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https://www.readbyqxmd.com/read/28300889/elastoma-clinical-and-histopathological-aspects-of-a-rare-disease
#1
Marina Gagheggi Maciel, Milvia Maria Simões E Silva Enokihara, Maria Bandeira de Melo Paiva Seize, Aline Pantano Marcassi, Christiane Affonso De Donato Piazza, Silmara da Costa Pereira Cestari
Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated with osteopoikilosis, it is known as Buschke-Ollendorff syndrome. Histopathology with specific staining for elastic fibers is critical for a diagnostic conclusion. This report describes the case of a 7-year-old male patient with lesions diagnosed as elastoma, with absence of bone changes in the radiological imaging. This study aims to report the clinical presentation and histological examination of such unusual disease...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28300773/the-low-fodmap-diet-many-question-marks-for-a-catchy-acronym
#2
REVIEW
Giulia Catassi, Elena Lionetti, Simona Gatti, Carlo Catassi
FODMAP, "Fermentable Oligo-, Di- and Mono-saccharides And Polyols", is a heterogeneous group of highly fermentable but poorly absorbed short-chain carbohydrates and polyols. Dietary FODMAPs might exacerbate intestinal symptoms by increasing small intestinal water volume, colonic gas production, and intestinal motility. In recent years the low-FODMAP diet for treatment of irritable bowel syndrome (IBS) has gained increasing popularity. In the present review we aim to summarize the physiological, clinical, and nutritional issues, suggesting caution in the prolonged use of this dietary treatment on the basis of the existing literature...
March 16, 2017: Nutrients
https://www.readbyqxmd.com/read/28298869/pigment-dispersion-syndrome-associated-with-spontaneous-subluxation-of-crystalline-lens
#3
Vikas Veerwal, Jawahar Lal Goyal, Parul Jain, Ritu Arora
Pigment dispersion syndrome (PDS) is an ocular condition characterized by a dispersion of iris pigment throughout the eye. This pigment is deposited in a characteristic manner on the corneal endothelium as Krukenberg's spindle, anterior surface of the iris, in the trabecular meshwork, on the lens and zonule and occasionally on the anterior hyaloid face. Even with deposition of pigment on zonular fibers, no zonular weakness, or zonular dehiscence has been reported in these cases. We report a unique case of PDS with bilateral spontaneous subluxation of crystalline lens...
January 2017: Oman Journal of Ophthalmology
https://www.readbyqxmd.com/read/28288584/adipose-tissue-fibrosis-in-human-cancer-cachexia-the-role-of-tgf%C3%AE-pathway
#4
Michele Joana Alves, Raquel Galvão Figuerêdo, Flavia Figueiredo Azevedo, Diego Alexandre Cavallaro, Nelson Inácio Pinto Neto, Joanna Darck Carola Lima, Emidio Matos-Neto, Katrin Radloff, Daniela Mendes Riccardi, Rodolfo Gonzalez Camargo, Paulo Sérgio Martins De Alcântara, José Pinhata Otoch, Miguel Luiz Batista Junior, Marília Seelaender
BACKGROUND: Cancer cachexia is a multifactorial syndrome that dramatically decreases survival. Loss of white adipose tissue (WAT) is one of the key characteristics of cachexia. WAT wasting is paralleled by microarchitectural remodeling in cachectic cancer patients. Fibrosis results from uncontrolled ECM synthesis, a process in which, transforming growth factor-beta (TGFβ) plays a pivotal role. So far, the mechanisms involved in adipose tissue (AT) re-arrangement, and the role of TGFβ in inducing AT remodeling in weight-losing cancer patients are poorly understood...
