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https://www.readbyqxmd.com/read/28926972/juvenile-moyamoya-and-craniosynostosis-in-a-child-with-deletion-1p32p31-expanding-the-clinical-spectrum-of-1p32p31-deletion-syndrome-and-a-review-of-the-literature
#1
Paolo Prontera, Daniela Rogaia, Amedea Mencarelli, Valentina Ottaviani, Ester Sallicandro, Giorgio Guercini, Susanna Esposito, Anna Bersano, Giuseppe Merla, Gabriela Stangoni
Moyamoya angiopathy (MA) is a rare cerebrovascular disorder characterised by the progressive occlusion of the internal carotid artery. Its aetiology is uncertain, but a genetic background seems likely, given the high MA familial rate. To investigate the aetiology of craniosynostosis and juvenile moyamoya in a 14-year-old male patient, we performed an array-comparative genomic hybridisation revealing a de novo interstitial deletion of 8.5 Mb in chromosome region 1p32p31. The deletion involved 34 protein coding genes, including NF1A, whose haploinsufficiency is indicated as being mainly responsible for the 1p32-p31 chromosome deletion syndrome phenotype (OMIM 613735)...
September 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28926845/leptospirosis-renal-disease-emerging-culprit-of-chronic-kidney-disease-unknown-etiology
#2
Chih-Wei Yang
Leptospirosis is the most prevalent zoonosis affecting more than 1 million populations worldwide. Interestingly, leptospirosis endemic regions coincide with chronic kidney disease (CKD) hotspots largely due to flooding and agricultural overlaps. Acute leptospirosis induces multiple organ dysfunction including acute kidney injury and may predispose to CKD and end-stage renal disease, if not treated timely. Asymptomatic infection may carry the bacteria in the kidney and CKD progresses insidiously. Histologic finding of leptospirosis renal disease includes tubulointerstitial nephritis, interstitial fibrosis, and tubular atrophy...
September 20, 2017: Nephron
https://www.readbyqxmd.com/read/28926468/rituximab-experience-in-patients-with-long-standing-systemic-sclerosis-associated-interstitial-lung-disease-a-series-of-14-patients
#3
Alper Sari, Denizcan Guven, Berkan Armagan, Abdulsamet Erden, Umut Kalyoncu, Omer Karadag, Sule Apras Bilgen, Ihsan Ertenli, Sedat Kiraz, Ali Akdogan
OBJECTIVES: The objective of this study was to report the experience with rituximab treatment in a case series of patients with long-standing systemic sclerosis-associated interstitial lung disease (SSc-ILD). METHODS: We reviewed the charts of 197 SSc patients. Fourteen patients who received rituximab for SSc-ILD participated in this analysis. Pulmonary function tests, high-resolution thorax computed tomography and modified Rodnan skin scores were evaluated at baseline and end of the follow-up...
September 19, 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/28925707/heterovalent-doping-in-colloidal-semiconductor-nanocrystals-cation-exchange-enabled-new-accesses-to-tuning-dopant-luminescence-and-electronic-impurities
#4
Jiatao Zhang, Qiumei Di, Jia Liu, Bing Bai, Jian Liu, Meng Xu, Jiajia Liu
Heterovalent doping in colloidal semiconductor nanocrystals (CSNCs), with provisions of extra electrons (n-type doping) or extra holes (p-type doping), could enhance their performance of optical and electronical properties. In view of the challenges imposed by the intrinsic self-purification, self-quenching, and self-compensation effects of CSNCs, we outline the progresses on heterovalent doping in CSNCs, with particular focus on the cation exchange-enabled tuning of dopant luminescence and electronic impurities...
September 19, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/28925574/radiographic-fibrosis-score-predicts-survival-in-systemic-sclerosis-associated-interstitial-lung-disease
#5
Reoto Takei, Machiko Arita, Shogo Kumagai, Yuhei Ito, Fumiaki Tokioka, Takashi Koyama, Rintaro Saito, Keisuke Nishimura, Hironobu Tokumasu, Tadashi Ishida
BACKGROUND AND OBJECTIVE: Interstitial lung disease (ILD) is a common pulmonary manifestation of systemic sclerosis (SSc). It is unknown whether radiographic fibrosis score predicts mortality in SSc-associated ILD (SSc-ILD). We retrospectively analysed patients with SSc-ILD to evaluate whether radiographic fibrosis score was a useful predictor of mortality. METHODS: We identified SSc-ILD patients evaluated at Kurashiki Central Hospital (Japan) from 2006 to 2016, and radiographic fibrosis scores based on the extent of reticulation and honeycombing on high-resolution computed tomography (HRCT) scanning were calculated by manually tracing around each fibrotic area...
