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1.
Int. braz. j. urol ; 48(2): 294-302, March-Apr. 2022. tab, graf
Article in English | LILACS | ID: biblio-1364942

ABSTRACT

ABSTRACT Objective: To compare enhancement patterns of typical adrenal adenomas, lipid-poor adenomas, and non-adenomas on magnetic resonance imaging (MRI). Materials and Methods: Evaluation of adrenal nodules larger than 1.0 cm, with at least 2-year follow-up, evaluated on MRI in January 2007 and December 2016. Two different protocols were included - upper abdomen MRI (delayed phase after 3 minutes) and abdomen and pelvis MRI (delayed phase after 7 minutes) - and nodules were divided in typical adenomas (characterized on out-of-phase MRI sequence), lipid-poor adenomas (based on follow-up imaging stability) and non-adenomas (based on pathological finding or follow-up imaging). T2-weighted and enhancement features were analyzed (absolute and relative washout and enhancement curve pattern), similarly to classic computed tomography equations. Results: Final cohort was composed of 123 nodules in 116 patients (mean diameter of 1.8 cm and mean follow up time of 4 years and 3 months). Of them, 98 (79%) nodules had features of typical adenomas by quantitative chemical shift imaging, and demonstrated type 3 curve pattern in 77%, mean absolute and relative washout of 29% and 16%, respectively. Size, oncologic history and T2-weighted features showed statistically significant differences among groups. Also, a threshold greater than 11.75% for absolute washout on MRI achieved sensitivity of 71.4% and specificity of 70.0%, in differentiating typical adenomas from non-adenomas. Conclusion: Calculating absolute washout of adrenal nodules on MRI may help identifying proportion of non-adenomas.


Subject(s)
Humans , Adrenal Gland Neoplasms/pathology , Adrenal Gland Neoplasms/diagnostic imaging , Magnetic Resonance Imaging/methods , Tomography, X-Ray Computed/methods , Retrospective Studies , Sensitivity and Specificity , Contrast Media , Diagnosis, Differential
2.
Medicina UPB ; 41(1): 85-90, mar. 2022. Ilus
Article in Spanish | LILACS, COLNAL | ID: biblio-1362717

ABSTRACT

Se presenta el caso de una mujer en la quinta década de la vida que ingresa al servicio de urgencias con manifestaciones gastrointestinales consistentes en vómito e hipo. Después de múltiples estudios e intervenciones por especialistas, se piensa en el origen central de los síntomas. Se realiza una resonancia magnética nuclear (RMN) cerebral que permite el enfoque del caso y posterior confirmación del diagnóstico de una enfermedad dentro del espectro de la neuromielitis óptica, positiva para anticuerpos anti-acuaporinas-4. El tratamiento con esteroide y anticuerpo monoclonal (Rituximab) llevan a un control adecuado de la enfermedad.


We present a case report of a woman in her 50s admitted to the emergency room with gastrointestinal manifestations consisting of vomiting and hiccups. After a series of studies and interventions by specialists, a brain magnetic resonance imaging (MRI) is performed in order to find the central origin of the symptoms. This allows the approach of the case and subsequent confirmation of the diagnosis of Neuromyelitis optica, positive for anti-acuaporin-4 antibodies. Finally, it seems that treatment with steroids and monoclonal antibodies leads to proper control of the disease.


Se apresenta o caso de uma mulher na quinta década de vida que ingressa ao serviço de urgências com manifestações gastrointestinais consistentes em vômito e soluço. Depois de múltiplos estudos e intervenções por especialistas, se pensa na origemcentral dos sintomas. Se realiza uma ressonância magnética nuclear (RMN) cerebral que permite o enfoque do caso e posterior confirmação do diagnóstico de uma doença dentro do espectro da neuromielite óptica, positiva para anticorpos anti-acuaporinas-4. O tratamento com esteroide e anticorpo monoclonal (Rituximab) levam a um controle adequado da doença.


