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1.
Front Immunol ; 15: 1375497, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38585263

RESUMO

Neurological immune-related adverse events (irAEs) due to immune checkpoint inhibitors (ICI) are rare complications of immunotherapy, particularly dreadful for patients and clinical teams. Indeed, neurological irAEs are potentially severe and their diagnosis require prompt recognition and treatment. Additionally, the spectrum of neurological irAEs is broad, affecting either neuromuscular junction, peripheral or central nervous system. Here, we described the case of a 55-year man with metastatic melanoma, facing a brutal right peripheral cerebral palsy after his third ipilimumab/nivolumab infusion. After the case presentation, we reviewed the literature about this rare complication of immunotherapy, and described its diagnosis work-up and clinical management.


Assuntos
Paralisia Facial , Melanoma , Masculino , Humanos , Nivolumabe/uso terapêutico , Inibidores de Checkpoint Imunológico/efeitos adversos , Ipilimumab/uso terapêutico , Paralisia Facial/induzido quimicamente , Paralisia Facial/tratamento farmacológico
2.
Pediatr Hematol Oncol ; 41(1): 30-40, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37599628

RESUMO

Solid tumors or predisposition syndromes are increasingly suspected before birth. However optimal management and outcomes remain unclear. We have performed a ten-year retrospective study of oncologic indications of prenatal diagnosis in public hospitals in Marseille. Data were obtained from prenatal diagnosis center and hospital imaging databases and pediatric oncology department files. Fifty-one cases were identified, 40 with mass: adrenal 17, sacrococcygeal 9, cardiac 7, abdominal 4, ovarian 1, cervical 2; 8 with developmental abnormalities (omphalocele 4, macroglossia 4), 3 WITH familial predisposition syndromes (familial rhabdoid 2, Li-Fraumeni 1). Median detection time was 30 week. Termination of pregnancy was decided for 9 fetuses (4 cardiac lesions and suspected tuberous sclerosis, 2 sacrococcygeal tumors, 1 Beckwith-Wiedemann Syndrome, 2 SMARCB1 mutations. Preterm birth occurred in 8 cases. Eleven newborns (26,1%) required intensive care (8 for mechanical complications). Of of 17 adrenal mass ES, 4 disappeared before birth and 5 before one year. Seventeen newborns underwent surgery: 13 masses (teratoma 7, myelomeningocele 2, cystic nephroma 1, neuroblastoma 2), 4 omphaloceles, one biopsy. Surgery performed after one year for incomplete regression identified 1 neuroblastoma, 2 bronchogenic cysts and 2 nonmalignant masses. Three newborns received chemotherapy. Except one patient with BWS who died of obstructive apnea, all children are alive disease free with a median follow-up of 60 months [9-131 months]. Twelve have sequelae. Various solid tumors and cancer predisposition syndromes can be detected before birth. A multidisciplinary collaboration is strongly recommended for optimal management before and after birth.


Assuntos
Neuroblastoma , Oncologistas , Nascimento Prematuro , Gravidez , Feminino , Criança , Recém-Nascido , Humanos , Estudos Retrospectivos , Ultrassonografia Pré-Natal , Diagnóstico Pré-Natal
5.
J Korean Neurosurg Soc ; 65(5): 652-664, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35574584

RESUMO

The Kernohan-Woltman notch phenomenon (KWNP) refers to an intracranial lesion causing massive side-to-side mass effect which leads to compression of the contralateral cerebral peduncle against the free edge of the cerebellar tentorium. Diagnosis is based on "paradoxical" motor deficit ipsilateral to the lesion associated with radiologic evidence of damage to the contralateral cerebral peduncle. To date, there is scarce evidence regarding KWNP associated neuroimaging patterns and motor function prognostic factors. A systematic review was conducted on Medline database from inception to July 2021 looking for English-language articles concerning KWNP, in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The research yielded 45 articles for a total of 51 patients. The mean age was 40.7 years-old and the male/female sex ratio was 2/1. 63% of the patients (32/51) suffered from head trauma with a majority of acute subdural hematomas (57%, 29/51). 57% (29/51) of the patients were in the coma upon admission and 47% (24/51) presented pupil anomalies. KWNP presented the neuroimaging features of compression ischemic stroke located in the contralateral cerebral peduncle, with edema in the surrounding structures and sometimes compression stroke of the cerebral arteries passing nearby. 45% of the patients (23/51) presented a good motor functional outcome; nevertheless, no predisposing factor was identified. A Glasgow coma scale (GCS) of more than 3 showed a trend (p=0.1065) toward a better motor functional outcome. The KWNP is a regional compression syndrome oftentimes caused by sudden and massive uncal herniation and leading to contralateral cerebral peduncle ischemia. Even though patients suffering from KWNP usually present a good overall recovery, patients with a GCS of 3 may present a worse motor functional outcome. In order to better understand this syndrome, future studies will have to focus on more personalized criteria such as individual variation of tentorial notch width.