March 14, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28275592/model-of-human-fetal-growth-in-hypoplastic-left-heart-syndrome-reduced-ventricular-growth-due-to-decreased-ventricular-filling-and-altered-shape
#5
Sukriti Dewan, Adarsh Krishnamurthy, Devleena Kole, Giulia Conca, Roy Kerckhoffs, Michael D Puchalski, Jeffrey H Omens, Heather Sun, Vishal Nigam, Andrew D McCulloch
INTRODUCTION: Hypoplastic left heart syndrome (HLHS) is a congenital condition with an underdeveloped left ventricle (LV) that provides inadequate systemic blood flow postnatally. The development of HLHS is postulated to be due to altered biomechanical stimuli during gestation. Predicting LV size at birth using mid-gestation fetal echocardiography is a clinical challenge critical to prognostic counseling. HYPOTHESIS: We hypothesized that decreased ventricular filling in utero due to mitral stenosis may reduce LV growth in the fetal heart via mechanical growth signaling...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28270361/morphological-and-immunohistochemical-comparison-of-intrapancreatic-nerves-between-chronic-pancreatitis-and-type-1-autoimmune-pancreatitis
#6
Kota Kato, Tsukasa Ikeura, Masato Yanagawa, Takashi Tomiyama, Toshiro Fukui, Kazushige Uchida, Makoto Takaoka, Akiyoshi Nishio, Yoshiko Uemura, Sohei Satoi, Hisao Yamada, Kazuichi Okazaki
OBJECTIVES: The abdominal pain associated with chronic pancreatitis (CP) may be related to the increased number and size of intrapancreatic nerves. On the other hand, patients with type 1 autoimmune pancreatitis (AIP) rarely suffer from the pain syndrome, and there are no previous studies concerning the histopathological findings of intrapancreatic nerves in patients with type 1 AIP. The current study is aimed at investigating the differences in the histopathological and immunohistochemical findings of intrapancreatic nerves in patients with CP and type 1 AIP...
February 20, 2017: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
https://www.readbyqxmd.com/read/28264935/stat3-promotes-ifn%C3%AE-tnf%C3%AE-induced-muscle-wasting-in-an-nf-%C3%AE%C2%BAb-dependent-and-il-6-independent-manner
#7
Jennifer F Ma, Brenda J Sanchez, Derek T Hall, Anne-Marie K Tremblay, Sergio Di Marco, Imed-Eddine Gallouzi
Cachexia is a debilitating syndrome characterized by involuntary muscle wasting that is triggered at the late stage of many cancers. While the multifactorial nature of this syndrome and the implication of cytokines such as IL-6, IFNγ, and TNFα is well established, we still do not know how various effector pathways collaborate together to trigger muscle atrophy. Here, we show that IFNγ/TNFα promotes the phosphorylation of STAT3 on Y705 residue in the cytoplasm of muscle fibers by activating JAK kinases. Unexpectedly, this effect occurs both in vitro and in vivo independently of IL-6, which is considered as one of the main triggers of STAT3-mediated muscle wasting...
March 6, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28261938/mast-cell-disorders-in-ehlers-danlos-syndrome
#8
REVIEW
Suranjith L Seneviratne, Anne Maitland, Lawrence Afrin
Well known for their role in allergic disorders, mast cells (MCs) play a key role in homeostatic mechanisms and surveillance, recognizing and responding to different pathogens, and tissue injury, with an array of chemical mediators. After being recruited to connective tissues, resident MCs progenitors undergo further differentiation, under the influence of signals from surrounding microenvironment. It is the differential tissue homing and local maturation factors which result in a diverse population of resident MC phenotypes...
March 6, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28255911/solitary-rectal-ulcer-syndrome-in-children-a-case-series-study
#9
K Kowalska-Duplaga, I Lazowska-Przeorek, K Karolewska-Bochenek, M Woynarowski, G Czaja-Bulsa, A Stawarski, S Pieczarkowski, E Hapyn, J Jozefczuk, B Korczowski, A Szaflarska-Poplawska, A Banaszkiewicz
Information on solitary rectal ulcer syndrome (SRUS) in children is limited and based on case reports only. This study was undertaken with the objective of describing the clinical history, symptoms, diagnostic work-up, and treatment of a large case series of pediatric patients with SRUS. The study was multi-center and retrospective. All pediatric endoscopists in Poland were invited to participate in the study and were asked to look through their endoscopic databases to identify SRUS cases from the last 10 years...
