• Disease
  • Weber
  • Weber Syndrome
  • Anne M Comi

    Prominent publications by Anne M Comi

    KOL Index score: 11698

    BACKGROUND: The Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder characterized by a port-wine stain affecting the skin in the distribution of the ophthalmic branch of the trigeminal nerve, abnormal capillary venous vessels in the leptomeninges of the brain and choroid, glaucoma, seizures, stroke, and intellectual disability. It has been hypothesized that somatic mosaic mutations disrupting vascular development cause both the Sturge-Weber syndrome and port-wine ...

    Also Ranks for: Weber Syndrome |  somatic mutation |  wine stain |  gtp binding |  alpha subunits
    KOL Index score: 11591

    OBJECTIVE: Since 2014, cannabidiol (CBD) has been administered to patients with treatment-resistant epilepsies (TREs) in an ongoing expanded-access program (EAP). We report interim results on the safety and efficacy of CBD in EAP patients treated through December 2016.

    METHODS: Twenty-five US-based EAP sites enrolling patients with TRE taking stable doses of antiepileptic drugs (AEDs) at baseline were included. During the 4-week baseline period, parents/caregivers kept diaries of all ...

    Also Ranks for: Cbd Patients |  12 weeks |  access program |  resistant epilepsies |  efficacy aes
    KOL Index score: 10151

    Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that presents with a facial port-wine stain and a leptomeningeal angioma. Fibronectin expression regulates angiogenesis and vasculogenesis and participates in brain tissue responses to ischemia and seizures. We therefore hypothesized that abnormal gene expression of fibronectin and other extracellular matrix genes would be found in SWS brain tissue and SWS port-wine skin fibroblasts. Fibronectin gene and protein expression from ...

    Also Ranks for: Fibronectin Expression |  weber syndrome |  port wine |  brain tissue |  derived fibroblasts
    KOL Index score: 9927

    Autism is an age-dependent neurologic disorder that is often associated with autoimmune disorders in the patients' relatives. To evaluate the frequency of autoimmune disorders, as well as various prenatal and postnatal events in autism, we surveyed the families of 61 autistic patients and 46 healthy controls using questionnaires. The mean number of autoimmune disorders was greater in families with autism; 46% had two or more members with autoimmune disorders. As the number of family ...

    Also Ranks for: Autoimmune Disorders |  families autism |  rheumatoid autistic |  odds ratios |  type 1 diabetes
    KOL Index score: 9559

    OBJECTIVE: Many infants born with a facial port-wine (PW) birthmark will not develop brain involvement of Sturge-Weber syndrome (SWS). Previous studies have shown asymmetry in quantitative EEG (qEEG) correlates with degree of clinical impairment in children and adults with known SWS. We hope to determine if quantitative qEEG can be used as a method to predict which infants are most likely to develop SWS brain involvement on MRI. The current study looks at the ability of qEEG to ...

    Also Ranks for: Brain Involvement |  quantitative eeg |  wine birthmark |  sturge sws |  infants port
    KOL Index score: 8096

    IMPORTANCE: With the recent development of enhanced depth imaging spectral-domain optical coherence tomography (SD-OCT), it is now possible to measure choroidal thickness in patients with Sturge-Weber syndrome and detect abnormalities that are not visible as part of the fundus examination.

    OBSERVATIONS: We were successful in imaging at least 1 eye in 12 individuals with Sturge-Weber syndrome using enhanced depth imaging SD-OCT. Eyes were defined as affected if they manifested at least ...

    Also Ranks for: Choroidal Thickness |  weber syndrome |  enhanced depth |  fundus examination |  optical coherence
    KOL Index score: 7726

    Stroke in the neonatal brain is an important cause of neurologic morbidity. To characterize the dynamics of neural progenitor cell proliferation and maturation after survival delays in the neonatal brain following ischemia, we utilized unilateral carotid ligation alone to produce infarcts in postnatal day 12 CD1 mice. We investigated the neurogenesis derived from the sub-ventricular zone and the sub-granular zone of the dentate gyrus subsequent to injury. Newly produced cells were ...

    Also Ranks for: Neonatal Stroke |  postnatal day |  newborn cells |  ischemia brain |  mouse model
    KOL Index score: 7634

    Sturge-Weber syndrome is associated with leptomeningeal angioma, trigeminal port-wine stain, epilepsy, and glaucoma. Clinically, many patients with Sturge-Weber syndrome are observed to have both seizures and headaches, but this has never been described in the literature. A questionnaire was mailed to 190 patients with reported comorbid epilepsy and headache as identified by the Sturge-Weber Foundation. Sixty-eight surveys were returned anonymously; 55 reported both seizures and ...

    Also Ranks for: Weber Syndrome |  seizures headaches |  patients sturge |  leptomeningeal angioma |  age onset
    KOL Index score: 7507

    Sturge-Weber syndrome is a rare disorder manifesting with a facial port-wine birthmark and a vascular malformation of the brain. Infants and children present with seizures and stroke-like episodes with focal neurologic deficits. Our previous investigations revealed that growth-hormone deficiency occurs with an increased prevalence in Sturge-Weber syndrome, presumably secondary to involvement of the hypothalamic-pituitary axis. We have continued to screen for hormonal abnormalities in ...

    Also Ranks for: Central Hypothyroidism |  weber syndrome |  brain involvement |  vascular malformation |  clinical manifestations
    KOL Index score: 6986

    PURPOSE: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder with vascular malformations of the skin, brain, and eye. SWS results in ischemic brain injury, seizures, and neurologic deficits. We hypothesized that a decrease in quantitative EEG (qEEG) power, on the affected side, correlates with clinical severity in subjects with SWS.

