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https://www.readbyqxmd.com/read/28548288/hypermineralization-and-high-osteocyte-lacunar-density-in-osteogenesis-imperfecta-type-v-bone-indicate-exuberant-primary-bone-formation
#1
Stéphane Blouin, Nadja Fratzl-Zelman, Francis H Glorieux, Paul Roschger, Klaus Klaushofer, Joan C Marini, Frank Rauch
In contrast to "classical" forms of Osteogenesis imperfecta (OI) types I to IV, caused by a mutation in COL1A1/A2, OI type V is due to a gain-of-function mutation in the IFITM5 gene, encoding the interferon-induced transmembrane protein 5, or bone-restricted ifitm-like protein (BRIL). Its phenotype distinctly differs from OI types I to IV by absence of blue sclerae and dentinogenesis imperfecta, by the occurrence of ossification disorders like hyperplastic callus and forearm interosseous membrane ossification...
May 26, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28540270/fgf-23-klotho-and-vitamin-d-levels-in-scleroderma
#2
Ravan Ahmadi, Mehrzad Hajialilo, Amir Ghorbanihaghjo, Ali Mota, Sina Raeisi, Nasrin Bargahi, Mohammad Valilo, Farahnaz Askarian
BACKGROUND: Scleroderma is a chronic connective tissue disease of unknown etiology. Vitamin D and parathyroid hormone (PTH) that play particular functions in calcium and phosphate homeostasis may be involved in the etiology of this disorder. Klotho, the co-receptor of the fibroblast growth factor 23 (FGF-23), can interfere with calcium and phosphate metabolism. The purpose of this study was to evaluate serum Klotho, FGF-23, intact PTH (iPTH) and vitamin D levels in scleroderma patients compared with the healthy controls...
April 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28539832/recapitulating-and-correcting-marfan-syndrome-in-a-cellular-model
#3
Jung Woo Park, Li Yan, Chris Stoddard, Xiaofang Wang, Zhichao Yue, Leann Crandall, Tiwanna Robinson, Yuxiao Chang, Kyle Denton, Enqin Li, Bin Jiang, Zhenwu Zhang, Kristen Martins-Taylor, Siu-Pok Yee, Hong Nie, Feng Gu, Wei Si, Ting Xie, Lixia Yue, Ren-He Xu
Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in FBN1 gene, which encodes a key extracellular matrix protein FIBRILLIN-1. The haplosufficiency of FBN1 has been implicated in pathogenesis of MFS with manifestations primarily in cardiovascular, muscular, and ocular tissues. Due to limitations in animal models to study the late-onset diseases, human pluripotent stem cells (PSCs) offer a homogeneic tool for dissection of cellular and molecular pathogenic mechanism for MFS in vitro. Here, we first derived induced PSCs (iPSCs) from a MFS patient with a FBN1 mutation and corrected the mutation, thereby generating an isogenic "gain-of-function" control cells for the parental MFS iPSCs...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/28539683/stubborn-rectal-prolapse-in-systemic-sclerosis
#4
Sven Petersen, Alexander Tobisch, Gero Puhl, Ina Kötter, Uwe Wollina
Systemic sclerosis (SSc) is an autoimmune connective tissue disorder. Anorectal involvement might typically cause fecal incontinence and rarely rectal prolapse. Here we report three female patients, who were admitted with a mean history of 10 years suffering from SSc. All patients presented with the initial symptom of anal incontinence, in all cases this was associated with rectal intussusception or rectal prolapse. The three women faced prolapse recurrence, independent of the initial procedure. After surgical removal of the prolapse, the incontinence remained...
2017: Reumatologia
https://www.readbyqxmd.com/read/28539677/fatigue-and-sleep-quality-in-rheumatoid-arthritis-patients-during-hospital-admission
#5
Paulina Szady, Grażyna Bączyk, Katarzyna Kozłowska
OBJECTIVES: Rheumatoid arthritis (RA) is a systemic disease of connective tissue characterised by chronic course with periods of exacerbation and remission. Even in the early stages of the disease patients report the occurrence of fatigue and sleep disorders. Reduced sleep quality and chronic fatigue are common among patients with rheumatoid arthritis. The aim of the research was to evaluate the severity of fatigue and sleep quality assessment among patients hospitalised with rheumatoid arthritis and to determine the relation between the level of symptoms of fatigue and sleep quality and variables such as: age, gender, disease duration, marital status, applied pharmacological treatment, and pain intensity...
