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  1. Article ; Online: "Floppy brain" in congenital hydrocephalus.

    Duy, Phan Q / Kahle, Kristopher T

    Cerebral cortex (New York, N.Y. : 1991)

    2023  Volume 33, Issue 15, Page(s) 9339–9342

    Abstract: Hydrocephalus is classically considered to be a disorder of altered cerebrospinal fluid (CSF) circulation, leading to the dilation of cerebral ventricles. Here, we report a clinical case of a patient who presented with fetal-onset hydrocephalus with ... ...

    Abstract Hydrocephalus is classically considered to be a disorder of altered cerebrospinal fluid (CSF) circulation, leading to the dilation of cerebral ventricles. Here, we report a clinical case of a patient who presented with fetal-onset hydrocephalus with diffusely reduced cortical and white matter volumes resulting from a genetic mutation in L1CAM, a well-known hydrocephalus disease gene involved in neuronal cell adhesion and axon development. After CSF was drained from the ventricle intraoperatively, the patient's cortical mantle collapsed and exhibited a "floppy" appearance on neuroimaging, suggesting an inability of the hydrocephalic brain to maintain its structural integrity. The case provides clinical support for altered brain biomechanical properties in human hydrocephalus and adds to the emerging hypothesis that altered brain development with secondary impact on brain structural stability may contribute to ventricular enlargement in some subsets of hydrocephalus.
    MeSH term(s) Humans ; Brain ; Hydrocephalus/diagnostic imaging ; Hydrocephalus/metabolism ; Cerebral Ventricles ; White Matter ; Mutation
    Language English
    Publishing date 2023-06-06
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 1077450-6
    ISSN 1460-2199 ; 1047-3211
    ISSN (online) 1460-2199
    ISSN 1047-3211
    DOI 10.1093/cercor/bhad206
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  2. Article ; Online: The "microcephalic hydrocephalus" paradox as a paradigm of altered neural stem cell biology.

    Duy, Phan Q / Mehta, Neel H / Kahle, Kristopher T

    Cerebral cortex (New York, N.Y. : 1991)

    2024  Volume 34, Issue 1

    Abstract: Characterized by enlarged brain ventricles, hydrocephalus is a common neurological disorder classically attributed to a primary defect in cerebrospinal fluid (CSF) homeostasis. Microcephaly ("small head") and hydrocephalus are typically viewed as two ... ...

    Abstract Characterized by enlarged brain ventricles, hydrocephalus is a common neurological disorder classically attributed to a primary defect in cerebrospinal fluid (CSF) homeostasis. Microcephaly ("small head") and hydrocephalus are typically viewed as two mutually exclusive phenomenon, since hydrocephalus is thought of as a fluid "plumbing" disorder leading to CSF accumulation, ventricular dilatation, and resultant macrocephaly. However, some cases of hydrocephalus can be associated with microcephaly. Recent work in the genomics of congenital hydrocephalus (CH) and an improved understanding of the tropism of certain viruses such as Zika and cytomegalovirus are beginning to shed light into the paradox "microcephalic hydrocephalus" by defining prenatal neural stem cells (NSC) as the spatiotemporal "scene of the crime." In some forms of CH and viral brain infections, impaired fetal NSC proliferation leads to decreased neurogenesis, cortical hypoplasia and impaired biomechanical interactions at the CSF-brain interface that collectively engender ventriculomegaly despite an overall and often striking decrease in head circumference. The coexistence of microcephaly and hydrocephalus suggests that these two phenotypes may overlap more than previously appreciated. Continued study of both conditions may be unexpectedly fertile ground for providing new insights into human NSC biology and our understanding of neurodevelopmental disorders.
    MeSH term(s) Pregnancy ; Female ; Humans ; Microcephaly ; Hydrocephalus/complications ; Brain ; Neural Stem Cells ; Zika Virus ; Zika Virus Infection/complications ; Biology
    Language English
    Publishing date 2024-03-23
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 1077450-6
    ISSN 1460-2199 ; 1047-3211
    ISSN (online) 1460-2199
    ISSN 1047-3211
    DOI 10.1093/cercor/bhad432
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  3. Article ; Online: Neurosurgery elucidates somatic mutations.

