1,439 research outputs found
Pediatric joint hypermobility: a diagnostic framework and narrative review
BACKGROUND: Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are debilitating conditions. Diagnosis is currently clinical in the absence of biomarkers, and criteria developed for adults are difficult to use in children and biologically immature adolescents. Generalized joint hypermobility (GJH) is a prerequisite for hEDS and generalized HSD. Current literature identifies a large proportion of children as hypermobile using a Beighton score ≥ 4 or 5/9, the cut off for GJH in adults. Other phenotypic features from the 2017 hEDS criteria can arise over time. Finally, many comorbidities described in hEDS/HSD are also seen in the general pediatric and adolescent population. Therefore, pediatric specific criteria are needed. The Paediatric Working Group of the International Consortium on EDS and HSD has developed a pediatric diagnostic framework presented here. The work was informed by a review of the published evidence. OBSERVATIONS: The framework has 4 components, GJH, skin and tissue abnormalities, musculoskeletal complications, and core comorbidities. A Beighton score of ≥ 6/9 best identifies children with GJH at 2 standard deviations above average, based on published general population data. Skin and soft tissue changes include soft skin, stretchy skin, atrophic scars, stretch marks, piezogenic papules, and recurrent hernias. Two symptomatic groups were agreed: musculoskeletal and systemic. Emerging comorbid relationships are discussed. The framework generates 8 subgroups, 4 pediatric GJH, and 4 pediatric generalized hypermobility spectrum disorders. hEDS is reserved for biologically mature adolescents who meet the 2017 criteria, which also covers even rarer types of Ehlers-Danlos syndrome at any age. CONCLUSIONS: This framework allows hypermobile children to be categorized into a group describing their phenotypic and symptomatic presentation. It clarifies the recommendation that comorbidities should be defined using their current internationally accepted frameworks. This provides a foundation for improving clinical care and research quality in this population
Gate-Controlled Ionization and Screening of Cobalt Adatoms on a Graphene Surface
We describe scanning tunneling spectroscopy (STS) measurements performed on
individual cobalt (Co) atoms deposited onto backgated graphene devices. We find
that Co adatoms on graphene can be ionized by either the application of a
global backgate voltage or by the application of a local electric field from a
scanning tunneling microscope (STM) tip. Large screening clouds are observed to
form around Co adatoms ionized in this way, and we observe that some intrinsic
graphene defects display a similar behavior. Our results provide new insight
into charged impurity scattering in graphene, as well as the possibility of
using graphene devices as chemical sensors.Comment: 19 pages, 4 figure
Inverse Association between trans Isomeric and Long-Chain Polyunsaturated Fatty Acids in Pregnant Women and Their Newborns: Data from Three European Countries
Background: trans unsaturated fatty acids are thought to interfere with essential fatty acid metabolism. To extend our knowledge of this phenomenon, we investigated the relationship between trans isomeric and long-chain polyunsaturated fatty acids (LCPUFA) in mothers during pregnancy and in their infants at birth. Methods: Fatty acid composition of erythrocyte phosphatidylcholine (PC) and phosphatidylethanolamine (PE) was determined in Spanish (n = 120), German (n = 78) and Hungarian (n = 43) women at the 20th and 30th week of gestation, at delivery and in their newborns. Results: At the 20th week of gestation, the sum of trans fatty acids in PE was significantly (p < 0.01) lower in Hungarian [0.73 (0.51), % wt/wt, median (IQR)] than in Spanish [1.42 (1.36)] and German [1.30 (1.21)] women. Docosahexaenoic acid (DHA) values in PE were significantly (p < 0.01) higher in Hungarian {[}5.65 (2.09)] than in Spanish [4.37 (2.60)] or German [4.39 (3.3.2)] women. The sum of trans fatty acids significantly inversely correlated to DHA in PCs in Spanish (r = -0.37, p < 0.001), German (n = -0.77, p < 0.001) and Hungarian (r = -0.35, p < 0.05) women, and in PEs in Spanish (r = -0.67, p < 0.001) and German (r = -0.71, p < 0.001), but not in Hungarian (r = -0.02) women. Significant inverse correlations were seen between trans fatty acids and DHA in PEs at the 30th week of gestation (n = 241, r = -0.52, p < 0.001), at delivery (n = 241, r = -0.40, p < 0.001) and in cord lipids (n = 218, r = -0.28, p < 0.001). Conclusion: Because humans cannot synthesize trans isomeric fatty acids, the data obtained in the present study support the concept that high maternal trans isomeric fatty acid intake may interfere with the availability of LCPUFA both for the mother and the fetus. Copyright (C) 2011 S. Karger AG, Base
Review for the generalist: evaluation of anterior knee pain
Anterior knee pain is common in children and adolescents. Evaluation and management is challenging and requires a thorough history and physical exam, and understanding of the pediatric skeleton. This article will review common causes of chronic anterior knee pain in the pediatric population with a focus on patellofemoral pain
The Universal One-Loop Effective Action
We present the universal one-loop effective action for all operators of
dimension up to six obtained by integrating out massive, non-degenerate
multiplets. Our general expression may be applied to loops of heavy fermions or
bosons, and has been checked against partial results available in the
literature. The broad applicability of this approach simplifies one-loop
matching from an ultraviolet model to a lower-energy effective field theory
(EFT), a procedure which is now reduced to the evaluation of a combination of
matrices in our universal expression, without any loop integrals to evaluate.
