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Connective tissue disorders

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https://www.readbyqxmd.com/read/28428687/lysyl-oxidase-its-diversity-in-health-and-diseases
#1
REVIEW
Suchitra Kumari, Tarun Kumar Panda, Tapaswini Pradhan
The mechanical properties of extracellular matrix (ECM) and connective tissues is largely dependent on the collagen and elastin structure. Lysyl oxidase (LOX) plays a critical role in the formation and repair of the ECM by oxidizing lysine residues in elastin and collagen, thereby initiating the formation of covalent cross linkages which stabilize these fibrous proteins. Due to its multiple functions both extracellularly and intracellularly, lysyl oxidase is involved in several processes in the tumorigenic pathway, in many different cancer types and stages...
June 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28426484/connective-tissue-nevi-a-review-of-the-literature
#2
Harleen Arora, Leyre Falto-Aizpurua, Andrea Cortés-Fernandez, Sonal Choudhary, Paolo Romanelli
Connective tissue nevi (CTN) are hamartomas of the dermis, with the 3 main components being collagen, elastin, and proteoglycans. Each subtype can present as a solitary lesion or multiple lesions. They could present as part of systemic diseases or inherited disorders. This article provides a comprehensive literature review of the different types of CTN, their clinical presentations, associations, and treatment options. Treatment options for 56 lesions were reviewed. Fifty-two percent of lesions were present in males, and the age range at the time of presentation was wide (1...
May 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28424927/development-of-new-extra-glandular-manifestations-or-associated-auto-immune-diseases-after-establishing-the-diagnosis-of-primary-sj%C3%A3-gren-s-syndrome-a-long-term-study-of-the-antonius-nieuwegein-sj%C3%A3-gren-ans-cohort
#3
E J Ter Borg, J C Kelder
To investigate in a long-term study, the development of new extra-glandular manifestations (EGM) or associated auto-immune diseases (AID) from 1 year after establishing the diagnosis of primary Sjögren's syndrome (pSS). The primary goal was to examine the frequency and type of these manifestations and to find out which demographic, clinical and serological profile was most at risk. All outpatients diagnosed with primary Sjögren's syndrome were included in a retrospective study, with at least one check-up per year, from June 1991 until August 2015...
April 19, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28421658/transcriptional-signatures-of-connectomic-subregions-of-the-human-striatum
#4
Linden Parkes, Ben Fulcher, Murat Yücel, Alex Fornito
Functionally distinct regions of the brain are thought to possess a characteristic connectional fingerprint - a profile of incoming and outgoing connections that defines the function of that area. This observation has motivated efforts to subdivide brain areas using their connectivity patterns. However, it remains unclear whether these connectomically-defined subregions can be distinguished at the molecular level. Here, we combine high-resolution diffusion-weighted magnetic resonance imaging with transcriptomic data to show that connectomically-defined subregions of the striatum carry distinct transcriptional signatures...
April 19, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28419360/p4ha1-mutations-cause-a-unique-congenital-disorder-of-connective-tissue-involving-tendon-bone-muscle-and-the-eye
#5
Yaqun Zou, Sandra Donkervoort, Antti M Salo, A Reghan Foley, Aileen M Barnes, Ying Hu, Elena Makareeva, Meganne E Leach, Payam Mohassel, Jahannaz Dastgir, Matthew A Deardorff, Ronald D Cohn, Wendy O DiNonno, Fransiska Malfait, Monkol Lek, Sergey Leikin, Joan C Marini, Johanna Myllyharju, Carsten G Bönnemann
Collagen prolyl 4-hydroxylases (C-P4Hs) play a central role in the formation and stabilization of the triple helical domain of collagens. P4HA1 encodes the catalytic α(I) subunit of the main C-P4H isoenzyme (C-P4H-I). We now report human bi-allelic P4HA1 mutations in a family with a congenital-onset disorder of connective tissue, manifesting as early-onset joint hypermobility, joint contractures, muscle weakness and bone dysplasia as well as high myopia, with evidence of clinical improvement of motor function over time in the surviving patient...
