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Connective tissue disorders

Dennis D Spencer, Jason L Gerrard, Hitten P Zaveri
Intracranial electrophysiological recording in patients with refractory focal epilepsy is the gold standard for defining epileptogenic tissue. Although the concordance of intracranial electrophysiology, structural MRI, and pathology can identify brain regions for resection, complete seizure control after surgery is not achieved in all patients with focal epilepsy. Repetitive identical behavioural seizures suggest one onset area, but epileptogenesis might be distributed and connected by functional and structural brain networks outside the seizure onset area, which could explain poor postsurgical outcomes in some patients...
April 2018: Lancet Neurology
Yanqin Lu, Yunzhang Dai, Yanzhou Wang, Naixiang Zhai, Jian Zhang, Junlong Liu, Xiaoli Yin, Tianyou Li, Xiuzhi Ren, Jinxiang Han
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder with a predominately autosomal-dominant inheritance pattern. Recessive forms of OI are rare and involve many different causative genes. WNT1 mutations were found to cause either autosomal-recessive OI or dominantly inherited early-onset osteoporosis. Here we describe a 32-year-old boy with severe osteopenia and deformity of the extremities. The relative long thumb and ring finger are obvious. We identified a novel combination of complex heterozygous WNT1 mutation of c...
February 2018: Intractable & Rare Diseases Research
Marta Obremska, Maria Boratyńska, Maciej Szymczak, Dorota Zyśko, Tomasz Płonek, Anna Goździk, Marian Klinger
INTRODUCTION    The dilatation of aortic root (AoR) correlates with cardiac damage and higher cardiovascular risk. The cardiovascular disease is the most common cause of death in patient after kidney transplantation ( KTX). OBJECTIVES    The aim of this study was to assess the prevalence of enlarged AoR diameter in patient after KTX. Patients with  bicuspid aortic valve, significant valvular disease or evidence of connective tissue disorder were excluded. PATIENTS AND METHODS    The all 87 patients after KTX were divided into 2 groups depend on immunosuppressive regimen :mTORi group: 41 patients treated with mammalian target of rapamycin inhibitors  and CNI group: 46 with calcineurin inhibitors...
March 17, 2018: Polish Archives of Internal Medicine
Shahram E Mehr, Adrian Barbul, Cyndya A Shibao
Gastrointestinal symptoms are among the most common complaints in patients with postural tachycardia syndrome (POTS). In some cases, they dominate the clinical presentation and cause substantial disabilities, including significant weight loss and malnutrition, that require the use of invasive treatment to support caloric intake. Multiple cross-sectional studies have reported a high prevalence of gastrointestinal symptoms in POTS patients with connective tissue diseases, such as Ehlers-Danlos, hypermobile type, and in patients with evidence of autonomic neuropathy...
March 16, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
Kevin C Lee, Scott M Peters, Yen Chen Kevin Ko, Timothy C Kunkle, Michael A Perrino, Angela J Yoon, Elizabeth M Philipone
Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by the deposition of amorphous hyaline material in the dermis and submucosal connective tissue. Here, we present a case of LP with significant oral, dermatologic, and neurologic manifestations occurring in a 10 year-old female of Asian descent. In addition to the more typical oral findings of restricted tongue movement and labial and buccal mucosal involvement, this case highlights an unusual pattern of gingival enlargement infrequently reported in the literature...
February 14, 2018: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Keisuke Handa, Syouta Abe, V Venkata Suresh, Yoshiyasu Fujieda, Masaki Ishikawa, Ai Orimoto, Yoko Kobayashi, Satoru Yamada, Satoko Yamaba, Shinya Murakami, Masahiro Saito
OBJECTIVE: Marfan syndrome (MFS) is a systemic connective tissue disorder caused by insufficient fibrillin-1 (FBN-1), a major component of microfibrils that controls the elasticity and integrity of connective tissues. FBN-1 insufficiency in MFS leads to structural weakness, which causes various tissue disorders, including cardiovascular and periodontal disease. However, the role of FBN-1 insufficiency in the destruction and regeneration of connective tissue has not yet been clarified...
March 6, 2018: Archives of Oral Biology
Emanuel Rivera-Rosado, David Beaton-Comulada, Eric Hernandez-Ortiz, Pablo V Marrero-Ortiz
Fibrous dysplasia is a benign developmental disorder of bone in which fibrous connective tissue containing abnormal bone with irregular trabeculae replaces normal cancellous bone. It may affect 1 (monostotic) or multiple bones (polyostotic). Polyostotic disease is the less common of the 2, occurring in only 20 to 25% of fibrous dysplasia patients and tending to affect those who are younger than 10 years of age; patients having this form tend to experience bone enlargement beyond normal skeletal maturation, which can cause pain, progressive damage, and increased risk of pathological fracture...
