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A new report discusses research findings on Neuronal Ceroid Lipofuscinoses (NCL), a group of nervous system diseases. The study was conducted at the Department of Pediatric Neurology at Children's Hospital and University of Child Health Sciences in Lahore, Pakistan. The researchers aimed to unravel the clinical and genetic specifications of NCL. They found that 32.7% of the 153 patients diagnosed with NCL had a pathologic mutation. The most common type of NCL was CLN6, followed by CLN2 and CLN7. The study suggests that a clinically-oriented approach should be used for rapid diagnosis and genetic counseling. [Extracted from the article]

A patent has been issued to Alexion Pharmaceuticals Inc. for methods of treating lysosomal acid lipase (LAL) deficiency in patients. LAL deficiency is a rare lysosomal storage disease characterized by the accumulation of lipids in various tissues, leading to gastrointestinal, liver, and cardiovascular complications. The patent describes the use of exogenous LAL, specifically recombinant human LAL, to treat LAL deficiency. Clinical data from human patients, including an infant with Wolman Disease, showed significant improvements in symptoms and liver function after treatment with exogenous LAL. The methods involve administering low doses of exogenous LAL on a weekly basis. [Extracted from the article]

A recent report from the First Affiliated Hospital of Xinxiang Medical University in China discusses the potential therapeutic approaches for Niemann-Pick C1 disease (NP-C1), a rare and debilitating genetic disorder. NP-C1 is caused by mutations in the NPC1 or NPC2 gene, leading to the accumulation of lipids and cholesterol in the body. The report highlights various theoretical treatment strategies, including small molecule therapies, cell-based approaches, and gene therapy, that have been developed to address this condition. However, these approaches are still in the experimental stage and further research is needed to overcome the complex challenges associated with NP-C1. [Extracted from the article]

The article presents a case study of Neutral Lipid Storage Disease with Myopathy (NLSDM) caused by two heterozygous PNPLA2 gene mutations, detailing the clinical presentation and treatment response. Topics include genetic mutations leading to NLSDM, muscle biopsy findings, and improvements following dietary interventions.

The article provides information on a patent application for polypeptide filed by the inventors including Fabrizio Comper, Romuald Cobau, and Azadeh Kia on July 29, 2021 and was made available online on August 8, 2024. Topics include background information on gaucher disease (GD), major types of GD which are characterised by the specific mutations which have been identified, and claims supplied by the inventors.

A recent study conducted at the University of Tokyo in Japan has explored the use of intraventricular cerliponase alfa treatment in a patient with advanced-stage Neuronal Ceroid Lipofuscinosis Type 2 (CLN2). CLN2 is a lysosomal disease caused by decreased activity of the enzyme TPP1. The study found that cerliponase alfa showed potential efficacy and safety in preventing motor and language function decline in advanced-stage CLN2. This research provides valuable insights into the treatment of this condition and may contribute to future advancements in managing Neuronal Ceroid Lipofuscinosis. [Extracted from the article]

A new study conducted in Croatia has examined the early symptoms and treatment outcomes of neuronal ceroid lipofuscinoses (CLN2), a rare neurodegenerative disease that primarily affects children between the ages of 2 and 4. The disease leads to seizures and a progressive loss of language and motor functions, ultimately resulting in blindness and death in late childhood. The study found that treatment with intracerebroventricular cerliponase alfa can slow the deterioration of motor and language functions compared to the natural progression of the disease. Early diagnosis and timely treatment initiation are crucial for improving outcomes in children with CLN2. [Extracted from the article]

A recent study conducted by the Institute of Cardiology focused on neuronal ceroid lipofuscinoses (CLN2), a group of neurodegenerative lysosomal storage disorders. The researchers aimed to identify pathological variants in the TPP1 gene that contribute to the development of CLN2 disease in Ukrainian patients and compare them with variants found in patients from other regions. Through clinical data collection, enzyme analysis, and genotyping, the researchers profiled the phenotypes and genotypes of 48 CLN2-affected individuals. The study found that predicting the type and clinical course of the disease based on genotype is complex, and the data obtained contributes to existing knowledge on genotype-phenotypic correlations in this rare disease. This research lays the foundation for a personalized approach to managing CLN2 disease. [Extracted from the article]