April 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28415608/collagen-type-iv-alpha-1-col4a1-and-collagen-type-xiii-alpha-1-col13a1-produced-in-cancer-cells-promote-tumor-budding-at-the-invasion-front-in-human-urothelial-carcinoma-of-the-bladder
#6
Makito Miyake, Shunta Hori, Yosuke Morizawa, Yoshihiro Tatsumi, Michihiro Toritsuka, Sayuri Ohnishi, Keiji Shimada, Hideki Furuya, Vedbar S Khadka, Youping Deng, Kenta Ohnishi, Kota Iida, Daisuke Gotoh, Yasushi Nakai, Takeshi Inoue, Satoshi Anai, Kazumasa Torimoto, Katsuya Aoki, Nobumichi Tanaka, Noboru Konishi, Kiyohide Fujimoto
Current knowledge of the molecular mechanism driving tumor budding is limited. Here, we focused on elucidating the detailed mechanism underlying tumor budding in urothelial cancer of the bladder. Invasive urothelial cancer was pathologically classified into three groups as follows: nodular, trabecular, and infiltrative (tumor budding). Pathohistological analysis of the orthotopic tumor model revealed that human urothelial cancer cell lines MGH-U3, UM-UC-14, and UM-UC-3 displayed typical nodular, trabecular, and infiltrative patterns, respectively...
March 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28412321/egcg-ameliorates-diet-induced-metabolic-syndrome-associating-with-the-circadian-clock
#7
Yashi Mi, Guoyuan Qi, Rong Fan, Xiaohua Ji, Zhigang Liu, Xuebo Liu
In response to the daily light-dark (LD) cycle, organisms on Earth have evolved with the approximately 24-h endogenous oscillations to coordinate behavioral and physiological processes, including feeding, sleep, and metabolism homeostasis. Circadian desynchrony triggered by an energy-dense diet rich in fats and fructose is intimately connected with a series of metabolic disorders. Previous studies revealed that (-)-Epigallocatechin-3-gallate (EGCG) could mitigate metabolic misalignment; however, only a few reports have focused on its potential effect on directly manipulating circadian rhythms to ameliorate metabolic syndrome...
April 12, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28411448/mtorc1-signaling-and-the-metabolic-control-of-cell-growth
#8
REVIEW
Issam Ben-Sahra, Brendan D Manning
mTOR [mechanistic target of rapamycin] is a serine/threonine protein kinase that, as part of mTORC1 (mTOR complex 1), acts as an important molecular connection between nutrient signals and the metabolic processes indispensable for cell growth. While there has been pronounced interest in the upstream mechanisms regulating mTORC1, the full range of downstream molecular targets through which mTORC1 signaling stimulates cell growth is only recently emerging. It is now evident that mTORC1 promotes cell growth primarily through the activation of key anabolic processes...
April 12, 2017: Current Opinion in Cell Biology
https://www.readbyqxmd.com/read/28405546/arthropathy-in-dermatology-a-comprehensive-review
#9
REVIEW
Soumya Jagadeesan, Padmanabha Shenoy
Dermatology and rheumatology are two specialties that deal with significant overlap. In this context, it is important that the dermatologists acquaint themselves with conditions presenting with arthropathy. As the first step, it is essential to know whether the origin of musculoskeletal symptom is articular or extra-articular; inflammatory or noninflammatory; acute or chronic; oligo- or poly-articular. This will help in narrowing down the differential diagnoses as well as in better correlation with the cutaneous symptoms...
March 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28405530/osborne-s-ligament-a-review-of-its-history-anatomy-and-surgical-importance
#10
REVIEW
Andre Granger, Juan P Sardi, Joe Iwanaga, Thomas J Wilson, Lynda Yang, Marios Loukas, Rod J Oskouian, R Shane Tubbs
When discussing the pathophysiology of ulnar neuropathy, Geoffrey Vaughan Osborne described a fibrous band that can be responsible for the symptoms seen in this disorder. In this paper, we take a glimpse at the life of Osborne and review the anatomy and surgical significance of Osborne's ligament. This band of tissue connects the two heads of the flexor carpi ulnaris and thus forms the roof of the cubital tunnel. To our knowledge, no prior publication has reviewed the history of this ligament, and very few authors have studied its anatomy in any detail...
