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Usher syndrome:Genetic diagnosis and current therapeutic approaches

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World Journal of Otorhinolaryngology 2024年第1期11卷 1-17页

作者： Beatriz Rocha Cuzzuol jonathan Santos Apolonio Ronaldo Teixeira da Silva Júnior Lorena Sousa de Carvalho Luana Kauany de SáSantos Luciano Hasimoto Malheiro Marcel Silva Luz Mariana Santos Calmon Henrique de Lima Crivellaro Fabian Fellipe Bueno Lemos Fabrício Freire de Melo Instituto Multidisciplinar em Saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil

Usher Syndrome(USH)is the most common deaf-blind syndrome,affecting approximately 1 in 6000 people in the deaf *** genetic condition is characterized by a combination of hearing loss(HL),retinitis pigmentosa,and,in some cases,vestibular *** the subtypes of USH,USH type 1 is considered the most severe form,presenting profound bilateral congenital deafness,vestibular areflexia,and early onset *** type 2 is the most common form,exhibiting congenital moderate to severe HL for low frequencies and severe to profound HL for high ***,type 3 is the rarest,initially manifesting mild symptoms during childhood that become more prominent in the first decades of *** dual impact of USH on both visual and auditory senses significantly impairs patients'quality of life,restricting their daily activities and interactions with *** date,9 genes have been confirmed so far for USH:MYO7A,USH1C,CDH23,PCDH15,USH1G,USH2A,ADGRV1,WHRN and *** genes are inherited in an autosomal recessive manner and encode proteins expressed in the inner ear and retina,leading to functional *** non-genetic methods can assist in patient triage and disease extension evaluation,genetic and molecular tests play a pivotal role in providing genetic counseling,enabling appropriate gene therapy,and facilitating timely cochlear implantation(CI).The CRISPR/Cas9 system and viral-based gene replacement therapy have recently emerged as highly promising techniques for treating *** drug therapy,PTC-124 and Nb54 have been identified as promising drug interventions for genetic HL in ***,CI has proven to be critical in the restoration of *** review aims to summarize the genetic and molecular diagnosis of USH and highlight the importance of early diagnosis in Cuzzuol BR et *** and current treatments of USH WJO https://*** 2 January 19,2024 Volume 11 Issue 1 guiding appropriate treatment strategies and i

关键词： Usher syndromes Hearing loss Retinitis pigmentosa Diagnosis Genetic therapies Cochlear implantation Quality of life

Predictive Factors of Renal Failure in COVID-19 Patients at the Anti-COVID Center in Lome, Togo

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Open Journal of Nephrology 2024年第2期14卷 125-135页

作者： Kossi Akomola Sabi Yoan Makafui Amekoudi Awéréou Kotosso Laune Odilon Blatome Badomta Dolaama Ayodélé jonathan Sabi Oscar Gnirimi Gbahbang Loutou Ahoub-Laye Affo Béfa Noto-Kadou-Kaza Nephrology-Hemodialysis department of CHU Sylvanus Olympio University of Lom Lom Togo Faculty of Health Sciences University of Lom Lom Togo Nephrology department of the CHU Kara University of Kara Kara Togo Centre Hospitalier Universitaire Pointe--Pitre Pointe--Pitre Guadeloup

Background: Angiotensin-converting enzyme 2 has been identified as the receptor that allows the entry of SarsCov2 into the human cell. Its expression in the kidney is 100 times higher than in the lung;thus, making the kidney an excellent target for SarsCov2 infection manifesting as renal failure (RF). The objective of this study was to determine the predictive factors of RF during COVID-19 in the Togolese context. Patients and Methods: This was a retrospective descriptive and analytical study conducted at the Lomé Anti-COVID Center including the records of patients hospitalized for COVID-19, of age ≥ 18 years and having performed a creatinemia. RF was defined by a GFR 2 calculated according to the MDRD formula. Patients were randomized into 2 groups according to GFRResults: 482 patients were selected for this study with a mean age of 58.02 years. Sixty-five percent of the patients were men, i.e., a sex ratio of 1.88. Fifty-two patients had RF, i.e., a frequency of 10.8%.There were 65% men (315 cases), for a sex ratio (M/F) of 1.88. Risk factors for renal failure in COVID-19 were age ≥ 65 years (ORa 2.42;CIa95% [1.17 - 4.95];p = 0.016), anemia (ORa 2.49;CIa95% [1.21 - 5.26];p = 0.015), moderate (ORa 13;CIa95% [2.30 - 2.44];p = 0.017), severe (ORa 26.2;CIa95% [4.85 - 4.93];p = 0.002) and critical (ORa 108;CIa95% [16.5 - 21.76];p Conclusion: Renal failure would therefore be related to the severity of COVID-19 and is the most formidable factor, conditioning the course of the disease and the patient’s vital prognosis.

