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  1. Article: AED Treatment Through Different Ages: As Our Brains Change, Should Our Drug Choices Also?

    French, Jacqueline A / Staley, Brigid A

    Epilepsy currents

    2013  Volume 12, Issue Suppl 3, Page(s) 22–27

    Abstract: Patient age can impact selection of the optimal antiepileptic drug for a number of reasons. Changes in brain physiology from neonate to elderly, as well as changes in underlying etiologies of epilepsy, could potentially affect the ability of different ... ...

    Abstract Patient age can impact selection of the optimal antiepileptic drug for a number of reasons. Changes in brain physiology from neonate to elderly, as well as changes in underlying etiologies of epilepsy, could potentially affect the ability of different drugs to control seizures. Unfortunately, much of this is speculative, as good studies demonstrating differences in efficacy across age ranges do not exist. Beyond the issue of efficacy, certain drugs may be more or less appropriate at different ages because of differing pharmacokinetics, including changes in hepatic metabolism, absorption, and elimination. Lack of appropriate drug formulations (such as liquid forms) may be a barrier to using drugs in the very young. Finally, some serious adverse events are seen either exclusively or preferentially at different ages.
    Language English
    Publishing date 2013-03-08
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.5698/1535-7511-12.4s.22
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6460: Show issues Location:
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  2. Article ; Online: Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs.

    Staley, Brigid A / Vail, Emily A / Thiele, Elizabeth A

    Pediatrics

    2010  Volume 127, Issue 1, Page(s) e117–25

    Abstract: Objective: To describe presenting symptoms and signs according to age group in a cohort of 243 patients with tuberous sclerosis complex (TSC) and identify earlier symptoms and signs that did not lead to immediate diagnosis.: Patients and methods: We ... ...

    Abstract Objective: To describe presenting symptoms and signs according to age group in a cohort of 243 patients with tuberous sclerosis complex (TSC) and identify earlier symptoms and signs that did not lead to immediate diagnosis.
    Patients and methods: We performed a retrospective chart review for 278 patients with TSC who were examined at Children's Hospital Boston in Massachusetts and at the Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital. The presenting symptom or sign was the first symptom or sign to cause suspicion for TSC and lead to diagnosis. Missed symptoms or signs were those that were documented in the patient's chart but did not immediately lead to diagnosis.
    Results: There were 243 patients for whom there were sufficient data for inclusion in this study. Patients were diagnosed with TSC at ages ranging from birth to 73 years. The average age at diagnosis was 7.5 years. Of the patients, 81% were diagnosed before the age of 10. Diagnosis during adolescence and adulthood was not uncommon. The most common presenting symptoms and signs included new onset of seizures, history of seizures, infantile spasms, family history of TSC, cardiac rhabdomyomas, and hypopigmented macules. Of the patients, 39% reported missed symptoms or signs of TSC, most commonly seizures (including infantile spasms) and dermatologic features.
    Conclusions: Many patients had symptoms or signs of TSC that did not lead to immediate diagnosis. Clinicians should be aware of the myriad potential presenting symptoms and signs of TSC. Early diagnosis may reduce morbidity and mortality.
    MeSH term(s) Adolescent ; Adult ; Age Factors ; Aged ; Child ; Child, Preschool ; Humans ; Infant ; Infant, Newborn ; Middle Aged ; Retrospective Studies ; Tuberous Sclerosis/diagnosis ; Young Adult
    Language English
    Publishing date 2010-12-20
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 207677-9
    ISSN 1098-4275 ; 0031-4005
    ISSN (online) 1098-4275
    ISSN 0031-4005
    DOI 10.1542/peds.2010-0192
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.MO 357: Show issues

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  3. Article ; Online: Lymphedema in tuberous sclerosis complex.

    Geffrey, Alexandra L / Shinnick, Julianna E / Staley, Brigid A / Boronat, Susana / Thiele, Elizabeth A

    American journal of medical genetics. Part A

    2014  Volume 164A, Issue 6, Page(s) 1438–1442

    Abstract: Congenital lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of ... ...

