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idiopathic membranous

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https://www.readbyqxmd.com/read/29777911/deficiency-in-gnrh-receptor-trafficking-due-to-a-novel-homozygous-mutation-causes-idiopathic-hypogonadotropic-hypogonadism-in-three-prepubertal-siblings
#1
Rui Zhang, Siyuan Linpeng, Zhuo Li, Yingxi Cao, Hu Tan, Desheng Liang, Lingqian Wu
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients are diagnosed in late adolescence or early adulthood. Determining the diagnosis of IHH in prepubertal patients can be challenging. Making a timely, correct diagnosis has important clinical implications. Here we aimed to identify the genetic cause of IHH in three prepubertal siblings from a Chinese Han family and give appropriate treatment advice. Using whole exome sequencing (WES), we identified a novel homozygous GNRHR mutation (NM_000406; c...
May 16, 2018: Gene
https://www.readbyqxmd.com/read/29777258/development-of-a-two-stage-in-vitro-model-system-to-investigate-the-mineralization-mechanisms-involved-in-idiopathic-stone-formation-stage-1-biomimetic-randall-s-plaque-using-decellularized-porcine-kidneys
#2
Archana C Lovett, Saeed R Khan, Laurie B Gower
Idiopathic calcium oxalate (CaOx) stone formers form stones that are commonly attached to calcium phosphate (CaP) deposits in the renal tissue, known as Randall's plaques (RP). Plaques are suggested to originate in the renal tubular basement membrane, where they exhibit a morphology of concentrically laminated apatitic spherules, while in the interstitial regions, the collagen fibrils and vesicles become mineralized. We hypothesize that these minerals might form by non-classical crystallization mechanisms, such as via amorphous precursors, some of which might originate from a polymer-induced liquid-precursor (PILP) process...
May 18, 2018: Urolithiasis
https://www.readbyqxmd.com/read/29771728/long-term-prognostic-factors-for-visual-improvement-after-epiretinal-membrane-removal
#3
Sohee Jeon, Byungju Jung, Won Ki Lee
PURPOSE: To identify prognostic factors that may predict the amount of long-term visual improvement after idiopathic epiretinal membrane removal. METHODS: A retrospective study of 114 patients who underwent epiretinal membrane removal was performed. The central foveal thickness, inner retinal layer thickness, inner retinal irregularity index, length of the cone outer segment tip line defect, and length of the ellipsoid zone defect were measured. The optical coherence tomography parameters that were associated with the amount of visual improvement were determined at 24 months postoperatively...
May 14, 2018: Retina
https://www.readbyqxmd.com/read/29766467/thrombotic-microangiopathy-on-kidney-biopsy-in-a-patient-with-tafro-syndrome
#4
Toshikazu Ozeki, Masashi Tsuji, Junichiro Yamamoto, Chisato Shigematsu, Shoichi Maruyama
TAFRO syndrome represents a characteristic constellation of symptoms comprising Thrombocytopenia, Anasarca, myeloFibrosis, Renal dysfunction, and Organomegaly, and is considered to be a clinicopathologic variant of idiopathic multicentric Castleman disease. A 51-year-old woman was admitted to the hospital complaining of abdominal distension. Findings on physical examination were indicative of anasarca. Computed tomography revealed mild splenomegaly, pericardial effusion, pleural effusion, ascites, and paraaortic lymphadenopathy...
May 15, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29758035/changes-in-macular-pigment-optical-density-after-membrane-peeling
#5
Mario R Romano, Gilda Cennamo, Piergiacomo Grassi, Federica Sparnelli, Davide Allegrini, Giovanni Cennamo
INTRODUCTION: To highlight the differences in macular pigment optical density (MPOD) between eyes with vitreoretinal interface syndrome and healthy control eyes, to assess the changes in MPOD in eyes treated with macular peeling, to investigate the relationships between MPOD changes and measures of retinal sensitivity such as best corrected visual acuity (BCVA) and microperimetry. METHODS: In this cross-sectional comparative study, 30 eyes affected by idiopathic epiretinal membrane (iERM, 15eyes) or full-thickness macular hole (FTMH, 15eyes) were compared with 60 eyes from 30 healthy age-matched patients...
