Search

The term exstrophy-epispadias complex refers to a group of midline defects ranging from epispadias to cloacal exstrophy. Bladder exstrophy is the most frequent malformation of this spectrum and it can present as a classical or a variant form. We report a case of a hybrid bladder exstrophy variant having some characteristics of both a duplicate bladder exstrophy and a superior vesical fistula.

Bacteria contain glycerol phosphate (GroP)-containing glycans, which are important constituents of cell-surface glycopolymers such as the teichoic acids of Gram-positive bacterial cell walls. These glycopolymers comprising GroP play crucial roles in bacterial physiology and virulence. Recently, the first identification of a GroP-containing glycan in mammals was reported as a variant form of O-mannosyl glycan on α-dystroglycan (α-DG). However, the biological significance of such GroP modification remains largely unknown. In this review, we provide an overview of this new discovery of GroP-containing glycan in mammals and then outline the recent progress in elucidating the biosynthetic mechanisms of GroP-containing glycans on α-DG. In addition, we discuss the potential biological role of GroP modification along with the challenges and prospects for further research. The progress in this newly identified glycan modification will provide insights into the phylogenetic implications of glycan.

Eruptive lingual papillitis is a common benign disorder manifested by inflammation of fungiform papillae on the dorsolateral surface of the tongue. Several variants of lingual papillitis have been reported since 1997, most or all of them with painful erythematous papules. Here we report a case of 6 years old girl child with non-painful severe variant form of eruptive lingual papillitis presented to the emergency department. The entire dorsal surface of the tongue was surfaced by 2-3mm by multiple erythematous papules and some with a white or yellowish colour. The papules were excessively inflamed, pigmented, aggregated, and crusted. The cause was idiopathic which resolved within ten days. The parent and patient were reassured with advice to practice oral hygiene. This is a rare case report describing non-painful lingual papillitis without a history of any prior episodes.

The entire world is dealing with this pandemic of COVID-19 since December 2019. And several variants of this SARS-COV2 virus have occurred and they have more impact on the increase in the mortality rate and it has now increased to more than 5 percent up till now which is quite an alarming state. But despite this, every day increasing mortality rate the vaccine which is now available for use is not considered to be effective by the general population due to their self-created myths and this leads them to be reluctant to the vaccine. And that’s why the vaccination process is still far slow as we know that the number of cases is getting increased day by day the immunization by the vaccine is much important to cope up with this challenging pandemic. There is a need to avoid the psychological considerations for the vaccination because vaccine provision is important to provide the maximum number of individuals with the vaccine so the more complex states of this variant form of viral infection could be deal with in a more sophisticated manner.

International audience; Mature lymphoid B-cell proliferations with hairy cells represent heterogeneous entities where specific diagnosis is difficult but important since it impacts therapeutic management. The clinical cases of variant hairy cell leukemia reported herein illustrate the persistence of a clear interest in the use of splenectomy as a therapeutic alternative. Furthermore, ibrutinib appears to be a promising treatment in patients with relapsed/refractory disease.

Bu makalede ismi mizrapata şeklinde yazılmış olan dinast Miθrapata’nın yeni sikke lejantları, özellikle varlığı artık sorgulanabilir olan diğer bir yazım formu mizrppata ile olası bağlantısı açısından incelenmektedir. Çift yazım şekli olan mizrapata/miθrapata ise döneme ya da lehçeye ait farklara bağlı yazım geleneklerinin bir sonucu olarak yorumlanabilir. Bu makalede ismi mizrapata şeklinde yazılmış olan dinast Miθrapata’nın yeni sikke lejantları, özellikle varlığı artık sorgulanabilir olan diğer bir yazım formu mizrppata ile olası bağlantısı açısından incelenmektedir. Çift yazım şekli olan mizrapata/miθrapata ise döneme ya da lehçeye ait farklara bağlı yazım geleneklerinin bir sonucu olarak yorumlanabilir., In this paper, the new coin legends of the dynast Miθrapata with a spelling variant mizrapata are analyzed, particularly regarding its possible connection to another variant form, mizrp-pata, whose existence can now be questioned. As for the double spelling mizrapata/miθrapata, it can be interpreted as the result of spelling traditions linked to chronological or dialectal factors. In this paper, the new coin legends of the dynast Miθrapata with a spelling variant mizrapata are analyzed, particularly regarding its possible connection to another variant form, mizrp-pata, whose existence can now be questioned. As for the double spelling mizrapata/miθrapata, it can be interpreted as the result of spelling traditions linked to chronological or dialectal factors.

