EXPERT OPINION ON ORPHAN DRUGS 是一本经过同行评审的国际期刊，涵盖了罕见病和孤儿药研发的各个方面。

Expert Opinion on Orphan Drugs is a peer-reviewed international journal that focuses on the research and development of orphan drugs and rare diseases, covering various aspects of the field.

《Expert Opinion on Orphan Drugs》是一本经过同行评审的国际期刊，专注于罕见病和孤儿药的研发，涵盖了相关领域的各个方面。

Expert Opinion on Orphan Drugs

Objective: Blastocystis is a common protozoan parasite detected worldwide. This study aims to investigate the in vitro inhibitory effect of ethyl alcohol extracts of Tunceli garlic (Allium tuncelianum) on growth of Blastocystis ST3 subtype.Methods: Blastocystis ST3 were grown in 3 ml Jones's medium containing A. tuncelianum prepared at five different concentrations for 72 hours at 37°C. Distilled water was used as negative control whereas metronidazole (MTZ) and trimethoprim-sulfamethoxazole (TMP-SMX) prepared in 0.1, 0.5 and 1 mg/ml of concentrations was used as the positive control.Results: According to the results, the MIC90 of the A. tuncelianum was 115 mg/ml at 72 hours. MIC90 of MTZ was 1 mg/ml at 72 hours (94.96%). TMP-SMX had the highest growth MIC90 effect which was reached at 1 mg/ml concentration during 24 hours (88.18%). The growth inhibitory effect of A. tuncelianum extract increased gradually in all doses and timepoints.Conclusion: In this study, obtained findings show the potential inhibitory effect of A. tuncelianum plant extract against Blastocystis ST3 which causes symptomatic diarrhea in humans. It may be recommended to consume the whole A. tuncelianum plant as food supplement. A. tuncelianum extract could be considered as an alternative for the potential treatment of Blastocystis infection.

Mehmet Aykur

Emrah Karakavuk

Muhammet Karakavuk

Mesut Akıl

Hüseyin Can

Mert Döşkaya

Yüksel Gürüz

Hande Dağcı

Inhibitory effect of Tunceli garlic (Allium tuncelianum) on blastocystis subtype 3 grown in vitro

Tunceli大蒜（Allium tuncelianum）对体外培养的Blastocystis亚型3的抑制作用

Introduction: Oxidative stress (OS) and mitochondrial dysfunction are implicated in the pathogenesis of a number of metabolic diseases. OS occurs when there is an imbalance between the pro-oxidant/antioxidant homeostasis, leading to an increased generation of reactive oxidant species (ROS) with resultant cellular dysfunction. It is becoming apparent that increased ROS generation may be attributable to secondary mitochondrial dysfunction as a consequence of disease pathophysiology. Mitochondrial dysfunction occurs as a result of oxidative damage from enhanced ROS generation as well as the accumulation of toxic metabolites in some metabolic diseases.Areas covered: The present review will discuss evidence of OS and mitochondrial dysfunction in phenylketonuria (PKU), lysosomal storage disorders (LSDs), and peroxisomal disorders. In addition, potential adjunct therapies which have the potential to enhance mitochondrial functioning and mitigate OS will be explored. The databases utilized for this review were Pubmed and the Wed of science, with inclusive dates, 1988–2020.Expert opinion: There is an un-unified approach in the treatment of metabolic diseases. Agents including augmenters of mitochondrial function, antioxidants, and activators of mitochondrial biogenesis, may be beneficial. However, although successful in some cases, these adjunct therapies have yet to be incorporated into the clinical-management of metabolic diseases.