    Abstract Congenital lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of the mammalian target of rapamycin (mTOR) pathway. The aim of this study is to review cases of lymphedema in a large cohort of TSC patients. The medical records of 268 patients seen at The Herscot Center for Children and Adults with Tuberous Sclerosis Complex at the Massachusetts General Hospital from 2002 to 2012 were retrospectively reviewed for reports of lymphedema or edema of unknown etiology. Genotypic and phenotypic data were collected in accordance with institutional review board (IRB) approval. This cohort presents two new cases of congenital lymphedema in TSC patients and acquired lymphedema was found in eight additional cases. Thus, we report 10 new cases of lymphedema in TSC (4%). The two patients with congenital lymphedema were female, as were the previous six reported cases. The frequency of lymphedema reported here (4%) is higher than the estimated prevalence in the general population (0.133-0.144%), suggesting a higher frequency of lymphedema in TSC. This study shows that patients with TSC and lymphedema are more likely to be females with renal AMLs and suggests that congenital lymphedema is a gender-specific (female) manifestation of TSC. Exploration of the potential role of mTOR antagonists may be important in treatment of lymphedema in TSC patients.
    MeSH term(s) Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Lymphedema/complications ; Lymphedema/epidemiology ; Lymphedema/genetics ; Male ; Middle Aged ; Retrospective Studies ; TOR Serine-Threonine Kinases/genetics ; Tuberous Sclerosis/epidemiology ; Tuberous Sclerosis/genetics ; Tuberous Sclerosis/pathology ; Tuberous Sclerosis Complex 2 Protein ; Tumor Suppressor Proteins/genetics
    Chemical Substances Tuberous Sclerosis Complex 2 Protein ; Tumor Suppressor Proteins ; MTOR protein, human (EC 2.7.1.1) ; TOR Serine-Threonine Kinases (EC 2.7.1.1)
    Language English
    Publishing date 2014-03-25
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.36469
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Severity of manifestations in tuberous sclerosis complex in relation to genotype.

    Kothare, Sanjeev V / Singh, Kanwaljit / Chalifoux, Jason R / Staley, Brigid A / Weiner, Howard L / Menzer, Kimberly / Devinsky, Orrin

    Epilepsia

    2014  Volume 55, Issue 7, Page(s) 1025–1029

    Abstract: Objective: Patients with tuberous sclerosis complex (TSC) commonly present with significant neurologic deficits, including seizures, autism, and intellectual disability. Previous evidence suggests that the TSC2 mutation genotype may be associated with a ...

    Abstract Objective: Patients with tuberous sclerosis complex (TSC) commonly present with significant neurologic deficits, including seizures, autism, and intellectual disability. Previous evidence suggests that the TSC2 mutation genotype may be associated with a more severe disease phenotype. This study evaluates the association of the TSC1 and TSC2 genotype with patient and disease characteristics in a retrospective review of a large TSC Natural History Database consisting of 919 patients with TSC.
    Methods: Univariate logistic regression was conducted to evaluate the association of the TSC1 and TSC2 gene mutations with patient and disease characteristics.
    Results: As compared to patients with the TSC1 mutation, patients with the TSC2 mutation were younger (p = 0.02), more likely to have partial epilepsy (odds ratio (OR) 1.74, p = 0.0015), complex partial seizures (OR 2.03, p = 0.02), infantile spasms (IS) (OR 1.67, p = 0.01), subependymal giant-cell astrocytomas (SEGAs) (OR 1.64, p = 0.01), and intellectual disability (OR 2.90, p = 0.0002).
    Significance: The clinical presentation of TSC is highly variable and not well understood. Our findings confirm and supplement existing literature that TSC2 mutation is likely to be associated with a more severe, earlier presenting TSC phenotype, including infantile spasms.
    MeSH term(s) Adolescent ; Adult ; Belgium/epidemiology ; Child ; Child, Preschool ; Databases, Factual/trends ; Female ; Genotype ; Humans ; Infant ; Male ; Middle Aged ; Retrospective Studies ; Severity of Illness Index ; Tuberous Sclerosis/diagnosis ; Tuberous Sclerosis/genetics ; Tumor Suppressor Proteins/genetics ; United States/epidemiology ; Young Adult
    Chemical Substances Tumor Suppressor Proteins ; tuberous sclerosis complex 2 protein (4JG2LF96VF)
    Language English
    Publishing date 2014-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/epi.12680
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 517: Show issues Location:
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    Zs.MO 475: Show issues

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  5. Article ; Online: Genotype/phenotype in tuberous sclerosis complex: associations with clinical and radiologic manifestations.