    Maury, Eduardo A / Walsh, Christopher A / Kahle, Kristopher T

    Science (New York, N.Y.)

    2023  Volume 382, Issue 6677, Page(s) 1360–1362

    Abstract: Surgical innovation is helping to identify roles for somatic mutations in brain disorders. ...

    Abstract Surgical innovation is helping to identify roles for somatic mutations in brain disorders.
    MeSH term(s) Humans ; Brain Diseases/genetics ; Brain Diseases/surgery ; Mutation ; Neurosurgery ; Neurosurgical Procedures
    Language English
    Publishing date 2023-12-21
    Publishing country United States
    Document type Journal Article
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.adj2244
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  4. Article ; Online: Increasing precision in the management of pediatric neurosurgical cerebrovascular diseases with molecular genetics.

    Kahle, Kristopher T / Duran, Daniel / Smith, Edward R

    Journal of neurosurgery. Pediatrics

    2023  Volume 31, Issue 3, Page(s) 228–237

    Abstract: Recent next-generation DNA and RNA sequencing studies of congenital and pediatric cerebrovascular anomalies such as moyamoya disease, arteriovenous malformations, vein of Galen malformations, and cavernous malformations have shed new insight into the ... ...

    Abstract Recent next-generation DNA and RNA sequencing studies of congenital and pediatric cerebrovascular anomalies such as moyamoya disease, arteriovenous malformations, vein of Galen malformations, and cavernous malformations have shed new insight into the genetic regulation of human cerebrovascular development by implicating multiple novel disease genes and signaling pathways in the pathogenesis of these disorders. These diseases are now beginning to be categorized by molecular disruptions in canonical signaling pathways that impact the differentiation and proliferation of specific venous, capillary, or arterial cells during the hierarchical development of the cerebrovascular system. Here, the authors discuss how the continued study of these and other congenital cerebrovascular conditions has the potential to replace the current antiquated, anatomically based disease classification systems with a molecular taxonomy that has the potential to increase precision in genetic counseling, prognostication, and neurosurgical and endovascular treatment stratification. Importantly, the authors also discuss how molecular genetic data are already informing clinical trials and catalyzing the development of targeted therapies for these conditions historically considered as exclusively neurosurgical lesions.
    MeSH term(s) Humans ; Child ; Cerebrovascular Disorders ; Cerebral Veins ; Moyamoya Disease ; Cerebral Arteries ; Molecular Biology
    Language English
    Publishing date 2023-01-06
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2403985-8
    ISSN 1933-0715 ; 1933-0707
    ISSN (online) 1933-0715
    ISSN 1933-0707
    DOI 10.3171/2022.12.PEDS22332
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  5. Article ; Online: The Efficacy of Endoscopic Third Ventriculostomy for Idiopathic Normal Pressure Hydrocephalus.

    Mehta, Neel H / Greenberg, Ana B W / Kahle, Kristopher T

    World neurosurgery

    2023  Volume 179, Page(s) 158–166

    Abstract: Recently, intervention with endoscopic third ventriculostomy (ETV) for patients with idiopathic normal pressure hydrocephalus (iNPH) has emerged as a potential minimally invasive alternative to traditional treatments (ventriculoperitoneal shunting). The ... ...

