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https://www.readbyqxmd.com/read/28543989/brain-structural-alterations-in-obese-children-with-and-without-prader-willi-syndrome
#1
Mingze Xu, Yi Zhang, Karen M von Deneen, Huaiqiu Zhu, Jia-Hong Gao
Prader-Willi syndrome (PWS) is a genetic imprinting disorder that is mainly characterized by hyperphagia and childhood obesity. Previous neuroimaging studies revealed that there is a significant difference in brain activation patterns between obese children with and without PWS. However, whether there are differences in the brain structure of obese children with and without PWS remains elusive. In the current study, we used T1-weighted and diffusion tensor magnetic resonance imaging to investigate alterations in the brain structure, such as the cortical volume and white matter integrity, in relation to this eating disorder in 12 children with PWS, 18 obese children without PWS (OB) and 18 healthy controls...
May 23, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28541157/isolated-medial-longitudinal-fasciculus-syndrome-review-of-imaging-anatomy-pathophysiology-and-differential-diagnosis
#2
Puneet S Kochar, Yogesh Kumar, Pranav Sharma, Vikash Kumar, Nishant Gupta, Pradeep Goyal
Isolated medial longitudinal fasciculus (MLF) syndrome due to infarction limited only to the midbrain is a rare occurrence. The MLF are a group of fiber tracts located in the paramedian area of the midbrain and pons. They control horizontal eye movements by interconnecting oculomotor and abducens nuclei in the brain stem. Such small infarcts can easily be overlooked by young neuroradiologists and trainees. In this review, we discuss the clinical and imaging characteristics, comprehensive review of the anatomy, pathophysiology, and differential diagnosis...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28536638/abcc6-knockdown-in-hepg2-cells-induces-a-senescent-like-cell-phenotype
#3
Rocchina Miglionico, Angela Ostuni, Maria Francesca Armentano, Luigi Milella, Elvira Crescenzi, Monica Carmosino, Faustino Bisaccia
BACKGROUND: Pseudoxanthoma elasticum (PXE) is characterized by progressive ectopic mineralization of elastic fibers in dermal, ocular and vascular tissues. No effective treatment exists. It is caused by inactivating mutations in the gene encoding for the ATP-binding cassette, sub-family C member 6 transporter (ABCC6), which is mainly expressed in the liver. The ABCC6 substrate (s) and the PXE pathomechanism remain unknown. Recent studies have shown that overexpression of ABCC6 in HEK293 cells results in efflux of ATP, which is rapidly converted into nucleoside monophosphates and pyrophosphate (PPi)...
2017: Cellular & Molecular Biology Letters
https://www.readbyqxmd.com/read/28533131/don-t-get-off-the-track
#4
Rod Foroozan, Andrew G Lee
A 43 year-old man noted decreased vision after head trauma, with normal neuroimaging acutely. He had a left homonymous hemianopia, confirmed with hemifield visual evoked potentials, from trauma to the right optic tract. Four months after trauma an MRI of the brain showed atrophy of the right optic tract, and funduscopy revealed optic disc pallor with decreased retinal nerve fiber layer measures consistent with an optic tract syndrome.
May 19, 2017: Survey of Ophthalmology
https://www.readbyqxmd.com/read/28528377/correlation-between-corneal-innervation-and-inflammation-evaluated-with-confocal-microscopy-and-symptomatology-in-patients-with-dry-eye-syndromes-a-preliminary-study
#5
Tudor C Tepelus, Gloria B Chiu, Jianyan Huang, Ping Huang, SriniVas R Sadda, John Irvine, Olivia L Lee
PURPOSE: To evaluate corneal innervation and inflammatory cell infiltration using in vivo confocal microscopy (IVCM) and to correlate these findings with subjective symptoms of dry eye, as measured by the Ocular Surface Disease Index (OSDI) in patients with non-Sjögren's (NSDE) and Sjögren's syndrome dry eyes (SSDE). METHODS: Central corneal images were prospectively captured from 10 age-matched healthy control eyes, 24 eyes with clinically diagnosed NSDE and 44 eyes with clinically diagnosed SSDE, using IVCM (HRT III RCM)...
