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1.
Surg Neurol Int ; 11: 26, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32123614

RESUMEN

BACKGROUND: Subependymal giant cell astrocytomas (SEGAs) appear approximately in 10% of patients with tuberous sclerosis. These tumors are most commonly diagnosed in childhood and adolescence, with in utero diagnosed SEGAs being an extremely rare entity. CASE DESCRIPTION: We present the case of a congenital SEGA detected in an antenatal ultrasound and further investigated with fetal magnetic resonance imaging (MRI) scans at 22 and 32 weeks of gestational age. At 9 days of age, the child underwent craniotomy and partial excision of the tumor, followed by a second more extensive operation 13 days later. The patient was subsequently administered mammalian target of rapamycin inhibitor (everolimus). CONCLUSION: In the latest follow-up MRI, at the age of two, the SEGA remained unchanged. Management of these tumors in neonates is challenging, mainly due to high morbidity and mortality of surgical treatment in these ages.

2.
Surg Neurol Int ; 10: 75, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31528413

RESUMEN

Background: Hemangiopericytoma and solitary fibrous tumor (HPC/SFT) are considered to be one category according to the WHO 2016 classification of central nervous system tumors. HPC/SFT are subdivided into infantile (congenital) and adult type. Both are extremely rare entities, with little knowledge about etiology, prognosis, and optimal therapeutic strategy. Case Description: A 10-day-old girl was referred to our neurosurgical department due to hypotonia, palsy of the right oculomotor nerve, and prominent frontal fontanel. Imaging studies revealed a large occupying mass in the right middle cerebral fossa and the suprasellar cisterns. Only a subtotal resection of the tumor was possible, and postoperatively, she underwent chemotherapy (CHx). After a 3-year follow-up, the girl has minimum neurologic signs and receives no medications, and she can walk when she is supported. Conclusion: Congenital HPC/SFT is considered to have a benign behavior with a good prognosis. Treatment with gross total resection, when it is feasible, is the key to a good prognosis and low rates of recurrence. However, there is no consensus on the therapeutic strategy of a HPC/SFT, which is difficult to be completely resected. Literature lacks a therapeutic algorithm for these tumors, and thus, more clinical studies are needed to reach a consensus.

3.
Postgrad Med ; 131(7): 445-452, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31443616

RESUMEN

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.


Asunto(s)
Neurofibromatosis 1/fisiopatología , Grupo de Atención al Paciente , Esclerosis Tuberosa/fisiopatología , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno del Espectro Autista/complicaciones , Manchas Café con Leche/complicaciones , Niño , Preescolar , Estudios de Cohortes , Dermatólogos , Femenino , Genes de Neurofibromatosis 1 , Pruebas Genéticas , Genética Médica , Grecia , Humanos , Lactante , Discapacidad Intelectual/complicaciones , Discapacidades para el Aprendizaje/complicaciones , Masculino , Mosaicismo , Síndromes Neurocutáneos/genética , Síndromes Neurocutáneos/fisiopatología , Síndromes Neurocutáneos/terapia , Neurofibroma Plexiforme/complicaciones , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/genética , Neurofibromatosis 1/terapia , Neurólogos , Neuropsicología , Oncólogos , Oftalmólogos , Cirujanos Ortopédicos , Servicio Ambulatorio en Hospital , Pediatras , Radiología , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/fisiopatología , Neoplasias Cutáneas/terapia , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/genética , Esclerosis Tuberosa/terapia
4.
Oxf Med Case Reports ; 2019(5): omz039, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-31198575

RESUMEN

Fibrous dysplasia is a rare non-malignant condition where fibrous tissue replaces the normal bone architecture. Involvement of temporal and occipital bones is exceptionally rare and is associated with unique complications. A 10-year-old boy presented with right retroauricular enlargement and pain. Imaging studies and biopsy revealed fibrous dysplasia of the temporal and occipital bones. There was no hearing loss or sequelae arising from posterior fossa compression. The patient was discharged with follow-up instructions. Only 10 cases of occipital bone fibrous dysplasia have been reported in the medical literature. Occipital bone fibrous dysplasia can be complicated with Chiari malformation and syringomyelia while temporal bone involvement is associated with hearing loss. These potential developments require close follow-up that includes detailed neurologic examination, imaging and audiology.