    Abstract Recently, intervention with endoscopic third ventriculostomy (ETV) for patients with idiopathic normal pressure hydrocephalus (iNPH) has emerged as a potential minimally invasive alternative to traditional treatments (ventriculoperitoneal shunting). The clinical response to these interventions is variable and unclear. The objective of this review was to assess the efficacy of endoscopic third ventriculostomy in treating patients with iNPH. A systematic review of PubMed, Web of Science, and Google Scholar was conducted using search terms relevant to ETV and iNPH. Included studies met consistent, predetermined diagnostic criteria for iNPH, implemented ETV in subjects greater than 40 years of age, and assessed all 3 components of Hakim's triad (gait impairment, dementia, and incontinence). Data extraction included dichotomization of successful ETV clinical outcomes and a subgroup meta-analysis of ETV success rates across binarized age groups. Meta-analysis was conducted using a Mantel-Haenszel fixed-effects model. The outcomes presented include generalized ETV success rates across all 12 studies. Age-specific individual data was measured with odds ratios, with a pooled statistic measured using the Mantel-Haenszel test. Overall, 2294 studies were identified in this search, of which 12 were selected for inclusion in this systematic review. Of these, 3 studies were utilized for age-specific meta-analyses. Preliminary synthesis of ETV clinical outcomes across all 12 studies revealed a success rate of 60.2%. Additionally, meta-analysis revealed that iNPH patients younger than or equal to 65 years of age were significantly more likely to respond successfully to ETV intervention. Heterogeneity was inconsequential in this analysis.
    MeSH term(s) Humans ; Ventriculostomy ; Hydrocephalus, Normal Pressure/surgery ; Neuroendoscopy ; Third Ventricle/surgery ; Hydrocephalus/surgery ; Ventriculoperitoneal Shunt ; Treatment Outcome ; Retrospective Studies
    Language English
    Publishing date 2023-08-23
    Publishing country United States
    Document type Systematic Review ; Meta-Analysis ; Journal Article ; Review
    ZDB-ID 2534351-8
    ISSN 1878-8769 ; 1878-8750
    ISSN (online) 1878-8769
    ISSN 1878-8750
    DOI 10.1016/j.wneu.2023.08.071
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  6. Article ; Online: Intraventricular CSF Turbulence in Pediatric Communicating Hydrocephalus.

    Duy, Phan Q / Kahle, Kristopher T

    Neurology

    2021  Volume 97, Issue 5, Page(s) 246–247

    MeSH term(s) Cerebral Ventricles/diagnostic imaging ; Cognition Disorders/etiology ; Female ; Humans ; Hydrocephalus/cerebrospinal fluid ; Hydrocephalus/diagnostic imaging ; Hydrocephalus/surgery ; Infant ; Intracranial Pressure ; Megalencephaly/complications ; Meningomyelocele/surgery ; Neuroimaging ; Treatment Outcome
    Language English
    Publishing date 2021-05-24
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0000000000012237
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  7. Article ; Online: Epilepsy Surgery for Cognitive Improvement in Epileptic Encephalopathy.

    McLaren, John R / Kahle, Kristopher T / Richardson, R Mark / Chu, Catherine J

    Neurosurgery clinics of North America

    2023  Volume 35, Issue 1, Page(s) 49–59

    Abstract: Epileptic encephalopathies are defined by the presence of frequent epileptiform activity that causes neurodevelopmental slowing or regression. Here, we review evidence that epilepsy surgery improves neurodevelopment in children with epileptic ... ...

    Abstract Epileptic encephalopathies are defined by the presence of frequent epileptiform activity that causes neurodevelopmental slowing or regression. Here, we review evidence that epilepsy surgery improves neurodevelopment in children with epileptic encephalopathies. We describe an example patient with epileptic encephalopathy without drug refractory seizures, who underwent successful diagnostic and therapeutic surgeries. In patients with epileptic encephalopathy, cognitive improvement alone is a sufficient indication to recommend surgical intervention in experienced centers.
    MeSH term(s) Child ; Humans ; Epilepsy/complications ; Epilepsy/surgery ; Cognition ; Electroencephalography
    Language English
    Publishing date 2023-10-03
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1196855-2
    ISSN 1558-1349 ; 1042-3680
    ISSN (online) 1558-1349
    ISSN 1042-3680
    DOI 10.1016/j.nec.2023.08.002
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  8. Article ; Online: Molecular genetics of human developmental neurocranial anomalies: towards "precision surgery".