September 19, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/28924113/the-evaluation-of-interstitial-abnormalities-in-group-b-of-the-2011-global-initiative-for-chronic-obstructive-lung-disease-gold-classification-of-chronic-obstructive-pulmonary-disease-copd
#6
Masahiro Ohgiya, Hirotoshi Matsui, Atsuhisa Tamura, Takafumi Kato, Shinobu Akagawa, Ken Ohta
Objective In 2011, the Global Initiative for Chronic Obstructive Lung Disease (GOLD) classification categorized chronic obstructive pulmonary disease (COPD) patients into 4 groups. A report demonstrated that the mortality in Group B was higher than that in Group C. Ischemic heart disease and cancer were suggested to be the cause. The aim of the present study was to test the hypothesis that interstitial lung abnormalities (ILAs) are more prevalent in Group B than Group C and that they may be responsible for the higher mortality in Group B...
September 15, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28924106/intravenous-immunoglobulin-monotherapy-for-granulomatous-lymphocytic-interstitial-lung-disease-in-common-variable-immunodeficiency
#7
Mizue Hasegawa, Fumikazu Sakai, Asako Okabayashi, Akitoshi Sato, Naoko Yokohori, Hideki Katsura, Chihiro Asano, Toshiko Kamata, Eitetsu Koh, Yasuo Sekine, Kenzo Hiroshima, Takashi Ogura, Tamiko Takemura
Common variable immunodeficiency (CVID) is a heterogeneous subset of immunodeficiency disorders. Recurrent bacterial infection is the main feature of CVID, but various non-infectious complications can occur. A 42-year-old woman presented with cough and abnormal chest X-ray shadows. Laboratory tests showed remarkable hypogammaglobulinemia. Computed tomography revealed multiple consolidation and nodules on the bilateral lung fields, systemic lymphadenopathy, and splenomegaly. A surgical lung biopsy specimen provided the final diagnosis of lymphoproliferative disease in CVID, which was grouped under the term granulomatous lymphocytic interstitial lung disease...
September 15, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28923937/direct-engagement-of-the-pi3k-pathway-by-mutant-kit-dominates-oncogenic-signaling-in-gastrointestinal-stromal-tumor
#8
Benedikt Bosbach, Ferdinand Rossi, Yasemin Yozgat, Jennifer Loo, Jennifer Q Zhang, Georgina Berrozpe, Katherine Warpinski, Imke Ehlers, Darren Veach, Andrew Kwok, Katia Manova, Cristina R Antonescu, Ronald P DeMatteo, Peter Besmer
Gastrointestinal stromal tumors (GISTs) predominantly harbor activating mutations in the receptor tyrosine kinase KIT. To genetically dissect in vivo the requirement of different signal transduction pathways emanating from KIT for tumorigenesis, the oncogenic Kit(V558Δ) mutation was combined with point mutations abrogating specific phosphorylation sites on KIT. Compared with single-mutant Kit(V558Δ/+) mice, double-mutant Kit(V558Δ;Y567F/Y567F) knock-in mice lacking the SRC family kinase-binding site on KIT (pY567) exhibited attenuated MAPK signaling and tumor growth...
September 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28923650/does-renal-tubular-injury-induced-local-tissue-hypoxia-involve-post-transplantation-erythrocytosis
#9
A Unal, S Ata, C Karakurkcu, M Z Ciraci, I Kocyigit, M H Sipahioglu, B Tokgoz, O Oymak
BACKGROUND: The pathogenesis of post-transplantation erythrocytosis (PTE) is not well understood and appears to be multifactorial. Our hypothesis in this study was that several factors, including toxicity of calcineurin inhibitor, immunologic factors, and chronic allograft nephropathy, can trigger local tissue hypoxia in peritubular interstitium, which is where production of erythropoietin (EPO) takes place. This local interstitial tissue hypoxia can cause an increase in renal EPO production, which induces the development of PTE...
October 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28923440/interstitial-lung-disease-in-the-connective-tissue-diseases-a-paradigm-shift-in-diagnosis-and-treatment
#10
Paul F Dellaripa
Interstitial lung disease (ILD) in the connective tissue diseases (CTD) is amongst the most challenging aspect of care of patients with rheumatic diseases and is the source of significant morbidity and mortality. While there has been progress in our understanding of the natural history of these complications, we still suffer from a limited reservoir of data to confidently determine which patients are at highest risk for disease and those who are at highest risk for disease progression. Treatment options until recently have been limited to anti-inflammatory therapies but with the emerging availability of anti-fibrotic therapies, a shift in strategy is emerging to target therapies based on the specific radiographic, histopathologic features and biomarker profiles that are unique to patients with rheumatic diseases and ILD...
