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https://www.readbyqxmd.com/read/29925096/inhibitors-in-hemophilia-b
#1
Cristina Santoro, Gabriele Quintavalle, Giancarlo Castaman, Erminia Baldacci, Antonietta Ferretti, Federica Riccardi, Annarita Tagliaferri
Hemophilia B (HB) is an X-linked bleeding disorder caused by deficiency of factor IX (FIX). Patients with the severe form (FIX <1%) account approximately for 30 to 45% of persons with HB and usually suffer from recurrent joint, soft-tissue, and muscle bleeds. The availability of safe plasma-derived and recombinant products has virtually abolished the risk of viral infections and the adoption of prophylactic regimens has attenuated the impact of hemophilic arthropathy. Therefore, the development of an inhibitor against FIX is currently the most serious complication that can still occur in the new generations of HB patients...
June 20, 2018: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/29924878/chiari-i-malformation-and-basilar-invagination-in-fibrous-dysplasia-prevalence-mechanisms-and-clinical-implications
#2
Kristen S Pan, John D Heiss, Sydney M Brown, Michael T Collins, Alison M Boyce
Fibrous dysplasia (FD) is a mosaic disorder of benign fibro-osseous lesions, which may be associated with extraskeletal features as part of McCune-Albright syndrome (MAS). Cranial base abnormalities, including Chiari I malformation (CM1), in which the cerebellum extends below the foramen magnum, and secondary basilar invagination (BI), in which the odontoid prolapses into the posterior cranial fossa, are potentially serious complications of metabolic bone disorders. The purpose of this study was to determine the prevalence, natural history, and risk factors for CM1 and BI in patients with FD/MAS, and to determine mechanisms of cranial base deformities...
June 20, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29924459/clinical-biochemical-and-pathophysiological-analysis-of-slc34a1-mutations
#3
Amy Fearn, Benjamin Allison, Sarah J Rice, Noel Edwards, Jan Halbritter, Soline Bourgeois, Eva M Pastor-Arroyo, Friedhelm Hildebrandt, Velibor Tasic, Carsten A Wagner, Nati Hernando, John A Sayer, Andreas Werner
Mutations in SLC34A1, encoding the proximal tubular sodium-phosphate transporter NaPi-IIa, may cause a range of clinical phenotypes including infantile hypercalcemia, a proximal renal Fanconi syndrome, which are typically autosomal recessive, and hypophosphatemic nephrolithiasis, which may be an autosomal dominant trait. Here, we report two patients with mixed clinical phenotypes, both with metabolic acidosis, hyperphosphaturia, and renal stones. Patient A had a single heterozygous pathogenic missense mutation (p...
June 2018: Physiological Reports
https://www.readbyqxmd.com/read/29924455/igg4-related-disease-review-of-the-histopathologic-features-differential-diagnosis-and-therapeutic-approach
#4
REVIEW
Jacob R Bledsoe, Emanuel Della-Torre, Lucrezia Rovati, Vikram Deshpande
Immunoglobulin G4-related disease (IgG4-RD) is an uncommon disorder that demonstrates characteristic clinicopathologic features including sclerosing lesions with storiform fibrosis, increased IgG4+ plasma cells with an increased IgG4+/IgG+ plasma cell ratio, obliterative phlebitis, and often an increased serum IgG4 level. This review summarizes the characteristic histopathologic and clinical features of IgG4-RD with detailed discussion of the histopathologic characteristics of the most commonly involved anatomic sites...
June 2018: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/29924302/role-of-proteoglycans-and-glycosaminoglycans-in-duchenne-muscular-dystrophy
#5
Laurino Carmen, Vadala Maria, Julio Cesar Morales-Medina, Annamaria Vallelunga, Beniamino Palmieri, Tommaso Iannitti
Duchenne Muscular dystrophy (DMD) is an inherited fatal X-linked myogenic disorder with a prevalence of 1 in 3500 male live births. It affects voluntary muscles, and heart and breathing muscles. DMD is characterised by continuous degeneration and regeneration cycles resulting in extensive fibrosis and a progressive reduction in muscle mass. Since the identification of a reduction in dystrophin protein as the cause of this disorder, numerous innovative and experimental therapies, focusing on increasing the levels of dystrophin, have been proposed, but the clinical improvement has been unsatisfactory...