    Duy, Phan Q / Timberlake, Andrew T / Lifton, Richard P / Kahle, Kristopher T

    Cerebral cortex (New York, N.Y. : 1991)

    2022  Volume 33, Issue 6, Page(s) 2912–2918

    Abstract: Recent trio-based whole-exome sequencing studies of congenital hydrocephalus and nonsyndromic craniosynostosis have identified multiple novel disease genes that have illuminated the pathogenesis of these disorders and shed new insight into the genetic ... ...

    Abstract Recent trio-based whole-exome sequencing studies of congenital hydrocephalus and nonsyndromic craniosynostosis have identified multiple novel disease genes that have illuminated the pathogenesis of these disorders and shed new insight into the genetic regulation of human brain and skull development. Continued study of these and other historically understudied developmental anomalies has the potential to replace the current antiquated, anatomically based disease classification systems with a molecular nomenclature that may increase precision for genetic counseling, prognostication, and surgical treatment stratification-including when not to operate. Data will also inform future clinical trials, catalyze the development of targeted therapies, and generate infrastructure and publicly available data sets relevant for other related nonsurgical neurodevelopmental and neuropsychiatric diseases.
    MeSH term(s) Humans ; Skull ; Craniosynostoses/genetics ; Craniosynostoses/surgery ; Forecasting ; Molecular Biology
    Language English
    Publishing date 2022-06-23
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 1077450-6
    ISSN 1460-2199 ; 1047-3211
    ISSN (online) 1460-2199
    ISSN 1047-3211
    DOI 10.1093/cercor/bhac249
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  9. Article ; Online: Case 25-2022: A 25-Year-Old Woman with Headache and Blurred Vision.

    Marra, Christina M / Rohatgi, Saurabh / Bloom, Allyson K / Kahle, Kristopher T / Haj, Amelia K

    The New England journal of medicine

    2022  Volume 387, Issue 7, Page(s) 641–650

    MeSH term(s) Adult ; Female ; Headache/etiology ; Humans ; Vision Disorders/etiology
    Language English
    Publishing date 2022-09-05
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMcpc2201241
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    Ua VI Zs.34: Show issues Location:
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  10. Article ; Online: Navigating the ventricles: Novel insights into the pathogenesis of hydrocephalus.

    Bramall, Alexa N / Anton, E S / Kahle, Kristopher T / Fecci, Peter E

    EBioMedicine

    2022  Volume 78, Page(s) 103931

    Abstract: Congenital hydrocephalus occurs in one in 500-1000 babies born in the United States and acquired hydrocephalus may occur as the consequence of stroke, intraventricular and subarachnoid hemorrhage, traumatic brain injuries, brain tumors, craniectomy or ... ...

    Abstract Congenital hydrocephalus occurs in one in 500-1000 babies born in the United States and acquired hydrocephalus may occur as the consequence of stroke, intraventricular and subarachnoid hemorrhage, traumatic brain injuries, brain tumors, craniectomy or may be idiopathic, as in the case of normal pressure hydrocephalus. Irrespective of its prevalence and significant impact on quality of life, neurosurgeons still rely on invasive cerebrospinal fluid shunt systems for the treatment of hydrocephalus that are exceptionally prone to failure and/or infection. Further understanding of this process at a molecular level, therefore, may have profound implications for improving treatment and quality of life for millions of individuals worldwide. The purpose of this article is to review the current research landscape on hydrocephalus with a focus on recent advances in our understanding of cerebrospinal fluid pathways from an evolutionary, genetics and molecular perspective.
    MeSH term(s) Heart Ventricles ; Humans ; Hydrocephalus/etiology ; Hydrocephalus/surgery ; Infant ; Quality of Life ; Subarachnoid Hemorrhage
    Language English
    Publishing date 2022-03-17
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2851331-9
    ISSN 2352-3964
    ISSN (online) 2352-3964
    DOI 10.1016/j.ebiom.2022.103931
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