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Connective tissue disorder

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https://www.readbyqxmd.com/read/29226593/the-face-in-marfan-syndrome-a-3d-quantitative-approach-for-a-better-definition-of-dysmorphic-features
#1
Claudia Dolci, Valentina Pucciarelli, Daniele M Gibelli, Marina Codari, Susan Marelli, Giuliana Trifirò, Alessandro Pini, Chiarella Sforza
INTRODUCTION: Marfan syndrome (MFS) is a rare hereditable disorder of connective tissue caused by mutations in the fibrillin-1 gene FBN1. Timely diagnosis of MFS is essential to prevent life-threatening cardiovascular complications; nevertheless it can be difficult owing to the phenotypic variability of the syndrome. No clear quantitative definition of facial abnormalities associated with MFS is available. The aim of this study was to improve the definition of the facial phenotype associated with MFS and to verify the usefulness of a 3D noninvasive quantitative approach for its early recognition...
December 11, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/29225276/mitral-regurgitation-and-heart-failure-as-the-first-presentation-in-a-patient-with-features-of-two-connective-tissue-disorders-a-rare-combination-of-mucopolysaccharidosis-and-osteogenesis-imperfecta
#2
Yasuhiro Hamatani, Junko Nakashima, Keiko Ohta-Ogo, Makoto Amaki, Masashi Koga, Daisetsu Aoyama, Kyohei Marume, Kenichiro Sawada, Yasuteru Nakashima, Atsushi Shibata, Atsushi Okada, Hiroyuki Takahama, Takuya Hasegawa, Yasuo Sugano, Hideaki Kanzaki, Yoshihiko Ikeda, Satoshi Yasuda, Hatsue Ishibashi-Ueda, Toshihisa Anzai
Connective tissue disorders sometimes involve cardiovascular systems. This report describes the case of a middle-aged man with mitral regurgitation and heart failure. He had distinctive features of mucopolysaccharidosis (MPS) type III, but no gene mutations that were known to be associated with MPS. Meanwhile, he had a COL1A2 gene mutation that is associated with osteogenesis imperfecta (OI), and had some features that were compatible with OI. The patient might have had a rare connective tissue disorder with the characteristics of MPS type III and OI, which was initially detected as a result of the cardiovascular manifestations...
December 8, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29225013/succinate-dehydrogenase-prospect-for-neurodegenerative-diseases
#3
REVIEW
Mohammad Jodeiri Farshbaf, Abbas Kiani-Esfahani
Onset of Alzheimer's, Parkinson's and Huntington's diseases as neurodegenerative disorders is increased by age. Alleviation of clinical symptoms and protection of neurons against degeneration are the main aspects of researches to establish new therapeutic strategies. Many studies have shown that mitochondria play crucial roles in high energy demand tissues like brain. Impairments in mitochondrial activity and physiology can makes neurons vulnerable to stress and degeneration. Succinate dehydrogenase (SDH) connects tricarboxylic cycle to the electron transport chain...
December 7, 2017: Mitochondrion
https://www.readbyqxmd.com/read/29222674/effect-of-rehabilitation-exercise-durations-on-the-dynamic-bone-repair-process-by-coupling-polymer-scaffold-degradation-and-bone-formation
#4
Quan Shi, Qiang Chen, Nicola Pugno, Zhi-Yong Li
Implantation of biodegradable scaffold is considered as a promising method to treat bone disorders, but knowledge of the dynamic bone repair process is extremely limited. In this study, based on the representative volume cell of a periodic scaffold, the influence of rehabilitation exercise duration per day on the bone repair was investigated by a computational framework. The framework coupled scaffold degradation and bone remodeling. The scaffold degradation was described by a function of stochastic hydrolysis independent of mechanical stimulation, and the bone formation was remodeled by a function of the mechanical stimulation, i...
December 8, 2017: Biomechanics and Modeling in Mechanobiology
https://www.readbyqxmd.com/read/29221579/biomarkers-in-connective-tissue-diseases
#5
REVIEW
Neelakshi R Jog, Judith A James
Autoimmune connective tissue diseases are clinically variable, making biomarkers desirable for assessing future disease risk, supporting early and accurate diagnosis, monitoring disease activity and progression, selecting therapeutics, and assessing treatment response. Because of their correlations with specific clinical characteristics and often with disease progression, autoantibodies and other soluble mediators are considered potential biomarkers. Additional biomarkers might reflect downstream pathologic processes or appear because of ongoing inflammation and damage...
