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INTRODUCTION: Hepatitis C virus (HCV) infection remains a major public health problem worldwide. In Burkina Faso, nearly 720,000 people are living with HCV, and each year about 900 people die from complications of cirrhosis or hepatocellular carcinoma. This study was planned to determine the HCV seroprevalence, characterize circulating genotypes, and monitor HCV viral loads in patients under treatment with antivirals. METHODS: A total of 4,124 individuals and 167 patients in the pre-therapy program were recruited. The "SD Bioline HCV" kit was used for rapid screening of anti-HCV antibodies. Viral load and genotyping were performed in 167 HCV patients on antivirals using the "Iontek HCV Quant" and "Iontek genotyping" kits. RESULTS: Prevalence of HCV was 1.65% (68/4,124), and the median viral load of participants was 5.37 log10/mL (1.32-7.67 log10/mL). Genotype 2 was predominant with a frequency of 86.23% (144/167) and appeared to be more active with higher viral load compared to 13.77% (23/167) for genotype 1 (p < 0.001). After 24 weeks of pan-genotypic direct-acting antivirals, such as sofosbuvir/daclatasvir and sofosbuvir/velpatasvir, the viral loads of all patients became undetectable. CONCLUSION: The responses to antivirals by the circulating genotypes indicate that the results are very satisfactory. Therefore, the prevalence of HCV in the population can be reduced through identification of cases and treatment.
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Hepatite C Crônica , Hepatite C , Antivirais/uso terapêutico , Burkina Faso/epidemiologia , Quimioterapia Combinada , Genótipo , Hepacivirus/genética , Hepatite C/tratamento farmacológico , Hepatite C/epidemiologia , Hepatite C Crônica/tratamento farmacológico , Hepatite C Crônica/epidemiologia , Humanos , Estudos Soroepidemiológicos , Sofosbuvir/efeitos adversos , Resultado do Tratamento , Carga ViralRESUMO
TRIO is a Dbl family guanine nucleotide exchange factor (GEF) and an important regulator of neuronal development. Most truncating and missense variants affecting the Dbl homology domain of TRIO are associated with a neurodevelopmental disorder with microcephaly (MIM617061). Recently, de novo missense variants affecting the spectrin repeat region of TRIO were associated with a novel phenotype comprising severe developmental delay and macrocephaly (MIM618825). Here, we provide more evidence on this new TRIO-associated phenotype by reporting two severely affected probands with de novo missense variants in TRIO affecting the spectrin repeat region upstream of the typically affected GEF1 domain of the protein.
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Fatores de Troca do Nucleotídeo Guanina/genética , Megalencefalia/genética , Mutação de Sentido Incorreto/genética , Proteínas Serina-Treonina Quinases/genética , Espectrina/genética , Humanos , Microcefalia/genética , Transtornos do Neurodesenvolvimento/genética , Fenótipo , Espectrina/metabolismoRESUMO
PURPOSE: To compare the diagnostic performance of different reconstruction algorithms of single-source dual-energy computed tomography (DECT) for the detection of bone marrow lesions (BML) in patients with vertebral compression fracture using MRI as the standard of reference. MATERIAL AND METHODS: Seventeen patients with an age over 50 who underwent single-source DECT of the spine were included. The raw data (RD) were reconstructed using filtered back-projection (FBP) and iterative reconstruction (IR) with three iteration levels (IR1-IR3). Bone marrow images were generated using a three-material decomposition (3MD) and a two-material decomposition (2MD) algorithm and an RD-based approach. Three blinded readers scored the images for image quality and the presence of bone marrow lesions (BML). Only vertebrae with height loss were included. The signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) were calculated. The different reconstructions were compared using Dunn's multiple comparison test. RESULTS: Thirty-nine vertebrae were included. IR(1-3) showed superior sensitivity (87.5%) compared to FBP (75%) using 3MD but was comparable to RD (83.3%). All 2MD images were inferior (sensitivity < 38%). The image quality score was significantly higher for 3MD-IR(1-3) compared to 3MD-FBP (p < 0.0001) and all 2MD data sets (p < 0.03). This pattern was also supported by the SNR and CNR measurements. RD showed no significant improvement compared to IR. CONCLUSION: The image quality of bone marrow images acquired with DECT can be improved by using IR compared with FBP. RD-based reconstruction does not offer significant improvement over image data-based reconstruction. 2MD algorithms are not suitable for BML detection.