Nadia Turton

Tricia Rutherford

Dick Thijssen

Iain P Hargreaves

Putative adjunct therapies to target mitochondrial dysfunction and oxidative stress in phenylketonuria, lysosomal storage disorders and peroxisomal disorders

拟用于靶向苯丙酮尿症、溶酶体贮积症和过氧化物酶体病中线粒体功能障碍和氧化应激的辅助疗法

Introduction: Sarcoglycanopathies (SG) are caused by a mutation in SGCA, SGCB, SGCG, or SGCD genes and present a wide spectrum of muscle involvement and wasting. The clinical phenotypes due to a mutation in the sarcoglycan genes include severe childhood-onset forms, proximal myopathies, pseudometabolic myopathies, myopathies with respiratory complication, and hyperCKemia syndromes. Dilated cardiomyopathy is more frequent and severe in LGMD2E/R4 and LGMD2F/R6.Areas covered: In this paper, the authors review clinical, epidemiological evidence-based studies for better understanding the clinical signs, natural history and provide an update on current diagnostic and therapeutic options linked to the management of respiratory insufficiency present in 26% of the cases and cardiac complications present in 22% of the cases, as well as physiotherapy/rehabilitation and drug treatment. We also briefly over-view new treatments specific to genetic mutations and clinical trials on gene therapy. The papers covering the diagnosis and clinical respiratory care and cardiac complications of sarcoglycanopathies were reviewed in PubMed since the year 1997 and we chose to analyze those that covered series of patients, animal studies were only annotated when relevant to pathophysiology or advances in treatment.Expert opinion: Accurate molecular diagnosis of sarcoglycanopathy patients is crucial in order to offer precise genetic counseling and clinical care, both to offer effective management and to prevent cardiac insufficiency. It is important both for an early treatment of dilated cardiomyopathy and to prevent severe respiratory complications in specific subgroups of patients.

Corrado Angelini

Valentina Pegoraro

Assessing diagnosis and managing respiratory and cardiac complications of sarcoglycanopathy

评估诊断和管理肌营养不良相关蛋白病的心肺并发症

Introduction: Congenital diaphragmatic hernia (CDH) is one of the most challenging neonatal surgical conditions due to its high mortality and morbidity. A multidisciplinary approach is required regarding the management of affected infants, before birth, during their initial hospitalization and in their long-term follow-up.Areas covered: This review discusses the monitoring and management strategies for infants with CDH including during the prenatal and postnatal periods. It emphasizes the long-term sequelae these patients can suffer throughout childhood and adulthood. This article highlights the progress that has been made and where future developments have the potential to improve the outcome of this vulnerable patient population. A literature search was performed using Google Scholar, Science Direct and PubMed.Expert opinion: Advances in antenatal and neonatal care have improved the early survival of infants with CDH, but many infants are surviving with long-term morbidity. An increasing number of CDH survivors are now reaching adolescence and adulthood. New challenges arise regarding the prevention and management of their long-term problems.

Sandeep Shetty

Fahad M. S. Arattu Thodika

Anne Greenough

Managing respiratory complications in infants and newborns with congenital diaphragmatic hernia

先天性膈疝婴儿及新生儿呼吸并发症的管理

Introduction: Neuroblastoma is a tumor of the developing sympathetic nervous system. Low and intermediate-risk patients usually have good treatment outcomes, whereas high-risk cases have poorer survival and recurrence rates. This review highlights limitations in the treatment procedure and future therapies in development that may be adopted into clinical practice, compiled from a literature search of scientific papers from the last 30 years including ongoing clinical trials.Areas covered: Current treatments for high-risk neuroblastoma have shown efficacy in clinical trials; however, this regimen is not effective in preventing relapse in many cases and has high toxicity for pediatric patients. The two main areas of research for new maintenance therapies focus on immunotherapy and gene targeting with molecular therapy. GD2-CAR-T cells and GD2 vaccines have shown efficacy in pre-clinical trials, and MYCN and ALK inhibition target two of the main driver mutations in neuroblastoma potentially offering a highly specific form of therapy.Expert opinion: Tumor heterogeneity leads to various drivers of neuroblastoma; therefore, combinations of molecular therapies can induce remission, alongside immunotherapy that could lower treatment toxicity. The implementation of ‘liquid biopsies’ could greatly improve genetic characterization of a changing tumor profile (often changing in response to treatment) to inform appropriate therapies.

