50 results on '"Friedreich ataxia"'
Search Results
2. Measurement Properties of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia
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Potashman, Michele H., Popoff, Evan, Powell, Lauren C., Beiner, Melissa Wolfe, Mackenzie, Ainsley, Coric, Vlad, Subramony, Sub, Synofzik, Matthis, Schmahmann, Jeremy, and L’Italien, Gilbert
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- 2025
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3. Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia
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Sperelakis-Beedham, Brian, Gitiaux, Cyril, Rajaoba, Marine, Magen, Maryse, Derive, Nicolas, Chansard, Jerome, de Sainte Agathe, Jean-Madeleine, Maurin, Marie-Laure, Assouline, Zahra, Barnerias, Christine, Desguerre, Isabelle, Steffann, Julie, and Barcia, Giulia
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- 2025
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4. Poincaré plot analysis of electrocardiogram uncovers beneficial effects of omaveloxolone in a mouse model of Friedreich ataxia
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Figueroa, Francisco, Salinas, Lili, Thai, Phung N., Montgomery, Claire B., Chiamvimonvat, Nipavan, Cortopassi, Gino, and Dedkova, Elena N.
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- 2025
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5. Friedreich Ataxia Global Clinical Trials Review 2024: Country (G7 & E7), Trial Status, Trial Phase, Sponsor Type and End-Point Status
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Ataxia -- Reports ,Clinical trials -- Reports ,General interest ,News, opinion and commentary - Abstract
Dublin: Research and Markets has issued the following news release: The 'Friedreich Ataxia - Global Clinical Trials Review, 2024' clinical trials has been added to ResearchAndMarkets.com's offering. This report provides [...]
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- 2025
6. Report Summarizes Friedreich Ataxia Study Findings from Texas A&M University (Harshly Oxidized Activated Charcoal Enhances Protein Persulfidation with Implications for Neurodegeneration as Exemplified by Friedreich's Ataxia)
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Ataxia -- Research -- Reports ,Health - Abstract
2025 JAN 17 (NewsRx) -- By a News Reporter-Staff News Editor at Health & Medicine Week -- Data detailed on friedreich ataxia have been presented. According to news reporting from [...]
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- 2025
7. Chapter 6 - Friedreich ataxia
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Pandolfo, Massimo
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- 2025
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8. Friedreich Ataxia
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Kass, Joseph S.
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- 2025
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9. PTC Therapeutics Announces Vatiquinone NDA Submission to FDA for the Treatment of Children and Adults Living with Friedreich Ataxia.
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PTC Therapeutics has submitted an NDA to the FDA for vatiquinone, a potential treatment for Friedreich ataxia in children and adults. The submission is based on data from clinical studies showing significant and durable evidence of slowing disease progression and safety across all age groups. This marks the fourth approval application PTC has submitted to the FDA in 2025, following successful approval of their AADC gene therapy. [Extracted from the article]
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- 2025
10. Report Summarizes Friedreich Ataxia Study Findings from Texas A&M University (Harshly Oxidized Activated Charcoal Enhances Protein Persulfidation with Implications for Neurodegeneration as Exemplified by Friedreich's Ataxia).
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- 2025
11. Intracellular calcium dysregulation in heart and brain diseases: Insights from induced pluripotent stem cell studies.
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Zhang, Huayang, Ren, Xueming, Wu, Chunyu, He, Xinsen, Huang, Zhengxuan, Li, Yangpeng, Liao, Lei, Xiang, Jie, Li, Miaoling, and Wu, Lin
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- 2025
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12. Hypoxia as a medicine.
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Rogers, Robert S. and Mootha, Vamsi K.
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Oxygen is essential for human life, yet a growing body of preclinical research is demonstrating that chronic continuous hypoxia can be beneficial in models of mitochondrial disease, autoimmunity, ischemia, and aging. This research is revealing exciting new and unexpected facets of oxygen biology, but translating these findings to patients poses major challenges, because hypoxia can be dangerous. Overcoming these barriers will require integrating insights from basic science, high-altitude physiology, clinical medicine, and sports technology. Here, we explore the foundations of this nascent field and outline a path to determine how chronic continuous hypoxia can be safely, effectively, and practically delivered to patients. [ABSTRACT FROM AUTHOR]
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- 2025
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13. Distribution and functional significance of KLF15 in mouse cerebellum.
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Li, Dan, Cao, Shuijing, Chen, Yanrong, Liu, Yueyan, Huo, Kugeng, Shi, Zhuangqi, Han, Shuxin, and Wang, Liecheng
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PURKINJE cells ,TRANSCRIPTION factors ,NEURAL development ,KRUPPEL-like factors ,CELL motility - Abstract
Kruppel-like factor 15 (KLF15), a member of the KLF family, is closely involved in many biological processes. However, the mechanism by which KLF15 regulates neural development is still unclear. Considering the complexity and importance of neural network development, in this study, we investigated the potent regulatory role of KLF15 in neural network development. KLF15 was detected highly expressed in the cerebellum and enriched in Purkinje cells, with a significant increase in KLF15 expression between 15 and 20 days of neural development. Knockdown of KLF15 led to loss of Purkinje cells and impaired motility in mice. Therefore, our study aims to elucidate the relationship between KLF15 and Purkinje cells in mice, may provide a new research idea for the developmental mechanism of the mouse cerebellum. [ABSTRACT FROM AUTHOR]
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- 2025
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14. Viruses and neurodegeneration: a growing concern.
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Shouman, S., Hesham, N., and Salem, T. Z.
