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Frontiers in Medicine

Hong Tao Zhu, Mireguli Maimaiti, Chen Cao, Yan Fei Luo, Delihuma Julaiti, Lin Liang, Aizezi Abudureheman
Objective: Pierson syndrome (OMIM 609049) is a rare autosomal recessive disorder characterized by congenital nephrotic syndrome and complex ocular abnormalities. Severe renal symptoms had be associated with truncating mutations. Few Chinese patients from diverse ethnic background had been evaluated and reported with this syndrome. Here we report the first Uyghur patient with typical Pierson syndrome phenotypes and a novel pathogenic homozygous variant in LAMB2 gene. Method: A thirty-nine-day old Uyghur girl was born to consanguineous parents, the girl presented with general edema, severe hypotonia and bilateral microcoria...
2019: Frontiers in Medicine
Roberto Gramignoli, Fabio Sallustio, Darius Widera, Nathanael Raschzok
No abstract text is available yet for this article.
2019: Frontiers in Medicine
Elisa Rossi, Carmelo Bernabeu, David M Smadja
Endoglin (ENG) is a transmembrane glycoprotein expressed on endothelial cells that functions as a co-receptor for several ligands of the transforming growth factor beta (TGF-β) family. ENG is also a recognized marker of angiogenesis and mutations in the endoglin gene are responsible for Hereditary Hemorrhagic Telangiectasia (HHT) type 1, a vascular disease characterized by defective angiogenesis, arteriovenous malformations, telangiectasia, and epistaxis. In addition to its involvement in the TGF-β family signaling pathways, several lines of evidence suggest that the extracellular domain of ENG has a role in integrin-mediated cell adhesion via its RGD motif...
2019: Frontiers in Medicine
Ursula Quitterer, Said AbdAlla
The family of G-protein-coupled receptors (GPCRs) is one of the most important drug targets. Mechanisms underlying GPCR activation and signaling are therefore of great pharmacologic interest. It was long thought that GPCRs exist and function as monomers. This feature was considered to distinguish GPCRs from other membrane receptors such as receptor tyrosine kinases or cytokine receptors, which signal from dimeric receptor complexes. But during the last two decades it was increasingly recognized that GPCRs can undergo aggregation to form dimers and higher order oligomers, resulting in homomeric and/or heteromeric protein complexes with different stoichiometries...
2019: Frontiers in Medicine
Marcel Wittenberg, Margitta Worm
Mucous membrane pemphigoid (MMP) is a rare autoimmune bullous disease of the mucous membranes, which can cause irreversible scarring and is discussed to be associated with cancer, if laminin-332-autoantibodies are present. MMP with severe ocular and laryngeal involvement is difficult to treat and can be treatment-refractory to conventional immunosuppressant therapy. A 67-year-old man with a history of prostate cancer presented to our clinic with sore throat, intraoral bullae, odynophagia, dysphonia, exertional dyspnea, and erosions of the glans penis...
2019: Frontiers in Medicine
Fatma Jendoubi, Manfred Rohde, Jörg Christoph Prinz
Erysipelas is a severe streptococcal infection of the skin primarily spreading through the lymphatic vessels. Penicillin is the treatment of choice. The most common complication consists in relapses which occur in up to 40% or more of patients despite appropriate antibiotic treatment. They cause lymphatic damage resulting in irreversible lymphedema and ultimately elephantiasis nostras and lead to major health restrictions and high socio-medical costs. Prevention of relapses is an unmet need, because even long-term prophylactic penicillin application does eventually not reduce the risk of recurrence...
2019: Frontiers in Medicine
Sam Donche, Jeroen Verhoeven, Benedicte Descamps, Julie Bolcaen, Karel Deblaere, Tom Boterberg, Caroline Van den Broecke, Christian Vanhove, Ingeborg Goethals
Glioblastoma is the most aggressive and malignant primary brain tumor in adults. Despite the current state-of-the-art treatment, which consists of maximal surgical resection followed by radiation therapy, concomitant, and adjuvant chemotherapy, progression remains rapid due to aggressive tumor characteristics. Several new therapeutic targets have been investigated using chemotherapeutics and targeted molecular drugs, however, the intrinsic resistance to induced cell death of brain cells impede the effectiveness of systemic therapies...
