Article
Medical Laboratory Technology
Mohamed Thowfeek Zeenath Thaneefa, Givani Amarakoon, Devan Mendis, Eresha Jasinge, Amanda J. Hooper, John R. Burnett
Summary: This article reports a case of an infant who was diagnosed with LPL deficiency during an acute respiratory tract infection. The patient presented with hepatosplenomegaly, milky serum appearance, and hyper-triglyceridaemia. Genetic analysis revealed two rare LPL variants in the patient. After undergoing a low-fat diet and receiving medium chain triglyceride formula, the patient's serum triglyceride level returned to normal.
CLINICA CHIMICA ACTA
(2022)
Article
Genetics & Heredity
Yakun Li, Man Hu, Lin Han, Lifang Feng, Luhong Yang, Xiaoqian Chen, Tingting Du, Hui Yao, Xiaohong Chen
Summary: In this study, we report a case of asymptomatic chylomicronemia in a Chinese girl with compound-heterozygous mutations in the LPL gene. This expands the mutation spectrum of LPLD and provides valuable experience for early diagnosis and proper treatment.
FRONTIERS IN GENETICS
(2022)
Article
Endocrinology & Metabolism
Shuping Wang, Yiping Cheng, Yingzhou Shi, Wanyi Zhao, Ling Gao, Li Fang, Xiaolong Jin, Xiaoyan Han, Qiuying Sun, Guimei Li, Jiajun Zhao, Chao Xu
Summary: This study identified two novel compound heterozygous variants of LPL, which resulted in defects in the expression and function of LPL and caused type I hyperlipoproteinemia.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Immunology
Zhu Wei Lim, Wei Liang Chen
Summary: This study identified genetic polymorphisms associated with an increased risk of microalbuminuria in participants with abdominal obesity. Lipoprotein lipase, RN7SL87P, and RPL30P9 were identified as candidate genes related to lipid metabolism and abdominal obesity. Carriers of minor alleles of these genes are more susceptible to microalbuminuria in metabolically unhealthy obese patients.
JOURNAL OF INFLAMMATION RESEARCH
(2021)
Article
Pediatrics
Huiping Shi, Zhaoyue Wang
Summary: This article reports on the clinical presentation, family history, and genetic testing results of a patient with familial chylomicronemia syndrome (FCS) in an Asian family. Whole exome sequencing identified two compound heterozygous variants in the LPL gene in the patient. In vitro experiments confirmed that these variants impaired the expression and function of lipoprotein lipase. The article also emphasizes the importance of careful interpretation of coagulation profile in FCS patients.
TRANSLATIONAL PEDIATRICS
(2022)
Article
Biotechnology & Applied Microbiology
Neel Mehta, Renald Gilbert, Parminder S. Chahal, Maria J. Moreno, Nasha Nassoury, Nathalie Coulombe, Viktoria Lytvyn, Mario Mercier, Dorothy Fatehi, Wendy Lin, Emily M. Harvey, Lin-Hua Zhang, Nazila Nazemi-Moghaddam, Seyyed Mehdy Elahi, Colin J. D. Ross, Danica B. Stanimirovic, Michael R. Hayden
Summary: This study aimed to develop a more efficacious AAV gene therapy vector for the treatment of LPLD. The researchers identified AAV8 pVR59 as a superior vector compared to AAV1 (Glybera), with significantly better therapeutic effects at lower doses. AAV8 pVR59 treatment led to long-term correction of LPLD and improvement in pathology.
HUMAN GENE THERAPY
(2023)
Article
Genetics & Heredity
Khalid Al-Waili, Khalid Al-Rasadi, Muna Al-Bulushi, Mohammed Habais, Abdullah Al-Mujaini, Saif Al-Yaarubi, Antoine Rimbert, Razan Zadjali, Pegah Moradi Khaniabadi, Hamida Al-Barwani, Sana Hasary, Zayana M. Al-Dahmani, Hala Al-Badi, Almundher Al-Maawali, Fahad Zadjali
Summary: This study identified novel genetic mutations in F-HTG patients of Arab ancestry in Oman, suggesting a founder effect and genetic uniqueness in this population. These findings highlight the importance of further analysis and counseling for F-HTG patients in the Middle East, particularly in populations with high rates of consanguinity.
