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Exploiting fly models to investigate rare human neurological disorders

Neural Regeneration Research 2025年第1期20卷 21-28页

作者： Tomomi Tanaka Hyung-Lok Chung Department of Neurology Houston Methodist Research InstituteHoustonTXUSA Department of Neurology Weill Cornell Medical CollegeNew YorkNYUSA

Rare neurological diseases,while individually are rare,collectively impact millions globally,leading to diverse and often severe neurological *** attributed to genetic mutations that disrupt protein function or structure,understanding their genetic basis is crucial for accurate diagnosis and targeted *** investigate the underlying pathogenesis of these conditions,researchers often use non-mammalian model organisms,such as Drosophila(fruit flies),which is valued for their genetic manipulability,cost-efficiency,and preservation of genes and biological functions across evolutionary *** tools available in Drosophila,including CRISPR-Cas9,offer a means to manipulate gene expression,allowing for a deep exploration of the genetic underpinnings of rare neurological *** boasts a versatile genetic toolkit,rapid generation turnover,and ease of large-scale experimentation,making it an invaluable resource for identifying potential drug *** can expose flies carrying disease-associated mutations to various compounds,rapidly pinpointing promising therapeutic agents for further investigation in mammalian models and,ultimately,clinical *** this comprehensive review,we explore rare neurological diseases where fly research has significantly contributed to our understanding of their genetic basis,pathophysiology,and potential therapeutic *** discuss rare diseases associated with both neuron-expressed and glial-expressed *** cases include mutations in CDK19 resulting in epilepsy and developmental delay,mutations in TIAM1 leading to a neurodevelopmental disorder with seizures and language delay,and mutations in IRF2BPL causing seizures,a neurodevelopmental disorder with regression,loss of speech,and abnormal *** we explore mutations in EMC1 related to cerebellar atrophy,visual impairment,psychomotor retardation,and gain-of-function mutations in ACOX1 causing Mitchell ***-of-fun

关键词： ACOX1 Drosophila melanogaster glia lipid metabolism model organisms neuroinflammation neurologic disorders neuron rare disease VLCFA

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Evaluating Wharton’s jelly-derived stem cell therapy in autism:Insights from a case study

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World Journal of Methodology 2025年第2期15卷 174-176页

作者： Muzamil Akhtar Abdulqadir J Nashwan college of Medicine Gujranwala Medical CollegeGujranwala 52250PunjabPakistan Department of Nursing and Midwifery Research Hamad Medical CorporationDoha 3050Qatar

Autism spectrum disorder(ASD)is a complex neurodevelopmental disorder affecting over 2%of the global population,marked by social communication deficits and repetitive *** et al explored the efficacy and safety of Wharton’s jelly-derived mesenchymal stem cell(WJ-MSC)therapy in a 4-year-old child with *** the childhood autism rating scale and Denver II develop-mental screening test,significant improvements were seen after six WJ-MSC sessions,with no adverse events over 2 *** promising results,the study’s single-case design limits ***,multi-center trials are needed to validate the findings and assess long-term effects of WJ-MSC therapy in ASD.

关键词： Autism spectrum disorder Stem cell therapy Neuroinflammation Neuro-developmental disorders Wharton jelly derived mesenchymal stem cell

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The CUL4A ubiquitin ligase is a potential therapeutic target in skin cancer and other malignancies

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Chinese Journal of Cancer 2013年第9期32卷 478-482页

作者： Jeffrey Hannah Peng-Bo Zhou Department of Pathology and Laboratory Medicine Weill Cornell Medical College and Weill Cornell Graduate School of Medical Sciences Department of Pathology and Laboratory Medicine Weill Cornell Medical College

Cullin 4A(CUL4A)is an E3 ubiquitin ligase that directly affects DNA repair and cell cycle progression by targeting substrates including damage-specific DNA-binding protein 2(DDB2),xeroderma pigmentosum complementation group C(XPC),chromatin licensing and DNA replication factor 1(Cdt1),and *** work from our laboratory has shown that Cul4a-deficient mice have greatly reduced rates of ultraviolet-induced skin *** a cellular level,Cul4a-deficient cells have great capacity for DNA repair and demonstrate a slow rate of proliferation due primarily to increased expression of DDB2 and p21,*** suggests that CUL4A promotes tumorigenesis(as well as accumulation of skin damage and subsequent premature aging)by limiting DNA repair activity and expediting S phase *** addition,CUL4A has been found to be up-regulated via gene amplification or overexpression in breast cancers,hepatocellular carcinomas,squamous cell carcinomas,adrenocortical carcinomas,childhood medulloblastomas,and malignant pleural *** of its oncogenic activity in skin cancer and up-regulation in other malignancies,CUL4A has arisen as a potential candidate for targeted therapeutic *** this review,we outline the established functions of CUL4A and discuss the E3ligase’s emergence as a potential driver of tumorigenesis.

