Discoveries (Craiova, Romania)最新文献

Cotton leaf curl disease (CLCuD), caused by viruses of the family Geminiviridae (genus Begomovirus), is of great concern for cotton production worldwide. The aim of the study was to characterize and quantify the worldwide scientific output of CLCuD research using bibliometric analysis. PubMed, Google Scholar and Scopus search engines were used to extract available data from 1901 to July 2017. A total of 854 CLCuD-related published documents were identified. Most of the documents were published in the form of original research articles (644, 75.4 %) and English was the main language of publication (807, 94 %). The results demonstrate that the study of CLCuD exhibits an overall increasing trend from 1991 to 2017, with the highest number of articles published in 2013. The top 10 countries in terms of absolute research output (number of publications) on this subject were Pakistan (217; 25.40%), India (161; 18.85%), the United States of America (USA; 122; 14.85%), China (85; 9.95%), United Kingdom (57; 6.67%), Sudan (31; 3.62%), Israel (14; 1.63%), Spain (13; 1.52%), Australia (11; 1.28%), Saudi Arabia (9; 1.05%) and Iran (9; 1.05%). Pakistan's most important collaborator was United States of America, followed by China. Noteworthy, not one of the papers listed here was the result of scientific collaboration between India and Pakistan. The total number of citations for all the publications was 3174, with an average of 3.71 citations per publication. The h-index for all extracted data related to CLCuD was 91. The top h-index was achieved by Pakistan (54) followed by the United Kingdom (43), the USA (41) and India (39). The National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, ranked the first in the top 10 list of the most productive institutes. This bibliometric analysis highlights the leading role of Pakistan, India and the USA in research on CLCuD and points out that the initiation of a collaboration between Pakistan and India may have a significant impact on the research output and progress.

An epidemic of extreme respiratory deterrence, pneumonia and shortness of breath, the SARS-CoV-2 viral infection began in Wuhan, Hubei Province, China in December 2019, and rapidly spread across China and beyond, with human to human transmission. On February 12, 2020, World Health Organization officially named the new coronavirus disease as coronavirus disease 19 (COVID-19). Most COVID-19 patients were diagnosed with pneumonia and many were treated using Chinese medicines and other secondary therapies. As of April 22, 2020, the total figure of infected patients has crossed 2.6 million people worldwide with over 180,000 deaths and 700,000 patients that have recovered. Preliminary reports suggest that certain drugs, such as chloroquine and antiviral nucleotide analogues such as remdesivir, which inhibit viral replication, can target the new coronavirus, although their usefulness in the clinic is still under debate. An expert US committee developed the US NIH guidelines for COVID-19 treatment, which was just released and will be regularly updated. This manuscript reviews the epidemiology, etiology, mortality, COVID-19 clinical symptoms, and potential therapeutic drugs, while highlighting the seriousness and damage-induced by SARS-CoV-2.

In patients with cardiovascular events, such as myocardial infarction or aortic dissection without known risk factors for cardiovascular disease, neoplastic disease should be considered as a differential diagnosis. In this report, we present a case of a 51-year old man with previously undiagnosed non-small lung cancer leading to fatal cardiovascular complications due to hemovascular spread, diagnosed post-mortem. This case illustrates the value of autopsy in unexpected deaths.

Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders, usually diagnosed in early childhood, that are characterized by adaptive deficits in social interaction, communication skills, and restricted or stereotyped repetitive patterns of behavior. There had been limited success to define ASD subtypes on the behavioral basis. Genetically categorized ASD subtypes may provide basis to determine the course, prognosis, and individualized mechanism based treatment. Mutations in chromodomain helicase DNA-binding protein 8 (CHD8) gene, have been associated with autism, macrocephaly, speech delay, distinct facial features, sleep and gastrointestinal disturbances. There are few cases in the literature reporting de novo mutations of CHD8 exhibiting sporadic ASD. Here we describe a Saudi boy with developmental delay, intellectual disability, macrocephaly, craniofacial abnormalities, speech delay, but without any history of seizures, gastrointestinal problems or sleep disturbance. Whole exome sequencing for parent-child trio revealed a de novo heterozygous loss-of-function mutation (c.4984C>T, p.Arg1662Ter) in CHD8 gene. Our findings elaborate the genotype-phenotype correlation and confirm that the CHD8 disruptions represent a clinical ASD subtype and further highlight the significance of implementing genomic medicine in clinical practice for an early intervention and necessary support for the families.

Blood transfusions are one of the most common procedures performed in hospitalized patients. Yet, despite all of the measures taken to ensure the safety of the blood supply, there are known risks associated with transfusions, including infectious and noninfectious complications. Meanwhile, issues with blood product availability, the need for compatibility testing, and the storage and transport requirements of blood products, have presented challenges for the administration of blood transfusions. Additionally, there are individuals who do not accept blood transfusions (e.g., Jehovah's Witnesses). Therefore, there is a need to develop alternative agents that can reliably and safely replace blood. However, although there have been many attempts to develop blood substitutes over the years, there are currently no such products available that have been approved by the United States Food and Drug Administration (FDA). However, a more-recently developed hemoglobin-based oxygen carrier has shown promise in early clinical trials and has achieved the status of "Orphan Drug" under the FDA.