This article describes the prevalence, diagnosis of chronic pelvic pain syndrome (CPPS) and negatively reflect on the quality of life of patients. Pelvic peritoneal adhesions are one of the most important causes of CPPS (17%). The mechanism of occurrence of adhesions in the abdominal cavity and peritoneal reaction to the action of various stimuli is not completely disclosed but the tendency to the formation of adhesions, is a variant form of undifferentiated connective tissue dysplasia.

Twins in hexagonal close-packed polycrystals, most often nucleate at grain-boundaries (GBs), propagate into the grain and terminate at opposing GBs. Regularly, multiple parallel twins of the same variant form inside the same grain. When twins terminate inside the grains, rather than the grain boundary, they tend to form a staggered structure. Whether a staggered twin structure or the more common grain spanning twin structure forms can greatly affect mechanical behavior. In this work, the underlying mechanism for the formation of staggered twins is studied using an elasto-visco-plastic fast Fourier transform model, which quantifies the local stresses associated with \( \left\{ {10\overline{1} 2} \right\} \)-type staggered twins in magnesium for different configurations. The model results suggest that when a twin tip is close to the lateral side of another twin, the driving force for twin propagation is significantly reduced. As a result, the staggered twin structure forms.

Creutzfeldt-Jakob Disease (CJD) is a rare neurodegenerative disease that causes a rapidly progressive dementia, and it can be classified as sporadic, heritable, and variant (acquired). In this paper, we report a case mimicking variant CJD, with phenotypic presentation and findings. A 44-year-old man was admitted to the emergency department with progressive neuropsychiatric symptoms and myoclonus. Signal hyperintensity in the bilateral basal ganglia and thalamus was detected via fluid attenuated inversion recovery (FLAIR) sequence and diffusion weighted magnetic resonance. 14.3.3 protein in cerebrospinal fluid was negative, and electroencephalography was atypical for sporadic CJD. After the diagnostic tests and follow-up, the patient was diagnosed with probable sporadic CJD, based on the World Health Organization’s (WHO) diagnostic criteria. His health deteriorated rapidly, and the patient died 2 months after the diagnosis. In this paper, we point out the differences between and the signs of variant CJD and sporadic CJD. When pathological confirmation is not possible, as in case of our patient, it is very helpful to consider the WHO diagnostic criteria. Variant CJD is a disorder that has not been reported in Turkey yet. Its diagnosis and reporting require direct interventions by the health and veterinary authorities.

[Resumo]: Neste artigo realízase o estudo formal e métrico de mais, procedente de MAGIS, que funciona como adverbio de cantidade e tamén como conxunción adversativa na lírica profana galego-portuguesa, o mesmo que na restante produción escrita medieval. No que respecta á cuestión da variación, móstrase como a presenza da forma reducida mas para os usos adversativos xa é importante tanto nas composicións procedentes do Cancioneiro da Ajuda como naqueloutras transmitidas polos apógrafos italianos; asemade, estúdase a variación das leccións manuscritas en casos puntuais en que tal partícula presenta diferente forma (mais, mas, maes) nos diversos manuscritos. No relativo ás cuestións métricas, reflexiónase sobre o comportamento de mais verbo da súa eventual bisilabicidade, que nunca foi xustificada nin razoada por medio da revisión sistemática da partícula en todo o corpus trobadoresco profano galego-portugués. Neste sentido, levántanse numerosos contextos emendados polos diversos editores e que confirman a posibilidade de contaxe bisilábica de mais. [Abstract]: This article examines the form and metre of the particle mais (derived from MAGIS), used in medieval secular Galician-Portuguese poetry (and all other written sources from that period) as both an adverb of quantity and an adversative conjunction. The study illustrates the widespread use of the shorter variant form mas for adversative functions from an early stage, in compositions from both the Cancionero de Ajuda and the Italian apographs. The article also analyses specific cases in which the form of the particle varies across the different transmitted versions of the manuscript (mais, mas, maes). The metrical analysis of the particle examines the behaviour of mais within the rhyme scheme, specifically in regard to its occurrence as a disyllabic unit. To account for and explain this pattern, the study offers the first comprehensive, systematic survey of the particle’s presence in the corpus of secular Galician-Portuguese troubadour poetry, restoring numerous examples of uses amended by previous editors, and confirming the occurrence of mais as disyllabic. Ministerio de Economía y Competitividad; FFI2009-08917 Ministerio de Economía y Competitividad; FFI2012-32801 Ministerio de Economía y Competitividad; FFI2015-63523-P