Subject(s)
Humans , Neuromyelitis Optica , Vomiting , Brain , Magnetic Resonance Imaging , Aquaporins , Hiccup , Antibodies
3.
Arch. argent. pediatr ; 120(1): e39-e42, feb 2022. tab, ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1353777

ABSTRACT

Las nuevas metodologías de secuenciación masiva han permitido caracterizar e identificar variantes genéticas asociadas a diferentes patologías. En este trabajo se presenta el caso de una paciente con una mutación del gen RARS2 que codifica la enzima arginino-ARNt ligasa para la codificación de proteínas. Esta alteración genética se manifiesta en hipoplasia pontocerebelosa tipo 6, con una prevalencia de <1/1 000 0000, caracterizada por un cerebelo y un puente de menor tamaño asociados a un retraso grave en el neurodesarrollo. El análisis de caso permite un mejor conocimiento de enfermedades de origen genético, específicamente, de aquellas con patrones de herencia autosómicos recesivos de padres no consanguíneos. Su estudio sobre todo en lo relacionado con el ámbito familiar y socioeconómico, y su base genética, ayuda a una mejor calidad de vida de los pacientes y su familia.


The latest method of next-generation sequencing has allowed the characterization and identification of genetic variants associated to diverse pathologies. In this article, we present the case of female patient with a mutation of the RARS2 gene that encodes the enzyme for arginyl tRNA synthetase for coding of proteins. This genetic alteration manifests in pontocerebellar hypoplasia type 6, with a prevalence of <1/1,000,0000, characterized by a cerebellum and pons that are smaller in size and are associated with severe neurodevelopmental delay. The analysis of the case of this patient provides better knowledge of diseases of genetic origin; specifically, regarding genetic diseases of autosomal recessive patterns of inheritance from non-consanguineous parents. The impact of these studies; specially within the family, social, economic and genetic aspects helps provide a better quality of life for these patients and their family.


Subject(s)
Humans , Female , Child, Preschool , Arginine-tRNA Ligase/genetics , Quality of Life , Magnetic Resonance Imaging , Sequence Analysis , Colombia , Mutation
4.
Rev. bras. ortop ; 57(1): 82-88, Jan.-Feb. 2022. tab, graf
Article in English | LILACS | ID: biblio-1365738

ABSTRACT

Abstract Objective To compare magnetic resonance imaging (MRI) using a body coil with computed tomography (CT) in measuring the tibial tubercle-trochlear groove distance (TT-TG) and the patellar tendon-cartilaginous trochlear groove (PT-CTG) distances, and evaluate interrater reliability. Methods The study group consisted of 34 knees from 17 asymptomatic subjects with no history of knee pathology, trauma or surgery. A low-dose CT scan and an axial T1-weighted MRI sequence of the knees were performed with rigorous standardization of the positioning with full extension of the knees and parallel feet. Two musculoskeletal radiologists performed the measurements independently. The reliability of the TT-TG and PT-CTG distances on CT (17.1 ± 4.2 mm and 17.3 ± 4.2 mm) and of MRI (16.2 ± 3.7 mm and 16.5 ± 4.1 mm) was assessed by intraclass correlation coefficient (ICC [2,1]) and Bland-Altman graphs, as well as the interrater reliability for both methods. Results Good reliability and agreement was observed between CT and MRI measurements for TT-TG and PT-CTG, with an ICC of 0.774 (p< 0.001) and 0.743 (p< 0.001), respectively, and no systematic bias was observed. The interrater reliability was excellent for all measurements on both imaging methods. Conclusion This was the first study that compared MRI using a body coil with CT in measuring the TT-TG distance, with the potential clinical implication that the CT in this clinical setting could be avoided.


Resumo Objetivo Comparar a ressonância magnética (RM) usando uma bobina corporal e tomografia computadorizada (TC) na medição da distância tubérculo tibial-sulco troclear (TT-ST) e as distâncias tendão patelar-sulco troclear cartilaginoso (TP-STC), e avaliar a confiabilidade interavaliador. Métodos O grupo de estudo consistiu em 34 joelhos de 17 indivíduos assintomáticos sem história de patologia, trauma ou cirurgia no joelho. Uma tomografia computadorizada (TC) de baixa dose e uma sequência axial de RM ponderada em T1 dos joelhos foram realizadas com padronização rigorosa do posicionamento com extensão total dos joelhos e pés paralelos. Dois radiologistas musculoesqueléticos realizaram as medidas de forma independente. A confiabilidade das distâncias TT-ST e TP-STC na TC (17,1 ± 4,2 mm e 17,3 ± 4,2 mm) e RM (16,2 ± 3,7 mm e 16,5 ± 4,1 mm), foi avaliada pelo coeficiente de correlação intraclasse (CCI [2,1)]) e gráficos Bland-Altman, bem como a confiabilidade entre avaliadores para ambos os métodos. Resultados Boa confiabilidade e concordância foram observadas entre as medidas de TC e RM para TT-ST e TP-STC com um CCI de 0,774 (p< 0,001) e 0,743 (p< 0,001), respectivamente, e nenhum viés sistemático foi observado. A confiabilidade entre avaliadores foi excelente para todas as medições em ambos os métodos de imagem. Conclusão Este foi o primeiro estudo que comparou a RM usando bobina de corpo com a TC na medição da distância TT-ST, com a implicação clínica potencial de que a TC neste cenário clínico poderia ser evitada.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Magnetic Resonance Imaging , Tomography, X-Ray Computed , Patellar Ligament , Patellar Dislocation , Knee
8.
Repert. med. cir ; 31(Suplemento): 19-27, 2022. ilus.
Article in English, Spanish | LILACS, COLNAL | ID: biblio-1367319