关键词：泛素连接酶恶性肿瘤皮肤癌治疗 DNA修复 DNA结合蛋白靶点细胞水平

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Idiopathic cystic artery aneurysm complicated with hemobilia and acute pancreatitis

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Hepatobiliary & Pancreatic Diseases International 2008年第5期7卷 547-550页

作者： Subhi J.Al'Aref Husham Abdel-Rahman Nasir Hussain weill cornell medical college in qatar P.O.Box 24144 DohaQatar Hamad medical Corporation-General Surgery Department DohaQatar

BACKGROUND:Aneurysm of the cystic artery is no common,and it is a rare cause of *** o reported cases are pseudoaneurysms resulting from eithe an inflammatory process in the abdomen or abdomina trauma. METHOD:We report a healthy individual who developed hemobilia and acute pancreatitis associated with cysti artery aneurysm. RESULT:The patient was managed with angio-embolization with an uneventful post-embolization course. CONCLUSIONS:Visceral artery aneurysms are rare and can rupture with potentially grave outcome due to excessive *** embolization as a common method of treatment for visceral artery aneurysms was used in ou patient with good outcome.

关键词： aneurysm cystic artery

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Future needs for informed consent in stem cell clinical trials in neurodegenerative diseases

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Neural Regeneration Research 2016年第1期11卷 83-85页

作者： Natalie Hellmers Yaa Obeng-Aduasare Inmaculada de Melo-Martín Claire Henchcliffe weill cornell Parkinson’s Disease and Movement Disorders Institute Department of Neurology Weill Cornell Medical College Division of medical Ethics Department of Medicine Weill Cornell Medical College

Translation of recent advances in stem cell research into clinical trials for restorative therapies for human disease is accelerating dramatically,with a strong focus upon neurodegenerative disorders such as Parkinson... 详细信息

关键词： consent informed amyotrophic restorative Huntington likely advances accelerating comprehension intracerebral

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Comparison of the extrusion rate of Crawford tubes

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International Journal of Ophthalmology(English edition) 2015年第4期8卷 791-793页

作者： Kira L.Segal Sarah H.Van Tassel Charles Kim Nicole Hsu Ashutosh Kacker Gary J.Lelli Jr Department of Ophthalmology Weill Cornell Medical College Department of Otolaryngology Weill Cornell Medical College

· AIM: To compare the outcomes of dacryocystorhinostomy(DCR) using traditional Crawford tubes(TCT) and Crawford tubes with suture(CTS) in the lumen.· METHODS: Retrospective case series consisting of patients who underwent DCR between 2008 and 2013.·RESULTS: A total of 61 DCRs were performed on 50 patients. Patients who underwent DCR using CTS had higher rates of prolapse compared to the TCT group(50% vs 9.4%; P =0.003). Stent removal occurred earlier in patients who received CTS(3.3mo vs 5.1mo; P =0.004). Success rates were equivalent between the two groups(75% vs 81.1%; P =0.684).·CONCLUSION: CTS in the lumen increases the risk of prolapse, prompting earlier tube removal in patients following DCR for nasolacrimal duct obstruction(NLDO).Earlier removal of tubes does not appear to significantly decrease success rates.

关键词： nasolacrimal duct obstruction dacryocystorhinostomy dacryocystitis

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Dimensional(premenstrual symptoms screening tool)vs categorical(mini diagnostic interview,module U)for assessment of premenstrual disorders

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World Journal of Psychiatry 2022年第4期12卷 603-614页

作者： Rifka Chamali Rana Emam Ziyad R Mahfoud Hassen Al-Amin Department of Research Weill Cornell Medicine-QatarDoha 00974Qatar Department of Psychiatry Hamad Medical CorporationDoha 00974Qatar Department of medical Education Weill Cornell Medicine-QatarDoha 00974Qatar Division of Epidemiology Department of Population of Health SciencesWeill Cornell MedicineNew York 10065NYUnited States Department of Psychiatry Weill Cornell Medicine-QatarDoha 00974Qatar

BACKGROUND Premenstrual syndrome(PMS)is the constellation of physical and psychological symptoms before *** dysphoric disorder(PMDD)is a severe form of PMS with more depressive and anxiety *** Mini international neuropsychiatric interview,module U(MINI-U),assesses the diagnostic criteria for probable *** Premenstrual Symptoms screening tool(PSST)measures the severity of these *** To compare the PSST ordinal scores with the corresponding dichotomous MINI-U *** Arab women(n=194)residing in Doha,qatar,received the MINI-U and *** Operating Characteristics(ROC)analyses provided the cut-off scores on the PSST using MINI-U as a gold *** All PSST ratings were higher in participants with positive responses on *** addition,ROC analyses showed that all areas under the curves were significant with the cutoff scores on *** This study confirms that the severity measures from PSST can recognize patients with moderate/severe PMS and PMDD who would benefit from immediate treatment.

