362 research outputs found
Resection of phaeochromocytoma extending into the right atrium in a patient with multiple endocrine neoplasia type 2A
We report the first case of successful surgical resection of a malignant phaeochromocytoma with tumour extension into vena cava and right atrium in a patient with multiple endocrine neoplasia type 2A. A 21-year-old woman with genetic confirmation of multiple endocrine neoplasia type 2A syndrome was diagnosed with a very rare case of malignant phaeochromocytoma with tumour thrombus extension into vena cava and right atrium causing Budd-Chiari syndrome. It posed a challenge to the surgeons with regard to complete tumour resection and vascular control. Reviewing the limited literature, surgical resection by means of cardiopulmonary bypass with hypothermic circulatory arrest has been reported with success in phaeochromocytoma with advance vascular involvement. Adopting this approach, adrenalectomy with complete thrombus excision by inferior vena cava exploration and right atriotomy were performed successfully by a multidisciplinary team.published_or_final_versio
Total thyroidectomy replaces subtotal thyroidectomy as the preferred surgical treatment for Graves' disease
Background: Total thyroidectomy is increasingly being adopted for patients requiring surgical treatment for Graves' disease based on a comparable surgical risk and the lack of recurrence, as well as the questionable ability of subtotal thyroidectomy to maintain euthyroidism. The purpose of the present paper was to evaluate its safety and efficiency. Methods: Total thyroidectomy was adopted as part of the routine surgical treatment for Graves' disease from 2000. Patients who underwent subtotal thyroidectomy (STT) from 1995 to 1999 (n = 119) were compared with those who underwent total thyroidectomy (TT) from 2000 to 2003 (n = 98) with respect to immediate postoperative morbidity and long-term outcome. Results: Fourteen (11.8%) and 22 patients (22.4%) required calcium supplement on discharge in the STT and TT groups, respectively (P < 0.05). One (0.8%) and three patients (3.1%) developed permanent hypocalcaemia, respectively. Transient recurrent laryngeal nerve palsy occurred in 9.2% (n = 11) and 5.1% (n = 5) of patients or 5.0% and 2.6% of nerves at risk after STT and TT, respectively. None of the patients had permanent nerve palsy. The estimated blood loss was less and hospital stay shorter after TT. During a mean follow up of 64 months, 86 patients (72.3%) in the STT group required thyroxine replacement and seven patients (5.9%) developed relapse. Conclusion: Subtotal thyroidectomy was associated with relapse as well as hypothyroidism in a significant proportion of patients during long-term follow up. Total thyroidectomy can be performed as safely as STT and should be recommended as the procedure of choice for patients requiring surgical treatment for Graves' disease.postprin
Characterization of In Vivo Keratin 19 Phosphorylation on Tyrosine-391
Keratin polypeptide 19 (K19) is a type I intermediate filament protein that is expressed in stratified and simple-type epithelia. Although K19 is known to be phosphorylated on tyrosine residue(s), conclusive site-specific characterization of these residue(s) and identification potential kinases that may be involved has not been reported.In this study, biochemical, molecular and immunological approaches were undertaken in order to identify and characterize K19 tyrosine phosphorylation. Upon treatment with pervanadate, a tyrosine phosphatase inhibitor, human K19 (hK19) was phosphorylated on tyrosine 391, located in the 'tail' domain of the protein. K19 Y391 phosphorylation was confirmed using site-directed mutagenesis and cell transfection coupled with the generation of a K19 phospho (p)-Y391-specific rabbit antibody. The antibody also recognized mouse phospho-K19 (K19 pY394). This tyrosine residue is not phosphorylated under basal conditions, but becomes phosphorylated in the presence of Src kinase in vitro and in cells expressing constitutively-active Src. Pervanadate treatment in vivo resulted in phosphorylation of K19 Y394 and Y391 in colonic epithelial cells of non-transgenic mice and hK19-overexpressing mice, respectively.Human K19 tyrosine 391 is phosphorylated, potentially by Src kinase, and is the first well-defined tyrosine phosphorylation site of any keratin protein. The lack of detection of K19 pY391 in the absence of tyrosine phosphatase inhibition suggests that its phosphorylation is highly dynamic
Clinical course, costs and predictive factors for response to treatment in carpal tunnel syndrome: The PALMS study protocol
