Biomedicine Hub最新文献

{"title":"Fundus Autofluorescence after Half-Dose Photodynamic Therapy for Chronic Central Serous Chorioretinopathy.","authors":"Kyoko Fujita,&nbsp;Yutaka Imamura,&nbsp;Kei Shinoda,&nbsp;Soiti Matsumoto,&nbsp;Mitsuko Yuzawa","doi":"10.1159/000512662","DOIUrl":"https://doi.org/10.1159/000512662","url":null,"abstract":"<p><strong>Introduction: </strong>To evaluate the fundus autofluorescence (FAF) images 1 year after half-dose photodynamic therapy (hdPDT) for chronic central serous chorioretinopathy (CSC).</p><p><strong>Methods: </strong>Forty-six eyes of 46 consecutive patients with chronic CSC underwent hdPDT. Short wavelength-elicited FAF images and enhanced depth imaging optical coherence tomographic (EDI-OCT) images were recorded before and at 1, 3, 6, 9, and 12 months after the hdPDT. The FAF images at 1 month were compared to those at 12 months after the hdPDT.</p><p><strong>Results: </strong>The serous retinal detachment (SRD) was resolved in all eyes. The best-corrected visual acuity (BCVA) improved significantly from 0.13 ± 0.28 logarithm of minimum angle of resolution (logMAR) units before to 0.01 ± 0.17 logMAR units at 12 months after the hdPDT (<i>p</i> = 0.001; paired <i>t</i> test). The mean choroidal thickness decreased significantly from 365.4 ± 103.0 µm to 284.3 ± 92.5 µm at 12 months (<i>p</i> < 0.001). Abnormal FAF images were present within the irradiated area in all the eyes before the hdPDT. In 5 of 46 eyes, identifiable changes of the FAF images were observed 12 months after hdPDT. None of the eyes had the confluent hypo-FAF type during the follow-up period. Univariate analyses showed that the choroidal thickness before hdPDT correlated significantly with hypo-FAF enlargement (<i>p</i> = 0.005). However, multivariate analyses showed that the association was not significant (<i>p</i> = 0.06).</p><p><strong>Conclusions: </strong>The progression of the RPE damages occurred in approximately one-tenth of the eyes that underwent hdPDT for chronic CSC. The long-term effect of progression of hypo-FAF on visual functions remains to be determined.</p>","PeriodicalId":9075,"journal":{"name":"Biomedicine Hub","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000512662","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25354158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infantile Pyknocytosis: End-Tidal CO, %Micro-R Measurements, Next-Generation Sequencing, and Transfusion Avoidance with Darbepoetin.","authors":"Timothy M Bahr,&nbsp;Mari C Knudsen,&nbsp;Michell Lozano-Chinga,&nbsp;Archana M Agarwal,&nbsp;Jessica A Meznarich,&nbsp;Robin K Ohls,&nbsp;Robert D Christensen","doi":"10.1159/000511388","DOIUrl":"https://doi.org/10.1159/000511388","url":null,"abstract":"<p><p>Infantile pyknocytosis is a rare, self-limited, hemolytic condition of unknown pathogenesis. It is diagnosed when a neonate with Coombs-negative hemolytic anemia has abundant pyknocytes and a characteristic clinical course after other hemolytic disorders has been excluded. Previous reports suggest that transfusions might be avoidable in this condition by administering recombinant erythropoietin. We cared for a patient with this disorder where we employed novel diagnostics and therapeutics. Despite these, and a good outcome free of transfusions, we continue to consider the condition to be idiopathic.</p>","PeriodicalId":9075,"journal":{"name":"Biomedicine Hub","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000511388","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39032859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intraductal Carcinoma of the Parotid Gland Presenting as Parapharyngeal Mass.","authors":"Yamato Oki,&nbsp;Hiromitsu Hatakeyama,&nbsp;Masako Otani,&nbsp;Hidetaka Ikemiyagi,&nbsp;Masanori Komatsu,&nbsp;Yoshiaki Inayama,&nbsp;Nobuhiko Oridate","doi":"10.1159/000511677","DOIUrl":"https://doi.org/10.1159/000511677","url":null,"abstract":"<p><p>Intraductal carcinomas are rare, malignant tumors that arise from the salivary glands. They commonly grow from the parotid gland and no cases growing from the parapharyngeal space have been reported to date. We report a 76-year-old man who was inadvertently found to have a parapharyngeal lesion by CT scans and MR imaging. The tumor was resected through an upper neck approach and diagnosed histopathologically as intraductal carcinoma. As far as we are aware, this is the first case of intraductal carcinoma arising from the parapharyngeal space. Here, we describe the management of this disease together with a review of the relevant literature.