June 19, 2018: Glycobiology
https://www.readbyqxmd.com/read/29924299/the-rasopathy-family-consequences-of-germline-activation-of-the-ras-mapk-pathway
#6
Mylène Tajan, Romain Paccoud, Sophie Branka, Thomas Edouard, Armelle Yart
Noonan syndrome (NS; Mendelian Inheritance in Men (MIM) ♯163950) and related syndromes (Noonan syndrome with multiple lentigines (NS-ML, formerly called LEOPARD syndrome; MIM ♯151100), Noonan-like syndrome with loose anagen hair (NS-LAH; MIM ♯607721), Costello syndrome (CS; MIM ♯218040), Cardio-Facio-Cutaneous syndrome (CFCS; MIM ♯115150), type I Neurofibromatosis (NF1; MIM ♯162200), and Legius syndrome (LS; MIM ♯611431)) are a group of related genetic disorders, associating distinctive facial features, cardiopathies, growth and skeletal abnormalities, developmental delay/mental retardation, and tumor predisposition...
June 18, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29924253/density-of-mast-cells-and-intensity-of-pruritus-in-psoriasis-vulgaris-a-cross-sectional-study
#7
Letícia Pargendler Peres, Fabiana Bazanella Oliveira, André Cartell, Nicolle Gollo Mazzotti, Tania Ferreira Cestari
BACKGROUND: Psoriasis is a chronic and prevalent disease, and the associated pruritus is a common, difficult-to-control symptom. The mediators involved in psoriatic pruritus have not been fully established. OBJECTIVE: To evaluate associations between the number of mast cells in psoriatic lesions and the intensity of pruritus. METHODS: 29 patients with plaque psoriasis were recruited. In all participants, Psoriasis Area and Severity Index and Body Surface Area were assessed...
June 2018: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29923900/evaluating-a-surfactant-containing-polymeric-membrane-foam-wound-dressing-with-glycerin-in-patients-with-chronic-pilonidal-sinus-disease
#8
R Gary Sibbald, Reneeka Persaud Jaimangal, Patricia M Coutts, James A Elliott
GENERAL PURPOSE: To present an evaluation of a surfactant-containing polymeric membrane foam wound dressing for use on patients with chronic pilonidal sinus disease. TARGET AUDIENCE: This continuing education activity is intended for physicians, physician assistants, nurse practitioners, and nurses with an interest in skin and wound care. LEARNING OBJECTIVES/OUTCOMES: After completing this continuing education activity, you should be able to:1...
July 2018: Advances in Skin & Wound Care
https://www.readbyqxmd.com/read/29923671/the-hypothesis-of-circulus-hypoxicus-and-its-clinical-relevance-in-patients-with-methanol-poisoning-an-observational-study-of-35-patients
#9
Elise Drangsholt, Marie Vangstad, Sergey Zakharov, Knut Erik Hovda, Dag Jacobsen
Methanol mass poisoning is a global problem with high fatality rates and often severe sequelae in survivors. Patients typically present late to the hospital with severe metabolic acidosis followed by a rapid deterioration in their clinical status. The hypothesis "Circulus hypoxicus" describes the metabolic acidosis following methanol poisoning as a self-enhancing hypoxic circle responsible for methanol toxicity. We wanted to test the validity of this hypothesis by an observational study based on 35 patients from the methanol outbreaks in Norway (2004) and the Czech Republic (2012)...
June 20, 2018: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/29923432/autoimmune-cytopenias-in-chronic-lymphocytic-leukemia-a-concise-review-and-treatment-recommendations
#10
Tim R de Back, Arnon P Kater, Sanne H Tonino
Chronic lymphocytic leukemia (CLL) is frequently complicated by cytopenias, either due to bone marrow infiltration or autoimmunity, resulting in autoimmune hemolytic anemia (AIHA), immune thrombocytopenia (ITP), pure red cell aplasia (PRCA) or autoimmune neutropenia (AIN). Morbidity due to autoimmune cytopenias (AIC) can be substantial; in addition, infection risk increases and pre-existing infections might deteriorate due to immunosuppressive medication. In the aging population, CLL occurs more frequently and AIC related to CLL represent a growing clinical challenge...