A remarkable assemblage of dinosaur trackways in the Winton Formation (Albian–Cenomanian) at Lark Quarry, in western Queensland, Australia, has long been regarded as evidence of a stampede involving small theropods, whose tracks were classified in the ichnogenus Skartopus, and small ornithopods, whose tracks represented a second ichnogenus, Wintonopus. However, one recently-published study has claimed that existing interpretation of Lark Quarry is incorrect: it maintains that all the track-makers were ornithopods, that the ichnogenus Skartopus is a variant form of Wintonopus, and that most of the Lark Quarry track-makers were not running but more probably swimming downstream in a current of water. Those iconoclastic claims are investigated here and shown to be untenable. They derive from overgeneralized interpretation of the Lark Quarry track assemblage and invoke ad hoc auxiliary hypotheses which are either untestable or demonstrably incorrect. Closer inspection of the evidence underpinning those...

Background and purpose Fisher syndrome (FS) may overlap with Guillain–Barre syndrome (GBS), in particular the pharyngeal–cervical–brachial variant form (PCB-GBS), or Bickerstaff brainstem encephalitis (BBE). Our aim was to elucidate the frequency of this overlap and the patterns of clinical progression in patients with FS. Methods Sixty consecutive patients with FS were studied. FS/PCB-GBS was diagnosed when the patients developed pharyngeal, cervical and/or brachial weakness. Patients with flaccid tetraparesis were diagnosed as having FS/conventional GBS. FS/BBE was defined as the development of consciousness disturbances. Results All 60 patients initially developed the FS clinical triad alone (pure FS). Of these, 30 (50%) patients had pure FS throughout their course, whereas the remaining 50% of patients showed an overlap: PCB-GBS in 14 (23%) patients, conventional GBS in nine (15%) patients and BBE in seven (12%) patients. The median (range) durations from FS onset to progression to FS/PCB-GBS, FS/GBS or FS/BBE were 5 (1–7), 3 (1–4) and 3 (1–5) days, respectively. Patients with overlap syndromes more frequently received immune-modulating treatment, and the outcomes were generally favourable. The frequencies of positivity for anti-GQ1b, GT1a, GD1a, GD1b, GalNAc-GD1a and GM1 antibodies were not significantly different amongst the four groups. Conclusions Of the patients with pure FS, 50% later developed an overlap with PCB-GBS, conventional GBS or BBE. The overlap occurred within 7 days of FS onset; thus, physicians should pay attention to the possible development of this overlap during the first week after FS onset.

Interleukin-1 receptor-like 1 (IL1RL1) is an important asthma gene. (Epi)genetic regulation ofIL1RL1protein expression has not been established. We assessed the association betweenIL1RL1single nucleotide polymorphisms (SNPs),IL1RL1methylation and serum IL1RL1-a protein levels, and aimed to identify causal pathways in asthma.Associations ofIL1RL1SNPs with asthma were determined in the Dutch Asthma Genome-wide Association Study cohort and three European birth cohorts, BAMSE (Children/Barn, Allergy, Milieu, Stockholm, an Epidemiological survey), INMA (Infancia y Medio Ambiente) and PIAMA (Prevention and Incidence of Asthma and Mite Allergy), participating in the Mechanisms of the Development of Allergy study. We performed blood DNAIL1RL1methylation quantitative trait locus (QTL) analysis (n=496) and (epi)genome-wide protein QTL analysis on serum IL1RL1-a levels (n=1462). We investigated the association ofIL1RL1CpG methylation with asthma (n=632) and IL1RL1-a levels (n=548), with subsequent causal inference testing. Finally, we determined the association of IL1RL1-a levels with asthma and its clinical characteristics (n=1101).IL1RL1asthma-risk SNPs strongly associated withIL1RL1methylation (rs1420101; p=3.7×10-16) and serum IL1RL1-a levels (p=2.8×10-56).IL1RL1methylation was not associated with asthma or IL1RL1-a levels. IL1RL1-a levels negatively correlated with blood eosinophil counts, whereas there was no association between IL1RL1-a levels and asthma.In conclusion, asthma-associatedIL1RL1SNPs strongly regulateIL1RL1methylation and serum IL1RL1-a levels, yet neither theseIL1RL1-methylation CpG sites nor IL1RL1-a levels are associated with asthma.

