aránzazu; Merino-Suárez, María L; Piñero-Llorens, David P; Laria-Ochaita, Carlos

2014-01-01

Optic neuritis is an inflammation of the optic nerve and may be related to different systemic conditions. The clinical presentation of this pathology usually includes sudden loss of visual acuity (VA) which may be unilateral or bilateral, visual field restriction, pain with eye movements, dyschromatopsia, a relative afferent pupillary defect and optic disk swelling. Optic neuritis in children has specific clinical features and a better prognosis than in adulthood. Although usually appears an underlying viral disease, the main concern for practitioners is the relationship of optic neuritis with multiple sclerosis. In addition to the classical techniques as magnetic resonance imaging (MRI), current tendencies of diagnosis for eye practitioners include new imaging devices as optical coherence tomography (OCT), useful to show a thinning of the retinal fibers layer (RFL) after the inflammatory episode. Regarding the management of these patients, short-term intravenous steroid dosages seem to be the best option to treat acute attacks characterized by a very poor bilateral VA. Copyright © 2013 Spanish General Council of Optometry. Published by Elsevier Espana. All rights reserved.

An analysis of the influence of deep neural network (DNN) topology in bottleneck feature based language recognition.

PubMed

Lozano-Diez, Alicia; Zazo, Ruben; Toledano, Doroteo T; Gonzalez-Rodriguez, Joaquin

2017-01-01

Language recognition systems based on bottleneck features have recently become the state-of-the-art in this research field, showing its success in the last Language Recognition Evaluation (LRE 2015) organized by NIST (U.S. National Institute of Standards and Technology). This type of system is based on a deep neural network (DNN) trained to discriminate between phonetic units, i.e. trained for the task of automatic speech recognition (ASR). This DNN aims to compress information in one of its layers, known as bottleneck (BN) layer, which is used to obtain a new frame representation of the audio signal. This representation has been proven to be useful for the task of language identification (LID). Thus, bottleneck features are used as input to the language recognition system, instead of a classical parameterization of the signal based on cepstral feature vectors such as MFCCs (Mel Frequency Cepstral Coefficients). Despite the success of this approach in language recognition, there is a lack of studies analyzing in a systematic way how the topology of the DNN influences the performance of bottleneck feature-based language recognition systems. In this work, we try to fill-in this gap, analyzing language recognition results with different topologies for the DNN used to extract the bottleneck features, comparing them and against a reference system based on a more classical cepstral representation of the input signal with a total variability model. This way, we obtain useful knowledge about how the DNN configuration influences bottleneck feature-based language recognition systems performance.

High diagnostic accuracy of subcutaneous Triptorelin test compared with GnRH test for diagnosing central precocious puberty in girls.

PubMed

Freire, Analía Verónica; Escobar, María Eugenia; Gryngarten, Mirta Graciela; Arcari, Andrea Josefina; Ballerini, María Gabriela; Bergadá, Ignacio; Ropelato, María Gabriela

2013-03-01

The GnRH test is the gold standard to confirm the diagnosis of central precocious puberty (CPP); however, this compound is not always readily available. Diagnostic accuracy of subcutaneous GnRH analogues tests compared to classical GnRH test has not been reported. To evaluate the diagnostic accuracy of Triptorelin test (index test) compared to the GnRH test (reference test) in girls with suspicion of CPP. A prospective, case-control, randomized clinical trial was performed. CPP or precocious thelarche (PT) was diagnosed according to maximal LH response to GnRH test and clinical characteristics during follow-up. Forty-six girls with premature breast development randomly underwent two tests: (i) intravenous GnRH 100 μg, (ii) subcutaneous Triptorelin acetate (0.1 mg/m(2), to a maximum of 0.1 mg) with blood sampling at 0, 3 and 24 h for LH, FSH and estradiol ascertainment. Gonadotrophins and estradiol responses to Triptorelin test were measured by ultrasensitive assays. Clinical features were similar between CPP (n = 33) and PT (n = 13) groups. Using receiver operating characteristic curves, maximal LH response (LH-3 h) under Triptorelin test ≥ 7 IU/l by immunofluorometric assay (IFMA) or ≥ 8 IU/l by electrochemiluminescence immunoassay (ECLIA) confirmed the diagnosis of CPP with specificity of 1.00 (95% CI: 0.75-1.00) and sensitivity 0.76 (95% CI: 0.58-0.89). Considering either LH-3 h or maximal estradiol response at 24 h (cut-off value, 295 pm), maintaining the specificity at 1.00, the test sensitivity increased to 0.94 (95% CI: 0.80-0.99) and the diagnostic efficiency to 96%. The Triptorelin test had high accuracy for the differential diagnosis of CPP vs PT in girls providing a valid alternative to the classical GnRH test. This test also allowed a comprehensive evaluation of the pituitary-ovarian axis. © 2012 Blackwell Publishing Ltd.

Combining Feature Extraction Methods to Assist the Diagnosis of Alzheimer's Disease.

PubMed

Segovia, F; Górriz, J M; Ramírez, J; Phillips, C

2016-01-01

Neuroimaging data as (18)F-FDG PET is widely used to assist the diagnosis of Alzheimer's disease (AD). Looking for regions with hypoperfusion/ hypometabolism, clinicians may predict or corroborate the diagnosis of the patients. Modern computer aided diagnosis (CAD) systems based on the statistical analysis of whole neuroimages are more accurate than classical systems based on quantifying the uptake of some predefined regions of interests (ROIs). In addition, these new systems allow determining new ROIs and take advantage of the huge amount of information comprised in neuroimaging data. A major branch of modern CAD systems for AD is based on multivariate techniques, which analyse a neuroimage as a whole, considering not only the voxel intensities but also the relations among them. In order to deal with the vast dimensionality of the data, a number of feature extraction methods have been successfully applied. In this work, we propose a CAD system based on the combination of several feature extraction techniques. First, some commonly used feature extraction methods based on the analysis of the variance (as principal component analysis), on the factorization of the data (as non-negative matrix factorization) and on classical magnitudes (as Haralick features) were simultaneously applied to the original data. These feature sets were then combined by means of two different combination approaches: i) using a single classifier and a multiple kernel learning approach and ii) using an ensemble of classifier and selecting the final decision by majority voting. The proposed approach was evaluated using a labelled neuroimaging database along with a cross validation scheme. As conclusion, the proposed CAD system performed better than approaches using only one feature extraction technique. We also provide a fair comparison (using the same database) of the selected feature extraction methods.

Qualitative and Quantitative Features of Music Reported to Support Peak Mystical Experiences during Psychedelic Therapy Sessions

PubMed Central

Barrett, Frederick S.; Robbins, Hollis; Smooke, David; Brown, Jenine L.; Griffiths, Roland R.

2017-01-01

Psilocybin is a classic (serotonergic) hallucinogen (“psychedelic” drug) that may occasion mystical experiences (characterized by a profound feeling of oneness or unity) during acute effects. Such experiences may have therapeutic value. Research and clinical applications of psychedelics usually include music listening during acute drug effects, based on the expectation that music will provide psychological support during the acute effects of psychedelic drugs, and may even facilitate the occurrence of mystical experiences. However, the features of music chosen to support the different phases of drug effects are not well-specified. As a result, there is currently neither real guidance for the selection of music nor standardization of the music used to support clinical trials with psychedelic drugs across various research groups or therapists. A description of the features of music found to be supportive of mystical experience will allow for the standardization and optimization of the delivery of psychedelic drugs in both research trials and therapeutic contexts. To this end, we conducted an anonymous survey of individuals with extensive experience administering psilocybin or psilocybin-containing mushrooms under research or therapeutic conditions, in order to identify the features of commonly used musical selections that have been found by therapists and research staff to be supportive of mystical experiences within a psilocybin session. Ten respondents yielded 24 unique recommendations of musical stimuli supportive of peak effects with psilocybin, and 24 unique recommendations of musical stimuli supportive of the period leading up to a peak experience. Qualitative analysis (expert rating of musical and music-theoretic features of the recommended stimuli) and quantitative analysis (using signal processing and music-information retrieval methods) of 22 of these stimuli yielded a description of peak period music that was characterized by regular, predictable, formulaic phrase structure and orchestration, a feeling of continuous movement and forward motion that slowly builds over time, and lower perceptual brightness when compared to pre peak music. These results provide a description of music that may be optimally supportive of peak psychedelic experiences. This description can be used to guide the selection and composition of music for future psychedelic research and therapy sessions. PMID:28790944

Qualitative and Quantitative Features of Music Reported to Support Peak Mystical Experiences during Psychedelic Therapy Sessions.

PubMed

Barrett, Frederick S; Robbins, Hollis; Smooke, David; Brown, Jenine L; Griffiths, Roland R

2017-01-01

Psilocybin is a classic (serotonergic) hallucinogen ("psychedelic" drug) that may occasion mystical experiences (characterized by a profound feeling of oneness or unity) during acute effects. Such experiences may have therapeutic value. Research and clinical applications of psychedelics usually include music listening during acute drug effects, based on the expectation that music will provide psychological support during the acute effects of psychedelic drugs, and may even facilitate the occurrence of mystical experiences. However, the features of music chosen to support the different phases of drug effects are not well-specified. As a result, there is currently neither real guidance for the selection of music nor standardization of the music used to support clinical trials with psychedelic drugs across various research groups or therapists. A description of the features of music found to be supportive of mystical experience will allow for the standardization and optimization of the delivery of psychedelic drugs in both research trials and therapeutic contexts. To this end, we conducted an anonymous survey of individuals with extensive experience administering psilocybin or psilocybin-containing mushrooms under research or therapeutic conditions, in order to identify the features of commonly used musical selections that have been found by therapists and research staff to be supportive of mystical experiences within a psilocybin session. Ten respondents yielded 24 unique recommendations of musical stimuli supportive of peak effects with psilocybin, and 24 unique recommendations of musical stimuli supportive of the period leading up to a peak experience. Qualitative analysis (expert rating of musical and music-theoretic features of the recommended stimuli) and quantitative analysis (using signal processing and music-information retrieval methods) of 22 of these stimuli yielded a description of peak period music that was characterized by regular, predictable, formulaic phrase structure and orchestration, a feeling of continuous movement and forward motion that slowly builds over time, and lower perceptual brightness when compared to pre peak music. These results provide a description of music that may be optimally supportive of peak psychedelic experiences. This description can be used to guide the selection and composition of music for future psychedelic research and therapy sessions.

Non-target adjacent stimuli classification improves performance of classical ERP-based brain computer interface

NASA Astrophysics Data System (ADS)

Ceballos, G. A.; Hernández, L. F.

2015-04-01

Objective. The classical ERP-based speller, or P300 Speller, is one of the most commonly used paradigms in the field of Brain Computer Interfaces (BCI). Several alterations to the visual stimuli presentation system have been developed to avoid unfavorable effects elicited by adjacent stimuli. However, there has been little, if any, regard to useful information contained in responses to adjacent stimuli about spatial location of target symbols. This paper aims to demonstrate that combining the classification of non-target adjacent stimuli with standard classification (target versus non-target) significantly improves classical ERP-based speller efficiency. Approach. Four SWLDA classifiers were trained and combined with the standard classifier: the lower row, upper row, right column and left column classifiers. This new feature extraction procedure and the classification method were carried out on three open databases: the UAM P300 database (Universidad Autonoma Metropolitana, Mexico), BCI competition II (dataset IIb) and BCI competition III (dataset II). Main results. The inclusion of the classification of non-target adjacent stimuli improves target classification in the classical row/column paradigm. A gain in mean single trial classification of 9.6% and an overall improvement of 25% in simulated spelling speed was achieved. Significance. We have provided further evidence that the ERPs produced by adjacent stimuli present discriminable features, which could provide additional information about the spatial location of intended symbols. This work promotes the searching of information on the peripheral stimulation responses to improve the performance of emerging visual ERP-based spellers.

