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A patent has been issued for methods to treat mucopolysaccharidosis type II or deficiency in iduronate-2-sulfatase using a recombinant adeno-associated virus (AAV) vector encoding iduronate-2-sulfatase. The patent discusses the challenges in addressing neurological manifestations of lysosomal storage diseases and the potential of gene therapy using AAV vectors to treat these conditions. The University of Minnesota is the assignee for this patent, which aims to deliver therapeutic gene products to the central nervous system to prevent, inhibit, or treat symptoms associated with these diseases. [Extracted from the article]

A recent study from the Department of Otolaryngology in Lodz, Poland, highlights the importance of early diagnosis and treatment for patients with mucopolysaccharidoses (MPS), a rare lysosomal disease. The research emphasizes the role of otolaryngologists in recognizing common symptoms of MPS, such as otitis media, craniofacial dysmorphia, and hearing loss, to facilitate timely intervention. The study reviews available treatments for MPS, including hematopoietic stem cell transplantation and enzyme replacement therapy, while also exploring the potential of gene therapy as a promising approach. Researchers stress the need for increased awareness among healthcare professionals to improve outcomes for individuals with MPS. [Extracted from the article]

A patent application titled "Targeted Delivery Of Therapeutic Enzymes" was published online by inventors from Russia. The application focuses on using therapeutic enzymes to treat lysosomal storage diseases, specifically mucopolysaccharidoses, by coupling the enzymes with a transport element to facilitate delivery through the blood-brain barrier. The compound described in the patent aims to address enzyme deficiencies in these diseases, which lead to the accumulation of carbohydrates in cells and tissues, causing various health complications. The patent outlines specific amino acid sequences and methods for treating lysosomal storage diseases with neurological components. [Extracted from the article]

The article discusses research findings on myxedema coma, a rare life-threatening form of hypothyroidism, particularly focusing on cases in Japan. The study conducted by the Department of Metabolic Medicine found that a significant proportion of myxedema coma cases in Japan were caused by seronegative primary hypothyroidism. The researchers managed three cases of myxedema coma from 2010 to 2022, all of which were negative for thyroid autoantibodies. The study highlights the importance of recognizing this specific presentation of myxedema coma in clinical practice. [Extracted from the article]

A recent report from the Ann and Robert H. Lurie Children's Hospital of Chicago discusses the findings of newborn screening for mucopolysaccharidosis type II (MPS II) in over half a million infants. The study identified eight cases of MPS II, with a higher prevalence of attenuated cases than previously recognized. The research suggests that MPS II may be more common than initially thought, highlighting the importance of newborn screening for early detection and intervention. [Extracted from the article]

A recent systematic literature review conducted by researchers at Takeda Development Center Americas Inc. focused on the global status of newborn screening for Mucopolysaccharidosis II (Hunter syndrome). The study found that until recently, only Taiwan and two US states (Illinois and Missouri) formally screened newborns for MPS II, with pilot programs in other regions. The research highlighted the importance of newborn screening for early detection and management of this rare genetic disorder, emphasizing the need for further studies on the perspectives of families affected by MPS II. [Extracted from the article]

A recent study conducted in Neuilly-sur-Seine, France, focused on mucopolysaccharidosis type IIIA, a lysosomal storage disorder affecting the central nervous system. The research introduced a novel tandem mass spectrometry method to assess heparan-N-sulphatase activity in pediatric cerebrospinal fluid, revealing significantly reduced levels in individuals with the disorder. The study suggests that this new method could be a valuable tool for evaluating the efficacy of future therapeutic interventions targeting sulphatase activity restoration in the brain. [Extracted from the article]

Researchers from the Department of Medicine published a case study on a 10-year-old female with Scheie syndrome, a mild variant of mucopolysaccharidosis type I (MPS I), who was diagnosed with a rare intracranial tumor. The study highlighted the importance of considering brain tumors in children with mucopolysaccharidoses presenting signs of increased intracranial pressure. Prompt diagnosis and management are crucial to prevent severe neurological consequences. This research sheds light on the complex nature of mucopolysaccharidoses and the challenges in managing these disorders, especially in children with intellectual disabilities. [Extracted from the article]

A recent study conducted at MacKay Memorial Hospital in Taipei, Taiwan, has been published on the topic of mucopolysaccharidoses (MPS). MPS is a group of rare lysosomal storage disorders caused by a lack of specific lysosomal enzymes, resulting in the accumulation of glycosaminoglycans in various tissues and organs. The study focuses on the involvement of pediatric otolaryngologists in managing MPS, particularly in relation to ear, nose, and throat disorders that are common symptoms in MPS patients. The research also explores potential treatment options and emphasizes the importance of a smooth transition from pediatric to adult care for MPS patients. [Extracted from the article]