2018: PloS One
https://www.readbyqxmd.com/read/29755981/diagnostic-test-accuracy-of-serum-anti-pla2r-autoantibodies-and-glomerular-pla2r-antigen-for-diagnosing-idiopathic-membranous-nephropathy-an-updated-meta-analysis
#6
Weiying Li, Yuliang Zhao, Ping Fu
Background: M-type phospholipase A2 receptor (PLA2R) is known as a major antigen on podocytes, which is involved with the pathogenesis of idiopathic membranous nephropathy (iMN). Many studies have shown that serum anti-PLA2R autoantibodies (sPLA2R) are prevalent in patients with iMN but are rarely detected in secondary membranous nephropathy (SMN) or other glomerulonephritis. The anti-PLA2R is considered as a promising serum biomarker in iMN but reports about its diagnostic value are variable and inconsistent...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29755820/surgical-outcomes-of-idiopathic-epiretinal-membrane-the-g%C3%A3-lhane-experience
#7
Dorukcan Akıncıoğlu, Gökhan Özge, Murat Küçükevcilioğlu, Fazıl Cüneyt Erdurman, Ali Hakan Durukan
Objectives: We aimed to report our experiences and outcomes of vitreoretinal surgery in idiopathic epiretinal membrane. Materials and Methods: We retrospectively reviewed patients who underwent vitreoretinal surgery for idiopathic epiretinal membrane between January 2012 and 2014. The patients' pre- and postoperative visual acuity, slit-lamp examination findings, and optical coherence tomography (OCT) images were evaluated. Results: Forty-five eyes of 45 patients (36% male, 64% female) were included (mean age, 69±8...
April 2018: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/29755819/vitreoretinal-interface-characteristics-in-eyes-with-idiopathic-macular-holes-qualitative-and-quantitative-analysis
#8
Arzu Seyhan Karatepe, Jale Menteş, E Tansu Erakgün, Filiz Afrashi, Serhad Nalçacı, Cezmi Akkın, Yeşim Ateş
Objectives: To determine the qualitative and quantitative vitreoretinal interface characteristics with spectral domain optical coherence tomography (SD-OCT) in eyes with macular hole (MH) and investigate their relation with best corrected visual acuity (BCVA) and MH duration. Materials and Methods: Sixty-one eyes of 46 consecutive patients diagnosed with idiopathic MH were included in the study. The mean age of the patients was 66.7±7.5 (51-79) years. Complete ophthalmologic examination and SD-OCT examination were performed in all eyes and MH stages were determined according to SD-OCT findings...
April 2018: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/29747354/-long-term-clinical-observation-on-postoperative-microstructural-change-of-macula-lutea-in-treatment-of-idiopathic-macular-epiretinal-membrane
#9
M F Jiao, J P Liu, X T Chen, X R Li
Objective: To evaluate the relationship between the structure of macular region and prognosis after vitrectomy in idiopathic macular epiretinal membrane patients. Methods: Retrospective case series study. The cases of 74 idiopathic macular epiretinal membrane patients (31 female patients, 43 male patients, aged 68.1±6.9) who received surgery treatment in our hospital during January 2013 and December were collected and analyzed. Ophthalmic routine examination and optical coherence tomography (OCT) have been conducted for all patients prior to operation...
April 11, 2018: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29746409/clinical-characteristics-long-term-surgical-outcomes-and-prognostic-factors-of-epiretinal-membrane-in-young-patients
#10
Wenwen Chen, Xiao Shen, Peijun Zhang, Gezhi Xu, Rui Jiang, Xin Huang, Yanqiong Zhang, Qing Chang
PURPOSE: To explore the clinical characteristics, long-term surgical outcomes, and prognostic factors for vision improvement in young patients with epiretinal membrane (ERM). METHODS: A cohort of in-patients aged <40 years and underwent surgical removal of ERM were selected from medical records between January 2009 and December 2015. Data from pre- and postoperative examinations were analyzed for evaluation of surgical outcome. RESULTS: A total of 142 eyes of 140 patients were included...