关键词： COVID-19 Renal Failure Risk Factors Togo

Experimental investigations of a full model with adaptive elasto-flexible membrane wings

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Chinese Journal of Aeronautics 2021年第7期34卷 211-218页

作者： jonathan PFLU GER Christian BREITSAMTER Chair of Aerodynamics and Fluid Mechanics Technical University of MunichGarching 85748Germany

The morphing wing concept aims to constantly adapt the aerodynamics to different flight *** wing is able to adapt to different flight conditions by an adjustable Aspect Ratio(AR)and sweep.A high AR configuration provides high aerodynamic efficiency,while a low AR configuration,with highly swept wings offers a good ***,the flexible membrane allows the wing surface to stretch and contract in-plane as well as the airfoil to adapt to different aerodynamic *** the context of this work,the aerodynamic characteristics of a full model with form-adaptive elasto-flexible membrane wings are investigated *** focus is on the high-lift regime and on the analysis of the aerodynamic coefficients as well as their ***,the lateral aerodynamic derivatives at asymmetric wing positions are of interest.

关键词： Experimental aerodynamics Flexible wing surface Force and moment measurements Morphing wing Particle image velocimetry

Biomedical engineering and erectile restoration:design considerations for urologic prosthetics

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Asian Journal of Andrology 2020年第1期22卷 15-19页

作者： jonathan J Lund Prosthetic Urology Research and development Boston ScientificMinnetonkaMN 55343USA

For patients with moderate-to-severe erectile dysfunction,implantable penile prostheses continue to be a viable *** device developers apply design controls during the development cycle to ensure that a product performs as intended in the final use *** process relies heavily on the principles of systems engineering and documents every facet of performance,unmet need,and *** better understand design philosophy,it is important to frame benchmarked performance outcomes in the context of the ideal *** consideration of erectile anatomy and physiology,including flaccid state,transitional phases,and full tumescence,informs penile prosthesis design philosophy and provides the foundation for product advancement.

关键词： design controls engineering fluid dynamics inflatable penile prosthesis systems engineering

Formation of efficient dye-sensitized solar cells by introducing an interfacial layer of hierarchically ordered macro-mesoporous TiO_2 film

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Science China Chemistry 2011年第6期54卷 930-935页

作者： HALPERT jonathan E State Key Laboratory of Multi-phase Complex Systems Institute of Process Engineering Chinese Academy of Sciences

Hierarchically ordered macro-mesoporous TiO2 films (Ti-Ma-Me) were fabricated on fluorine-doped tin oxide (FTO) substrates through the confinement self-assembly method. The prepared Ti-Ma-Me possesses periodically ordered structure and a large specific surface area, which was applied as an interfacial layer between the nanocrystalline TiO2 film (P25-TiO2) and FTO electrode in the dye-sensitized solar cell (DSSC). The introduction of a Ti-Ma-Me interfacial layer increased the shortcircuit current density (Jsc) from 7.49 to 10.65 mA/cm2 and the open-circuit voltage (Voc) from 0.65 to 0.70 V as the result of its improved light harvesting efficiency by allowing for the high roughness factor and enhanced multiple internal reflection or scattering as well as reducing the back-transport reaction by blocking direct contact between the electrolyte and FTO electrode. Therefore, the photovoltaic conversion efficiency (η) was improved by 83% from 3.04% to 5.55%, as compared to a device using a bare P25 TiO2 photoanode.