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MEDICAL sciences ,NEURODEGENERATION ,VIRUS diseases ,COVID-19 pandemic ,ETIOLOGY of diseases - Abstract
Neurodegenerative diseases (NDDs) cause a progressive loss of neurons. Since NDDs are multifactorial, the precise etiology varies on the basis of the type of disease and patient history. Cohort studies and case studies have demonstrated a potential link between viral infections and the onset or progression of NDDs. Recent findings concerning the mechanisms by which neuropathic infections occur have provided more insights into the importance of such connections. In this review, we aim to elaborate on the occurrence of the neuropathic effects of viruses from epidemiological, clinical, and biological perspectives while highlighting potential treatments and challenges. One of the key players in viral neuropathogenesis is neuroinflammation caused by the immune response to the virus; this can occur due to both neurotropic and nonneurotropic viruses. The COVID-19 pandemic has raised concerns about whether vaccines are essential for preventing viruses or whether vaccines may play a part in exacerbating or accelerating NDDs. By classifying viruses and the common NDDs associated with them and further delving into their cellular pathways, this review provides insights to advance the development of potential treatments and diagnostic methods. [ABSTRACT FROM AUTHOR]
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- 2025
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15. Mitochondrial diseases: from molecular mechanisms to therapeutic advances.
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Wen, Haipeng, Deng, Hui, Li, Bingyan, Chen, Junyu, Zhu, Junye, Zhang, Xian, Yoshida, Shigeo, and Zhou, Yedi
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- 2025
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16. Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families.
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Cao, Yang, Zhang, Xiaolong, Lan, Lan, Li, Danyang, Li, Jin, Xie, Linyi, Xiong, Fen, Yu, Lan, Wu, Xiaonan, Wang, Hongyang, and Wang, Qiuju
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MEDICAL sciences ,MEDICAL genetics ,AUDITORY neuropathy ,LIFE sciences ,OTOACOUSTIC emissions - Abstract
Background: Non-isolated auditory neuropathy (AN), or syndromic AN, is marked by AN along with additional systemic manifestations. The diagnostic process is challenging due to its varied symptoms and overlap with other syndromes. This study focuses on two mitochondrial function-related genes which result in non-isolated AN, FDXR and TWNK, providing a summary and enrichment analysis of genes associated with non-isolated AN to elucidate the genotype-phenotype correlation and underlying mechanisms. Methods: Seven independent Chinese Han patients with mutations in FDXR and TWNK underwent comprehensive clinical evaluations, genetic testing, and bioinformatics analyses. Diagnostic assessments included auditory brainstem response and distortion product otoacoustic emissions, supplemented by other examinations. Whole exome sequencing and Sanger sequencing validated genetic findings. Pathogenicity was assessed following American College of Medical Genetics and Genomics guidelines. Genes associated with non-isolated AN were summarized from prior reports, and functional enrichment analysis was conducted using Gene Ontology databases. Results: A total of 11 variants linked to non-isolated AN were identified in this study, eight of which were novel. Patients' age of hearing loss onset ranged from 2 to 25 years, averaging 11 years. Hearing loss varied from mild to profound, with 57.1%(4/7) of patients having risk factors and 71.4%(5/7) exhibiting additional systemic symptoms such as muscle weakness, ataxia, and high arches. Functional enrichment analysis revealed that genes associated with non-isolated AN predominantly involve mitochondrial processes, affecting the central and peripheral nervous, musculoskeletal, and visual systems. Conclusion: This study identifies novel mutations in FDXR and TWNK that contribute to non-isolated AN through mitochondrial dysfunction. The findings highlight the role of mitochondrial processes in non-isolated AN, suggesting potential relevance as biomarkers for neurodegenerative diseases. Further research is required to explore these mechanisms and potential therapies. [ABSTRACT FROM AUTHOR]
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- 2025
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17. Insights into the molecular underlying mechanisms and therapeutic potential of endoplasmic reticulum stress in sensorineural hearing loss.
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Li, Guanzhen, Yang, Huiming, Zhang, Peiyuan, Guo, Yan, Yuan, Lili, Xu, Shujiao, Yuan, Yingxue, Xiong, Huabao, and Yin, Haiyan
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UNFOLDED protein response ,CELL physiology ,SENSORINEURAL hearing loss ,GENETIC mutation ,INTRACELLULAR calcium ,ENDOPLASMIC reticulum - Abstract
Sensorineural hearing loss (SNHL) is characterized by a compromised cochlear perception of sound waves. Major risk factors for SNHL include genetic mutations, exposure to noise, ototoxic medications, and the aging process. Previous research has demonstrated that inflammation, oxidative stress, apoptosis, and autophagy, which are detrimental to inner ear cells, contribute to the pathogenesis of SNHL; however, the precise mechanisms remain inadequately understood. The endoplasmic reticulum (ER) plays a key role in various cellular processes, including protein synthesis, folding, lipid synthesis, cellular calcium and redox homeostasis, and its homeostatic balance is essential to maintain normal cellular function. Accumulation of unfolded or misfolded proteins in the ER leads to endoplasmic reticulum stress (ERS) and activates the unfolded protein response (UPR) signaling pathway. The adaptive UPR has the potential to reestablish protein homeostasis, whereas the maladaptive UPR, associated with inflammation, oxidative stress, apoptosis, and autophagy, can lead to cellular damage and death. Recent evidence increasingly supports the notion that ERS-mediated cellular damage responses play a crucial role in the initiation and progression of various SNHLs. This article reviews the research advancements on ERS in SNHL, with the aim of elucidating molecular biological mechanisms underlying ERS in SNHL and providing novel insights for the treatment. [ABSTRACT FROM AUTHOR]
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- 2025
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18. Latest Developments in Gene Therapy for Heart Failure.