</p>","PeriodicalId":9075,"journal":{"name":"Biomedicine Hub","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000511677","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39034697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Propelling Healthcare with Advanced Therapy Medicinal Products: A Policy Discussion.","authors":"Denis Horgan,&nbsp;Andres Metspalu,&nbsp;Marie-Christine Ouillade,&nbsp;Dimitrios Athanasiou,&nbsp;John Pasi,&nbsp;Oumeya Adjali,&nbsp;Patrick Harrison,&nbsp;Cedric Hermans,&nbsp;Giovanni Codacci-Pisanelli,&nbsp;Jasmina Koeva,&nbsp;Thomas Szucs,&nbsp;Viorica Cursaru,&nbsp;Ivica Belina,&nbsp;Chiara Bernini,&nbsp;Suijie Zhuang,&nbsp;Stephen McMahon,&nbsp;Draga Toncheva,&nbsp;Thomas Thum","doi":"10.1159/000511678","DOIUrl":"https://doi.org/10.1159/000511678","url":null,"abstract":"<p><p>Recent advances in biomedicine are opening the door to new approaches, and treatment and prevention are being transformed by novel medicines based on genetic engineering, innovative cell-based therapies and tissue-engineered products, and combinations of a medical device with embedded cell or tissue components. These advanced therapy medicinal products (ATMPs) hold one of the keys to making a reality of genuinely personalised medicine. There are an estimated 450 companies across the globe working on the development of gene therapies and more than 1,000 clinical trials underway worldwide, and some 20-30 new ATMPs filings are expected in Europe annually over the next 5 years. But challenges confront the sector, complicating the translation from research into patient access. Scientific, clinical development and regulatory issues are compounded by limited experience with clinical and commercial use, limited manufacturing know-how, high costs, and difficulties in accessing development funding and investment. Pricing and reimbursement and market access issues are an additional challenge, particularly in Europe, where unfamiliarity with the technology and uncertainty over the use of real-world evidence induce caution among clinicians, health technology assessment bodies and payers. There is a need for a review of the suitability of the regulatory and market access framework for these products, focused development of data, public/private partnerships, and fuller collaboration governments, doctors, insurers, patients, and pharmaceutical companies. This paper makes specific recommendations for all stakeholders, ranging from early dialogue on potential products, linking of clinical data and patient registries or standardisation of control frameworks, to a comprehensive approach to evidence generation, assessment, pricing, and payment for ATMPs.</p>","PeriodicalId":9075,"journal":{"name":"Biomedicine Hub","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000511678","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38910603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Persistent Hypoglycemia with Polycystic Kidneys: A Rare Combination - A Case Report.","authors":"Priya Prasher, Katherine Redmond, Hillarey Stone, James Bailes, Edward Nehus, Deborah Preston, Joseph Werthammer, Werthhammer","doi":"10.1159/000511389","DOIUrl":"10.1159/000511389","url":null,"abstract":"<p><p>We present the case of an infant referred to our NICU born at 39 weeks' gestation with persistent hypoglycemia with elevated insulin levels (HI) requiring diazoxide to maintain normoglycemia. Additionally, polycystic kidney disease (PKD) was detected by ultrasound. Molecular genetic testing revealed pathogenic variants in the <i>PMM2</i>gene, i.e., a variant in the promoter region and a missense variant in the coding region. The precoding variant was recently described in 11 European families with similar phenotypes, either in a homozygous state or as compound heterozygous with a pathogenic coding variant. In neonates with HI associated with PKD, this rare recessive disorder should be considered.</p>","PeriodicalId":9075,"journal":{"name":"Biomedicine Hub","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c1/d9/bmh-0005-0032.PMC8136312.