The genetics of Charcot–Marie–Tooth disease: current trends and future implications for diagnosis and management

PubMed Central

Hoyle, J Chad; Isfort, Michael C; Roggenbuck, Jennifer; Arnold, W David

2015-01-01

Charcot–Marie–Tooth (CMT) disease is the most common hereditary polyneuropathy and is classically associated with an insidious onset of distal predominant motor and sensory loss, muscle wasting, and pes cavus. Other forms of hereditary neuropathy, including sensory predominant or motor predominant forms, are sometimes included in the general classification of CMT, but for the purpose of this review, we will focus primarily on the forms associated with both sensory and motor deficits. CMT has a great deal of genetic heterogeneity, leading to diagnostic considerations that are still rapidly evolving for this disorder. Clinical features, inheritance pattern, gene mutation frequencies, and electrodiagnostic features all are helpful in formulating targeted testing algorithms in practical clinical settings, but these still have shortcomings. Next-generation sequencing (NGS), combined with multigene testing panels, is increasing the sensitivity and efficiency of genetic testing and is quickly overtaking targeted testing strategies. Currently, multigene panel testing and NGS can be considered first-line in many circumstances, although obtaining initial targeted testing for the PMP22 duplication in CMT patients with demyelinating conduction velocities is still a reasonable strategy. As technology improves and cost continues to fall, targeted testing will be completely replaced by multigene NGS panels that can detect the full spectrum of CMT mutations. Nevertheless, clinical acumen is still necessary given the variants of uncertain significance encountered with NGS. Despite the current limitations, the genetic diagnosis of CMT is critical for accurate prognostication, genetic counseling, and in the future, specific targeted therapies. Although whole exome and whole genome sequencing strategies have the power to further elucidate the genetics of CMT, continued technological advances are needed. PMID:26527893

Statistical mechanics in the context of special relativity. II.

PubMed

Kaniadakis, G

2005-09-01

The special relativity laws emerge as one-parameter (light speed) generalizations of the corresponding laws of classical physics. These generalizations, imposed by the Lorentz transformations, affect both the definition of the various physical observables (e.g., momentum, energy, etc.), as well as the mathematical apparatus of the theory. Here, following the general lines of [Phys. Rev. E 66, 056125 (2002)], we show that the Lorentz transformations impose also a proper one-parameter generalization of the classical Boltzmann-Gibbs-Shannon entropy. The obtained relativistic entropy permits us to construct a coherent and self-consistent relativistic statistical theory, preserving the main features of the ordinary statistical theory, which is recovered in the classical limit. The predicted distribution function is a one-parameter continuous deformation of the classical Maxwell-Boltzmann distribution and has a simple analytic form, showing power law tails in accordance with the experimental evidence. Furthermore, this statistical mechanics can be obtained as the stationary case of a generalized kinetic theory governed by an evolution equation obeying the H theorem and reproducing the Boltzmann equation of the ordinary kinetics in the classical limit.

Evaluation of the mathematical and economic basis for conversion processes in the LEAP energy-economy model

NASA Astrophysics Data System (ADS)

Oblow, E. M.

1982-10-01

An evaluation was made of the mathematical and economic basis for conversion processes in the Long-term Energy Analysis Program (LEAP) energy economy model. Conversion processes are the main modeling subunit in LEAP used to represent energy conversion industries and are supposedly based on the classical economic theory of the firm. Questions about uniqueness and existence of LEAP solutions and their relation to classical equilibrium economic theory prompted the study. An analysis of classical theory and LEAP model equations was made to determine their exact relationship. The conclusions drawn from this analysis were that LEAP theory is not consistent with the classical theory of the firm. Specifically, the capacity factor formalism used by LEAP does not support a classical interpretation in terms of a technological production function for energy conversion processes. The economic implications of this inconsistency are suboptimal process operation and short term negative profits in years where plant operation should be terminated. A new capacity factor formalism, which retains the behavioral features of the original model, is proposed to resolve these discrepancies.

Clinicopathological Features of Intraductal Pancreatic Neuroendocrine Tumors.

PubMed

Chang, Xiao-Yan; Jia, Cong-Wei; Meng, Yun-Xiao; Chen, Jie

2016-10-10

Objective To evaluate the clinical and pathologic characteristics of intraductal pancreatic neuroendocrine tumors (PanNETs). Methods Four cases of intraductal PanNETs were studied by light microscopy and immunohistochemistry with the analysis of morphologic features and review of relevant literatures. Results Two female patients and two male patients aged 41- 58 years were enrolled in this study. The chief complaint was abdominal pain in two patients,vomiting in one patient,and jaundice in the last patient. Imaging examination showed intraductal neoplasm with diagnosis as intraductal papillary mucinous neoplasm (IPMN) in case 1; space-occupying lesions were found in the head of pancreas in the other three cases with pancreatic ductal ectasia and distal pancreatic atrophy. Grossly the masses were located in pancreatic main duct and invaded into surrounding pancreatic parachyma. Microscopically the tumors arranged with solid pattern,with some trabecular structures in the last two cases. Small duct and ductules were seen in intraductal PanNETs. The immunohistochemical expression showed that SYN and CgA were positive in neoplastic cells and negative in small duct and ductules.Conclusions Intraductal PanNETs are rare conditions. The clinical symptoms and imaging findings are similar to IPMN or pancreatic carcinoma. The tumors are located within pancreatic duct partly and can invade the pancreatic parenchyma. Microscopically the neuroendocrine tumors mix with small duct and forms ductulo-insular structure,which should be differentiated with mixed ductal endocrine carcinoma. The grade and prognosis are similar to those of classical neuroendocrine tumors.

MECHANISMS IN ENDOCRINOLOGY: Kidney involvement in patients with primary hyperparathyroidism: an update on clinical and molecular aspects.

PubMed

Verdelli, C; Corbetta, S

2017-01-01

Primary hyperparathyroidism (PHPT) is the third most common endocrine disease. Kidney is a target of both chronic elevated PTH and calcium in PHPT. The classic PHPT complications of symptomatic kidney stones and nephrocalcinosis have become rare and the PHPT current presentation is asymptomatic with uncertain and long-lasting progression. Nonetheless, the routine use of imaging and of biochemical determinations have revealed the frequent occurrence of asymptomatic kidney stones, hypercalciuria and reduced kidney function in asymptomatic PHPT patients. Though the pathogenesis is far from being elucidated, PHPT is associated with reduced renal function, in terms of estimated glomerular filtration rate, and related increased morbidity and mortality. In the last decade, the effort of the Kidney Disease: Improving Global Outcomes (KDIGO) panel of experts highlighted that even mild reduction of kidney function is associated with increased risk of cardiovascular disease. These considerations provided the basis for the Fourth Workshop recommendations of a more extensive diagnostic workout about kidney features and of wider criteria for parathyroid surgery including asymptomatic kidney disease. Moreover, kidney involvement in PHPT is likely to be affected by variants of genes coding the key molecules regulating the calcium and ions renal handling; these features might have clinical relevance and should be considered both during diagnostic workout and follow-up. Finally, the effects of parathyroid surgery and of medical treatment on kidney involvement of PHPT are reviewed. © 2017 European Society of Endocrinology.

Cushing's syndrome: update on signs, symptoms and biochemical screening.

PubMed

Nieman, Lynnette K

2015-10-01

Endogenous pathologic hypercortisolism, or Cushing's syndrome, is associated with poor quality of life, morbidity, and increased mortality. Early diagnosis may mitigate against this natural history of the disorder. The clinical presentation of Cushing's syndrome varies, in part related to the extent and duration of cortisol excess. When hypercortisolism is severe, its signs and symptoms are unmistakable. However, most of the signs and symptoms of Cushing's syndrome are common in the general population (e.g., hypertension and weight gain) and not all are present in every patient. In addition to classical features of glucocorticoid excess, such as proximal muscle weakness and wide purple striae, patients may present with the associated comorbidities that are caused by hypercortisolism. These include cardiovascular disease, thromboembolic disease, psychiatric and cognitive deficits, and infections. As a result, internists and generalists must consider Cushing's syndrome as a cause, and endocrinologists should search for and treat these comorbidities. Recommended tests to screen for Cushing's syndrome include 1  mg dexamethasone suppression, urine free cortisol, and late night salivary cortisol. These may be slightly elevated in patients with physiologic hypercortisolism, which should be excluded, along with exogenous glucocorticoid use. Each screening test has caveats and the choice of tests should be individualized based on each patient's characteristics and lifestyle. The objective of this review is to update the readership on the clinical and biochemical features of Cushing's syndrome that are useful when evaluating patients for this diagnosis. © 2015 European Society of Endocrinology.

Cushing's Syndrome: Update on signs, symptoms and biochemical screening

PubMed Central

Nieman, Lynnette K.

2015-01-01

Endogenous pathologic hypercortisolism, or Cushing’s syndrome, is associated with poor quality of life, morbidity and increased mortality. Early diagnosis may mitigate against this natural history of the disorder. The clinical presentation of Cushing’s syndrome varies, in part related to the extent and duration of cortisol excess. When hypercortisolism is severe, its signs and symptoms are unmistakable. However, most of the signs and symptoms of Cushing’s syndrome are common in the general population (e.g. hypertension and weight gain) and not all are present in every patient. In addition to classical features of glucocorticoid excess, such as proximal muscle weakness and wide purple striae, patients may present with the associated co-morbidities that are caused by hypercortisolism. These include cardiovascular disease, thromboembolic disease, psychiatric and cognitive deficits, and infections. As a result, internists and generalists must consider Cushing’s syndrome as a cause, and endocrinologists should search for and treat these co-morbidities. Recommended tests to screen for Cushing’s syndrome include 1 mg dexamethasone suppression, urine free cortisol and late night salivary cortisol. These may be slightly elevated in patients with physiologic hypercortisolism, which should be excluded, along with exogenous glucocorticoid use. Each screening test has caveats and the choice of tests should be individualized based on each patient’s characteristics and lifestyle. The objective of this review was to update the readership on the clinical and biochemical features of Cushing’s syndrome that are useful when evaluating patients for this diagnosis. PMID:26156970

"Clinical brain profiling": a neuroscientific diagnostic approach for mental disorders.

PubMed

Peled, Abraham; Geva, Amir B

2014-10-01

Clinical brain profiling is an attempt to map a descriptive nosology in psychiatry to underlying constructs in neurobiology and brain dynamics. This paper briefly reviews the motivation behind clinical brain profiling (CBP) and presents some provisional validation using clinical assessments and meta-analyses of neuroscientific publications. The paper has four sections. In the first, we review the nature and motivation for clinical brain profiling. This involves a description of the key aspects of functional anatomy that can lead to psychopathology. These features constitute the dimensions or categories for a profile of brain disorders based upon pathophysiology. The second section describes a mapping or translation matrix that maps from symptoms and signs, of a descriptive sort, to the CBP dimensions that provide a more mechanistic explanation. We will describe how this mapping engenders archetypal diagnoses, referring readers to tables and figures. The third section addresses the construct validity of clinical brain profiling by establishing correlations between profiles based on clinical ratings of symptoms and signs under classical diagnostic categories with the corresponding profiles generated automatically using archetypal diagnoses. We then provide further validation by performing a cluster analysis on the symptoms and signs and showing how they correspond to the equivalent brain profiles based upon clinical and automatic diagnosis. In the fourth section, we address the construct validity of clinical brain profiling by looking for associations between pathophysiological mechanisms (such as connectivity and plasticity) and nosological diagnoses (such as schizophrenia and depression). Based upon the mechanistic perspective offered in the first section, we test some particular hypotheses about double dissociations using a meta-analysis of PubMed searches. The final section concludes with perspectives for the future and outstanding validation issues for clinical brain profiling. Copyright © 2014 Elsevier Ltd. All rights reserved.

Reveal quantum correlation in complementary bases

PubMed Central

Wu, Shengjun; Ma, Zhihao; Chen, Zhihua; Yu, Sixia

2014-01-01

An essential feature of genuine quantum correlation is the simultaneous existence of correlation in complementary bases. We reveal this feature of quantum correlation by defining measures based on invariance under a basis change. For a bipartite quantum state, the classical correlation is the maximal correlation present in a certain optimum basis, while the quantum correlation is characterized as a series of residual correlations in the mutually unbiased bases. Compared with other approaches to quantify quantum correlation, our approach gives information-theoretical measures that directly reflect the essential feature of quantum correlation. PMID:24503595

Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.