March 6, 2017: Curēus
https://www.readbyqxmd.com/read/28405484/thyroid-associated-ophthalmopathy
#11
REVIEW
Esra Şahlı, Kaan Gündüz
Thyroid-associated ophthalmopathy is the most frequent extrathyroidal involvement of Graves' disease but it sometimes occurs in euthyroid or hypothyroid patients. Thyroid-associated ophthalmopathy is an autoimmune disorder, but its pathogenesis is not completely understood. Autoimmunity against putative antigens shared by the thyroid and the orbit plays a role in the pathogenesis of disease. There is an increased volume of extraocular muscles, orbital connective and adipose tissues. Clinical findings of thyroid-associated ophthalmopathy are soft tissue involvement, eyelid retraction, proptosis, compressive optic neuropathy, and restrictive myopathy...
April 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28405043/anaesthetic-management-of-a-child-with-stone-man-syndrome-look-before-you-leap
#12
Geeta Kamal, Anju Gupta, Sapna Batla, Nishkarsh Gupta
Stone Man syndrome or fibrodysplasia ossificans progressiva (FOP) is an extremely rare (1 in 2 million) genetic disorder characterised by ectopic ossification of the skeletal and connective tissues leading to progressive fusion of axial and appendicular skeleton. Surgery and anaesthesia-induced trauma can lead to disease flare-up if due precautions are not taken and disable the patient further. However, rarity of the disease may lead to its common misdiagnosis and anaesthesiologist may be caught unaware. There is relative paucity of literature regarding anaesthetic management of children with FOP...
March 2017: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/28402325/the-bioenergetics-of-inflammation-insights-into-obesity-and-type-2-diabetes
#13
REVIEW
K N Keane, E K Calton, R Carlessi, P H Hart, P Newsholme
Diabetes mellitus is one of the most common chronic metabolic disorders worldwide, and its incidence in Asian countries is alarmingly high. Type 2 diabetes (T2DM) is closely associated with obesity, and the staggering rise in obesity is one of the primary factors related to the increased frequency of T2DM. Low-grade chronic inflammation is also accepted as an integral metabolic adaption in obesity and T2DM, and is believed to be a major player in the onset of insulin resistance. However, the exact mechanism(s) that cause a persistent chronic low-grade infiltration of leukocytes into insulin-target tissues such as adipose, skeletal muscle and liver are not entirely known...
April 12, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28401074/proteus-syndrome-with-arteriovenous-malformation
#14
Ali Asilian, Atefeh Sadat Kamali, Nabet Tajmir Riahi, Neda Adibi, Fatemeh Mokhtari
Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation) unlike the usual vascular malformations seen in this syndrome...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28395736/generation-of-an-induced-pluripotent-stem-cell-line-from-a-loeys-dietz-syndrome-patient-with-transforming-growth-factor-beta-receptor-2-gene-mutation
#15
Kui Hu, Jun Li, Kai Zhu, Jinmiao Chen, Dingqian Liu, Yulin Wang, Yongxin Sun, Hao Lai, Chunsheng Wang
Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder, commonly caused by genetic mutation of transforming growth factor-beta receptor (TGFBR)-1 or TGFBR2. This study describes the generation of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells obtained from an LDS patient with TGFBR2 mutation (R193W). Analysis confirmed the cells had a normal karyotype, expressed typical pluripotency markers, had the ability to differentiate into all three germ layers in vivo, and retained the TGFBR2 mutation from the derived hiPSCs...