Abhinav Kumar

John P J Rocke

B Nirmal Kumar

Evolving treatments in high-risk neuroblastoma

高危神经母细胞瘤的演变治疗

Introduction Naegleria fowleri is a free-living protist pathogen. Given the opportunity, it can produce infection of the central nervous system. It is distressing that the brain-eating amoebae, Naegleria fowleri remains one of the lethal parasites resulting almost always in death, despite advances in antimicrobial chemotherapy and supportive care.

Ruqaiyyah Siddiqui

David Lloyd

Ahmad M. Alharbi

Naveed Ahmed Khan

Emerging therapies against Naegleria fowleri

针对福氏耐格里阿米巴的新兴疗法

Introduction Pulmonary hypertension in infants is characterized by elevated pulmonary vascular resistance which leads to right-to-left shunting of deoxygenated blood across the ductus arteriosus and foramen ovale into the systemic circulation leading to hypoxemia. It is associated with significant morbidity and the mortality rate has been reported to be between 7 and 15%, which is increased particularly in infants with congenital diaphragmatic hernia (CDH) or bronchopulmonary dysplasia (BPD).

Angeline Darren

Christopher Harris

Management of pulmonary hypertension in infants

婴儿肺动脉高压的管理

Introduction Leishmaniasis, a neglected protozoan illness caused by kinetoplastid pathogens encompasses three major clinical subtypes: visceral, cutaneous and mucocutaneous leishmaniasis. Pentavalent antimonials (SbV) have long been the preferred treatment worldwide but increased drug resistance, and significant side effects, including cardiotoxicity have limited their use, particularly in visceral leishmaniasis in India. Similarly, other approved alternatives have concerns such as teratogenicity, high cost, and drug resistance.

Shyam Sundar

Jitendra Singh

Vishal Kumar Singh

Neha Agrawal

Rajiv Kumar

Current and emerging therapies for the treatment of leishmaniasis

利什曼病治疗中的当前和新兴疗法

Background Rare cancers account for approximately 1 in 8 of all cancers diagnosed in the United States (US) every year. Remarkable scientific advances in cancer research over the past 40 years, in addition to financial incentives provided by the Orphan Drug Act (ODA), have led to hundreds of drug approvals for rare cancers.

Abraham Viju Ipe

Lewis J. Fermaglich

Selma Kraft

Catherine Mease

Tran Le

Kathleen L. Miller

The Orphan Drug Act and rare cancers: a retrospective analysis of oncologic orphan drug designations and associated approvals from 1983-2022

《孤儿药法案与罕见癌症：1983-2022年肿瘤学孤儿药指定及关联批准的回顾性分析》

Background The US Food and Drug Administration (FDA) and European Medicines Agency (EMA) have incentives to stimulate the development and marketing of orphan drugs. Health Canada has none.

Nigel S B. Rawson

John Adams

Orphan drugs approved in Canada: health technology assessment, price negotiation, and government formulary listing

加拿大批准的孤儿药：卫生技术评估、价格谈判和政府处方集列名

短名	Expert. Opin. Orphan. Drugs.
Journal Impact	0.90
国际分区	PHARMACOLOGY & PHARMACY(Q4)
期刊索引	SCI Q4中科院 4 区

ISSN	2167-8707
h-index	27
国内分区	医学(4区)医学药学(4区)

涉及主题	医学生物内科学病理遗传学化学疾病生物化学重症监护医学免疫学生物信息学心理学外科精神科药理学基因
出版信息	出版商: Taylor and Francis Ltd.，出版周期: ，期刊类型: journal，开源期刊: 否
基本数据	创刊年份: 2013，原创研究文献占比: 50.00%，自引率:0.00%， Gold OA占比: 30.77%

Expert Opinion on Orphan Drugs

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