关键词： dye-sensitized solar cells hierarchical ordered macro-mesoporous photoanode

Quantum machine learning

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National Science Review 2019年第1期6卷 26-28页

作者： jonathan Allcock Shengyu Zhang Tencent Quantum Laboratory

INTRODUCTION Quantum machine learning is at the crossroads of two of the most exciting current areas of research:quantum computing and classical machine learning. Although the field is still in its infancy,the body of literature is already large enough to warrant several review articles [1–3]. This short survey focuses on a selection of significant recent results on the subtopic of quantum neural net-

关键词： RBM Quantum machine learning

Open Science-A Question of Trust

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Data Intelligence 2021年第1期3卷 64-70页

作者： jonathan Clark The DOI Foundation c/o EDItEURLondon N79DPUnited Kingdom

Collaboration and the sharing of knowledge is at the heart of Open Science(OS).However,we need to know that the knowledge we find and share is really what it purports to be;and we need to know that the authors we hope to collaborate with are really the people they claim to *** this paper,the author argues that a prerequisite for OS is trust and that persistent identifiers help to build that *** persistent identifier systems must themselves be trustworthy and they must be able to connect the user or their machine to the information they need now and into the *** is rather like plumbing:It goes unnoticed and unappreciated until it *** paper puts infrastructure for persistent identifiers in the spotlight as a core component of OS.

关键词： Persistent identifiers Trust Open Science Metadata

Post-Traumatic Palatine Odontogenic Abscess: About 2 Cases

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Open Journal of Stomatology 2024年第7期14卷 336-340页

作者： Aké Lucien jonathan Yapo Bakary Ouattara Koffi Laurent Boka Konan René Kouakou Ahi Morel Mounin Chapo Affoué Linda Marie Pierre Koffi Kahder Morel Diarra Rokiatou Koné-Kamaté Konan Marc Koffi department of Stomatology Maxillofacial and Facial Plastic Surgery University Hospital of Cocody Abidjan Republic of Cote dIvoire

Introduction: Palatal abscess or cellulitis of dental origin is a rare clinical form of circumscribed cellulitis that can sometimes pose a diagnostic problem. It is the consequence of poor or non-treatment of dental caries or trauma. The aim of this study is to describe the clinical and therapeutic aspects of these two cases of palatal cellulitis of post-traumatic dental origin. Observation: The patients consulted for painful palatal swelling secondary to untreated dental trauma of the 21s. The diagnosis of palatal cellulitis was based on the inflammatory and fluctuating nature of the swelling. A probabilistic bi-antibiotic treatment and an incision and drainage associated with treatment of the portal of entry were carried out. Progression was favourable in both cases. Conclusion: Palatal cellulitis is a rare condition and can be prevented by systematic stomatological consultation after dental trauma. Diagnosis is clinical. However, CT scans are sometimes useful. The course is generally favorable with appropriate treatment.

关键词： Abscess Palate dental Trauma

Antiproliferative effect of somatostatin analogs in gastroenteropancreatic neuroendocrine tumors

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World Journal of Gastroenterology 2010年第24期16卷 2963-2970页

作者： jonathan Strosberg Larry Kvols H. Lee Moffitt Cancer Center and Research Institute

Somatostatin analogs were initially developed for the control of hormonal syndromes associated with neuro-endocrine tumors (NETs). In recent years, accumul ating data has supported their role as antiproliferative agents, capable of stabilizing tumor growth in patients with metastatic neuroendocrine malignancies, including carci-noid and pancreatic endocrine tumors. A phase Ⅲ, ran-domized, placebo-controlled trial has now demonstrated that octreotide long-acting repeatable (LAR) 30 mg can significantly prolong time to tumor progression among patients with metastatic midgut NETs regardless of functional status, chromogranin A level or age. In addition to signif icantly lengthening time to tumor pro-gression in the overall study population, subset analysis suggests that patients with low tumor burden are most likely to experience disease stabilization with octreotide LAR 30 mg, supporting the early use of octreotide LAR in patients with metastatic disease. Further research efforts are underway to evaluate the use of somatostatin analogs as antiproliferative agents in other types of gastroenteropancreatic-NETs. Ongoing studies are also evaluating novel somatostatin analogs and somatostatin analogs in combination with other anti-tumor therapies.

关键词： Somatostatin analogues Neuroendocrine tumors Antiproliferative