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Algoritmos , Doenças da Medula Óssea/diagnóstico por imagem , Interpretação de Imagem Radiográfica Assistida por Computador/métodos , Tomografia Computadorizada por Raios X/métodos , Idoso , Idoso de 80 Anos ou mais , Medula Óssea/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Imagem Radiográfica a Partir de Emissão de Duplo Fóton , Reprodutibilidade dos Testes , Estudos RetrospectivosRESUMO
Rheumatology represents a discipline full of differential diagnoses. Even for classical diseases, such as rheumatoid arthritis as the most frequent chronic inflammatory joint disease and described so clearly in many textbooks, it is not uncommon that it can be a diagnostic challenge in daily practice. This applies to arthritic joint involvement and also to frequently associated extra-articular manifestations. The patient history and results of the clinical examination are essential; however, laboratory and imaging findings often make a significant contribution to confirming the diagnosis, especially in early phases of the disease. This article, which makes no claims to completeness, focuses on diseases that in the opinion of the authors can imitate rheumatoid arthritis due to similar joint and other organ manifestations. These include metabolic, inflammatory infective and non-infective as well as tumorous diseases. A misinterpretation as rheumatoid arthritis as a rule leads to long-term and severe consequences for affected patients. Thus, the diagnosis of rheumatoid arthritis should be questioned and re-evaluated in cases of unusual accompanying symptoms, atypical course of disease and a lack of response to standard treatment approaches.
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Artrite Reumatoide , Artrite Reumatoide/diagnóstico , Diagnóstico Diferencial , Humanos , Fatores de Risco , Índice de Gravidade de DoençaRESUMO
Even primary diagnostic evaluation of the shoulder is a challenge for radiologists. Many imaging findings that definitely indicate abnormal findings in the untreated shoulder should be evaluated carefully in postoperative patients. Artifacts caused by implants or metal abrasion pose considerable problems in postoperative magnetic resonance imaging (MRI). Classic approaches to minimizing artifacts caused by foreign bodies include using turbo spin echo sequences, increasing bandwidth, and reducing voxel size. In recent years, several vendors have developed dedicated pulse sequences for reducing metal artifacts. Different postoperative imaging findings will be encountered, depending on the kind of surgery done. This review article describes typical postoperative MRI findings, focusing on subacromial decompression, reconstruction of the rotator cuff, labrum procedures, and biceps tenodesis.
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Aumento da Imagem/métodos , Interpretação de Imagem Assistida por Computador/métodos , Complicações Pós-Operatórias/diagnóstico por imagem , Articulação do Ombro/diagnóstico por imagem , Articulação do Ombro/cirurgia , Artefatos , Humanos , Dor Pós-Operatória/diagnóstico por imagem , Dor Pós-Operatória/cirurgia , Próteses e Implantes , Dor de Ombro/diagnóstico por imagem , Dor de Ombro/cirurgiaRESUMO
OBJECTIVES: To review and update the existing definition of a positive MRI for classification of axial spondyloarthritis (SpA). METHODS: The Assessment in SpondyloArthritis International Society (ASAS) MRI working group conducted a consensus exercise to review the definition of a positive MRI for inclusion in the ASAS classification criteria of axial SpA. Existing definitions and new data relevant to the MRI diagnosis and classification of sacroiliitis and spondylitis in axial SpA, published since the ASAS definition first appeared in print in 2009, were reviewed and discussed. The precise wording of the existing definition was examined in detail and the data and a draft proposal were presented to and voted on by the ASAS membership. RESULTS: The clear presence of bone marrow oedema on MRI in subchondral bone is still considered to be the defining observation that determines the presence of active sacroiliitis. Structural damage lesions seen on MRI may contribute to a decision by the observer that inflammatory lesions are genuinely due to SpA but are not required to meet the definition. The existing definition was clarified adding guidelines and images to assist in the application of the definition. CONCLUSION: The definition of a positive MRI for classification of axial SpA should continue to primarily depend on the imaging features of 'active sacroiliitis' until more data are available regarding MRI features of structural damage in the sacroiliac joint and MRI features in the spine and their utility when used for classification purposes.