Interleukin-1 receptor-like 1 (IL1RL1) is an important asthma gene. (Epi)genetic regulation ofIL1RL1protein expression has not been established. We assessed the association betweenIL1RL1single nucleotide polymorphisms (SNPs),IL1RL1methylation and serum IL1RL1-a protein levels, and aimed to identify causal pathways in asthma.Associations ofIL1RL1SNPs with asthma were determined in the Dutch Asthma Genome-wide Association Study cohort and three European birth cohorts, BAMSE (Children/Barn, Allergy, Milieu, Stockholm, an Epidemiological survey), INMA (Infancia y Medio Ambiente) and PIAMA (Prevention and Incidence of Asthma and Mite Allergy), participating in the Mechanisms of the Development of Allergy study. We performed blood DNAIL1RL1methylation quantitative trait locus (QTL) analysis (n=496) and (epi)genome-wide protein QTL analysis on serum IL1RL1-a levels (n=1462). We investigated the association ofIL1RL1CpG methylation with asthma (n=632) and IL1RL1-a levels (n=548), with subsequent causal inference testing. Finally, we determined the association of IL1RL1-a levels with asthma and its clinical characteristics (n=1101).IL1RL1asthma-risk SNPs strongly associated withIL1RL1methylation (rs1420101; p=3.7×10-16) and serum IL1RL1-a levels (p=2.8×10-56).IL1RL1methylation was not associated with asthma or IL1RL1-a levels. IL1RL1-a levels negatively correlated with blood eosinophil counts, whereas there was no association between IL1RL1-a levels and asthma.In conclusion, asthma-associatedIL1RL1SNPs strongly regulateIL1RL1methylation and serum IL1RL1-a levels, yet neither theseIL1RL1-methylation CpG sites nor IL1RL1-a levels are associated with asthma.

Interleukin-1 receptor-like 1 (IL1RL1) is an important asthma gene. (Epi)genetic regulation ofIL1RL1protein expression has not been established. We assessed the association betweenIL1RL1single nucleotide polymorphisms (SNPs),IL1RL1methylation and serum IL1RL1-a protein levels, and aimed to identify causal pathways in asthma.Associations ofIL1RL1SNPs with asthma were determined in the Dutch Asthma Genome-wide Association Study cohort and three European birth cohorts, BAMSE (Children/Barn, Allergy, Milieu, Stockholm, an Epidemiological survey), INMA (Infancia y Medio Ambiente) and PIAMA (Prevention and Incidence of Asthma and Mite Allergy), participating in the Mechanisms of the Development of Allergy study. We performed blood DNAIL1RL1methylation quantitative trait locus (QTL) analysis (n=496) and (epi)genome-wide protein QTL analysis on serum IL1RL1-a levels (n=1462). We investigated the association ofIL1RL1CpG methylation with asthma (n=632) and IL1RL1-a levels (n=548), with subsequent causal inference testing. Finally, we determined the association of IL1RL1-a levels with asthma and its clinical characteristics (n=1101).IL1RL1asthma-risk SNPs strongly associated withIL1RL1methylation (rs1420101; p=3.7×10-16) and serum IL1RL1-a levels (p=2.8×10-56).IL1RL1methylation was not associated with asthma or IL1RL1-a levels. IL1RL1-a levels negatively correlated with blood eosinophil counts, whereas there was no association between IL1RL1-a levels and asthma.In conclusion, asthma-associatedIL1RL1SNPs strongly regulateIL1RL1methylation and serum IL1RL1-a levels, yet neither theseIL1RL1-methylation CpG sites nor IL1RL1-a levels are associated with asthma.

In the field of software evolution, simulating the software development process is an important tool to understand the reasons why some projects fail, yet others prosper. For each simulation however, there is a need to have an assessment of the simulation results. We use Conditional Random Fields, specifically a variant form based on the Ising model from theoretical physics, to assess software graph quality. Our CRF-based assessment model works on so called Software Graphs, where each node of that graph represents a software entity of the software project. The edges are determined by immediate dependencies between the pieces of software underlying the involved nodes.