April 30, 2018: Retina
https://www.readbyqxmd.com/read/29746406/hemi-temporal-internal-limiting-membrane-peeling-is-as-effective-and-safe-as-conventional-full-peeling-for-macular-hole-surgery
#11
Akira Shiono, Jiro Kogo, Hiroki Sasaki, Ryo Yomoda, Tatsuya Jujo, Naoto Tokuda, Yasushi Kitaoka, Hitoshi Takagi
PURPOSE: To investigate the efficacy of hemi-temporal internal limiting membrane (ILM) peeling for idiopathic macular hole. METHODS: The medical records of patients with macular holes who had undergone vitrectomy with ILM peeling were studied. Forty-two eyes with macular hole were divided into 2 groups based on surgical procedure (hemi-temporal ILM peeling [hemi group]: 15 eyes; 360° ILM peeling [360° group]: 27 eyes). The closure rates and distances between the optic disc and the intersection of two retinal vessels most closely located nasally or temporally to the macular hole were compared...
May 9, 2018: Retina
https://www.readbyqxmd.com/read/29738569/intraretinal-changes-in-idiopathic-versus-diabetic-epiretinal-membranes-after-macular-peeling
#12
Mario R Romano, Gennaro Ilardi, Mariantonia Ferrara, Gilda Cennamo, Davide Allegrini, Pia Pafundi, Ciro Costagliola, Stefania Staibano, Giovanni Cennamo
INTRODUCTION: Epiretinal traction is not responsible only for epiretinal but also intraretinal changes. This study aims to describe structural and vascular intraretinal changes after macular peeling in idiopathic (iERM) vs diabetic ERM (dERM). METHODS: We conducted a prospective interventional study on forty-two eyes, 23 with iERMs and 19 with dERMs, undergoing ERM-ILM peeling. We performed SD-OCT preoperatively, 1 and 6 months postoperatively to assess central macular thickness (CMT), intraretinal cysts (IC) and/or continuous ectopic inner foveal layers (CEIFL), superficial and deep capillary free zone (CFZ) area on OCT-A...
2018: PloS One
https://www.readbyqxmd.com/read/29726062/expanded-acceptance-of-acute-exacerbation-of-nonspecific-interstitial-pneumonia-including-7-additional-cases-with-detailed-clinical-pathologic-correlation
#13
Atsushi Miyamoto, Amita Sharma, Michiya Nishino, Mari Mino-Kenudson, Osamu Matsubara, Eugene Jerome Mark
Acute exacerbation is uncommonly diagnosed in patients with nonspecific interstitial pneumonia (NSIP) and its pathologic features have received relatively little attention compared to idiopathic pulmonary fibrosis. We retrospectively studied 14 consecutive cases of histopathologically proven NSIP by surgical lung biopsy. The diagnosis of acute exacerbation was confirmed clinically. We analyzed whether four reported pathologic features, including organizing pneumonia lesion, alveolar hemorrhage, many fibroblastic foci, and focal hyaline membranes were present and suggestive of acute exacerbation of NSIP or not...
May 3, 2018: Pathology International
https://www.readbyqxmd.com/read/29719640/outcomes-of-light-silicone-oil-tamponade-for-failed-idiopathic-macular-hole-surgery
#14
M Hossein Nowroozzadeh, Hossein Ashraf, Mehdi Zadmehr, Mohsen Farvardin
Purpose: To study the outcomes of redo macular hole surgery using light silicone oil tamponade. Methods: In this study, medical charts of consecutive patients who underwent redo pars plana vitrectomy, extended dye-assisted internal limiting membrane peel, and light silicone oil tamponade for failed previous macular hole surgery (from January 2010 to June 2014) were retrospectively reviewed. Best spectacle corrected visual acuity and anatomical closure rates were regarded as outcome measures...