FRONTIERS IN GENETICS
(2022)
Article
Medicine, Research & Experimental
Lingling Feng, Yujing Sun, Fuqiang Liu, Chuan Wang, Chao Zhang, Jidong Liu, Ling Jiang
Summary: This study investigated the clinical features and functions of a new lipoprotein lipase gene mutation in hypertriglyceridemia patients from a Chinese family. The mutation was found to weaken the activity of LPL and may be a pathogenic mutation of hypertriglyceridemia. Treatment with fenofibrate effectively controlled the triglyceride level in the patient.
CURRENT RESEARCH IN TRANSLATIONAL MEDICINE
(2022)
Review
Medical Laboratory Technology
Yunhua Huang, Yuanyuan Qin, Lin Liao, Faquan Lin
Summary: In this study, a case of familial chylomicronemia syndrome (FCS) in an infant with compound heterozygous mutations in the LPL gene was reported. The study emphasizes the importance of individualized plasma lipids management and dietary control in infancy FCS.
CLINICA CHIMICA ACTA
(2022)
Article
Medical Laboratory Technology
Takuya Minamizuka, Junji Kobayashi, Hayato Tada, Masaya Koshizaka, Yoshiro Maezawa, Koutaro Yokote
Summary: The prevalence of familial lipoprotein lipase deficiency (LPLD) is rare, and its relationship with coronary artery disease is still unclear. This study conducted coronary computed tomographic angiography on two elderly patients with confirmed LPLD and found no coronary artery stenosis, suggesting that LPLD may not be associated with coronary artery disease.
CLINICAL BIOCHEMISTRY
(2022)
Article
Biochemistry & Molecular Biology
Najia Jin, William F. Matter, Laura F. Michael, Yuewei Qian, Tarun Gheyi, Leticia Cano, Carlos Perez, Celia Lafuente, Howard B. Broughton, Alfonso Espada
Summary: The study shows that angiopoietin-like proteins 3 and 8 (ANGPTL3/8) can inhibit the enzymatic activities of lipoprotein lipase (LPL) by promoting furin-mediated cleavage of LPL. This effect is stronger than using ANGPTL3 or ANGPTL8 alone.
ACS CHEMICAL BIOLOGY
(2021)
Article
Genetics & Heredity
Haochang Hu, Tian Shu, Jun Ma, Ruoyu Chen, Jian Wang, Shuangshuang Wang, Shaoyi Lin, Xiaomin Chen
Summary: The study investigated genetic mutations in familial hypercholesterolemia patients, revealing elevated LDLC levels in the proband and his daughter, as well as two LDLR missense mutations in the family. Bioinformatic analysis suggested pathogenicity of the mutations, and in vitro experiments indicated the mutations could cause dysfunction in LDLR uptake.
FRONTIERS IN GENETICS
(2021)
Article
Endocrinology & Metabolism
Yu Wu, Si Cheng, Hongqiu Gu, Kaixuan Yang, Zhe Xu, Xia Meng, Yilong Wang, Yong Jiang, Hao Li, Yilun Zhou, Yongjun Wang
Summary: This study aimed to investigate the association between lipoprotein lipase (LPL) polymorphisms and susceptibility to diabetic kidney disease (DKD) and early renal function decline in Chinese patients with type 2 diabetes (T2D). The results showed significant association between LPL single nucleotide polymorphisms (SNPs) and DKD, suggesting that LPL-related SNPs may contribute to the rapid loss of renal function in Chinese patients with T2D.
DIABETES OBESITY & METABOLISM
(2023)
Article
Pediatrics
Yun Qin Wu, Yue Yuan Hu, Gui Nan Li
Summary: Neonatal LPL deficiency is a rare monogenic lipid metabolism disorder characterized by recurrent infections in the hyperlipidemia stage, suggesting a potential correlation between immune deficiency and lipid metabolism abnormality. The identification of two novel mutations expands the mutation spectrum of the LPL gene.
Article
Medical Laboratory Technology
Junji Kobayashi, Takuya Minamizuka, Masaya Koshizaka, Yoshiro Maezawa, Hiraku Ono, Koutaro Yokote
Summary: The study found that serum HDL-C is an extremely useful marker for discriminating LPL deficiency from SHTG in the Japanese population, with high sensitivity and specificity, which can serve as an important indicator of the type of disease in patients.