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Imageamento por Ressonância Magnética/normas , Guias de Prática Clínica como Assunto , Sacroileíte/diagnóstico por imagem , Espondilartrite/diagnóstico por imagem , Medula Óssea/diagnóstico por imagem , Medula Óssea/patologia , Humanos , Articulação Sacroilíaca/diagnóstico por imagem , Articulação Sacroilíaca/patologia , Sacroileíte/etiologia , Sacroileíte/patologia , Espondilartrite/classificação , Espondilartrite/complicaçõesRESUMO
Magnetic resonance imaging (MRI) is degraded by metal-implant-induced artifacts when used for the diagnostic assessment of vertebral compression fractures in patients with instrumented spinal fusion. Dual-energy computed tomography (DECT) offers a promising supplementary imaging tool in these patients. This case report describes an 85-year-old woman who presented with a suspected acute vertebral fracture after long posterior lumbar interbody fusion. This is the first report of a vertebral fracture that showed bone marrow edema on DECT; however, edema was missed by an MRI STIR sequence owing to metal artifacts. Bone marrow assessment using DECT is less susceptible to metal artifacts than MRI, resulting in improved visualization of vertebral edema in the vicinity of fused vertebral bodies.
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Fraturas por Compressão/diagnóstico por imagem , Vértebras Lombares/diagnóstico por imagem , Fraturas da Coluna Vertebral/diagnóstico por imagem , Fusão Vertebral , Idoso de 80 Anos ou mais , Feminino , Humanos , Vértebras Lombares/patologia , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios XRESUMO
Modern radiology cannot accomplish the daily numbers of examinations without supportive technology. Even though technology seems to be becoming increasingly more indispensable, business continuity should be ensured at any time and if necessary even with a limited technical infrastructure by business continuity management. An efficient information security management system forms the basis. The early radiology information systems were islands of information processing. A modern radiology department must be able to be modularly integrated into an informational network of a bigger organization. The secondary use of stored data for clinical decision-making support poses new challenges for the integrity of the data or systems because medical knowledge is displayed and provided in a context of treatment. In terms of imaging the creation and distribution radiology services work in a fully digital manner which is often different for radiology reports. Legally secure electronic diagnostic reports require a complex technical infrastructure; therefore, diagnostic findings still need to be filed as a paper document. The internal exchange and an improved dose management can be simplified by systems which continuously and automatically record the doses and thus provide the possibility of permanent analysis and reporting. Communication between patient and radiologist will gain ongoing importance. Intelligent use of technology will convey this to the radiologist and it will facilitate the understanding of the information by the patient.
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Segurança Computacional , Atenção à Saúde/organização & administração , Sistemas Computadorizados de Registros Médicos/organização & administração , Relações Médico-Paciente , Sistemas de Informação em Radiologia/organização & administração , Radiologia/organização & administração , Tecnologia Radiológica/organização & administração , Alemanha , Tecnologia Radiológica/métodosRESUMO
BACKGROUND: Little published research is available about the content of out of hours care (OOHC) in Germany. CONTENT is a project of the University Hospital Heidelberg to build up a morbidity registry for ambulatory health care. One of the participating practices of the network is a rural OOHC centre. The study reports exemplarily on the work of this practice. METHODS: The design of the study is cross-sectional. One of the 2 available CONTENT practice-softwares was used for data retrieval. The softwares allow for classifying reasons for encounter (RFE), health problems (diagnoses) and processes of care with the International Classification of Primary Care (ICPC-2). Furthermore the softwares allow for pseudonymised data export. RESULTS: A 3-year period with 15 886 patient contacts of 9 542 patients (65.9% female) is described. Close to 8% of the population in the catchment area visited the practice at least once in a year. Medium age of the patients was 42 years (range 0-104). The groups of the 25-44-year-old and the 45-64-year-old patients formed together 43% of all contacts. The most frequent RFE were: fever (5.8%), sore throat (4.8%), cough (4.8%), earache (3.9%) and insect bites (3.6%). Frequencies of these RFEs differed considerably between the age groups. With the help of the data, resulting diagnoses and care processes can be described in detail. CONCLUSION: This study describes, for the first time in Germany, the work of an OOHC practice. Data capture to accomplish this was feasible within existing practice software and without much extra work. If more OOHC practices would participate in the CONTENT project a more representative picture of OOHC in Germany could be established.