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Olandt, Cameron A., Kelso, Cody, Hong, Kimberly N., and Greenberg, Barry
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Purpose of Review: To describe the current state of gene transfer therapy for inherited cardiomyopathies, focusing on targets, recent experience, limitations, and challenges. Recent Findings: The use of adeno-associated viral vectors with enhanced cardiac tropism has enabled gene transfer therapy for cardiovascular diseases to advance substantially over the past decade. These vectors are now being used to deliver therapeutic genes that potentially can correct specific genetic mutations associated with heart failure, including those involving genes, such as SERCA2a, BAG3, PKP2, LAMP2, MYBPC3 and FXN, that encode proteins that are critical for normal cell function. Experience from recent clinical trials, however, underlines the need for improved methodologies and safety protocols. Despite recent success, there is a need to address existing challenges related to vector delivery, immune responses, and trial design for the field to advance. Summary: Gene transfer therapies present a promising approach for treating genetic cardiomyopathies. Addressing issues related to vector efficiency, immune reactions and trial design is essential to move the field forward. Future research should be aimed at refining existing gene transfer strategies and clinical trial design with the goal of improving outcomes in patients with genetic cardiomyopathies. [ABSTRACT FROM AUTHOR]
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- 2025
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19. Deciphering the Power of Resveratrol in Mitophagy: From Molecular Mechanisms to Therapeutic Applications.
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Liu H, Song Y, Wang H, Zhou Y, Xu M, and Xian J
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Resveratrol (RES), a natural polyphenolic compound, has garnered significant attention for its therapeutic potential in various pathological conditions. This review explores how RES modulates mitophagy-the selective autophagic degradation of mitochondria essential for maintaining cellular homeostasis. RES promotes the initiation and execution of mitophagy by enhancing PINK1/Parkin-mediated mitochondrial clearance, reducing reactive oxygen species production, and mitigating apoptosis, thereby preserving mitochondrial integrity. Additionally, RES regulates mitophagy through the activation of key molecular targets such as AMP-activated protein kinase (AMPK), the mechanistic target of rapamycin (mTOR), deacetylases (SIRT1 and SIRT3), and mitochondrial quality control (MQC) pathways, demonstrating substantial therapeutic effects in multiple disease models. We provide a detailed account of the biosynthetic pathways, pharmacokinetics, and metabolic characteristics of RES, focusing on its role in mitophagy modulation and implications for medical applications. Potential adverse effects associated with its clinical use are also discussed. Despite its promising therapeutic properties, the clinical application of RES is limited by issues of bioavailability and pharmacokinetic profiles. Future research should concentrate on enhancing RES bioavailability and developing derivatives that precisely modulate mitophagy, thereby unlocking new avenues for disease therapy., (© 2025 John Wiley & Sons Ltd.)
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- 2025
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20. Absolute Quantification of Cellular and Cell-Free Mitochondrial DNA Copy Number from Human Blood and Urinary Samples Using Real Time Quantitative PCR.
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de Menezes ECS and Malik AN
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- Humans, Mitochondria genetics, Mitochondria metabolism, DNA, Mitochondrial urine, DNA, Mitochondrial genetics, DNA, Mitochondrial blood, DNA Copy Number Variations, Cell-Free Nucleic Acids urine, Cell-Free Nucleic Acids blood, Real-Time Polymerase Chain Reaction methods, Leukocytes, Mononuclear metabolism
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Mitochondrial DNA copy number (mtDNA-CN) in human body fluids is widely used as a biomarker of mitochondrial dysfunction in common metabolic diseases. Here we describe protocols to measure cellular and/or cell free (cf)-mtDNA-CN in human peripheral blood and urine. Cellular mtDNA is located inside the mitochondria where it encodes key subunits of the respiratory complexes in mitochondria and is usually normalized with reference to the nuclear genome as the mitochondrial genome to nuclear genome ratio (Mt/N) in either whole blood, peripheral blood mononuclear cells (PBMCs), or whole urine. Cf -mtDNA is usually found outside of the mitochondria, often released following mitochondrial damage, can trigger inflammatory pathways, and is usually measured as mtDNA-CN per volume of the starting material. Here we describe how to (1) separate whole blood into PBMCs, plasma, and serum fractions and whole urine into urinary supernatant and pellet, (2) prepare DNA from each of these fractions, (3) prepare reference standards for absolute quantification, (4) carry out qPCR for either relative or absolute quantification from test samples, (5) analyze qPCR data, and (6) calculate the sample size to adequately power studies. The protocol presented here is suitable for high throughput use and can be modified to quantify mtDNA from other body fluids, human cells, and tissues., (© 2025. The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature.)
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- 2025
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21. Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene.
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Galota F, Di Rauso G, Sireci F, Castellucci A, Cavallieri F, Monfrini E, Fioravanti V, Campanini I, Merlo A, Napoli M, Cavazzuti L, Grisanti S, Ferrari S, Di Fonzo A, and Valzania F
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- Humans, Male, Young Adult, Mutation, Apraxias genetics, DNA Helicases genetics, Multifunctional Enzymes genetics, RNA Helicases genetics, Obsessive-Compulsive Disorder genetics, Obsessive-Compulsive Disorder complications, Obsessive-Compulsive Disorder physiopathology
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Background: Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder presenting with cerebellar ataxia, sensory-motor axonal neuropathy, oculomotor apraxia, cerebellar atrophy and high alpha-fetoprotein (AFP) serum level. AOA2 is due to coding mutations of the SETX gene, mapped to chromosome 9q34. Seldom noncoding mutations affecting RNA processing have been reported too. To date psychiatric symptoms have never been reported in AOA2., Case Presentation: A 19 years-old man came to our attention for progressive gait ataxia debuted five years earlier. His past medical history was unremarkable, while his parents were consanguineous. On neurological examination, he had bilateral horizontal gaze-evoked nystagmus with hypometric saccades and saccadic horizontal smooth pursuit, appendicular ataxia, limbs and trunk myoclonic involuntary movements with hands' dystonic postures and dance of the tendons. Psychological evaluation described intrusive and obsessive thoughts experienced by the patient, then diagnosed as obsessive-compulsive disorder. Blood tests detected an elevated AFP level. Brain MRI showed cerebellar atrophy, while electroneuromyography revealed an axonal sensory-motor polyneuropathy. In the suspicion of a pathology belonging to the autosomal recessive cerebellar ataxias (ARCA) spectrum disorder, a direct search of point mutations by whole-exome sequencing was performed revealing a novel biallelic variant in SETX gene (c.6208+2dupT), which was classified as likely pathogenic., Conclusion: The present case expands the genotypic and phenotypic spectrum of AOA2, reporting a novel likely pathogenic SETX mutation (c.6208+2dupT) and highlighting an early psychiatric involvement in AOA2, suggesting the need for psychiatric assessment in these neurologic patients., Competing Interests: Declaration. Ethical statement: All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Written informed consent has been obtained from the patient. We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this work is consistent with those guidelines, (© 2024. Fondazione Società Italiana di Neurologia.)