ABSTRACT

El síndrome respiratorio agudo severo causado por coronavirus 2 (SARS-CoV-2) es responsable de la propagación mundial de la enfermedad por coronavirus (COVID-19). Nuestro conocimiento hasta el momento del impacto de este virus en el sistema nervioso es limitado. El propósito de este artículo es revisar el espectro de los diversos hallazgos en neuroimágenes asi como la fisiopatología en los pacientes con COVID-19. Se necesitan estudios futuros que examinen el impacto de los síntomas y su correlación con las neuroimágenes durante el curso de la enfermedad, para aclarar y evaluar aún más el vínculo entre las complicaciones neurológicas y el resultado clínico, así como limitar las consecuencias a largo plazo.


Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is responsible for the global spread of coronavirus disease (COVID-19). Our understanding, so far, of the impact this virus has on the nervous system is limited. Our article aims to review the spectrum of neuroimaging findings in patients with COVID 19, as well as, their underlying pathophysiology. Future studies examining the impact of symptoms and their correlation with neuroimaging findings duirng the course of the disease are needed to further clarify and evaluate the association between neurological complications and clinical outcome, as well as to limit long-term consequences.


Subject(s)
Humans , Male , Female , Review , SARS-CoV-2 , COVID-19 , Neurologic Manifestations , Magnetic Resonance Imaging , Cerebral Hemorrhage , Coronavirus Infections
9.
Einstein (Säo Paulo) ; 20: eRC5584, 2022. graf
Article in English | LILACS | ID: biblio-1360405

ABSTRACT

ABSTRACT A 2-year-old female patient, admitted in the emergency room, presented diarrhea for 5 days and bloody stools in the last 24 hours. Physical examination revealed no significant findings. Ultrasound was initially performed, showing an elongated, well delimited and solid mass occupying since right hypocondrium until left iliac fossa, displacing adjacent structures. In sequence, magnetic resonance imaging was performed for confirmation of findings suggestive of omentum lipoma. After 1 week, the surgical resection was performed by videolaparoscopic acess. During 2-year follow-up, there was no sign of recurrence.


Subject(s)
Humans , Female , Child, Preschool , Child , Omentum/surgery , Omentum/diagnostic imaging , Lipoma/surgery , Lipoma/diagnostic imaging , Magnetic Resonance Imaging , Ultrasonography
10.
Article in Spanish | LILACS, BINACIS | ID: biblio-1358102

ABSTRACT

Objetivo: Evaluar, en forma retrospectiva, las diferentes variantes de los tubérculos de Lister y el extensor largo del pulgar en imágenes de resonancia magnética de muñecas y, sobre la base de dichos hallazgos, proponer variables a la clasificación. Materiales y métodos: Estudio retrospectivo utilizando imágenes de resonancia magnética entre el 1 de marzo y el 10 de noviembre de 2019. Se incluyeron imágenes de muñeca de pacientes sanos (cortes axiales, sagitales y coronales de 1 mm de espesor), >18 años, sin fractura de muñeca o del carpo, previa o actual, y se excluyó a quienes no cumplían estos criterios. Se analizaron el tubérculo de Lister, la altura de los picos radial y cubital, el ángulo, la longitud del tubérculo, la profundidad de los valles y la altura del tabique. Se evaluó el extensor largo del pulgar analizando la altura, el espesor, la superficie y la presencia o no inflamación asociada. Resultados: Se analizaron 500 imágenes de muñeca, y se obtuvieron 11 subtipos de tubérculo de Lister: 411 tipo 1, 58 tipo 2 y 26 tipo 3. Dentro de estos, el más frecuente fue el tipo 1B. El 26,6% tenía inflamación asintomática en el tercero y cuarto compartimento. Conclusiones: El tubérculo de Lister es importante en muchos procedimientos y sirve como punto de referencia anatómico; por lo tanto, es preciso conocer su patrón más frecuente y sus variantes anatómicas. Proponemos una ampliación de la clasificación, adicionando nuevos tipos de tubérculo por conocer y su relación con el extensor largo del pulgar. Nivel de Evidencia: IV


