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  1. Article ; Online: Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.

    Thakkar, Rajvi N / Patel, Drashti / Kioutchoukova, Ivelina P / Al-Bahou, Raja / Reddy, Pranith / Foster, Devon T / Lucke-Wold, Brandon

    Medical sciences (Basel, Switzerland)

    2024  Volume 12, Issue 1

    Abstract: Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis. These ... ...

    Abstract Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis. These diseases are characterized as cerebral lesions with characteristic demyelinating patterns which can be used as differentiating tools. In this review, we talk about these MRI study findings for each leukodystrophy, associated genetics, blood work that can help in differentiation, emerging diagnostics, and a follow-up imaging strategy. The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe's disease, Pelizaeus-Merzbacher disease, Alexander's disease, Canavan disease, and Aicardi-Goutières Syndrome.
    MeSH term(s) Humans ; Leukodystrophy, Metachromatic/diagnostic imaging ; Leukodystrophy, Metachromatic/pathology ; Leukodystrophy, Globoid Cell/diagnostic imaging ; Leukodystrophy, Globoid Cell/pathology ; Adrenoleukodystrophy/diagnostic imaging ; Adrenoleukodystrophy/genetics ; Neurodegenerative Diseases ; Pelizaeus-Merzbacher Disease
    Language English
    Publishing date 2024-01-25
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2754473-4
    ISSN 2076-3271 ; 2076-3271
    ISSN (online) 2076-3271
    ISSN 2076-3271
    DOI 10.3390/medsci12010007
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Neurologic orphan diseases: Emerging innovations and role for genetic treatments.

    Kioutchoukova, Ivelina P / Foster, Devon T / Thakkar, Rajvi N / Foreman, Marco A / Burgess, Brandon J / Toms, Rebecca M / Molina Valero, Eduardo E / Lucke-Wold, Brandon

    World journal of experimental medicine

    2023  Volume 13, Issue 4, Page(s) 59–74

    Abstract: Orphan diseases are rare diseases that affect less than 200000 individuals within the United States. Most orphan diseases are of neurologic and genetic origin. With the current advances in technology, more funding has been devoted to developing ... ...

    Abstract Orphan diseases are rare diseases that affect less than 200000 individuals within the United States. Most orphan diseases are of neurologic and genetic origin. With the current advances in technology, more funding has been devoted to developing therapeutic agents for patients with these conditions. In our review, we highlight emerging options for patients with neurologic orphan diseases, specifically including diseases resulting in muscular deterioration, epilepsy, seizures, neurodegenerative movement disorders, inhibited cognitive development, neuron deterioration, and tumors. After extensive literature review, gene therapy offers a promising route for the treatment of neurologic orphan diseases. The use of clustered regularly interspaced palindromic repeats/Cas9 has demonstrated positive results in experiments investigating its role in several diseases. Additionally, the use of adeno-associated viral vectors has shown improvement in survival, motor function, and developmental milestones, while also demonstrating reversal of sensory ataxia and cardiomyopathy in Friedreich ataxia patients. Antisense oligonucleotides have also been used in some neurologic orphan diseases with positive outcomes. Mammalian target of rapamycin inhibitors are currently being investigated and have reduced abnormal cell growth, proliferation, and angiogenesis. Emerging innovations and the role of genetic treatments open a new window of opportunity for the treatment of neurologic orphan diseases.
    Language English
    Publishing date 2023-09-20
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2764849-7
    ISSN 2220-315X
    ISSN 2220-315X
    DOI 10.5493/wjem.v13.i4.59
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Provision of Care by "Real World" Telemental Health Providers.

    Bunnell, Brian E / Kazantzis, Nikolaos / Paige, Samantha R / Barrera, Janelle / Thakkar, Rajvi N / Turner, Dylan / Welch, Brandon M

    Frontiers in psychology

    2021  Volume 12, Page(s) 653652

    Abstract: Despite its effectiveness, limited research has examined the provision of telemental health (TMH) and how practices may vary according to treatment paradigm. We surveyed 276 community mental health providers registered with a commercial telemedicine ... ...

    Abstract Despite its effectiveness, limited research has examined the provision of telemental health (TMH) and how practices may vary according to treatment paradigm. We surveyed 276 community mental health providers registered with a commercial telemedicine platform. Most providers reported primarily offering TMH services to adults with anxiety, depression, and trauma-and stressor-related disorders in individual therapy formats. Approximately 82% of TMH providers reported endorsing the use of Cognitive Behavioral Therapy (CBT) in their remote practice. The most commonly used in-session and between-session (i.e., homework) exercises included coping and emotion regulation, problem solving, mindfulness, interpersonal skills, relaxation, and modifying and addressing core beliefs. CBT TMH providers had a higher odds of using in-session and homework exercises and assigning them through postal mail, email or fax methods, as compared to non-CBT TMH providers. TMH providers, regardless of treatment paradigm, felt that assigning homework was neither easy nor difficult and they believed their patients were somewhat-to-moderately compliant to their assigned exercises. CBT TMH providers also collected clinical information from their patients more often than non-CBT TMH providers. They reported being less satisfied with their method, which was identified most often as paper-based surveys and forms. Overall, TMH providers employ evidence-based treatments to their patients remotely, with CBT TMH providers most likely to do so. Findings highlight the need for innovative solutions to improve how TMH providers that endorse following the CBT treatment paradigm remotely assign homework and collect clinical data to increase their satisfaction via telemedicine.
    Language English
    Publishing date 2021-05-07
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2563826-9
    ISSN 1664-1078
    ISSN 1664-1078
    DOI 10.3389/fpsyg.2021.653652
    Database MEDical Literature Analysis and Retrieval System OnLINE

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