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1.
Paediatr Drugs ; 22(1): 73-84, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31912454

RESUMO

Tuberous sclerosis complex (TSC) is a genetic neurocutaneous disorder with epilepsy as a common and early presenting symptom. The neurological phenotype, however, is variable and unpredictable. Early and refractory seizures, infantile spasms in particular, are associated with a poor neurological outcome. Preliminary data suggests early and aggressive seizure control may mitigate the detrimental neurodevelopmental effects of epilepsy. For infantile spasms, vigabatrin is the first line of treatment, and steroids and classic antiepileptic drugs (AEDs) are suitable for second line. Based on retrospective data, vigabatrin should be considered for other indications, especially in infants with focal seizures, as this may prevent infantile spasms, but also in children and adults with epileptic spasms and tonic seizures. Otherwise, for most seizure types, treatment is similar to that for patients without TSC, including the use of novel AEDs, although limited data are available. Three major developments are changing the field of epilepsy management in TSC. First, final recommendations on preventive treatment with vigabatrin will result from two multicenter trials in the US (PREVeNT, clinicaltrials.gov #NCT02849457) and Europe (EPISTOP, clinicaltrials.gov #NCT02098759). Second, treatment with everolimus, an inhibitor of the mechanistic target of rapamycin (mTOR), reduced seizures when compared to placebo. Further, mTOR inhibitors may have an overall disease-modifying effect. Third, the role of cannabidiol in the treatment of refractory seizures in TSC is yet to be established. With treatment recommendations in TSC, we keep an eye on the prize for the broader field of pediatric epilepsy: the lessons learned from TSC are likely applicable to other epileptic encephalopathies.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Esclerose Tuberosa/tratamento farmacológico , Adulto , Anticonvulsivantes/farmacologia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Esclerose Tuberosa/complicações , Adulto Jovem
2.
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.
Zhonghua Er Ke Za Zhi ; 57(11): 852-856, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665839

RESUMO

Objective: To investigate the efficacy and safety of rapamycin in children with tuberous sclerosis complex (TSC) associated renal disease. Methods: A prospective self-control study was conducted. The clinical data of 92 children diagnosed with tuberous sclerosis complex associated kidney disease at the People's Liberation Army General Hospital from January 2011 to January 2019 were collected. The long-term rapamycin treatment for all patients initiated at 1 mg/(m(2)·d), which was gradually adjusted to reach a blood concentration of 5-10 µg/L. The changes of the maximum diameter of renal lesions in children after rapamycin treatment were observed and analyzed with Wilcoxon test. Results: Ninety-two children, including 52 males and 40 females, who met the criteria were analyzed. Sixty patients had only renal angiomyolipoma(RAML), while 24 patients had only multiple renal cysts(MRC), and 8 patients had both lesions. The age of TSC diagnosis was 16.0 (7.0, 42.0) months, and the age of initial treatment with rapamycin was 63.5 (21.0, 103.0) months. The follow-up lasted for 12.0 (4.0, 23.0) months. Sequencing of TSC1 and TSC2 genes was performed in 54 children with TSC, including 3 patients (6%) with mutations in TSC1 gene and 51 patients (94%) with mutations in TSC2 gene. The maximum RAML diameter before treatment was 7.0 (4.0, 9.0) mm. The best effect reached at 3 months of treatment, with the diameter of 4.0 (0,7.0) mm. The maximum diameters at 6 months, 1 year and 1-2 years were 5.0 (0,9.8) mm, 5.0 (1.5, 8.5) mm, 5.5 (3.0, 9.0) mm, respectively, and were significantly different from the baseline (Z=-2.404,-2.350,-2.750,P=0.016,0.019,0.006, respectively). The maximum diameter after 2-3 years, and ≥3 years were 5.0 (3.9,7.0) mm and 6.0 (1.0, 11.0) mm, without significant difference from the baseline (Z=-0.856,-0.102,P=0.393,0.919, respectively).The maximum diameters of MRC after 3 months, 6 months, 1 year,1-2 years, 2-3 years, and ≥3 years were 11.0 (5.0, 14.0) mm,3.0 (0.0,11.0) mm,5.0 (0,21.0) mm,0 (0,14.0) mm,0 (0,10.0) mm, and 0 (0,18.3) mm, respectively, but were not significantly different rom the baseline (7.0 (5.0, 15.7) mm)(Z=-0.944,-1.214,-1.035,-1.896,-1.603,-1.214,P=0.345,0.225,0.301,0.058,0.109,0.225, respectively).Twenty-nine patients (32%) had oral ulcers during the entire treatment period, and no serious adverse reactions were observed. Conclusions: Rapamycin could decrease the diameter of TSC-related RAML, but could not inhibit the growth of cysts. It is well tolerated in the treatment of renal diseases associated with tuberous sclerosis complex.