A recent study conducted by researchers at Link Campus University in Rome, Italy, has shed light on myxedema, a potentially life-threatening condition associated with severe hypothyroidism. The researchers found that myxedema can also occur in hyperthyroidism, although the exact cause and mechanism of this paradoxical situation are not yet clear. The study analyzed body fluid distribution in 103 thyroid patients and found that differences in fluid body composition were more evident in hyperthyroidism than in hypothyroidism. The researchers concluded that myxedema represents a hormetic response to thyroid hormones and that bioelectrical impedance analysis (BIA) can be a valuable method for evaluating and monitoring body fluid composition in severe thyroid dysfunctions. [Extracted from the article]

A case report and review from researchers in Eastern Cape, South Africa, discusses a rare presentation of ascites in severe hypothyroidism, known as myxedema ascites. Ascites is a condition characterized by the accumulation of fluid in the abdominal cavity, and it occurs in less than 4% of individuals with hypothyroidism. The report describes the case of a 29-year-old female with profound hypothyroidism and cardiac insufficiency who presented with massive ascites. Treatment with high-dose levothyroxine resulted in improvement in both thyroid function and ascites. The researchers suggest further investigation into the etiology, diagnostic criteria, and management strategies for ascites in the context of hypothyroidism. [Extracted from the article]

A recent study conducted at the University of North Carolina Chapel Hill examined the effects of early treatment with intravenous idursulfase and intrathecal idursulfase on cognitive function in siblings with Mucopolysaccharidosis II (MPS II). MPS II is a rare, X-linked, heterogeneous lysosomal storage disease that often leads to cognitive impairment. The study found that initiating intrathecal enzyme replacement therapy at an early age may help stabilize or slow cognitive decline in some patients with neuronopathic MPS II. These findings suggest the potential benefits of early intervention for individuals with this condition. [Extracted from the article]

A recent study conducted by researchers at the Shanghai Health Development Research Center in China examined the medical service utilization, economic burden, and quality of life of patients with mucopolysaccharidosis (MPS). The study found that MPS patients in China often face delayed diagnoses, limited treatment options, and high healthcare costs, which significantly impact their quality of life. The research revealed that the average age at first visit to a doctor for MPS symptoms was 3.65 years, with a mean diagnostic delay of 9.42 months. Only 32.78% of patients had received specific treatments, and their quality of life scores were significantly lower than the Chinese norms. The study concludes that there is an urgent need to improve early detection and diagnosis, increase access to specialized treatment, and reduce the economic burden for MPS patients in China. [Extracted from the article]

A recent study explored a new method of administering enzyme replacement therapy for mucopolysaccharidosis type II, a hereditary lysosomal storage disease. The study focused on the use of a nebulizer in combination with intravenous treatment to improve delivery of the enzyme idursulfase to the lungs. While the combination treatment increased enzyme activity in the liver, it did not lead to sustained increase in enzyme activity in the lungs. However, it did show persistent modifications in the glycosaminoglycan degradation pathway, suggesting potential additional benefits to intravenous administration alone. This study has not yet undergone peer review. [Extracted from the article]

A recent study conducted by the University of Gdansk in Poland has identified a new disease called mucopolysaccharidosis-plus syndrome (MPSPS). This syndrome presents symptoms similar to mucopolysaccharidosis (MPS), but also includes additional features such as congenital heart defects and kidney and hematopoietic system disorders. MPSPS is a rare autosomal recessive disease caused by a specific mutation in the VPS33A gene. The study explores the pathomechanisms and symptoms of MPSPS and discusses whether it should be classified as a type of MPS or a separate disease. [Extracted from the article]

A recent study conducted by researchers from the University of Gdansk in Poland explores the classification of mucopolysaccharidosis type IIIE (MPS IIIE) as a human disease or a diagnostic pitfall. MPS is a group of 12 metabolic disorders characterized by the accumulation of glycosaminoglycans (GAGs) within lysosomes due to enzyme defects. The researchers argue that pathogenic variants in the ARSG gene, which are associated with MPS IIIE in animals, also occur in humans and may be linked to a different disorder called Usher syndrome type IV. The study highlights the challenges in diagnosing and classifying inherited metabolic diseases. [Extracted from the article]

A recent report from the University of North Carolina discusses the potential use of fluoxetine, an antidepressant, as a treatment for mucopolysaccharidosis IIIA (MPS IIIA), a lysosomal storage disorder. The study involved a single pediatric patient who was treated with off-label fluoxetine for 12 months. The treatment was well-tolerated, with the patient experiencing improved sleep and no serious adverse effects. These findings suggest that further research is warranted to explore the potential of fluoxetine as a therapy for MPS IIIA. [Extracted from the article]

The article focuses on a study conducted at the Centro Hospitalar Universitario de Sao Joao that explores novel fundoscopic findings in patients with Mucopolysaccharidosis Type VI (MPS VI). It reveals new ocular manifestations, particularly scleral deposits of glycosaminoglycans, using advanced imaging techniques like fundus photography and enhanced depth imaging optical coherence tomography (EDI-OCT).

