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1.
Urology ; 135: 82-87, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31618658

RESUMO

OBJECTIVE: To assess long-term outcome after selective arterial embolization (SAE) as first-line treatment for large or symptomatic AML. DESIGN, SETTING, AND PARTICIPANTS: Data from a prospectively maintained database on 71 patients who underwent SAE for large or symptomatic AML were reviewed. Patients with sporadic and tuberous-sclerosis-complex (TSC) were included. OUTCOME MEASUREMENTS: The main endpoints were re-embolization rates, occurrence of clinical events related to AML, size of AML, and renal function. RESULTS: Thirteen (19.1%) patients reported at least 1 major clinical event. Major complications affected 2 patients (2.9%), both ending in complete loss of renal unit function. Four renal units (5.9%) were eventually treated surgically. The re-embolization rate was 41.1%, with an average time from the initial to a repeat SAE of 2.18 years (range 0.31-10.65 years). The size of the tumor prior to SAE and after 5 and 10 years of follow-up were 8.9 cm (7-12), 6.5 cm (4-7.5), 7 cm (4-7.8), respectively [median (IQR)]. These results are translated to a size reduction of 27% in 10 years follow-up. Patients with TSC had larger tumors on long-term follow-up (77.8 vs 41.3 mm, P = .045). The long-term follow-up estimated average glomerular filtration rate was 81.97 (range 26-196). No patient needed renal replacement therapy, and disease-specific survival was 100%. CONCLUSIONS: SAE is a safe treatment option for patients with symptomatic or large AML. It represents a minimally invasive intervention with good long-term outcome. SAE may be offered as first-line treatment in most cases, though, it is associated with high retreatment rates.


Assuntos
Angiomiolipoma/terapia , Embolização Terapêutica/efeitos adversos , Neoplasias Renais/terapia , Complicações Pós-Operatórias/epidemiologia , Esclerose Tuberosa/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Angiomiolipoma/etiologia , Angiomiolipoma/mortalidade , Embolização Terapêutica/métodos , Embolização Terapêutica/estatística & dados numéricos , Feminino , Seguimentos , Humanos , Neoplasias Renais/etiologia , Neoplasias Renais/mortalidade , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Estudos Prospectivos , Reoperação/estatística & dados numéricos , Análise de Sobrevida , Fatores de Tempo , Resultado do Tratamento , Esclerose Tuberosa/complicações , Esclerose Tuberosa/mortalidade , Adulto Jovem
3.
Postgrad Med ; 131(7): 445-452, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31443616

RESUMO

Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Subjects and Methods: Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric tertiary care hospital in Athens (Greece); and systematic chart review of the patients diagnosed with neurofibromatosis type 1 during this time period. Results: The most frequent neurocutaneous syndromes were neurofibromatosis type 1 (NF1) in 89 patients and tuberous sclerosis complex in 17. In 20.38% of patients a neurocutaneous syndrome was not confirmed. Approximately 2/3 of the NF1 patients underwent genetic analysis, and for 76.67% of them, a pathogenic mutation on the NF1 gene was revealed. Eighty-one patients manifested with generalized NF1 and eight with mosaic NF1. Dermatological manifestations included café-au-lait macules in all patients, followed by axillary and/or inguinal freckling (n = 57), external plexiform neurofibromas (n = 17), and cutaneous and subcutaneous neurofibromas (n = 11). Approximately half of patients had learning disabilities and attention deficit hyperactivity disorder, followed by mental retardation (n = 9), autistic spectrum disorders (n = 4), headaches (n = 3) and seizures (n = 2). Neuroimaging showed characteristic areas of hyperintensity on T2-weighted images in 74.07% of patients and optic pathway glioma in 19.75%. Two patients developed malignant peripheral sheath nerve tumor. Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data.