December 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29220207/mr-imaging-of-muscle-trauma-anatomy-biomechanics-pathophysiology-and-imaging-appearance
#6
Dyan V Flores, Catalina Mejía Gómez, Mauricio Estrada-Castrillón, Edward Smitaman, Mini N Pathria
Muscle is an important component of the muscle-tendon-bone unit, driving skeletal motion through contractions that alter the length of the muscle. The muscle and myotendinous junction (MTJ) are most commonly injured in the young adult, as a result of indirect mechanisms such as overuse or stretching, direct impact (penetrating or nonpenetrating), or dysfunction of the supporting connective tissues. Magnetic resonance (MR) imaging is widely used for assessment of muscle injuries. This review illustrates the MR imaging appearance of a broad spectrum of acute, subacute, and chronic traumatic lesions of muscle, highlighting the pathophysiology, biomechanics, and anatomic considerations underlying these lesions...
December 8, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29220070/recurrent-hypokalemia-leading-to-flaccid-quadriparesis-a-renal-or-connective-tissue-disorder
#7
Nitin Bansal, Panda Ashwin Kumar, Mukul P Agarwal, Amitesh Aggarwal
Hypokalemic periodic paralysis (hypoKPP) is a clinical entity characterized by recurrent skeletal muscle paralysis due to a decrease in serum potassium levels; hypoKPP can have either a primary (familial) or a secondary cause. One of the secondary causes of hypoKPP is distal renal tubular acidosis (dRTA). Distal renal tubular acidosis (dRTA) is diagnosed when the urinary pH is greater than 5.3 and in the presence of hyperchloremic metabolic acidosis and hypokalemia, with one of the causes being primary Sjögren's syndrome (pSS)...
December 2017: Puerto Rico Health Sciences Journal
https://www.readbyqxmd.com/read/29216800/vascular-ehlers-danlos-syndrome-with-a-novel-missense-col3a1-mutation-present-with-pulmonary-complications-and-iliac-arterial-dissection
#8
Guangchao Gu, Hang Yang, Lijia Cui, Yuanyuan Fu, Fangda Li, Zhou Zhou, Yuehong Zheng
Vascular Ehlers-Danlos syndrome (vEDS) is a life-threatening connective tissue disorder due to its high tendency of arterial and organ rupture. Pulmonary complications in vEDS are rare. We present a young male patient with vEDS who developed severe pulmonary complications and severe rupture of the iliac artery at different stages of his life. Vascular Ehlers-Danlos syndrome was diagnosed based on clinical manifestations and confirmed by the identification of COL3A1 gene mutation. Due to high bleeding tendency and weak cardiopulmonary capacity, conservative treatment was taken for him...
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/29212896/the-novel-desmin-mutation-p-glu401asp-impairs-filament-formation-disrupts-cell-membrane-integrity-and-causes-severe-arrhythmogenic-left-ventricular-cardiomyopathy-dysplasia
#9
Francisco José Bermúdez-Jiménez, Víctor Carriel, Andreas Brodehl, Miguel Alaminos, Antonio Campos, Ilona Schirmer, Hendrik Milting, Beatriz Álvarez Abril, Miguel Álvarez, Silvia López-Fernández, Diego García-Giustiniani, Lorenzo Monserrat, Luis Tercedor, Juan Jiménez-Jáimez
Background -Desmin (DES) mutations cause severe skeletal and cardiac muscle disease with heterogeneous phenotypes. Recently, DES mutations were described in patients with inherited arrhythmogenic right ventricular cardiomyopathy/dysplasia (iARVC/D), although their cellular and molecular pathomechanisms are not precisely known. Our aim is to describe clinically and functionally the novel DES-p.Glu401Asp mutation as a cause of inherited left ventricular arrhythmogenic cardiomyopathy/dysplasia (iLVAC/D). Methods -We identified the novel DES mutation p...
December 6, 2017: Circulation
https://www.readbyqxmd.com/read/29209506/border-terriers-under-primary-veterinary-care-in-england-demography-and-disorders
#10
Dan G O'Neill, Elisabeth C Darwent, David B Church, Dave C Brodbelt
Background: The Border Terrier is a working terrier type that is generally considered to be a relatively healthy and hardy breed. This study aimed to characterise the demography and common disorders of Border Terriers receiving veterinary care in England using de-identified electronic patient record data within the VetCompass™ Programme. Results: Annual birth proportion for Border Terriers showed a decreasing trend from 1.46% in 2005 to 0.78% in 2014. The median adult bodyweight for males (10...
