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1. 发明授权

US11940448B2 Proteomic screening for lysosomal storage diseases 有权
公开(公告)号：US11940448B2
公开(公告)日：2024-03-26
申请号：US17219776
申请日：2021-03-31
申请人： Seattle Children's Hospital
发明人： Sihoun Hahn , Christopher Collins , Remwilyn Dayuha , Fan Yi
IPC分类号： G01N33/68
CPC分类号： G01N33/6854 , G01N33/6848 , G01N2800/38
摘要： Early detection of lysosomal storage diseases (LSDs) including Mucopolysaccharidosis Type I (MPS I) and Pompe Disease can greatly improve patient outcome as each disease can be fatal once symptoms emerge. Screening for MPS I and Pompe Disease using biological samples including dried blood spots (DBS), buccal swab, peripheral blood mononuclear cells (PBMCs), or white blood cells (WBCs) is described. The disclosed methods and assays provide a robust way to screen newborns for LSDs. The disclosed methods and assays can also allow rapid prediction of whether a patient with LSD will develop an immune response to enzyme replacement therapy (ERT), thus improving treatment for patients with LSDs. The disclosed methods and assays can also further reduce the number of false positives caused by pseudo deficiency cases of LSD, such as MPS I and Pompe Disease.

2. 发明公开

US20240003813A1 Systems and Methods for Dynamic Immunohistochemistry Profiling of Biological Disorders 审中-公开
公开(公告)号：US20240003813A1
公开(公告)日：2024-01-04
申请号：US18255845
申请日：2021-12-03
申请人： ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
发明人： Manish ARORA , Paul CURTIN , Christine AUSTIN
IPC分类号： G01N21/64 , G16H50/20 , G01N33/68
CPC分类号： G01N21/6458 , G16H50/20 , G01N21/6428 , G01N33/6896 , G01N2333/4737 , G01N2800/28 , G01N2800/38
摘要： The present disclosure provides methods and systems for predicting a subjects diagnostic status with respect to a disease or disorder. The method may comprise staining a tooth, hair, or nail sample of the subject to produce a stained tooth sample, analyzing a fluorescence intensity spatially across the stained tooth, hair, or nail sample, and predicting a subjects diagnostic status with respect to a disease or disorder based at least in part on the analysis of the fluorescence intensity.

3. 发明申请

US20170322228A1 METHOD, KIT AND TEST STRIP FOR DETECTING KAWASAKI DISEASE 审中-公开
公开(公告)号：US20170322228A1
公开(公告)日：2017-11-09
申请号：US15659815
申请日：2017-07-26
申请人： PUBLIC UNIVERSITY CORPORATION YOKOHAMA CITY UNIVERSITY
发明人： Yayoi HORIUCHI , Masaaki Mori , Hisashi Hirano , Shumpei Yokota , Yoko Saito , Mao Aketagawa
IPC分类号： G01N33/68 , G01N33/74 , G01N33/573 , G01N30/00
CPC分类号： G01N33/6893 , G01N27/447 , G01N30/00 , G01N30/90 , G01N33/558 , G01N33/573 , G01N33/68 , G01N33/74 , G01N2800/328 , G01N2800/38 , G01N2800/60
摘要： The present invention provides methods in the context of Kawasaki disease including measuring the level of at least one of lipopolysaccharide binding protein, leucine-rich alpha-2-glycoprotein, angiotensinogen and retinol binding protein 4 in a sample derived from a subject.

4. 发明申请

US20170285015A1 BILE ACID BIOMARKERS FOR NIEMANN-PICK DISEASES, METHODS AND USES THEREFOR 审中-公开
公开(公告)号：US20170285015A1
公开(公告)日：2017-10-05
申请号：US15581389
申请日：2017-04-28
申请人： Daniel ORY , Xuntian JIANG
发明人： Daniel ORY , Xuntian JIANG
IPC分类号： G01N33/53 , G01N33/68
CPC分类号： G01N33/5308 , A61K31/575 , C12M3/00 , G01N30/7233 , G01N33/6848 , G01N33/743 , G01N33/92 , G01N2800/04 , G01N2800/085 , G01N2800/28 , G01N2800/38
摘要： Methods for identification and quantification of bile acids are disclosed. Bile acids in plasma, serum and/or blood such as a dried blood spot are used to identify subjects with a Niemann-Pick disease. The methods include measuring levels of a bile acid, such as 3β,5α,6β-trihydroxycholanic acid, N-(3β,5α,6β-trihydroxy-cholan-24-oyl)glycine, N-(3β,5α,6β-trihydroxy-cholan-24-oyl)taurine, or a combination thereof. Detection of bile acids involve mass spectroscopy and/or a combination of mass spectroscopy and liquid chromatography such as a LC-MS/MS assay. The methods can be used with sphingomyelinase assays to detect, diagnose and differentiate between Niemann-Pick A/B and Niemann-Pick C (NPC) disease.