2019: Frontiers in Medicine
Frances C Humby
Synovial biopsies are performed in routine clinical care in order to refine diagnosis as well as within a research setting. Progress in the development of minimally invasive synovial sampling methods in the last century has accelerated and facilitated novel insights into disease pathogenesis. This review discusses the development of synovial biopsy techniques as well as examining the three currently most commonly used approaches: arthroscopic, blind needle biopsy and ultrasound guided approaches. It also highlights major research advances driven through synovial research and considers future developments...
2019: Frontiers in Medicine
Aphrodite Kapurniotu, Ozgun Gokce, Jürgen Bernhagen
When the human genome was sequenced, it came as a surprise that it contains "only" 21,306 protein-coding genes. However, complexity and diversity are multiplied by alternative splicing, non-protein-coding transcripts, or post-translational modifications (PTMs) on proteome level. Here, we discuss how the multi-tasking potential of proteins can substantially enhance the complexity of the proteome further, while at the same time offering mechanisms for the fine-regulation of cell responses. Discoveries over the past two decades have led to the identification of "surprising" and previously unrecognized functionalities of long known cytokines, inflammatory mediators, and intracellular proteins that have established novel molecular networks in physiology, inflammation, and cardiovascular disease...
2019: Frontiers in Medicine
Laurent Meric De Bellefon, Ilias Lazarou
Gathering synovial tissue from any swollen joint especially in early arthritis patients is critical for good quality research and to obtain further insight into the pathophysiology of inflammatory joint diseases. Multiplying biopsy sites is a challenge in terms of the techniques needed for each different joint but also in terms of safety and tolerability. It is important to provide the best care especially in very early arthritis patients who have only had the disease for a few months. This review discusses the minimal requirements applying to antiseptic techniques for the operator's hands, patient preparation, local anesthesia, and post-procedure care...
2019: Frontiers in Medicine
Ilias Lazarou, Stephen Gerard Kelly, Laurent Meric de Bellefon
Ultrasound-guided synovial biopsy (UGSB) is a minimally-invasive procedure which allows quality synovial tissue retrieval. In this article, we will discuss overarching principles of the procedure performed in wrists, metacarpophalangeal (MCP), metatarsophalangeal (MTP), interphalangeal joints (IP), and tendon sheaths, including basic sonoanatomy, entry site and biopsy technique, as well as special considerations for each structure whenever relevant.
2019: Frontiers in Medicine
Irina Condrat, Yinghong He, Rodica Cosgarea, Cristina Has
Junctional epidermolysis bullosa (JEB) is a hereditary blistering disease caused by reduced dermal-epidermal adhesion due to deficiencies of one of the proteins, laminin-332, type XVII collagen, integrin α6β4 or integrin α3. Significant progress has been achieved in the development of therapies for EB, such as bone-marrow transplantation, local or systemic injections with fibroblasts or mesenchymal stromal cells, readthrough of premature termination codons, or exon skipping. These were tailored in particular for dystrophic EB, which is caused by type VII collagen deficiency and have not yet reached broad clinical practice...
2018: Frontiers in Medicine
Eyasu Ejeta, Regea Dabsu
Background: Hepatitis C virus (HCV) and HIV infection remain a major public health challenge in Sub-Saharan Africa. The HCV and HIV infection among pregnant women have a serious outcome on maternal and newborn health. There is limited information in this regards in West part of Ethiopia. This study aims to identify the sero- prevalence and predictor factors of HCV and HIV infection among pregnant women attending antenatal care (ANC) in Western Ethiopia. Methods: An institutional based cross-sectional study was conducted from July to September, 2014 among 421 pregnant women's attending ANC services in purposively selected health facilities of western Ethiopia...
2018: Frontiers in Medicine
Zaira Palomino Jara, Marcelo Yudi Icimoto, Rodrigo Yokota, Amanda Aparecida Ribeiro, Fernando Dos Santos, Leandro Ezequiel de Souza, Ingrid Kazue Mizuno Watanabe, Maria do Carmo Franco, Jorge Luiz Pesquero, Maria Claudia Irigoyen, Dulce Elena Casarini
Background: Tonin, a serine-protease that forms Angiotensin II (AngII) from angiotensinogen, is increased in failing human heart samples. Increased blood pressure (BP) and decreased heart rate (HR) variabilities are associated with higher risk of cardiovascular morbidity. Losartan has been used to reduce hypertension and, therefore, lowers the risk of fatal and non-fatal cardiovascular events. Determination of tonin's impact on BP and HR variabilities as well as the impact of losartan remain questions to be elucidated...
