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Annals of Translational Medicine

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https://www.readbyqxmd.com/read/30306084/rare-forms-of-von-willebrand-disease
#1
REVIEW
Emmanuel J Favaloro
von Willebrand disease (VWD) arises from deficiency and/or defect(s) of plasma von Willebrand factor (VWF). In turn, plasma VWF is an adhesive protein which primarily functions by anchoring platelets to regions of vascular injury, thereby assisting prevention of bleeding. There is a proportional reduction also in Factor VIII, due to the absence of the stabilizing and anti-proteolytic effect that VWF normally exerts. VWD is reportedly the most common inherited bleeding disorder and can be classified into quantitative and qualitative defects, with type 1 and 3 VWD respectively identifying partial and total quantitative deficiency of VWF, and type 2 VWD identifying qualitative defects of VWF...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306083/e-thrombosis-epidemiology-physiopathology-and-rationale-for-preventing-computer-related-thrombosis
#2
REVIEW
Giuseppe Lippi, Camilla Mattiuzzi, Emmanuel J Favaloro
The large availability of computers (personal, laptop and tablet) has revolutionized human life more than any other discovery or invention over the past century. Nevertheless, prolonged use of computers may both directly and indirectly promote the onset of some serious human pathologies, thus including venous thromboembolism (VTE). Convincing epidemiological and biological evidence has been published that computer-related thrombosis (also known as "e-thrombosis") should now be regarded as an independent clinical entity, deserving enhanced healthcare focus and interventions, due to the growing worldwide diffusion of computer devices, which may ultimately contribute to enhance the risk of computer-related thrombosis, and turn it from a relatively rare disease to a noticeably frequent pathology...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306082/sleep-disordered-breathing-in-paediatric-setting-existing-and-upcoming-of-the-genetic-disorders
#3
REVIEW
Marco Zaffanello, Franco Antoniazzi, Laura Tenero, Luana Nosetti, Michele Piazza, Giorgio Piacentini
Childhood obstructive sleep apnea syndrome (OSAS) is characterized by anatomical and functional upper airway abnormalities as pathophysiological determinants, and clinical symptoms are frequently clear. OSAS is widely described in rare genetic disorders, such as achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, and mucopolysaccharidosis. Craniofacial and upper airway involvement is frequently morbid conditions. In children with genetic diseases, the clinical symptoms of OSAS are often slight or absent, and related morbidities are usually more severe and can be observed at any age...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306081/rare-thrombophilic-conditions
#4
REVIEW
Gian Luca Salvagno, Chiara Pavan, Giuseppe Lippi
Thrombophilia, either acquired or inherited, can be defined as a predisposition to developing thromboembolic complications. Since the discovery of antithrombin deficiency in the 1965, many other conditions have been described so far, which have then allowed to currently detect an inherited or acquired predisposition in approximately 60-70% of patients with thromboembolic disorders. These prothrombotic risk factors mainly include qualitative or quantitative defects of endogenous coagulation factor inhibitors, increased concentration or function of clotting proteins, defects in the fibrinolytic system, impaired platelet function, and hyperhomocysteinemia...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306080/biochemical-markers-of-acute-intestinal-ischemia-possibilities-and-limitations
#5
REVIEW
Martina Montagnana, Elisa Danese, Giuseppe Lippi
Acute intestinal ischemia is a relative rare abdominal emergency, associated with considerably high morbidity and mortality rates. Although the conventional diagnostic approach to acute intestinal ischemia entails a preliminary evaluation of signs and symptoms, followed by radiological and laboratory investigations, a definitive diagnosis is can usually be made after laparotomy, which still remains the gold standard diagnostic (and therapeutic) procedure. Several potential laboratory biomarkers have been investigated over the past decades, but none of these seems to reach a suitable diagnostic accuracy for an early and reliable diagnosis of intestinal ischemia...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306079/diagnosis-of-neurodegenerative-dementia-where-do-we-stand-now
#6
REVIEW
Giulia M Sancesario, Sergio Bernardini
After many years of large efforts made for understanding the pathogenesis of dementias, the early diagnosis of these degenerative diseases remains an open challenge. Alzheimer's disease (AD) represents the most common form of dementia, followed by Lewy body disease and frontotemporal degeneration. Actually, different pathological processes can determine similar and overlapping clinical syndrome. To detect in vivo the pathological process underlying progressive cognitive and behavior impairment, the Internationals guidelines recommend the use of biological and topographical markers, which can reflect neuropathological modifications in brain...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306078/old-and-new-insights-into-the-diagnosis-of-hereditary-spherocytosis
#7
REVIEW
Olga Ciepiela
Hereditary spherocytosis (HS) belongs to the group of congenital hemolytic anemias resulting from plasma membrane protein deficiency. When diagnosed too late, HS bares the risk of long-term complications including gall stones and severe anemia. Here, there are discussed advances in HS screening and diagnostics, with a particular focus on methodologies, most of which are available in clinical laboratories worldwide.
