keyword
https://read.qxmd.com/read/38544349/idiopathic-generalized-epilepsy-in-a-family-with-scn4a-related-myotonia
#21
JOURNAL ARTICLE
Mariagrazia Talarico, Francesco Fortunato, Audrey Labalme, Louis Januel, Nicolas Chatron, Damien Sanlaville, Ilaria Sammarra, Monica Gagliardi, Radha Procopio, Paola Valentino, Grazia Annesi, Gaetan Lesca, Antonio Gambardella
OBJECTIVES: Myotonia is a clinical sign typical of a group of skeletal muscle channelopathies, the non-dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic variants in known causative genes (CLCN1 and SCN4A). Juvenile Myoclonic Epilepsy (JME) is an epileptic syndrome identified as idiopathic generalized epilepsy, its genetics is complex and still unclarified. The co-occurrence of these two phenotypes is rare and the causes likely have a genetic background...
March 27, 2024: Epilepsia Open
https://read.qxmd.com/read/38540991/is-there-a-place-for-apheresis-in-the-management-of-idiopathic-membranous-nephropathy-a-report-of-three-cases-and-literature-review
#22
JOURNAL ARTICLE
Hamza Naciri Bennani, Augustin Twite Banza, Diane Giovannini, Lionel Motte, Johan Noble, Alexandra Corbu, Paolo Malvezzi, Thomas Jouve, Lionel Rostaing
Membranous nephropathy constitutes approximately 20% of adult nephrotic syndrome cases. In approximately 80% of cases, membranous nephropathy is primary, mediated by IgG autoantibodies primarily targeting podocyte antigens (PLA2R, THSD7A, etc.). The treatment involves a combination of corticosteroids and cyclophosphamide or anti-CD20-based therapies, e.g., rituximab. In the event of significant proteinuria and in order to avoid the urinary elimination of rituximab, therapeutic apheresis, in particular semi-specific immunoadsorption, may be an option allowing for a reduction in proteinuria and autoantibodies before initiating treatment with rituximab...
February 26, 2024: Journal of Personalized Medicine
https://read.qxmd.com/read/38537043/choroidal-macrovascular-and-capillary-alterations-in-eyes-with-idiopathic-epiretinal-membranes
#23
JOURNAL ARTICLE
Ahmet M Hondur, Yavuz Kemal Aribas
PURPOSE: To evaluate the choroidal vascular alterations and effect of surgical treatment in the setting of idiopathic epiretinal membranes. METHODS: The structure of the choroid was studied in 33 patients with unilateral idiopathic epiretinal membrane using optical coherence tomography with enhanced depth imaging and optical coherence tomography angiography. Eyes with epiretinal membrane underwent 25-gauge vitrectomy with epiretinal membrane and internal limiting membrane peeling...
2024: Arquivos Brasileiros de Oftalmologia
https://read.qxmd.com/read/38535759/angioid-streaks-remain-a-challenge-in-diagnosis-management-and-treatment
#24
REVIEW
Georgios Tsokolas, Charalambos Tossounis, Straton Tyradellis, Lorenzo Motta, Georgios D Panos, Theo Empeslidis
Aim : Angioid streaks (ASs) are a rare retinal condition and compromise visual acuity when complicated with choroidal neovascularization (CNV). They represent crack-like dehiscences at the level of the Bruch's membrane. This objective narrative review aims to provide an overview of pathophysiology, current treatment modalities, and future perspectives on this condition. Materials and Methods : A literature search was performed using "PubMed", "Web of Science", "Scopus", "ScienceDirect", "Google Scholar", "medRxiv", and "bioRxiv...
March 5, 2024: Vision
https://read.qxmd.com/read/38530449/choroidal-hypertransmission-width-on-optical-coherence-tomography-a-prognostic-biomarker-in-idiopathic-macular-hole-surgery
#25
JOURNAL ARTICLE
Micol Alkabes, Alessandro Rabiolo, Andrea Govetto, Paolo Fogagnolo, Stefano Ranno, Mattia Marchetti, Filippo Frerio, Davide Wild, Valentina Gatti, Andrea Muraca, Stefano De Cillà
PURPOSE: To test the hypothesis that optical coherence tomography (OCT) choroidal hypertransmission width (CHW) is a prognostic biomarker in idiopathic macular hole (MH) surgery METHODS: Retrospective cohort study of consecutive patients undergoing successful pars plana vitrectomy for idiopathic MH. We collected demographic, clinical, and OCT variables at the preoperative and last available visits. Two investigators assessed the following OCT parameters: MH minimum diameter, base diameter, CHW, ellipsoid zone, and external limiting membrane status (absent vs...