PubMed

Shammas, Christos; Byrou, Stefania; Phelan, Marie M; Toumba, Meropi; Stylianou, Charilaos; Skordis, Nicos; Neocleous, Vassos; Phylactou, Leonidas A

2016-04-01

Congenital adrenal hyperplasia (CAH) is an endocrine autosomal recessive disorder with various symptoms of diverse severity. Mild hyperandrogenemia is the most commonclinical feature in non-classic CAH patients and 95% of the cases are identified by mutations in the CYP21A2 gene. In the present study, the second most common cause for non-classic CAH (NC-CAH), 11β-hydroxylase deficiency due to mutations in the CYP11B1 gene, is investigated. Screening of the CYP21A2 and CYP11B1 genes by direct sequencing was carried out for the detection of possible genetic defects in patients with suspected CAH. It wasobserved that CYP11B1 variants co-exist only in rare cases along with mutations in CYP21A2 in patients clinically diagnosed with CAH. A total of 23 NC-CAH female patients out of 75 were identified with only one mutation in the CYP21A2 gene. The novel CYP11B1 gene mutation, p.Val484Asp, was identified in a patient with CAH in the heterozygous state. The structural characterization of the novel p.Val484Asp was found to likely cause distortion of the surrounding beta sheet and indirect destabilization of the cavity that occurs on the opposite face of the structural elements, leading to partial impairment of the enzymatic activity. CYP21A2 gene mutations are the most frequent genetic defects in cases of NC-CAH even when these patients are in the heterozygous state. These mutations have a diverse phenotype giving rise to a variable extent of cortisol synthesis impairment; it is also clear that CYP11B1 mutants are a rare type of defects causing CAH.

Retroviruses and amyotrophic lateral sclerosis.

PubMed

Alfahad, Tariq; Nath, Avindra

2013-08-01

Amyotrophic lateral sclerosis (ALS) is a progressive, invariably fatal neurologic disorder resulting from upper and lower motor neuron degeneration, which typically develops during the sixth or seventh decade of life, and is diagnosed based on standard clinical criteria. Its underlying cause remains undetermined. The disease may occur with increased frequency within certain families, often in association with specific genomic mutations, while some sporadic cases have been linked to environmental toxins or trauma. Another possibility, first proposed in the 1970s, is that retroviruses play a role in pathogenesis. In this paper, we review the published literature for evidence that ALS is associated either with infection by an exogenous retrovirus or with the expression of human endogenous retroviral (HERV) sequences in cells of the central nervous system. A small percentage of persons infected with the human immunodeficiency virus-1 (HIV-1) or human T cell leukemia virus-1 (HTLV-1) develop ALS-like syndromes. While HTLV-1 associated ALS-like syndrome has several features that may distinguish it from classical ALS, HIV-infected patients may develop neurological manifestations that resemble classical ALS although it occurs at a younger age and they may show a dramatic improvement following the initiation of antiretroviral therapy. However, most patients with probable or definite ALS show no evidence of HIV-1 or HTLV-1 infection. In contrast, recent reports have shown a stronger association with HERV, as analysis of serum samples, and postmortem brain tissue from a number of patients with a classical ALS has revealed significantly increased expression of HERV-K, compared to controls. These findings suggest that endogenous retroviral elements are involved in the pathophysiology of ALS, but there is no evidence that they are the primary cause of the syndrome. Published by Elsevier B.V.

[Clinical forms of secondary syphilis in Cameroun].

PubMed

Koueke, P; Mvele, E D

1978-01-01

Clinical lesions of Secondary Syphilis in Negroes are similar to classical descriptions which confirm what Montel postulated (1972) according to which "Syphilis is almost the same all over"; the essential difference we discovered lies in the frequencies of clinical forms met.

[(18)F-FDG PET/CT in the evaluation of patients suspected of paraneoplastic neurological syndrome].

PubMed

García Vicente, A M; Vega Caicedo, C H; Mondéjar Solís, R; de Ayala Fernández, J Á; Garrido Robles, J A; Pena Pardo, F J; Muñoz Pasadas, M; Del Saz Saucedo, P; Jiménez Londoño, G A; León Martín, A; Soriano Castrejón, Á

2015-01-01

This study aimed to determine the diagnostic impact of (18)F-FDG PET/CT based on the clinical features of paraneoplastic neurological syndrome (PNS). Multicenter retrospective and longitudinal study of patients with suspicion of PNS. The clinical picture was classified into classic (CS) and non-classic syndrome (NCS). After the follow-up, the definitive or possible diagnosis of PNS was established. The pictures that did not match any of the previous criteria were categorized as non-classifiable. The state of the onco-neural antibodies was studied. The PET/CT was classified as positive or negative for the detection of malignancy. The relationship between PET/CT findings and the final diagnosis was determined. The differences between variables (Pearson test X(2)) and the relationship between the results of the PET/CT and the final diagnosis were analyzed. A total of 64 patients were analyzed, classifying 30% as CS and 42% as NCS. After the follow-up, 20% and 16% of subjects were diagnosed as possible and definitive PNS, respectively. Positive onco-neural antibodies were found in 13% of the patients. A definitive diagnosis of PNS was associated with a positive PET/CT (P=.08). A significant relation between antibodies expression and final diagnosis of neoplasia (P=.04) was demonstrated. The PET/CT correctly localized malignancy in 5/7 cases of invasive cancer. The PET/CT showed a higher percentage of positive results in patients with definitive diagnosis of PNS. Despite the low prevalence of malignancy in our series, the PET/CT detected malignancy in a significant proportion of patients with invasive cancer. Copyright © 2014 Elsevier España, S.L.U. and SEMNIM. All rights reserved.

Gray zone lymphoma with features intermediate between classical Hodgkin lymphoma and diffuse large B-cell lymphoma: characteristics, outcomes, and prognostication among a large multicenter cohort.

PubMed

Evens, Andrew M; Kanakry, Jennifer A; Sehn, Laurie H; Kritharis, Athena; Feldman, Tatyana; Kroll, Aimee; Gascoyne, Randy D; Abramson, Jeremy S; Petrich, Adam M; Hernandez-Ilizaliturri, Francisco J; Al-Mansour, Zeina; Adeimy, Camille; Hemminger, Jessica; Bartlett, Nancy L; Mato, Anthony; Caimi, Paolo F; Advani, Ranjana H; Klein, Andreas K; Nabhan, Chadi; Smith, Sonali M; Fabregas, Jesus C; Lossos, Izidore S; Press, Oliver W; Fenske, Timothy S; Friedberg, Jonathan W; Vose, Julie M; Blum, Kristie A

2015-09-01

Gray zone lymphoma (GZL) with features between classical Hodgkin lymphoma and diffuse large B-cell lymphoma (DLBCL) is a recently recognized entity reported to present primarily with mediastinal disease (MGZL). We examined detailed clinical features, outcomes, and prognostic factors among 112 GZL patients recently treated across 19 North American centers. Forty-three percent of patients presented with MGZL, whereas 57% had non-MGZL (NMGZL). NMGZL patients were older (50 versus 37 years, P = 0.0001); more often had bone marrow involvement (19% versus 0%, P = 0.001); >1 extranodal site (27% versus 8%, P = 0.014); and advanced stage disease (81% versus 13%, P = 0.0001); but they had less bulk (8% versus 44%, P = 0.0001), compared with MGZL patients. Common frontline treatments were cyclophosphamide-doxorubicin-vincristine-prednisone +/- rituximab (CHOP+/-R) 46%, doxorubicin-bleomycin-vinblastine-dacarbazine +/- rituximab (ABVD+/-R) 30%, and dose-adjusted etoposide-doxorubicin-cyclophosphamide-vincristine-prednisone-rituximab (DA-EPOCH-R) 10%. Overall and complete response rates for all patients were 71% and 59%, respectively; 33% had primary refractory disease. At 31-month median follow-up, 2-year progression-free survival (PFS) and overall survival rates were 40% and 88%, respectively. Interestingly, outcomes in MGZL patients seemed similar compared with that of NMGZL patients. On multivariable analyses, performance status and stage were highly prognostic for survival for all patients. Additionally, patients treated with ABVD+/-R had markedly inferior 2-year PFS (22% versus 52%, P = 0.03) compared with DLBCL-directed therapy (CHOP+/-R and DA-EPOCH-R), which persisted on Cox regression (hazard ratio, 1.88; 95% confidence interval, 1.03-3.83; P = 0.04). Furthermore, rituximab was associated with improved PFS on multivariable analyses (hazard ratio, 0.35; 95% confidence interval, 0.18-0.69; P = 0.002). Collectively, GZL is a heterogeneous and likely more common entity and often with nonmediastinal presentation, whereas outcomes seem superior when treated with a rituximab-based, DLBCL-specific regimen. © 2015 Wiley Periodicals, Inc.

Parinaud syndrome: a 25-year (1991-2016) review of 40 consecutive adult cases.

PubMed

Shields, Melissa; Sinkar, Swati; Chan, WengOnn; Crompton, John

2017-12-01

To characterize the clinical features, aetiology and management of ophthalmic symptoms in adult patients with Parinaud syndrome. This is a retrospective, non-comparative observational case series. We reviewed 40 consecutive charts of adult patients with the clinical diagnosis of Parinaud syndrome at the Royal Adelaide Hospital Department of Ophthalmology in Adelaide, South Australia, between 1991 and 2016. Charts were reviewed for the following: (1) demographic information, (2) clinical presentation, (3) neuro-ophthalmology signs, (4) aetiology of Parinaud syndrome, and (5) management. Examination findings were collected at initial evaluation, throughout the course of follow-up, and at last follow-up. All the cases were assessed by one of the authors (JLC). The commonest presenting symptoms were diplopia (67.5%) and blurred vision (25%) followed by visual field defect (12.5%), ataxia (7.5%) and manifest squint (7.5%). The commonest presenting signs were vertical gaze palsy (100%), convergence-retraction nystagmus (87.5%) and light-near dissociation (65.0%). Only 65.0% patients had the classical triad of vertical gaze palsy, convergence-retraction nystagmus and light-near dissociation. Midbrain pathologies including haemorrhage (30.0%), infarction (20.0%) and tumour (15.0%) were the commonest aetiology. Pineal region tumours accounted for 30.0% of presentations. Symptoms were managed conservatively in 45% of cases with temporary occlusion, prisms or refractive correction, and observation in 42.5% of cases. Surgical intervention for refractory diplopia was required in 12.5% of cases, of which 80% reported symptom resolution following surgery. Our series highlights the variable clinical presentation of Parinaud syndrome. The classic triad of conjugate upgaze paralysis, convergence-retraction nystagmus and light-near dissociation was only present in 65% of cases. Pineal neoplasms remain an important aetiological consideration; however, primary midbrain pathology including infarction and haemorrhage constituted the majority of our cases and should be considered in all patients. Conservative management approaches for ocular symptoms are sufficient in most cases although surgical treatment of upgaze palsy can be a useful option in refractory cases. © 2016 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

Bone disease in primary hyperparathyroidism

PubMed Central

Bandeira, Francisco; Cusano, Natalie E.; Silva, Barbara C.; Cassibba, Sara; Almeida, Clarissa Beatriz; Machado, Vanessa Caroline Costa; Bilezikian, John P.