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- 2025
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22. The News That Mattered in 2024: Top Picks From the Neurology Today Editorial Board.
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- 2025
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23. "Delta Protocadherin Therapies" in Patent Application Approval Process (USPTO 20250002554).
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SPINAL cord diseases ,LENNOX-Gastaut syndrome ,CENTRAL nervous system diseases ,CENTRAL nervous system ,ALZHEIMER'S disease ,STREPTAVIDIN ,GLYCANS - Abstract
The patent application by inventor David Lin focuses on delta protocadherin therapies for spinal cord injuries and neurodegenerative disorders. The application discusses the use of delta protocadherin genes, gene products, and modifiers to stimulate axonal growth and correct connectivity during neuron regeneration. The compositions described in the patent aim to enhance nervous system repair and offer potential treatments for various conditions, including epilepsy, neurodegenerative diseases, and nerve injuries. [Extracted from the article]
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- 2025
24. Patent Issued for Materials and methods for treating Friedreich's Ataxia (USPTO 12180253).
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NEUROLOGICAL disorders ,CENTRAL nervous system diseases ,FRIEDREICH'S ataxia ,AMINO acid sequence ,SPINAL cord diseases - Abstract
A patent has been issued for materials and methods to treat Friedreich's Ataxia, a rare genetic disorder that causes progressive neurological and cardiac dysfunction. The patent describes a new fusion polypeptide that aims to overcome limitations of existing treatments by providing higher solubility and allowing for higher doses to be administered. This development addresses the urgent need for new therapies to treat Friedreich's Ataxia, which currently has no cure. [Extracted from the article]
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- 2025
25. In vivo CRISPR–Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington’s disease
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Mouro Pinto, Ricardo, Murtha, Ryan, Azevedo, António, Douglas, Cameron, Kovalenko, Marina, Ulloa, Jessica, Crescenti, Steven, Burch, Zoe, Oliver, Esaria, Kesavan, Maheswaran, Shibata, Shota, Vitalo, Antonia, Mota-Silva, Eduarda, Riggs, Marion J., Correia, Kevin, Elezi, Emanuela, Demelo, Brigitte, Carroll, Jeffrey B., Gillis, Tammy, Gusella, James F., MacDonald, Marcy E., and Wheeler, Vanessa C.
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- 2025
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26. Subtypes of cognitive impairment in cerebellar disease identified by cross-diagnostic cluster-analysis: results from a German multicenter study
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Liu, Qi, Rubarth, Kerstin, Faber, Jennifer, Sulzer, Patricia, Dogan, Imis, Barkhoff, Miriam, Minnerop, Martina, Berlijn, Adam M., Elben, Saskia, Jacobi, Heike, Aktories, Julia-Elisabeth, Huvermann, Dana M., Erdlenbruch, Friedrich, Van der Veen, Raquel, Müller, Johanna, Nio, Enzo, Frank, Benedikt, Köhrmann, Martin, Wondzinski, Elke, Siebler, Mario, Reetz, Kathrin, Konczak, Jürgen, Konietschke, Frank, Klockgether, Thomas, Synofzik, Matthis, Röske, Sandra, Timmann, Dagmar, and Thieme, Andreas
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- 2025
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27. How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case–control study
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Pinheiro-Barbosa, Raquel, Cissé, Cheick, Bastos, Paulo, Leung, Clémence, Traon, Anne Pavy-le, Kermorgant, Marc, Bonneville, Fabrice, Renaud, Mathilde, Bonnet, Cecile, Wandzel, Marion, Roth, Virginie, Rascol, Olivier, Ory-Magne, Fabienne, and Fabbri, Margherita
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- 2025
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28. Possible mechanisms connecting cerebellar ataxias and bilateral vestibular weakness: diagnostic and therapeutic implications
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Cherchi, Marcello
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- 2025
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29. No evidence for association between GAA-FGF14 expansion and early onset cerebellar ataxia: a study on 85 undiagnosed patients
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Delvallee, Clarisse, Calmels, Nadège, Bogdan, Thomas, Tranchant, Christine, Anheim, Mathieu, and Wirth, Thomas
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- 2025
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30. Welcome to 2025 from EJHG
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McNeill, Alisdair
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- 2025
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31. 8-K: Lexeo Therapeutics, Inc
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United States. Securities and Exchange Commission ,Business, general - Abstract
(EDGAR Online via COMTEX) -- false000190710800019071082025-01-132025-01-13 UNITED STATES SECURITIES AND EXCHANGE COMMISSION WASHINGTON, D.C. 20549 FORM 8-K CURRENT REPORT Pursuant to Section 13 or 15(d) of the Securities Exchange Act [...]
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- 2025
32. 8-K: Camp4 Therapeutics Corp
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Business, general - Abstract
(EDGAR Online via COMTEX) -- false 0001736730 0001736730 2025-01-07 2025-01-07 iso4217:USD xbrli:shares iso4217:USD xbrli:shares UNITED STATES SECURITIES AND EXCHANGE COMMISSION Washington, D.C. 20549 FORM 8-K CURRENT REPORT Pursuant to Section [...]