March 26, 2024: Graefe's Archive for Clinical and Experimental Ophthalmology
https://read.qxmd.com/read/38524629/prediction-of-immunotherapy-response-in-idiopathic-membranous-nephropathy-using-deep-learning-pathological-and-clinical-factors
#26
JOURNAL ARTICLE
Xuejiao Wei, Mengtuan Long, Zhongyu Fan, Yue Hou, Xiaoyu Zhu, Zhihui Qu, Yujun Du
BACKGROUND: Owing to individual heterogeneity, patients with idiopathic membranous nephropathy (IMN) exhibit varying sensitivities to immunotherapy. This study aimed to establish and validate a model incorporating pathological and clinical features using deep learning training to evaluate the response of patients with IMN to immunosuppressive therapy. METHODS: The 291 patients were randomly categorized into training (n = 219) and validation (n = 72) cohorts. Patch-level convolutional neural network training in a weakly supervised manner was utilized to analyze whole-slide histopathological features...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38511675/the-diversity-of-peripheral-blood-t-cells-and-myeloid-derived-suppressor-cells-in-patients-with-idiopathic-membranous-nephropathy
#27
JOURNAL ARTICLE
Xiaohu Shi, Mingqiang Zhang, Gangan Wang, Gang Chen, Rongrong Hu, Xuewang Lee, Xuemei Li
OBJECTIVE: Membranous nephropathy is a leading cause of adult-onset nephrotic syndrome. Peripheral T cells and myeloid-derived suppressor cells (MDSCs) are closely associated with autoimmune diseases, while their exact roles and interaction in these processes are unclear. Here, we studied the roles of T cells, MDSCs, and their subsets in patients with idiopathic membranous nephropathy (IMN). MATERIALS AND METHODS: 35 IMN patients and 30 healthy controls were included in this retrospective study...
March 21, 2024: Clinical Nephrology
https://read.qxmd.com/read/38509172/optical-coherence-tomography-parameters-as-prognostic-factors-for-stereopsis-after-vitrectomy-for-unilateral-epiretinal-membrane-a-cohort-study
#28
JOURNAL ARTICLE
Simei Shen, Siyan Jin, Fuqiang Li, Jinsong Zhao
This retrospective cohort study explored the relationship between monocular and interocular optical coherence tomography (OCT) parameters and stereopsis in 56 patients undergoing pars plana vitrectomy (PPV) for unilateral idiopathic epiretinal membrane (IERM). IERM impairs visual functions, with symptoms ranging from asymptomatic to severe impairment. Despite established surgical interventions, including PPV with membrane peeling, the impact on advanced three-dimensional visual functions such as stereopsis remains inadequately investigated...
March 20, 2024: Scientific Reports
https://read.qxmd.com/read/38502921/a-classification-of-idiopathic-epiretinal-membrane-based-on-foveal-avascular-zone-area-using-optical-coherence-tomography-angiography
#29
JOURNAL ARTICLE
Zhengxi Zhang, Jianbo Mao, Jimeng Lao, Xinyi Deng, Yuyan Fang, Nuo Chen, Chenyi Liu, Yiqi Chen, Lijun Shen
OBJECTIVE: To evaluate the characteristics and prognoses of idiopathic macular epiretinal membrane (iERM) using a classification based on the foveal avascular zone (FAZ) area. METHOD: IERMs were classified into four stages based on the FAZ area. Baseline FAZ-related parameters, pre-and postoperative central macular thickness (CMT), and best corrected visual acuity (BCVA) were observed and compared between different stages. The correlations of structural parameters with pre-and postoperative logMAR BCVA were analyzed...
December 2024: Annals of Medicine
https://read.qxmd.com/read/38494281/paraneoplastic-neuropathies-and-peripheral-nerve-hyperexcitability-disorders
#30
REVIEW
Shahar Shelly, Divyanshu Dubey, John R Mills, Christopher J Klein
Peripheral neuropathy is a common referral for patients to the neurologic clinics. Paraneoplastic neuropathies account for a small but high morbidity and mortality subgroup. Symptoms include weakness, sensory loss, sweating irregularity, blood pressure instability, severe constipation, and neuropathic pain. Neuropathy is the first presenting symptom of malignancy among many patients. The molecular and cellular oncogenic immune targets reside within cell bodies, axons, cytoplasms, or surface membranes of neural tissues...