A recent study conducted by researchers at Santiago de Compostela University has found that a twice-weekly dosing regimen of Sebelipase alfa (Kanuma) effectively treats severely ill infants with Wolman disease. The study evaluated the pharmacokinetics and pharmacodynamics of Sebelipase alfa at a dosage of 5 mg/kg twice weekly, which had not been previously assessed in clinical trials. The results showed that this intensive regimen increased substrate clearance and was well tolerated by patients. However, there was still lipid accumulation between doses. This research provides valuable insights into the treatment of Wolman disease and offers hope for improved outcomes for patients. [Extracted from the article]

A patent application titled "Toxic Aldehyde Related Diseases And Treatment" has been submitted by inventors Brady, Kinney, Mandell, and Young. The application discusses the generation of toxic aldehydes in metabolic and inflammatory processes, which can lead to damage in various organs and the development of diseases such as Age Related Macular Degeneration (AMD). The inventors propose the use of small molecule therapeutics to scavenge toxic aldehydes and reduce the risk of these pathological conditions. The patent application also mentions specific diseases and conditions, such as ocular diseases, skin disorders, autoimmune diseases, and cardiovascular and neurological diseases, where aldehyde toxicity is implicated in the pathogenesis. The inventors suggest administering a compound, such as a primary amine compound, to treat, prevent, or reduce the risk of these diseases and conditions. The method of administration can be topical or systemic. [Extracted from the article]

A recent study conducted at Hospital Pequeno Principe in Curitiba, Brazil, examined the phenotypic and genotypic characteristics of children with neuronal ceroid lipofuscinoses (CLNs), a group of genetic lysosomal storage disorders characterized by neurodegeneration and the accumulation of lipopigment. The study analyzed medical records, imaging, and laboratory tests of 11 patients from nine families with different subtypes of CLNs. The researchers identified 16 mutation variants in genes associated with CLNs, with varying clinical phenotypes depending on the subtype and its variants. The study concluded that the novel mutations found in the patients exhibited rapid and severe progression, consistent with previous literature. [Extracted from the article]

Researchers from Nationwide Children's Hospital in Columbus, Ohio have conducted a study on the natural history and progression of Neuronal Ceroid Lipofuscinoses (NCL) Type 6, a neurodegenerative lysosomal storage disease. The study analyzed the disease progression of 25 patients with late-infantile-onset CLN6 disease and found that the median age of decline in motor and language function was 42 months. The study provides valuable data that may be used in future interventional trials to slow the progression of this devastating disease. The research was supported by the Charlotte and Gwenyth Gray Foundation. [Extracted from the article]

A recent study conducted by researchers at the University of Illinois Chicago explores the relationship between synaptic dysfunction and neuroinflammatory signaling in infantile neuronal ceroid lipofuscinosis (CLN1), a pediatric neurodegenerative condition. The study focuses on the role of the depalmitoylating enzyme, palmitoyl-protein thioesterase 1 (PPT1), in regulating protein trafficking and degradation. The researchers found that the absence of depalmitoylation leads to synaptic protein trafficking disruption and contributes to neuroinflammation through an Akap5-associated mechanism. The study suggests that targeting the upstream regulator of neuroinflammation, calcineurin, with the FDA-approved therapeutic FK506 (Tacrolimus), may provide some improvement in neuroinflammation in CLN1. [Extracted from the article]

A study conducted at Beatrix Children's Hospital in Groningen, Netherlands, has provided updated information on Wolman Disease, a severe form of lysosomal acid lipase deficiency. The disease causes abnormal lipid accumulation in the liver and gut, which is fatal without treatment. The study describes the case of an infant with Wolman Disease who received high-dose enzyme-replacement therapy (ERT), dietary fat restriction, and rituximab-based B-cell depletion as a bridge to early hematopoietic stem-cell transplantation (HSCT). The infant achieved independence from ERT and was disease-free after HSCT. This research has been peer-reviewed and was published in the New England Journal of Medicine. [Extracted from the article]

A recent study conducted at the University of Illinois has investigated the role of depalmitoylation in the regulation of protein turnover and its impact on synaptic transmission and plasticity in a mouse model of infantile neuronal ceroid lipofuscinosis (CLN1). The study found that the absence of the depalmitoylating enzyme palmitoyl-protein thioesterase 1 (PPT1) led to abnormal recruitment of cortical activity and maladaptive homeostatic plasticity. These findings provide insights into the pathogenesis of CLN1 and highlight the importance of PPT1 in AMPAR trafficking. The research has been published in the Journal of Neuroscience and has undergone peer review. [Extracted from the article]