Background Carpal tunnel syndrome (CTS) is the most common neuropathy of the upper limb and a significant contributor to hand functional impairment and disability. Effective treatment options include conservative and surgical interventions, however it is not possible at present to predict the outcome of treatment. The primary aim of this study is to identify which baseline clinical factors predict a good outcome from conservative treatment (by injection) or surgery in patients diagnosed with carpal tunnel syndrome. Secondary aims are to describe the clinical course and progression of CTS, and to describe and predict the UK cost of CTS to the individual, National Health Service (NHS) and society over a two year period. Methods/Design In this prospective observational cohort study patients presenting with clinical signs and symptoms typical of CTS and in whom the diagnosis is confirmed by nerve conduction studies are invited to participate. Data on putative predictive factors are collected at baseline and follow-up through patient questionnaires and include standardised measures of symptom severity, hand function, psychological and physical health, comorbidity and quality of life. Resource use and cost over the 2 year period such as prescribed medications, NHS and private healthcare contacts are also collected through patient self-report at 6, 12, 18 and 24 months. The primary outcome used to classify treatment success or failures will be a 5-point global assessment of change. Secondary outcomes include changes in clinical symptoms, functioning, psychological health, quality of life and resource use. A multivariable model of factors which predict outcome and cost will be developed. Discussion This prospective cohort study will provide important data on the clinical course and UK costs of CTS over a two-year period and begin to identify predictive factors for treatment success from conservative and surgical interventions
Surface electrons at plasma walls
In this chapter we introduce a microscopic modelling of the surplus electrons
on the plasma wall which complements the classical description of the plasma
sheath. First we introduce a model for the electron surface layer to study the
quasistationary electron distribution and the potential at an unbiased plasma
wall. Then we calculate sticking coefficients and desorption times for electron
trapping in the image states. Finally we study how surplus electrons affect
light scattering and how charge signatures offer the possibility of a novel
charge measurement for dust grains.Comment: To appear in Complex Plasmas: Scientific Challenges and Technological
Opportunities, Editors: M. Bonitz, K. Becker, J. Lopez and H. Thomse
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy
Purpose: Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 patients with nonsyndromic retinopathy due to novel CLN7/MFSD8 mutation combinations were investigated in this study. Methods: Affected patients and their family members were recruited in ophthalmic clinics at each center where they were examined by retinal imaging and detailed electrophysiology. Whole exome or genome next generation sequencing was performed on genomic DNA from at least one affected family member. Immunofluorescence confocal microscopy of murine retina cross-sections were used to localize the protein. Results: Compound heterozygous alleles were identified in six cases, one of which was always p.Glu336Gln. Such combinations resulted in isolated macular disease. Six further cases were homozygous for the variant p.Met454Thr, identified as a founder mutation of South Asian origin. Those patients had widespread generalized retinal disease, characterized by electroretinography as a rod-cone dystrophy with severe macular involvement. In addition, the photopic single flash electroretinograms demonstrated a reduced b- to a-wave amplitude ratio, suggesting dysfunction occurring after phototransduction. Immunohistology identified MFSD8 in the outer plexiform layer of the retina, a site rich in photoreceptor synapses. Conclusions: This study highlights a hierarchy of MFSD8 variant severity, predicting three consequences of mutation: (1) nonsyndromic localized maculopathy, (2) nonsyndromic widespread retinopathy, or (3) syndromic neurological disease. The data also shed light on the underlying pathogenesis by implicating the photoreceptor synaptic terminals as the major site of retinal disease
Developmental changes in the role of different metalinguistic awareness skills in Chinese reading acquisition from preschool to third grade
Copyright @ 2014 Wei et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted
use, distribution, and reproduction in any medium, provided the original author and source are credited.The present study investigated the relationship between Chinese reading skills and metalinguistic awareness skills such as phonological, morphological, and orthographic awareness for 101 Preschool, 94 Grade-1, 98 Grade-2, and 98 Grade-3 children from two primary schools in Mainland China. The aim of the study was to examine how each of these metalinguistic awareness skills would exert their influence on the success of reading in Chinese with age. The results showed that all three metalinguistic awareness skills significantly predicted reading success. It further revealed that orthographic awareness played a dominant role in the early stages of reading acquisition, and its influence decreased with age, while the opposite was true for the contribution of morphological awareness. The results were in stark contrast with studies in English, where phonological awareness is typically shown as the single most potent metalinguistic awareness factor in literacy acquisition. In order to account for the current data, a three-stage model of reading acquisition in Chinese is discussed.National Natural Science Foundation of China and Knowledge Innovation Program of the
Chinese Academy of Sciences
Urine-based testing for Chlamydia trachomatis among young adults in a population-based survey in Croatia: Feasibility and prevalence