May 20, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28521807/case-report-a-novel-frameshift-mutation-in-the-mitochondrial-cytochrome-c-oxidase-ii-gene-causing-mitochondrial-disorder
#6
Laura Kytövuori, Mikko Kärppä, Hannu Tuominen, Johanna Uusimaa, Markku Saari, Reetta Hinttala, Kari Majamaa
BACKGROUND: Mitochondrial cytochrome c oxidase 2, MT-CO2, encodes one of the three subunits, which form the catalytic core of cytochrome c oxidase (COX), complex IV. Mutations in MT-CO2 are rare and the associated phenotypes are variable including nonsyndromic and syndromic forms of mitochondrial diseases. CASE PRESENTATION: We describe a 30-year-old man with cognitive decline, epilepsy, psychosis, exercise intolerance, sensorineural hearing impairment, retinitis pigmentosa, cataract and lactic acidosis...
May 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28521679/diet-after-cholecystectomy
#7
Donato F Altomare, Maria T Rotelli, Nicola Palasciano
Patients with gallstones are often affected by alimentary disorders contributing to the onset of gallstones disease. Cholecystectomy can have nutritional and metabolic consequences in the short-term (diarrhea, abdominal pain and bloating) and in the long-term (increased Body Mass Index with metabolic syndrome, gastritis, liposoluble vitamin deficiency). Pathogenic mechanisms behind these disturbances are reviewed and the need for an early post-operative nutritional intervention based on low-lipid, high-fibers diet, is highlighted...
May 17, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28514403/-chronic-constipation-in-the-practice-of-a-therapist-features-of-therapy-for-comorbidity
#8
A A Svistunov, M A Osadchuk, L I Butorova, G M Tokmulina
AIM: To evaluate the clinical efficacy of laxatives with different pharmacological effects in the combination therapy in patients with chronic constipation (CC) concurrent with obesity, hypertensive disease, and type 2 diabetes mellitus (DM). SUBJECTS AND METHODS: A total of 110 people (45 men, 65 women) aged 45 to 72 years with CC in the presence of concomitant diseases: grade 1 or 2 hypertensive disease + obesity + type 2 DM. The investigators determined the severity of abdominal pain syndrome and flatulence, by indicating the mean frequency of defecations per week and fecal consistency according to the Bristol stool scale; anthropometric parameters; serum biochemistry tests; and serum lipoprotein phenotyping...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28508970/glomerulopathy-with-distinctive-fibrillar-deposits-but-lacking-glomerular-deposition-of-type-iii-collagen
#9
Tatsuo Yamamoto, Akashi Togawa, Masanobu Eguchi, Naro Ohashi, Hideo Yasuda, Yutaka Harita, Motoshi Hattori, Yutaka Yamaguchi, Kunio Ohyama
A 62-year-old woman with nephrotic syndrome underwent a renal biopsy. Under light microscopy, the biopsy findings included lobulation and enlargement of glomeruli, occasional thickening of glomerular capillary walls, and narrowing of the capillary lumen by swollen endothelial cells. Congo red staining was negative for amyloid. No significant intraglomerular fibrin deposition was found by phosphotungstic acid hematoxylin staining. Immunofluorescence microscopy showed no deposition of immunoglobulin G, A, or M; no κ or λ light chains; and no C3 or C1q...
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28507101/human-myosin-viia-is-a-very-slow-processive-motor-protein-on-various-cellular-actin-structures
#10
Osamu Sato, Satoshi Komatsu, Tsuyoshi Sakai, Yoshikazu Tsukasaki, Ryosuke Tanaka, Takeomi Mizutani, Tomonobu M Watanabe, Reiko Ikebe, Mitsuo Ikebe
Human myosin VIIa (MYO7A) is an actin-linked motor protein associated with human Usher syndrome (USH) type 1B, which causes human congenital hearing and visual loss. While it has been thought that the role of human myosin VIIa is critical for USH1 protein tethering with actin and transportation along actin bundles in inner-ear hair cells, myosin VIIa's motor function remains unclear. Here, we studied the motor function of the tail-truncated human myosin VIIa dimer (HM7AΔTail/LZ) at the single-molecule level...