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39032860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biomarker Testing: Piercing the Fog of Alzheimer's and Related Dementia.","authors":"Denis Horgan,&nbsp;Flavio Nobili,&nbsp;Charlotte Teunissen,&nbsp;Timo Grimmer,&nbsp;Dinko Mitrecic,&nbsp;Laurence Ris,&nbsp;Zvezdan Pirtosek,&nbsp;Chiara Bernini,&nbsp;Antonio Federico,&nbsp;Daniel Blackburn,&nbsp;Giancarlo Logroscino,&nbsp;Nikos Scarmeas","doi":"10.1159/000511233","DOIUrl":"https://doi.org/10.1159/000511233","url":null,"abstract":"<p><p>Alzheimer's disease (AD) and related dementia is one of the growing threats to the sustainability of health and care systems in developed countries, and efforts to find therapies have had scant success. The main reasons for this are lack of efficient therapy, which is linked to too late discovery of the disease itself. With this in mind, biomarkers are recognised as an element which can bring a major contribution to research, helping elucidate the disease and the search for treatments. They are also playing an increasing role in early detection and timely diagnosis, which are considered the principal hopes of effective management in the absence of an effective drug. The current arsenal of biomarkers could already, if more widely deployed, provide an effective minimum service to patients and health systems. A concerted action by policy makers and stakeholders could drive progress in access to AD biomarker testing to provide an optimum service in the medium term. This paper discusses how to improve the use of and access to biomarker testing in the detection and diagnosis of AD and other diseases featuring dementia, and how EU healthcare systems could benefit. It outlines the challenges, lists the achievements to date, and highlights the actions needed to allow biomarker testing to deliver more fully on their potential in AD.</p>","PeriodicalId":9075,"journal":{"name":"Biomedicine Hub","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000511233","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25354698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contemporary Management of Benign Parapharyngeal Lesions Using Minimally Invasive Techniques: Case Discussion and Review of the Literature.","authors":"Tiffany Peng Hwa,&nbsp;Michael Cheng,&nbsp;Babak Sadoughi","doi":"10.1159/000511133","DOIUrl":"https://doi.org/10.1159/000511133","url":null,"abstract":"<p><p>Branchial anomalies can present in the parapharyngeal space, creating unique challenges in management. Historically, this approach warranted an open approach, including transcervical, transparotid with total parotidectomy and retromandibular dissection, or transmandibular dissection with mandibulotomy. However, the advent of minimally invasive transoral techniques and laser resection have allowed for successful resection of masses in this anatomical region without an external approach. We illustrate these advancements with the case of a 30-year-old man with globus sensation and throat discomfort, found to have a mass of the right posterolateral oropharynx causing severe airway obstruction. Imaging showed a parapharyngeal mass with extension to the carotid sheath and retropharyngeal space, which was successfully resected with potassium-titanyl-phosphate (KTP) laser using a minimally invasive transoral approach with no major complications. Transoral excision offers decreased morbidity and a cosmetically favorable outcome compared to transcervical excision. KTP laser may be safely used for transoral excision of a benign parapharyngeal mass.</p>","PeriodicalId":9075,"journal":{"name":"Biomedicine Hub","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000511133","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25354702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cranial Nerve VI Palsy as Presenting Sign of Previously Undiagnosed Metastatic Prostate Adenocarcinoma to the Clivus.","authors":"Jennifer E Douglas,&nbsp;John Y K Lee,&nbsp;Karthik Rajasekaran","doi":"10.1159/000510303","DOIUrl":"https://doi.org/10.1159/000510303","url":null,"abstract":"<p><p>Prostate adenocarcinoma is the most common malignancy in males in the United States and is typically highly treatable. Herein we present a case report of a male with a history of prostate adenocarcinoma previously managed with definitive radiation therapy who presented with sudden onset diplopia and examination consistent with an abducens palsy. He was ultimately found to have prostate adenocarcinoma metastatic to the clivus causing cranial neuropathy, and was referred for systemic chemotherapy and palliative Cyberknife stereotactic radiosurgery. While relatively rare, metastatic disease should be included in the differential diagnosis of atypical skull base lesions.