Researchers from Imam Abdulrahman Bin Faisal University in Saudi Arabia have conducted a case study on Sjogren-Larsson syndrome (SLS), a rare genetic disorder characterized by ichthyosis, intellectual disability, and spastic quadriplegia or diplegia. The study focused on a six-year-old female patient with SLS who presented with an abnormal gait and generalized pruritis. Genetic testing revealed a unique mutation in the ALDH3A2 gene that has not been previously reported. The researchers emphasize the importance of reporting such cases to gain insights into the potential effects of these mutations. [Extracted from the article]

A study conducted at Vanderbilt University in Nashville, Tennessee, explores the relationship between glycosphingolipids, neurotransmission, and neurodegeneration in a Drosophila model of Niemann Pick Type C (NPC). The researchers found that Npc1a nulls and brainiac mutants had elevated neurotransmission, suggesting that Npc1a and brn function within the same pathway. Inhibition of glucosylceramide (GlcCer) synthase prevented elevated neurotransmission, indicating that GlcCer is responsible for the increased synaptic transmission. The study concludes that there are causal links between glycosphingolipid-dependent neurotransmission and neurodegeneration in this NPC disease model. [Extracted from the article]

A recent study conducted by researchers at the University of Rochester School of Medicine and Dentistry focused on assessing the integrity of auditory sensory memory processing in individuals with CLN3 disease, also known as juvenile neuronal ceroid lipofuscinosis. The researchers hypothesized that the duration-evoked mismatch negativity (MMN) of the event-related potential (ERP) could serve as a brain-based biomarker for cortical processing abnormalities in this population. The study found that individuals with CLN3 disease showed robust MMN responses at a medium stimulation rate, but reduced or undetectable MMN at faster and slower rates, indicating emerging insufficiencies in the auditory perceptual system. This research provides valuable insights into the auditory processing abilities of individuals with CLN3 disease. [Extracted from the article]

A recent study conducted at the University Medical Center Hamburg-Eppendorf in Germany examined the long-term safety and efficacy of cerliponase alfa, an enzyme replacement therapy, in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease). The study included 24 participants who received cerliponase alfa for a mean of 5 years. The results showed that treated patients experienced a significant slowing of decline in motor and language function compared to historical untreated controls. Although the study did not have a contemporaneous control group, it provides important insights into the effects of long-term treatment. [Extracted from the article]

A recent study conducted at the Capital Institute of Pediatrics in Beijing, China, explored the use of haploidentical hematopoietic stem cell transplantation (HSCT) combined with post-transplant cyclophosphamide (PT/Cy) in the treatment of Neuronal Ceroid Lipofuscinoses (NCLs), a rare lysosomal storage disorder. The study involved eight pediatric patients with NCLs who underwent the procedure. The results showed that the treatment was safe and effective, with all patients achieving full donor chimerism and experiencing no severe transplantation-related complications. However, the progression of mental motor disorders, myoclonic seizures, and vision loss continued, albeit at a slower rate, after transplantation. The study concluded that early transplantation is crucial for improving the survival quality of pediatric patients with NCLs. [Extracted from the article]

A recent study conducted by researchers at Tehran University of Medical Sciences in Iran has identified a novel pathogenic variant in the TPP1 gene that causes Neuronal Ceroid Lipofuscinosis 2 (NCL2) disease. The study included 45 patients with cerebellar ataxia, with the majority of cases being born to consanguineous parents. The researchers used next-generation sequencing to confirm the diagnosis and found that only one patient had the novel pathogenic variant. Early diagnosis of NCL2 could lead to improved personalized-based treatments. The study was supported by NIMAD and has been peer-reviewed. [Extracted from the article]

Researchers at Tokyo Women's Medical University have published a study on neuronal ceroid lipofuscinoses (NCLs), a neurodegenerative disorder characterized by psychomotor deterioration, ataxia, epilepsy, and visual impairment. The study focuses on two Japanese siblings with juvenile-onset CLN1 associated with type II diabetes mellitus. The patients exhibited visual impairment, learning disabilities, and retinitis pigmentosa, and brain imaging showed significant atrophy. The study suggests a possible correlation between CLN1 and diabetes mellitus, indicating that mitochondrial abnormalities may be involved in insulin resistance and the development of type II diabetes. Further research is needed to confirm this correlation. [Extracted from the article]

Presents a study of lipid storage diseases caused by inherited enzyme deficiencies. Description of symptoms of patients with lipid storage diseases; Investigation into the hereditary aspect of the diseases; Identification of the chemical nature of lipids that accumulate in the tissues; Development in the prenatal diagnosis of lipid storage diseases.

