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Saturday, 12 April 2025

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Editor

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Assuming icas is required, the following 236 results were found.

  1. Congenital Myopathieshttps://cnke.org/articles/218

    Introduction Congenital Myopathies: Group of inherited muscle disorders presenting with: Hypotonia and weakness from birth. Characteristic histological and/or electron microscopic changes in muscle tissue. Clinical severity: Wide variation within and...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  2. Infantile Spasms: Treatmenthttps://cnke.org/articles/256

    Treatment Goals Short-Term Goals: Eradication of Epileptic Spasms. Resolution/prevention of hypsarrhythmia. Early achievement of these goals predicts better long-term outcomes. Long-Term Goals: Enduring seizure freedom. Prevention of evolution to other...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  3. Multiminicore Diseasehttps://cnke.org/articles/multiminicore-disease

    Overview Multiminicore Disease (MmD): A clinically and genetically heterogeneous congenital myopathy characterized by multiple small cores in muscle fibers on biopsy. Main Forms: Rigid Spine Muscular Dystrophy Type 1 (RSMD1): Caused by recessive SEPN1...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  4. Incontinentia Pigmentihttps://cnke.org/articles/475

    Introduction Definition: Rare X-linked genetic disorder affecting the skin, hair, teeth, nails, eyes, and CNS. Prevalence: Reported prevalence: ~1.2/100,000 in Europe. Female:Male ratio: 20:1. High penetrance with variable expressivity. Demographics:...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  5. Congenital Muscular Dystrophyhttps://cnke.org/articles/224

    Congenital Muscular Dystrophy refers to a group of neuromuscular disorders manifesting as hypotonia and muscle weakness within the first 2 years of life, often from birth. Definition and Presentation CMD refers to a group of neuromuscular disorders...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  6. Self Injurious Behaviour (SIB) https://cnke.org/articles/32

    Self Injurious Behaviour (SIB) SIB refers to a class of behaviors which the individual inflicts upon his/herself that have the potential to result in physical injury, more specifically tissue damage. SIB may manifest in numerous ways, including but not...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  7. Transcranial Magnetic Stimulation (TMS) in Autism Spectrum Disordershttps://cnke.org/articles/182

    TMS presents a promising, non-invasive intervention for modulating neurophysiological abnormalities associated with ASD. Autism Spectrum Disorder (ASD) ASD is a neurodevelopmental disorder characterized by: Difficulties in social communication and...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  8. Nesprinopathieshttps://cnke.org/articles/318

    Definition and Cause Nuclear envelopathies are diseases resulting from mutations in genes encoding parts of the inner nuclear membrane, nuclear lamina, and outer nuclear membrane. Key components include Emerin, MAN1, LAP2, LBR, Lamins A and C, Lamins...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  9. The Diagnosis of Rett Syndromehttps://cnke.org/articles/154

    The Diagnosis of Rett Syndrome (RTT) Introduction Definition: Rett Syndrome (RTT) is a rare neurodevelopmental disorder, primarily affecting females, characterized by developmental regression, loss of acquired skills, and stereotypic hand movements....

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  10. Bromideshttps://cnke.org/articles/bromides

    Introduction Nature and Origin: Bromide is an inorganic ion similar to chloride. Naturally present in the environment, especially in seawater (approximately 65 mg/L). Found in significant amounts in human blood due to seafood consumption. Historical...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  11. Acquired Dysarthriahttps://cnke.org/articles/247

    Dysarthria is a speech articulation impairment affecting intelligibility, particularly through consonant production. It can also disrupt phonation, resonation, and prosody, leading to slurred, effortful speech. Dysarthria is often associated with...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  12. Lisdexamfetamine Dimesylatehttps://cnke.org/articles/148

    Lisdexamfetamine Dimesylate Brand Names: Vyvanse, Elvanse. Drug Class: Prodrug stimulant. Mechanism of Action: Lisdexamfetamine is a prodrug of d-amphetamine. Activated enzymatically in the bloodstream to d-amphetamine. Increases availability of...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  13. Glycosylphosphatidylinositol (GPI) Anchor and Glycosphingolipid (GSL) Related Disordershttps://cnke.org/articles/476

    Introduction to Glycosylation Disorders Glycosylation is a critical post-translational modification affecting protein stability, localization, and function. Disorders of glycosylation have been increasingly recognized with advancements in...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  14. Wilder Graves Penfieldhttps://cnke.org/articles/296

    Wilder Graves Penfield (January 26, 1891 – April 5, 1976) was a pioneering Canadian neurosurgeon known for his groundbreaking work in brain surgery and for developing the "Montreal Procedure," which is used to treat severe epilepsy. His work...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  15. The First Hemispherectomyhttps://cnke.org/historical-vignettes/142

    The first hemispherectomy for epilepsy, performed by Dr. Kenneth G. McKenzie in 1938, marked a groundbreaking moment in neurosurgery and epilepsy treatment. A Canadian neurosurgeon based at Toronto General Hospital, Dr. McKenzie is celebrated for his...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes

  16. Childhood Apraxia of Speech (CAS) or Verbal Dyspraxiahttps://cnke.org/articles/244

    Childhood Apraxia of Speech is a complex, multifactorial speech motor programming disorder. Its diagnosis and management require a multidisciplinary approach that integrates speech therapy, cognitive support, and, where appropriate, genetic evaluation....

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  17. Neuroleptic Malignant Syndrome (NMS)https://cnke.org/articles/239

    Neuroleptic Malignant Syndrome (NMS) Definition: Neuroleptic Malignant Syndrome (NMS) is a rare, potentially life-threatening condition associated with the use of antipsychotic medications. It shares clinical features with Malignant Hyperthermia (MH)...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  18. Trofinetidehttps://cnke.org/articles/161

    Trofinetide is a synthetic analogue of glycine-proline-glutamate (GPE), an amino-terminal tripeptide derived from insulin-like growth factor-1 (IGF-1). It is emerging as a promising therapeutic agent for neurodevelopmental and neurodegenerative...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  19. Fetal Neurologyhttps://cnke.org/articles/355

    Fetal neurology is a specialized branch of medicine that focuses on the study, diagnosis, and management of neurological conditions affecting the developing fetus. This field encompasses the understanding of normal fetal brain development, the...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  20. Idiopathic Intracranial Hypertensionhttps://cnke.org/articles/178

    Overview Definition: Elevation of intracranial pressure (ICP) without an identifiable cause. Demographics: Primarily affects obese young women of childbearing age. Prevalence: Ranges from 0.5–2 per 100,000, increasing with the global rise in obesity....

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 41 - 60 of 236