Assuntos
Neurofibromatose 1/fisiopatologia , Equipe de Assistência ao Paciente , Esclerose Tuberosa/fisiopatologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Espectro Autista/complicações , Manchas Café com Leite/complicações , Criança , Pré-Escolar , Estudos de Coortes , Dermatologistas , Feminino , Genes da Neurofibromatose 1 , Testes Genéticos , Genética Médica , Grécia , Humanos , Lactente , Deficiência Intelectual/complicações , Masculino , Mosaicismo , Síndromes Neurocutâneas/genética , Síndromes Neurocutâneas/fisiopatologia , Síndromes Neurocutâneas/terapia , Neurofibroma Plexiforme/complicações , Neurofibromatose 1/complicações , Neurofibromatose 1/genética , Neurofibromatose 1/terapia , Neurologistas , Neuropsicologia , Oncologistas , Oftalmologistas , Cirurgiões Ortopédicos , Ambulatório Hospitalar , Pediatras , Radiologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/fisiopatologia , Neoplasias Cutâneas/terapia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/genética , Esclerose Tuberosa/terapia
4.
Dermatol Clin ; 37(4): 583-606, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31466597

RESUMO

Phakomatoses present with characteristic findings on the skin, central or peripheral nervous system, and tumors. Neurofibromatosis type 1 is the most common syndrome and is characterized by Café-au-lait macules, intertriginous freckling, Lisch nodules, and tumors including neurofibromas, malignant peripheral nerve sheath tumors, and gliomas. Tuberous Sclerosis Complex is characterized by benign hamartomas presenting with hypomelanotic macules, shagreen patches, angiofibromas, confetti lesions and tumors including cortical tubers, subependymal nodules, subependymal giant cell astrocytomas and tumors of the kidney, lung, and heart. Managing these disorders requires disease specific supportive care, tumor monitoring, surveillance for selected cancers, and treatment of comorbid conditions.


Assuntos
Neurofibromatose 1/patologia , Pele/patologia , Esclerose Tuberosa/patologia , Genes da Neurofibromatose 1 , Humanos , Síndromes Neurocutâneas/diagnóstico , Síndromes Neurocutâneas/genética , Síndromes Neurocutâneas/patologia , Síndromes Neurocutâneas/terapia , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Neurofibromatose 1/terapia , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Esclerose Tuberosa/terapia , Proteína 1 do Complexo Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa/genética
5.
Medicine (Baltimore) ; 98(19): e15545, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31083211

RESUMO

RATIONALE: Tuberous sclerosis complex (TSC) is a relatively rare, autosomal dominant, and progressive neurocutaneous disorder involving multiple organs. Heterozygous mutations in the TSC1 gene located on chromosome 9 (9q34.13) or the TSC2 gene located on chromosome 16 (16p13.3) have been shown to be responsible for this disorder. The most common clinical manifestations are abnormalities of the skin, brain, kidney, heart, and lungs. Although all seizure types have been observed in TSC patients, the present case is the first in the literature to present with convulsive status epilepticus followed by hypoxic cerebropathy. PATIENT CONCERNS: A 33-month-old girl presented with fever and seizure followed by unconsciousness for 6 hours. Physical examination showed 4 hypopigmented macules with diameters exceeding 5 mm. Initial magnetic resonance imaging of the brain revealed diffuse edema in the bilateral cerebral cortex, cortical tubers, and subependymal nodules. Video electroencephalography showed no epileptiform activity, but diffuse slow waves intermixed with small fast waves were seen for all leads. Computed tomography brain scanning revealed bilateral cortex edema and calcified subependymal nodules. DIAGNOSIS: Combined with her clinical presentation, the patient was diagnosed with TSC after molecular analysis revealed she had inherited the TSC2 c.1832G>A (p.R611Q) mutation from her mother. INTERVENTIONS: The patient received anti-infection therapy, mannitol dehydration, hyperbaric oxygen treatment, and topiramate. OUTCOMES: One month later, the patient was in a decorticate state, presenting with unconsciousness and bilateral arm flexion and leg extension. At 6 weeks, repeated electroencephalography was normal. LESSONS: In addition to the present case report, rare studies have reported cases of TSC presenting as convulsive status epileticus followed by hypoxic cerebropathy, which may be strongly associated with a poor prognosis. Patients with the characteristic skin lesions and epilepsy should be carefully evaluated for the possible diagnosis of TSC.


Assuntos
Hipóxia Encefálica/diagnóstico , Hipóxia Encefálica/etiologia , Estado Epiléptico/complicações , Estado Epiléptico/diagnóstico , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Hipóxia Encefálica/genética , Hipóxia Encefálica/terapia , Mutação , Estado Epiléptico/genética , Estado Epiléptico/terapia , Esclerose Tuberosa/genética , Esclerose Tuberosa/terapia , Proteína 2 do Complexo Esclerose Tuberosa/genética
6.
Dermatol Clin ; 37(2): 229-239, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30850045

RESUMO

The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, ichthyoses, overgrowth syndromes, interferonopathies, and basal cell nevus syndrome, and how this has translated into novel targeted therapies and improved patient care.