March 2018: Puerto Rico Health Sciences Journal
Leili Pourafkari, Samad Ghaffari, Mojan Ahmadi, Rezvaniye Salehi, Sarvin Mazani, Raziyeh Parizad, Nader D Nader
OBJECTIVE: Aortic dissection is an uncommon and potentially fatal complication of pregnancy; however, the association of the number of pregnancies with the indexed and absolute size of ascending aorta in patients without aortic aneurysm or connective tissue disorders is not well elucidated. RESEARCH DESIGN AND METHODS: In this prospective observational study, women aged 18-80 years old undergoing transesophageal echocardiography in a university-affiliated echocardiography laboratory between January 1st 2015 and September 1st 2015 were enrolled...
March 16, 2018: Current Medical Research and Opinion
Joyce J Lu, Jason D Slaikeu, Peter Y Wong
Marfan syndrome is a well-described autosomal dominant connective tissue disorder with a constellation of anatomic characteristics including aortic degeneration as a result of the spontaneous mutation of the fibrillin gene, FBN1 . Whereas life-threatening dissection and ascending aneurysmal rupture have been thoroughly documented in the literature, aneurysms of the abdominal aorta and those present in the pediatric population have only rarely been reported. In this case report, we describe presentation, successful open surgical repair, and recovery of a pediatric Marfan syndrome patient with a ruptured abdominal aortic aneurysm...
March 2018: Journal of Vascular Surgery Cases and Innovative Techniques
Mariusz Z Ratajczak, Daniel Pedziwiatr, Monika Cymer, Magda Kucia, Jolanta Kucharska-Mazur, Jerzy Samochowiec
Evidence has accumulated that the occurrence of psychiatric disorders is related to chronic inflammation. In support of this linkage, changes in the levels of circulating pro-inflammatory cytokines and chemokines in the peripheral blood (PB) of psychiatric patients as well as correlations between chronic inflammatory processes and psychiatric disorders have been described. Furthermore, an inflammatory process known as "sterile inflammation" when initiated directly in brain tissue may trigger the onset of psychoses...
2018: Frontiers in Psychiatry
Shubhra Jain, Vinod Joshi, Yogendra S Rathore, Narendra Khippal
Several occupational hazards, especially exposure to silica, have been implicated as causal factors for the development of scleroderma-like disorders. Compared to other connective tissue disorders, silica-associated systemic sclerosis (SA-SS) is relatively rare. Silica-induced scleroderma is indistinguishable from idiopathic systemic sclerosis. However, the former expresses a high predisposition of pulmonary involvement and anti-Scl-70 antibody. We report the case of a 42-year-old male, stone cutter by occupation, who was diagnosed as simple chronic silicosis and developed systemic sclerosis...
May 2017: Indian Journal of Occupational and Environmental Medicine
Hye In Jung, Jae Seok Park, Mi-Young Lee, ByeongJu Park, Hyun Jung Kim, Sun Hyo Park, Won-Il Choi, Choong Won Lee
We aimed to explore lung cancer prevalence in interstitial lung disease (ILD) patients with or without connective tissue disorder (CTD) and idiopathic pulmonary fibrosis (IPF) in comparison with chronic obstructive pulmonary disorder (COPD).We evaluated lung cancer prevalence associated with ILD and IPF using Korean Health Insurance Review and Assessment Service (HIRA) data from January to December 2011. This database (HIRA-NPS-2011-0001) was sampled using random sampling of outpatients; 1,375,842 sample cases were collected, and 670,258 (age ≥ 40 ys) were evaluated...
March 2018: Medicine (Baltimore)
Kyokun Uehara, Hitoshi Matsuda, Jiro Matsuo, Yosuke Inoue, Atsushi Omura, Yoshimasa Seike, Hiroaki Sasaki, Junjiro Kobayashi
AIM: To evaluate the surgical outcomes and midterm results of patients under 50 years old with acute type A aortic dissection (AAAD). METHODS: The study population included 51 patients who underwent AAAD repair between 2003 and 2016. Of these 51 patients, 46 (90.1%) were males and 14 (27.5%) had connective tissue disorders. Twenty-five patients (49.0%) had a body mass index >25.0 kg/m2 and two patients were pregnant. Total arch replacement was performed in 39 patients (76...