Over 100,000 cases of COVID-19 patients infected with the novel coronavirus SARS-COV-2 have been reported worldwide in approximately 2 months, resulting in over 3000 deaths. Potential therapeutic strategies, including remdesivir, chloroquine phosphate, abidol, lopinavir/ritonavir, plasma, antibody, vaccine and stem cells are discussed in this review. With the number of patients increasing daily, there is an urgent need for effective therapeutic intervention.

Bacterial resistance to existent antibiotherapy is a perpetual internationally-recognized problem. Year after year, there is a continuous need for novel antibacterial drugs and this research and development efforts recently resulted in few new drugs or combination of drugs proposed for the use into the clinic. This review focuses on the novel US FDA approved antibacterial agents in the last two years (2018-2019). Plazomicin, eravacycline, sarecycline, omadacycline, rifamycin (2018) and imipenem, cilastatin and relebactam combination, pretomanid, lefamulin, cefiderocol (2019) are new therapeutic options. Plazomicin aminoglycoside antibiotic targets Enterobacteriaceae infections, being mainly used for the complicated urinary tract infections. The fully synthetic fluorocycline eravacycline gained approval for the complicated intra-abdominal infections. The tetracycline-derived antibiotic sarecycline might be a useful strategy for the management of non-nodular moderate to severe acne, while the other tetracycline-derived antibiotic approved, omadacycline, may be used for the patients with acute bacterial skin and skin structure infections and community-acquired bacterial pneumonia. The already-known RNA-synthesis suppressor rifamycin is now also approved for noninvasive Escherichia Coli-caused travelers' diarrhea. Two combinatorial strategies were approved for complicated urinary tract infections, complicated intra-abdominal infections (imipenem, cilastatin and relebactam) and lung tuberculosis (pretomanid in combination with bedaquiline and linezolid). Lefamulin is a semisynthetic pleuromutilin antibiotic for community-acquired bacterial pneumonia, while cefiderocol, a cephalosporin antibiotic is the last antibacterial drug approved in 2019, for the use in complicated urinary tract infections. Despite of these new developments, there is an ongoing need and urgency to develop novel antibiotic strategies and drugs to overrun the bacterial resistance to antibiotics.

Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow disorder with mutations in ribosomal protein genes. Several animal models have been developed to study the pathological mechanism of DBA. Previously, we reported that the complete knock-out of both Rpl5 and Rps24 alleles were lethal, while heterozygous Rpl5+/- and Rps24+/- mice showed normal phenotype.  To establish a more efficient mouse model for mimicking DBA symptoms, we have taken advantage of RNAi technology to generate an inducible mouse model utilizing tetracycline-induced down-regulation of Rpl5.    After two weeks of treatment with doxycycline in drinking water, a subset of treated shRNA Rpl5+/- adult mice developed mild anemia while control mice had normal complete blood counts. Similarly, treated shRNA Rpl5+/- mice developed reticulocytopenia and bone marrow erythroblastopenia. Detection of DBA symptoms in these mice make them a valuable DBA model for studying the pathological mechanism underlying DBA and for further assessment of the disease and drug testing for novel therapies.

Restrictive cardiomyopathy is the least common type of cardiomyopathy, being defined by diastolic dysfunction and often unimpaired systolic function. Restrictive cardiomyopathies can be classified as familial or non-familial. Patients with familial restrictive cardiomyopathy can develop signs and symptoms of this condition anytime from childhood to adulthood. The evolution of the disease is towards signs and symptoms of pulmonary and systemic congestion and, without treatment, there is a five-year mortality rate of approximately 30% in these patients. We discuss the case of a 43-year-old patient diagnosed with familial restrictive cardiomyopathy with positive genetic tests for mutations of MYH7 gene and ABCC9 gene, who was first hospitalized in 2011 for palpitations. The echocardiography performed in evolution showed a continuous alteration of right ventricle function, without important differences of left ventricular function.  She developed heart failure symptoms six years after diagnosis and she had seven hospitalizations in the past two years, currently with an increasing need of diuretics and persistent hepatic dysfunction. Cardiac transplantation or left ventricular assist device therapy should be considered in patients with severe heart failure symptoms and no longer effective treatment. However, elevated pulmonary vascular resistance excludes the patient from cardiac transplantation.

Antibiotic resistance is a relevant topic nowadays, representing one of the main causes of infection-related mortality and morbidity at a global level. This phenomenon is worrisome and represents an area of interest for both clinical practice and fundamental research. One important mechanism whereby bacteria acquire resistance to antibiotics and evade the immune system is by forming biofilms. It is estimated that ~80% of the bacteria producing chronic infections can form biofilms. During the process of biofilm formation microorganisms have the ability to communicate with each other through quorum sensing. Quorum sensing regulates the metabolic activity of planktonic cells, and it can induce microbial biofilm formation and increased virulence. In this review we describe the biofilm formation process, quorum sensing, quorum quenching, several key infectious bacteria producing biofilm, methods of prevention and their challenges and limitations. Although progress has been made in the prevention and treatment of biofilm-driven infections, new strategies are required and have to be further developed.