</p>","PeriodicalId":9075,"journal":{"name":"Biomedicine Hub","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000510303","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25354699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combination Therapy with Etilefrine and Pleurodesis for Refractory Congenital Chylothorax.","authors":"Yutaro Tomobe,&nbsp;Uiko Mizuguchi,&nbsp;Akihiro Shimotakahara,&nbsp;Naoki Shimojima,&nbsp;Kaoru Okazaki","doi":"10.1159/000509903","DOIUrl":"https://doi.org/10.1159/000509903","url":null,"abstract":"<p><p>Etilefrine, a sympathomimetic agent, is reportedly effective against postoperative chylothorax. However, its effectiveness in treating congenital chylothorax was unknown. We report herein a case of refractory congenital chylothorax treated with etilefrine in a late preterm neonate with massive fetal chylous pleural effusion. The chylothorax was unresponsive to previous treatments, including dietary and pharmacological treatment and thoracic duct ligation. The pleural effusion decreased after intravenous etilefrine was begun on day of life (DOL) 84 and resolved after the addition of chemical pleurodesis with OK-432 on DOL 90. This combination therapy may be a viable treatment option for cases of congenital chylothorax that are unresponsive to other treatments.</p>","PeriodicalId":9075,"journal":{"name":"Biomedicine Hub","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000509903","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25354155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Digitalisation and COVID-19: The Perfect Storm.","authors":"Denis Horgan,&nbsp;Joanne Hackett,&nbsp;C Benedikt Westphalen,&nbsp;Dipak Kalra,&nbsp;Etienne Richer,&nbsp;Mario Romao,&nbsp;Antonio L Andreu,&nbsp;Jonathan A Lal,&nbsp;Chiara Bernini,&nbsp;Birute Tumiene,&nbsp;Stefania Boccia,&nbsp;Antoni Montserrat","doi":"10.1159/000511232","DOIUrl":"https://doi.org/10.1159/000511232","url":null,"abstract":"<p><p>\"A ship in the harbour is safe, but that is not what ships are built for,\" observed that sage 19th century philosopher William Shedd. In other words, technology of high potential is of little value if the potential is not exploited. As the shape of 2020 is increasingly defined by the coronavirus pandemic, digitalisation is like a ship loaded with technology that has a huge capacity for transforming mankind's combat against infectious disease. But it is still moored safely in harbour. Instead of sailing bravely into battle, it remains at the dockside, cowering from the storm beyond the breakwaters. Engineers and fitters constantly fine-tune it, and its officers and deckhands perfect their operating procedures, but that promise is unfulfilled, restrained by the hesitancy and indecision of officialdom. Out there, the seas of the pandemic are turbulent and uncharted, and it is impossible to know in advance everything of the other dangers that may lurk beyond those cloudy horizons. However, the more noble course is for orders to be given to complete the preparations, to cast off and set sail, and to join other vessels crewed by valiant healthcare workers and tireless researchers, already deeply engaged in a rescue mission for the whole of the human race. It is the destiny of digitalisation to navigate those oceans alongside other members of that task force, and the hour of destiny has arrived. This article focuses on the potential enablers and recommendation to maximise learnings during the era of COVID-19.</p>","PeriodicalId":9075,"journal":{"name":"Biomedicine Hub","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000511232","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25354156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}