6.
Brain Imaging Behav ; 16(2): 878-887, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34661873

RESUMO

This study's objective was to correlate the abnormalities in brain MRIs performed at corrected-term age for minor or moderate neurocognitive disorders in children school-age born extremely premature (EPT) and without serious sequelae such as autism, cerebral palsy, mental impairment. Data were issued from a cross-sectional multicenter study (GP-Qol study, number NCT01675726). Clinical examination and psychometric assessments were performed when the children were between 7 and 10 years old during a day-long evaluation. Term-equivalent age brain MRIs on EPT were analyzed with a standardized scoring system. There were 114 children included in the study. The mean age at the time of evaluation, was 8.47 years old (± 0.70). 59% of children with at least one cognitive impairment and 53% who had a dysexecutive disorder. Only ten EPT (8.7%) presented moderate to severe white and grey matter abnormalities. These moderate to severe grey matter abnormalities were associated with at least two abnormal executive functions [OR 3.08 (95% CI 1.04-8.79), p = 0.04] and language delay [OR 3.25 (95% CI 1.03-9.80), p = 0.04]. These results remained significant in the multivariate analysis. Moderate to severe ventricular dilatation abnormalities (15%, n = 17) were associated with ideomotor dyspraxia [OR 7.49 (95% CI 1.48-35.95), p = 0.02] and remained significant in multivariate analysis [OR 11.2 (95% CI 1.45-131.4), p = 0.02]. Biparietal corrected diameters were moderate abnormal in 20% of cases (n = 23) and were associated to visuo spatial integration delay [OR 4.13 (95% CI 1.23-13.63), p = 0.02]. Cerebral MRI at term-equivalent age with scoring system analysis can provide information on long-term neuropsychological outcomes at school-age in EPTs children having no severe disability.


Assuntos
Lactente Extremamente Prematuro , Imageamento por Ressonância Magnética , Encéfalo/diagnóstico por imagem , Criança , Estudos Transversais , Função Executiva , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética/métodos
9.
Indian Pediatr ; 54(6): 495-497, 2017 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-28667723

RESUMO

BACKGROUND: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is an autosomal recessive disorder characterized by connective tissue dysplasia. CASE CHARACTERISTICS: We report two children with perinatal stroke; accompanied by neonatal joint hypermobility, hypotonia; and early development of kyphoscoliosis. OUTCOME: Molecular analysis revealed a PLOD1 gene mutation. Our definitive diagnosis was a EDS VIA. MESSAGE: Prenatal brain stroke is a rare clinical feature of EDSVIA.


Assuntos
Síndrome de Ehlers-Danlos , Cifose , Complicações Cardiovasculares na Gravidez , Acidente Vascular Cerebral , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Pré-Escolar , Feminino , Humanos , Imageamento por Ressonância Magnética , Gravidez
11.
J Minim Access Surg ; 11(2): 129-33, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25883453

RESUMO

UNLABELLED: In adults, congenital pulmonary malformations are candidates for surgery due to symptoms. A pre-natal diagnosis is simple and effective, and allows an early thoracoscopic surgical treatment. A retrospective study was performed to assess management in two different populations of adults and children to define the best strategy. SUBJECTS AND METHODS: Pulmonary malformations followed at the University Hospital from 2000 to 2012 were reviewed. Clinical history, malformation site, duration of hospitalisation, complications and pathology examinations were collected. RESULTS: A total of 52 cases (33 children, 19 adults) were identified. In children, 28 asymptomatic cases were diagnosed pre-natally and 5 during the neonatal period due to infections. Surgery was performed on the children between the ages of 2 and 6 months. Nineteen adults underwent surgery, 16 because of symptoms and 3 adults for anomalies mimicking tumours. The mean age within the adult group was 42.5 years. In children, there was one thoracotomy and 32 thoracoscopies, with 7 conversions for difficult exposure, dissection of vascular pedicles, bleeding or bronchial injury. In the adults, there were 15 thoracotomies and 4 thoracoscopies, with one conversion. Post-operative complications in the adults were twice as frequent than in children. The mean time of the children's hospitalisation was 7.75 days versus 7.16 days for the adults. Pathological examinations showed in the children: 7 sequestrations, 18 congenital cystic pulmonary malformations (CPAM), 8 CPAM associated sequestrations; in adults: 16 sequestrations, 3 intra-pulmonary cysts. CONCLUSION: Early thoracoscopic surgery allows pulmonary parenchyma conservation with pulmonary development, reduces respiratory and infectious complications, eliminates a false positive cancer diagnosis later in life and decreases risks of thoracic parietal deformation.

12.
Urology ; 84(1): 185-90, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24745800

RESUMO

OBJECTIVE: To describe the diagnostic criteria and outcome of fetal megacystis according to the gestational age at diagnosis. METHODS: A 7-year retrospective study was carried out from 2004 to 2011, including cases of megacystis referred to 2 prenatal fetal medicine units. The following data were collected and analyzed: maternal age, term at diagnosis (gestational weeks), ultrasonographic and magnetic resonance imaging data, karyotype, decision of the multidisciplinary prenatal team, fetopathology in cases of termination of pregnancy or fetal death, final diagnosis at birth after ultrasonography and voiding cystourethrography, and medical and surgical follow-up. RESULTS: Of the 69 fetuses included in this study, 82.6% were males; 26 were diagnosed during the first trimester, 21 during the second, and 22 during the third. During the first trimester, the main etiologies were urethral occlusions and prune-belly syndrome with poor fetal prognosis. Nineteen pregnancies (69%) were terminated for medical reasons including the association with other malformations, poor evolution, or miscarriage. Only 4 children were born alive. The main etiologies of megacystis discovered during the second and third trimesters were vesicoureteral reflux and urethral occlusion. Twenty of 22 fetuses (91%) were born alive when the fetal megacystis was discovered after 27 weeks of gestation. CONCLUSION: Antenatal discovery of megacystis is a complex and challenging prognostic situation. The prognosis depends on the gestational age at discovery. Megacystis is not always associated with obstruction. In a newborn with megacystis, bladder outlet obstruction has to be excluded. Optimal counseling of the involved parents requires a multidisciplinary approach.


Assuntos
Duodeno/anormalidades , Doenças Fetais/diagnóstico , Doenças Fetais/etiologia , Bexiga Urinária/anormalidades , Feminino , Idade Gestacional , Humanos , Masculino , Gravidez , Prognóstico , Estudos Retrospectivos
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