    Kothare, Sanjeev V / Singh, Kanwaljit / Hochman, Tsivia / Chalifoux, Jason R / Staley, Brigid A / Weiner, Howard L / Menzer, Kimberly / Devinsky, Orrin

    Epilepsia

    2014  Volume 55, Issue 7, Page(s) 1020–1024

    Abstract: Objectives: Patients with tuberous sclerosis complex (TSC) frequently have autism spectrum disorders and neuropsychiatric disorders. Subependymal giant cell astrocytomas (SEGAs) have been reported to occur in 5-20% of patients with TSC; however, the ... ...

    Abstract Objectives: Patients with tuberous sclerosis complex (TSC) frequently have autism spectrum disorders and neuropsychiatric disorders. Subependymal giant cell astrocytomas (SEGAs) have been reported to occur in 5-20% of patients with TSC; however, the relationship between SEGAs and neuropsychiatric disorders in TSC remains unknown. We utilized a large multicenter database to study associations between SEGAs and neuropsychiatric disorders in patients with TSC.
    Methods: Associations between the presence of SEGAs and neuropsychiatric disorders were examined in a retrospective review of 916 patients enrolled in the TSC Natural History Database Project (Tuberous Sclerosis Alliance).
    Results: Among the 916 TSC patients, 226 had SEGAs (25%) and 155 had autism spectrum disorder (ASD) (17%). Compared to patients without SEGAs, patients with SEGAs were 1.83 (95% confidence interval [CI] 1.26-2.66) times more likely to have ASD. No significant relationship was found between SEGAs and intellectual disability, attention-deficit/hyperactive disorder, or major depressive disorder.
    Significance: The clinical presentation of TSC is highly variable and not well understood. These data show that SEGAs are associated with ASD in patients with TSC, suggesting that the pathologic changes leading to SEGA formation may also predispose patients to ASD.
    MeSH term(s) Belgium/epidemiology ; Child ; Child, Preschool ; Databases, Factual/trends ; Female ; Genotype ; Humans ; Infant ; Male ; Phenotype ; Radiography ; Retrospective Studies ; Tuberous Sclerosis/diagnostic imaging ; Tuberous Sclerosis/epidemiology ; Tuberous Sclerosis/genetics ; United States/epidemiology
    Language English
    Publishing date 2014-07
    Publishing country United States
    Document type Journal Article ; Multicenter Study
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/epi.12627
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Behavior problems in children with tuberous sclerosis complex and parental stress.

    Kopp, Claudine M C / Muzykewicz, David A / Staley, Brigid A / Thiele, Elizabeth A / Pulsifer, Margaret B

    Epilepsy & behavior : E&B

    2008  Volume 13, Issue 3, Page(s) 505–510

    Abstract: Behavioral problems are common in children with tuberous sclerosis complex (TSC) and can be challenging to manage at home. Standardized measures were used to assess behavior in 99 pediatric patients with TSC and to evaluate parenting stress in their ... ...

    Abstract Behavioral problems are common in children with tuberous sclerosis complex (TSC) and can be challenging to manage at home. Standardized measures were used to assess behavior in 99 pediatric patients with TSC and to evaluate parenting stress in their parents. About 40% of the pediatric patients presented clinically significant behavioral problems, most frequently involving symptoms of autism spectrum disorder, inattention, and hyperactivity. Higher seizure frequency, mixed seizure disorder, and low intellectual functioning placed the patient at significant risk for behavior problems. Almost 50% of participating parents reported experiencing clinically significant parenting stress, which was associated with specific characteristics of the child, including the presence of current seizures, a history of psychiatric diagnosis, low intelligence, and behavioral problems. Clinicians should be aware that behavioral problems are prominent in children with TSC. Referrals for behavioral intervention and monitoring of parental stress should be included in the medical management of children with TSC.
    MeSH term(s) Adaptation, Psychological/physiology ; Adolescent ; Adult ; Analysis of Variance ; Child ; Child Behavior Disorders/etiology ; Child, Preschool ; Emotions/physiology ; Female ; Humans ; Intelligence ; Male ; Middle Aged ; Parent-Child Relations ; Parents/psychology ; Retrospective Studies ; Stress, Psychological/physiopathology ; Tuberous Sclerosis/complications ; Tuberous Sclerosis/psychology
    Language English
    Publishing date 2008-10
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2010587-3
    ISSN 1525-5069 ; 1525-5050
    ISSN (online) 1525-5069
    ISSN 1525-5050
    DOI 10.1016/j.yebeh.2008.05.010
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Characterizing sleep disorders of adults with tuberous sclerosis complex: a questionnaire-based study and review.