Coronary arterial spasm has long been recognized to cause chest pain and myocardial ischemia, with attacks occurring predominantly at rest and during the night. In 1959, Prinzmetal et al. [(1)][1] described a “variant form of angina pectoris” that occurred at rest with ST-segment elevation or

Micro, small and medium business group is a labor-intensive, the use of a relatively small venture capital and technology tend to be simple. This business group has the potential to improve living standards. On the island of Lae-Lae District of Ujung Pandang Makassar City there are groups of small and medium enterprises (SMEs) that the Sinar Lae-Lae and the Anggur group. SME group is developing marine products such as fish, squid and seaweed. This business group has a lot of innovation in producing seafood products such as meatballs, shredded fish, sweets and crackers seaweed. The results of the discussion and identification of problems in the production of a group of SMEs found that the amount of production is limited because of production activities take place only at night when the electricity supply is available. Variations seaweed crackers produced limited and the packaging of the product be done without tools vacuum sealer. In addition, the packaging of sweets seaweed less attractive, is not hygienic and does not include the date of production. Targets were achieved in both groups of SMEs are to increase production through the installation of solar panels so that the production process can be done not only at night but also during the day. In addition, create a variant form of seaweed crackers crackers using molds, packaging more attractive by means of vacuum sealer, hygiene and labeling of products produced.

Clinical presentation of acute intermittent porphyria before puberty is unusual. We diagnosed the non-erythroid variant form of this disease in a male child, who first presented, at the age of 6 years, with unexplained neurological symptoms and behavioural abnormalities. We also report the successful treatment, and the long-term clinical management.

This article explores Leonard and Virginia Woolf's early interactions with the Women's Co-operative Guild and supplies a contextualised analysis of Virginia Woolf's preface to Life as We Have Known It (1931). Written to introduce a volume of autobiographical sketches by Co-operative Guildswomen and published in a variant form in the Yale Review, this essay has generated conflicting debate in Woolf studies. In this article I argue that the essay fictionalises Virginia Woolf's relationship with the Guild, concealing her familiarity with Guild activities to better engage an anticipated middle-class readership and promote frank interrogation of class prejudice.

Breastfeeding should be encouraged for every baby with few exceptions, classic galactosemia being one of them. Classic galactosemia causes death in newborns and can be identified early with newborn screening, or through the careful assessments of physicians, midwives, and lactation consultants in the first 4 days of life. All practitioners that assess newborns within the first 4 days of life should have a clear understanding of when to halt breastfeeding and when to support continuation of breastfeeding while keeping babies safe.

Prions are the protein-based, transmissible causative agents of a group of diseases known as transmissible spongiform encephalopathies (or prion diseases). These are considered rare, although Creutzfeldt–Jakob disease and a variant form of this disease (vCJD) have been a notable concern over the past 20 years. Prion diseases present unique risks to neurosurgery but may also be a concern for a wider range of surgical and medical procedures. They are not considered contagious but are transmissible via tissues and reusable device surfaces, as well as being highly resistant to decontamination. Understanding these diseases is important in the development of facility policies to reduce patient and staff risks. Examples include controls on tissue transplantation, the handling of waste and decontamination of reusable medical devices from surgical and other procedures. There is also debate over standard precautions in surgical practice against prion and potentially other protein-precipitating diseases. As our knowledge of these diseases improves there may be a need to consider a greater risk to patient safety, for example blood transfusions and ward-based procedures such as lumbar punctures. This article briefly considers what prions are, their associated diseases and risks with reusable devices that are reprocessed between patients.

Visual secret sharing (VSS) is a variant form of secret sharing, and is efficient since secret decoding only depends on the human vision system. However, cheating in VSS, first showed by Horng et al., is a significant issue like a limelight. Since then, plenty of studies for cheating activities and cheating prevention visual secret sharing (CPVSS) schemes have been introduced. In this paper, we revisit some well-known cheating activities and CPVSS schemes, and then categorize cheating activities into meaningful cheating, non-meaningful cheating, and meaningful deterministic cheating. Moreover, we analyze the research challenges in CPVSS, and propose a new cheating prevention scheme which is better than the previous schemes in the aspects of some security requirements.