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306077/metabolomics-a-challenge-for-detecting-and-monitoring-inborn-errors-of-metabolism
#8
REVIEW
Michele Mussap, Marco Zaffanello, Vassilios Fanos
Timely newborn screening and genetic profiling are crucial in early recognition and treatment of inborn errors of metabolism (IEMs). A proposed nosology of IEMs has inserted 1,015 well-characterized IEMs causing alterations in specific metabolic pathways. With the increasing expansion of metabolomics in clinical biochemistry and laboratory medicine communities, several research groups have focused their interest on the analysis of metabolites and their interconnections in IEMs. Metabolomics has the potential to extend metabolic information, thus allowing to achieve an accurate diagnosis for the individual patient and to discover novel IEMs...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306076/diagnostic-insights-into-chronic-inflammatory-demyelinating-polyneuropathies
#9
REVIEW
Johannes J Roggenbuck, Joseph Boucraut, Emilien Delmont, Karsten Conrad, Dirk Roggenbuck
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare immune-mediated neuropathy with demyelination of nerve fibers as leading morphological feature. The course of disease can be chronic progressive or remitting relapsing. Whereas for acute immune-mediated neuropathies several serological markers have been identified and used successfully in clinical routine, the serological diagnosis of chronic variants such as CIDP has not yet been evolved satisfactory. The typical CIDP and its various atypical variants are characterized by a certain diversity of clinical phenotype and response to treatment...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306075/sclerosing-mesenteritis-a-comprehensive-clinical-review
#10
REVIEW
Michael S Green, Rajiv Chhabra, Hemant Goyal
Sclerosing mesenteritis is a rare disease entity initially described in 1924 with a prevalence reported to be less than 1%. Sclerosing mesenteritis is a comprehensive term used to describe three almost similar clinical entities including mesenteric panniculitis, retractile mesenteritis, and mesenteric lipodystrophy which only differ by their histology. The etiology of sclerosing mesenteritis is uncertain, but the disease has been associated with trauma, autoimmune disease, surgery, and malignancy. The typical presenting symptom is the abdominal pain, but sclerosing mesenteritis has a broad constellation of presenting symptoms which often makes consideration of the diagnosis unlikely...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306074/insulin-autoimmune-syndrome-from-diagnosis-to-clinical-management
#11
REVIEW
Simona Censi, Caterina Mian, Corrado Betterle
Autoimmune forms of hypoglycemia are a rare cause of low blood sugar levels among Caucasians, and often go misdiagnosed, exposing patients to lengthy series of pointless, potentially harmful and expensive tests. There are two types of autoimmune hypoglycemia. One is insulin autoimmune syndrome (IAS), which is characterized by hyperinsulinemic hypoglycemia, elevated insulin autoantibody (IAA) titers, no prior exposure to exogenous insulin, and no of pathological abnormalities of the pancreatic islets. This condition is also known as "Hirata's disease"...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306073/molecular-basis-of-cystic-fibrosis-from-bench-to-bedside
#12
REVIEW
Maria Cristina Dechecchi, Anna Tamanini, Giulio Cabrini
Cystic fibrosis (CF), is an autosomal recessive disease affecting different organs. The lung disease, characterized by recurrent and chronic bacterial infection and inflammation since infancy, is the main cause of morbidity and precocious mortality of these individuals. The innovative therapies directed to repair the defective CF gene should account for the presence of more than 200 disease-causing mutations of the CF transmembrane conductance regulator ( CFTR ) gene. The review will recall the different experimental approaches in discovering CFTR protein targeted molecules, such as the high throughput screening on chemical libraries to discover correctors and potentiators of CFTR protein, dual-acting compounds, read-through molecules, splicing defects repairing tools, CFTR "amplifiers"...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306072/current-and-future-roles-of-mucins-in-cholangiocarcinoma-recent-evidences-for-a-possible-interplay-with-bile-acids
#13
REVIEW
Elisa Danese, Andrea Ruzzenente, Martina Montagnana, Patricia Marie-Jeanne Lievens