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- 2025
33. 'Delta Protocadherin Therapies' in Patent Application Approval Process (USPTO 20250002554)
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Neurons ,Nervous system diseases ,Anopheles ,Health - Abstract
2025 JAN 23 (NewsRx) -- By a News Reporter-Staff News Editor at Gene Therapy Weekly -- A patent application by the inventor Lin, David (Ithaca, NY, US), filed on November [...]
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- 2025
34. Patent Issued for Materials and methods for treating Friedreich's Ataxia (USPTO 12180253)
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Ataxia -- Methods -- Reports ,Amino acids -- Intellectual property -- Methods -- Reports ,Health - Abstract
2025 JAN 20 (NewsRx) -- By a News Reporter-Staff News Editor at Diabetes Week -- From Alexandria, Virginia, NewsRx journalists report that a patent by the inventors Payne, Ronald Mark [...]
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- 2025
35. Drugs in Neurology 2E
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Sathiji Nageshwaran, David Ledingham, Heather Wilson, Sathiji Nageshwaran, David Ledingham, and Heather Wilson
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Part of the Drugs in series, this easily accessible pocket-sized guide covers the optimal use of medications when treating patients with neurological ailments. This second edition of Drugs in Neurology outlines the indications, contra-indications, side-effects, and important interactions of each drug. Since the publication of the first Drugs in Neurology, a revolution in the neurological sciences has been underway with numerous previously untreatable conditions, receiving disease modifying research. This edition has been updated in its entirety to mirror the significant progress made in each field of neurology, including new drug profiles on emerging/recently licensed agents and a new chapter covering Neurogenetics. Practical aspects related to prescribing and therapeutic drug monitoring are explored and based on the most up-to-date evidence-based guidance. This practical handbook is relevant to neurology and neurosurgery registrars in training, consultants, general practitioners, general physicians, junior doctors, specialist nurses, pharmacists, and medical students.
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- 2025
36. Herbal Medicine for Rare Diseases : Alleviating Symptoms by GMP Herbal Formulations
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Sun-Chong Wang, Meng-hua Chen, Sun-Chong Wang, and Meng-hua Chen
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Many rare diseases are genetic and lack effective cures. Herbal medicine, developed by ancient healers without the benefit of modern cell biology knowledge, focuses on alleviating symptoms associated with uncommon conditions. Herbal Medicine for Rare Diseases: Alleviating Symptoms by GMP Herbal Formulations adopts an herbal medicine approach to addressing signs and symptoms of rare diseases.Each herb possesses a multitude of compounds that allow it to treat various conditions, while a single condition can often be addressed by several different herbs, illustrating complex relationships that artificial intelligence (AI) excels at deciphering. The herbal prescriptions in this book are generated using AI models, trained on a decade's worth of medical insurance data from Taiwan, featuring the use of Good Manufacturing Practice (GMP)-certified traditional Chinese medicine (TCM) products. The connection between deep learning and big data ensures that the trained AI model represents the collective wisdom of ~5,000 herbal medical doctors in Taiwan who contributed to the training data.Features Prescribes granulated herbal products sourced from GMP-certified manufacturers to ensure quality and safety Provides precise dosage information for the GMP herbal products in every prescription Includes a wealth of common and alternative herbal prescriptions tailored for specific conditions or combinations thereof Cites evidence from preclinical and clinical studies of the herb and formula to offer insights into their efficacy and mechanisms In each section Herbal Medicine for Rare Diseases: Alleviating Symptoms by GMP Herbal Formulations, AI-generated prescriptions are meticulously annotated with evidence from modern pharmacological and phytochemical studies of the herbs and multi-herb formulas included in the prescriptions. This book is beneficial for health professionals and practitioners, particularly those who specialise in complementary, alternative, and herbal medicine.
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- 2025
37. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics : Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders
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Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody, Reed E. Pyeritz, Bruce R. Korf, and Wayne W. Grody
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- Skin--Diseases--Genetic aspects, Connective tissues--Diseases--Genetic aspects, Skeleton--Diseases--Genetic aspects, Medical genetics, Eye--Diseases--Genetic aspects, Head--Diseases--Genetic aspects
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For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the seventh edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, and genetic counseling. Volumes 3–11 cover diagnosis, management, and treatment of both rare and common disorders in all organ systems. Students, medical providers, and researchers all benefit from the latest information about the role of the genome in health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals across the full spectrum of applications to medicine. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to endocrine, skin, connective tissue and skeletal disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods that make use of current genomic technologies and translational studies. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, seventh edition, bridges the gap between high-level molecular genetics and genomics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. - Thoroughly introduces genetic researchers, students, and healthcare professionals to the genetic and genomic bases of endocrinologic, dermatologic, connective tissue, and skeletal disorders - Includes color images supporting identification, concept illustration, and method processing - Features contributions by leading international researchers and specialist medical practitioners
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- 2025
38. Autoimmune Disease Diagnosis : Systemic and Organ-specific Diseases
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Yehuda Shoenfeld, Ricard Cervera, Gerard Espinosa, M. Eric Gershwin, Yehuda Shoenfeld, Ricard Cervera, Gerard Espinosa, and M. Eric Gershwin
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- Rheumatology, Immunology, Internal medicine
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This book contains the essential information required by physicians and bench scientists to understand the definition of a given autoimmune disease and its diagnostic criteria and treatment. Autoimmune diseases are a family of more than one hundred chronic, and often disabling, illnesses that develop when underlying defects in the immune system lead the body to attack its own organs, tissues, and cells. In Autoimmune Disease Diagnosis: Systemic and Organ-specific Diseases, the editors have gathered a critical review by renowned experts of more than 120 autoimmune diseases. A contemporary overview of these conditions with special emphasis on diagnosis is presented. This edition of Autoimmune Disease Diagnosis is divided into two parts, the first covering systemic autoimmune diseases, and the second covering organ-specific autoimmune diseases. They cover all the newly approved classification criteria, such as those for systemic lupus erythematosus, antiphospholipid syndrome, several systemic vasculitis, etc. This edition also reviews newly described systemic autoimmune conditions: immune-mediated necrotizing myopathy, VEXAS, immunoglobulin G4-associated autoimmune disease, autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA), and autoimmune manifestations induced by immune-therapies. Several organ-specific diseases have been added, including autoimmune alopecia and other immune-mediated dermatosis, autoimmune encephalitis, and autoimmune dysautonomia, among others. This is an essential guide to the diagnosis of autoimmune diseases for internists, rheumatologists, clinical immunologists, primary care physicians, and bench scientists.