Objective: To retrospectively evaluate the different variants of Lister's tubercle (LT) and extensor pollicis longus (EPL) using magnetic resonance imaging (MRI) of the wrists, and based on these findings propose variables for classification. Materials and Methods: Retrospective study using images from MRI database files between 03/01/19 to 11/10/19. We included MRI of the wrist of healthy patients (axial, sagittal, and coronal slices of 1 mm thickness) who were older than 18 years, with no history of previous or current wrist or carpal fracture, excluding those who did not meet these criteria. We analyzed LT, height of the radial and ulnar peaks, the angle, tubercle length, depth of the grooves and septum height. We evaluated the EPL, analyzing the height, thickness, surface, and presence of associated inflammation. Results: We evaluated 500 MRI of the wrist, obtaining 11 different subtypes of LT. We found 411 type 1 Lister tubercles, 58 type 2, and 26 type 3. Among these, the most frequent were types 1b. 26.6% presented asymptomatic inflammation in 3rd and 4th compartments. Conclusion: Lister's tubercle is of importance in many procedures and serves as an anatomical landmark, meriting to know its most frequent pattern and its anatomical variants. We propose an extension of the classification, adding new types of tubercles to be known and their relationship with the EPL. Level of Evidence: IV


Subject(s)
Wrist/anatomy & histology , Wrist/diagnostic imaging , Magnetic Resonance Imaging
12.
J. Card. Arrhythm. (Impr.) ; 34(3): 120-127, Dec., 2021.
Article in English | LILACS | ID: biblio-1359639

ABSTRACT

Atrial fibrillation is the most prevalent arrhythmia in clinical practice and has different strategies for its control. Of these strategies, the percutaneous ablation of the pulmonary veins stands out, with robust results in relation to drug treatment. It is an invasive procedure and, therefore, not free from complications, which must be properly diagnosed and treated. Among the possible complications, there is stiff atrium syndrome, characterized by reduced atrial compliance caused by post-ablation fibrosis, which, in turn, leads to atrial filling dysfunction and the consequent increase in atrial and venous capillary pulmonary pressures. The case report demonstrates this infrequent but important complication, which presents good results for clinical treatment, in addition to the contribution of cardiac magnetic resonance in its diagnosis and in the assessment of arrhythmia recurrence rates.


Subject(s)
Atrial Fibrillation , Magnetic Resonance Imaging , Catheter Ablation , Heart Atria
13.
Biomédica (Bogotá) ; 41(4): 615-624, oct.-dic. 2021. tab, graf
Article in Spanish | LILACS | ID: biblio-1355736

ABSTRACT

Resumen | La enfermedad de Erdheim-Chester es una condición extremadamente rara en la edad pediátrica. Se presenta el caso de una niña de 12 años con diagnóstico histológico y radiológico de enfermedad de Erdheim-Chester multisistémica y mutación en el gen BRAF, que requirió tratamiento con dabrafenib. Hasta el momento, se han reportado 22 casos pediátricos en el mundo y este es el segundo en Latinoamérica. Se observó el hallazgo radiológico denominado signo oscuro paraselar, descrito hasta ahora en pacientes con hipofisitis autoinmunitaria para diferenciarlos de aquellos con adenomas hipofisarios. Este reporte contribuye a la literatura médica en dos aspectos fundamentales: las manifestaciones clínicas de la enfermedad y su diagnóstico en la población pediátrica.


Abstract | The Erdheim-Chester's disease is extremely rare in children. We present the case of a 12-year-old girl with histological and radiological diagnosis of this disease and mutation of the BRAF gene, who developed multisystemic compromise requiring treatment with dabrafenib. We identified 22 reports of this condition among children worldwide and this is the second pediatric case in Latin America. Diagnostic imaging is critical to confirm Erdheim-Chester disease and for the surgical planning of the biopsy. Additionally, we identified the parasellar dark sign, which has previously been reported on lymphocytic hypophysitis. This report contributes to the current practice as it shows the clinical presentation and the diagnostic workout of this disease in pediatrics.