May 15, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28494576/diverticular-disease-an-update-on-pathogenesis-and-management
#11
REVIEW
Mona Rezapour, Saima Ali, Neil Stollman
Diverticular disease is one of the most common conditions in the Western world and one of the most common findings identified at colonoscopy. Recently, there has been a significant paradigm shift in our understanding of diverticular disease and its management. The pathogenesis of diverticular disease is thought to be multifactorial and include both environmental and genetic factors in addition to the historically accepted etiology of dietary fiber deficiency. Symptomatic uncomplicated diverticular disease (SUDD) is currently considered a type of chronic diverticulosis that is perhaps akin to irritable bowel syndrome...
May 12, 2017: Gut and Liver
https://www.readbyqxmd.com/read/28494010/calcification-in-dermal-fibroblasts-from-a-patient-with-ggcx-syndrome-accompanied-by-upregulation-of-osteogenic-molecules
#12
Yumi Okubo, Ritsuko Masuyama, Akira Iwanaga, Yuta Koike, Yutaka Kuwatsuka, Tomoo Ogi, Yosuke Yamamoto, Yuichiro Endo, Hiroshi Tamura, Atsushi Utani
Gamma-glutamyl carboxylase (GGCX) gene mutation causes GGCX syndrome (OMIM: 137167), which is characterized by pseudoxanthoma elasticum (PXE)-like symptoms and coagulation impairment. Here, we present a 55-year-old male with a novel homozygous deletion mutation, c.2,221delT, p.S741LfsX100, in the GGCX gene. Histopathological examination revealed calcium deposits in elastic fibers and vessel walls, and collagen accumulation in the mid-dermis. Studies of dermal fibroblasts from the patient (GGCX dermal fibroblasts) demonstrated that the mutated GGCX protein was larger, but its expression level and intracellular distribution were indistinguishable from those of the wild-type GGCX protein...
2017: PloS One
https://www.readbyqxmd.com/read/28493226/-etiology-and-pathophysiology-of-fibromyalgia-syndrome-updated-guidelines-2017-overview-of-systematic-review-articles-and-overview-of-studies-on-small-fiber-neuropathy-in-fms-subgroups
#13
N Üçeyler, M Burgmer, E Friedel, W Greiner, F Petzke, M Sarholz, M Schiltenwolf, A Winkelmann, C Sommer, W Häuser
BACKGROUND: The regular update of the guidelines on fibromyalgia syndrome, AWMF number 145/004, was planned for April 2017. METHODS: The guidelines were developed by 13 scientific societies and 2 patient self-help organizations coordinated by the German Pain Society. Working groups (n =8) with a total of 42 members were formed balanced with respect to gender, medical expertise, position in the medical or scientific hierarchy and potential conflicts of interest...
May 10, 2017: Der Schmerz
https://www.readbyqxmd.com/read/28492803/tropical-forages-morphoanatomy-of-plants-grown-in-areas-with-the-death-of-pasture-syndrome
#14
N G Ribeiro-Júnior, O S Fagundes, A S Benevenuti, O M Yamashita, A A B Rossi, M A C Carvalho, I V Silva
Roots and leaves of Panicum maximum Tanzânia, Mombaça and Massai; Urochloa brizantha Piatã, Marandu and Xaraés; Urochloa humidicola Llanero; Urochloa ruziziensis Ruzizienses; Urochloa hybrida Mulato II and Cynodon nlemfuensis Estrela-roxa were analyzed, seeking to identify characters for better adaptation to the environment that may interfere with digestibility of tissue from the point of view of the rumen in cattle. Were planted ten cultivars in a completely randomized blocks with three repetitions. Was collected vegetative material, which histological slides were prepared from middle third of the sections of roots and leaves...
May 4, 2017: Brazilian Journal of Biology, Revista Brasleira de Biologia
https://www.readbyqxmd.com/read/28488622/family-with-ehlers-danlos-syndrome-combined-classic-and-vascular-type-with-rare-presentation-of-progressive-myopathy-and-unusual-association-of-severe-facial-and-trigeminal-motor-weakness
#15
A Nalini, N Devaraddi, N Gayathri, Chandrajit Prasad, V Preethish-Kumar, K Polavarapu, S Shantanu
We report the clinical, radiological, biochemical, muscle histology, and electron microscopic features of two members of a family with combined Ehlers-Danlos syndrome (EDS) [classic and vascular type] and progressive myopathy as the primary manifestation. A 35-year old lady presented with severe gluteal and thigh muscle pain and easy fatigability for 5 years. She developed weakness and wasting of pelvic and pectoral girdles and thighs for 3 years and severe neck flexor and truncal weakness for 6 months. She had a history of recurrent jaw dislocation, easy bruising with hyperpigmentation, hyperextensibility of joints, translucent skin, and papyraceous scars...