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- 2025
39. Greenfield's Neuropathology 10e Set
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Colin Smith, Arie Perry, Gabor Kovacs, Thomas Jacques, Colin Smith, Arie Perry, Gabor Kovacs, and Thomas Jacques
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- Nervous system--Diseases
- Abstract
Greenfield's is the world's leading neuropathology reference. It provides a comprehensive account of the pathological findings in neurological disease, their biological basis, and their clinical manifestations. The two volume work provides a remarkable text which is clear, comprehensive and precise with exceptional illustrations. The tenth edition features fully updated sections covering CNS tumours, neurodegeneration, skeletal muscle, epilepsy, paediatric and forensic neuropathology.Expert coverage from an international team of Editors and contributors ensures authoritative and up to date content. The two volume set includes a downloadable and easily used e-version. This is a tried and tested reference for scientists, clinicians, researchers, and students who wish to learn more about neurological disease.
- Published
- 2025
40. The Neuroscience of Everyday Life : An Applied Guide for Health Sciences Students
- Author
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Winnie Dunn, Timothy J. Wolf, Lorie Gage Richards, Dawn M. Nilsen, Winnie Dunn, Timothy J. Wolf, Lorie Gage Richards, and Dawn M. Nilsen
- Subjects
- Neurosciences
- Abstract
By weaving vignettes and case studies throughout, this fascinating and original textbook provides an accessible primer not only on the key principles of neuroscience but, crucially, how they may manifest in the everyday lives of people with neurological conditions.Each chapter begins with the story of a person or family, including a description of what they want to do in their everyday life, before presenting the neuroscientific principles that underlie this person's situation. Rather than a technical book about neuroanatomy, physiology, or pathology, the spotlight is on understanding the way that neurological differences impact a person's life. Through focusing on a particular condition, each chapter highlights a different aspect of the nervous system, and what happens when things change. A wide range of topics are covered, from conditions such as Parkinson's, dementia, MS, and autism, to conditions resulting from traumatic events such as spinal cord injuries, stroke, and chronic pain. The goal of the book is to trace a thread from neuroscience to how the nervous system affects active participation in daily activities. This approach gives students and professionals a thorough and informed grounding to support problem-solving in practice, improving evidence-based assessment, interventions, and outcomes.Following current evidence-based teaching practices, this text emphasizes engaged teaching/learning methods throughout each chapter to encourage students'own active discovery. This ground-breaking text will be essential reading for any health science students as well as professionals in practice.
- Published
- 2025
41. Motor Speech Disorders: Diagnosis and Treatment, Fourth Edition
- Author
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Donald B. Freed and Donald B. Freed
- Subjects
- Articulation disorders--Diagnosis, Articulation disorders--Treatment
- Abstract
Motor Speech Disorders: Diagnosis and Treatment, Fourth Edition offers a detailed yet streamlined introduction to motor speech disorders for graduate speech-language pathology students and beginning clinicians. The text begins with a brief historical overview of motor speech disorders, providing useful context for understanding the technology and methodology used by today's speech-language pathologists for assessment and treatment. The book also provides a practical introduction to the human motor system with 45 full-color anatomical illustrations enabling readers to more easily understand the challenging material. A full chapter is dedicated to the assessment of the disorders and includes a detailed explanation of the complete motor speech examination.
- Published
- 2025
42. Acquired Neurogenic Communication Disorders: An Integrated Clinical Approach
- Author
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Jerry K. Hoepner, Margaret Lehman Blake, Jerry K. Hoepner, and Margaret Lehman Blake
- Subjects
- Nervous system, Communicative disorders
- Abstract
Acquired Neurogenic Communication Disorders: An Integrated Clinical Approach provides an overview of acquired neurogenic communication and swallowing disorders for undergraduate courses in communication sciences and disorders programs. Compared to other books on this subject, this text is organized by anatomical systems and locations, not by disorder. The authors aim to teach students about the cognitive, speech, language, and swallowing disorders that occur with damage to neurological systems in a manner that breaks down silos that artificially separate disorders that routinely co-occur. This approach reflects the reality that most individuals with acquired brain injuries have multiple cognitive, communication, and swallowing disorders.