For more information on this research see: Apolipoprotein-mimetic Nanodiscs Reduce Lipid Accumulation and Improve Liver Function In Acid Sphingomyelinase Deficiency. Keywords: Ann Arbor; State:Michigan; United States; North and Central America; Apolipoproteins; Apoproteins; Drugs and Therapies; Emerging Technologies; Gastroenterology; Health and Medicine; Hepatology; Lipoproteins; Liver Diseases and Conditions; Liver Function; Nanodiscs; Nanotechnology; Pharmaceuticals; Proteins EN Ann Arbor State:Michigan United States North and Central America Apolipoproteins Apoproteins Drugs and Therapies Emerging Technologies Gastroenterology Health and Medicine Hepatology Lipoproteins Liver Diseases and Conditions Liver Function Nanodiscs Nanotechnology Pharmaceuticals Proteins 2196 2196 1 10/24/23 20231027 NES 231027 2023 OCT 27 (NewsRx) -- By a News Reporter-Staff News Editor at Drug Week -- Investigators discuss new findings in Liver Diseases and Conditions - Liver Function. [Extracted from the article]

For more information on this research see: MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C. Biomedicines, 2023,11(10). Keywords: Biomarkers; Diagnostics and Screening; Genetics; Health and Medicine EN Biomarkers Diagnostics and Screening Genetics Health and Medicine 1223 1223 1 10/09/23 20231013 NES 231013 2023 OCT 13 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- New study results on biomarkers have been published. [Extracted from the article]

Keywords: Tehran; Iran; Asia; Genetics; Health and Medicine; Hemophagocytic Lymphohistiocytosis; Lipid Metabolism Disorders; Lipidoses; Lymphatic Diseases and Conditions; Lymphohistiocytosis; Lysosomal Storage Diseases and Conditions; Nutritional and Metabolic Diseases and Conditions; Pediatrics; Wolman Disease EN Tehran Iran Asia Genetics Health and Medicine Hemophagocytic Lymphohistiocytosis Lipid Metabolism Disorders Lipidoses Lymphatic Diseases and Conditions Lymphohistiocytosis Lysosomal Storage Diseases and Conditions Nutritional and Metabolic Diseases and Conditions Pediatrics Wolman Disease 129 129 1 09/11/23 20230916 NES 230916 2023 SEP 16 (NewsRx) -- By a News Reporter-Staff News Editor at Pediatrics Week -- New research on Nutritional and Metabolic Diseases and Conditions - Wolman Disease is the subject of a report. Keywords for this news article include: Iran, Asia, Tehran, Genetics, Lipidoses, Pediatrics, Wolman Disease, Health and Medicine, Lipid Metabolism Disorders, Lymphatic Diseases and Conditions, Hemophagocytic Lymphohistiocytosis, Lysosomal Storage Diseases and Conditions, Nutritional and Metabolic Diseases and Conditions. [Extracted from the article]

Keywords for this news article include: Asia, Beijing, Myopathy, Pediatrics, Muscle Weakness, Health and Medicine, Neurologic Manifestations, People's Republic of China, Neuromuscular Manifestations, Muscular Diseases and Conditions, Musculoskeletal Diseases and Conditions. In the childhood-onset cohort, NLSDM presented initially as asymptomatic or paucisymptomatic hyperCKemia in 6/11 patients, and follow-up data showed onset of muscle weakness in 6/11 childhood-onset patients. Keywords: Beijing; People's Republic of China; Asia; Health and Medicine; Muscle Weakness; Muscular Diseases and Conditions; Musculoskeletal Diseases and Conditions; Myopathy; Neurologic Manifestations; Neuromuscular Manifestations; Pediatrics EN Beijing People's Republic of China Asia Health and Medicine Muscle Weakness Muscular Diseases and Conditions Musculoskeletal Diseases and Conditions Myopathy Neurologic Manifestations Neuromuscular Manifestations Pediatrics 108 108 1 09/11/23 20230916 NES 230916 2023 SEP 16 (NewsRx) -- By a News Reporter-Staff News Editor at Pediatrics Week -- New research on Musculoskeletal Diseases and Conditions - Muscle Weakness is the subject of a report. [Extracted from the article]