Assuntos
Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/terapia , Doenças Autoimunes do Sistema Nervoso/diagnóstico , Doenças Autoimunes do Sistema Nervoso/genética , Doenças Autoimunes do Sistema Nervoso/terapia , Síndrome do Nevo Basocelular/diagnóstico , Síndrome do Nevo Basocelular/genética , Síndrome do Nevo Basocelular/terapia , Classe I de Fosfatidilinositol 3-Quinases/antagonistas & inibidores , Dermabrasão , Fármacos Dermatológicos/uso terapêutico , Testes Genéticos , Doenças Hereditárias Autoinflamatórias/diagnóstico , Doenças Hereditárias Autoinflamatórias/genética , Doenças Hereditárias Autoinflamatórias/terapia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Eritrodermia Ictiosiforme Congênita/diagnóstico , Eritrodermia Ictiosiforme Congênita/genética , Eritrodermia Ictiosiforme Congênita/terapia , Inibidores de Janus Quinases/uso terapêutico , Terapia a Laser , Lipoma/diagnóstico , Lipoma/genética , Lipoma/terapia , Técnicas de Diagnóstico Molecular , Mosaicismo , Anormalidades Musculoesqueléticas/diagnóstico , Anormalidades Musculoesqueléticas/genética , Anormalidades Musculoesqueléticas/terapia , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/terapia , Nevo/diagnóstico , Nevo/genética , Nevo/terapia , Pitiríase Rubra Pilar/diagnóstico , Pitiríase Rubra Pilar/genética , Pitiríase Rubra Pilar/terapia , Inibidores de Proteínas Quinases/uso terapêutico , Síndrome de Proteu/diagnóstico , Síndrome de Proteu/genética , Síndrome de Proteu/terapia , Proteínas Proto-Oncogênicas c-akt/antagonistas & inibidores , Análise de Sequência de DNA , Dermatopatias Genéticas/genética , Protetores Solares/uso terapêutico , Serina-Treonina Quinases TOR/antagonistas & inibidores , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Esclerose Tuberosa/terapia , Ustekinumab/uso terapêutico
8.
QJM ; 112(3): 171-182, 2019 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-30247655

RESUMO

BACKGROUND: The severity of Tuberous Sclerosis Complex (TSC) can vary among affected individuals. Complications of TSC can be life threatening, with significant impact on patients' quality of life. Management may vary dependent on treating physician, local and national policies, and funding. There are no current UK guidelines. We conducted a Delphi consensus process to reach agreed guidance for the management of patients with TSC in the UK. METHODS: We performed a literature search and reviewed the 2012/13 international guideline for TSC management. Based on these, a Delphi questionnaire was formed. We invited 86 clinicians and medical researchers to complete an online survey in two rounds. All the people surveyed were based in the UK. Clinicians were identified through the regional TSC clinics, and researchers were identified through publications. In round one, 55 questions were asked. In round two, 18 questions were asked in order to obtain consensus on the outstanding points that had been contentious in round one. The data was analysed by a core committee and subcommittees, which consisted of UK experts in different aspects of TSC. The Tuberous Sclerosis Association was consulted. RESULTS: About 51 TSC experts took part in this survey. Two rounds were required to achieve consensus. The responders were neurologists, nephrologists, psychiatrist, psychologists, oncologists, general paediatricians, dermatologist, urologists, radiologists, clinical geneticists, neurosurgeons, respiratory and neurodisability clinicians. CONCLUSIONS: These new UK guidelines for the management and surveillance of TSC patients provide consensus guidance for delivery of best clinical care to individuals with TSC in the UK.