2015-01-01

Bone disease in severe primary hyperparathyroidism (PHPT) is described classically as osteitis fibrosa cystica (OFC). Bone pain, skeletal deformities and pathological fractures are features of OFC. Bone mineral density is usually extremely low in OFC, but it is reversible after surgical cure. The signs and symptoms of severe bone disease include bone pain, pathologic fractures, proximal muscle weakness with hyperreflexia. Bone involvement is typically characterized as salt-and-pepper appearance in the skull, bone erosions and bone resorption of the phalanges, brown tumors and cysts. In the radiography, diffuse demineralization is observed, along with pathological fractures, particularly in the long bones of the extremities. In severe, symptomatic PHPT, marked elevation of the serum calcium and PTH concentrations are seen and renal involvement is manifested by nephrolithiasis and nephrocalcinosis. A new technology, recently approved for clinical use in the United States and Europe, is likely to become more widely available because it is an adaptation of the lumbar spine DXA image. Trabecular bone score (TBS) is a gray-level textural analysis that provides an indirect index of trabecular microarchitecture. Newer technologies, such as high-resolution peripheral quantitative computed tomography (HR-pQCT), have provided further understanding of the microstructural skeletal features in PHPT. PMID:25166047

Osteomalacia associated with cutaneous psoriasis as the presenting feature of coeliac disease: a case report

PubMed Central

Frikha, Faten; Snoussi, Mouna; Bahloul, Zouhir

2012-01-01

Celiac disease (CD) is a chronic digestive disease that results in hypersensitivity to the gliadin fraction of Gluten. Malabsorption syndrome may be responsible for weight loss, diarrhea, osteomalacia, and vitamins deficiency. Herein we report a patient with coeliac disease (CD) who presented with osteomalacia and psoriasis without classical symptoms of CD. A 25-year-old North African Tunisian white woman was admitted to the hospital because of a 1-year history of bone pain, weight loss and weakness. She had cutaneous psoriasis on dermatologic examination. She had also anemia, hypocalcemia and pathological fracture. She was diagnosed to have osteomalacia on the basis of clinical, biological and radiological findings. Further investigations revealed the presence of antiglutaminase antibodies, and histopathologic findings of the duodenal biopsy were consistent with celiac disease. The patient showed a fast response to gluten-free diet, and full recovery with calcium and vitamin D replacement. Coeliac disease is frequently misdiagnosed leading to major complications such as osteolamacia. In the other hand, osteomalacia can still be the presenting feature of undiagnosed celiac disease. Association between osteomalacia and cutaneous psoriasis is rarely reported. PMID:22593794

Stacking denoising auto-encoders in a deep network to segment the brainstem on MRI in brain cancer patients: A clinical study.

PubMed

Dolz, Jose; Betrouni, Nacim; Quidet, Mathilde; Kharroubi, Dris; Leroy, Henri A; Reyns, Nicolas; Massoptier, Laurent; Vermandel, Maximilien

2016-09-01

Delineation of organs at risk (OARs) is a crucial step in surgical and treatment planning in brain cancer, where precise OARs volume delineation is required. However, this task is still often manually performed, which is time-consuming and prone to observer variability. To tackle these issues a deep learning approach based on stacking denoising auto-encoders has been proposed to segment the brainstem on magnetic resonance images in brain cancer context. Additionally to classical features used in machine learning to segment brain structures, two new features are suggested. Four experts participated in this study by segmenting the brainstem on 9 patients who underwent radiosurgery. Analysis of variance on shape and volume similarity metrics indicated that there were significant differences (p<0.05) between the groups of manual annotations and automatic segmentations. Experimental evaluation also showed an overlapping higher than 90% with respect to the ground truth. These results are comparable, and often higher, to those of the state of the art segmentation methods but with a considerably reduction of the segmentation time. Copyright © 2016 Elsevier Ltd. All rights reserved.

Black hair follicular dysplasia in Large Münsterländer dogs: clinical, histological and ultrastructural features

PubMed Central

von Bomhard, Wolf; Mauldin, Elizabeth A.; Schmutz, Sheila M.; Leeb, Tosso; Casal, Margret L.

2012-01-01

Four Large Münsterländer cross-bred dogs affected with black hair follicular dysplasia (BHFD) and one unaffected control littermate were observed, and skin was sampled weekly over the first 19 weeks of life. Affected dogs were born with silvery grey hair, a consequence of melanin clumping in the hair shafts. Hair bulb melanocytes were densely pigmented, and contained abundant stage IV melanosomes but adjacent matrix keratinocytes lacked melanosomes. Melanin clumping was not prominent in epidermal melanocytes in the haired skin but occurred in the foot pads. Follicular changes progressed from bulbar clumping, clumping in the isthmus/ infundibulum and finally to dysplastic hair shafts. Alopecia developed progressively in pigmented areas. Silver-grey hair, melanin clumping, accumulation of stage IV melanosomes within melanocytes and insufficient melanin transfer to adjacent keratinocytes are also classic features of human Griscelli syndrome. The underlying cause in Griscelli syndrome is a defect of melanocytic intracellular transport proteins leading to inadequate and disorganized melanosome transfer to keratinocytes with resultant melanin clumping. In view of the correlation in the phenotype, histology and ultrastructure between both disorders, a defect in intracellular melanosome transport is postulated as the pathogenic mechanism in BHFD. PMID:16674733

The ultrastructural features of the premalignant oral lesions.

PubMed

Olinici, Doiniţa; Cotrutz, Carmen Elena; Mihali, Ciprian Valentin; Grecu, Vasile Bogdan; Botez, Emanuela Ana; Stoica, Laura; Onofrei, Pavel; Condurache, Oana; Dimitriu, Daniela Cristina

2018-01-01

Premalignant oral lesions are among the most important risk factors for the development of oral squamocellular carcinoma. Recent population studies indicate a significant rise in the prevalence of leukoplakia, erythroplakia/erythroleukoplakia, actinic cheilitis, submucous fibrosis and erosive lichen planus. Since standard histopathological examination has numerous limitations regarding the accurate appreciation of potential malignant transformation, the present study aims to aid these evaluations using the transmission electron microscopy (TEM) technique, which emphasizes ultrastructural changes pertaining to this pathology. Oral mucosa fragments collected from 43 patients that were clinically and histopathologically diagnosed with leukoplakia, erosive actinic cheilitis and erosive lichen planus have been processed through the classic technique for the examination using TEM and were examined using a Philips CM100 transmission electron microscope. The electron microscopy study has confirmed the histopathological diagnosis of the tissue samples examined using photonic microscopy and has furthermore revealed a series of ultrastructural details that on the one hand indicate the tendency for malignant transformation, and on the other reveal characteristic features of tumor development. All the details furnished by TEM complete the overall picture of morphological changes, specific to these lesions, indicating the importance of using these techniques in establishing both a correct diagnosis and prognosis.

Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine.

PubMed

Oberklaid, F; Danks, D M; Jensen, F; Stace, L; Rosshandler, S

1979-04-01

An attempt was made to ascertain all the dwarfs in the State of Victoria. The incidence of achondroplasia proved to be approximately 1 in 26,000 live births in the period 1969 to 1975 when ascertainment was nearly complete. This indicates a mutation rate of 1.93 X 10(-5) per generation in this locus. Paternal age was shown to influence mutation. Ascertainment in earlier years of the study was low despite the very great effort made to find all cases. Patients with hypochondroplasia were particularly difficult to find. However, 25 cases were found for study. Overlap between hypochondroplasia and achondroplasia was found in all features except the facial appearance (which was the basis of definition). Achondroplasia was more severe in all regards, but some individuals with hypochondroplasia were very short and some had extreme degrees of spinal canal stenosis. The classical measurements used to describe the skull changes in acondroplasia failed to distinguish this condition from hypochondroplasia. More efficient indices were devised, but visual assessment of the size of the facial region compared to that of the cranial valult proved more reliable than any index. The clinical distinction based upon facial appearance remains the arbitrary basis of definition.

Association Between Early-Onset Parkinson Disease and 22q11.2 Deletion Syndrome

PubMed Central

Butcher, Nancy J.; Kiehl, Tim-Rasmus; Hazrati, Lili-Naz; Chow, Eva W. C.; Rogaeva, Ekaterina; Lang, Anthony E.; Bassett, Anne S.

2015-01-01

IMPORTANCE Clinical case reports of parkinsonism co-occurring with hemizygous 22q11.2 deletions and the associated multisystem syndrome, 22q11.2 deletion syndrome (22q11.2DS), suggest that 22q11.2 deletions may lead to increased risk of early-onset Parkinson disease (PD). The frequency of PD and its neuropathological presentation remain unknown in this common genetic condition. OBJECTIVE To evaluate a possible association between 22q11.2 deletions and PD. DESIGN, SETTING, AND PARTICIPANTS An observational study of the occurrence of PD in the world’s largest cohort of well-characterized adults with a molecularly confirmed diagnosis of 22q11.2DS (n = 159 [6 with postmortem tissue]; age range, 18.1–68.6 years) was conducted in Toronto, Ontario, Canada. Rare postmortem brain tissue from individuals with 22q11.2DS and a clinical history of PD was investigated for neurodegenerative changes and compared with that from individuals with no history of a movement disorder. MAIN OUTCOMES AND MEASURES A clinical diagnosis of PD made by a neurologist and neuropathological features of PD. RESULTS Adults with 22q11.2DS had a significantly elevated occurrence of PD compared with standard population estimates (standardized morbidity ratio = 69.7; 95% CI, 19.0–178.5). All cases showed early onset and typical PD symptom pattern, treatment response, and course. All were negative for family history of PD and known pathogenic PD-related mutations. The common use of antipsychotics in patients with 22q11.2DS to manage associated psychiatric symptoms delayed diagnosis of PD by up to 10 years. Postmortem brain tissue revealed classic loss of midbrain dopaminergic neurons in all 3 postmortem 22q11.2DS-PD cases. Typical α-synuclein–positive Lewy bodies were present in the expected distribution in 2 cases but absent in another. CONCLUSIONS AND RELEVANCE These findings suggest that 22q11.2 deletions represent a novel genetic risk factor for early-onset PD with variable neuropathological presentation reminiscent of LRRK2-associated PD neuropathology. Individuals with early-onset PD and classic features of 22q11.2DS should be considered for genetic testing, and those with a known 22q11.2 deletion should be monitored for the development of parkinsonian symptoms. Molecular studies of the implicated genes, including DGCR8, may help shed light on the underlying pathophysiology of PD in 22q11.2DS and idiopathic PD. PMID:24018986

Effect of lullaby and classical music on physiologic stability of hospitalized preterm infants: a randomized trial.

PubMed

Amini, E; Rafiei, P; Zarei, K; Gohari, M; Hamidi, M

2013-01-01

Music is considered a subset of developmental supportive care. It may act as a suitable auditory stimulant in preterm infants. Also, it may reduce stress responses in autonomic, motor and state systems. To assess and compare the influence of lullaby and classical music on physiologic parameters. This is a randomized clinical trial with cross-over design. A total of 25 stable preterm infants with birth weight of 1000-2500 grams were studied for six consecutive days. Each infant was exposed to three phases: lullaby music, classical music, and no music (control) for two days each. The sequence of these phases was assigned randomly to each subject. Babies were continuously monitored for heart rate, respiratory rate, and oxygen saturation and changes between phases were analyzed. Lullaby reduced heart rate (p < 0.001) and respiratory rate (p = 0.004). These effects extended in the period after the exposure (p < .001 and p = 0.001, respectively). Classical music reduced heart rate (p = 0.018). The effects of classical music disappeared once the music stopped. Oxygen saturation did not change during intervention. Music can affect vital signs of preterm infants; this effect can possibly be related to the reduction of stress during hospitalization. The implications of these findings on clinical and developmental outcomes need further study.

Enstrophy Cascade in Decaying Two-Dimensional Quantum Turbulence

NASA Astrophysics Data System (ADS)

Reeves, Matthew T.; Billam, Thomas P.; Yu, Xiaoquan; Bradley, Ashton S.

2017-11-01

We report evidence for an enstrophy cascade in large-scale point-vortex simulations of decaying two-dimensional quantum turbulence. Devising a method to generate quantum vortex configurations with kinetic energy narrowly localized near a single length scale, the dynamics are found to be well characterized by a superfluid Reynolds number Res that depends only on the number of vortices and the initial kinetic energy scale. Under free evolution the vortices exhibit features of a classical enstrophy cascade, including a k-3 power-law kinetic energy spectrum, and constant enstrophy flux associated with inertial transport to small scales. Clear signatures of the cascade emerge for N ≳500 vortices. Simulating up to very large Reynolds numbers (N =32 768 vortices), additional features of the classical theory are observed: the Kraichnan-Batchelor constant is found to converge to C'≈1.6 , and the width of the k-3 range scales as Res1 /2 .