5.
Asian J Neurosurg ; 14(2): 581-584, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31143289

RESUMEN

An intraparenchymal pericatheter cyst is a rare complication of ventriculoperitoneal shunt, which is not well described yet. Due to its rarity, lack of characteristic symptoms and radiological features that often mimic brain tumors or abscesses, especially in head computed tomography without contrast can be easily misdiagnosed. We report the case of a 9-year-old girl who was admitted to a peripheral hospital due to severe headaches and vomiting. The child had a history of craniotomy and ventriculoperitoneal shunt for posterior fossa tumor, performed in our department, 4 years earlier. The patient underwent a brain magnetic resonance imaging (MRI) scan and transmitted to our hospital with the diagnosis of brain tumor. However, a closer look at the MRI established the diagnosis of intraparenchymal pericatheter cerebrospinal fluid cyst; hence, the patient underwent shunt revision and cyst drainage. We researched the literature and described 20 reported cases, discussing the pathophysiological mechanisms, the radiological features, and the optimal treatment of this interesting, yet a challenging complication.

6.
Eur J Paediatr Neurol ; 23(3): 427-437, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30799092

RESUMEN

OBJECTIVE: Non-progressive genetic disorders may present with motor dysfunction resembling cerebral palsy (CP). Such patients are often characterized as CP mimics. The purpose of this work was to delineate the clinical manifestations and molecular findings of CP mimic patients, with the ultimate goal to offer specific disease-modifying therapy and genetic counseling. METHODS: Retrospective study of 47 patients diagnosed with CP and no acquired etiology. Chart review of clinical, neuroradiological, biochemical and molecular data was performed. RESULTS: 31,91% of patients manifested with features resembling dyskinetic CP, 19,14% spastic CP, 10,63% ataxic CP and 38,30% mixed CP. In 23 patients molecular diagnosis was reached and included 5 hereditary spastic paraplegia genes (SPG) in spastic CP mimics; HPRT1, TH, QDPR, DDC in dystonic CP mimics; ADCY5 and NIKX2-1 in choreic CP mimics; CANA1A in ataxic CP mimics; and SPG, PDHA1, NIKX2-1, AT, SLC2A1 and SPR in mixed CP mimics. In 14 patients, the etiological diagnosis led to specific treatment. CONCLUSIONS: CP mimics show a number of features that differ from classic CP and can be used as diagnostic clues, including presence of mixed motor features, minor dysmorphic features, oculogyric movements, multiple features of autonomic dysfunction, and acquired microcephaly. A more stringent use of the concept of CP focused on acquired lesions during the perinatal and infancy periods, and excluding disorders that could be of genetic origin, could contribute to a purer use of the term. Identification of a specific genetic cause for CP mimics may in certain cases lead to etiologic treatment.


Asunto(s)
Trastornos Motores/diagnóstico , Trastornos Motores/genética , Trastornos Motores/fisiopatología , Parálisis Cerebral/diagnóstico , Parálisis Cerebral/fisiopatología , Niño , Diagnóstico Diferencial , Femenino , Grecia , Humanos , Masculino , Estudios Retrospectivos , Centros de Atención Terciaria
7.
Surg Neurol Int ; 9: 104, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29930870

RESUMEN

Background: Infratentorial subdural empyemas in children are extremely rare and potentially lethal intracranial infections. Delay in diagnosis and therapy is associated with increased morbidity and mortality. Case Description: A 4-year-old boy presented with cerebellar signs following a failed treatment of otitis media. Imaging studies revealed a subdural empyema and left transverse and sigmoid sinus thrombosis. The empyema was evacuated operatively and antibiotic treatment was initiated and administered for 6 weeks. The patient recovered fully and was discharged 4 weeks following the evacuation of the empyema. Conclusion: While prompt identification and treatment of subdural infratentorial empyemas are crucial for favorable outcomes, their diagnosis in children might be initially missed. This is, in part because they are so rare and in part, because imaging artifacts arising from the complex posterior fossa anatomy may obscure their presence in the computer tomography (CT) scan. Therefore, high level of suspicion is necessary, given the appropriate history and clinical presentation. In children, this is a recent history of protracted otitis media and central nervous system symptomatology-cerebellar or other.