September 15, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28923112/cobalt-nanoparticles-induce-lung-injury-dna-damage-and-mutations-in-mice
#11
Rong Wan, Yiqun Mo, Zhenyu Zhang, Mizu Jiang, Shichuan Tang, Qunwei Zhang
BACKGROUND: We and other groups have demonstrated that exposure to cobalt nanoparticles (Nano-Co) caused oxidative stress and inflammation, which have been shown to be strongly associated with genotoxic and carcinogenic effects. However, few studies have reported Nano-Co-induced genotoxic effects in vivo. Here, we propose that Nano-Co may have high genotoxic effects due to their small size and high surface area, which have high capacity for causing oxidative stress and inflammation. METHODS: gpt delta transgenic mice were used as our in vivo study model...
September 18, 2017: Particle and Fibre Toxicology
https://www.readbyqxmd.com/read/28923086/usefulness-of-lung-ultrasound-b-lines-in-connective-tissue-disease-associated-interstitial-lung-disease-a-literature-review
#12
REVIEW
YuKai Wang, Luna Gargani, Tatiana Barskova, Dan E Furst, Marco Matucci Cerinic
Interstitial lung disease (ILD) is a major pulmonary manifestation of connective tissue disease (CTD), leading to significant morbidity and mortality. Chest high-resolution computed tomography (HRCT) is presently considered the diagnostic gold standard for pulmonary fibrosis diagnosis and quantification in the clinical arena. However, not negligible doses of ionizing radiation limit the use of HRCT, especially for serial follow-up in younger female patients. In the past decade, lung ultrasound (LUS) has been proposed to assess ILD by detecting and quantifying sonographic B-lines...
September 18, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28922978/6-year-old-sheep-as-a-clinically-relevant-large-animal-model-for-aortic-valve-replacement-using-tissue-engineered-grafts-based-on-decellularized-allogenic-matrix
#13
Karolina Theodoridis, Igor Tudorache, Serghei Cebotari, Tanja Meyer, Alexandru Calistru, Samir Sarikouch, Cristoph Bara, Axel Haverich, Andres Hilfiker
Tissue-engineered (TE) grafts based on decellularized grafts have shown very promising results in preclinical and clinical studies. However, in animal models valves have either been tested in juvenile models or in the clinically less relevant pulmonary valve position. In this study, we tested the grafts in the aortic valve (AV) position of 6-year old sheep, as geriatric patients in need of an aortic valve substitute due to calcification are the largest patient group benefiting from TE grafts. Decellularized AV (n=4) and decellularized AV additionally re-endothelialized with autologous cells (n=3) were implanted in the aortic valve position of 6-year-old female sheep...
September 19, 2017: Tissue Engineering. Part C, Methods
https://www.readbyqxmd.com/read/28922876/visual-deficit-from-laser-interstitial-thermal-therapy-for-temporal-lobe-epilepsy-anatomical-considerations
#14
Walter J Jermakowicz, Michael E Ivan, Iahn Cajigas, Ramses Ribot, Ignacio Jusue-Torres, Mehul B Desai, Armando Ruiz, Pierre-Francois D'Haese, Andres M Kanner, Jonathan R Jagid
BACKGROUND: Laser interstitial thermal therapy (LITT) is quickly emerging as an effective surgical therapy for temporal lobe epilepsy (TLE). One of the most frequent complications of the procedure is postoperative visual field cuts, but the physiopathology of these deficits is unknown. OBJECTIVE: To evaluate potential causes of visual deficits after LITT for TLE in an attempt to minimize this complication. METHODS: This retrospective chart review compares the case of a 24-year-old male who developed homonymous hemianopsia following LITT for TLE to 17 prior patients who underwent the procedure and suffered no visual deficit...
October 1, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28922659/serum-matrix-metalloproteinase-7-level-is-associated-with-fibrosis-and-renal-survival-in-patients-with-iga-nephropathy
#15
Jian Zhang, Pingping Ren, Yucheng Wang, Shi Feng, Cuili Wang, Xiujin Shen, Chunhua Weng, Xiaobing Lang, Zhiming Chen, Hong Jiang, Jianghua Chen
BACKGROUND/AIMS: In view of the latest findings that matrix metalloproteinase-7 (MMP-7) acted as a vital marker and pathogenic mediator of renal fibrosis in a murine model, we hypothesized that serum MMP-7 level might serve as a noninvasive prognostic biomarker in IgA nephropathy (IgAN) patients. METHODS: We conducted a retrospective follow-up study of 244 IgAN patients for a median of 81.9 months. Serum MMP-7 was detected at the time of diagnosis, and renal progression was assessed by Cox proportional hazards method...