关键词： Premenstrual symptoms screening tool Premenstrual dysphoric disorder Arabs Categorical vs dimensional classification

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Endoscopic palliation of malignant biliary stricture

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World Journal of Gastrointestinal Oncology 2016年第3期8卷 240-247页

作者： Sanjay M Salgado Monica Gaidhane Michel Kahaleh Division of Gastroenterology and Hepatology Weill Cornell Medical College

Malignant biliary strictures often present late after the window for curative resection has elapsed. In such patients, the goal of therapy is typically focused on palliation. While historically, palliative measures were performed surgically, the advent of endoscopic intervention offers minimally invasive options to provide relief of symptoms, improve quality of life, and in some cases, increase survival of these patients. Some of these therapies, such as endoscopic biliary decompression, have become mainstays of treatment for decades, whereas newer modalities, including radiofrequency ablation, and photodynamic therapy offer additional options for patients with incurable biliary malignancies.

关键词： Biliary strictures Malignant Endoscopic retrograde cholangiopancreatography Photodynamic therapy Endoscopy Palliation Endoscopic ultrasound Radiofrequency ablation

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Management of pancreatic fluid collections: A comprehensive review of the literature

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World Journal of Gastroenterology 2016年第7期22卷 2256-2270页

作者： Amy Tyberg Kunal Karia Moamen Gabr Amit Desai Rushabh Doshi Monica Gaidhane Reem Z Sharaiha Michel Kahaleh Division of Gastroenterology and Hepatology Weill Cornell Medical College

Pancreatic fluid collections(PFCs) are a frequent complication of pancreatitis. It is important to classify PFCs to guide management. The revised Atlanta criteria classifies PFCs as acute or chronic, with chronic fluid collections subdivided into pseudocysts and walled-off pancreatic necrosis(WOPN). Establishing adequate nutritional support is an essential step in the management of PFCs. Early attempts at oral feeding can be trialed in patients with mild pancreatitis. Enteral feeding should be implemented in patients with moderate to severe pancreatitis. Jejunal feeding remains the preferred route of enteral nutrition. Symptomatic PFCs require drainage; options include surgical, percutaneous, or endoscopic approaches. With the advent of newer and more advanced endoscopic tools and expertise, and an associated reduction in health care costs, minimally invasive endoscopic drainage has become the preferable approach. An endoscopic ultrasonography-guided approach using a seldinger technique is the preferred endoscopic approach. Both plastic stents and metal stents are efficacious and safe; however, metal stents may offer an advantage, especially in infected pseudocysts and in WOPN. Direct endoscopic necrosectomy is often required in WOPN. Lumen apposing metal stents that allow for direct endoscopic necrosectomy and debridement through the stent lumen are preferred in these patients. Endoscopic retrograde cholangio pancreatography with pancreatic duct(PD) exploration should be performed concurrent to PFC drainage. PD disruption is associated with an increased severity of pancreatitis, an increased risk of recurrent attacks of pancreatitis and long-term complications, and a decreased rate of PFC resolution after drainage. Any pancreatic ductal disruption should be bridged with endoscopic stenting.

关键词： Pancreatic fluid collection Pancreatic fluid collection Pseudocyst Walled-off pancreatic necrosis Walled-off pancreatic necrosis Pancreatitis

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Role of(～(18)F)2-fluoro-2-deoxyglucose positron emission tomography in upper gastrointestinal malignancies

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World Journal of Gastroenterology 2011年第46期17卷 5059-5074页

作者： Elizabeth C Smyth Manish A Shah Department of Gastrointestinal Oncology Weill Cornell Medical CollegeMemorial Sloan-Kettering Cancer Center Department of Gastrointestinal Oncology Weill Cornell Medical CollegeNew York-Presbyterian Hospital

The role of whole-body FDG [(～(18)F)2-fluoro-2-deoxy-glucose] positron emission tomography(PET)scan-ning as an imaging modality in the management of patients with malignancy has evolved enormously over the past two ***-PET has demonstrated signifi cant effi cacy in the staging,prognostication and detection of occult metastatic disease in malignancies of the gastrointestinal tract,in addition to assessment of the response to cytotoxic chemotherapy in a more timely manner than has traditionally been possible by more conventional imaging *** sensitivity and specif icity of FDG-PET for the detection and staging of malignancy depend not only on the site and size of the primary tumor and metastases,but also on histologi-cal cell type,reflecting underlying disparities in glucose *** metabolic response to neo-adjuvant chemotherapy or to chemo-radiotherapy in cancers of the gastro-esophageal junction or stomach has been demonstrated in several prospective studies to correlate signifi cantly with both the histological tumor response to treatment and with consequent improvements in overall *** may offer a future paradigm ofpersonalized treatment based on the PET response to ***-PET has been less successful in efforts to screen for and detect recurrent upper gastro-intestinal malignancies,and in the detection of low vol-ume metastatic peritoneal *** to improve the accuracy of PET include the use of novel radiotrac-ers such as(～(18)F)FLT(3-deoxy-3-fluorothymidine)or 11C-choline,or fusion PET-CT with concurrent high-res-olution computed *** review focuses on the role of FDG-PET scanning in staging and response assessment in malignancies of the upper gastrointesti-nal tract,specif ically gastric,esophageal and pancreas carcinoma.

关键词： Positron emission tomography Gastric cancer Esophageal cancer Pancreas cancer

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