Assuntos
Esclerose Tuberosa/epidemiologia , Esclerose Tuberosa/terapia , Humanos , Vigilância da População , Qualidade de Vida , Inquéritos e Questionários , Reino Unido/epidemiologia
10.
Medicine (Baltimore) ; 97(50): e13265, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30557970

RESUMO

RATIONALE: Report a case of bilateral multiple retinal hamartomas (RAHs) in a patient with tuberous sclerosis complex (TSC) and introduced a new method (subthreshold micropulse laser photocoagulation) for the treatment of RAHs. PATIENT CONCERNS: A 20-year-old man with TSC complained of decreased vision and metamorphosia in both eyes for 2 months. At presentation, visual acuity (VA) was 20/32 in the right eye and 20/40 in the left eye. Fundus photographs, optical coherence tomography, fundus fluorescein angiography (FFA), and indocyanine green angiography indicated multiple RAHs in both eyes. DIAGNOSES: Bilateral retinal astrocytic hamartomas. INTERVENTIONS: In the right eye, 577 nm photocoagulation was adopted to treat the RAHs with obvious fluorescein leakage in FFA. The paramacular RAHs were treated by subthreshold micropulse mode to minimize the damage to macula. Photocoagulation therapy was administrated in the left eye after 1 dose of intravitreal ranibizumab treatment. OUTCOMES: After photocoagulation therapy (including subthreshold micropulse laser photocoagulation for the paramacular RAHs in both eyes), the VA improved to 20/25 OD and 20/32 OS with no recurrence of exudation. LESSONS: About 577 nm photocoagulation for the peripheral RAHs in combination with subthreshold micropulse laser photocoagulation for RAHs in the macular zone is a good option for multiple RAHs in patients with TSC.


Assuntos
Hamartoma/terapia , Fotocoagulação/normas , Retina/cirurgia , Esclerose Tuberosa/complicações , China , Hamartoma/etiologia , Humanos , Lasers Semicondutores/normas , Lasers Semicondutores/uso terapêutico , Fotocoagulação/métodos , Masculino , Retina/anormalidades , Retina/fisiopatologia , Doenças Retinianas/etiologia , Doenças Retinianas/fisiopatologia , Esclerose Tuberosa/terapia , Adulto Jovem
11.
Sci Rep ; 8(1): 16747, 2018 11 13.
Artigo em Inglês | MEDLINE | ID: mdl-30425292

RESUMO

Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by lesions that involve multiple organs. Interdisciplinary management at individual facilities needs to be coordinated to treat multiple organ systems. We hypothesized that the number of patients, opportunities for patients to undergo examinations, and opportunities for patients to be treated would increase after establishment of a TSC board (TB) in our hospital. From August 1979 to August 2017, 76 patients were studied. We established the TB in our hospital in 2014. We divided the patients into the pre-TB group and post-TB group. Patients consisted of 33 females and 43 males (mean age, 18.7 years; median age, 15 years). The follow-up period was 2 to 457 months (mean, 51.6 months; median, 24.5 months). Twenty-four patients were in the pre-TB group, and 52 were in the post-TB group. Regular follow-up (p < 0.001), younger age (p = 0.002), opportunities for patients to undergo examinations, opportunities for patients to receive neurological treatment (p < 0.001), and mammalian target of rapamycin (mTOR) inhibitor usage (p = 0.041) were significantly higher in the post-TB group. The radial relationship around the axis of TSC coordinators may be the key to interdisciplinary management of TSC.


Assuntos
Equipe de Assistência ao Paciente , Esclerose Tuberosa , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Diagnóstico Pré-Natal , Garantia da Qualidade dos Cuidados de Saúde , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/terapia , Adulto Jovem
12.
Am J Med Genet C Semin Med Genet ; 178(3): 355-364, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30253036

RESUMO

Healthcare transition from childhood to adulthood is required to ensure continuity of care of an increasing number of individuals with chronic conditions surviving into adulthood. The transition for patients with tuberous sclerosis complex (TSC) is complicated by the multisystemic nature of this condition, age-dependent manifestations, and high clinical variability and by the presence of intellectual disability in at least half of the individuals. In this article, we address the medical needs regarding each TSC-related manifestation in adulthood, and the services and support required. We review existing models of transition in different chronic conditions, discuss our experience in transitioning from the pediatric to the adult TSC Clinic at our Institution, and propose general rules to follow when establishing a transition program for TSC. Although a generalizable transition model for TSC is likely not feasible for all Institutions, a multidisciplinary TSC clinic is probably the best model, developed in accordance with the resources available and country-specific healthcare systems. Coordination of care and education of the adult team should be always sought regardless of the transition model.