    METHODS: Fourteen subjects had 16-channel scalp EEG recordings. Data were analyzed using fast Fourier transform and calculation of power asymmetry. ...

    Also Ranks for: Clinical Severity |  weber syndrome |  quantitative eeg |  neurologic deficits |  vascular malformations
    KOL Index score: 6939

    Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a ...

    Also Ranks for: Neurocutaneous Disorders |  neurofibromatosis type |  tuberous sclerosis complex |  weber syndrome |  mechanistic target
    KOL Index score: 6845

    Stroke is an important cause of neurologic injury in the neonatal period and frequently results in lifelong neurologic impairments. We reported previously that unilateral carotid ligation on postnatal day (P)12 in CD1 mice causes acute behavioral seizures and unilateral brain injury and provides a model for neonatal stroke in human infants. In the present study we confirmed that behavioral seizures observed after ligation on P12 in the CD1 strain are associated with rhythmic ictal ...

    Also Ranks for: Brain Injury |  carotid ligation |  cd1 mice |  sham surgery |  c57bl 6
    KOL Index score: 6710

    Ischemic brain injury from stroke is an important cause of disability in infants and children, but current experimental models for the disorder are complex. These preparations require occlusion of small intracerebral vessels or common carotid artery ligation combined with exposure to reduced levels of oxygen. Unilateral carotid artery ligation alone was sufficient to cause brain injury in more than 70% of 12-day-old CD1 mice. Using a blinded behavioral rating scale of seizure activity in ...

    Also Ranks for: New Model |  ischemic seizures |  immature mouse |  brain injury |  ligation mice
    KOL Index score: 6672

    Sturge-Weber syndrome (SWS) is defined by the association of a facial capillary malformation (port-wine stain), with a vascular malformation of the eye, and/or vascular malformation of the brain (leptomeningeal angioma). Variants exist where only one of these three structures is involved with the vascular malformation. SWS occurs sporadically and is congenital. Port-wine stains occur in 3 per 1000 live births. No good population-based data exist for how many people have Sturge-Weber ...

    Also Ranks for: Sturgeweber Syndrome |  vascular malformation |  leptomeningeal angioma |  portwine stain |  early diagnosis
    KOL Index score: 6515

    Perinatal hypoxic-ischemic brain injury and stroke in the developing brain remain important causes of chronic neurologic morbidity. Emerging data suggest that transplantation of umbilical cord blood-derived stem cells may have therapeutic potential for neuroregeneration and improved functional outcome. The pluripotent capacity of stem cells from the human umbilical cord blood provides simultaneous targeting of multiple neuropathologic events initiated by a hypoxic-ischemic insult. Their ...

    Also Ranks for: Cord Blood |  stem cell |  brain injury |  human umbilical |  therapeutic potential


    Anne M Comi: Influence Statistics

    Sample of concepts for which Anne M Comi is among the top experts in the world.
    Concept World rank
    sws preschool chromatography #1
    – weber #1
    rare neurocutaneous disorder #1
    pathophysiology sturge #1
    –weber syndrome patients #1
    hemiparesis visual #1
    sws proteins #1
    angiography illustrated osteohypertrophy #1
    abnormalities subset #1
    pwb sws risk #1
    predict neurologic outcome #1
    involvement sturge #1
    pwb risk #1
    advances sturgeweber syndrome #1
    quantitative eeg prediction #1
    dg neurogenesis tsa #1
    mri birthday #1
    infants portwine birthmark #1
    illness sturgeweber syndrome #1
    hemiparesis cognitive #1
    impaired visualspatial function #1
    p12 cd1 #1
    pwb extent #1
    brdu increased mortality #1
    sturge – #1
    gαq sturge #1
    partial hypopituitarism patients #1
    study stimulant medication #1
    young children seizures #1
    mutation sturge #1
    mris low sensitivity #1
    pathogenesis sws #1
    nearby skin eye #1
    sturge #1
    facial birthmark #1
    sturgeweber sturge #1
    facial pwb #1
    pwb sws #1
    sensorimotor reflex circuit #1
    cognitive impairment subscores #1
    weber syndrome #1
    throat problems patients #1
    sturgeweber syndrome anticonvulsants #1
    prior reports complication #1
    sws clinical #1
    child sturgeweber syndrome #1

    Key People For Weber Syndrome

    Top KOLs in the world
    Anne M Comi
    weber syndrome neonatal stroke brain injury
    Harry T Chugani†
    infantile spasms positron emission tomography weber syndrome
    Bernard LM Maria
    joubert syndrome gene therapy lateral gaze
    Csaba Juhász
    weber syndrome glucose metabolism corticospinal tract
    Eva Sujansky
    sonic hedgehog recombinant 8 syndrome presymptomatic testing
    Susan Conradi
    onset seizures weber syndrome 52 adults

    Anne M Comi:Expert Impact

    Concepts for whichAnne M Comihas direct influence:Weber syndrome,  Sturgeweber syndrome,  Neonatal stroke,  Patients sturgeweber syndrome,  Sturge weber,  Brain involvement,  Brain injury,  Clinical severity.

    Anne M Comi:KOL impact

    Concepts related to the work of other authors for whichfor which Anne M Comi has influence:Weber syndrome,  Vascular malformations,  Autism spectrum disorder,  Autistic children,  Brain injury,  Somatic mutations,  Neonatal stroke.



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    Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA | Department of Neurology, Hugo Moser Kennedy Krieger Research Institute, Baltimore, Maryland | Department of Pediatrics, Johns Hopkins Hospital,