April 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28390781/clinical-disorders-responsible-for-plasma-hyperviscosity-and-skin-complications
#16
REVIEW
Gregorio Caimi, Melania Carlisi, Caterina Urso, Rosalia Lo Presti, Eugenia Hopps
In this brief review, we have examined some clinical disorders which are associated to an altered hemorheological profile and at times accompanied by skin ulcers. This skin condition may be, in fact, observed in patients with primary plasma hyperviscosity such as multiple myeloma, Waldenstrom macroglobulinemia, cryoglobulinemia, cryofibrinogenemia, dysfibrinogenemia and connective tissue diseases. It must be underlined that the altered hemorheological pattern is not the only responsible for this skin complication but, as it worsens the microcirculatory flow, it contributes to determine the occurrence of the skin ulcers...
April 5, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28389200/rituximab-therapy-in-necrotizing-autoimmune-myopathy-associated-with-anti-srp-antibody-a-clinical-case-review
#17
Francisco Javier Nóvoa Medina, José Gutiérrez Martínez, Yeray González González, Beatriz Romero Díaz, Sergio Machín García, Antonio Rosas Romero
Necrotizing autoimmune myopathy (NAM) is a rare and emerging entity of idiopathic inflammatory myopathy (IIM). They have been associated with connective tissue disorders, viral infections, malignancy, anti-signal recognition particle (SRP) and anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase protein (with or without the use of statins). Anti-SRP associated NAM has different clinical and histological characteristics that differentiate them from other IIM, resulting in a poor prognosis. Very few cases treated with rituximab have been published, with varying clinical response...
April 4, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28386937/a-recognizable-systemic-connective-tissue-disorder-with-polyvalvular-heart-dystrophy-and-dysmorphism-associated-with-tab2-mutations
#18
Marco Ritelli, Silvia Morlino, Edoardo Giacopuzzi, Laura Bernardini, Barbara Torres, Graziano Santoro, Viola Ravasio, Nicola Chiarelli, Daniela D'Angelantonio, Antonio Novelli, Paola Grammatico, Marina Colombi, Marco Castori
Deletions encompassing TAK1-binding protein 2 (TAB2) associate with isolated and syndromic congenital heart defects. Rare missense variants are found in patients with a similar phenotype as well as in a single individual with frontometaphyseal dysplasia. We describe a family and an additional sporadic patient with polyvalvular heart disease, generalized joint hypermobility and related musculoskeletal complications, soft, velvety and hyperextensible skin, short limbs, hearing impairment, and facial dysmorphism...
April 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28385916/mild-aerobic-exercise-blocks-elastin-fiber-fragmentation-and-aortic-dilatation-in-a-mouse-model-of-marfan-syndrome-associated-aortic-aneurysm
#19
Christine P Gibson, Cory Nielsen, Ramona Alex, Kimbal Cooper, Michael Farney, Douglas Gaufin, Jason Z Cui, Cornelis van Breemen, Tom L Broderick, Johana Vallejo-Elias, Mitra Esfandiarei
Regular low impact physical activity is generally allowed in patients with Marfan syndrome, a connective tissue disorder caused by heterozygous mutations in the fibrillin-1 gene. However, being above-average in height encourages young adults with this syndrome to engage in high-intensity contact sports, which unfortunately increases the risk for aortic aneurysm and rupture, the leading cause of death in Marfan syndrome. In this study, we investigated the effects of voluntary (wheel-cage) or forced (treadmill) aerobic exercise at different intensities on aortic function and structure in a mouse model of Marfan syndrome...
April 6, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28383843/-marfan-syndrome-in-childhood-and-adolescence
#20
S Magotteaux, S Bulk, N Farhat, N Sakalihasan, J-O Defraigne, M-Ch Seghaye
The Marfan syndrome is a systemic connective tissue disorder with autosomal dominant inheritance. A mutation of the fibrillin-1 gene, a glycoprotein which is the main constituent of the extracellular matrix, is the cause of the disease. The cardinal features involve the skeletal, ocular and cardiovascular systems. The expression of the Marfan syndrome varies from the severe neonatal presentation to the classical manifestations of the child and young adult, but also comprises isolated features. In children, phenotypical manifestations are age dependent...
July 2016: Revue Médicale de Liège
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