June 20, 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29923327/survival-benefit-of-sphingosin-1-phosphate-and-receptors-expressions-in-breast-cancer-patients
#11
Fu-Ju Lei, Bi-Hua Cheng, Pei-Yin Liao, Hsiao-Ching Wang, Wei-Chun Chang, Hsueh-Chou Lai, Juan-Cheng Yang, Yang-Chang Wu, Li-Ching Chu, Wen-Lung Ma
Sphingosine-1-phosphate (S1P) is a bioactive lipid that exerts various pathophysiological functions through binding to its receptor family (S1PRs). Since first report of the breast cancer (BCA) promoting function by S1P production (through the function of sphingosine kinases) and S1P/S1PR signaling, their antagonists have never been successfully progress to clinics after three decades. Taking advantage of bioinformatics linking to gene expression to disease prognosis, we examined the impact of associated genes in BCA patients...
June 20, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29923045/assessment-of-relationship-of-serum-neurokinin-b-level-in-the-pathophysiology-of-pre-eclampsia-a-case-control-study
#12
Henna Salman, Mohsin Shah, Asif Ali, Asma Aziz, Salvatore Giovanni Vitale
INTRODUCTION: Pre-eclampsia is a pregnancy-induced disorder that complicates approximately 5-7% of pregnancies. It is the leading cause of maternal and foetal morbidity and mortality worldwide. AIM: To determine the role of serum neurokinin-B level in the pathophysiology of pre-eclampsia. METHODS: This was a case-control study. A total of 80 pregnant women in their third trimester of pregnancy were included in the study. They were divided into two groups (40 pre-eclamptic and 40 normotensive) according to the presence or absence of clinical parameters of pre-eclampsia...
June 19, 2018: Advances in Therapy
https://www.readbyqxmd.com/read/29922952/sarcoidosis-of-the-central-nervous-system-clinical-features-imaging-and-csf-results
#13
Desmond P Kidd
OBJECTIVE: Neurological complications of systemic sarcoidosis are uncommon and the natural history and optimal treatments under-researched. With the advent of modern biological therapies, it is important to define the clinical characteristics and immunopathology of the disease. METHODS: Patients referred to and treated within the Centre for Neurosarcoidosis over a 15 year period who had biopsy-proven "highly probable" disease of the central nervous system were studied prospectively...
June 19, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29922880/the-effect-of-cessation-of-2nd-generation-p-2-y-12-inhibitor-therapy-on-platelet-reactivity-in-patients-1-year-after-acute-myocardial-infarction
#14
Guy Witberg, Jalal Bathish, Tamir Bental, Dorit Leshem-Lev, Abid Assali, Ran Kornowski, Eli Lev
To assess the effect of cessation of dual antiplatelet therapy (DAPT) regimens containing 2nd generation P2 Y12 inhibitors on platelet reactivity, in patients who completed 12 months of DAPT following an acute myocardial infarction. Clinical data has shown an increased cardiovascular risk in the 90 days following cessation of DAPT. One possible explanation is a transient platelet hyper-reactivity after cessation of treatment. Data from patients treated with 2nd generation P2 Y12 inhibitors is scarce. Patients who completed 12 month DAPT with prasugrel/ticagrelor underwent serial assessment of platelet reactivity (on DAPT and 1, 4 and 12 weeks post cessation)...
June 19, 2018: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/29922745/first-in-human-randomized-clinical-trials-of-the-safety-and-efficacy-of-tanezumab-for-treatment-of-chronic-knee-osteoarthritis-pain-or-acute-bunionectomy-pain
#15
Patricia A Walicke, Franz Hefti, Roxanne Bales, Shiao-Ping Lu, Jon L Ruckle, Mark T Brown, Christine R West, David L Shelton
Introduction: The neurotrophin nerve growth factor has a demonstrated role in pain transduction and pathophysiology. Objectives: Two randomized, double-blind, placebo-controlled, phase 1 studies were conducted to evaluate safety, tolerability, and analgesic efficacy of single doses of tanezumab, a humanized anti-nerve growth factor monoclonal antibody, in chronic or acute pain. Methods: In the first study (CL001), patients with moderate to severe pain from osteoarthritis (OA) of the knee received a single intravenous infusion of tanezumab (3-1000 μg/kg) or placebo in a dose-escalation (part 1; N = 42) or parallel-arm (part 2; N = 79) study design...