March 13, 2018: Journal of Cardiac Surgery
Zhiyi Liu, Dimitra Pouli, Carlo A Alonzo, Antonio Varone, Sevasti Karaliota, Kyle P Quinn, Karl Münger, Katia P Karalis, Irene Georgakoudi
Monitoring subcellular functional and structural changes associated with metabolism is essential for understanding healthy tissue development and the progression of numerous diseases, including cancer, diabetes, and cardiovascular and neurodegenerative disorders. Unfortunately, established methods for this purpose either are destructive or require the use of exogenous agents. Recent work has highlighted the potential of endogenous two-photon excited fluorescence (TPEF) as a method to monitor subtle metabolic changes; however, mechanistic understanding of the connections between the detected optical signal and the underlying metabolic pathways has been lacking...
March 2018: Science Advances
Christina Gerth-Kahlert, Samuel Koller
Ciliopathies are disorders caused by ciliary dysfunction and can affect an organ system or tissues. Isolated or syndromic retinal dystrophies are the most common ocular manifestation of ciliopathies. The photoreceptor connecting cilium plays a leading role in these ciliopathy-related retinal dystrophies. Dysfunctional photoreceptor cilia cause the most severe type of retinal dystrophy: Leber's congenital amaurosis (LCA). The most common syndromic ciliopathies with an ocular manifestation are Bardet-Biedl syndrome (BBS) and Usher syndrome...
March 2018: Klinische Monatsblätter Für Augenheilkunde
Stuart K Kim, John P A Ioannidis, Marwa A Ahmed, Andrew L Avins, John P Kleimeyer, Michael Fredericson, Jason L Dragoo
Plantar fascial disorder is comprised of plantar fasciitis and plantar fibromatosis. Plantar fasciitis is the most common cause of heel pain, especially for athletes involved in running and jumping sports. Plantar fibromatosis is a rare fibrous hyperproliferation of the deep connective tissue of the foot. To identify genetic loci associated with plantar fascial disorders, a genome-wide association screen was performed using publically available data from the Research Program in Genes, Environment and Health including 21,624 cases of plantar fascial disorders and 80,879 controls...
March 13, 2018: International Journal of Sports Medicine
Matthias Christian Reichert, Juozas Kupcinskas, Marcin Krawczyk, Christoph Jüngst, Markus Casper, Frank Grünhage, Beate Appenrodt, Vincent Zimmer, Susanne Nicole Weber, Algimantas Tamelis, Jaune Ieva Lukosiene, Neringa Pauziene, Gediminas Kiudelis, Laimas Jonaitis, Christoph Schramm, Tobias Goeser, Antje Schulz, Maciej Malinowski, Matthias Glanemann, Limas Kupcinskas, Frank Lammert
BACKGROUND: Colonic diverticulosis is one of the most common gastroenterological disorders. Although diverticulosis is typically benign, many individuals develop diverticulitis or other aspects of diverticular disease. Diverticulosis is thought to stem from a complex interaction of environmental, dietary, and genetic factors; however, the contributing genetic factors remain unknown. OBJECTIVE: The aim of our present study was to determine the role of genetic variants within genes encoding for collagens of the connective tissue in diverticulosis...
March 12, 2018: Diseases of the Colon and Rectum
Gabriel Maciel, Luisa Servioli, Carlotta Nannini, Alvise Berti, Cynthia S Crowson, Sara J Achenbach, Eric L Matteson, Divi Cornec
Objective: To determine rates and primary discharge diagnoses of hospitalisation in a cohort of patients with incident primary Sjögren's syndrome (pSS) compared with the general population. Methods: This was a retrospective population-based cohort study focused on Olmsted County, Minnesota. The pSS cohort consisted of patients with incident pSS in the 1976-2015 period and was compared with a cohort of individuals without pSS matched 3:1 for age, sex and calendar year, randomly selected from the same population...
2018: RMD Open
Jennifer C Hocking, Jakub K Famulski, Kevin H Yoon, Sonya A Widen, Cassidy S Bernstein, Sophie Koch, Omri Weiss, Seema Agarwala, Adi Inbal, Ordan J Lehmann, Andrew J Waskiewicz
The eye primordium arises as a lateral outgrowth of the forebrain, with a transient fissure on the inferior side of the optic cup providing an entry point for developing blood vessels. Incomplete closure of the inferior ocular fissure results in coloboma, a disease characterized by gaps in the inferior eye and recognized as a significant cause of pediatric blindness. Here, we identify eight patients with defects in tissues of the superior eye, a congenital disorder that we term superior coloboma. The embryonic origin of superior coloboma could not be explained by conventional models of eye development, leading us to reanalyze morphogenesis of the dorsal eye...
March 9, 2018: PLoS Genetics
Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
Ehlers-Danlos syndrome classical type (cEDS) is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with cEDS. A copy number variant-calling algorithm from panel sequencing data identified the deletions exons 2-11 and duplications of exons 12-67 within COL5A1...
March 9, 2018: Congenital Anomalies
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