- Published
- 2025
43. Advanced Pediatric Assessment
- Author
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Ellen M. Chiocca, PhD, APRN, CPNP-PC and Ellen M. Chiocca, PhD, APRN, CPNP-PC
- Subjects
- Age factors in disease, Infants, Children
- Abstract
Third Edition AJN Book-of-the-Year Award Winner: Child Health! This acclaimed text delivers the specialized knowledge and skills required for in-depth physical and psychosocial assessment and treatment of children from birth through adolescence. Comprehensive and detailed, it emphasizes the unique anatomic and physiologic differences between infants, children, and adults and underscores the need for a distinct approach to the pediatric population. The fourth edition is updated with a unique chapter on diagnostic reasoning along with new content on this topic throughout. Also included is a new section on the pediatric telehealth visit and discussion of the clinical impact of the pandemic on the physical and psychological assessment of pediatric patients. New case studies and critical thinking exercises for each chapter illuminate content along with abundant four-color photograph and images. The text is written with a level of depth that makes it ideal both as a text for advanced practice nursing students and as a reference for practicing pediatric healthcare providers. It encompasses the physical, psychosocial, developmental, and cultural aspects of child assessment. Detailed tables list normal growth and developmental milestones as well as developmental red flags and developmental screening tools. New to the Fourth Edition: A fully revised chapter on mental health assessment of children A new section on providing Trauma Informed Care to children A revised chapter on diagnostic reasoning and clinical decision making along with new diagnostic reasoning content throughout Content on the pediatric telehealth visit Focus on the clinical impact of the pandemic on the physical and psychosocial assessment of pediatric patients Key Features: Organized by body system to aid in speedy information retrieval Examines the unique anatomic and physiologic differences among infants, children, and adults Addresses family, developmental, nutritional, and child mistreatment assessment Describes in detail helpful communication techniques when working with children of different developmental levels Incorporates current screening and health promotion guidelines Offers a specific chapter on the diagnostic process and formulating pediatric differential diagnoses
- Published
- 2025
44. Fenichel's Clinical Pediatric Neurology E-Book
- Author
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J. Eric Piña-Garza, Kaitlin C. James, J. Eric Piña-Garza, and Kaitlin C. James
- Subjects
- Infants, Children, Pediatric neurology, Pediatric neurology--Diagnosis
- Abstract
Using a practical, easy-to-reference signs and symptoms approach, Fenichel's Clinical Pediatric Neurology, 9th Edition, provides a solid foundation in the diagnosis and management of primary neurologic disorders of childhood while bringing you fully up to date with developments in the field. It offers step-by-step, authoritative guidance that considers each presenting symptom in terms of differential diagnosis and treatment, reflecting real-life patient evaluation and management. Perfect for board exam preparation, office use, or residency reference, this well-organized, revised edition is an ideal introduction to this complex and fast-changing field. - Defines age at onset, course of illness, clinical features, and treatment options for each neurological disease, all logically organized by neurological signs and symptoms in a highly templated format. - Brings you up to date with every aspect of the field, with integrated content on new medications, new topics such as neurological complications of COVID in children, and a new chapter on behavioral neurology. - Includes comprehensive coverage of genetics in relation to epilepsy, autism, and many neurometabolic disorders, with up-to-date coverage of genetic testing, diagnosis, and pharmacogenomics. - Features weighted differential diagnosis tables and treatment algorithms that help you quickly identify the more common and most treatable neurological disorders, as well as evaluate and manage the most difficult neurodegenerative disorders, including those caused by inborn errors of metabolism. - Provides helpful boxes that synthesize symptoms and foundational points, an increased number of imaging examples throughout, and more than 300 illustrations, tables, and charts that support and clarify the text. - Shares the knowledge and experience of clinical neurologist and epileptologist, Dr. Kaitlin C. James, and Dr. J. Eric Piña-Garza, a longtime associate and protégé of Dr. Gerald Fenichel.
- Published
- 2025
45. Pediatric Board Study Guide : A Last Minute Review
- Author
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Osama Naga and Osama Naga
- Subjects
- Pediatrics, Family medicine, Internal medicine
- Abstract
The second edition of this text has proved to be a very successful pediatric study guide, helping many pediatricians around the world to study pediatrics in a very easy, simplified way. Even the most complex subjects are condensed into very straight forward and easy to remember information blocks. This book not only prepares students to pass their exams but also prepares pediatricians for general pediatric encounters, emphasizing all new updates from the American Academy of Pediatrics and American Board of Pediatrics. It has proved very popular among new pediatricians and new pediatric residents worldwide. In the last 3 years, the AAP and ABP have released a lot of updates, such as, management of fever in well-appearing infants, COVID-19, asthma management, and new vaccine guidelines from the CDC. The pediatric board exam always includes new diseases, which are included in each chapter, as well as new questions and answers that must be added to the last-minute review chapter, as well as other questions to be edited to follow the new recommendations and guidelines in pediatrics. New pictures and better quality illustrations are also included. Pediatric residents and fellows preparing for the board examination, pediatricians, and pediatric subspecialists preparing for certification maintenance will find Pediatric Board Study Guide: A Last-Minute Review, 3rd edition, easy to use and comprehensive, making it the ideal resource and study tool.
- Published
- 2025
46. Occupational Hearing Loss, Fourth Edition
- Author
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Robert Thayer Sataloff, Pamela C. Roehm, Robert Thayer Sataloff, and Pamela C. Roehm
- Subjects
- Hearing disorders, Occupational diseases, Deafness, Noise induced
- Abstract
Now in its fourth edition, Occupational Hearing Loss delivers a complete overview of the hazards of occupational noise exposure, causes of hearing loss, testing of hearing, criteria to distinguish occupational hearing loss, and more. The book emphasizes medical and societal factors in its coverage of topics such as audiometry and who should do it, evoked response testing, and conductive and sensorineural hearing loss, as well as mixed, central, and functional hearing loss.Brought together by experienced practitioners and written by experts with depth and experience in the field, this book is written clearly in language accessible to non-medical personnel. No other book available has the breadth, practical detail, or comprehensive scope. A unique compendium of information about specific problems of occupational hearing loss and hearing conservation, the book is both a balanced reference and an easy-to-use guide to protecting the hearing of industrial workers.This title is an ideal read for any student or professional occupational physician, audiologist, health and safety engineer, industrial hygienist, and otolaryngologist.