September 18, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/28922358/quantifying-the-effects-of-antiangiogenic-and-chemotherapy-drug-combinations-on-drug-delivery-and-treatment-efficacy
#16
Sirin Yonucu, Defne Yιlmaz, Colin Phipps, Mehmet Burcin Unlu, Mohammad Kohandel
Tumor-induced angiogenesis leads to the development of leaky tumor vessels devoid of structural and morphological integrity. Due to angiogenesis, elevated interstitial fluid pressure (IFP) and low blood perfusion emerge as common properties of the tumor microenvironment that act as barriers for drug delivery. In order to overcome these barriers, normalization of vasculature is considered to be a viable option. However, insight is needed into the phenomenon of normalization and in which conditions it can realize its promise...
September 18, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28921709/kidney-allograft-failure-in-the-steroid-free-immunosuppression-era-a-matched-case-control-study
#17
Mohamad M Alkadi, Jim Kim, Meredith J Aull, Joseph E Schwartz, John R Lee, Anthony Watkins, Jun B Lee, Darshana M Dadhania, Surya V Seshan, David Serur, Sandip Kapur, Manikkam Suthanthiran, Choli Hartono, Thangamani Muthukumar
We studied the causes and predictors of death-censored kidney allograft failure among 1670 kidney recipients transplanted at our center in the corticosteroid-free maintenance immunosuppression era. As of January 1, 2012, we identified 137 recipients with allograft failure; 130 of them (cases) were matched 1-1 for recipient age, calendar year of transplant and donor type with 130 recipients with functioning grafts (controls). Median time to allograft failure was 29 months (interquartile range 18-51). Physician validated and biopsy confirmed categories of allograft failure were: acute rejection (21%), glomerular disease (19%), transplant glomerulopathy (13%), interstitial fibrosis tubular atrophy (10%), and polyomavirus-associated nephropathy (7%)...
September 18, 2017: Clinical Transplantation
https://www.readbyqxmd.com/read/28921638/graft-infiltrating-pd-l1-hi-cross-dressed-dendritic-cells-regulate-anti-donor-t-cell-responses-in-mouse-liver-transplant-tolerance
#18
Yoshihiro Ono, Angelica Perez-Gutierrez, Toshimasa Nakao, Helong Dai, Geoffrey Camirand, Osamu Yoshida, Shinichiro Yokota, Donna Beer Stolz, Mark A Ross, Adrian E Morelli, David A Geller, Angus W Thomson
While a key role of cross-dressing has been established in immunity to viral infection and more recently in the instigation of transplant rejection, its role in tolerance is unclear. Here, we investigated the role of intra-graft dendritic cells (DC) and cross-dressing in mouse major histocompatibility complex (MHC)-mismatched liver transplant tolerance that occurs without therapeutic immunosuppression. While donor interstitial DC diminished rapidly following transplantation, they were replaced in the liver by host DC that peaked on postoperative day (POD) 7 and persisted indefinitely...
September 16, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28921538/a-fast-inverse-treatment-planning-strategy-facilitating-optimized-catheter-selection-in-image-guided-high-dose-rate-interstitial-gynecologic-brachytherapy
#19
Christian V Guthier, Antonio L Damato, Juergen W Hesser, Akila N Viswanathan, Robert A Cormack
PURPOSE: Interstitial high-dose-rate (HDR) brachytherapy is an important therapeutic strategy for the treatment of locally advanced gynecologic (GYN) cancers. The outcome of this therapy is determined by the quality of dose distribution achieved. This paper focuses on a novel yet simple heuristic for catheter selection for GYN HDR brachytherapy and their comparison against state of the art optimization strategies. The proposed technique is intended to act as a decision-supporting tool to select a favorable needle configuration...
September 18, 2017: Medical Physics
https://www.readbyqxmd.com/read/28921478/interstitial-pneumonia-with-autoimmune-features-an-additional-risk-factor-for-ards
#20
Giacomo Grasselli, Beatrice Vergnano, Maria Rosa Pozzi, Vittoria Sala, Gabriele D'Andrea, Vittorio Scaravilli, Marco Mantero, Alberto Pesci, Antonio Pesenti
BACKGROUND: Interstitial pneumonia with autoimmune features (IPAF) identifies a recently recognized autoimmune syndrome characterized by interstitial lung disease and autoantibodies positivity, but absence of a specific connective tissue disease diagnosis or alternative etiology. We retrospectively reviewed the clinical presentation, diagnostic workup and management of seven critically ill patients who met diagnostic criteria for IPAF. We compared baseline characteristics and clinical outcome of IPAF patients with those of the population of ARDS patients admitted in the same period...
September 18, 2017: Annals of Intensive Care
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