8.
Neurol Neurochir Pol ; 52(4): 534-542, 2018 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-29544873

RESUMEN

INTRODUCTION: Neck pain and torticollis are common symptoms in the pediatric population that rarely requires further investigation. However, in case symptoms persist, then a more meticulously approach should be considered. Underlying conditions such as infections, neck injury, autoimmune disorders or even cervical spine cancer should be excluded from diagnosis. Cervical spine cancer is a rare neurosurgical entity in the pediatric population and even rarer is atlantoaxial Ewing's sarcoma. In this report, we present a rare case of primary Ewing's sarcoma of the axis. CASE REPORT: A 3.5-year-old female with progressive neck pain and intermittent episodes of torticollis was referred to our outpatient clinic. Imaging studies revealed a malignant tumor located on C2 vertebra. Diagnosis of Ewing's Sarcoma was confirmed via open biopsy and the patient was treated with Euro-EWING 99 chemotherapy. CONCLUSION: Pediatric neck pain and/or torticollis should raise high suspicion for malignancy of cervical spine. Modern diagnostic means and techniques can assist in the screening and diagnosis of these tumors.


Asunto(s)
Sarcoma de Ewing , Preescolar , Femenino , Humanos
10.
Eur J Clin Invest ; 47(12)2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28981141

RESUMEN

Duchenne muscular dystrophy (DMD) is an X-linked muscle disorder characterized by progressive and irreversible loss of muscular function. As muscular disease progresses, the repair mechanisms cannot compensate for cellular damage, leading inevitably to necrosis and progressive replacement by fibrous and fatty tissue. Cardiomyopathy and respiratory failure are the main causes of death in DMD. In addition to the well-described muscle and heart disease, cognitive dysfunction affects around 30% of DMD boys. Myocardial fibrosis, assessed by late gadolinium enhancement (LGE), using cardiovascular magnetic resonance imaging (CMR), is an early marker of heart involvement in both DMD patients and female carriers. In parallel, brain MRI identifies smaller total brain volume, smaller grey matter volume, lower white matter fractional anisotropy and higher white matter radial diffusivity in DMD patients. The in vivo brain evaluation of mdx mice, a surrogate animal model of DMD, showed an increased inorganic phosphate (P(i))/phosphocreatine (PCr) and pH. In this paper, we propose a holistic approach using techniques of magnetic resonance imaging, spectroscopy and diffusion tensor imaging as a tool to create a "heart and brain imaging map" in DMD patients that could potentially facilitate the patients' risk stratification and also future research studies in the field.


Asunto(s)
Encéfalo/diagnóstico por imagen , Cardiomiopatías/diagnóstico por imagen , Disfunción Cognitiva/diagnóstico por imagen , Corazón/diagnóstico por imagen , Distrofia Muscular de Duchenne/diagnóstico por imagen , Miocardio/patología , Animales , Anisotropía , Encéfalo/metabolismo , Encéfalo/patología , Cardiomiopatías/etiología , Disfunción Cognitiva/etiología , Disfunción Cognitiva/metabolismo , Disfunción Cognitiva/patología , Imagen de Difusión Tensora , Modelos Animales de Enfermedad , Fibrosis , Sustancia Gris/diagnóstico por imagen , Sustancia Gris/patología , Heterocigoto , Humanos , Concentración de Iones de Hidrógeno , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Ratones , Ratones Endogámicos mdx , Distrofia Muscular de Duchenne/complicaciones , Distrofia Muscular de Duchenne/metabolismo , Tamaño de los Órganos , Fosfatos/metabolismo , Fosfocreatina/metabolismo , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología
11.
Eur J Clin Invest ; 47(12)2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29027210

RESUMEN

Duchenne muscular dystrophy (DMD) is an X-linked muscle disorder characterized by progressive, irreversible loss of cardiac and skeletal muscular function. Muscular enlargement in DMD is attributed to oedema, due to the increased cytoplasmic Na+ concentration. The aim of this review was to present the current experience and emphasize the role of cardiovascular magnetic resonance (CMR) in the diagnosis of this condition. DMD patients' survival depends on ventilatory assistance, as respiratory muscle dysfunction was the most common cause of death in the past. Currently, due to improved ventilatory assistance, cardiomyopathy has become the main cause of death, even though clinically overt heart failure may be absent. CMR is the technique of choice to assess the pathophysiologic phenomena taking place in DMD, such as myocardial oedema and subepicardial fibrosis. The classic index to assess oedema is the T2-weighted short-tau inversion recovery (T2w-STIR), as it suppresses the signal from flowing blood and resident fat and enhances sensitivity to tissue fluid. Furthermore, CMR is the most reliable technique to detect and quantify fibrosis in DMD. Recently, the new indices T2, T1 mapping (native and postcontrast) and the extracellular volume (ECV) allow a more accurate approach of myocardial oedema and fibrosis. To conclude, the assessment of cardiac oedema and subepicardial fibrosis in the inferolateral wall of the left heart ventricle are the most important early finding in DMD with preserved ventricular function, and CMR, using both the classic and the new indices, is the best technique to detect and monitor these lesions.