- Published
- 2025
47. Handbook of Nutritional Disorders
- Author
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Jahangir Moini, Katia Ferdowsi, Jahangir Moini, and Katia Ferdowsi
- Subjects
- Nutrition disorders
- Abstract
Handbook of Nutritional Disorders is a comprehensive handbook covering topics in nutrition, malnutrition, and the clinical disorders associated with nutrition from deficiency to toxicity. It includes information on disorders related to carbohydrate, lipid, and protein metabolism as well as vitamin and mineral abnormalities. The book details various types of supplements, feeding methods, and therapies for many specific patients. It aims to educate readers on ways to prevent disorders resulting from all types of malnutrition and their potentially severe complications.Features Strong focus on diabetes featuring information on various forms of the disease and treatment information Detailed discussion of lipids and related disorders – cardiovascular disease is the number one cause of death, informs users on prevention and treatment of hypertension, myocardial infarction, and stroke Contains information on selective nutritional disorders including obesity, dehydration, imbalances, malabsorption, alcoholism, neuropsychiatric disorders, eating disorders, cancer, and pollutant poisonings Written for researchers, academia, and students in healthcare and nutrition fields, this book educates individuals on prevention of disorders resulting from all types of malnutrition and their potentially severe complications.
- Published
- 2025
48. Genetics: A Modern Approach
- Author
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Suraksha Agrawal, Sarabjeet Mastana, Suraksha Agrawal, and Sarabjeet Mastana
- Abstract
Various topics covered in this book are: Mendelian Genetics, Non-Mendelian Genetics, Genetics counseling, Cancer Genetics, Problem Solving in Genetics, Legal and Ethical Issues in Human Genetics. Provides the basic knowledge about human genetics and application of genetic principles in the practice of medicine. Important concepts of genetics with experimental details have been also incorporated. Provides diagrams, microphotographs, tables and laboratory features for easy understanding and better retention. At the end of the book an extensive glossary and question answers have been provided which will help the students to prepare them for their exams. This book will be greater use to understand the science of inheritance and its implications in the field of molecular biology and human genetics.
- Published
- 2025
49. Handbook of Neural Engineering : A Modern Approach
- Author
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Stephanie Willerth and Stephanie Willerth
- Subjects
- Biomedical engineering, Computational neuroscience, Neural networks (Neurobiology), Nervous system--Computer simulation, Neural networks (Computer science)
- Abstract
Handbook of Neural Engineering: A Modern Approach provides a comprehensive overview of the field from biology to recent technological advances through an interdisciplinary lens. The book is divided into three sections: 1) Biological Considerations for Neural Engineering, 2) Neural Engineering Strategies, and 3) Emerging Technologies for Neural Engineering. It provides the first comprehensive text that addresses this combination of subjects. Neurodegenerative diseases, including Alzheimer's, Parkinson's and Multiple Sclerosis, represent an enormous healthcare burden, and many of these diseases lack true cures, making it imperative to study the biological systems that become disordered to understand potential treatment options. This book covers the basic neurobiology and physiology, common neural engineering strategies, and emerging technologies in this field. It is designed to support an upper year/graduate elective course in neural engineering, and will provide a foundational overview of the field for interdisciplinary researchers, clinicians, engineers, and industry professionals. The handbook provides readers with a strong base in both biological and engineering principles along with the concepts necessary to implement solutions using Neural Engineering. - Includes coverage of foundational concepts of the fast-moving field of Neural Engineering, from overview and structure of the nervous system, cellular biology of the nervous system, extracellular matrix of the nervous system, role of the immune system in the nervous system, disease states of the nervous system, and the effects of trauma and chronic pain on the nervous system - Provides readers with understanding of Neural Engineering strategies, in key areas such as imagining, examining nervous system function, neural interfaces, Brain-Computer Interfaces, neural prostheses, neurorobotics, and neural tissue engineering - Includes a complete section on emerging technologies for neural engineering applications, such as optogenetics, gene editing, brain organoids, and modeling with organ-on-a-chip systems
- Published
- 2025
50. Synopsis of Foot and Ankle Surgery
- Author
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Simon Lee, Christopher Gross, Simon Lee, and Christopher Gross
- Subjects
- Handbook, Foot--surgery, Ankle--surgery, Orthopedic Procedures--methods
- Abstract
An expert, concise guide on the pathophysiology and treatment of foot and ankle disordersFoot and ankle problems can be quite complex and constitute a large percentage of orthopaedic conditions, including congenital and acquired deformities, arthritis, tumors, heel pain, nerve damage, trauma, and more. Synopsis of Foot and Ankle Surgery, edited by renowned foot and ankle surgeons and educators Simon Lee and Christopher E. Gross, is an easy-to-read resource covering a wide range of foot and ankle fundamentals. The book fills a gap in the literature, and in particular orthopaedic resources, by providing a reader-friendly handbook for medical students and junior residents who need quick and reliable clinical information at their fingertips.This textbook serves as a primer for beginners as well as a resource for more established clinicians to expand current understanding and knowledge of foot and ankle pathologies and techniques. The opening five chapters lay an essential groundwork, covering anatomy, an overview of surgical approaches, biomechanics, imaging basics, and medical history and physical examination. Common and less prevalent conditions are addressed in the 18 subsequent chapters, while the final two chapters discuss orthotics and prosthetics and orthobiologics, respectively.Key FeaturesContributions from world-renowned experts in their respective fieldsA succinct resource detailing the clinical intricacies and challenges inherent to foot and ankle surgeryPearls and concepts to enhance learning, knowledge, clinical rotations, and careersHigh-quality illustrations and surgical photographs enrich understanding of underlying anatomy and techniquesThis indispensable resource will help medical students, orthopaedic and podiatric residents, nurses, and physician assistants to expand knowledge on foot and ankle anatomy and improve management of a comprehensive range of conditions.
- Published
- 2025
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