2018: Frontiers in Medicine
Marie Robert, Pierre Miossec
Interleukin (IL)-17A has a direct contribution in early induction and late chronic stages of various inflammatory diseases. In vitro and in vivo experiments have first characterized its local effects on different cell types and then its systemic effects. For instance, IL-17 axis is now identified as a key driver of psoriasis through its effects on keratinocytes. Similar observations apply for rheumatoid arthritis (RA) where IL-17A triggers changes in the synovium that lead to synovitis and maintain local inflammation...
2018: Frontiers in Medicine
Lisa A Hensch, Shiu-Ki Rocky Hui, Jun Teruya
Extracorporeal membrane oxygenation (ECMO) is a life-saving procedure that requires careful coagulation management. Indications for ECMO continue to expand, leading to more complicated patients treated by ECMO teams. At our pediatric institution, we utilize a Coagulation Team to guide anticoagulation, transfusion and hemostasis management in an effort to avoid the all-to-common complications of bleeding and thrombosis. This team formulates a coagulation plan in conjunction with a multidisciplinary ECMO team after careful review of all available laboratory data as well as the patient's clinical status...
2018: Frontiers in Medicine
Hiroshi Koga, Catherine Prost-Squarcioni, Hiroaki Iwata, Marcel F Jonkman, Ralf J Ludwig, Katja Bieber
Epidermolysis bullosa acquisita (EBA) is an orphan autoimmune disease. Patients with EBA suffer from chronic inflammation as well as blistering and scarring of the skin and mucous membranes. Current treatment options rely on non-specific immunosuppression, which in many cases, does not lead to a remission of treatment. Hence, novel treatment options are urgently needed for the care of EBA patients. During the past decade, decisive clinical observations, and frequent use of pre-clinical model systems have tremendously increased our understanding of EBA pathogenesis...
2018: Frontiers in Medicine
Walter Jeske, Ahmed Kouta, Ambar Farooqui, Fakiha Siddiqui, Varun Rangnekar, Manoj Niverthi, Rajan Laddu, Debra Hoppensteadt, Omer Iqbal, Jeanine Walenga, Jawed Fareed
Introduction: Bovine mucosal heparins (BMH) are currently being developed for re-introduction for both medical and surgical indications. BMH active pharmaceutical ingredient (API) exhibits a somewhat weaker USP potency when compared to PMHs. We hypothesized that when dosages are normalized based on the USP reference heparin, BMH will exhibit comparable in vitro and in vivo effects to those produced by PMH. Therefore, studies were developed to compare the APIs of bovine and porcine heparin. Materials and Methods: API versions of PMH were obtained from Celsus Laboratories (Franklin, OH) and Medefil (Glen Ellen, IL)...
2018: Frontiers in Medicine
Stefan Wolf, Joshua Abd Alla, Ursula Quitterer
Inhibition of the G-protein-coupled receptor kinase 2 (GRK2) is an emerging treatment approach for heart failure. Therefore, cardio-protective mechanisms induced by GRK2 inhibition are under investigation. We compared two different GRK2 inhibitors, i.e., (i) the dual-specific GRK2 and raf kinase inhibitor protein, RKIP, and (ii) the dominant-negative GRK2-K220R mutant. We found that RKIP induced a strong sensitization of Gq/11-dependent, heart failure-promoting angiotensin II AT1 receptor signaling. The AT1-sensitizing function of RKIP was mediated by the RKIP-GRK2 interaction because the RKIP-S153V mutant, which does not interact with GRK2, had no effect on AT1-stimulated signaling...
2018: Frontiers in Medicine
Christine Lock, Janell Kwok, Sumeet Kumar, Azlina Ahmad-Annuar, Vairavan Narayanan, Adeline S L Ng, Yi Jayne Tan, Nagaendran Kandiah, Eng-King Tan, Zofia Czosnyka, Marek Czosnyka, John D Pickard, Nicole C Keong
Normal pressure hydrocephalus (NPH) is a syndrome comprising gait disturbance, cognitive decline and urinary incontinence that is an unique model of reversible brain injury, but it presents as a challenging spectrum of disease cohorts. Diffusion Tensor Imaging (DTI), with its ability to interrogate structural white matter patterns at a microarchitectural level, is a potentially useful tool for the confirmation and characterization of disease cohorts at the clinical-research interface. However, obstacles to its widespread use involve the need for consistent DTI analysis and interpretation tools across collaborator sites...
2018: Frontiers in Medicine
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