Assuntos
Transição para Assistência do Adulto , Esclerose Tuberosa/psicologia , Esclerose Tuberosa/terapia , Adolescente , Adulto , Epilepsia , Humanos , Deficiência Intelectual , Itália , Nefropatias/etiologia , Pneumopatias/etiologia , Assistência ao Paciente/métodos , Transição para Assistência do Adulto/organização & administração , Esclerose Tuberosa/etiologia
13.
Am J Med Genet C Semin Med Genet ; 178(3): 291-298, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30230171

RESUMO

Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal-dominant genetic syndrome marked by development of hamartomatous lesions arising from dysfunction of the mammalian target of rapamycin (mTOR) pathway. Although TSC remains a heterogeneous clinical entity, the recent inclusion of genetic diagnostic criteria reflects advancement in our understanding of its underlying etiopathogenesis. Abnormal cellular growth, differentiation, and migration result in multisystem sequelae, with neurologic manifestations of TSC representing the primary cause of morbidity and mortality for the majority of individuals. Modern imaging techniques aid in the diagnosis of TSC and guide treatment strategies by revealing central nervous system findings. Cortical tubers are the namesake lesion of the disorder and occur in up to 90% of cases, often exerting significant epileptogenic potential. Subependymal nodules are found in 80% of patients as calcified tumors lining the ependyma of the lateral ventricles. In some cases, these nodules are thought to progress to subependymal giant cell astrocytomas and may present with obstructive hydrocephalus. Retinal astrocytic hamartomas are also common, present in 50% of patients. Surgery remains the treatment of choice for large or symptomatic lesions, though clinical trials have highlighted a potential role for mTOR pathway antagonism. A multidisciplinary approach is necessary for achieving optimal patient outcomes.


Assuntos
Encéfalo/diagnóstico por imagem , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/etiologia , Encéfalo/patologia , Epilepsia/etiologia , Hamartoma/diagnóstico , Hamartoma/etiologia , Humanos , Mutação , Transtornos do Neurodesenvolvimento/etiologia , Epitélio Pigmentado da Retina/patologia , Esclerose Tuberosa/terapia , Proteína 1 do Complexo Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa/genética
14.
J Neurosurg Pediatr ; 23(1): 92-97, 2018 09 28.
Artigo em Inglês | MEDLINE | ID: mdl-30265228

RESUMO

Cortical tubers associated with tuberous sclerosis complex (TSC) are potential epileptic foci that are often amenable to resective or ablative surgeries, and controlling seizures at a younger age may lead to improved functional outcomes. MRI-guided laser interstitial thermal therapy (MRgLITT) has become a popular minimally invasive alternative to traditional craniotomy. Benefits of MRgLITT include the ability to monitor the ablation in real time, a smaller incision, shorter hospital stay, reduced blood loss, and reduced postoperative pain. To place the laser probe for LITT, however, stereotaxy is required-which classically involves head fixation with cranial pins. This creates a relative minimum age limit of 2 years old because it demands a mature skull and fused cranial sutures. A novel technique is presented for the application of MRgLITT in a 6-month-old infant for the treatment of epilepsy associated with TSC. To the authors' knowledge this is the youngest patient treated with laser ablation. The authors used a frameless navigation technique with a miniframe tripod system and intraoperative reference points. This technique expands the application of MRgLITT to younger patients, which may lead to safer surgical interventions and improved outcomes for these children.


Assuntos
Epilepsia/terapia , Terapia a Laser/métodos , Imagem por Ressonância Magnética Intervencionista , Esclerose Tuberosa/terapia , Fatores Etários , Edema Encefálico/tratamento farmacológico , Craniotomia/métodos , Epilepsia/etiologia , Feminino , Humanos , Lactente , Complicações Pós-Operatórias/tratamento farmacológico , Técnicas Estereotáxicas/instrumentação , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico por imagem
15.
J Cosmet Dermatol ; 17(5): 762-765, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30123982

RESUMO

BACKGROUND: Tuberous sclerosis is an autosomal dominant genodermatosis characterized by nonmalignant hamartomas in multiple organs. Facial angiofibromas are most commonly located on the face and have the potential to cause disfigurement. Facial disfigurement negatively affects the quality of life of patients and their families, often leading to negative psychosocial outcomes. Nowadays there are no treatment guidelines for facial angiofibromas but due to the progressive nature of facial angiofibromas a safe technique offering good results is needed. OBJECTIVE AND RESULTS: We report the case of a 40-year-old female affected by tuberous sclerosis, whose facial angiofibromas were satisfactorily treated by rapamycin 0.05% ointment, and a combined laser therapy.