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Plantão Médico/estatística & dados numéricos , Atenção à Saúde/estatística & dados numéricos , Assistência ao Paciente/estatística & dados numéricos , Avaliação de Processos em Cuidados de Saúde/métodos , Avaliação de Processos em Cuidados de Saúde/estatística & dados numéricos , Sistema de Registros , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Alemanha/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
BACKGROUND: The care of patients at the end of life focuses on preservation of the quality of life, symptom control and fulfillment of the preferred place of death. Only few care and outcome-related data for primary palliative care in Germany are available; therefore, the objective was to examine the quality of life, symptom control and place of death of patients with palliative treatment by general practitioners (GP). MATERIAL AND METHODS: The study is part of the PAMINO project, a non-randomized, controlled trial evaluating the effectiveness of continuing medical education for GPs (≥ 40 h) in palliative care (ISRCTN78021852). Cancer patients with an estimated life expectancy of less than 6 months were recruited by GPs with (PG) or without (CG) continuing education and documented the diagnosis, medication based on the hospice and palliative care collation ( Hospiz- und Palliativ-Erfassung, HOPE) core documentation and the preferred place of death. Patients rated their symptom burden and health-related quality of life using the quality of life questionnaire (QLQ-C15-PAL). Baseline (t0) data at enrollment and the last individual (t1) assessment were used for the analysis. RESULTS: Data of 68 patients (PG: n = 43, CG: n = 25, mean age 69.2 ± 12 years, average time since cancer diagnosis 14 months) were available at t0 and t1 (mean period 4.0 ± 2.1 months). Physical function decreased while emotional functioning remained stable. Patient-perceived pain did not increase; however, GPs intensified the pain therapy. The PGs prescribed non-opioid analgesics more frequently than CGs. During the observation period 59 patients died of which 40 out of 48 (83 %) as preferred at home. CONCLUSIONS: Stable emotional functioning, good symptom control in cancer patients at the end of life and the high rate of dying at home as preferred suggest that GPs with specific training can ensure high-quality general palliative care.
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Neoplasias/terapia , Cuidados Paliativos/métodos , Atenção Primária à Saúde , Características de Residência , Idoso , Idoso de 80 Anos ou mais , Educação Médica Continuada , Feminino , Medicina Geral/educação , Alemanha , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/psicologia , Medição da Dor , Cuidados Paliativos/psicologia , Qualidade da Assistência à Saúde , Qualidade de Vida/psicologia , Inquéritos e QuestionáriosRESUMO
We consider different reaction scenarios of the selective catalytic reduction (SCR) of NO in the presence of ammonia at perfect as well as reduced vanadium oxide surfaces modeled by V2O5(010) without and with oxygen vacancies. Geometric and energetic details as well as reaction paths are evaluated using extended cluster models together with density-functional theory. Based on earlier work of adsorption, diffusion, and reaction of the different surface species participating in the SCR we confirm that at Brønsted acid sites (i.e., OH groups) of the perfect oxide surface nitrosamide, NH2NO, forms a stable intermediate. Here adsorption of NH3 results in NH4 surface species which reacts with gas phase NO to produce the intermediate. Nitrosamide is also found as intermediate of the SCR near Lewis acid sites of the reduced oxide surface (i.e., near oxygen vacancies). However, here the adsorbed NH3 species is dehydrogenated to surface NH2 before it reacts with gas phase NO to produce the intermediate. The calculations suggest that reaction barriers for the SCR are overall higher near Brønsted acid sites of the perfect surface compared with Lewis acid sites of the reduced surface, examined for the first time in this work. The theoretical results are consistent with experimental findings and confirm the importance of surface reduction for the SCR process.