Quasiclassical analysis of Bloch oscillations in non-Hermitian tight-binding lattices

NASA Astrophysics Data System (ADS)

Graefe, E. M.; Korsch, H. J.; Rush, A.

2016-07-01

Many features of Bloch oscillations in one-dimensional quantum lattices with a static force can be described by quasiclassical considerations for example by means of the acceleration theorem, at least for Hermitian systems. Here the quasiclassical approach is extended to non-Hermitian lattices, which are of increasing interest. The analysis is based on a generalised non-Hermitian phase space dynamics developed recently. Applications to a single-band tight-binding system demonstrate that many features of the quantum dynamics can be understood from this classical description qualitatively and even quantitatively. Two non-Hermitian and PT-symmetric examples are studied, a Hatano-Nelson lattice with real coupling constants and a system with purely imaginary couplings, both for initially localised states in space or in momentum. It is shown that the time-evolution of the norm of the wave packet and the expectation values of position and momentum can be described in a classical picture.

Comprehensive analysis of MHC class II genes in teleost fish genomes reveals dispensability of the peptide-loading DM system in a large part of vertebrates

PubMed Central

2013-01-01

Background Classical major histocompatibility complex (MHC) class II molecules play an essential role in presenting peptide antigens to CD4+ T lymphocytes in the acquired immune system. The non-classical class II DM molecule, HLA-DM in the case of humans, possesses critical function in assisting the classical MHC class II molecules for proper peptide loading and is highly conserved in tetrapod species. Although the absence of DM-like genes in teleost fish has been speculated based on the results of homology searches, it has not been definitively clear whether the DM system is truly specific for tetrapods or not. To obtain a clear answer, we comprehensively searched class II genes in representative teleost fish genomes and analyzed those genes regarding the critical functional features required for the DM system. Results We discovered a novel ancient class II group (DE) in teleost fish and classified teleost fish class II genes into three major groups (DA, DB and DE). Based on several criteria, we investigated the classical/non-classical nature of various class II genes and showed that only one of three groups (DA) exhibits classical-type characteristics. Analyses of predicted class II molecules revealed that the critical tryptophan residue required for a classical class II molecule in the DM system could be found only in some non-classical but not in classical-type class II molecules of teleost fish. Conclusions Teleost fish, a major group of vertebrates, do not possess the DM system for the classical class II peptide-loading and this sophisticated system has specially evolved in the tetrapod lineage. PMID:24279922

Towards a New Functional Anatomy of Language

ERIC Educational Resources Information Center

Poeppel, David; Hickok, Gregory

2004-01-01

The classical brain-language model derived from the work of Broca, Wernicke, Lichtheim, Geschwind, and others has been useful as a heuristic model that stimulates research and as a clinical model that guides diagnosis. However, it is now uncontroversial that the classical model is (i) empirically wrong in that it cannot account for the range of…

[Scabies: epidemiological, clinical and therapeutic features in Bangui].

PubMed

Kobangué, L; Guéréndo, P; Abéyé, J; Namdito, P; Mballa, M D; Gresenguet, G

2014-02-01

The scabies infects about 300 million people worldwide. Its spread is linked to living conditions especially in economically poor countries. In Central African Republic (CAR) we do not have data on this disease often causes morbidity and expenses, and the disease is often confused and poorly treated. The authors' goal was to describe the epidemiological, clinical and therapeutic characteristics of scabies in Bangui. This was a cross-sectional study by counting records of cases of scabies observed in the dermatology and venereology department of Bangui from 1 January 2006 to 31 December 2010. The diagnosis was based mainly on the combination of a concept of pruritus predominantly night with the notion of contagion and preferential localization of lesions. Three hundred and seventy six cases of scabies were identified from a total of 6391 patients (a hospital prevalence of 5.88%) with high frequency among the population aged 0 to 9 years (33%), an important achievement of the disadvantaged classes (preschool age and pupils / students respectively 25.5% and 26.3%), a prevalence of scabies nodules as type of clinical lesion, localization predominantly on buttocks and the most common complication of eczema-type (19.9 %). Benzyl benzoate solution at 25% applied for 2 consecutive days yielded very satisfactory results (96.7% on day 28) in all forms. The scabies is present in CAR with classical clinical and epidemiological aspects. We recommend first-line benzyl benzoate in two days of application.

Primary lacrimal canaliculitis - A clinical entity often misdiagnosed.

PubMed

Singh, Manpreet; Gautam, Natasha; Agarwal, Aniruddha; Kaur, Manpreet

2018-03-01

Primary lacrimal canaliculitis (PLC) is a unique disorder which often gets misdiagnosed by the general as well as speciality-trained ophthalmologists. Elderly patients with history of chronic or recurrent epiphora with discharge, often get mislead towards chronic dacryocystitis. The aim of our report is to discuss the misleading diseases in our PLC patients and to revisit this hidden disease. The patients of PLC who were previously misdiagnosed were studied. The clinical history, presenting clinical features, misdiagnosis, and final management of the patients is described. There were 5 misdiagnosed female patients. A history of chronic redness, watering, discharge, and medial canthal region edema lead to the misdiagnosis of chronic dacryocystitis in 3 (60%) and medial marginal chalazion in 2 (40%) cases. Slit-lamp examination revealed localized hyperemia (n = 5), classical pouting of lacrimal punctum (n = 3), and expressible purulent discharge (n = 3). Two patients without punctum pouting had an explicit yellowish hue/discoloration of the canalicular region. Our patients had a mean 4 visits before an accurate diagnosis. Three-snip punctoplasty with canalicular curettage was performed in three while two were managed conservatively. At last follow-up, all patients were symptom-free with punctum and canalicular scarring in three, who underwent surgery. PLC is a frequently misdiagnosed clinical entity which delays the initiation of appropriate treatment. A succinct magnified examination of punctum and canalicular region can provide sufficient clues pivotal for accurate diagnosis.

Edge directed image interpolation with Bamberger pyramids

NASA Astrophysics Data System (ADS)

Rosiles, Jose Gerardo

2005-08-01

Image interpolation is a standard feature in digital image editing software, digital camera systems and printers. Classical methods for resizing produce blurred images with unacceptable quality. Bamberger Pyramids and filter banks have been successfully used for texture and image analysis. They provide excellent multiresolution and directional selectivity. In this paper we present an edge-directed image interpolation algorithm which takes advantage of the simultaneous spatial-directional edge localization at the subband level. The proposed algorithm outperform classical schemes like bilinear and bicubic schemes from the visual and numerical point of views.

Comparison of Balance Performance Between Thai Classical Dancers and Non-Dancers.

PubMed

Krityakiarana, Warin; Jongkamonwiwat, Nopporn

2016-01-01

Thai classical dance is a traditional dramatic art, the technique of which has many features in common with South East Asian performing art. The choreographic patterns consist of various forms of balance control together with limb movements in slow rhythm. The grace and beauty of the dancer are dependent on how well the limb movements curve and angle. The relationship of whole body proportion and balance control in various patterns of support base is also important. The purpose of this study was to compare balance abilities between Thai classical dancers and non-dancers in different balance conditions. Twenty-five Thai classical dancers and 25 non-dancers performed the modified Sensory Organization Test (mSOT) and were further challenged by adding dynamic head tilts (DHTs) in four different directions during mSOT. Mixed model ANOVA was applied to determine the equilibrium score in each balance condition and also the interaction between dancer and non-dancer groups. It was found that Thai classical dancers achieved better equilibrium scores in all mSOT conditions except the least challenging one. Moreover, additional multitask conditions (mSOT+DHT) were revealed to profoundly affect differences between dancers and controls. In conclusion, Thai classical dancers demonstrated a better ability to maintain postural stability during different challenging postural tests. This information suggests various ways of putting the practice of Thai classical dance to use in the future.

Quantum formalism for classical statistics

NASA Astrophysics Data System (ADS)

Wetterich, C.

2018-06-01

In static classical statistical systems the problem of information transport from a boundary to the bulk finds a simple description in terms of wave functions or density matrices. While the transfer matrix formalism is a type of Heisenberg picture for this problem, we develop here the associated Schrödinger picture that keeps track of the local probabilistic information. The transport of the probabilistic information between neighboring hypersurfaces obeys a linear evolution equation, and therefore the superposition principle for the possible solutions. Operators are associated to local observables, with rules for the computation of expectation values similar to quantum mechanics. We discuss how non-commutativity naturally arises in this setting. Also other features characteristic of quantum mechanics, such as complex structure, change of basis or symmetry transformations, can be found in classical statistics once formulated in terms of wave functions or density matrices. We construct for every quantum system an equivalent classical statistical system, such that time in quantum mechanics corresponds to the location of hypersurfaces in the classical probabilistic ensemble. For suitable choices of local observables in the classical statistical system one can, in principle, compute all expectation values and correlations of observables in the quantum system from the local probabilistic information of the associated classical statistical system. Realizing a static memory material as a quantum simulator for a given quantum system is not a matter of principle, but rather of practical simplicity.

A novel HRM assay for differentiating classical strains and highly pathogenic strains of type 2 porcine reproductive and respiratory syndrome virus.

PubMed

Sun, Junying; Bingga, Gali; Liu, Zhicheng; Zhang, Chunhong; Shen, Haiyan; Guo, Pengju; Zhang, Jianfeng

2018-06-01

Differentiation of classical strains and highly pathogenic strains of porcine reproductive and respiratory syndrome virus is crucial for effective vaccination programs and epidemiological studies. We used nested PCR and high resolution melting curve analysis with unlabeled probe to distinguish between the classical and the highly pathogenic strains of this virus. Two sets of primers and a 20 bp unlabeled probe were designed from the NSP3 gene. The unlabeled probe included two mutations specific for the classical and highly pathogenic strains of the virus. An additional primer set from the NSP2 gene of the highly pathogenic vaccine strain JXA1-R was used to detect its exclusive single nucleotide polymorphism. We tested 107 clinical samples, 21 clinical samples were positive for PRRSV (consistent with conventional PCR assay), among them four were positive for the classical strain with the remainder 17 for the highly pathogenic strain. Around 10 °C difference between probe melting temperatures showed the high discriminatory power of this method. Among highly pathogenic positive samples, three samples were determined as positive for JXA1-R vaccine-related strain with a 95% genotype confidence percentage. All these genotyping results using the high resolution melting curve assay were confirmed with DNA sequencing. This unlabeled probe method provides an alternative means to differentiate the classical strains from the highly pathogenic porcine reproductive and respiratory syndrome virus strains rapidly and accurately. Copyright © 2018. Published by Elsevier Ltd.

SU-D-BRB-05: Quantum Learning for Knowledge-Based Response-Adaptive Radiotherapy

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

El Naqa, I; Ten, R

Purpose: There is tremendous excitement in radiotherapy about applying data-driven methods to develop personalized clinical decisions for real-time response-based adaptation. However, classical statistical learning methods lack in terms of efficiency and ability to predict outcomes under conditions of uncertainty and incomplete information. Therefore, we are investigating physics-inspired machine learning approaches by utilizing quantum principles for developing a robust framework to dynamically adapt treatments to individual patient’s characteristics and optimize outcomes. Methods: We studied 88 liver SBRT patients with 35 on non-adaptive and 53 on adaptive protocols. Adaptation was based on liver function using a split-course of 3+2 fractions with amore » month break. The radiotherapy environment was modeled as a Markov decision process (MDP) of baseline and one month into treatment states. The patient environment was modeled by a 5-variable state represented by patient’s clinical and dosimetric covariates. For comparison of classical and quantum learning methods, decision-making to adapt at one month was considered. The MDP objective was defined by the complication-free tumor control (P{sup +}=TCPx(1-NTCP)). A simple regression model represented state-action mapping. Single bit in classical MDP and a qubit of 2-superimposed states in quantum MDP represented the decision actions. Classical decision selection was done using reinforcement Q-learning and quantum searching was performed using Grover’s algorithm, which applies uniform superposition over possible states and yields quadratic speed-up. Results: Classical/quantum MDPs suggested adaptation (probability amplitude ≥0.5) 79% of the time for splitcourses and 100% for continuous-courses. However, the classical MDP had an average adaptation probability of 0.5±0.22 while the quantum algorithm reached 0.76±0.28. In cases where adaptation failed, classical MDP yielded 0.31±0.26 average amplitude while the quantum approach averaged a more optimistic 0.57±0.4, but with high phase fluctuations. Conclusion: Our results demonstrate that quantum machine learning approaches provide a feasible and promising framework for real-time and sequential clinical decision-making in adaptive radiotherapy.« less

Evaluation of anterior knee pain in a PS total knee arthroplasty: the role of patella-friendly femoral component and patellar size.