Assuntos
Angiomiolipoma/tratamento farmacológico , Antineoplásicos/uso terapêutico , Neoplasias Renais/tratamento farmacológico , Sirolimo/uso terapêutico , Esclerose Tuberosa/complicações , Angiomiolipoma/etiologia , Criança , China , Feminino , Humanos , Recém-Nascido , Neoplasias Renais/etiologia , Masculino , Estudos Prospectivos , Sirolimo/administração & dosagem
4.
Ophthalmic Surg Lasers Imaging Retina ; 50(11): 737-739, 2019 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-31755974

RESUMO

Retinal astrocytic hamartoma is the most common ocular manifestation in tuberous sclerosis. Although astrocytic hamartomas are usually benign and stationary, there are occasionally circumstances when they are considered to be active. In this study, the authors report a case of self-limited visual impairment due to astrocytic hamartomas. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:737-739.].


Assuntos
Neoplasias Oculares/complicações , Hamartoma/complicações , Edema Macular/patologia , Descolamento Retiniano/patologia , Líquido Sub-Retiniano/metabolismo , Esclerose Tuberosa/complicações , Adolescente , Humanos , Masculino , Remissão Espontânea
5.
Pol Merkur Lekarski ; 47(278): 52-59, 2019 Aug 30.
Artigo em Polonês | MEDLINE | ID: mdl-31473752

RESUMO

Tuberous sclerosis complex (TSC) is a genetic disease that leads to formation of tumors i.e. in brain kidneys, heart, lungs, and skin. AIM: The aim of the study was to summarize center's experience in the first year of program of nephrologic follow-up in patients with TSC. MATERIALS AND METHODS: During 12 months 30 children with TSC (14 boys and 16 girls aged from 3 months to 17 years 11 months, mean 7.57±5.02 years) were hospitalized. Following parameters were evaluated: genetic and biochemical tests, blood pressure in ambulatory blood pressure monitoring (ABPM), kidney lesions in ultrasonography (30 patients) and in magnetic resonance (14 patients). RESULTS: Genetic tests were performed in 6 children - in 5 TSC2 mutation was found, in one boy with TSC and numerous renal cysts only PKD1 mutation was revealed. Mean GFR was 130.81±23.23 mL/ min/1.73 m2. Four children (13.3%) had arterial hypertension. Renal lesions were found in 28 (93.3%) children: 18 patients had angiomyolipomas (AML) (mean diameter 15.4±12.5, max 38 mm), 23 patients had renal cysts (mean diameter 7.6±7.0, max 30 mm); 13 patients had AMLs and cysts. A dysplastic lesion (39x26x15 mm) in right kidney was found in one girl. Children with AML were older than remaining patients (10.08±4.55 vs. 4.25±3.50 [years], p<0.001). Children with cysts were characterized by higher systolic (p=0.017), diastolic (p=0.027) and mean (p=0.014) arterial pressure, and mean arterial pressure Z-score (p=0.025) in ABPM. Maximal kidney cyst diameter correlated positively with systolic, diastolic, mean arterial pressure, mean arterial pressure Z-score, and diastolic blood pressure load in ABPM (r = 0.61-0.75, p = 0.033-0.005). Two children with numerous AML with diameter >30 mm were treated with sirolimus. CONCLUSIONS: Because of common focal lesions in kidneys children with TSC should be kept under regular nephrologic follow-up. Presence of large renal cysts may predispose children with TSC to arterial hypertension.


Assuntos
Angiomiolipoma , Nefropatias , Esclerose Tuberosa , Adolescente , Angiomiolipoma/etiologia , Monitorização Ambulatorial da Pressão Arterial , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Nefropatias/etiologia , Masculino , Esclerose Tuberosa/complicações
6.
BMJ Case Rep ; 12(8)2019 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-31383671

RESUMO

Tuberous Sclerosis Complex (TSC) is easily discernible by a myriad of manifestations, most notably dermatological. It is associated with well known and recognised intra-abdominal tumours like angiomyolipoma of the kidney. However, rarer tumours like pancreatic neuroendocrine tumours can occur in the setting of TSC. A high index of suspicion is necessary to identify and treat these lesions early in their natural course. Early identification augurs well with complete surgical excision and excellent survival.