We illustrate the relationship of our results to the Standard Model (SM) EFT,
using as an example the supersymmetric stop and sbottom squark Lagrangian and
extracting from our universal expression the Wilson coefficients of
dimension-six operators composed of SM fields.Comment: 30 pages, v2 contains additional comments and corrects typos, version
accepted for publication in JHE
Strain- and Adsorption-Dependent Electronic States and Transport or Localization in Graphene
The chapter generalizes results on influence of uniaxial strain and
adsorption on the electron states and charge transport or localization in
graphene with different configurations of imperfections (point defects):
resonant (neutral) adsorbed atoms either oxygen- or hydrogen-containing
molecules or functional groups, vacancies or substitutional atoms, charged
impurity atoms or molecules, and distortions. To observe electronic properties
of graphene-admolecules system, we applied electron paramagnetic resonance
technique in a broad temperature range for graphene oxides as a good basis for
understanding the electrotransport properties of other active carbons. Applied
technique allowed observation of possible metal-insulator transition and
sorption pumping effect as well as discussion of results in relation to the
granular metal model. The electronic and transport properties are calculated
within the framework of the tight-binding model along with the Kubo-Greenwood
quantum-mechanical formalism. Depending on electron density and type of the
sites, the conductivity for correlated and ordered adsorbates is found to be
enhanced in dozens of times as compared to the cases of their random
distribution. In case of the uniaxially strained graphene, the presence of
point defects counteracts against or contributes to the band-gap opening
according to their configurations. The band-gap behaviour is found to be
nonmonotonic with strain in case of a simultaneous action of defect ordering
and zigzag deformation. The amount of localized charge carriers (spins) is
found to be correlated with the content of adsorbed centres responsible for the
formation of potential barriers and, in turn, for the localization effects.
Physical and chemical states of graphene edges, especially at a uniaxial strain
along one of them, play a crucial role in electrical transport phenomena in
graphene-based materials.Comment: 16 pages, 10 figure
Painful rib hump: a new clinical sign for detecting intraspinal rib displacement in scoliosis due to neurofibromatosis
BACKGROUND: Spinal cord compression and associate neurological impairment is rare in patients with scoliosis and neurofibromatosis. Common reasons are vertebral subluxation, dislocation, angulation and tumorous lesions around the spinal canal. Only twelve cases of intraspinal rib dislocation have been reported in the literature. The aim of this report is to present a case of rib penetration through neural foramen at the apex of a scoliotic curve in neurofibromatosis and to introduce a new clinical sign for its detection. METHODS: A 13-year-old girl was evaluated for progressive left thoracic kyphoscoliotic curve due to a type I neurofibromatosis. Clinical examination revealed multiple large thoracic and abdominal "cafe-au-lait" spots, neurological impairment of the lower limbs and the presence of a thoracic gibbous that was painful to pressure at the level of the left eighth rib (Painful Rib Hump). CT-scan showed detachment and translocation of the cephalic end of the left eighth rib into the adjacent enlarged neural foramen. The M.R.I. examination of the spine showed neither cord abnormality nor neurogenic tumor. RESULTS: The patient underwent resection of the intraspinal mobile eighth rib head and posterior spinal instrumentation and was neurologically fully recovered six months postoperatively. CONCLUSION: Spine surgeons should be aware of intraspinal rib displacement in scoliotic curves in neurofibromatosis. Painful rib hump is a valuable diagnostic tool for this rare clinical entity
A randomised controlled trial of the effects of albendazole in pregnancy on maternal responses to mycobacterial antigens and infant responses to bacille Calmette-Guérin (BCG) immunisation [ISRCTN32849447]
BACKGROUND: Maternal schistosomiasis and filariasis have been shown to influence infant responses to neonatal bacille Calmette-Guérin (BCG) immunisation but the effects of maternal hookworm, and of de-worming in pregnancy, are unknown. METHODS: In Entebbe, Uganda, we conducted a randomised, double-blind, placebo-controlled trial of a single dose of 400 mg of albendazole in the second trimester of pregnancy. Neonates received BCG. Interferon-gamma (IFN-γ) and interleukin (IL)-5 responses to a mycobacterial antigen (crude culture filtrate proteins (CFP) of Mycobacterium tuberculosis) were measured in a whole blood assay. We analysed results for binary variables using χ(2 )tests and logistic regression. We analysed continuous variables using Wilcoxon's tests. RESULTS: Maternal hookworm was associated with reduced maternal IFN-γ responses to CFP (adjusted odds ratio for IFN-γ > median response: 0.14 (95% confidence interval 0.02–0.83, p = 0.021). Conversely, maternal hookworm was associated with subsequent increased IFN-γ responses in their one-year-old infants (adjusted OR 17.65 (1.20–258.66; p = 0.013)). Maternal albendazole tended to reduce these effects. CONCLUSION: Untreated hookworm infection in pregnancy was associated with reduced maternal IFN-γ responses to mycobacterial antigens, but increased responses in their infants one year after BCG immunisation. The mechanisms of these effects, and their implications for protective immunity remain, to be determined
On Horava-Lifshitz "Black Holes"
The most general spherically symmetric solution with zero shift is found in
the non-projectable Horava-Lifshitz class of theories with general coupling
constants. It contains as special cases, spherically symmetric solutions found
by other authors earlier. It is found that the generic solution has
conventional (AdS, dS or flat) asymptotics with a universal 1/r tail. There are
several special cases where the asymptotics differ, including the detailed
balance choice of couplings. The conventional thermodynamics of this general
class of solutions is established by calculating the energy, temperature and
entropy. Although several of the solutions have conventional horizons, for
particles with ultra-luminal dispersion relations such solutions appear to be
horizonless.Comment: Latex 41 pages, 5 figure
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