5. 发明授权

US09446101B2 Agent for use in the case of fructose intolerance 有权
标题翻译：在果糖不耐受的情况下使用的代理
公开(公告)号：US09446101B2
公开(公告)日：2016-09-20
申请号：US13674841
申请日：2012-11-12
申请人： PRO NATURA GESELLSCHAFT FUR GESUNDE ERNAHRUNG MBH
发明人： Daniel Henry Wyrobnik , Isaac Harry Wyrobnik , Elliad Ronen Silcoff
IPC分类号： A61K38/44 , A61K38/47 , A61K9/48 , A61K38/52 , C12Q1/32
CPC分类号： A61K38/47 , A23L5/20 , A23L29/06 , A23V2002/00 , A61K9/48 , A61K38/443 , A61K38/52 , C12Q1/32 , C12Y101/01124 , C12Y302/0102 , C12Y302/01026 , C12Y503/01005 , G01N2333/904 , G01N2800/04 , G01N2800/38 , A23V2200/328 , A61K2300/00
摘要： 5-D-fructose dehydrogenase, optionally in combination with invertase and/or maltase and/or glucose isomerase, may be used to treat fructose intolerance. Other embodiments are also disclosed.
摘要翻译：任选与转化酶和/或麦芽糖酶和/或葡萄糖异构酶组合的5-D-果糖脱氢酶可用于治疗果糖不耐症。还公开了其他实施例。

6. 发明申请

US20160161509A1 METHODS FOR PREDICTING EMBRYO VIABILITY 审中-公开
标题翻译：预测胚胎发生率的方法
公开(公告)号：US20160161509A1
公开(公告)日：2016-06-09
申请号：US15042439
申请日：2016-02-12
申请人： Paul H. Pevsner , Frederick Naftolin , Jamie Grifo , Frederick Licciardi
发明人： Paul H. Pevsner , Frederick Naftolin , Jamie Grifo , Frederick Licciardi
IPC分类号： G01N33/76 , G01N33/50 , G01N33/68
CPC分类号： G01N33/76 , G01N33/5091 , G01N33/689 , G01N2333/59 , G01N2560/00 , G01N2800/368 , G01N2800/38
摘要： The present invention provides methods for predicting the viability of an embryo or for predicting the likelihood of a negative outcome during pregnancy by identifying the presence or absence of or determining the amount of one or more pregnancy associated markers such as molecular isoforms of hCG in a sample. In many instances, the invention is applicable to embryos generated by in vitro fertilization techniques, for instance, to embryos developing in a growth media. The present invention further provides methods for determining the amount of a pregnancy associated markers such as molecular isoforms of hCG (hCG) in a sample. The present invention also provides a diagnostic kit for predicting the viability of an embryo or for predicting the likelihood of a negative outcome during pregnancy by identifying the presence of or determining the amount of one or more pregnancy associated markers such as molecular isoforms of hCG in a sample.
摘要翻译：本发明提供了用于预测胚胎存活力或用于通过鉴定样品中存在或不存在或确定一种或多种妊娠相关标志物例如hCG的分子同种型的量来预测怀孕期间阴性结果的可能性的方法。在许多情况下，本发明可应用于通过体外受精技术产生的胚胎，例如胚胎在生长培养基中发育。本发明进一步提供了用于确定妊娠相关标志物的量的方法，例如样品中hCG（hCG）的分子同种型。本发明还提供了一种诊断试剂盒，用于预测胚胎的存活力或通过鉴定一种或多种妊娠相关标志物的量的存在或确定一种或多种妊娠相关标志物的量来预测怀孕期间的阴性结果的可能性，样品。

7. 发明申请

US20160161498A1 DIAGNOSTIC METHOD FOR PEDIATRIC ACUTE-ONSET NEUROPSYCHIATRIC SYNDROME (PANS) AND PEDIATRIC AUTOIMMUNE NEUROPSYCHIATRIC DISORDER ASSOCIATED WITH STREPTOCOCCI INFECTION (PANDAS) 审中-公开
公开(公告)号：US20160161498A1
公开(公告)日：2016-06-09
申请号：US14790416
申请日：2015-07-02
申请人： Phina Madeleine Cummingham , Craig David Shimasaki , Susan E. Swedo
发明人： Phina Madeleine Cummingham , Craig David Shimasaki , Susan E. Swedo
IPC分类号： G01N33/68 , G01N33/564
CPC分类号： G01N33/686 , G01N33/564 , G01N33/56944 , G01N33/6854 , G01N33/6896 , G01N2333/315 , G01N2333/726 , G01N2333/912 , G01N2405/10 , G01N2469/20 , G01N2800/26 , G01N2800/28 , G01N2800/30 , G01N2800/38
摘要： The present invention provides a panel of at least five clinical analyses or tests (using serum samples) to determine the risk of pediatric acute-onset neuropsychiatric syndrome (PANS) and/or pediatric autoimmune neuropsychiatric disorder associated with streptococcal infection (PANDAS) in an individual. These include enzyme linked immunosorbent assays (ELISAs) to measure antibody titers against neuronal antigens present in the brain; the neuronal antigens include lysoganglioside, tubulin, dopamine receptor D1, dopamine receptor D2, serotonin receptor 5HT2A, and serotonin receptor 5HT2C. Antibody titers against at least four of these neuronal antigens are required in the present methods; preferably antibody tiers against all of these neuronal antigens are measured. A final assay is used to quantify calcium/calmodulin-dependent protein kinase activity using a neuronal cell line. The results of these analyses or tests are then combined using an algorithm to determine whether a PANS or PANDAS diagnosis is appropriate for the individual. Depending on the diagnosis, an appropriate treatment can be determined.