2017: Canine Genetics and Epidemiology
https://www.readbyqxmd.com/read/29208852/extremely-high-serum-ferritin-an-instrumental-marker-of-masquerading-adult-onset-still-s-disease-with-hemophagocytic-syndrome
#11
Shun Yamashita, Naoko E Furukawa, Tomoyo Matsunaga, Yuka Hirakawa, Masaki Tago, Shu-Ichi Yamashita
BACKGROUND Adult-onset Still's disease (AOSD) is a rare multi-systemic inflammatory disorder of unknown etiology characterized by spiking fever, characteristic rash, and arthritis. It often associates with high serum ferritin levels. CASE REPORT An 88-year-old woman had fever of over 39°C without response to extended-spectrum antibiotics for 6 days. She had non-specific erythema with infiltration on her trunk. She had leukocytosis with neutrophilia of 80%, mild hepatic dysfunction, normal level of rheumatoid factor and antinuclear antibody, thrombocytopenia, elevated d-dimer and soluble interleukin2 receptor, extremely high serum ferritin (78 662 ng/mL), and splenomegaly...
December 6, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29207307/systemic-sclerosis-clinical-manifestations-anesthetic-and-orthopedic-considerations-in-a-patient
#12
Obada Hasan, Muneeba Jessar, Muhammad Ashar, Shahryar Noordin, Tashfeen Ahmad
INTRODUCTION: Systemic sclerosis is a rare and progressive multisystem autoimmune disorder that is characterized pathologically by vascular abnormalities, connective tissue sclerosis and atrophy of skin and various internal organs (e.g., alimentary tract, lungs, heart, kidney, CNS), and autoantibodies. With an unknown etiology, Scleroderma is a complex polygenetic disease. A recent Genome Wide Association Study (GWAS) confirmed a strong association with the Major Histocompatibility Complex (MHC) and autoimmunity...
December 2, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29201640/connectome-analysis-with-diffusion-mri-in-idiopathic-parkinson-s-disease-evaluation-using-multi-shell-multi-tissue-constrained-spherical-deconvolution
#13
Koji Kamagata, Andrew Zalesky, Taku Hatano, Maria Angelique Di Biase, Omar El Samad, Shinji Saiki, Keigo Shimoji, Kanako K Kumamaru, Kouhei Kamiya, Masaaki Hori, Nobutaka Hattori, Shigeki Aoki, Christos Pantelis
Parkinson's disease (PD) is a progressive neurodegenerative disorder that affects extensive regions of the central nervous system. In this work, we evaluated the structural connectome of patients with PD, as mapped by diffusion-weighted MRI tractography and a multi-shell, multi-tissue (MSMT) constrained spherical deconvolution (CSD) method to increase the precision of tractography at tissue interfaces. The connectome was mapped with probabilistic MSMT-CSD in 21 patients with PD and in 21 age- and gender-matched controls...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29199167/which-diseases-are-risk-factors-for-developing-gastroesophageal-reflux-disease
#14
Filiz Akyüz, Özlem Mutluay Soyer
Although the pathophysiology of gastroesophageal reflux disease (GERD) remains unclear, it is accepted as a multifactorial disease. It is thought that some of the interventions that might cause alterations in the normal gastrointestinal tract anatomy and diseases that affect the lower esophageal sphincter, esophageal clearance, and stomach motility (gastric emptying) might lay a foundation for GERD development. Moreover, it is common knowledge that GERD might cause various extraesophageal symptoms and complications...
December 2017: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/29198452/betaglycan-tgfbr3-up-regulation-correlates-with-increased-tgf-%C3%AE-signaling-in-marfan-patient-fibroblasts-in-vitro
#15
Menno Evert Groeneveld, Natalija Bogunovic, René John Philip Musters, Geert Jan Tangelder, Gerard Pals, Willem Wisselink, Dimitra Micha, Kak Khee Yeung
BACKGROUND: Marfan syndrome (MFS), a congenital connective tissue disorder leading to aortic aneurysm development, is caused by fibrillin-1 (FBN1) gene mutations. Transforming growth factor beta (TGF-β) might play a role in the pathogenesis. It is still a matter of discussion if and how TGF-β up-regulates the intracellular downstream pathway, although TGF-β receptor 3 (TGFBR3 or Betaglycan) is thought to be involved. We aimed to elucidate the role of TGFBR3 protein in TGF-β signaling in Marfan patients...