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Extended cluster models together with density-functional theory are used to evaluate geometric, energetic, and electronic properties of different adsorbate species that can occur at a vanadium oxide surface where the selective catalytic reduction (SCR) of NO in the presence of ammonia proceeds. Here, we focus on atomic hydrogen, nitrogen, and oxygen, as well as molecular NO and NHx, x = 1, 4, adsorption at a model V2O5(010) surface. Binding sites, oxygen and vanadium, at both the perfect and reduced surface are considered where reduction is modeled by (sub-) surface oxygen vacancies. The reactants are found to bind overall more strongly at oxygen vacancy sites of the reduced surface where they stabilize in positions formerly occupied by the oxygen (substitutional adsorption) compared with weaker binding at the perfect surface. In particular, ammonia, which interacts only weakly with vanadium at the perfect surface, binds quite strongly near surface oxygen vacancies. In contrast, surface binding of the NH4 adsorbate species differs only little between the perfect and the reduced surface which is explained by the dominantly electrostatic nature of the adsorbate interaction. The theoretical results are consistent with experimental findings and confirm the importance of surface reduction for the reactant adsorption forming elementary steps of the SCR process.
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Amônia/química , Óxidos de Nitrogênio/química , Compostos de Vanádio/química , Adsorção , Catálise , Oxirredução , Propriedades de SuperfícieRESUMO
We discuss the details of important steps of the selective catalytic reduction (SCR) of NO(x) at model V2O5(010) substrate. First, diffusion processes at the substrate surface are considered where hydrogen and ammonium, NH4, are used as examples. Hydrogen diffusion, a prerequisite for water formation involving substrate oxygen, is described by diffusion paths between adjacent surface oxygen sites. Corresponding energy barriers are determined mainly by the flexibility and the amount of distortion of the oxygen atoms which participate in the O-H-O bridge formation at the transition state. Further, diffusion of sub-surface oxygen to fill surface oxygen vacancies of the V2O5(010) substrate has been considered and results in reactive surface sites which have not been discussed so far. NH4 diffusion at the V2O5(010) surface can be described as a combined tumbling and rotation process characterized by quite low diffusion barriers which make the adsorbate rather mobile. Finally, hydrogenation and dehydrogenation of different NH(x) species at the V2O5(010) substrate surface are studied where special emphasis is given to the influence of surface reduction simulated locally by oxygen vacancies. The results confirm experimental findings of the presence of both NH2 and NH4 species after ammonia adsorption at the V2O5(010) surface.
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Amônia/química , Óxido Nítrico/química , Compostos de Vanádio/química , Adsorção , Catálise , Difusão , Hidrogenação , OxirreduçãoRESUMO
OBJECTIVE: Clinical trials are regarded as complex due to the high demands on quality and patient safety and are still exceptional in German primary care. To optimise future trial planning, this study aimed at investigating the barriers and enablers experienced by primary care physicians (PCPs) for trial participation. METHODS: PCPs were surveyed on 11 regional primary care medical education (CME) events using a standardised questionnaire. Regression analyses were used to identify predictors for future trial participation. RESULTS: Of 804 invited PCPs, 408 (50.7%) participated in the survey (51 ± 9 years, female 35%). 69% of participants could imagine their participation in a clinical trial. Of 12 potential factors assessed, the final model retained the 2 predictors (OR; CI; P-value) "research questions relevant to practice" (2.25; 1.61-3.14;<0.001) and "new challenges/change from everyday life" (2.24; 1.67-2.97;<0.001). While 58% of participants were principally willing to participate in investigator training courses according to Good Clinical Practice (GCP), only 6% had participated in such training at the time of answering. Short events were preferred. Only 7% were willing to take over at least half of the costs of these courses. CONCLUSION: To enhance German PCPs motivation to participate in clinical trials, both trials and training courses should be tailored to the needs in the primary care setting.