2024: Handbook of Clinical Neurology
https://read.qxmd.com/read/38493781/comparative-evaluation-of-visual-outcomes-in-combined-cataract-and-vitrectomy-for-idiopathic-epiretinal-membrane-with-an-advanced-or-conventional-intraocular-lens
#31
JOURNAL ARTICLE
Se Hyun Choi, In Hwan Cho, Gang Seok Jeon, In Boem Chang, Dae Joong Ma, In Hwan Hong
INTRODUCTION: To investigate the efficacy of new monofocal intraocular lens (IOL) in comparison with conventional monofocal IOL in patients undergoing combined cataract and vitrectomy surgery for epiretinal membrane (ERM). METHODS: This prospective non-randomized comparative study included 65 eyes of 65 patients who underwent combined cataract and vitrectomy for ERM with implantation of advanced monofocal IOL (Eyhance ICB00, 33 patients) and standard monofocal IOL (Tecnis ZCB00, 32 patients)...
March 17, 2024: Ophthalmic Research
https://read.qxmd.com/read/38493269/comparison-of-the-use-of-internal-limiting-membrane-flaps-versus-conventional-ilm-peeling-on-post-operative-anatomical-and-visual-outcomes-in-large-macular-holes
#32
JOURNAL ARTICLE
George Riding, Boon Lin Teh, David Yorston, David H Steel
BACKGROUND: Idiopathic full-thickness macular hole (iFTMH) closure rates following conventional vitrectomy, gas tamponade and internal limiting membrane (ILM) peeling decrease when the minimum linear diameter (MLD) ≥ 500 microns. ILM flap creation has been proposed to improve closure in larger holes. This study evaluated the anatomical and functional impact of ILM flap introduction to routine practice in iFTMH ≥500 microns. METHODS: Retrospective, interventional analysis of prospectively collected data of 191 eyes from consecutive surgeries for primary iFTMH ≥500 microns performed by two surgeons between June 2018 and June 2022, during which both surgeons replaced ILM peeling with ILM flap creation...
March 16, 2024: Eye
https://read.qxmd.com/read/38491368/effect-of-topical-bromfenac-on-intraretinal-cystoid-lesion-in-simultaneous-cataract-and-idiopathic-epiretinal-membrane-surgery
#33
JOURNAL ARTICLE
EunAh Kim, Han Jo Kwon, Sung Who Park, Iksoo Byon
PURPOSE: To investigate the effect of topical nonsteroidal anti-inflammatory drugs (NSAIDs,) bromfenac on the intraretinal cystic lesions (IRC) when performing simultaneous cataract and idiopathic epiretinal membrane (iERM) surgery. METHODS: This study included patients with iERM who had been followed up for 6 months after vitrectomy, membrane removal, and concurrent cataract surgery. Eyes were treated with topical bromfenac or not. The baseline fluorescein angiography (FA) was obtained to assess the microvascular leakage (ML)...
March 15, 2024: BMC Ophthalmology
https://read.qxmd.com/read/38472948/a-case-of-castleman-s-disease-with-a-marked-infiltration-of-igg4-positive-cells-in-the-renal-interstitium
#34
Erika Sawada, Yuya Shioda, Kohki Ogawa, Takatsugu Iwashita, Yuko Ono, Hajime Hasegawa, Akito Maeshima
Multicentric Castleman's disease (MCD) is a benign lymphoproliferative disorder with heterogenous clinical symptoms, and involves systemic organs in addition to lymph nodes. Herein, we present the case of a 55-year-old man with MCD characterized by an extensive infiltration of IgG4+ plasma cells in the kidneys. The patient presented to our hospital with a high fever and diarrhea. On admission, laboratory analysis revealed anemia, renal dysfunction (eGFR 30 mL/min/1.73 m2 ), polyclonal gammopathy (IgG 7130 mg/dL), elevated serum IgG4 level (2130 mg/dL), and increased C-reactive protein (8...
February 23, 2024: Diagnostics
https://read.qxmd.com/read/38467875/imbalance-of-t%C3%A2-follicular-helper-cell-subsets-trigger-the-differentiation-of-pathogenic-b-cells-in-idiopathic-membranous-nephropathy
#35
JOURNAL ARTICLE
Bishun Deng, Huijie Huang, Li Deng, Ziling Zhao, Miao Liu, Haibiao Lin, Xiaowan Wang, Ruimin Tian, Xiaoxin Tu, Anping Peng, Enyu Liang, Kun Bao, Yuting Zhou, Peng Xu, Min He
OBJECTIVE: This study aims to elucidate the role of T follicular helper (Tfh) cells and their subsets in idiopathic membranous nephropathy (IMN). METHODS: The frequencies of Tfh cell subsets and B cell subsets in peripheral blood (PB) were detected in both IMN patients and healthy controls (HCs). The involvement of Tfh cells in the disease pathogenesis was examined by coculturing human Tfh cells with B cells. The dynamic changes of Tfh cells in PB or spleen were monitored in passive Heymann nephritis (PHN) rats...