While a diagnosis of 'Little's disease' was made during life, his postmortem brain investiga-tion at Munich neuropathology ('Deutsche Forschungsanstalt fur Psychiatrie') revealed the diagnosis of "amaurotic idiocy" (AI)." Keywords: Biochemicals; Biochemistry; Chemicals; Enzymes and Coenzymes; GM1 Gangliosidosis; Galactosidases; Health and Medicine; Nutritional and Metabolic Diseases and Conditions EN Biochemicals Biochemistry Chemicals Enzymes and Coenzymes GM1 Gangliosidosis Galactosidases Health and Medicine Nutritional and Metabolic Diseases and Conditions 813 813 1 08/21/23 20230825 NES 230825 2023 AUG 25 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Investigators discuss new findings in GM1 gangliosidosis. Many neuropathological studies were performed on AI, but the underlying processes could only be revealed by new scientific techniques such as biochemical analysis of nervous tissue, deciphering AI as nervous system lipid storage diseases, e.g. GM2-gangliosidosis. [Extracted from the article]

Autoimmune Diseases and Conditions, Biochemicals, Biochemistry, Chemicals, Congenital Abnormalities, Genetic Diseases and Conditions, Genetic Skin Diseases and Conditions, Health and Medicine, Keratosis, Ichthyosis, Lipid Metabolism Disorders, Lipidoses, Nutritional and Metabolic Diseases and Conditions, Sjogren's Syndrome, Sjogren-Larsson Syndrome, Skin Abnormalities, Skin Diseases and Conditions, Skin and Connective Tissue Diseases and Conditions Keywords: Autoimmune Diseases and Conditions; Biochemicals; Biochemistry; Chemicals; Congenital Abnormalities; Genetic Diseases and Conditions; Genetic Skin Diseases and Conditions; Health and Medicine; Ichthyosis; Keratosis; Lipid Metabolism Disorders; Lipidoses; Nutritional and Metabolic Diseases and Conditions; Sjogren's Syndrome; Sjogren-Larsson Syndrome; Skin Abnormalities; Skin Diseases and Conditions; Skin and Connective Tissue Diseases and Conditions EN Autoimmune Diseases and Conditions Biochemicals Biochemistry Chemicals Congenital Abnormalities Genetic Diseases and Conditions Genetic Skin Diseases and Conditions Health and Medicine Ichthyosis Keratosis Lipid Metabolism Disorders Lipidoses Nutritional and Metabolic Diseases and Conditions Sjogren's Syndrome Sjogren-Larsson Syndrome Skin Abnormalities Skin Diseases and Conditions Skin and Connective Tissue Diseases and Conditions 275 275 1 07/10/23 20230714 NES 230714 2023 JUL 14 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Research findings on Sjogren's syndrome are discussed in a new report. [Extracted from the article]

Keywords: Montreal; Canada; North and Central America; Biological Factors; Biological Pigments; Cells; Central Nervous System Diseases and Conditions; Ceroid; Genetics; Health and Medicine; Inborn Brain Diseases and Conditions; Inborn Errors Metabolism; Lipid Metabolism Disorders; Lipidoses; Lipofuscin; Metabolic; Metabolic Diseases and Conditions; Nervous System Diseases and Conditions; Neuronal Ceroid Lipofuscinoses; Neurons; Nutritional and Metabolic Diseases and Conditions; Pathology; Peroxisomal Diseases and Conditions EN Montreal Canada North and Central America Biological Factors Biological Pigments Cells Central Nervous System Diseases and Conditions Ceroid Genetics Health and Medicine Inborn Brain Diseases and Conditions Inborn Errors Metabolism Lipid Metabolism Disorders Lipidoses Lipofuscin Metabolic Metabolic Diseases and Conditions Nervous System Diseases and Conditions Neuronal Ceroid Lipofuscinoses Neurons Nutritional and Metabolic Diseases and Conditions Pathology Peroxisomal Diseases and Conditions 510 510 1 06/19/23 20230623 NES 230623 2023 JUN 23 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Current study results on Nutritional and Metabolic Diseases and Conditions - Peroxisomal Diseases and Conditions have been published. For more information on this research see: Sca34 Caused By Elovl4 L168f Mutation Is a Lysosomal Lipid Storage Disease Sharing Pathology Features With Neuronal Ceroid Lipofuscinosis and Peroxisomal Disorders. [Extracted from the article]

Keywords: Cerebrotendinous Xanthomatosis; Genetics; Health and Medicine; Lipid Metabolism Disorders; Metabolic Diseases and Conditions; Nutritional and Metabolic Diseases and Conditions; Xanthomatosis EN Cerebrotendinous Xanthomatosis Genetics Health and Medicine Lipid Metabolism Disorders Metabolic Diseases and Conditions Nutritional and Metabolic Diseases and Conditions Xanthomatosis 702 702 1 06/05/23 20230609 NES 230609 2023 JUN 9 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Current study results on cerebrotendinous xanthomatosis have been published. Cerebrotendinous Xanthomatosis, Genetics, Health and Medicine, Metabolic Diseases and Conditions, Nutritional and Metabolic Diseases and Conditions, Xanthomatosis, Lipid Metabolism Disorders. [Extracted from the article]