Asunto(s)
Cardiomiopatías/diagnóstico por imagen , Edema/diagnóstico por imagen , Corazón/diagnóstico por imagen , Distrofia Muscular de Duchenne/diagnóstico por imagen , Miocardio/patología , Técnicas de Imagen Cardíaca , Cardiomiopatías/etiología , Edema/etiología , Espacio Extracelular , Fibrosis , Humanos , Imagen por Resonancia Magnética , Distrofia Muscular de Duchenne/complicaciones
12.
Am J Case Rep ; 18: 953-958, 2017 Sep 05.
Artículo en Inglés | MEDLINE | ID: mdl-28871077

RESUMEN

BACKGROUND Radiofrequency ablation has been established as a treatment method for malignancies and some particular cystic lesions, especially in adults. Experience with radiofrequency ablation in the treatment of hydatid cysts, especially in children, is limited. CASE REPORT Although echinococcosis is rare, especially in children, we describe a 7-year-old boy with lung and liver cystic echinococcosis. Diagnosis was established by clinical history and imaging findings and confirmed by positive antiechinococcal antibodies. After 6 months of chemotherapy with albendazole, the liver lesion remained and a radiofrequency ablation under computed tomography guidance was obtained. The procedure was performed with a new type of ablation electrode in order to minimize handling and procedure duration and to achieve the best clinical result in only 1 session. This type of electrode provides the ability to simultaneously drain and ablate the cyst and the ability to monitor the desired ablation temperature in real time. CONCLUSIONS Our patient is the first pediatric case with hepatic hydatid cyst treated successfully with the use of a new type of radiofrequency ablation electrode under computed tomography guidance.


Asunto(s)
Ablación por Catéter , Equinococosis Hepática/cirugía , Equinococosis Pulmonar/cirugía , Ablación por Catéter/instrumentación , Niño , Equinococosis Hepática/diagnóstico por imagen , Equinococosis Pulmonar/diagnóstico por imagen , Humanos , Masculino , Cirugía Asistida por Computador , Tomografía Computarizada por Rayos X
13.
Eur J Cancer ; 86: 46-58, 2017 11.
Artículo en Inglés | MEDLINE | ID: mdl-28961466

RESUMEN

AIM: To present incidence of central nervous system (CNS) tumours among adolescents and young adults (AYAs; 15-39 years) derived from registries of Southern and Eastern Europe (SEE) in comparison to the Surveillance, Epidemiology and End Results (SEER), US and explore changes due to etiological parameters or registration improvement via evaluating time trends. METHODS: Diagnoses of 11,438 incident malignant CNS tumours in AYAs (1990-2014) were retrieved from 14 collaborating SEE cancer registries and 13,573 from the publicly available SEER database (1990-2012). Age-adjusted incidence rates (AIRs) were calculated; Poisson and joinpoint regression analyses were performed for temporal trends. RESULTS: The overall AIR of malignant CNS tumours among AYAs was higher in SEE (28.1/million) compared to SEER (24.7/million). Astrocytomas comprised almost half of the cases in both regions, albeit the higher proportion of unspecified cases in SEE registries (30% versus 2.5% in SEER). Similar were the age and gender distributions across SEE and SEER with a male-to-female ratio of 1.3 and an overall increase of incidence by age. Increasing temporal trends in incidence were documented in four SEE registries (Greater Poland, Portugal North, Turkey-Izmir and Ukraine) versus an annual decrease in Croatia (-2.5%) and a rather stable rate in SEER (-0.3%). CONCLUSION: This first report on descriptive epidemiology of AYAs malignant CNS tumours in the SEE area shows higher incidence rates as compared to the United States of America and variable temporal trends that may be linked to registration improvements. Hence, it emphasises the need for optimisation of cancer registration processes, as to enable the in-depth evaluation of the observed patterns by disease subtype.