Citrus byproducts (CBPs) are utilized as a low cost nutritional supplement to the diets of cattle and have been suggested to inhibit the growth of both Escherichia coli O157:H7 and Salmonella. The objective of this study was to examine the effects in vitro that varying concentrations of CBP in the powdered or pelleted variety have on the survival of Shiga-toxin Escherichia coli (STEC) serotypes O26:H11, O103:H8, O111:H8, O145:H28, and O157:H7 in bovine ruminal microorganism media. The O26:H11, O111:H8, O145:H28, and O157:H7 serotypes did not exhibit a change in populations in media supplemented with CBP with either variety. The O103:H8 serotype displayed a general trend for an approximate reduction in 5% powdered CBP and 20% pelleted CBP over 6 h. There was a trend for reductions in populations of a variant form of O157:H7 mutated in the stx1 and stx2 genes in higher concentrations of CBP. These results suggest that variations exist in the survival of these serotypes of STEC within mixed ruminal microorganism fluid media when supplemented with CBP. Further research is needed to determine why CBPs affect STEC serotypes differently.

Hairy cell leukemia cell lines expressing annexin A1 and displaying B-cell receptor signals characteristic of primary tumor cells lack the signature BRAF mutation to reveal unrepresentative origins

Two morphological types of prion protein (PrPsc) deposit occur in the cerebral cortex of cases of variant Creutzfeldt-Jakob disease (vCJD), viz., diffuse and florid deposits. The objective of this study was to determine whether diffuse-type PrPsc deposits in areas of the cerebral cortex in six cases of the variant form of CJD (vCJD) were spatially correlated with neurons and whether diffuse deposit size was related to the number of adjacent neurons contributing PrPsc. In cortical gyri, density of surviving neurons was 5.38-12.15 per 50 × 200 µm sample field, neurons being distributed randomly, regularly or were clustered relative to the pia mater. Density of neurons embedded within diffuse deposits, however, was three to eight times their overall density in the section. In addition, diffuse deposit area was positively correlated with the number of embedded neurons. The frequency distribution of diffuse deposits with 0, 1, 2, 3, …, n, embedded neurons did not deviate from a Poisson distribution. These results suggest: (1) diffuse deposits in vCJD develop in situ as a result of the formation of PrPsc in relation to clusters of neurons, (2) size of a diffuse deposit is determined by the number of adjacent neurons which develop PrPsc, and (3) the probability that PrPsc is formed in relation to one neuron is independent of that of its neighbour.

The angiomyxolipoma is a very rare clinical entity that is considered a variant form of a common lipoma or of a spindle-cell lipoma, however two distinct entities are currently controversial. We report a 56-year-old previous healthy woman who had chief complaint of slow growing mass on the right foot for 3 years. Radiologic examination, ultrasonography, excision biopsy, immunohistochemistry was evaluated. Final diagnosis of angiomyxolipoma was done. We reviewed current articles about angiomyxolipoma and compared with our result. We discussed about its clinical significance.

Using some properties of the general rising shifted factorial and the gamma function we derive a variant form of Dougallʼs F 4 5 summation for the classical hypergeometric functions. This variant form allows us to derive easily many Ramanujan type series for 1 / π and Ramanujan type series for some other constants.

We studied sound emission in the non-oscine Cuban Tody (Todus multicolor) to quantify its acoustic repertoire and to document geographic variation in its songs across the Cuban archipelago. Cuban Todies emitted three types of sounds. The characteristic song of the species was recorded from 98% of 116 individuals. The characteristic song of the species and a variant form recorded from two individuals consisted of trains of multi-harmonic short, downward frequency modulated notes emitted at peak frequencies below 4 kHz. A third type of sound in the limited repertoire of the species recorded from two birds is presumably produced with the wings and appears in the spectrograms as a train of short clicks with frequencies also below 4 kHz. Evidence of geographic variation was found in the characteristic song. Birds from Isla de la Juventud and Pinar del Rio emitted more notes per train spaced at longer intervals than birds from the rest of the provinces. The peak frequency of the notes had lower values ...