Keywords for this news article include: Piscataway, New Jersey, United States, North and Central America, Biological Factors, Biological Pigments, Ceroid, Health and Medicine, Lipid Metabolism Disorders, Lipidoses, Lipofuscin, Nervous System Diseases and Conditions, Neuronal Ceroid Lipofuscinoses, Nutritional and Metabolic Diseases and Conditions, Rutgers University - The State University of New Jersey. Keywords: Piscataway; State:New Jersey; United States; North and Central America; Biological Factors; Biological Pigments; Ceroid; Health and Medicine; Lipid Metabolism Disorders; Lipidoses; Lipofuscin; Nervous System Diseases and Conditions; Neuronal Ceroid Lipofuscinoses; Nutritional and Metabolic Diseases and Conditions EN Piscataway State:New Jersey United States North and Central America Biological Factors Biological Pigments Ceroid Health and Medicine Lipid Metabolism Disorders Lipidoses Lipofuscin Nervous System Diseases and Conditions Neuronal Ceroid Lipofuscinoses Nutritional and Metabolic Diseases and Conditions 525 525 1 05/22/23 20230526 NES 230526 2023 MAY 26 (NewsRx) -- By a News Reporter-Staff News Editor at Drug Week -- Current study results on Nervous System Diseases and Conditions - Neuronal Ceroid Lipofuscinoses have been published. Piscataway, State:New Jersey, United States, North and Central America, Biological Factors, Biological Pigments, Ceroid, Health and Medicine, Lipid Metabolism Disorders, Lipofuscin, Lipidoses, Nervous System Diseases and Conditions, Neuronal Ceroid Lipofuscinoses, Nutritional and Metabolic Diseases and Conditions. [Extracted from the article]

Chicago, State:Illinois, United States, North and Central America, Antihyperlipidemic Agents, Biological Factors, Biological Pigments, Carboxylic Acids, Ceroid, Clofibric Acid, Drugs and Therapies, Fibric Acid Derivatives, Gemfibrozil, Gemfibrozil Therapy, Health and Medicine, Lipid Metabolism Disorders, Lipofuscin, Nervous System Diseases and Conditions, Neuronal Ceroid Lipofuscinoses, Lipidoses, Nutritional and Metabolic Diseases and Conditions, Organic Chemicals, Pentanoic Acids, Pharmaceuticals Keywords: Chicago; State:Illinois; United States; North and Central America; Antihyperlipidemic Agents; Biological Factors; Biological Pigments; Carboxylic Acids; Ceroid; Clofibric Acid; Drugs and Therapies; Fibric Acid Derivatives; Gemfibrozil; Gemfibrozil Therapy; Health and Medicine; Lipid Metabolism Disorders; Lipidoses; Lipofuscin; Nervous System Diseases and Conditions; Neuronal Ceroid Lipofuscinoses; Nutritional and Metabolic Diseases and Conditions; Organic Chemicals; Pentanoic Acids; Pharmaceuticals EN Chicago State:Illinois United States North and Central America Antihyperlipidemic Agents Biological Factors Biological Pigments Carboxylic Acids Ceroid Clofibric Acid Drugs and Therapies Fibric Acid Derivatives Gemfibrozil Gemfibrozil Therapy Health and Medicine Lipid Metabolism Disorders Lipidoses Lipofuscin Nervous System Diseases and Conditions Neuronal Ceroid Lipofuscinoses Nutritional and Metabolic Diseases and Conditions Organic Chemicals Pentanoic Acids Pharmaceuticals 1676 1676 1 05/08/23 20230512 NES 230512 2023 MAY 12 (NewsRx) -- By a News Reporter-Staff News Editor at Drug Week -- New research on Nervous System Diseases and Conditions - Neuronal Ceroid Lipofuscinoses is the subject of a report. According to the news reporters, the research concluded: "These results suggest that activation of PPARa may be beneficial for JNCL and that gemfibrozil may be repurposed for the treatment of this incurable disease.". [Extracted from the article]