Assuntos
Tumores Neuroendócrinos/congênito , Neoplasias Pancreáticas/congênito , Esclerose Tuberosa/complicações , Adolescente , Feminino , Humanos
8.
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
10.
Neurology ; 93(2): e200-e209, 2019 07 09.
Artigo em Inglês | MEDLINE | ID: mdl-31217257

RESUMO

OBJECTIVE: To investigate whether mammalian target of rapamycin inhibitor everolimus can improve intellectual disability, autism, and other neuropsychological deficits in children with tuberous sclerosis complex (TSC). METHODS: In this 12-month, randomized, double-blind, placebo-controlled trial, we attempted to enroll 60 children with TSC and IQ <80, learning disability, special schooling, or autism, aged 4-17 years, without intractable seizures to be assigned to receive everolimus or placebo. Everolimus was titrated to blood trough levels of 5-10 ng/mL. Primary outcome was full-scale IQ; secondary outcomes included autism, neuropsychological functioning, and behavioral problems. RESULTS: Thirty-two children with TSC were randomized. Intention-to-treat analysis showed no benefit of everolimus on full-scale IQ (treatment effect -5.6 IQ points, 95% confidence interval -12.3 to 1.0). No effect was found on secondary outcomes, including autism and neuropsychological functioning, and questionnaires examining behavioral problems, social functioning, communication skills, executive functioning, sleep, quality of life, and sensory processing. All patients had adverse events. Two patients on everolimus and 2 patients on placebo discontinued treatment due to adverse events. CONCLUSIONS: Everolimus did not improve cognitive functioning, autism, or neuropsychological deficits in children with TSC. The use of everolimus in children with TSC with the aim of improving cognitive function and behavior should not be encouraged in this age group. CLINICALTRIALSGOV IDENTIFIER: NCT01730209. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that for children with TSC, everolimus does not improve intellectual disability, autism, behavioral problems, or other neuropsychological deficits.


Assuntos
Transtorno Autístico/tratamento farmacológico , Everolimo/uso terapêutico , Imunossupressores/uso terapêutico , Deficiência Intelectual/tratamento farmacológico , Serina-Treonina Quinases TOR/antagonistas & inibidores , Esclerose Tuberosa/tratamento farmacológico , Adolescente , Transtorno Autístico/etiologia , Transtorno Autístico/psicologia , Criança , Comunicação , Método Duplo-Cego , Função Executiva , Feminino , Humanos , Deficiência Intelectual/etiologia , Testes de Inteligência , Masculino , Comportamento Problema , Qualidade de Vida , Sono , Comportamento Social , Esclerose Tuberosa/complicações , Esclerose Tuberosa/psicologia
11.
BMJ Case Rep ; 12(6)2019 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-31203206

RESUMO

Second-generation antipsychotics are used to treat a variety of psychiatric symptoms and illnesses as well as the behavioural aspects of various neurodevelopmental disorders. However, there is reluctance in using second-generation long-acting injectable antipsychotics in child psychiatry services. We present a case of a 12-year-old child whose presentation and medication regime warranted the use of aripiprazole long-acting injection against a backdrop of potential CYP P450 enzyme interactions as a consequence of polypharmacy. The case also describes the difficulties encountered working across different health sectors and agencies and highlights the ongoing need for skills-based Continuous Professional Development for Child and Adolescent Mental Health Services-based nursing staff.


Assuntos
Antipsicóticos/administração & dosagem , Aripiprazol/administração & dosagem , Inibidores das Enzimas do Citocromo P-450/efeitos adversos , Epilepsia/tratamento farmacológico , Esclerose Tuberosa/tratamento farmacológico , Criança , Sistema Enzimático do Citocromo P-450/efeitos dos fármacos , Preparações de Ação Retardada , Epilepsia/etiologia , Humanos , Injeções , Polimedicação , Cuidado Transicional , Esclerose Tuberosa/complicações
13.
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
14.
Int J Surg Pathol ; 27(7): 804-811, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31142207

RESUMO

Eosinophilic solid and cystic renal cell carcinoma (ESCRCC) is a recently described distinct renal neoplasm known to occur almost exclusively in female patients with or without tuberous sclerosis complex (TSC). We report a case of ESCRCC with 2 synchronous angiomyolipomas, including 1 angiomyolipoma with epithelial cysts (AMLEC), a rare cystic variant of AML that typically arises sporadically in the absence of TSC, in a 46-year-old woman with TSC. Besides additional copy number alterations identified in ESCRCC via molecular karyotyping, we also report a unique histologic feature of TSC-associated ESCRCC previously not described in detail, with formation of semicircular multinucleated neoplastic giant cells engulfing an additional intact neoplastic cell, simulating emperipolesis. To the best of our knowledge, this is the first reported case of ESCRCC with concurrent AMLEC in a patient with TSC, confirmed through additional genetic testing showing a germline heterozygous mutation in TSC1. Awareness of ESCRCC helps avoid the pitfall of a diagnosis of unclassified renal cell carcinoma, a typically much more aggressive tumor.