The article focuses on a patent application for a pharmaceutical composition aimed at treating mucopolysaccharidosis type I (MPS I). Topics include the development of a fusion protein combining anti-human transferrin receptor antibody with human α-L-iduronidase, its method of administration, and its potential to cross the blood-brain barrier to treat central nervous system disorders associated with MPS I.

This article discusses a case study on mucopolysaccharidosis type I, also known as Hurler syndrome, a rare lysosomal storage disorder. The study focuses on a 1-year-old male child who presented with symptoms including increasing head size, bilateral large inguinoscrotal swellings, and developmental delays. The child was diagnosed with Hurler syndrome through genetic testing and enzyme analysis. The article highlights the challenges of surgical management in patients with mucopolysaccharidosis type I and emphasizes the importance of timely medical and surgical treatment for improved prognosis. [Extracted from the article]

A recent study conducted by Harvard Medical School provides new data on mucopolysaccharidoses, specifically focusing on mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome. MPS II is a rare genetic disorder caused by a deficiency in the enzyme iduronate-2-sulfatase. The study found that enzyme replacement therapy (ERT) with intravenous idursulfase showed improved short- and long-term clinical outcomes for patients with MPS II, particularly if treatment is initiated early in life. The research provides valuable insights into the efficacy and safety of ERT for different populations of patients with MPS II, informing the overall management of the disease. [Extracted from the article]

The article reports on findings from the University of North Carolina Chapel Hill regarding mucopolysaccharidoses (MPS). Topics include the challenges of developing therapeutics for ultra-rare MPS disorders due to their clinical heterogeneity and the risk of irreversible brain damage in affected children, the FDA's guidance on using biomarkers for accelerated approval in rare diseases, and the discussions from a 2024 public workshop on utilizing cerebrospinal fluid heparan as a biomarker.

Researchers from Pontificia University Javeriana in Bogota, Colombia have identified potential pharmacological chaperones (PCs) for the treatment of Mucopolysaccharidosis type IIIB (MPS IIIB), a rare inherited disease. MPS IIIB is caused by mutations in the gene encoding the lysosomal enzyme N-acetyl-alpha-glucosaminidase (NAGLU), resulting in reduced enzyme activity. The researchers used a drug repurposing approach and identified atovaquone and piperaquine as potential PCs. These PCs were found to bind to NAGLU and restore enzymatic activity in MPS IIIB fibroblasts. This study provides new insights into potential therapeutic alternatives for MPS IIIB and other protein deficiency diseases. [Extracted from the article]

Researchers from the All India Institute of Medical Sciences (AIIMS) have published a study on ganglion cysts, which are cystic, tumor-like lesions that are surrounded by dense connective tissue filled with gelatinous fluid. The study presents two cases of ganglion cysts originating from the anterior cruciate ligament (ACL) in the knee, with one case causing painful restriction of flexion and the other causing chronic pain unrelated to motion restriction. Magnetic resonance imaging (MRI) can be used to diagnose this uncommon condition, and arthroscopic cyst debridement or aspiration can be used for treatment without causing ligament damage. The study concludes that ganglion cysts of the ACL should be considered as a possible cause of knee discomfort and can be successfully treated with arthroscopic debridement. [Extracted from the article]

A recent study conducted at Farwaniya Hospital in Kuwait aimed to screen newborns for mucopolysaccharidosis type I (MPS I), a lysosomal storage disorder. The study screened 618 Kuwaiti newborns over a 12-month period and found that 20 had deficient enzyme activity associated with MPS I. Additionally, one female infant with MPS I was diagnosed outside of the study. The researchers concluded that screening newborns in all maternity hospitals in Kuwait is necessary to accurately determine the incidence of MPS I and support the inclusion of MPS I in the national newborn screening program for early treatment initiation. [Extracted from the article]

This article provides information about a newly launched clinical trial, NCT06488924, conducted by JCR Pharmaceuticals Co., Ltd. The trial aims to evaluate the safety and explore the efficacy of a study drug, JR-446, in the treatment of patients with Mucopolysaccharidosis Type IIIB (MPS IIIB). The trial is an open-label Phase I/II study and will assess the tolerability of JR-446 and measure changes in heparan sulfate levels in cerebrospinal fluid (CSF). The study is currently not recruiting participants and is expected to be completed by September 30, 2029. [Extracted from the article]