Assuntos
Angiofibroma/terapia , Antibióticos Antineoplásicos/uso terapêutico , Neoplasias Faciais/terapia , Lasers de Corante/uso terapêutico , Lasers de Gás/uso terapêutico , Lasers de Estado Sólido/uso terapêutico , Sirolimo/uso terapêutico , Esclerose Tuberosa/terapia , Adulto , Antibióticos Antineoplásicos/administração & dosagem , Terapia Combinada , Feminino , Humanos , Pomadas , Sirolimo/administração & dosagem , Resultado do Tratamento
16.
Int J Clin Oncol ; 23(6): 1134-1139, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30069798

RESUMO

BACKGROUND: The aim of this study was to evaluate the effects and the utility of second-line everolimus treatment for regrown renal angiomyolipoma (AML) with tuberous sclerosis complex (TSC) after transcatheter arterial embolization (TAE). METHODS: We investigated a total of 14 patients who underwent second-line everolimus treatment for TSC-AML that regrew after TAE, and assessed their effects and adverse events. Everolimus treatment was performed for AML with a maximum diameter of 4 cm. To determine the reduction ratio of AML, the volume of AML was measured using multislice helical computed tomography. Adverse events were evaluated according to CTCAE v4.0-JCOG. We further compared the treatment effect and adverse events with those in patients receiving first-line everolimus treatment. RESULTS: The AML volume decreased in all patients, with a ≥ 50% volume decrease in 57% (8 of 14) of the cases, and the mean reduction rate was 53%. We observed no significant difference in the mean reduction rate of AML between second-line everolimus treatment for regrown TSC-AML after TAE and first-line everolimus treatment for TSC-AML. The adverse events were mild and consistent with those reported in our previous study. CONCLUSION: Although further studies are needed, everolimus appears to be effective as second-line treatment for TSC-AML that regrew after TAE and a beneficial treatment option for TSC-AML.


Assuntos
Angiomiolipoma/tratamento farmacológico , Antineoplásicos/uso terapêutico , Cateteres/efeitos adversos , Embolização Terapêutica/efeitos adversos , Everolimo/uso terapêutico , Neoplasias Renais/tratamento farmacológico , Esclerose Tuberosa/terapia , Adolescente , Adulto , Angiomiolipoma/etiologia , Angiomiolipoma/patologia , Feminino , Humanos , Neoplasias Renais/etiologia , Neoplasias Renais/patologia , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Esclerose Tuberosa/complicações , Adulto Jovem
17.
J Neurol Sci ; 391: 104-108, 2018 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-30103955

RESUMO

INTRODUCTION: Tuberous sclerosis complex (TSC) is a rare congenital disorder often associated with epilepsy. However, real-world treatment patterns for epilepsy in patients with TSC are not yet well categorized. METHODS: This study included patients with TSC and epilepsy from fifteen clinics in the United States and one in Belgium who were enrolled in the TSC Natural History Database (2006-2014). Patient demographics and epilepsy treatment patterns, including the use of anti-epileptic drugs (AEDs), epilepsy surgeries, and dietary therapies were assessed. RESULTS: Of the 1328 patients with TSC in the database, 1110 (83.6%) were diagnosed with epilepsy. The median age of epilepsy diagnosis was 0.7 years. Of those who received treatment for epilepsy (92.3%), 99.5% were prescribed AEDs, 25.3% underwent surgery, 7.9% were prescribed special diets, and 1% were prescribed mammalian target of rapamycin (mTOR) inhibitors. Of the patients receiving AEDs, over half (64.5%) used ≥3 different AEDs, and 22.5% underwent surgical treatment following AED initiation. Of the patients who underwent surgery, 35.1% had subsequent surgery. CONCLUSION: The use of multiple AEDs and surgical interventions may indicate a need for new therapies to reduce the treatment burden among patients with TSC and epilepsy.


