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Bruno Corrado, Gianluca Ciardi
[Purpose] The purpose of this review was to critically evaluate the literature concerning the physiotherapy of facioscapulohumeral dystrophy, and to determine an effective protocol for physiotherapy treatments, which can be adapted to patient characteristics. [Methods] A bibliographic research was carried out of research papers held in the following databases: PUBMED, PEDRO, MEDLINE, EDS BASE INDEX. The inclusion criteria for acceptance of the studies to the review were randomized controlled trials (RCTs) concerning a sample no smaller than 10 people and a medium- or long-term report of the results achieved...
July 2015: Journal of Physical Therapy Science
Vincenzo Russo, Anna Rago, Federica DI Meo, Nadia Della Cioppa, Andrea Antonio Papa, Maria Giovanna Russo, Gerardo Nigro
The occurrence of ventricular fibrillation, induced by bipolar electrocautery during elective dual chamber pacemaker implantation, is reported in a patient affected by Myotonic Distrophy type 1 with normal left ventricular ejection fraction.
December 2014: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
Nuran Alli, Sibel Dogan
Elkonyxis and median nail distrophy are very rare nail fold disorders due to the damage in nail matrix and proximal nail fold. Herein, we report a patient with both elkonyxis and median nail distrophy occured two months into a treatment course of isotretinoin that is to our knowledge for the first time.
March 2016: Cutaneous and Ocular Toxicology
Mariella Valenzise, Luca Alessi, Enrico Bruno, Valeria Cama, Daria Costanzo, Cristina Genovese, Cristina Mignosa, Veronica Scuderi, Filippo DE Luca
Autoimmune polyendocrinopathy-candidiasis-ectodermal-distrophy (APECED) is a rare autosomal recessive disease, which is mainly characterized by the association of many autoimmune diseases, with a classic triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years and other non-classic components have been recently described. Aim of this review was to alert pediatricians to these novel clinical aspects of this syndrome, that have been recently included among the autoimmune APECED manifestations: a) chronic lung disease, that may evolve to cor pulmonale and terminal respiratory failure; b) chronic inflammatory demyelinating polineuropathy, with progressive muscular weakness of both arms and legs and sensory loss; c) gastrointestinal dysfunction, with recurrent diarrhea, malabsorption and steatorrhea or chronic constipation...
June 2016: Minerva Pediatrica
I K Lutskaia, O G Zinovenko, I A Shved
Pathomorphological changes in dentine covered with artificial crown were studied in 40 decalcified teeth extracted from patients aged 35-61 years. The study of the decayed dentin microscopic structure revealed the uniform mineralization of dentinal tubules in 20% of cases, while in the absence of visually apparent caries it was present in 80% of cases. Irregular dentin structure was seen in 45% of caries cases and in 30% of observations with no signs of caries. Predentine distrophy and odontoblasts elimination in the decayed teeth was found in 55% of the observations while in the absence of caries lesions these features were seen in 70% of cases...
2014: Stomatologii︠a︡
Juan Barja, Francisca Piñeyro, Manuel Almagro, Felipe Sacristán, Romina Rodríguez-Lojo, Beatriz Fernández-Jorge, Sonia Ruanova, Jesus García-Silva
Alopecia and nail distrophy are rare signs of systemic amyloidosis. We present a case with both manifestations and give a brief review of the cutaneous signs of this disease. A biopsy of affected or unaffected skin may provide the diagnosis.
January 2013: Dermatology Online Journal
Yelda Ozkurt, Mehmet Atakan, Tugba Gencaga, Sezen Akkaya
Keratoconus is the most common corneal distrophy. It's a noninflammatory progressive thinning process that leads to conical ectasia of the cornea, causing high myopia and astigmatism. Many treatment choices include spectacle correction and contact lens wear, collagen cross linking, intracorneal ring segments implantation and finally keratoplasty. Contact lenses are commonly used to reduce astigmatism and increase vision. There are various types of lenses are available. We reviewed soft contact lenses, rigid gas permeable contact lenses, piggyback contact lenses, hybrid contact lenses and scleral-semiscleral contact lenses in keratoconus management...
2012: Journal of Ophthalmology
Mamiko Yukihara, Kaori Ito, Osamu Tanoue, Koichi Goto, Taku Matsushita, Yoko Matsumoto, Masako Masuda, Shigemi Kimura, Ryuichi Ueoka
It is known that gentamicin (GM) could be a possible treatment for Duchenne Muscular Dystrophy (DMD). However, GM therapy has been hindered by several problems such as severe side effects of GM. In order to resolve these problems, we developed the drug delivery system (DDS) of GM using hybrid liposomes (HL) composed of L-α-dimyristoylphosphatidylcholine (DMPC) and polyoxyethylene(23) lauryl ether (C₁₂(EO)₂₃). The hydrodynamic diameters of HL including GM (GM-HL) were 60-90 nm with a narrow range of the size distribution and the sizes were kept almost constant for over 4 weeks, suggesting that GM-HL could avoid the reticuloendothelial system in vivo...