PubMed

Atzori, F; Sabatini, L; Deledda, D; Schirò, M; Lo Baido, R; Baido, R L; Massè, A

2015-04-01

Total knee arthroplasty gives excellent objective results. Nevertheless, the subjective findings do not match the normal knee perception: Often, it depends on patellar pain onset. In this study, we analyzed clinical and radiological items that can affect resurfaced patellar tracking, and role of a patella-friendly femoral component and patellar size on patellar pain onset. Thirty consecutive patients were implanted using the same-cemented posterior-stabilized TKA associated with patella resurfacing. Fifteen patients were implanted using a classical femoral component, while another 15 patients were implanted using a patella-friendly femoral component. The statistical analysis was set to detect a significant difference (p < 0.05) in clinical and radiological outcomes related to several surgical parameters. Clinical and functional outcomes were recorded using the Knee Society Scoring System (KSS) and patellar pain with the Burnett questionnaire. Mean follow-up was 25 months. KSS results were excellent in both groups. Group 2 (patella-friendly femoral model) reached a higher percentage of 100 points in the clinical and functional KSS, but there was no statistical difference. Also, no statistical differences for Burnett Questionnaire results were recorded. We had one case of patellar clunk syndrome in the standard femoral component group and one poor result in the second group. Postoperative radiographic measurements evidenced no statistical differences in both groups. In group 1 (classical femoral component), better significant result (p < 0.05) war recorded at clinical evaluation according to the Knee Society Scoring System (KSS) in case of wider patellar component resurfaced. The present study reveals no statistically significant difference in the incidence of anterior knee pain between classical and "patella-friendly" femoral components. With the particular type of implant design utilized in this study, when the classical femoral component is used, bigger patellar implant sizes (38 and 41 mm) showed superior clinical outcome.

Objective Dysphonia Quantification in Vocal Fold Paralysis: Comparing Nonlinear with Classical Measures

PubMed Central

Little, Max A.; Costello, Declan A. E.; Harries, Meredydd L.

2010-01-01

Summary Clinical acoustic voice-recording analysis is usually performed using classical perturbation measures, including jitter, shimmer, and noise-to-harmonic ratios (NHRs). However, restrictive mathematical limitations of these measures prevent analysis for severely dysphonic voices. Previous studies of alternative nonlinear random measures addressed wide varieties of vocal pathologies. Here, we analyze a single vocal pathology cohort, testing the performance of these alternative measures alongside classical measures. We present voice analysis pre- and postoperatively in 17 patients with unilateral vocal fold paralysis (UVFP). The patients underwent standard medialization thyroplasty surgery, and the voices were analyzed using jitter, shimmer, NHR, nonlinear recurrence period density entropy (RPDE), detrended fluctuation analysis (DFA), and correlation dimension. In addition, we similarly analyzed 11 healthy controls. Systematizing the preanalysis editing of the recordings, we found that the novel measures were more stable and, hence, reliable than the classical measures on healthy controls. RPDE and jitter are sensitive to improvements pre- to postoperation. Shimmer, NHR, and DFA showed no significant change (P > 0.05). All measures detect statistically significant and clinically important differences between controls and patients, both treated and untreated (P < 0.001, area under curve [AUC] > 0.7). Pre- to postoperation grade, roughness, breathiness, asthenia, and strain (GRBAS) ratings show statistically significant and clinically important improvement in overall dysphonia grade (G) (AUC = 0.946, P < 0.001). Recalculating AUCs from other study data, we compare these results in terms of clinical importance. We conclude that, when preanalysis editing is systematized, nonlinear random measures may be useful for monitoring UVFP-treatment effectiveness, and there may be applications to other forms of dysphonia. PMID:19900790

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.

PubMed

Pangrazio, Alessandra; Puddu, Alessandro; Oppo, Manuela; Valentini, Maria; Zammataro, Luca; Vellodi, Ashok; Gener, Blanca; Llano-Rivas, Isabel; Raza, Jamal; Atta, Irum; Vezzoni, Paolo; Superti-Furga, Andrea; Villa, Anna; Sobacchi, Cristina

2014-02-01

Autosomal Recessive Osteopetrosis is a genetic disorder characterized by increased bone density due to lack of resorption by the osteoclasts. Genetic studies have widely unraveled the molecular basis of the most severe forms, while cases of intermediate severity are more difficult to characterize, probably because of a large heterogeneity. Here, we describe the use of exome sequencing in the molecular diagnosis of 2 siblings initially thought to be affected by "intermediate osteopetrosis", which identified a homozygous mutation in the CTSK gene. Prompted by this finding, we tested by Sanger sequencing 25 additional patients addressed to us for recessive osteopetrosis and found CTSK mutations in 4 of them. In retrospect, their clinical and radiographic features were found to be compatible with, but not typical for, Pycnodysostosis. We sought to identify modifier genes that might have played a role in the clinical manifestation of the disease in these patients, but our results were not informative. In conclusion, we underline the difficulties of differential diagnosis in some patients whose clinical appearance does not fit the classical malignant or benign picture and recommend that CTSK gene be included in the molecular diagnosis of high bone density conditions. Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.

Mixed states in bipolar disorder - changes in DSM-5 and current treatment recommendations.

PubMed

Betzler, Felix; Stöver, Laura Apollonia; Sterzer, Philipp; Köhler, Stephan

2017-11-01

Mixed states in affective disorders represent a particular challenge in clinical routine, characterized by a complicated course of treatment and a worse treatment response. Clinical features of mixed states and the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria are presented and critical discussed. We then performed a systematic review using the terms 'bipolar', 'mixed' and 'randomized' to evaluate current treatment options. For pharmacological treatment of mixed states in total, there is still insufficient data from RCTs. However, there is some evidence for efficacy in mixed states from RCTs for atypical antipsychotics, especially olanzapine, aripiprazole and asenapine as well as mood stabilizers as valproate and carbamazepine. Mixed states are of a high clinical relevance and the DSM-5 criteria substantially reduced the diagnostic threshold. Besides advantages of a better characterization of patients with former DSM-IV-defined mixed episodes, disadvantages arise for example differential diagnoses with a substantial overlap in symptoms such as borderline personality disorders. Atypical antipsychotics, valproate and carbamazepine demonstrated efficacy in a limited sample of RCTs. The number of RCTs in the treatment of mixed states is highly limited. Furthermore, nearly all studies were funded by pharmaceutical companies which may lead to an underestimation of classical mood stabilizers such as lithium.

Seronegative celiac disease: Shedding light on an obscure clinical entity.

PubMed

Volta, Umberto; Caio, Giacomo; Boschetti, Elisa; Giancola, Fiorella; Rhoden, Kerry J; Ruggeri, Eugenio; Paterini, Paola; De Giorgio, Roberto

2016-09-01

Although serological tests are useful for identifying celiac disease, it is well established that a minority of celiacs are seronegative. To define the prevalence and features of seronegative compared to seropositive celiac disease, and to establish whether celiac disease is a common cause of seronegative villous atrophy. Starting from 810 celiac disease diagnoses, seronegative patients were retrospectively characterized for clinical, histological and laboratory findings. Of the 810 patients, fourteen fulfilled the diagnostic criteria for seronegative celiac disease based on antibody negativity, villous atrophy, HLA-DQ2/-DQ8 positivity and clinical/histological improvement after gluten free diet. Compared to seropositive, seronegative celiac disease showed a significantly higher median age at diagnosis and a higher prevalence of classical phenotype (i.e., malabsorption), autoimmune disorders and severe villous atrophy. The most frequent diagnosis in the 31 cases with seronegative flat mucosa was celiac disease (45%), whereas other diagnoses were Giardiasis (20%), common variable immunodeficiency (16%) and autoimmune enteropathy (10%). Although rare seronegative celiac disease can be regarded as the most frequent cause of seronegative villous atrophy being characterized by a high median age at diagnosis; a close association with malabsorption and flat mucosa; and a high prevalence of autoimmune disorders. Copyright © 2016 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Clinical characterisation of pneumonia caused by atypical pathogens combining classic and novel predictors.

PubMed

Masiá, M; Gutiérrez, F; Padilla, S; Soldán, B; Mirete, C; Shum, C; Hernández, I; Royo, G; Martin-Hidalgo, A

2007-02-01

The aim of this study was to characterise community-acquired pneumonia (CAP) caused by atypical pathogens by combining distinctive clinical and epidemiological features and novel biological markers. A population-based prospective study of consecutive patients with CAP included investigation of biomarkers of bacterial infection, e.g., procalcitonin, C-reactive protein and lipopolysaccharide-binding protein (LBP) levels. Clinical, radiological and laboratory data for patients with CAP caused by atypical pathogens were compared by univariate and multivariate analysis with data for patients with typical pathogens and patients from whom no organisms were identified. Two predictive scoring models were developed with the most discriminatory variables from multivariate analysis. Of 493 patients, 94 had CAP caused by atypical pathogens. According to multivariate analysis, patients with atypical pneumonia were more likely to have normal white blood cell counts, have repetitive air-conditioning exposure, be aged <65 years, have elevated aspartate aminotransferase levels, have been exposed to birds, and have lower serum levels of LBP. Two different scoring systems were developed that predicted atypical pathogens with sensitivities of 35.2% and 48.8%, and specificities of 93% and 91%, respectively. The combination of selected patient characteristics and laboratory data identified up to half of the cases of atypical pneumonia with high specificity, which should help clinicians to optimise initial empirical therapy for CAP.

New and old roles of the peripheral and brain renin-angiotensin-aldosterone system (RAAS): Focus on cardiovascular and neurological diseases.

PubMed

Mascolo, A; Sessa, M; Scavone, C; De Angelis, A; Vitale, C; Berrino, L; Rossi, F; Rosano, G; Capuano, A

2017-01-15

It is commonly accepted that the renin-angiotensin-aldosterone system (RAAS) is a cardiovascular circulating hormonal system that plays also an important role in the modulation of several patterns in the brain. The pathway of the RAAS can be divided into two classes: the traditional pathway of RAAS, also named classic RAAS, and the non-classic RAAS. Both pathways play a role in both cardiovascular and neurological diseases through a peripheral or central control. In this regard, renewed interest is growing in the last years for the consideration that the brain RAAS could represent a new important therapeutic target to regulate not only the blood pressure via central nervous control, but also neurological diseases. However, the development of compounds able to cross the blood-brain barrier and to act on the brain RAAS is challenging, especially if the metabolic stability and the half-life are taken into consideration. To date, two drug classes (aminopeptidase type A inhibitors and angiotensin IV analogues) acting on the brain RAAS are in development in pre-clinical or clinical stages. In this article, we will present an overview of the biological functions played by peripheral and brain classic and non-classic pathways of the RAAS in several clinical conditions, focusing on the brain RAAS and on the new pharmacological targets of the RAAS. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Drug-induced psoriasis: clinical perspectives.