CLINICA CHIMICA ACTA
(2021)
Editorial Material
Cardiac & Cardiovascular Systems
Massimiliano Ruscica, Gerald F. Watts, Cesare R. Sirtori
Review
Cardiac & Cardiovascular Systems
Alpo Vuorio, Gerald F. Watts, Petri T. Kovanen
Article
Biochemistry & Molecular Biology
Bhanupriya Madarampalli, Gerald F. M. Watts, Paul M. Panipinto, Hung N. Nguygen, Michael B. Brenner, Erika H. Noss
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2019)
Review
Cardiac & Cardiovascular Systems
Daniel J. Scherer, Adam J. Nelson, Richard O'Brien, Karam M. Kostner, David L. Hare, David M. Colquhoun, Philip J. Barter, Philip Aylward, Stephen J. Nicholls, Gerald F. Watts
HEART LUNG AND CIRCULATION
(2019)
Article
Pharmacology & Pharmacy
Bruce A. Warden, Jessica Minnier, Gerald F. Watts, Sergio Fazio, Michael D. Shapiro
JOURNAL OF CLINICAL LIPIDOLOGY
(2019)
Article
Pharmacology & Pharmacy
Claudia Stefanutti, Jing Pang, Serafina Di Giacomo, Xue Wu, Xumin Wang, Claudia Morozzi, Gerald F. Watts, Jie Lin
JOURNAL OF CLINICAL LIPIDOLOGY
(2019)
Review
Cardiac & Cardiovascular Systems
Cesare R. Sirtori, Shizuya Yamashita, Maria Francesca Greco, Alberto Corsini, Gerald F. Watts, Massimiliano Ruscica
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2020)
Review
Pharmacology & Pharmacy
Nasim Kiaie, Armita Mahdavi Gorabi, Peter E. Penson, Gerald Watts, Thomas P. Johnston, Maciej Banach, Amirhossein Sahebkar
DRUG DISCOVERY TODAY
(2020)
Article
Allergy
Vinayak Swarnkar, Udantha Abeyratne, Jamie Tan, Ti Wan Ng, Joanna M. Brisbane, Jennifer Choveaux, Paul Porter
Summary: This study developed an objective method to assess acute asthma severity based on automated analysis of cough sounds, which showed potential for clinical use in managing childhood asthma. The method outperformed traditional subjective scoring systems by providing accurate severity measurements without clinician-dependent inputs.
Article
Primary Health Care
Paul Porter, Joanna Brisbane, Udantha Abeyratne, Natasha Bear, Javan Wood, Vesa Peltonen, Phillip Della, Claire Smith, Scott Claxton
Summary: The study developed and tested a smartphone-based algorithm for diagnosing CAP without the need for clinical examinations or radiological inputs. The algorithm showed high accuracy in diagnosing CAP across different age groups and severity levels, providing rapid and accurate diagnosis even in situations where clinical evaluation is challenging. This algorithm offers improved accuracy and increased capabilities for primary and acute care, including telehealth services needed during the COVID-19 pandemic.
BRITISH JOURNAL OF GENERAL PRACTICE
(2021)
Article
Health Care Sciences & Services
Scott Claxton, Paul Porter, Joanna Brisbane, Natasha Bear, Javan Wood, Vesa Peltonen, Phillip Della, Claire Smith, Udantha Abeyratne
Summary: The study developed a smartphone-based algorithm for rapid and accurate diagnosis of AECOPD, utilizing patient-reported features and cough sound data. The algorithm showed high diagnostic accuracy in primary care settings, aiding in early identification of AECOPD.
NPJ DIGITAL MEDICINE
(2021)
Article
Pediatrics
Paul Porter, Joanna Brisbane, Jamie Tan, Natasha Bear, Jennifer Choveaux, Phillip Della, Udantha Abeyratne
Summary: The study identified a high diagnostic error rate for acute childhood respiratory disorders in well-resourced emergency departments, especially in pneumonia and bronchiolitis. These errors can lead to avoidable harm and inappropriate treatment.
FRONTIERS IN PEDIATRICS
(2021)
Article
Allergy
Paul Porter, Joanna Brisbane, Udantha Abeyratne, Natasha Bear, Scott Claxton
Summary: This study aimed to develop a smartphone-based diagnostic algorithm to early and accurately recognize asthma exacerbations by analyzing cough events and patient-reported features. The results showed that the algorithm accurately detected asthma exacerbations without requiring clinical examination or lung function testing.
Article
Health Care Sciences & Services
Paul Porter, Scott Claxton, Joanna Brisbane, Natasha Bear, Javan Wood, Vesa Peltonen, Phillip Della, Fiona Purdie, Claire Smith, Udantha Abeyratne
JMIR FORMATIVE RESEARCH
(2020)
Meeting Abstract
Respiratory System
S. Claxton, P. Porter, J. Brisbane, N. Bear, V Peltonin, J. Woods, C. Smith, F. Purdie, U. Abeyratne