April 2018: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/29707409/juvenile-idiopathic-arthritis-associated-with-combined-jp-hht-syndrome-a-novel-phenotype-associated-with-a-novel-variant-in-smad4
#15
Juliet Chhay Bishop, Jacquelyn Francis Britton, Anne M Murphy, Sangeeta Sule, Sally Mitchell, Clifford Takemoto, Joseph M Collaco, Wikrom Karnsakul, Carmelo Cuffari, Edith Dietz, Joann Bodurtha
Juvenile polyposis (JP) syndrome is characterized by multiple hamartomatous polyps of the gastrointestinal tract. Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectasia in the skin, mucous membranes, and arteriovenous malformations in other organs. Individuals with JP-HHT syndrome have variable features of both rare disorders, attributed to heterozygous mutations in the SMAD4 gene. Systemic juvenile idiopathic arthritis (JIA) is a severe, chronic disease marked by arthritis and systemic inflammation for which the cause remains unknown...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29689027/surgical-outcomes-after-inverted-internal-limiting-membrane-flap-versus-conventional-peeling-for-very-large-macular-holes
#16
Raja Narayanan, Sumit R Singh, Stanford Taylor, Maria H Berrocal, Jay Chhablani, Mudit Tyagi, Kyoko Ohno-Matsui, Rajeev R Pappuru, Rajendra S Apte
PURPOSE: To evaluate the anatomical and visual outcomes of inverted flap technique of peeling of internal limiting membrane (ILM) versus standard peeling of ILM for macular holes of basal diameter more than 800 μm. METHODS: Patients with very large idiopathic macular holes more than 800 μm in basal diameter (ranging from 243 μm to 840 μm in minimum diameter) were retrospectively included in the study. In Group A, 18 eyes of 18 patients underwent ILM peeling using the inverted flap technique...
April 23, 2018: Retina
https://www.readbyqxmd.com/read/29683951/respiratory-distress-and-severe-anemia-in-a-child-with-idiopathic-pulmonary-hemosiderosis
#17
Münevver T Temel, Levent Temel, Mehmet E Coskun, Bugra T Konduk, Sinan Akbayram, Abdullah T Demiryürek
Idiopathic pulmonary hemosiderosis is an infrequent cause of pulmonary hemorrhage in children. It is classically defined by the triad of recurrent hemoptysis, iron-deficiency anemia, and diffuse parenchymal infiltration without an obvious cause. The pathogenesis remains unexplained, diagnosis may be difficult, and the clinical course exceedingly variable. A 4-year-old girl was admitted to the hospital with complaints of dyspnea, and skin and mucous membrane pallor. The suspicion of idiopathic pulmonary hemosiderosis led to the use of corticosteroid therapy with rapid improvement in clinical condition and discharge from hospital...
April 20, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29682916/pediatric-uveitis
#18
Nicole Shu-Wen Chan, Jessy Choi, Chui Ming Gemmy Cheung
Pediatric uveitis differs from adult-onset uveitis and is a topic of special interest because of its diagnostic and therapeutic challenges. Children with uveitis are often asymptomatic and the uveitis is often chronic, persistent, recurrent, and resistant to conventional treatment. Anterior uveitis is the most common type of uveitis in children; the prevalence of intermediate, posterior, and panuveitis varies geographically and among ethnic groups. Regarding etiology, most cases of pediatric uveitis are idiopathic but can be due to systemic inflammatory disorders, infections, or a manifestation of masquerade syndrome...
April 23, 2018: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/29682097/growth-differentiation-factor-15-as-a-predictor-of-idiopathic-membranous-nephropathy-progression-a-retrospective-study
#19
Young Rok Ham, Chang Hun Song, Hong Jin Bae, Jin Young Jeong, Min-Kyung Yeo, Dae Eun Choi, Ki-Ryang Na, Kang Wook Lee
Idiopathic membranous nephropathy (IMN) is a major cause of nephrotic syndrome. No biomarker to predict the long-term prognosis of IMN is currently available. Growth differentiation factor-15 (GDF-15) is a member of the transforming growth factor- β superfamily and has been associated with chronic inflammatory disease. It has the potential to be a useful prognostic marker in patients with renal diseases, such as diabetic nephropathy and IgA nephropathy. This study examined whether GDF-15 is associated with the clinical parameters in IMN and showed that GDF-15 can predict IMN disease progression...
2018: Disease Markers
https://www.readbyqxmd.com/read/29681010/impaired-tissue-barriers-as-potential-therapeutic-targets-for-parkinson-s-disease-and-amyotrophic-lateral-sclerosis
#20
REVIEW
Xin Fang
The blood-brain barrier and the intestinal barrier show signs of disruption in patients with idiopathic Parkinson's disease (PD) and animal models of nigrostriatal degeneration, and likewise in amyotrophic lateral sclerosis (ALS) models. A substantial body of evidence shows that defects in epithelial membrane barriers, both in the gut and within the cerebral vasculature, can result in increased vulnerability of tissues to external factors potentially participating in the pathogenesis of PD and ALS. As such, restoration of tissue barriers may prove to be a novel therapeutic target in neurodegenerative disease...
April 22, 2018: Metabolic Brain Disease
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