Cholangiocarcinoma (CCA) is rare but highly malignant tumour. The diagnosis is difficult due to its silent clinical character and the inefficiency of currently available diagnostic markers. An enhanced understanding of the molecular pathways involved in CCA carcinogenesis would herald targeted, individualized therapies, as well as new early diagnostic tool with improvement of patient survival. Recently, two mucin proteins, MUC4 and MUC5 have gained interest for their involvement in tumour growth and progression and possible use as diagnostic and prognostic cancer biomarkers...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306071/anaphylactic-cardiovascular-collapse-and-kounis-syndrome-systemic-vasodilation-or-coronary-vasoconstriction
#14
REVIEW
Nicholas G Kounis, Gianfranco Cervellin, Ioanna Koniari, Laura Bonfanti, Periklis Dousdampanis, Nikolaos Charokopos, Stelios F Assimakopoulos, Stavros K Kakkos, Ioannis G Ntouvas, George D Soufras, Ioannis Tsolakis
The first reported human anaphylactic death is considered to be the Pharaoh Menes death, caused by a wasp sting. Currently, anaphylactic cardiovascular events represent one of most frequent medical emergencies. Rapid diagnosis, prompt and appropriate treatment can be life saving. The main concept beyond anaphylaxis lies to myocardial damage and ventricular dysfunction, thus resulting in cardiovascular collapse. Cardiac output depression due to coronary hypoperfusion from systemic vasodilation, leakage of plasma and volume loss due to increased vascular permeability, as well as reduced venous return, are regarded as the main causes of cardiovascular collapse...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306070/rare-congenital-bleeding-disorders
#15
REVIEW
Massimo Franchini, Giuseppe Marano, Simonetta Pupella, Stefania Vaglio, Francesca Masiello, Eva Veropalumbo, Vanessa Piccinini, Ilaria Pati, Liviana Catalano, Giancarlo Maria Liumbruno
The rare congenital bleeding disorders are a heterogeneous group of diseases which include deficiencies of fibrinogen, prothrombin and factors V, V + VIII, VII, X, XI and XIII. They are usually transmitted as autosomal recessive disorders, and the prevalence of the severe forms ranges from one case in 500,000 for factor VII up to one in 2,000,000 for factor XIII in the general population. Patients with rare congenital bleeding disorders may have a broad spectrum of clinical symptoms, ranging from mucocutaneous bleeding to life-threatening haemorrhages, such as those occurring in the central nervous system...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306069/the-burden-of-cardiac-arrhythmias-in-sarcoidosis-a-population-based-inpatient-analysis
#16
Rupak Desai, Kiranmayi Kakumani, Hee Kong Fong, Bhrugesh Shah, Daniyal Zahid, Dipen Zalavadia, Rajkumar Doshi, Hemant Goyal
Background: Cardiac involvement in the sarcoidosis is known to ensue with diverse clinical forms and its investigation is challenging at times. This article features the under-perceived burden, patterns, and outcomes of different arrhythmias, which may have a prognostic significance in patients with sarcoidosis. Methods: We queried the National Inpatient Sample (NIS) for 2010-2014 to recognize sarcoidosis, arrhythmia, and comorbidities affecting hospitalizations...
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30306068/rare-diseases-the-paradox-of-an-emerging-challenge
#17
Elisa Danese, Giuseppe Lippi
No abstract text is available yet for this article.
September 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30211202/interactive-translational-research-model-and-cadaveric-simulation-where-minimally-invasive-cardiac-surgery-and-industry-meet
#18
EDITORIAL
Davida A Robinson, Jessie H Evans, Angelo J Martellaro, Carl A Johnson, Jude S Sauer, Peter A Knight
Focused research targeting an identified clinical problem may result in more rapid development of medical devices, technologies, and surgical techniques that directly impact patient care. These medical advances to improve patient care may be expedited by adopting an interactive translational research model in which inventors, designers, and engineers work in collaboration with surgeons. In addition, cadaveric simulation is a high-fidelity model that is bridging the translational and logistical gap to bring new surgical devices, technologies, and techniques to patients...
August 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30211201/pompe-disease-how-to-solve-many-problems-with-one-solution
#19
EDITORIAL
Rosa Puertollano, Nina Raben
No abstract text is available yet for this article.
August 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/30211200/overcoming-the-limitations-of-glomerular-filtration-rate-estimation-by-using-a-novel-rapid-bedside-measurement
#20
EDITORIAL
Guido Filler, Carmen Rodriguez Cuellar, Mara Medeiros
No abstract text is available yet for this article.
August 2018: Annals of Translational Medicine
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