Asunto(s)
Neoplasias del Sistema Nervioso Central/epidemiología , Adolescente , Adulto , Distribución por Edad , Edad de Inicio , Astrocitoma/diagnóstico , Astrocitoma/epidemiología , Neoplasias del Sistema Nervioso Central/diagnóstico , Recolección de Datos , Europa (Continente)/epidemiología , Femenino , Humanos , Incidencia , Masculino , Análisis de Regresión , Programa de VERF , Distribución por Sexo , Factores de Tiempo , Estados Unidos/epidemiología , Adulto Joven
14.
J Matern Fetal Neonatal Med ; 29(21): 3496-505, 2016 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-26742485

RESUMEN

OBJECTIVE: Tocolytic drugs are used widely in order to prevent preterm birth. Ritodrine, is the only food and drug administration (FDA) approved drug for tocolytic use. We estimated the cytogenetic effect of ritodrine administered as maternal therapy, alone or in combination with smoking, in women and their neonates. METHODS: Lymphocyte and fibroblasts cultures were evaluated and three indices were analyzed; sister chromatid exchanges (SCEs), proliferation rate index (PRI) and mitotic index (MI) as well as average generation time (AGT) and population doubling time (PDT). Campothacin (CPT-11) was used as a positive control. RESULTS: Administration of ritodrine up to a month revealed significant reduction of SCEs/cell in neonates in the presence or absence of the mutagenic agent. A statistical significant increase on SCEs, for mothers and neonates, was noticed in neonate's lymphocytes when tocolytic therapy was over a month. Ritodrine revealed a cytoprotective action against smoking when the two factors were combined, but the synergistic action of ritodrine with smoking increased genotoxicity, cytostaticity and cytotoxicity of neonates after long administration (1-3 months). CONCLUSIONS: The time-depended genotoxic, cytostatic and cytotoxic action of ritodrine alone or in combination with smoking suggests that its administration should not exceed the time period of a month.


Asunto(s)
Fibroblastos/efectos de los fármacos , Linfocitos/efectos de los fármacos , Trabajo de Parto Prematuro/tratamiento farmacológico , Nacimiento Prematuro/tratamiento farmacológico , Ritodrina/efectos adversos , Fumar/efectos adversos , Tocolíticos/efectos adversos , Adulto , Análisis de Varianza , Estudios de Casos y Controles , Proliferación Celular , Femenino , Edad Gestacional , Humanos , Recién Nacido , Masculino , Índice Mitótico , Embarazo , Nacimiento Prematuro/prevención & control , Ritodrina/administración & dosificación , Intercambio de Cromátides Hermanas , Factores de Tiempo , Tocolíticos/administración & dosificación
15.
Case Rep Otolaryngol ; 2015: 897239, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26221557

RESUMEN

Masked mastoiditis is a distinct form of mastoiditis with little or no symptomatology, characterized by its potential to generate severe otogenic complications. Therefore, suspected masked mastoiditis should be diagnosed and treated without delay. This study reports a rare case of masked mastoiditis, manifested by multiple intracranial complications in an immunocompetent girl. The child exhibited headache and neurological symptomatology. Imaging studies revealed an epidural and a large cerebellar abscess and the patient was immediately treated with a triple antibiotic therapy. Mastoid surgery and drainage of the epidural abscess took place after the stabilization of the patient's neurologic status, on the 3rd hospitalization day. The cerebellar abscess was treated by craniectomy and ultrasound-guided needle aspiration in the 3rd week of hospitalization. The girl was finally discharged in excellent condition. Two years later, she is still in good health, without otological or neurological sequelae. Masked mastoiditis is an insidious disease which requires increased clinical awareness and adequate imaging. Should clinical and/or radiological findings be positive, mastoidectomy must follow in order to prevent severe otogenic complications that can be triggered by masked mastoiditis.