Gaucher disease occurs mainly as a result of a deficiency of the lysosomal enzyme beta-glucocerebrosidase activity. A rare variant form of Gaucher disease is known in which saposin C required for glucosylceramide degradation is deficient. In an earlier paper we described the first cases of two siblings with the non-neuronopathic form of Gaucher disease caused by saposin C deficiency [Tylki-Szymanska et al., 2007 [1]]. In this article, we present a follow up of clinical and biochemical findings in one patient who has been treated with miglustat for two years. We observed that administration of miglustat failed to exert any favorable effect on the clinical condition, haematological parameters and glucosylceramide level in the serum. In two individuals (described in this article) very slow deterioration of the peripheral and central nervous systems was observed. (C) 2011 Elsevier Inc. All rights reserved

Reel syndrome is a variant form of twiddler's syndrome. We describe a 53 years old woman who was referred to our hospital because of symptomatic sinus bradycardia. Subsequently she underwent dual chamber pacemaker implantation and was sent back to the previous hospital on the following day. She was referred again because of sudden syncope due to low heart rate 2 weeks following implantation. Chest X-ray revealed leads had pulled out of the heart and coiled up around the pacemaker generator; a diagnosis of reel syndrome was made. The difference between the two syndromes, risk factors and preventive measures were discussed.

Dens Invaginatus (DI) is a rare developmental anomaly, which presents as an infolding of enamel and dentine extending into the pulp chamber and sometimes into the root. The aim of this case report was to describe its radiographic findings, to emphasize the inexplicable morphology. Considering the likelihood of an early pulpal involvement and the chronic periapical lesions often associated with this anomaly without any clinical symptoms, dens invaginatus is clinically significant. Difficulties are encountered during the endodontic treatment, owing to the complex root canal anatomy. Therefore, a proper diagnosis and evaluation of the anomaly is essential to save the involved tooth.

A cardiomiopatia hipertrofica obstrutiva medio-ventricular e uma variante rara (1%) da cardiomiopatia hipertrofica obstrutiva. Neste relato de caso, apresentamos uma paciente encaminhada para realizacao de cateterismo cardiaco eletivo por angina e dispneia aos moderados esforcos, sem obstrucao coronariana significativa e com ventriculografia esquerda, demostrando cardiomiopatia hipertrofica obstrutiva medio-ventricular com um gradiente pressorico intraventricular de 130 mmHg.

Various research efforts would benefit from the ability to exchange and share information (traces with packet payloads, or other detailed system logs) to enable more data-driven research. Protection of the sensitive content is crucial for extensive information sharing. We present results of Kencl and Loebl (2009) [41] and Blamey et al. (in preparation) [4] about a technique of information concealing, based on introduction and maintenance of families of repeats. The structure of repeats in DNA constitutes an important obstacle for its reconstruction by hybridisation. A large proportion of eukaryotic genomes is composed of DNA segments that are repeated either precisely or in variant form more than once. As yet, no function has been associated with many of the repeats. In the paper by Blamey et al. (in preparation) [4], the authors propose that in eukaryotes the cells have DNA as a depositary of concealed genetic information and the genome achieves the self-concealing by accumulation and maintenance of repeats. The protected information may be shared and this is useful for the development of intercellular communication and in the development of multicellular organisms. The results presented here are protected by Czech patent number 301799 and by US Patent Application number 12/670.

In this paper we study square integrable representations and L -functions for quasisplit general spin groups over a p-adic field. In the first part, the holomorphy of L -functions in a half plane is proved by using a variant formof Casselman's square integrability criterion and the Langlands–Shahidi method. The remaining part focuses on the proof of the standard module conjecture. We generalize Muić's idea via the Langlands–Shahidimethod towards a proof of the conjecture. It is used in the work of M. Asgari and F. Shahidi on generic transfer for general spin groups.

Using a historical approach, this paper revisits Max Weber's ‘Protestant ethic’, addressing in particular a variant form of it – the ‘Scottish work ethic’. It examines that ethic as both a collective and individuated theological drive that helped shape the proto-entrepreneurial proclivity of the Scottish people. The Scottish work ethic is a secularized drive peculiar to Scotland with its strong Calvinistic religious heritage and emphasis on hard work, thrift and education. From an academic perspective, although much has been written about the Protestant ethic and Weber's thesis, the same cannot be said of the Scottish work ethic. This paper fills this gap in the literature while extending consideration of the nature of the work ethic to include the power of religion and theological drives in the creation of the prevalent spirit of enterprise within a people.