8. 发明授权

US09175347B2 Genomic markers for prediction of long-term response to growth hormone (GH) therapy 有权
标题翻译：用于预测长期应对生长激素（GH）治疗的基因组标记
公开(公告)号：US09175347B2
公开(公告)日：2015-11-03
申请号：US13819058
申请日：2011-08-31
申请人： Pascal Croteau , John Raelson , Jerome Wojcik , Benoît Destenaves , Clement Olivier , Sonia Schnieper-Samec
发明人： Pascal Croteau , John Raelson , Jerome Wojcik , Benoît Destenaves , Clement Olivier , Sonia Schnieper-Samec
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12Q1/6883 , C12Q1/6876 , C12Q1/6886 , C12Q2600/106 , C12Q2600/156 , G01N2800/38 , G01N2800/52
摘要： The present invention relates to the use of genetic markers to identify the response to growth hormone treatment in Growth Hormone Deficiency (GHD) or Turner Syndrome (TS) patients as well as a method of treating GHD or TS patients and kits for genotyping.
摘要翻译：本发明涉及遗传标记物用于鉴定生长激素缺乏（GHD）或特纳综合征（TS）患者中对生长激素治疗的应答以及治疗GHD或TS患者和用于基因分型的试剂盒的方法。

9. 发明申请

US20140349296A1 METHODS OF ENHANCING GENETIC DIAGNOSIS 有权
标题翻译：增强遗传诊断的方法
公开(公告)号：US20140349296A1
公开(公告)日：2014-11-27
申请号：US14359903
申请日：2012-11-30
申请人： BioLamina AB
发明人： Karl Tryggvason , Kristian Tryggvason
IPC分类号： C12Q1/68
CPC分类号： C12Q1/686 , C07K14/705 , C07K14/78 , G01N33/5091 , G01N2800/38
摘要： The present disclosure relates to the use of laminin-521. Laminin-521 can maintain stem cells in vitro pluripotency, enable self-renewal, and enable single cell survival of human embryonic stem cells. When pluripotent human embryonic stem cells are cultured on plates coated with recombinant laminin-521 (laminin-11), in the absence of differentiation inhibitors or feeder cells, the embryonic stem cells proliferate and maintain their pluripotency. Methods of enhancing genetic diagnosis by expanding a single stem cell on laminin-521 prior to PCR amplification are disclosed herein.
摘要翻译：本公开涉及层粘连蛋白-51的用途。层粘连蛋白-521可以维持干细胞的体外多能性，实现自我更新，并能使人类胚胎干细胞的单细胞存活。当多能的人类胚胎干细胞在用重组层粘连蛋白-51（层粘连蛋白-11）包被的平板上培养时，在不存在分化抑制剂或饲养细胞的情况下，胚胎干细胞增殖并保持其多能性。本文公开了通过在PCR扩增之前在层粘连蛋白-51上扩增单个干细胞来增强遗传诊断的方法。

10. 发明申请

US20140213563A1 METHODS OF DIAGNOSING AND TREATING NEONATAL REVERSION TO FETAL CONSCIOUSNESS 有权
标题翻译：诊断和治疗新生儿局部康复的方法
公开(公告)号：US20140213563A1
公开(公告)日：2014-07-31
申请号：US14162753
申请日：2014-01-24
申请人： The Regents of the University of California
发明人： John E. MADIGAN , Monica R. ALEMAN
IPC分类号： A61H9/00 , A61K45/00 , A61D99/00 , G01N33/74
CPC分类号： A61H9/0078 , A61D99/00 , A61H9/005 , A61H2203/03 , A61H2205/08 , A61K31/473 , A61K31/56 , A61K31/565 , G01N33/6893 , G01N33/743 , G01N2800/28 , G01N2800/38
摘要： This invention provides methods of diagnosing and treating syndromes of reversion to fetal consciousness in a neonate.
摘要翻译：本发明提供诊断和治疗新生儿胎儿意识回归综合征的方法。

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