November 4, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29195756/an-ultrasound-surface-wave-technique-for-assessing-skin-and-lung-diseases
#16
Xiaoming Zhang, Boran Zhou, Sanjay Kalra, Brian Bartholmai, James Greenleaf, Thomas Osborn
Systemic sclerosis (SSc) is a multi-organ connective tissue disease characterized by immune dysregulation and organ fibrosis. Severe organ involvement, especially of the skin and lung, is the cause of morbidity and mortality in SSc. Interstitial lung disease (ILD) includes multiple lung disorders in which the lung tissue is fibrotic and stiffened. The purpose of this study was to translate ultrasound surface wave elastography (USWE) for assessing patients with SSc and/or ILD via measuring surface wave speeds of both skin and superficial lung tissue...
November 28, 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/29195031/surgical-correction-of-peyronie-s-disease-via-tunica-albuginea-plication-long-term-follow-up
#17
M Seveso, S Melegari, O De Francesco, A Macchi, J Romero Otero, G Taverna, G Bozzini
Peyronie's disease (PD) is an acquired connective tissue disorder of the tunica albuginea with fibrosis and inflammation that lead to palpable plaques formation, penile curvature, and pain during erection. Patients report negative effects on main domains such as physical appearance and self-image, sexual function, and performance. The aim of this study was to evaluate plication of the albuginea outcomes after a long-term follow-up period. Between 1998 and 2006, a total of 204 patients with PD underwent surgical correction with albuginea plication technique...
December 1, 2017: Andrology
https://www.readbyqxmd.com/read/29193944/-atypical-deletions-in-williams-beuren-syndrome
#18
Azubel Ramírez-Velazco, Ma Guadalupe Domínguez-Quezada
The Williams-Beuren (SWB; OMIM 194050) syndrome is an autosomal dominant multisystem disorder that occurs in ~ 1 in 20,000 live births and results from a 7q11.23 deletion spanning ~ 28 genes. This deletion is caused by a nonallelic homologous recombination (NAHR) between low copy repeats present therein. The SWB phenotype is characterized by neonatal hypercalcemia, mental disability, distinctive personality and cognitive profile, short stature, dysmorphic facies, connective tissue disorders and supravalvular aortic stenosis...
September 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/29191563/tgf-%C3%AE-1-p53-signaling-in-renal-fibrogenesis
#19
Stephen P Higgins, Yi Tang, Craig E Higgins, Badar Mian, Wenzheng Zhang, Ralf-Peter Czekay, Rohan Samarakoon, David J Conti, Paul J Higgins
Fibrotic disorders of the renal, pulmonary, cardiac, and hepatic systems are associated with significant morbidity and mortality. Effective therapies to prevent or curtail the advancement to organ failure, however, remain a major clinical challenge. Chronic kidney disease, in particular, constitutes an increasing medical burden affecting >15% of the US population. Regardless of etiology (diabetes, hypertension, ischemia, acute injury, urologic obstruction), persistently elevated TGF-β1 levels are causatively linked to the activation of profibrotic signaling networks and disease progression...
November 28, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/29191101/despite-worse-baseline-status-depressed-patients-achieved-outcomes-similar-to-those-in-nondepressed-patients-after-surgery-for-cervical-deformity
#20
Gregory W Poorman, Peter G Passias, Samantha R Horn, Nicholas J Frangella, Alan H Daniels, D Kojo Hamilton, Hanjo Kim, Daniel Sciubba, Bassel G Diebo, Cole A Bortz, Frank A Segreto, Michael P Kelly, Justin S Smith, Brian J Neuman, Christopher I Shaffrey, Virginie LaFage, Renaud LaFage, Christopher P Ames, Robert Hart, Gregory M Mundis, Robert Eastlack
OBJECTIVE Depression and anxiety have been demonstrated to have negative impacts on outcomes after spine surgery. In patients with cervical deformity (CD), the psychological and physiological burdens of the disease may overlap without clear boundaries. While surgery has a proven record of bringing about significant pain relief and decreased disability, the impact of depression and anxiety on recovery from cervical deformity corrective surgery has not been previously reported on in the literature. The purpose of the present study was to determine the effect of depression and anxiety on patients' recovery from and improvement after CD surgery...
December 2017: Neurosurgical Focus
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