Researchers from King Saud University in Riyadh, Saudi Arabia, have reported a rare case of an interosseous ganglion cyst in the upper ribs of a young female patient. The patient presented with cough and hemoptysis, along with a large painful lump on her chest. The cyst was confirmed through radiological and pathological examinations and was successfully treated with surgical resection. This case is unique as there are no reported instances of interosseous ganglion cysts in the ribs with a similar presentation. For more information, readers can refer to the article published in the Annals of Thoracic Medicine. [Extracted from the article]

A recent study conducted in Karnataka, India, examined the oral health of children diagnosed with mucopolysaccharidosis (MPS), a group of lysosomal storage disorders. The study found that children with MPS had a higher incidence of dental caries, more acidic saliva, and a higher microbial load compared to healthy children. These findings highlight the importance of regular dental evaluation, prevention, and treatment for children with MPS. The study provides valuable insights into the oral manifestations of MPS and emphasizes the need for integrated dental care in their healthcare regimen. [Extracted from the article]

A recent study conducted by researchers in the Department of Pediatric Cardiology examined the effects of glycosaminoglycan (GAG) accumulation on the large vessels of patients with mucopolysaccharidosis (MPS). The study found that aortic elasticity properties were impaired and aortic stiffness increased in the MPS group. However, enzyme replacement therapy (ERT) was found to have positive effects on cardiac function, aortic diameter, and aortic stiffness in MPS patients. The study also noted a correlation between increased left ventricular mass and impaired ventricular geometric structure with increased aortic stiffness. [Extracted from the article]

A recent study conducted in Copenhagen, Denmark explored the associations between the use of different medications for bipolar disorder and the risk of physical disorders. The study found that sustained use of lithium, lamotrigine, and valproate did not significantly increase the risk of developing physical disorders, except for myxedema, which may be due to detection bias. The research, which used real-world observational register-based data, concluded that lithium is generally safe in terms of physical health. This study provides valuable insights for individuals with bipolar disorder and their healthcare providers when considering medication options. [Extracted from the article]

A recent preprint study investigated the role of extracellular vesicles (EVs) released by microglial cells in mucopolysaccharidosis type III (MPSIII), a neurodegenerative disorder. The study found that these EVs contained specific molecules related to neuroinflammation and neurodevelopment pathways. When cortical neurons were treated with these EVs, they exhibited alterations in their somato-dendritic compartments. This research provides insights into the potential mechanisms underlying MPSIII neuropathology and may contribute to the development of biomarkers for evaluating emerging therapies. However, it is important to note that this study has not yet undergone peer review. [Extracted from the article]

A recent study conducted at Soonchunhyang University Hospital Bucheon in South Korea has presented new data on ganglion cysts. Ganglion cysts are benign masses filled with high-viscosity mucinous fluid that can originate from tendons, nerves, or joint capsules. The study reported a rare case of a 74-year-old man with both peroneal and tibial nerve palsies caused by a ganglion cyst in the popliteal area. After successful surgical decompression and rehabilitation, the patient's symptoms improved with no recurrence. This research provides valuable insights into the diagnosis and treatment of ganglion cysts. [Extracted from the article]

REGENXBIO Inc. has been issued a patent for a method of treating mucopolysaccharidosis II (MPS II), also known as Hunter syndrome. MPS II is a rare genetic disease caused by a deficiency of the enzyme iduronate-2-sulfatase. The patent describes a method of delivering recombinant human iduronate-2-sulfatase (rhIDS) to the central nervous system (CNS) and liver through gene therapy or enzyme replacement therapy (ERT). The goal is to correct the enzymatic defect in the recipient cells and reduce the need for systemic treatment. This patent offers potential advancements in the treatment of MPS II. [Extracted from the article]

A recent study conducted at the University of Uppsala in Sweden has explored potential treatments for mucopolysaccharidoses, a genetic disorder characterized by the accumulation of glycosaminoglycans (GAGs) in cells. The researchers focused on inhibiting the production of iduronic acid, a key component of GAGs, as a potential therapeutic approach. Through virtual screening and testing, they identified two compounds that effectively inhibited the production of iduronic acid and reduced GAG accumulation in cells. These findings suggest that these compounds could be further developed as potential drugs for treating mucopolysaccharidoses. [Extracted from the article]

A recent study conducted by researchers at National Taiwan University Hospital and School of Medicine has shed light on mucopolysaccharidoses (MPS) type II, a rare genetic disorder characterized by the accumulation of glycosaminoglycans (GAGs). The study utilized induced pluripotent stem cells (iPSCs) to generate mature neurons and investigate the neurodegeneration-related pathways in MPS II. The researchers identified dysregulation in three major signaling pathways, including Wnt/b-catenin, p38 MAP kinase, and calcium pathways, in mature MPS II neurons. Additionally, they found that a small-molecule glycogen synthase kinase-3b inhibitor showed promise in rescuing neuronal survival and function. These findings contribute to a better understanding of the mechanisms underlying MPS II and offer potential therapeutic targets for the disease. [Extracted from the article]