March 3, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28252600/-an-effect-of-ipidacrine-neuromidin-on-electroneuromyographic-parameters-in-the-conditions-of-artificial-decompression-a-clinical-instrumental-study
#10
E V Bahtereva, V A Shirokov, E L Leiderman, N L Terechov, A N Varaksin, V G Panov
AIM: To study an effect of neuromidin on the changes in electroneuromyographic (ENMG) parameters in patients with carpal tunnel syndrome in the conditions of artificial decompression of a forearm. MATERIAL AND METHODS: Sixty-four 64 patients, 46 women and 18 men, mean age 50,7±4,5years, matched for disease severity were studied. The patients were randomized into neuromidin group and control group. Neuromidin was introduced using subcutaneous local perineural injections...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28245992/overt-and-subclinical-baroreflex-dysfunction-following-bilateral-carotid-body-tumor-resection-pathophysiology-diagnosis-and-implications-for-management
#11
REVIEW
Michael G Z Ghali, Visish M Srinivasan, Ehab Hanna, Franco DeMonte
Carotid body paragangliomas are rare, usually benign, tumors arising from glomus cells of the carotid body. Bilateral involvement is present in ∼5% of sporadic cases and up to one-third of familial cases. In the majority of patients undergoing bilateral resection of carotid body tumors (CBTs), a condition known as baroreflex failure syndrome (BFS) develops following resection of the second tumor characterized by headache, anxiety, emotional lability, orthostatic lightheadedness, hypertension, and tachycardia...
February 25, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28244671/prebiotic-inulin-type-fructans-and-galacto-oligosaccharides-definition-specificity-function-and-application-in-gastrointestinal-disorders
#12
REVIEW
Bridgette Wilson, Kevin Whelan
Prebiotics are non-digestible selectively fermented dietary fibers that specifically promote the growth of one or more bacterial genera in the gastrointestinal tract and thus provide health benefit to the host. The two most investigated prebiotics being the inulin-type fructans and galacto-oligosaccharides. Prebiotic specificity is mediated through species-specific gene clusters within saccharolytic bacteria controlled by signaling sensors for various substrates. Prebiotic health benefits are attributed to immune regulation and bacterial metabolite production...
March 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28244666/when-the-low-fodmap-diet-does-not-work
#13
REVIEW
Emma P Halmos
Irritable bowel syndrome (IBS) is heterogeneous. Patients need proper assessment and explanation of IBS pathophysiology and appropriate therapies. A low FODMAP (fermentable oligosaccharides, disaccharides, monosaccharides, and polyols) diet effectively reduces symptoms in 75% of patients. Best treatment for those nonresponsive will depend on the pathophysiological basis for symptom genesis, with the following possible abnormalities: (i) Visceral hypersensitivity and/or enhanced gut-brain communication: a low FODMAP diet is mainly targeted for this patient group...
March 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28230737/role-of-fiber-in-symptomatic-uncomplicated-diverticular-disease-a-systematic-review
#14
REVIEW
Marilia Carabotti, Bruno Annibale, Carola Severi, Edith Lahner
Symptomatic uncomplicated diverticular disease (SUDD) is a syndrome characterized by recurrent abdominal symptoms in patients with colonic diverticula. There is some evidence that a high-fiber diet or supplemental fibers may reduce symptoms in SUDD patients and a high-fiber diet is commonly suggested for these patients. This systematic review aims to update the evidence on the efficacy of fiber treatment in SUDD, in terms of a reduction in symptoms and the prevention of acute diverticulitis. According to PRISMA, we identified studies on SUDD patients treated with fibers (PubMed and Scopus)...