Assuntos
Epilepsia/complicações , Epilepsia/terapia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/terapia , Adolescente , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Dietoterapia/tendências , Epilepsia/epidemiologia , Epilepsia/genética , Feminino , Seguimentos , Humanos , Masculino , Procedimentos Neurocirúrgicos/tendências , Estudos Retrospectivos , Resultado do Tratamento , Esclerose Tuberosa/epidemiologia , Esclerose Tuberosa/genética , Adulto Jovem
18.
World Neurosurg ; 118: e263-e268, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29966782

RESUMO

BACKGROUND: Subependymal giant cell astrocytoma (SEGA) is a rare, benign neoplasm predominantly associated with tuberous sclerosis complex. Clinical outcomes have largely been conveyed via small- and medium-sized case series. METHODS: With the Surveillance, Epidemiology, and End Results Program (SEER)-18 registry database, information from all patients diagnosed with SEGA from 2004 to 2013 was obtained (age, sex, race, marital status, tumor size, tumor location, occurrence of surgery, receipt of radiation, and follow-up data). Age-adjusted incidence rates and overall survival (OS) were determined. Cox proportional hazards model was used for both univariate and multivariate analyses. RESULTS: The overall incidence of SEGA within the SEER-18 database is 0.027 per 100,000 person-years (95% confidence interval, 0.024-0.031). A total of 226 cases were identified. For OS, univariate analysis revealed age younger than 18 years (hazard ratio [HR], 0.214; P = 0.004) and occurrence of surgery (HR, 0.328; P = 0.039) were significant positive prognostic factors. Sex, marital status, race, tumor size, tumor location, and receipt of radiation did not exhibit significant relationships. Interestingly, subanalysis for extent of resection to gross total resection did not show benefit. Multivariate analysis revealed that both age younger than 18 years (HR, 0.193; P = 0.002) and occurrence of surgery (HR, 0.286; P = 0.021) remained significant. CONCLUSIONS: Based on our analysis, younger age and occurrence of surgery are significant independent factors associated with better OS. There was no support for radiation.


Assuntos
Astrocitoma/epidemiologia , Astrocitoma/terapia , Vigilância da População , Programa de SEER/tendências , Esclerose Tuberosa/epidemiologia , Esclerose Tuberosa/terapia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Vigilância da População/métodos , Sistema de Registros , Adulto Jovem
19.
An Bras Dermatol ; 93(3): 323-331, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29924239

RESUMO

Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Due to the wide phenotypic variability, the disease is often not recognized. Tuberous sclerosis complex affects one in 10,000 newborns and most patients are diagnosed during the first 15 months of life. The diagnostic criteria for tuberous sclerosis were reviewed in 2012, at the second International Tuberous Sclerosis Complex Consensus Conference. The diagnosis is based on genetic criteria, by the identification of inactivating pathogenic mutation of tumor suppressor genes TSC1 and TSC2, and clinical criteria, including cutaneous, renal, pulmonary, cardiac and neurological manifestations. The treatment of tuberous sclerosis complex consists, mainly, in management of the symptoms caused by hamartomas and in prevention of organ failure. Multidisciplinary approach is recommended, in order to obtain better clinical outcomes.


Assuntos
Hamartoma/diagnóstico , Esclerose Tuberosa/diagnóstico , Hamartoma/genética , Hamartoma/terapia , Humanos , Imunossupressores/uso terapêutico , Mutação , Sirolimo/uso terapêutico , Esclerose Tuberosa/genética , Esclerose Tuberosa/terapia
20.
An. bras. dermatol ; 93(3): 323-331, May-June 2018. tab, graf
Artigo em Inglês | LILACS | ID: biblio-949890

RESUMO

Abstract: Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Due to the wide phenotypic variability, the disease is often not recognized. Tuberous sclerosis complex affects one in 10,000 newborns and most patients are diagnosed during the first 15 months of life. The diagnostic criteria for tuberous sclerosis were reviewed in 2012, at the second International Tuberous Sclerosis Complex Consensus Conference. The diagnosis is based on genetic criteria, by the identification of inactivating pathogenic mutation of tumor suppressor genes TSC1 and TSC2, and clinical criteria, including cutaneous, renal, pulmonary, cardiac and neurological manifestations. The treatment of tuberous sclerosis complex consists, mainly, in management of the symptoms caused by hamartomas and in prevention of organ failure. Multidisciplinary approach is recommended, in order to obtain better clinical outcomes.


Assuntos
Humanos , Esclerose Tuberosa/diagnóstico , Hamartoma/diagnóstico , Esclerose Tuberosa/genética , Esclerose Tuberosa/terapia , Sirolimo/uso terapêutico , Hamartoma/genética , Hamartoma/terapia , Imunossupressores/uso terapêutico , Mutação
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