2011: Biological & Pharmaceutical Bulletin
D Capalbo, C Mazza, R Giordano, N Improda, E Arvat, S Cervato, L Morlin, C Pignata, C Betterle, M Salerno
BACKGROUND: Autoimmune-polyendocrinopathy-candidiasis- ectodermal-distrophy (APECED) is a recessive disease, caused by mutations in the AutoImmune REgulator (AIRE) gene. Different mutations are peculiar of particular populations. In Italy, 3 hot spots areas where APECED shows an increased prevalence, have been identified in Sardinia, Apulia, and in the Venetian region. AIM: In this study, we analyzed AIRE mutations and genotype-phenotype correlation in APECED patients originating from Campania and in their relatives...
February 2012: Journal of Endocrinological Investigation
H Abplanalp, A A Benedict
Blood serum levels of 7S Ig appear to be a highly heritable (h(2)=0.76) trait. A possibly weak association of high 7S Ig with the phenotype of inherited muscular dystrophy is noted. In contrast to a previous study (Sanders and Kline 1977), our survey of 4 comparisons in paired lines showed dystrophics with slightly elevated 7S Ig levels and no differences in IgM levels when compared to controls.
December 1978: Immunogenetics
Marko Munih, Ales Bardorfer, Bojan Ceru, Tadej Bajd, Anton Zupan
An objective test for evaluating functional status of the upper limbs (ULs) in patients with muscular distrophy (MD) is presented. The method allows for quantitative assessment of the UL functional state with an emphasis on force exertion capacity. The experimental measurement setup and the methodology for the assessment of maximal exertable force utilizing the Phantom 1.5 haptic interface has been developed. The measurement setup consists of a powerful virtual reality simulator, capable of providing haptic, visual and audio feedback...
March 2010: International Journal of Rehabilitation Research. Revue Internationale de Recherches de Réadaptation
Toshihiro Yoshino, Masahiro Kanazawa, Toshiyasu Suzuki
We encountered a 53-year-old woman with myotonic dystrophy for a total abdominal hysterectomy. In patients with myotonic dystrophy, hypersensitivity to anesthetic drugs, especially muscle relaxants and opioids, may complicate postoperative management. Combined spinal and epidural block was used in this patient to prevent the occurrence of potential postoperative complications associated with general anesthesia, including respiratory depression. In addition, dexmedetomidine was used for sedation during surgery, because the patient had mental retardation associated with this disease...
August 2009: Masui. the Japanese Journal of Anesthesiology
A Sampedro, J J Barbón, J A Alvarez, M A Andrés, C Baldó
CASE REPORT: We described the follow up of a patient with diabetes mellitus type 2 who had a macular pattern dystrophy and bilateral neurosensory hearing loss. Electrophysiological studies revealed abnormal pattern electroretinography and impaired electro-oculogram responses. DISCUSSION: Maternally Inherited Diabetes, neurosensory Deafness and generally macular pattern distrophy (MIDD syndrome), is a rare mitochondrial disease, responsible for approximately 0.5 to 2...
July 2009: Archivos de la Sociedad Española de Oftalmología
David Leonardo Cruvinel Isaac, Gustavo Henrique Medeiros Queiroz, Caroline Campelo Feres, Marcos Avila
Presentation of a case of crystalline macular distrophy diagnosed in a female patient with Sjögren-Larsson syndrome. The disease consists of clinical findings of spastic diplegia or tetraplegia, mental retardation, and congential ichthyosis. The eyes are affected in up to 100% of cases, and crystalline maculopathy is the main finding as described in this case report. On fundus examination multiple white dots were observed at ophthalmoscopy. The optical coherence tomography has shown not only the hipereflexive intraretinal spots but also macular atrophy with macular thickness reduction...
March 2009: Arquivos Brasileiros de Oftalmologia
Arturo Zárate, Renata Saucedo
A century has passed since Harvey Cushing presented a syndrome characterized by obesity and sexual infantilism, caused by a tumour located in the base of the brain, and named it as Adiposogenital dystrophy or Frohlich's syndrome, on the name of its discoverer. Further study of this syndrome contributed to establish the hormonal connection between the brain and the anterior pituitary, and then the concept of neuroendocrinology.
July 2007: Gaceta Médica de México
No abstract text is available yet for this article.
April 8, 1951: Lyon Médical
The morphogenesis of the visual cells in the retina of DBA normal mice and in C3H mice having a genetic distrophy has been studied with the electron microscope. The stages of development previously described (3) have been confirmed. Two basal centrioles have been observed and an asymmetrical process of invagination of the surface membrane is recognized as the main source of the rod sacs in the outer segment. In the C3H mice the differentiation of the photoreceptors starts and reaches a certain stage but very early some alterations in the morphogenesis are observed...
July 1960: Journal of Biophysical and Biochemical Cytology
No abstract text is available yet for this article.
1962: Medicina Experimentalis. International Journal of Experimental Medicine
No abstract text is available yet for this article.
1952: Acta Physiologica Academiae Scientiarum Hungaricae
G A Poliakova, T V Bezuglova, A R Garagezova
67 renal biopsies obtained in the course of adrenalectomy from patients with primary hyperaldosteronism, hypercorticism and pheochromocytoma were studied. Sclerotic affection of the arterioles and renal interstitium were found in long lasting adrenal arterial hypertension. This may cause residual postoperative hypertension. Endocrine nephropathy in primary hyperaldosteronism due to hypopotassemia and alcalosis manifests with vacuolar distrophy and atrophy of the epithelium, dilatation of tubular lumen, intratubular calcinosis and tubulointerstitial nephritis...
July 2002: Arkhiv Patologii
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