March 11, 2024: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://read.qxmd.com/read/38466306/beating-heart-transplant-procedures-using-organs-from-donors-with-circulatory-death
#36
JOURNAL ARTICLE
Aravind Krishnan, Chawannuch Ruaengsri, Brandon A Guenthart, Yasuhiro Shudo, Hanjay Wang, Michael R Ma, John Ward MacArthur, William Hiesinger, Y Joseph Woo
IMPORTANCE: The use of ex vivo normothermic organ perfusion has enabled the use of deceased after circulatory death (DCD) donors for heart transplants. However, compared with conventional brain death donation, DCD heart transplantation performed with ex vivo organ perfusion involves an additional period of warm and cold ischemia, exposing the allograft to multiple bouts of ischemia reperfusion injury and may contribute to the high rates of extracorporeal membrane oxygenation usage after DCD heart transplantation...
March 4, 2024: JAMA Network Open
https://read.qxmd.com/read/38465349/subfoveal-choroidal-neovascular-membrane-secondary-to-idiopathic-intracranial-hypertension
#37
Austin Pereira, Prem A H Nichani, Peng Yan, Jonathan A Micieli
Purpose: To present a rare case of subfoveal choroidal neovascular membrane (CNVM) secondary to idiopathic intracranial hypertension. Methods: A case was evaluated. Results: A 21-year-old woman presented with a 2-week history of painless blurred vision in the right eye. She described initial metamorphopsia and intermittent bitemporal headaches lasting 30 minutes. She denied pain with eye movements and a history of trauma. Her body mass index was 49 kg/m2 . The visual acuity (VA) was 20/320 OD and 20/20 OS; there was no relative afferent pupillary defect...
2024: Journal of Vitreoretinal Diseases
https://read.qxmd.com/read/38462633/the-glymphatic-system-in-migraine-and-other-headaches
#38
REVIEW
Maria Grazia Vittorini, Aysenur Sahin, Antonin Trojan, Sevil Yusifli, Tamta Alashvili, Gonçalo V Bonifácio, Ketevan Paposhvili, Viktoria Tischler, Christian Lampl, Simona Sacco
Glymphatic system is an emerging pathway of removing metabolic waste products and toxic solutes from the brain tissue. It is made of a network of perivascular spaces, filled in cerebrospinal and interstitial fluid, encompassing penetrating and pial vessels and communicating with the subarachnoid space. It is separated from vessels by the blood brain barrier and from brain tissue by the endfeet of the astrocytes rich in aquaporin 4, a membrane protein which controls the water flow along the perivascular space...
March 11, 2024: Journal of Headache and Pain
https://read.qxmd.com/read/38462373/-changes-in-octa-related-parameters-and-their-impact-on-retinal-sensitivity-after-ilm-flap-inversion-surgery-in-patients-with-imh
#39
JOURNAL ARTICLE
Y Gao, J Li, W J Wang, X D Zhang, J J Wang, L L Yuan, G H Zhou
Objective: To analyze the changes in optical coherence tomography angiography(OCTA)-related parameters before and after idiopathic macular hole (IMH) internal limiting membrane (ILM) flap inversion surgery and assess their impact on retinal sensitivity. Methods: A retrospective case series study was conducted, collecting clinical data of 30 patients (30 eyes) diagnosed with IMH who underwent vitrectomy combined with ILM flap inversion surgery at Shanxi Eye Hospital, affiliated with Shanxi Medical University, between January 2020 and December 2021...
March 11, 2024: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://read.qxmd.com/read/38462372/-clinical-observation-of-the-intraocular-distribution-characteristics-of-indocyanine-green-after-epiretinal-membrane-peeling-using-a-fluorescence-detection-system-developed-in-python
#40
JOURNAL ARTICLE
Y Zhang, K R Zhang, S Gao, M X Zhang
Objective: To utilize a Python-based fluorescence area detection system to observe and quantitatively analyze the intraocular distribution characteristics and metabolic patterns of Indocyanine Green (ICG) following epiretinal membrane peeling. Methods: A prospective case series study was conducted on patients with idiopathic epiretinal membrane undergoing vitrectomy at West China Hospital of Sichuan University from March 2019 to March 2021. ICG staining was applied during surgery for peeling the epiretinal membrane and internal limiting membrane...
March 11, 2024: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
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