PubMed

Balak, Deepak Mw; Hajdarbegovic, Enes

2017-01-01

Exposure to certain drugs can elicit an induction or exacerbation of psoriasis. Although well-conducted systematic studies on drug-related psoriasis are mostly lacking, traditionally strong associations have been documented for beta-blockers, lithium, antimalarial drugs such as (hydroxy)chloroquine, interferons, imiquimod, and terbinafine. More recently, new associations have been reported for monoclonal antibody- and small-molecule-based targeted therapies used for oncological and immunological indications, such as tumor necrosis factor-alpha antagonists and anti-programmed cell death protein 1 immune checkpoint inhibitors. Recognizing potential drug-related psoriasis is of clinical relevance to allow an optimal management of psoriasis. However, in clinical practice, identifying medication-related exacerbations and induction of psoriasis can be challenging. The clinical and histopathological features of drug-provoked psoriasis may differ little from that of "classical" nondrug-related forms of psoriasis. In addition, the latency period between start of the medication and onset of psoriasis can be significantly long for some drugs. Assessment of the Naranjo adverse drug reaction probability scale could be used as a practical tool to better differentiate drug-related psoriasis. The first step in the management of drug-related psoriasis is cessation and replacement of the offending drug when deemed clinically possible. However, the induced psoriasis skin lesions may persist after treatment withdrawal. Additional skin-directed treatment options for drug-related psoriasis follows the conventional psoriasis treatment guidelines and includes topical steroids and vitamin D analogs, ultraviolet phototherapy, systemic treatments, such as acitretin, methotrexate, and fumaric acid esters, and biological treatments.

Autoimmune Subepidermal Bullous Diseases of the Skin and Mucosae: Clinical Features, Diagnosis, and Management.

PubMed

Amber, Kyle T; Murrell, Dedee F; Schmidt, Enno; Joly, Pascal; Borradori, Luca

2018-02-01

Autoimmune subepidermal blistering diseases of the skin and mucosae constitute a large group of sometimes devastating diseases, encompassing bullous pemphigoid, gestational pemphigoid, mucous membrane pemphigoid, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. Their clinical presentation is polymorphic. These autoimmune blistering diseases are associated with autoantibodies that target distinct components of the basement membrane zone of stratified epithelia. These autoantigens represent structural proteins important for maintenance of dermo-epidermal integrity. Bullous pemphigoid (BP) is the most common subepidermal autoimmune blistering disease of the skin and mucosae. Although the disease typically presents with a generalized blistering eruption associated with itch, atypical variants with either localized bullous lesions or "non-bullous" presentations are observed in approximately 20% of patients. A peculiar form of BP typically associated with pregnancy is pemphigoid gestationis. In anti-p200 pemphigoid, patients present with tense blisters on erythematosus or normal skin resembling BP, with a predilection for acral surfaces. These patients have antibodies targeting the 200-kDa basement membrane protein. Epidermolysis bullosa is a rare autoimmune blistering disease associated with autoantibodies against type VII collagen that can have several phenotypes including a classical form mimicking dystrophic epidermolysis bullosa, an inflammatory presentation mimicking BP, or mucous membrane pemphigoid-like lesions. Mucous membrane pemphigoid (MMP) is the term agreed upon by international consensus for an autoimmune blistering disorder, which affects one or more mucous membrane and may involve the skin. The condition involves a number of different autoantigens in the basement membrane zone. It may result in severe complications from scarring, such as blindness and strictures. Diagnosis of these diseases relies on direct immunofluorescence microscopy studies and immunoserological assays. Management of affected patients is often challenging. We will here review the clinical and immunopathological features as well as the pathophysiology of this group of organ-specific autoimmune diseases. Finally, we will discuss the diagnostic approach and the principles of management in clinical practice.

Applications of systems approaches in the study of rheumatic diseases.

PubMed

Kim, Ki-Jo; Lee, Saseong; Kim, Wan-Uk

2015-03-01

The complex interaction of molecules within a biological system constitutes a functional module. These modules are then acted upon by both internal and external factors, such as genetic and environmental stresses, which under certain conditions can manifest as complex disease phenotypes. Recent advances in high-throughput biological analyses, in combination with improved computational methods for data enrichment, functional annotation, and network visualization, have enabled a much deeper understanding of the mechanisms underlying important biological processes by identifying functional modules that are temporally and spatially perturbed in the context of disease development. Systems biology approaches such as these have produced compelling observations that would be impossible to replicate using classical methodologies, with greater insights expected as both the technology and methods improve in the coming years. Here, we examine the use of systems biology and network analysis in the study of a wide range of rheumatic diseases to better understand the underlying molecular and clinical features.

Has Neo-Darwinism failed clinical medicine: does systems biology have to?

PubMed

Joyner, Michael J

2015-01-01

In this essay I argue that Neo-Darwinism ultimately led to an oversimplified genotype equals phenotype view of human disease. This view has been called into question by the unexpected results of the Human Genome Project which has painted a far more complex picture of the genetic features of human disease than was anticipated. Cell centric Systems Biology is now attempting to reconcile this complexity. However, it too is limited because most common chronic diseases have systemic components not predicted by their intracellular responses alone. In this context, congestive heart failure is a classic example of this general problem and I discuss it as a systemic disease vs. one solely related to dysfunctional cardiomyocytes. I close by arguing that a physiological perspective is essential to reconcile reductionism with what is required to understand and treat disease. Copyright © 2014 Elsevier Ltd. All rights reserved.

TC99m MDP bone scan in evaluation of painful scoliosis

PubMed Central

Nilegaonkar, Sujit; Sonar, Sameer; Ranade, Ashish; Khadilkar, Madhav

2010-01-01

A 18-year-old male presented with low back ache. The patient was investigated and was diagnosed to have painful scoliosis. X-ray and other examinations could not reveal any diagnosis. The patient was referred to undergo bone scan on clinical suspicion of osteoid osteoma and to rule out stress fracture if any. Planar bone scan was performed, which showed a lesion in L3 vertebra and was further evaluated with SPECT (Single photon emission computed tomography) study to characterize the lesion. On SPECT examination, the classical features of osteoid osteoma, the double density sign (11), was noted in the pars interarticularis region. These findings were confirmed by a CT scan, which showed a sclerotic lesion in pars interarticularis of L3 vertebra. The patient was posted for operation and was relieved of symptoms in the postoperative follow-up. PMID:21188068

Ultrafast protein structure-based virtual screening with Panther

NASA Astrophysics Data System (ADS)

Niinivehmas, Sanna P.; Salokas, Kari; Lätti, Sakari; Raunio, Hannu; Pentikäinen, Olli T.

2015-10-01

Molecular docking is by far the most common method used in protein structure-based virtual screening. This paper presents Panther, a novel ultrafast multipurpose docking tool. In Panther, a simple shape-electrostatic model of the ligand-binding area of the protein is created by utilizing the protein crystal structure. The features of the possible ligands are then compared to the model by using a similarity search algorithm. On average, one ligand can be processed in a few minutes by using classical docking methods, whereas using Panther processing takes <1 s. The presented Panther protocol can be used in several applications, such as speeding up the early phases of drug discovery projects, reducing the number of failures in the clinical phase of the drug development process, and estimating the environmental toxicity of chemicals. Panther-code is available in our web pages (http://www.jyu.fi/panther) free of charge after registration.

Ultrafast protein structure-based virtual screening with Panther.

PubMed

Niinivehmas, Sanna P; Salokas, Kari; Lätti, Sakari; Raunio, Hannu; Pentikäinen, Olli T

2015-10-01

Molecular docking is by far the most common method used in protein structure-based virtual screening. This paper presents Panther, a novel ultrafast multipurpose docking tool. In Panther, a simple shape-electrostatic model of the ligand-binding area of the protein is created by utilizing the protein crystal structure. The features of the possible ligands are then compared to the model by using a similarity search algorithm. On average, one ligand can be processed in a few minutes by using classical docking methods, whereas using Panther processing takes <1 s. The presented Panther protocol can be used in several applications, such as speeding up the early phases of drug discovery projects, reducing the number of failures in the clinical phase of the drug development process, and estimating the environmental toxicity of chemicals. Panther-code is available in our web pages (http://www.jyu.fi/panther) free of charge after registration.

MANAGEMENT OF OTITIC HYDROCEPHALUS—With Particular Attention to the Effect of Antibiotics

PubMed Central

Barnes, LeRoy J.

1956-01-01

Otitic hydrocephalus as a complication of otitis media is probably not so rare as is generally assumed. The onset is insidious and first symptoms are vague. Even after signs of elevated cerebrospinal fluid pressure appear, differential diagnosis remains a difficult problem. On the basis of what is known of the pathologic features and clinical course of otitic hydrocephalus a plan for the prevention and management of this complication is suggested. In children and adolescents with a history of recurrent otitis media and other conditions likely to produce hydrocephalic disturbances, new episodes of otitis media must be treated along classical lines, notwithstanding supplementary use of antibiotics. After recovery, extended follow-up observation is required, which should include repeated ophthalmoscopic examinations. A finding of changes in the eyegrounds calls for neurologic evaluation. Energetic treatment, particularly daily spinal taps, may prevent ultimate blindness. PMID:13304693

Normocalcemic primary hyperparathyroidism

PubMed Central

Bilezikian, John P.; Silverberg, Shonni J.

2011-01-01

SUMMARY Primary hyperparathyroidism is a common disorder of mineral metabolism characterized by incompletely regulated, excessive secretion of parathyroid hormone from one or more of the parathyroid glands. The historical view of this disease describes two distinct entities marked by two eras. When primary hyperparathyroidism was first discovered about 80 years ago, it was always symptomatic with kidney stones, bone disease and marked hypercalcemia. With the advent of the multichannel autoanalyzer about 40 years ago, the clinical phenotype changed to a disorder characterized by mild hypercalcemia and the absence of classical other features of the disease. We may now be entering a 3rd era in the history of this disease in which patients are being discovered with normal total and ionized serum calcium concentrations but with parathyroid hormone levels that are consistently elevated. In this article, we describe this new entity, normocalcemic primary hyperparathyroidism, a forme fruste of the disease. PMID:20485897

Generalized subcutaneous edema as a rare manifestation of dermatomyositis: clinical lesson from a rare feature.

PubMed

Haroon, Muhammad; Eltahir, Ahmed; Harney, Sinead

2011-04-01

Generalized subcutaneous edema is a very rare manifestation of inflammatory myopathies. A 61-year-old woman presented with classic signs and symptoms of dermatomyositis. She was also noted to have generalized edema that was so florid that an alternative diagnosis was considered. Her disease was resistant to corticosteroids, azathioprine, and mycophenolate mofetil. Intravenous administration of immunoglobulins was started because of marked worsening of her disease-muscle weakness, generalized anasarca, and involvement of her bulbar muscles. This led to dramatic resolution of her subcutaneous edema and significant improvement of her skin and muscle disease. As the initial screen for malignancy was negative, a positron emission tomography-computed tomography scan was requested, which interestingly showed a metabolically active cervical tumor. Anasarca is an unusual manifestation of dermatomyositis. In treatment-refractory cases, it seems reasonable to consider positron emission tomography scan in excluding underlying malignant disease.

AAEM case report 16. Botulism. American Association of Electrodiagnostic Medicine.

PubMed

Maselli, R A; Bakshi, N

2000-07-01

Early diagnosis of botulism is essential for effective treatment. Electrophysiologic testing can be of major help to establish a prompt diagnosis, but the classic electrodiagnostic features of botulism are often elusive. Decrement or increment of compound muscle action potential (CMAP) amplitudes to slow or fast rates of nerve stimulation are often unimpressive or totally absent. Reduction of CMAP amplitudes, denervation activity, or myopathic-like motor unit potentials in affected muscles are found more frequently but they are less specific. In general, the electrophysiologic findings taken together suggest involvement of the motor nerve terminal, which should raise the possibility of botulism. The case reported here illustrates a common clinical presentation of botulism. This study emphasizes realistic expectations of the electrodiagnostic testing, the differential diagnosis, and the potential pitfalls often encountered in the interpretation of the electrophysiologic data. Copyright 2000 American Association of Electrodiagnostic Medicine.