Assuntos
Angiomiolipoma/diagnóstico , Carcinoma de Células Renais/diagnóstico , Neoplasias Renais/diagnóstico , Rim/patologia , Neoplasias Primárias Múltiplas/diagnóstico , Esclerose Tuberosa/complicações , Angiomiolipoma/genética , Angiomiolipoma/cirurgia , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/cirurgia , Variações do Número de Cópias de DNA , Diagnóstico Diferencial , Feminino , Testes Genéticos , Mutação em Linhagem Germinativa , Células Gigantes/patologia , Heterozigoto , Humanos , Cariotipagem , Rim/citologia , Rim/cirurgia , Neoplasias Renais/genética , Neoplasias Renais/cirurgia , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/genética , Neoplasias Primárias Múltiplas/cirurgia , Nefrectomia , Resultado do Tratamento , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Proteína 1 do Complexo Esclerose Tuberosa/genética
15.
Saudi J Kidney Dis Transpl ; 30(2): 545-548, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31031395

RESUMO

We present a case of a 32-year-old female who had been diagnosed tuberous sclerosis complex (TSC) two years ago. In view of serious hemorrhagic complication risk of the selective embolization, we commenced her on oral rapamycin therapy for regression of angiomyolipomas (AMLs). On the 1st year of rapamycin treatment, bilateral renal AMLs were regressed and bilateral selective embolization of the AML was performed after the 1st year of treatment. Rapamycin therapy may regress renal lesions in TSC disease. Therefore, it may increase surgical intervention.


Assuntos
Angiomiolipoma/tratamento farmacológico , Antibióticos Antineoplásicos/uso terapêutico , Neoplasias Renais/tratamento farmacológico , Sirolimo/uso terapêutico , Esclerose Tuberosa/tratamento farmacológico , Administração Oral , Adulto , Angiomiolipoma/complicações , Antibióticos Antineoplásicos/administração & dosagem , Feminino , Humanos , Neoplasias Renais/complicações , Sirolimo/administração & dosagem , Esclerose Tuberosa/complicações
17.
Pediatr Dermatol ; 36(3): 408-410, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30828845

RESUMO

We report here our experience on the use of dermoscopy for the detection of subungual red comets, which are sometimes present in the nails of patients affected by tuberous sclerosis complex. Dermoscopy allowed us to visualize, with better resolution than the naked eye, very tortuous capillaries surrounded by a whitish halo and close parallel binary tortuous capillaries. In some cases, subungual red comets are associated with the presence of periungual or subungual fibromas, but their exact pathogenesis remains unknown.


Assuntos
Dermoscopia , Doenças da Unha/etiologia , Doenças da Unha/patologia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/patologia , Adolescente , Criança , Feminino , Humanos , Masculino , Estudos Retrospectivos
19.
Orphanet J Rare Dis ; 14(1): 72, 2019 03 29.
Artigo em Inglês | MEDLINE | ID: mdl-30922357

RESUMO

Endostatin is a naturally occurring collagen fragment with anti-angiogenic properties. We investigated the association between serum endostatin levels and DLCO in a cohort of patients with lymphangioleiomyomatosis (LAM). Associations of endostatin levels to clinical features of LAM were explored using logistic regression models. Endostatin levels were associated with DLCO and were higher in subjects with TSC-associated LAM compared to sporadic LAM. These data suggest that endostatin could be a predictive biomarker of decline in DLCO and that germline mutational inactivation of the TSC1 or TSC2 gene is associated with higher endostatin levels. These findings could offer novel insights into the pathogenesis of LAM.


Assuntos
Biomarcadores/sangue , Endostatinas/sangue , Linfangioleiomiomatose/sangue , Linfangioleiomiomatose/fisiopatologia , Adulto , Estudos de Coortes , Endostatinas/genética , Feminino , Inativação Gênica , Mutação em Linhagem Germinativa , Humanos , Linfangioleiomiomatose/complicações , Linfangioleiomiomatose/genética , Pessoa de Meia-Idade , Esclerose Tuberosa/complicações , Proteína 1 do Complexo Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa/genética
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