Keywords: Biomedicine; Bone Marrow Cells; Cell Transplantation; Cell Transplants; Health and Medicine; Hematology; Hematopoietic; Hematopoietic Stem Cells; Infant Diseases and Conditions; Lipid Metabolism Disorders; Lipidoses; Lysosomal Storage Diseases and Conditions; Nutritional and Metabolic Diseases and Conditions; Stem Cell Research; Surgery; Transplant Medicine; Wolman Disease EN Biomedicine Bone Marrow Cells Cell Transplantation Cell Transplants Health and Medicine Hematology Hematopoietic Hematopoietic Stem Cells Infant Diseases and Conditions Lipid Metabolism Disorders Lipidoses Lysosomal Storage Diseases and Conditions Nutritional and Metabolic Diseases and Conditions Stem Cell Research Surgery Transplant Medicine Wolman Disease 2023 MAR 9 (NewsRx) -- By a News Reporter-Staff News Editor at Stem Cell Week -- Researchers detail new data in Wolman disease. Biomedicine, Bone Marrow Cells, Cell Transplantation, Cell Transplants, Health and Medicine, Hematology, Hematopoietic, Hematopoietic Stem Cells, Infant Diseases and Conditions, Lipid Metabolism Disorders, Lipidoses, Lysosomal Storage Diseases and Conditions, Nutritional and Metabolic Diseases and Conditions, Stem Cell Research, Surgery, Transplant Medicine, Wolman Disease. [Extracted from the article]

The article discuses the importance of Early nutritional support in Feline hepatic lipidosis (FHL), a metabolic liver disease common in obese cats undergoing rapid weight loss. Topics include FHL is characterized by the accumulation of triglycerides in hepatocytes leading to intrahepatic cholestasis and impaired liver function; and Nutritional support must be started between 12 and 24 hours after stabilization, calculated based on resting energy needs, with high energy and protein diets.

Keywords: Biological Factors; Biological Pigments; Biomarkers; Cells; Ceroid; Diagnostics and Screening; Drugs and Therapies; Enzyme Replacement Therapy; Health and Medicine; Lipid Metabolism Disorders; Lipidoses; Lipofuscin; Nervous System Diseases and Conditions; Neuronal Ceroid Lipofuscinoses; Neurons; Nutritional and Metabolic Diseases and Conditions EN Biological Factors Biological Pigments Biomarkers Cells Ceroid Diagnostics and Screening Drugs and Therapies Enzyme Replacement Therapy Health and Medicine Lipid Metabolism Disorders Lipidoses Lipofuscin Nervous System Diseases and Conditions Neuronal Ceroid Lipofuscinoses Neurons Nutritional and Metabolic Diseases and Conditions 2075 2075 1 03/24/23 20230217 NES 230217 2023 FEB 17 (NewsRx) -- By a News Reporter-Staff News Editor at Drug Week -- Investigators publish new report on neuronal ceroid lipofuscinoses. According to the news reporters, the research concluded: "Here, we proposed the use of the proportion of cells with abnormal storage as a biomarker of response to therapy in CLN2. Biological Factors, Biological Pigments, Biomarkers, Cells, Ceroid, Diagnostics and Screening, Drugs and Therapies, Enzyme Replacement Therapy, Health and Medicine, Lipid Metabolism Disorders, Lipofuscin, Nervous System Diseases and Conditions, Neuronal Ceroid Lipofuscinoses, Neurons, Nutritional and Metabolic Diseases and Conditions, Lipidoses. [Extracted from the article]

Universita Cattolica del Sacro Cuore Researcher Yields New Study Findings on Neuronal Ceroid Lipofuscinoses (Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated ...) Keywords: Universita Cattolica del Sacro Cuore; Rome; Italy; Europe; Genetics; Lipidoses; Biological Factors; Biological Pigments; Health and Medicine; Diagnostics and Screening; Lipid Metabolism Disorders; Neuronal Ceroid Lipofuscinoses; Nervous System Diseases and Conditions; Nutritional and Metabolic Diseases and Conditions; Ceroid; Lipofuscin EN Universita Cattolica del Sacro Cuore Rome Italy Europe Genetics Lipidoses Biological Factors Biological Pigments Health and Medicine Diagnostics and Screening Lipid Metabolism Disorders Neuronal Ceroid Lipofuscinoses Nervous System Diseases and Conditions Nutritional and Metabolic Diseases and Conditions Ceroid Lipofuscin New study results on neuronal ceroid lipofuscinoses have been published. Universita Cattolica del Sacro Cuore, Rome, Italy, Europe, Genetics, Biological Factors, Biological Pigments, Health and Medicine, Diagnostics and Screening, Lipid Metabolism Disorders, Neuronal Ceroid Lipofuscinoses, Nervous System Diseases and Conditions, Nutritional and Metabolic Diseases and Conditions, Ceroid, Lipidoses, Lipofuscin. [Extracted from the article]