2017: Reumatologia
https://www.readbyqxmd.com/read/28539414/moderately-elevated-homocysteine-does-not-contribute-to-thoracic-aortic-aneurysm-in-mice
#6
Jasmin Roohi, Benjamin Kang, David Bernard, Djahida Bedja, Harry C Dietz, Lawrence C Brody
Background: Moderate hyperhomocysteinemia is an attractive target for intervention because it is present in 5-7% of the population and can be reversed by diet. This approach presupposes that hyperhomocysteinemia is directly involved in the disease process. Epidemiologic studies have indicated that moderately elevated homocysteine may contribute to thoracic aortic aneurysm (TAA) dilatation and dissection in humans. In vitro, elevated homocysteine disrupts the structure and function of extracellular matrix components, suggesting that moderate hyperhomocysteinemia may contribute to the development and/or progression of TAA...
May 24, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28532352/understanding-glaucomatous-optic-neuropathy-the-synergy-between-clinical-observation-and-investigation
#7
Harry A Quigley
Glaucoma is a complex disorder of aging defined by the death of retinal ganglion cells and remodeling of connective tissues at the optic nerve head. Intraocular pressure-induced axonal injury at the optic nerve head leads to apoptosis. Loss of retinal ganglion cells follows a slowly progressive sequence. Clinical features of the disease have suggested and corroborated pathological events. The death of retinal ganglion cells causes secondary loss of neurons in the brain, but only as a by-product of injury to the retinal ganglion cells...
October 14, 2016: Annual Review of Vision Science
https://www.readbyqxmd.com/read/28528779/atypical-articular-presentations-in-indian-children-with-rheumatic-fever
#8
Euden Bhutia, Dinesh Kumar, Mohan Kundal, Sunil Kishore, Atul Juneja
BACKGROUND: The objective of the study was to describe the clinical characteristics of atypical articular presentations during the initial outbreak and recurrence in patients with acute rheumatic fever (ARF) in the paediatric age group. METHODS: This was a retrospective, observational study conducted between January 2012 and December 2014 on all suspected cases of acute rheumatic fever (ARF) fulfilling either WHO 2004 or Australian guidelines with atypical articular manifestations ie, presence of at least one of the following features: duration of symptoms more than three weeks; monoarthritis/arthralgia; involvement of small joints of hand and feet and/or cervical spine and/or hip joint; and, not responding to salicylates in one week...
April 24, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28526040/catching-a-floating-thrombus-a-case-report-on-the-treatment-of-a-large-thrombus-in-the-ascending-aorta
#9
Gijs Eduard de Maat, Giorgio Vigano, Massimo Alessandro Mariani, Ehsan Natour
BACKGROUND: The ascending aorta is an uncommon site for non-infective thrombus. In non-aneurysmal and non-atherosclerotic vessels this condition becomes extremely rare, while it represents a source of potential cerebral and peripheral embolic events. Currently, there is no consensus in the guidelines on how to treat a free floating thrombus in ascending aorta, therefore we present our decision making process and therapeutic strategy. CASE PRESENTATION: A healthy 48-year-old man was hospital admitted with acute abdominal pain...
May 19, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28523890/handy-hints-about-raynaud-s-phenomenon-in-children-a-critical-review
#10
REVIEW
Donato Rigante, Michele Fastiggi, Francesco Ricci, Francesca D'Errico, Benedetta Bracci, Cristina Guerriero
Raynaud's phenomenon (RP) is a vasospastic disorder characterized by recurrent self-limited episodes of skin pallor, cyanosis, and hyperemia caused by paroxysmal spasms in the small arteries of the fingers and toes and can occur in any age group. Hands, feet, nose, ears, and nipples can be affected. The diagnosis is made clinically, assessing varying degrees of ischemia in the involved areas of skin, but this transient ischemia may also herald the onset of connective tissue disease. Investigation is recommended when RP starts in childhood to exclude an underlying autoimmune condition and close follow-up for its development...