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Atitude do Pessoal de Saúde , Médicos de Atenção Primária/estatística & dados numéricos , Ensaios Clínicos Pragmáticos como Assunto/estatística & dados numéricos , Atitude Frente a Saúde , Feminino , Alemanha , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
This review presents an overview of the range of imaging modalities used in the diagnostic evaluation of patients with psoriatic arthritis (PsA). Conventional radiography is used to detect structural changes of the joints and tendon attachments. These changes occur late in the course of PsA hence conventional radiography contributes little to the early detection of PsA; however, the detection of periosteal proliferations on radiographs allows a relatively specific diagnosis of PsA. Skeletal scintigraphy and computed tomography are rarely used in PsA. Arthrosonography (ultrasound of the joints) is gaining increasing importance in the early identification of inflammatory soft tissue signs of PsA in the peripheral joints. Sonography enables early detection of synovitis and tenosynovitis as well as superficial erosions and also inflammatory processes of the tendon attachments. Magnetic resonance imaging (MRI) is indispensable for identifying possible involvement of the axial skeleton. Moreover, it allows good visualization of periostitis and arthritis. High resolution microcomputed tomography is an interesting novel diagnostic tool which allows highly sensitive evaluation of the bone structure and can detect very tiny bone lesions where typical signs of PsA are omega-shaped erosions and small corona-like spikes. Another interesting new diagnostic technique is fluorescence optical imaging (FOI) with the Xiralite system which is highly sensitive for detecting inflammatory processes of the hands.
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Artrite Psoriásica/diagnóstico , Artrografia/métodos , Aumento da Imagem/métodos , Imageamento por Ressonância Magnética/métodos , Microscopia de Fluorescência/métodos , Tomografia Computadorizada por Raios X/métodos , Ultrassonografia/métodos , HumanosRESUMO
BACKGROUND: For many years, therapy for metastatic hormone-sensitive prostate cancer (mHSPC) was dominated by monotherapy using androgen deprivation therapy (ADT). With the demonstration of survival benefit with intensified systemic therapy from the CHAARTED and STAMPEDE trials, this has fundamentally changed. We analyzed the phase III trials that led to the change in therapy in mHSPC. In addition, we summarized ongoing trials in mHSPC. OBJECTIVES: The ongoing studies and current data on systemic therapy in mHSPC were analyzed. RESULTS: Monotherapy with ADT is no longer considered the standard therapy for mHSPC. Combination therapy with ADT and novel androgen receptor targeting agents (ARTAs: abiraterone, apalutamide, enzalutamide) is now the established standard option. The added value of further intensification of therapy was demonstrated in the first trials of triple therapy with ADTâ¯+ docetaxelâ¯+ darolutamide or abiraterone in mHSPC. Current studies are also investigating new forms of therapy. Lutetium177-PSMA radioligand therapy is an established standard in metastatic castration-resistant prostate cancer (mCRPC) and is currently being evaluated in combination with ADTâ¯+ ARTA in mHSPC. The use of PARP inhibitors (PARPi) have been established in mCRPC. Current studies are showing early evidence of benefit from novel combination therapies of PARPiâ¯+ ARTA, which represent a further expansion of the therapeutic landscape. Experimental therapies are testing another combination, such as an AKT inhibitor with ARTA in patients with PTEN (phosphatase and tensin homolog) loss. Based on the proof of principle in mCRPC, this combination is now being evaluated in earlier stage mHSPC. Other experimental therapies in clinical testing include inhibitors of cyclin dependent kinases (CDK). CONCLUSIONS: Combination therapies are the current standard of care for mHSPC, with the combination of ADTâ¯+ ARTA dominating. Preliminary results underline the importance of further intensification of therapy by means of triple therapy. However, novel combinations with radioligand therapy or PARP inhibitors are also promising in the treatment of mHSPC. Preliminary results show the principle efficacy of AKT inhibitors in patients with PTEN loss, which similar to therapy with CDK4/6 inhibitors still have to prove their clinical relevance in randomized trials.