16.
Pediatrics ; 134(5): e1468-73, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25349319

RESUMEN

Neonatal onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a rare, early-onset autoinflammatory disorder and the most severe form of cryopyrin-associated periodic syndrome, which is associated with overproduction of interleukin (IL)-1ß. This is a case report of a 70-day-old boy, who was diagnosed with NOMID/CINCA syndrome and who has been treated with anti-IL-1ß monoclonal antibody (canakinumab) since then, despite his early infancy. The patient presented with fever, aseptic meningitis, and rash. The clinical manifestations combined with the elevated acute-phase reactants strengthened the suspicion of the diagnosis of NOMID/CINCA syndrome. Specific immunologic workup revealed high levels of serum amyloid A and IL-6. The clinical diagnosis was confirmed by the detection of a de novo mutation of the CIAS1/NLR3 gene (p.Thr348Met), and canakinumab was started at a dose of 4 mg/kg, higher than the recommended dose for older age. White blood cell, serum amyloid A, C-reactive protein, and IL-6 levels quickly decreased and became normal within a month, and the clinical condition of the patient improved significantly. The infant remains without recurrence of disease or further complications and with satisfactory mental development with anti-IL-1ß monoclonal antibody treatment for >2 years. This report indicates the importance of early diagnosis of NOMID/CINCA syndrome and medication with IL-1 blockers as soon as possible for the improvement of the prognosis of cryopyrin-associated periodic syndrome and of a better patient outcome.


Asunto(s)
Anticuerpos Monoclonales/uso terapéutico , Síndromes Periódicos Asociados a Criopirina/diagnóstico , Síndromes Periódicos Asociados a Criopirina/tratamiento farmacológico , Interleucina-1beta/antagonistas & inhibidores , Anticuerpos Monoclonales Humanizados , Manejo de la Enfermedad , Estudios de Seguimiento , Humanos , Lactante , Masculino , Resultado del Tratamiento
17.
J Matern Fetal Neonatal Med ; 27(2): 127-31, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23682763

RESUMEN

OBJECTIVE: The examination of the genotoxic, cytostatic and cytotoxic effects of smoking during pregnancy. METHOD: Lymphocyte cultures of peripheral blood were received from 20 women who smoked during pregnancy as well as umbilical cord blood of their newborns. Fluorescence Plus Giemsa staining technique was used in order to perform cytogenetic analyses for three indices, Sister Chromatid Exchanges (SCEs), Proliferation Rate Index (PRI) and Mitotic Index (MI). To reveal any underlying chromosome instability, CPT-11 was used as a positive control. RESULTS: Newborns whose mothers smoke during pregnancy had increased SCEs levels on their lymphocytes when they were exposed to the mutagenic agent CPT-11 (p < 0.01) compared with newborns lymphocytes exposed to the same agent with non-smoking mothers. Also, mothers smoking during pregnancy had increased SCE levels when their lymphocytes were exposed to CPT-11 (p < 0.01) compared with non smoking mothers whose lymphocytes were exposed to the same agent. In both groups newborns appeared as having decreased (p < 0.01) spontaneous SCEs levels compared with the corresponding SCE rates of their mothers. Decreases of PRIs and MIs are observed in mothers compared to their newborns. CONCLUSION: Smoking during pregnancy can promote cytogenetic damage in newborn's DNA, causing chromosome instability. The clinical importance of this indirect damage lies in the fact that this type of damage can act synergistically with other environmental and/or chemical mutagenic substances possibly leading to carcinogenicity.


Asunto(s)
Análisis Citogenético , Intercambio Materno-Fetal , Fumar/efectos adversos , Adolescente , Adulto , Camptotecina/análogos & derivados , Camptotecina/farmacología , Proliferación Celular , Células Cultivadas , Daño del ADN/efectos de los fármacos , Daño del ADN/genética , Femenino , Sangre Fetal/citología , Humanos , Recién Nacido , Irinotecán , Linfocitos , Índice Mitótico , Mutágenos/administración & dosificación , Embarazo , Intercambio de Cromátides Hermanas , Fumar/sangre , Adulto Joven
18.
Eur J Obstet Gynecol Reprod Biol ; 165(2): 205-9, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22921575

RESUMEN

OBJECTIVE: To study cytogenetic damage in order to estimate the effect of pre-pregnancy smoking on pregnant women and their foetuses. STUDY DESIGN: Lymphocyte cultures were obtained from peripheral blood of 20 women who quit smoking during pregnancy, and umbilical cord blood of their newborns at delivery. Cytogenetic analyses were performed for sister chromatid exchanges (SCEs), proliferation rate index (PRI) and mitotic index (MI) using the Fluorescence Plus Giemsa staining technique. Twenty non-smoking women and their newborns were evaluated as controls. CPT-11, a known antineoplastic, was used as a positive genotoxic agent in order to correlate non-smoking women with smoking women and reveal any underlying chromosome instability. Statistical evaluation of SCE frequencies, PRI and MI was based on independent samples t-test in order to estimate the effect of pre-pregnancy smoking on mothers and their newborns. RESULTS: SCEs were induced in the cord blood lymphocytes of newborns whose mothers smoked before pregnancy when they were exposed to the mutagenic agent CPT-11 (p<0.01). A similar increase in SCEs was observed in both non-smoking and smoking mothers exposed to CPT-11. Newborns in both groups had significantly lower SCE levels than their mothers (p<0.01). CONCLUSION: Pre-pregnancy smoking results in cytogenetic damage for both mothers and newborns, and is an important risk factor for cancer and/or other genetic-related diseases. Smoking cessation needs to occur well before conception in order to avoid the strong cytogenetic association between pre-pregnancy smoking by mothers and their newborns.