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28518111/using-enzyme-based-biosensors-to-measure-tonic-and-phasic-glutamate-in-alzheimer-s-mouse-models
#11
Holly C Hunsberger, Sharay E Setti, Ryan T Heslin, Jorge E Quintero, Greg A Gerhardt, Miranda N Reed
Neurotransmitter disruption is often a key component of diseases of the central nervous system (CNS), playing a role in the pathology underlying Alzheimer's disease, Parkinson's disease, depression, and anxiety. Traditionally, microdialysis has been the most common (lauded) technique to examine neurotransmitter changes that occur in these disorders. But because microdialysis has the ability to measure slow 1-20 minute changes across large areas of tissue, it has the disadvantage of invasiveness, potentially destroying intrinsic connections within the brain and a slow sampling capability...
May 3, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28509412/-three-hits-hypothesis-for-developmental-origins-of-health-and-diseases-in-view-of-cardiovascular-abnormalities
#12
REVIEW
Xiang Li, Mengshu Zhang, Xinghua Pan, Zhice Xu, Miao Sun
"Fetal Origins of Adult Diseases" (FOAD) or "Barker hypothesis," also known as the developmental origins of health and diseases (DoHaD), was initially proposed by David Barker in the 1980s. Progress in past 2 to 3 decades demonstrated that many adult disorders, including hypertension, diabetes, obesity, cancer, and others, could be linked to poor development resulting from in utero insults. Utero-environments play a critical role in fetal development. Because the placenta and umbilical cord are the only important connections between the fetus and mother in the uterus, this review pays special attention to recent research and progress in the study of the relationship between those tissues and FOAD...
May 16, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28508360/genome-to-phenome-a-systems-biology-approach-to-ptsd-using-an-animal-model
#13
Nabarun Chakraborty, James Meyerhoff, Marti Jett, Rasha Hammamieh
Post-traumatic stress disorder (PTSD) is a debilitating illness that imposes significant emotional and financial burdens on military families. The understanding of PTSD etiology remains elusive; nonetheless, it is clear that PTSD is manifested by a cluster of symptoms including hyperarousal, reexperiencing of traumatic events, and avoidance of trauma reminders. With these characteristics in mind, several rodent models have been developed eliciting PTSD-like features. Animal models with social dimensions are of particular interest, since the social context plays a major role in the development and manifestation of PTSD...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28506627/rxrb-is-a-mhc-encoded-susceptibility-gene-associated-with-anti-topoisomerase-i-antibody-positive-systemic-sclerosis
#14
Akira Oka, Yoshihide Asano, Minoru Hasegawa, Manabu Fujimoto, Osamu Ishikawa, Masataka Kuwana, Yasushi Kawaguchi, Toshiyuki Yamamoto, Hiroki Takahashi, Daisuke Goto, Hirahito Endo, Masatoshi Jinnin, Shuhei Mano, Kazuyoshi Hosomichi, Tomotaka Mabuchi, Mahoko Takahashi Ueda, So Nakagawa, Stephan Beck, Seiamak Bahram, Kazuhiko Takehara, Shinichi Sato, Hironobu Ihn
Systemic sclerosis (SSc) is a systemic autoimmune and connective tissue disorder associated with the human leukocyte antigen (HLA) locus. However, the functional relationship between HLA gene(s) and disease development remains unknown. To elucidate major histocompatibility complex (MHC)-linked SSc genetics, we performed genotyping of MHC-borne microsatellites and HLA-DPB1 alleles using DNA obtained from 318 anti-topoisomerase I antibody-positive patients and 561 healthy controls, all of Japanese descent. Those results revealed 2 MHC haplotypes associated with SSc...
May 12, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28505127/variability-of-dna-methylation-within-schizophrenia-risk-loci-across-subregions-of-human-hippocampus
#15
W Brad Ruzicka, Sivan Subburaju, Francine M Benes
Identification of 108 genomic regions significantly associated with schizophrenia risk by the Psychiatric Genomics Consortium was a milestone for the field, and much work is now focused on determining the mechanism of risk associated with each locus. Within these regions, we investigated variability of DNA methylation, a low-level cellular phenotype closely linked to genotype, in two highly similar cellular populations sampled from the human hippocampus, to draw inferences about the elaboration of genotype to phenotype within these loci enriched for schizophrenia risk...