February 20, 2017: Nutrients
https://www.readbyqxmd.com/read/28228619/a-case-of-anti-3-hydroxy-3-methylglutaryl-coenzyme-a-reductase-antibody-positive-paraneoplastic-necrotizing-myopathy-associated-with-advanced-gastric-cancer-that-responded-to-intravenous-immunoglobulin-therapy
#15
Tomohisa Yamaguchi, Akiko Matsunaga, Masamichi Ikawa, Norimichi Shirafuji, Ichizo Nishino, Tadanori Hamano
A 49-year-old woman presented with progressive muscle weakness of the limbs and dysphagia. Her past and family medical history were unremarkable and she did not take statins or any other medications. Laboratory tests showed that serum levels of creatine kinase were elevated (13,565 IU/l) and anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibodies were detected in the serum. Other autoantibodies to the nuclear (ANA), RNP, aminoacyl-tRNA synthetases (ARS), and signal recognition particle (SRP) were negative...
February 22, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#16
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28219317/dietary-fiber-gap-and-host-gut-microbiota
#17
Meng Han, Ping Liu, Defa Li, Yuan Li, Xi Ma
Accumulating evidence are dramatically increasing access to the facts that the gut microbiota plays a pivotal role in host metabolism and health, which revealed the possibility of a plethora of associations between gut bacteria and human diseases. Several functional roles carried out by a major class of host's diet, such as fiber. Fiber is the main source of microbiota-accessible carbohydrate in the diet of humans. In modern diet, it is difficult to intake dietary fiber as enough as recommended standard. The low-fiber diet in the modern life, known as fiber gap, can trigger to a substantial depletion of the human gut microbiota diversity and beneficial metabolites...
February 20, 2017: Protein and Peptide Letters
https://www.readbyqxmd.com/read/28206686/nte-pnpla6-is-expressed-in-mature-schwann-cells-and-is-required-for-glial-ensheathment-of-remak-fibers
#18
Janis McFerrin, Bruce L Patton, Elizabeth R Sunderhaus, Doris Kretzschmar
Neuropathy target esterase (NTE) or patatin-like phospholipase domain containing 6 (PNPLA6) was first linked with a neuropathy occurring after organophosphate poisoning and was later also found to cause complex syndromes when mutated, which can include mental retardation, spastic paraplegia, ataxia, and blindness. NTE/PNPLA6 is widely expressed in neurons but experiments with its Drosophila orthologue Swiss-cheese (SWS) suggested that it may also have glial functions. Investigating whether NTE/PNPLA6 is expressed in glia, we found that NTE/PNPLA6 is expressed by Schwann cells in the sciatic nerve of adult mice with the most prominent expression in nonmyelinating Schwann cells...
May 2017: Glia
https://www.readbyqxmd.com/read/28202702/congenital-myopathy-associated-with-the-triadin-knockout-syndrome
#19
Andrew G Engel, Keeley R Redhage, David J Tester, Michael J Ackerman, Duygu Selcen
OBJECTIVE: Triadin is a component of the calcium release complex of cardiac and skeletal muscle. Our objective was to analyze the skeletal muscle phenotype of the triadin knockout syndrome. METHODS: We performed clinical evaluation, analyzed morphologic features by light and electron microscopy, and immunolocalized triadin in skeletal muscle. RESULTS: A 6-year-old boy with lifelong muscle weakness had a triadin knockout syndrome caused by compound heterozygous null mutations in triadin...
March 21, 2017: Neurology
https://www.readbyqxmd.com/read/28188469/investigation-of-interaction-phenomena-between-crural-fascia-and-muscles-by-using-a-three-dimensional-numerical-model
#20
Piero G Pavan, Paola Pachera, Antonella Forestiero, Arturo N Natali
The focus of this work is the numerical modeling of the anterior compartment of the human leg with particular attention to crural fascia. Interaction phenomena between fascia and muscles are of clinical interest to explain some pathologies, as the compartment syndrome. A first step to enhance knowledge on this topic consists in the investigation of fascia biomechanical role and its interaction with muscles in physiological conditions. A three-dimensional finite element model of the anterior compartment is developed based on anatomical data, detailing the structural conformation of crural fascia, composed of three layers, and modeling the muscles as a unique structure...
February 10, 2017: Medical & Biological Engineering & Computing
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