Asunto(s)
Sangre Fetal/citología , Linfocitos/citología , Exposición Materna , Fumar/sangre , Adulto , Citogenética , Femenino , Humanos , Recién Nacido , Embarazo , Intercambio de Cromátides Hermanas , Cese del Hábito de Fumar
19.
J Matern Fetal Neonatal Med ; 25(3): 222-5, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21615230

RESUMEN

OBJECTIVE: Fetal ovarian cysts are intra-abdominal structures frequently diagnosed prenatally, tending to present as isolated unilateral lesions in normal fetuses in the third trimester. These cysts may present with complications and their diameter and echogenicity are the main criteria for establishing their prognosis. Spontaneous regression of fetal ovarian cysts is very usual. In the present study, we present our clinical experience on fetal ovarian cyst surveillance and treatment, as well as a review of the literature in the same field. MATERIAL AND METHOD: In this study, we reviewed pre- and postnatal medical records and ultrasonography of 16 fetuses that were diagnosed with ovarian cysts, in Obstetrics Department of University Hospital of Alexandroupolis, between January 2000 and April 2010. We have also reviewed the available literature about fetal ovarian cysts. RESULTS: In a total of 16 cases, postnatal surgery was performed in one infant due to ovarian cyst torsion. In the remaining 15 cases, cysts regressed completely in two fetuses during pregnancy and all the rest of the cysts, including four complex ones, resolved spontaneously after birth. CONCLUSIONS: When fetal ovarian cysts are detected, they should be followed up by serial ultrasonographic examinations. The majority of them will regress spontaneously in a period of 12 months after birth, independent of their sonographic findings. Only symptomatic cysts or cysts with a diameter >5 cm, which do not regress or enlarge, should be treated.


Asunto(s)
Feto/anomalías , Quistes Ováricos/diagnóstico por imagen , Femenino , Humanos , Quistes Ováricos/cirugía , Embarazo , Pronóstico , Estudios Retrospectivos , Ultrasonografía Prenatal
20.
Minim Invasive Ther Allied Technol ; 20(3): 155-9, 2011 May.
Artículo en Inglés | MEDLINE | ID: mdl-21082900

RESUMEN

We performed an evaluation of ultrasound-guided transvaginal aspiration of ovarian cysts as a viable alternative to surgery in 104 reproductive and 17 postmenopausal women. One-hundred and twenty-one patients with a simple >4 cm diameter ovarian cyst, with a benign appearance on ultrasound as well as on clinical and blood examination, underwent transvaginal fine needle aspiration of the cyst under ultrasonographic control. One-hundred and four patients were of reproductive age and 12 were postmenopausal. Sixty women who were of reproductive age and in which OCP treatment was not contraindicated followed a six-month therapy with oral contraceptives after the intervention. In the group of patients of reproductive age under OCP treatment the cyst persisted in nine of the 60 women (recurrence rate 15%). In the other group of patients of reproductive age,under no OCP treatment, the recurrence rate was 47% (21 of the 44 women). In the group of postmenopausal patients, the cyst persisted in ten out of 17 cases (recurrence rate 58,9%). Transvaginal aspiration of ovarian cysts is a reliable alternative to surgery with many advantages such as excellent tolerance, low risk and cost of complications and recurrence. The OCP treatment after aspiration seems to increase the success rate of expectant management.


Asunto(s)
Biopsia con Aguja/métodos , Anticonceptivos Orales/uso terapéutico , Quistes Ováricos/terapia , Adolescente , Adulto , Factores de Edad , Anciano , Biopsia con Aguja/efectos adversos , Terapia Combinada , Femenino , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Quistes Ováricos/diagnóstico por imagen , Quistes Ováricos/patología , Recurrencia , Estudios Retrospectivos , Resultado del Tratamiento , Ultrasonografía Intervencional/métodos , Vagina , Adulto Joven
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