May 2017: Neurology India
https://www.readbyqxmd.com/read/28480865/impact-of-food-enriched-with-dietary-fiber-on-patients-with-constipation-predominant-irritable-bowel-syndrome
#16
G Sulaberidze, M Okujava, K Liluashvili, M Tughushi, M Abramashvili
The causes of motility disorder of gastrointestinal tract and in particular Irritable Bowel Syndrome IBS are multifold, leading to complexity of treatment and requirement of more precise investigation of different pharmacological and non-pharmacological approaches. The aim of the study was investigation and comparison of the dietary fiber intake among women with constipation-predominant irritable bowel syndrome (IBS-C) and without, improvement of the dietary fiber intake using interventions with less rough changes of food related behavior and study of its effects on the bowel function, general wellbeing and compliance of patients...
March 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28479486/integrated-diagnosis-project-for-inflammatory-myopathies-an-association-between-autoantibodies-and-muscle-pathology
#17
REVIEW
Shigeaki Suzuki, Akinori Uruha, Norihiro Suzuki, Ichizo Nishino
Inflammatory myopathies are a heterogeneous group of immune-mediated diseases that involve skeletal muscle as well as many other organs. The classification of inflammatory myopathies has been based on clinical diagnoses, pathological diagnoses, and autoantibodies, independently. The clinical phenotypes of inflammatory myopathies are characterized by various autoantibodies that are originally detected by RNA or protein immunoprecipitation. However, since the correlation between histological features and autoantibodies had not been fully elucidated, we created the "Integrated Diagnosis Project for Inflammatory Myopathies" in October 2010...
May 4, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28461274/complete-removal-of-the-epitrochleoanconeus-muscles-in-patients-with-cubital-tunnel-syndrome-results-from-a-small-prospective-case-series
#18
Godard C W de Ruiter, Sjoerd G van Duinen
BACKGROUND: Sometimes during surgery for cubital syndrome an anomalous muscle called the epitrochleoanconeus is encountered. Different surgical strategies how to decompress the ulnar nerve in the presence of this muscle have been proposed, including transection of the muscle, resection, or subcutaneous transposition of the ulnar nerve. Because of the low incidence, there is no consensus on what type of surgical treatment can best be performed. In this study, we prospectively followed a small series of patients, in which the muscle was resected...
April 28, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28459979/ocular-congenital-cranial-dysinnervation-disorders-ccdds-insights-into-axon-growth-and-guidance
#19
Mary C Whitman, Elizabeth C Engle
Unraveling the genetics of the paralytic strabismus syndromes known as congenital cranial dysinnervation disorders (CCDDs) is both informing physicians and their patients and broadening our understanding of development of the ocular motor system. Genetic mutations underlying ocular CCDDs alter either motor neuron specification or motor nerve development, and highlight the importance of modulations of cell signaling, cytoskeletal transport, and microtubule dynamics for axon growth and guidance. Here we review recent advances in our understanding of two CCDDs, congenital fibrosis of the extraocular muscles (CFEOM) and Duane retraction syndrome (DRS), and discuss what they have taught us about mechanisms of axon guidance and selective vulnerability...
April 28, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28450942/immunohistochemical-analysis-of-microsomal-glutathione-s-transferase-1-and-clusterin-expression-in-lens-epithelial-cells-of-patients-with-pseudoexfoliation-syndrome
#20
Joanna Stafiej, Marta Hałas-Wiśniewska, Magdalena Izdebska, Maciej Gagat, Dariusz Grzanka, Alina Grzanka, Grażyna Malukiewicz
Pseudoexfoliation syndrome (PEX) is an age-associated, sight disorder affecting elastic fibers in the eye and visceral organs but its exact etiology remains unknown. The purpose of the current study was to determine the morphology and ultrastructure of lens epithelial cells (LECs), and to use immunohistochemistry to examine localization of microsomal glutathione S-transferase 1 (MGST1) and clusterin. Anterior lens capsules were obtained from 24 patients (13 PEX and 11 controls) who underwent phacoemulsification...
March 2017: Experimental and Therapeutic Medicine
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