A 17-year-old woman had acute myeloid leukaemia (AML) with a leucocyte count of about 100 times 109/1. The great majority of the leucocytes were immature. About half of them were without granules; in the other half the granules were usually scanty, but occasionally numerous and rather coarse. A few cells had Auer rods arranged in bundles. The patient had uncompensated disseminated intravascular coagulation (DIC) with a severe tendency to bleed. Everything fitted with variant hypergranular promyelocytic leukaemia, except for the staining of 30% of the immature cells by Loffler's unspecific esterase with α-naphthyl acetate. The patient may, therefore, be classified as either a variant of variant form M3, or as a transition between M3 and acute monocytic leukaemia.

SummaryA 67-year-old woman without history of heart disease was admitted with chest oppression. Her electrocardiogram (ECG) at the time of admission showed ST segment elevation in leads V2–V6. Cardiac ultrasound revealed severe hypokinesis in mid to apical portion of anterior wall. Emergent coronary angiography showed normal coronary arteries. Left ventriculography (LVG) revealed akinesis of mid portion of anterior and inferior wall with hyperkinesis of apex and basal portion of anterior and inferior wall. Cardiac ultrasound examination 3 months later revealed improvement in LV contraction without mid-ventricular akisesia. The LVG performed 6 months later showed no focal asynergy. In I-123-beta-metyl-iodophenyl pentadecanoic acid myocardial scintigraphy the discrepancy of uptake between apical and anterior and inferior wall of mid region (more uptake in apex) was reduced. Using I-123-meta-iodobenzyl-guanidine myocardial scintigraphy in acute phase, decreased uptake in the mid portion of anterior and inferior to lateral wall was seen in early and delayed images and that persisted through 6 months. As these findings resembled those of Takotsubo cardiomyopathy other than affected region, it is possible to say that basically they belong to same entity of disease but they are different in their phenotype.

I argue that the so-called 'hard' problem of consciousness ' the problem of how consciousness is possible at all, and how it 'connects' with matter ' is only an artefact of the ways in which human scientists approach consciousness and (more generally) mind. Putting the point paradoxically but also quite precisely: the efforts to solve the mind'body problem, and this its latest variant form, are the very disease of which they take themselves to be the cure. I give examples drawn from sociology and from philosophy to support this claim, and then try to mitigate this vicious consequence of Cognitivism in both disciplines by offering a Wittgensteinian dissolution of the (pseudo-)problem as an alternative to (hopeless) cognitivist efforts to solve it.

The astonishing use of the double infinitive absolute with the verb, attested only in Gen. viii 5, has not yet been explained satisfactorily. The present paper argues that this construction is neither a variant form of the periphrastic participle, nor that serves as a pluperfect. Instead, the two infinitives provide an adverbial modification for the main verb by specifically marking durativity and/or iterativity. However, precisely the combination with appears to be special. The past tense indicator, itself being semantically void here, has been employed instead of a full verb, even though such a full verb would normally be expected with this expression, in order to retrieve a piece of information given in Gen. viii 3 and move it from the background to the foreground. It is thus the information structure which conditions the author's decision to explicitly mark the durative Aktionsart.

To elucidate the correlation of autoimmune pancreatitis (AIP) and mass-forming pancreatitis, in which a localized mass is formed in the pancreas.Nine cases of mass-forming pancreatitis were divided into two groups, one consisting of cases that met the histological diagnostic criteria for AIP by the Japan Pancreas Society (JPS) and the other consisting of cases which did not. Histological findings, immunohistological findings, and pancreatograms were compared between these groups.Six cases met the histological criteria of JPS (group A) and the other three did not (group B). In the mass-forming portion in group A, the wall of the pancreatic duct showed marked thickening. However, the epithelium was well preserved, and dilatation of the branch ducts or protein plugs were rarely observed. All cases showed marked obliterative phlebitis. The IgG4 labeling index (LI) was 25% or more in all but one case. In the portion other than the mass, the lobular structure was well preserved and the IgG4 LI was less than 10%. The pancreatogram showed localized stenosis or obstruction at the site of the mass associated with a normal-appearing main pancreatic duct in the remaining portion. In group B, histological findings typical of chronic pancreatitis with dilated branch ducts and protein plugs were observed. Obliterative phlebitis was not confirmed. The IgG4 LI in the mass-forming portion was low (2.3%-11.1%).There exists a subgroup of AIP showing localized mass formation and stenosis or obstruction of the main pancreatic duct with prominent obliterative phlebitis associated with a normal ductal segment.