For more information on this research see: The Antifungal Antibiotic Filipin as a Diagnostic Tool of Cholesterol Alterations in Lysosomal Storage Diseases and Neurodegenerative Disorders. Keywords: Diagnostics and Screening; Filipin; Health and Medicine; Hydrocarbons; Inborn Errors Metabolism; Lysosomal Storage Diseases and Conditions; Macrolides; Metabolic Diseases and Conditions; Nutritional and Metabolic Diseases and Conditions; Organic Chemicals; Polyenes EN Diagnostics and Screening Filipin Health and Medicine Hydrocarbons Inborn Errors Metabolism Lysosomal Storage Diseases and Conditions Macrolides Metabolic Diseases and Conditions Nutritional and Metabolic Diseases and Conditions Organic Chemicals Polyenes 2023 FEB 10 (NewsRx) -- By a News Reporter-Staff News Editor at Health & Medicine Week -- New research on lysosomal storage diseases and conditions is the subject of a new report. [Extracted from the article]

The biological membranes of Trypanosoma brucei contain a complex array of phospholipids that are synthesized de novo from precursors obtained either directly from the host, or as catabolised endocytosed lipids. This paper describes the use of nanoflow electrospray tandem mass spectrometry and high resolution mass spectrometry in both positive and negative ion modes, allowing the identification of ~500 individual molecular phospholipids species from total lipid extracts of cultured bloodstream and procyclic form T. brucei. Various molecular species of all of the major subclasses of glycerophospholipids were identified including phosphatidylcholine, phosphatidylethanolamine, phosphatidylserine, and phosphatidylinositol as well as phosphatidic acid, phosphatidylglycerol and cardolipin, and the sphingolipids sphingomyelin, inositol phosphoceramide and ethanolamine phosphoceramide. The lipidomic data obtained in this study will aid future biochemical phenotyping of either genetically or chemically manipulated commonly used bloodstream and procyclic strains of Trypanosoma brucei. Hopefully this will allow a greater understanding of the bizarre world of lipids in this important human pathogen. [ABSTRACT FROM AUTHOR]

The article discusses the symptoms of hepatic lipidosis or fatty liver disease in cats. It notes that a cat may be suffering from hepatic lipidosis if it starts avoiding food. It cites serious diseases that could result in hepatic lipidosis including cholangiohepatitis or inflammation of the liver, gall bladder and bile duct, pancreatitis, and cancer. It notes that fatty liver disease is more prevalent in middle-aged and older cats.

The article presents a case study of a 61-year-old woman developed exacerbation of lipid storage myopathy during treatment with simvastatin. It offers overview of the condition of the patient and the treatment they receive that caused the complications. It also describes the therapeutic interventions given to the patient that helped improved her condition.

In this article, a reader of the periodical shares her experience of giving milk thistle to her cat Frannie who was diagnosed with feline hepatic lipidosis; and mentions its role in making improvements in liver functioning of the cat.

The article discusses feline obesity and the prevention of hepatic lipidosis and feline diabetes. Doctor of Veterinary Medicine Elizabeth Hodgkins, author of "Your Cat: Simple New Secrets to a Longer, Stronger Life," elaborates on the importance of low-carbohydrate diet in minimizing diabetes risk. It also presents three essential things to know about feline weight management. It also suggests to keep indoor cats active.

Se presenta una imagen de un caso de xantomatosis cerebrotendinosa (XCT), una enfermedad lipídica que produce xantomas tendinosos, cataratas precoces y disfunción neurológica progresiva. Se ha encontrado atrofia supra e infratentorial y alteraciones de señal en sustancia blanca periventricular a través de estudios de neuroimagen por tomografía computarizada y resonancia magnética. Se presenta un caso de una mujer de 33 años con lesiones parecidas a xantomas en los tendones aquíleos.

Discusses research being done on the adverse effect of chloroquine treatment in a female patient with rheumatoid arthritis. Reference to a study by D. Albay and colleagues published in the May 2005 issue of "Modern Pathology"; Medical history of the patient; Development of lipoidosis that mimicks Fabry disease.

The article presents case reports of three patients who were enrolled in a methadone substitution program and developed renal lipidosis after therapy with methadone.