Epidermolysis Bullosa Acquitsita

PubMed Central

Gupta, Rishu; Woodley, David T.; Chen, Mei

2011-01-01

EBA is a rare, acquired, chronic subepidermal bullous disease of the skin and mucosa characterized by autoantibodies to type VII collagen structures, a major component of anchoring fibrils, that attach the epidermis onto the dermis. EBA patients have tissue-bound as well as circulating anti-type VII collagen autoantibodies that attack type VII collagen and result in a reduction or perturbation of normally functioning anchoring fibrils. Patients with EBA have skin fragility, blisters, erosions, scars, milia, and nail loss: all features reminiscent of genetic dystrophic epidermolysis bullosa. These anti-type VII collagen antibodies are “pathogenic” because when injected into mice, the mice develop an EBA-like blistering disease. In addition to the classical mechanobullous presentation, EBA also has several other distinct clinical syndromes similar to bullous pemphigoid, Brunsting-Perry pemphigoid, or cicatricial pemphigoid. Although treatment for EBA is often unsatisfactory, some therapeutic success has been achieved with colchicine, dapsone, plasmaphoresis, photopheresis, infliximab, and intravenous immunoglobulin. PMID:22137228

Spermatocytic seminoma: review of the literature and description of a new case of the anaplastic variant.

PubMed

Lombardi, Mariano; Valli, Mirca; Brisigotti, Massimo; Rosai, Juan

2011-02-01

The aims of this paper were to review the literature of Spermatocytic Seminoma (SS) updating its clinico-pathological features and to present a new case of the exceptionally rare variant of this tumor known as anaplastic which only five cases have been reported. Many studies have confirmed that SS is a distinct neoplasm both clinically and pathologically from classical Seminoma and it differs from the latter especially in regard to behavior, characterized by an almost complete inability to metastasize with only very few convincing examples described with metastatic behavior. There is general agreement that orchidectomy is sufficient therapy for SS and that surveillance following surgery is the preferred management option. Surprisingly, the presence of an anaplastic component does not seem to impact on this excellent prognosis. Very different is the case of sarcomatous transformation, for which further therapy after orchiectomy is advisable.

Posterior impingement syndromes of the ankle.

PubMed

Lee, Justin C; Calder, James D F; Healy, Jeremiah C

2008-06-01

Acute, or repetitive, compression of the posterior structures of the ankle may lead to posterior ankle impingement (PAI) syndrome, posteromedial ankle impingement (PoMI) syndrome, or Haglund's syndrome. The etiology of each of these conditions is quite different. Variations in posterior ankle osseous and soft tissue anatomy contribute to the etiology of PAI and Haglund's syndromes. The presence of an os trigonum or Stieda process is classically associated with PAI syndrome, whereas a prominent posterosuperior tubercle of the os calcis or Haglund's deformity is the osseous predisposing factor in Haglund's syndrome. PoMI has no defined predisposing anatomical variants but typically follows an inversion-supination injury of the ankle joint. This article discusses the biomechanics, clinical features, imaging, and management of each of these conditions. Magnetic resonance imaging (MRI) provides the optimal tool in posterior ankle assessment, and this review focuses on the MRI findings of each of the conditions just listed.

Procedural Quantum Programming

NASA Astrophysics Data System (ADS)

Ömer, Bernhard

2002-09-01

While classical computing science has developed a variety of methods and programming languages around the concept of the universal computer, the typical description of quantum algorithms still uses a purely mathematical, non-constructive formalism which makes no difference between a hydrogen atom and a quantum computer. This paper investigates, how the concept of procedural programming languages, the most widely used classical formalism for describing and implementing algorithms, can be adopted to the field of quantum computing, and how non-classical features like the reversibility of unitary transformations, the non-observability of quantum states or the lack of copy and erase operations can be reflected semantically. It introduces the key concepts of procedural quantum programming (hybrid target architecture, operator hierarchy, quantum data types, memory management, etc.) and presents the experimental language QCL, which implements these principles.

Phase-Sensitive Coherence and the Classical-Quantum Boundary in Ghost Imaging

NASA Technical Reports Server (NTRS)

Erkmen, Baris I.; Hardy, Nicholas D.; Venkatraman, Dheera; Wong, Franco N. C.; Shapiro, Jeffrey H.

2011-01-01

The theory of partial coherence has a long and storied history in classical statistical optics. the vast majority of this work addresses fields that are statistically stationary in time, hence their complex envelopes only have phase-insensitive correlations. The quantum optics of squeezed-state generation, however, depends on nonlinear interactions producing baseband field operators with phase-insensitive and phase-sensitive correlations. Utilizing quantum light to enhance imaging has been a topic of considerable current interest, much of it involving biphotons, i.e., streams of entangled-photon pairs. Biphotons have been employed for quantum versions of optical coherence tomography, ghost imaging, holography, and lithography. However, their seemingly quantum features have been mimicked with classical-sate light, questioning wherein lies the classical-quantum boundary. We have shown, for the case of Gaussian-state light, that this boundary is intimately connected to the theory of phase-sensitive partial coherence. Here we present that theory, contrasting it with the familiar case of phase-insensitive partial coherence, and use it to elucidate the classical-quantum boundary of ghost imaging. We show, both theoretically and experimentally, that classical phase-sensitive light produces ghost imaging most closely mimicking those obtained in biphotons, and we derived the spatial resolution, image contrast, and signal-to-noise ratio of a standoff-sensing ghost imager, taking into account target-induced speckle.

A prototype analysis of forgiveness.

PubMed

Kearns, Jill N; Fincham, Frank D

2004-07-01

Many definitions of forgiveness currently exist in the literature. The current research adds to this discussion by utilizing a prototype approach to examine lay conceptions of forgiveness. A prototype approach involves categorizing objects or events in terms of their similarity to a good example, whereas a classical approach requires that there are essential elements that must be present. In Study 1, participants listed the features of forgiveness. Study 2 obtained centrality ratings for these features. In Studies 3 and 4, central features were found to be more salient in memory than peripheral features. Study 5 showed that feature centrality influenced participants' ratings of victims involved in hypothetical transgressions. Thus, the two criteria for demonstrating prototype structure (that participants find it meaningful to judge features in terms of their centrality and that centrality affects cognition) were met.

Associative Learning in Invertebrates

PubMed Central

Hawkins, Robert D.; Byrne, John H.

2015-01-01

This work reviews research on neural mechanisms of two types of associative learning in the marine mollusk Aplysia, classical conditioning of the gill- and siphon-withdrawal reflex and operant conditioning of feeding behavior. Basic classical conditioning is caused in part by activity-dependent facilitation at sensory neuron–motor neuron (SN–MN) synapses and involves a hybrid combination of activity-dependent presynaptic facilitation and Hebbian potentiation, which are coordinated by trans-synaptic signaling. Classical conditioning also shows several higher-order features, which might be explained by the known circuit connections in Aplysia. Operant conditioning is caused in part by a different type of mechanism, an intrinsic increase in excitability of an identified neuron in the central pattern generator (CPG) for feeding. However, for both classical and operant conditioning, adenylyl cyclase is a molecular site of convergence of the two signals that are associated. Learning in other invertebrate preparations also involves many of the same mechanisms, which may contribute to learning in vertebrates as well. PMID:25877219

Team building: electronic management-clinical translational research (eM-CTR) systems.

PubMed

Cecchetti, Alfred A; Parmanto, Bambang; Vecchio, Marcella L; Ahmad, Sjarif; Buch, Shama; Zgheib, Nathalie K; Groark, Stephen J; Vemuganti, Anupama; Romkes, Marjorie; Sciurba, Frank; Donahoe, Michael P; Branch, Robert A

2009-12-01

Classical drug exposure: response studies in clinical pharmacology represent the quintessential prototype for Bench to Bedside-Clinical Translational Research. A fundamental premise of this approach is for a multidisciplinary team of researchers to design and execute complex, in-depth mechanistic studies conducted in relatively small groups of subjects. The infrastructure support for this genre of clinical research is not well-handled by scaling down of infrastructure used for large Phase III clinical trials. We describe a novel, integrated strategy, whose focus is to support and manage a study using an Information Hub, Communication Hub, and Data Hub design. This design is illustrated by an application to a series of varied projects sponsored by Special Clinical Centers of Research in chronic obstructive pulmonary disease at the University of Pittsburgh. In contrast to classical informatics support, it is readily scalable to large studies. Our experience suggests the culture consequences of research group self-empowerment is not only economically efficient but transformative to the research process.

Atypical dust species in the ejecta of classical novae

NASA Astrophysics Data System (ADS)

Helton, L. A.; Evans, A.; Woodward, C. E.; Gehrz, R. D.

2011-03-01

A classical nova outburst arises from a thermonuclear runaway in the hydrogen-rich material accreted onto the surface of a white dwarf in a binary system. These explosions can produce copious amounts of heavy element enriched material that are ejected violently into the surrounding interstellar medium. In some novae, conditions in the ejecta are suitable for the formation of dust of various compositions, including silicates, amorphous carbon, silicon carbide, and hydrocarbons. Multiple dust grain types are sometimes produced in the same system. CO formation in novae may not reach saturation, thus invalidating the usual paradigm in which the C:O ratio determines the dust species. A few novae, such as V705 Cas and DZ Cru, have exhibited emission features near 6, 8, and 11 μmthat are similar to "Unidentified Infrared" (UIR) features, but with significant differences in position and band structure. Here, we present Spitzer IRS spectra of two recent dusty novae, V2361 Cyg and V2362 Cyg, that harbor similar peculiar emission structures superimposed on features arising from carbonaceous grains. In other astronomical objects, such as star forming regions and young stellar objects, emission peaks at 6.2, 7.7, and 11.3 μmhave been associated with polycyclic aromatic hydrocarbon (PAH) complexes. We suggest that hydrogenated amorphous carbon (HAC) may be the source of these features in novae based upon the spectral behavior of the emission features and the conditions under which the dust formed.

Cuprate High Temperature Superconductors and the Vision for Room Temperature Superconductivity

NASA Astrophysics Data System (ADS)

Newns, Dennis M.; Martyna, Glenn J.; Tsuei, Chang C.

Superconducting transition temperatures of 164 K in cuprate high temperature superconductors (HTS) and recently 200 K in H3S under high pressure encourage us to believe that room temperature superconductivity (RTS) might be possible. In considering paths to RTS, we contrast conventional (BCS) SC, such as probably manifested by H3S, with the unconventional superconductivity (SC) in the cuprate HTS family. Turning to SC models, we show that in the presence of one or more van Hove singularities (vHs) near the Fermi level, SC mediated by classical phonons (kBTc>ℏ×phonon frequency) can occur. The phonon frequency in the standard Tc formula is replaced by an electronic cutoff, enabling a much higher Tc independent of phonon frequency. The resulting Tc and isotope shift plot versus doping strongly resembles that seen experimentally in HTS. A more detailed theory of HTS, which involves mediation by classical phonons, satisfactorily reproduces the chief anomalous features characteristic of these materials. We propose that, while a path to RTS through an H3S-like scenario via strongly-coupled ultra-high frequency phonons is attractive, features perhaps unavailable at ordinary pressures, a route involving SC mediated by classical phonons which can be low frequency may be found.

The classical Taub-Nut system: factorization, spectrum generating algebra and solution to the equations of motion

NASA Astrophysics Data System (ADS)

Latini, Danilo; Ragnisco, Orlando

2015-05-01

The formalism of SUperSYmmetric quantum mechanics (SUSYQM) is properly modified in such a way to be suitable for the description and the solution of a classical maximally superintegrable Hamiltonian system, the so-called Taub-Nut system, associated with the Hamiltonian: In full agreement with the results recently derived by Ballesteros et al for the quantum case, we show that the classical Taub-Nut system shares a number of essential features with the Kepler system, that is just its Euclidean version arising in the limit η \\to 0, and for which a ‘SUSYQM’ approach has been recently introduced by Kuru and Negro. In particular, for positive η and negative energy the motion is always periodic; it turns out that the period depends upon η and goes to the Euclidean value as η \\to 0. Moreover, the maximal superintegrability is preserved by the η-deformation, due to the existence of a larger symmetry group related to an η-deformed Runge-Lenz vector, which ensures that in {{{R}}3} closed orbits are again ellipses. In this context, a deformed version of the third Kepler’s law is also recovered. The closing section is devoted to a discussion of the η \\lt 0 case, where new and partly unexpected features arise.