May 15, 2017: Genes
https://www.readbyqxmd.com/read/28502593/meprin-metalloproteases-molecular-regulation-and-function-in-inflammation-and-fibrosis
#16
REVIEW
Philipp Arnold, Anna Otte, Christoph Becker-Pauly
The zinc-endopeptidases meprin α and meprin β are extracellular proteases involved in connective tissue homeostasis, intestinal barrier function and immunological processes. Meprins are unique amongst other extracellular proteases with regard to cleavage specificity and structure. Meprin α and meprin β have a strong preference for negatively charged amino acids around the scissile bond, reflected by cleavage sites identified in procollagen I, the amyloid precursor protein (APP) and the interleukin-6 receptor (IL-6R)...
May 11, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28499808/high-contrast-high-resolution-imaging-of-posttraumatic-mandibular-nerve-by-3dac-propeller-magnetic-resonance-imaging-correlation-with-the-severity-of-sensory-disturbance
#17
Makoto Terumitsu, Hitoshi Matsuzawa, Kenji Seo, Masaki Watanabe, Shigenobu Kurata, Akiko Suda, Tsutomu Nakada
OBJECTIVE: Magnetic resonance neurography reveals abnormal morphologies of regenerated nerves and overgrown connective tissue in injured trigeminal nerves, suggesting neuroma formation. We hypothesized that such deformities and scar formation contribute to pain symptoms. STUDY DESIGN: High-contrast high-resolution magnetic resonance imaging was utilized to evaluate the inferior alveolar nerve and lingual nerve following traumatic injury in 19 patients. The relationship between the morphologic classification and severity of the sensory disorder was assessed...
March 14, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28499667/insight-into-the-incidence-of-acute-aortic-dissection-in-the-german-region-of-berlin-and-brandenburg
#18
S D Kurz, V Falk, J Kempfert, M Gieb, T M Ruschinski, M Kukucka, M Tsokos, H Grubitzsch, H Herbst, J Semmler, C Buschmann
BACKGROUND: Stanford acute type A aortic dissection (ATAAD) is a potentially lethal condition. Epidemiology studies show a statistical incidence in Europe of approximately 2-16 cases/100,000 inhabitants/year. In Germany, the estimated incidence (here subsumed under "thoracic aortic dissection" with 4.63 cases/100,000 inhabitants/year) is mainly extracted from medical death certificates by the German Federal Statistical Office. The prehospital incidence of ATAAD deaths is largely unknown...
May 6, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28498836/mutations-in-col1a1-and-col1a2-and-dental-aberrations-in-children-and-adolescents-with-osteogenesis-imperfecta-a-retrospective-cohort-study
#19
Kristofer Andersson, Göran Dahllöf, Katarina Lindahl, Andreas Kindmark, Giedre Grigelioniene, Eva Åström, Barbro Malmgren
Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and COL1A2). Dentinogenesis imperfecta (DGI) and other dental aberrations are common features of OI. We investigated the association between collagen I mutations and DGI, taurodontism, and retention of permanent second molars in a retrospective cohort of 152 unrelated children and adolescents with OI. The clinical examination included radiographic evaluations. Teeth from 81 individuals were available for histopathological evaluation...
2017: PloS One
https://www.readbyqxmd.com/read/28484680/superior-semicircular-canal-dehiscence-in-a-patient-with-ehlers-danlos-syndrome-a-case-report
#20
Lawrance K Chung, Carlito Lagman, Daniel T Nagasawa, Quinton Gopen, Isaac Yang
Superior semicircular canal dehiscence (SSCD) is a bony defect in the middle cranial fossa floor that results in an abnormal connection between the inner ear and cranial vault. Although the etiology of SSCD remains unclear, an inappropriately thin or fragile temporal bone likely predisposes an individual towards developing SSCD. Ehlers-Danlos syndrome (EDS) constitutes a group of genetic connective tissue disorders caused by a defect in the production, processing, or structure of collagen, or its associated proteins...
April 6, 2017: Curēus
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