    van Eeghen, Agnies M / Numis, Adam I / Staley, Brigid A / Therrien, Samuel E / Thibert, Ronald L / Thiele, Elizabeth A

    Epilepsy & behavior : E&B

    2010  Volume 20, Issue 1, Page(s) 68–74

    Abstract: An adult cohort with tuberous sclerosis complex was investigated for the prevalence of sleep disturbances and the relationship with seizure variables, medication, and psychological functioning. Information on 35 adults was gathered using four ... ...

    Abstract An adult cohort with tuberous sclerosis complex was investigated for the prevalence of sleep disturbances and the relationship with seizure variables, medication, and psychological functioning. Information on 35 adults was gathered using four questionnaires: Epworth Sleepiness Scale (ESS), Sleep and Epilepsy Questionnaire (SEQ), Sleep Diagnosis List (SDL), and Adult Self-Report Scale (ASR). In addition, clinical, genetic and electrophysiological data were collected. Of 35 respondents, 25 had a history of epilepsy. A subjective sleep disorder was found in 31% of the cohort. Insomnia scores showed a significant positive correlation with obstructive sleep apnea syndrome and restless legs syndrome scores. Significant correlations were found between daytime sleepiness and scores on depression, antisocial behavior, and use of mental health medication. A subgroup using antiepileptic medication showed high correlations between daytime sleepiness, attention deficits, and anxiety scores.
    MeSH term(s) Adult ; DNA Mutational Analysis ; Electroencephalography ; Female ; Humans ; Male ; Sleep Wake Disorders/complications ; Sleep Wake Disorders/diagnosis ; Sleep Wake Disorders/genetics ; Surveys and Questionnaires ; Tuberous Sclerosis/complications ; Tuberous Sclerosis/genetics
    Language English
    Publishing date 2010-12-03
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2010587-3
    ISSN 1525-5069 ; 1525-5050
    ISSN (online) 1525-5069
    ISSN 1525-5050
    DOI 10.1016/j.yebeh.2010.10.023
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Self-injurious behavior and tuberous sclerosis complex: frequency and possible associations in a population of 257 patients.

    Staley, Brigid A / Montenegro, Maria A / Major, Philippe / Muzykewicz, David A / Halpern, Elkan F / Kopp, Claudine M C / Newberry, Peter / Thiele, Elizabeth A

    Epilepsy & behavior : E&B

    2008  Volume 13, Issue 4, Page(s) 650–653

    Abstract: Self-injurious behavior (SIB) has been observed in people with tuberous sclerosis complex (TSC), although the frequency of SIB in TSC is largely unknown. SIB is associated with intellectual and developmental disabilities, but there is no single cause of ... ...

    Abstract Self-injurious behavior (SIB) has been observed in people with tuberous sclerosis complex (TSC), although the frequency of SIB in TSC is largely unknown. SIB is associated with intellectual and developmental disabilities, but there is no single cause of SIB. We retrospectively examined the frequency of SIB in a population of 257 patients with TSC and determined possible associations with SIB. We found a 10% frequency of SIB in our TSC population. When compared with patients without psychiatric symptoms, we identified a significantly higher rate of electroencephalographic interictal spikes in the left frontal lobe and a significantly lower number of tubers in the left occipital, parietal, and posterior temporal lobes. We also found that frequency of TSC2 mutation, history of infantile spasms, history of seizures, mental retardation, and autism are significantly associated with SIB.
    MeSH term(s) Adolescent ; Adult ; Child ; Electroencephalography ; Female ; Humans ; Male ; Middle Aged ; Psychiatric Status Rating Scales ; Self-Injurious Behavior/epidemiology ; Self-Injurious Behavior/etiology ; Tuberous Sclerosis/complications ; Tuberous Sclerosis/epidemiology ; Young Adult
    Language English
    Publishing date 2008-11
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2010587-3
    ISSN 1525-5069 ; 1525-5050
    ISSN (online) 1525-5069
    ISSN 1525-5050
    DOI 10.1016/j.yebeh.2008.07.010
    Database MEDical Literature Analysis and Retrieval System OnLINE

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