May 2018: Pain Reports (Baltimore, Md.)
https://www.readbyqxmd.com/read/29922225/anti-m%C3%A3-llerian-hormone-and-testicular-function-in-prepubertal-boys-with-cryptorchidism
#16
Romina P Grinspon, Silvia Gottlieb, Patricia Bedecarrás, Rodolfo A Rey
Introduction: The functional capacity of the testes in prepubertal boys with cryptorchidism before treatment has received very little attention. The assessment of testicular function at diagnosis could be helpful in the understanding of the pathophysiology of cryptorchidism and in the evaluation of the effect of treatment. Anti-Müllerian hormone is a well-accepted Sertoli cell biomarker to evaluate testicular function during childhood without the need for stimulation tests. Objective: The aim of the study was to assess testicular function in prepubertal children with cryptorchidism before orchiopexy, by determining serum anti-Müllerian hormone (AMH)...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29922224/neuroendocrine-abnormalities-following-traumatic-brain-injury-an-important-contributor-to-neuropsychiatric-sequelae
#17
REVIEW
Amir M Molaie, Jamie Maguire
Neuropsychiatric symptoms following traumatic brain injury (TBI) are common and contribute negatively to TBI outcomes by reducing overall quality of life. The development of neurobehavioral sequelae, such as concentration deficits, depression, anxiety, fatigue, and loss of emotional well-being has historically been attributed to an ambiguous "post-concussive syndrome," considered secondary to frank structural injury and axonal damage. However, recent research suggests that neuroendocrine dysfunction, specifically hypopituitarism, plays an important role in the etiology of these symptoms...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29922131/adult-hippocampal-neurogenesis-regulation-and-possible-functional-and-clinical-correlates
#18
REVIEW
Pedro Baptista, José P Andrade
The formation of new neurons in the adult central nervous system (CNS) has been recognized as one of the major findings in neuroanatomical research. The hippocampal formation (HF), one of the main targets of these investigations, holds a neurogenic niche widely recognized among several mammalian species and whose existence in the human brain has sparked controversy and extensive debate. Many cellular features from this region emphasize that hippocampal neurogenesis suffers changes with normal aging and, among regulatory factors, physical exercise and chronic stress provoke opposite effects on cell proliferation, maturation and survival...
2018: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/29922073/identification-of-pgam1-as-a-putative-therapeutic-target-for-pancreatic-ductal-adenocarcinoma-metastasis-using-quantitative-proteomics
#19
Xinlu Liu, Yejing Weng, Peng Liu, Zhigang Sui, Lei Zhou, Yinpeng Huang, Lihua Zhang, Yukui Zhang, Xiaodong Tan
Background: Pancreatic ductal adenocarcinoma (PDAC) is an aggressive gastrointestinal cancer characterized by an extremely low survival rate because of early metastasis. Identifying satisfactory therapeutic targets associated with metastasis is crucial to improve the treatment effect of PDAC. Materials and methods: In this research, we used stable isotope labeling by amino acids in cell culture, 1-dodecyl-3-methylimidazolium chloride-assisted sample preparation method preparing protein sample and nano-reversed-phase liquid chromatography-mass spectrometry/mass spectrometry analysis to perform the comparative proteomics of two homologous hamster pancreatic cancer cell lines that are different in metastatic ability: PC-1...
2018: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29921647/mechanisms-and-drug-development-in-atrial-fibrillation
#20
REVIEW
David Calvo, David Filgueiras-Rama, José Jalife
Atrial fibrillation is a highly prevalent cardiac arrhythmia and the most important cause of embolic stroke. Although genetic studies have identified an increasing assembly of AF-related genes, the impact of these genetic discoveries is yet to be realized. In addition, despite more than a century of research and speculation, the molecular and cellular mechanisms underlying AF have not been established, and therapy for AF, particularly persistent AF, remains suboptimal. Current antiarrhythmic drugs are associated with a significant rate of adverse events, particularly proarrhythmia, which may explain why many highly symptomatic AF patients are not receiving any rhythm control therapy...
July 2018: Pharmacological Reviews
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