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Antagonistas de Androgênios , Neoplasias de Próstata Resistentes à Castração , Masculino , Humanos , Antagonistas de Androgênios/uso terapêutico , Neoplasias de Próstata Resistentes à Castração/tratamento farmacológico , Inibidores de Poli(ADP-Ribose) Polimerases/uso terapêutico , Proteínas Proto-Oncogênicas c-akt/uso terapêutico , Hormônios/uso terapêuticoRESUMO
Aim: Glaucoma is a group of degenerative diseases of the optic nerve whose predisposing factors may be genetic. The objective of this study was to estimate the frequency of the Glu323Lys mutation as a genetic risk factor for glaucoma. Materials and methods: A cross-sectional study over 6 months from October 2020 to March 2021 in Ouagadougou, Burkina Faso. A total of 89 samples of patients with primary open-angle glaucoma (POAG) were collected. The frequency of the Glu323Lys mutation of the myocilin, trabecular meshwork inducible glucocorticoid response (TIGR/MYOC) gene by polymerase chain reaction (PCR)-restriction fragment length polymorphism. Results: In glaucoma patients, only homozygous nonmutated guanine-guanine (GG) and heterozygous mutated adenine-guanine (AG) genotypes were found in 96.63 and 3.37% of cases, respectively. Around 69.66% of patients had a family history of glaucoma, 28.09% had a history of hypertension, and 7.86% had a history of diabetes. Conclusion: The frequency of the Glu323Lys mutation of the TIGR/MYOC gene was 3.37% in the glaucoma population in Ouagadougou. A case-control study is necessary to know the contribution of the Glu323Lys mutation as a genetic risk factor for glaucoma in our study population. Clinical significance: This study constituted the beginning of genetic investigations of glaucoma in our context and showed a low Glu323Lys mutation. How to cite this article: Traoré L, Sanou J, Bakyono BS, et al. Prevalence of Glu323Lys Mutation of the TIGR/MYOC Gene and Risk Factors amongst Primary Open-angle Glaucoma Patients in Ouagadougou, Burkina Faso. J Curr Glaucoma Pract 2023;17(2):79-84.
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Maize (Zea mays) is a major staple crop in Africa, where its yield and the livelihood of millions are compromised by the parasitic witchweed Striga. Germination of Striga is induced by strigolactones exuded from maize roots into the rhizosphere. In a maize germplasm collection, we identified two strigolactones, zealactol and zealactonoic acid, which stimulate less Striga germination than the major maize strigolactone, zealactone. We then showed that a single cytochrome P450, ZmCYP706C37, catalyzes a series of oxidative steps in the maize-strigolactone biosynthetic pathway. Reduction in activity of this enzyme and two others involved in the pathway, ZmMAX1b and ZmCLAMT1, can change strigolactone composition and reduce Striga germination and infection. These results offer prospects for breeding Striga-resistant maize.
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Lactonas , Striga , Zea mays , Germinação , Lactonas/metabolismo , Melhoramento Vegetal , Striga/crescimento & desenvolvimento , Zea mays/genética , Zea mays/metabolismoRESUMO
UNLABELLED: The bone mineral density (BMD) measurement of the hand in rheumatoid arthritis (RA) patients is no standard measurement method as yet. The aim was to contribute to the standardization of the hand BMD measurement, especially of periarticular regions. As results, we found best precision values for the wrist and a significant correlation between hand and spine/femur BMD depending on disease activity and disease duration. INTRODUCTION: This study was conducted to investigate (i) the precision of periarticular hand BMD measuring, (ii) the periarticular demineralization of the hand, (iii) the correlation between periarticular hand BMD and spine/femur BMD, and (iv) the correlation of hand BMD to hand synovitis. METHODS: A number of 52 RA patients were examined by BMD measurement of the femoral neck, spine, whole hand, metacarpophalangeal (MCP) joints II-V, personal identity profile (PIP) joints II-V, and wrist using dual-energy X-ray absorptiometry (DXA). Synovitis of the hand was examined by ultrasonography and magnetic resonance imaging (MRI). Three subgroups were further analyzed: early RA, established RA with moderate and with high disease activity. Early RA and established RA patients with high disease activity were Followed up after 12 months. RESULTS: We found (1) best precision of BMD measurement for the wrist, (2) BMD in RA significantly reduced if compared to normal controls, (3) a highly significant positive correlation between hand and spine/femur BMD and the power of correlation to depend on disease activity and disease duration (high correlation in RA with moderate disease activity and early RA, very high correlation in RA with high disease activity), (4) a negative correlation between hand BMD and hand synovitis in RA with high disease activity, and (5) a significant reduction of synovitis but no change in hand BMD after 12 months, respectively. CONCLUSIONS: This study shows a highly significant correlation between hand BMD and spine/femur BMD in RA patients depending on disease activity and disease duration. We conclude to measure BMD at different sites including hands in order to quantify bone loss in RA patients most properly.