<p>Abstract</p> <p>Background</p> <p>We assessed the feasibility of collecting urine samples for testing on genital <it>Chlamydia trachomatis </it>infection in a population-based survey, and prevalence of this infection among young people aged 18-25 in Croatia. In Croatia, as in the other countries of Eastern Europe, there is a lack of data on prevalence of <it>C trachomatis </it>in the general population, including young adults.</p> <p>Methods</p> <p>We sampled participants using a nationally representative, multi-stage stratified probability sample of young men and women. Detection of <it>C trachomatis </it>DNA in urine samples was performed by using a real-time PCR assay COBAS<sup>® </sup>TaqMan<sup>® </sup>CT Test, v2.0.</p> <p>Results</p> <p>Overall, 1005 young adults participated in the behavioural part of the survey, and 27.9% men and 37.5% women who were sexually experienced agreed to provide urine samples for testing on <it>C trachomatis</it>. Using multivariate analysis, women were significantly more likely to provide urine samples than men (aOR = 1.53, 95% CI 1.14-2.06) as were those who reported no condom use at last intercourse (aOR = 1.95, 95% CI 1.44-2.62). Prevalence of <it>C trachomatis </it>infection among those who were sexually experienced was 7.3% in men and 5.3% in women.</p> <p>Conclusions</p> <p>Population-based surveys that use probabilistic sampling are a feasible way to obtain population estimates of <it>C trachomatis </it>prevalence among young adults in Croatia, but it is challenging to obtain an adequate response rate. The prevalence of <it>C trachomatis </it>among young adults in Croatia found in this study was higher than that found in other European countries with similar survey response rates.</p
A dysflagellar mutant of Leishmania (Viannia) braziliensis isolated from a cutaneous leishmaniasis patient
<p>Abstract</p> <p>Background</p> <p>Parasites of the <it>Leishmania </it>genus alternate between the flagellated extracellular promastigote stage and intracellular amastigotes. Here we report the characterization of a <it>Leishmania </it>isolate, obtained from a cutaneous leishmaniasis patient, which presents peculiar morphological features.</p> <p>Methods</p> <p>The parasite was cultured <it>in vitro </it>and characterized morphologically using optical and electron microscopy. Identification was performed based on monoclonal antibodies and internal ribosomal spacer typing. <it>In vitro </it>macrophage cultures, murine experimental models and sand fly infections were used to evaluate infectivity <it>in vitro </it>and <it>in vivo</it>.</p> <p>Results</p> <p>The isolate was identified as <it>Leishmania </it>(<it>Viannia</it>) <it>braziliensis</it>. In the atypical promastigotes grown in culture, a short flagellum surrounded or interrupted by a protuberance of disorganized material was observed. A normal axoneme was present close to the basal body but without elongation much further outside the flagellar pocket. A disorganized swelling at the precocious end of the axoneme coincided with the lack of a paraflagellar rod structure. The isolate was able to infect macrophages <it>in vitro</it>, induce lesions in BALB/c mice and infect <it>Lutzomyia longipalpis</it>.</p> <p>Conclusions</p> <p>Notwithstanding the lack of an extracellular flagellum, this isolate infects macrophages <it>in vitro </it>and produces lesions when inoculated into mice. Moreover, it is able to colonize phlebotomine sand flies. Considering the importance attributed to the flagellum in the successful infection and survival of <it>Leishmania </it>in the insect midgut and in the invasion of macrophages, these findings may bring new light into the infectious mechanisms of <it>L</it>. (<it>V</it>.) <it>braziliensis</it>.</p
Global and regional brain metabolic scaling and its functional consequences
Background: Information processing in the brain requires large amounts of
metabolic energy, the spatial distribution of which is highly heterogeneous
reflecting complex activity patterns in the mammalian brain.
Results: Here, it is found based on empirical data that, despite this
heterogeneity, the volume-specific cerebral glucose metabolic rate of many
different brain structures scales with brain volume with almost the same
exponent around -0.15. The exception is white matter, the metabolism of which
seems to scale with a standard specific exponent -1/4. The scaling exponents
for the total oxygen and glucose consumptions in the brain in relation to its
volume are identical and equal to , which is significantly larger
than the exponents 3/4 and 2/3 suggested for whole body basal metabolism on
body mass.
Conclusions: These findings show explicitly that in mammals (i)
volume-specific scaling exponents of the cerebral energy expenditure in
different brain parts are approximately constant (except brain stem
structures), and (ii) the total cerebral metabolic exponent against brain
volume is greater than the much-cited Kleiber's 3/4 exponent. The
neurophysiological factors that might account for the regional uniformity of
the exponents and for the excessive scaling of the total brain metabolism are
discussed, along with the relationship between brain metabolic scaling and
computation.Comment: Brain metabolism scales with its mass well above 3/4 exponen
- …