101,885 research outputs found
Different outcome in isovaleric acidemia might be related to unsatisfactory diet compliance
No full textThe issue of diet compliance in isovaleric acidemia is widely debated in this report
Linear atrophoderma of Moulin
No full textFirstly described by Moulin et al. in 1992 in 5 patients
[1], LAM is a distinct clinical entity characterized by
acquired atrophic bandlike skin lesions that often show
hyperpigmentation and always follow the lines of Blaschko.
No preceding infl ammation is noted, but a transient
infl ammatory stage is perhaps often unrecognized, and
there is no induration or scleroderma. Usually the condition
begins in childhood or adolescence, and there is
no evidence of any long-term progression. Histopathologically,
an irregular moderate hyperpigmentation of the
lower part of the epidermis is found, along with a few
perivascular lymphocytes in the dermis and slight thickening
of the collagen bundles, as in our case [2]. The
existence of LAM is controversial in its possible clinical
overlap with linear scleroderma or morphea. Nevertheless,
this latter is characterized by one or more linear
streaks of progressive induration that can extend through
the dermis, subcutaneous tissue, and muscle to the underlying
bone, causing signifi cant deformities [3]. The
lack of autoantibodies, such as ANA, found in 73% of
adult patients with linear scleroderma and the chronic and
unvaried course make this diagnosis unlikely in our patient,
leading to the more compatible diagnosis of LAM
[4]. The cause and pathogenesis of this disorder remain unclea
Ausgedehnte, unregelmäßige Mongolenflecken als Hinweis auf GM1‐Gangliosidose Typ 1
No full textBei Vorliegen unregelmäßiger Mongolenflecken bei Kleinkindern, insbesondere, wenn sie mit Hypotonie, Organomegalie oder kirschroten Makula einhergehen, sollte unverzüglich nach schweren zugrunde liegenden Störungen wie lysosomale Enzymopathien gesucht werden
Bibliographie Hilarion G. Petzold 1958 – 2009 mit Anhang als Einführung
No full textDieses Archiv enthält die Gesamtbibliographie der Werke des Autors nebst einiger Texte „Über H. G. Petzold“ im Schlussteil der Bibliographie sowie einen Anhang mit einer Einführung in die Architektur des Werkes in seinem wissenslogischen Aufbau als Ausarbeitung seines „Tree of Science Modells“ (2007).This archive contains the complete bibliography of the author and some texts about H. G. Petzold, moreover an epilogue with an introduction to the architecture of the works in its epistemological structure and composition and as an elaborations of Petzold’s „Tree of Science Modell (2007).https://www.fpi-publikation.de/polyloge/01-2009-petzold-h-g-gesamtbibliographie-h-g-petzold-1958-2009-updating-november2009/peerReviewedpublishedVersio
Dispelling the Myths Behind First-author Citation Counts
No full textWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
Fabry disease in internal medicine: the role of fever and hyperthermia in diagnosis
No full textFabry disease starts as fever of unknown origin (FUO) in almost 20% of
cases. Inflammation parameters are usually variable. Abnormalities in thermal
autoregulation can be true when fever is associated with acroparesthesia and paroxysmal
abdominal pain. Otherwise, in the presence of signs and
symptoms of chronic inflammation, cytokine secretion and activation is probably due to
endothelial and macrophage Gb3 lysosomal storage; proteinuria (less than 1
g/24 hours) and vascular damage are often present, especially in those patients developing
chronic kidney disease and/or cerebrovascular ischemic disease. Diagnosis of Fabry
disease can be simplified by investigating patient's clinical history regarding the
presence of angiokeratomas, cornea verticillata, deafness and/or cardiomyopathy
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3346: Samuel G. Freedman, author, 2013
No full textPhotograph of author Samuel G. Freedman, at NT Daily Slash meeting in the Mayborn School of Journalism at UNT
Splenomegaly as a primary manifestation of Gaucher disease in a young adult woman
No full textGaucher disease is the most common lysosomal storage disease. It is caused by the defective activity of acid β-glucosidase, which results in the accumulation of lipid glucocerebroside in macrophages throughout the body. In this case report we describe the case of a young adult woman with splenomegaly as the primary manifestation of this pathology. This is a case of type 1 Gaucher disease because there is a lack of primary neurological involvement but we have, instead, an age-independent involvement of the visceral organs. It is very important to classify or characterize these patients in a precise manner and to make a complete diagnosis with the help of the many diagnostic resources now at our disposal, especially with genetics, radiology and new techniques of advanced microscopy, also because Gaucher disease requires a long and complex management from early life to adulthood
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