Subject(s)
Pediatrics , Erdheim-Chester Disease , Magnetic Resonance Imaging , Histiocytosis , Proto-Oncogene Proteins B-raf
14.
Infectio ; 25(4): 293-295, oct.-dic. 2021. tab, graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1286725

ABSTRACT

Resumen La trombosis venosa cerebral (TVC) es una presentación clínica poco común del tromboembolismo venoso caracterizada por cefalea, crisis convulsivas, déficits neurológicos focales y papiledema. El diagnóstico es confirmado con Tomografía axial computarizada (TAC) de cráneo y Resonancia magnética nuclear (RMN) cerebral. La TVC tiene una relación importante con el virus de inmunodeficiencia humana (VIH), ya que los pacientes VIH positivos cursan con hiperviscosidad san guínea, alteraciones de factores anticoagulantes endógenos y riesgo de sobreinfección, entre otros; que predisponen a estados protrombóticos y lesión vascular como lo es la TVC. El tratamiento de la TVC es terapia anticoagulante, por lo general se utiliza heparina no fraccionada o heparina de bajo peso molecular para la fase aguda y anticoagulantes orales como la warfarina para el mantenimiento posterior. Reportamos el primer caso documentado de TVC en un paciente VIH positivo en Colombia.


Abstract Cerebral venous thrombosis (CVT) is a rare clinical presentation of venous thromboembolism characterized by headache, seizures, neurological deficits and papi lledema. The diagnosis is confirmed using computed tomography scan (CT scan) and magnetic resonance imaging (MRI) of the brain. CVT has an important relationship with the human immunodeficiency virus (HIV) given that HIV-positive patients may present with blood hyperviscosity, irregular levels of endogenous anticoagulation factors and risk of sepsis among others, that predispose to prothrombotic states and vascular injury such as CVT. The treatment of CVT is anticoagulant therapy, generally unfractionated heparin or low molecular weight heparin for the early phase and oral anticoagulants such as warfarin for the late phase. This case reports the first documented case of CVT in an HIV positive patient in Colombia.


Subject(s)
Humans , Male , Adult , Venous Thromboembolism , Skull , Brain , Magnetic Resonance Imaging , HIV , Headache , Hepatitis B
15.
Arch. endocrinol. metab. (Online) ; 65(6): 841-845, Nov.-Dec. 2021. tab, graf
Article in English | LILACS | ID: biblio-1350003

ABSTRACT

SUMMARY Ovarian adrenal rest tumors (OARTs) are very rare. We describe a case of a young woman with uncontrolled classical congenital adrenal hyperplasia (CCAH), presenting with bilateral OARTs, successfully treated with steroid replacement. A 20-year-old woman, known to have 21OH-CCAH, presented with severe abdominal pain, vomiting, diarrhea, and fever. As a result of poor compliance, 6 months before her admission hirsutism worsened and amenorrhea, hyperpigmentation, and weakness developed. ACTH levels were 278 < pmol/L and 17OHP 91.3 nmol/L. She was admitted for parenteral antibiotics and high-dose hydrocortisone treatment. CT revealed bilateral juxta-ovarian masses (6.2 x 3.6 x 7.4 cm left and 5 x 2.2 x 3.2 cm right) that on MRI were iso-intense in T1 and hypointense in T2, with early enhancement and rapid washout. One week of high-dose hydrocortisone resulted in significant clinical and laboratory improvement and the patient was discharged with 2 mg dexamethasone/day. One month later US revealed shrinkage of the masses and dexamethasone dose was decreased. At three months from discharge, she has resumed regular menses, and a repeated MRI revealed the para-ovarian masses have shrunk. One year after the diagnosis, the para-ovarian masses have shrunk more to 2.8 x 1.9 x 4.3 on the left and 2.1 x 0.9 x 1.2 on the right with less contrast enhancement in comparison to previous test possibly due to fibrotic changes of the tissue. OARTs are rare tumors with a poorly known natural history, and surgery has been the first option in the few reported cases. We demonstrate that medical treatment is a good alternative, leading to significant tumor shrinkage over a short period.


Subject(s)
Humans , Male , Female , Young Adult , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/drug therapy , Adrenal Rest Tumor/drug therapy , Adrenal Rest Tumor/diagnostic imaging , Hydrocortisone/therapeutic use , Magnetic Resonance Imaging
16.
Arch. endocrinol. metab. (Online) ; 65(6): 758-767, Nov.-Dec. 2021. tab, graf
Article in English | LILACS | ID: biblio-1349985

ABSTRACT

ABSTRACT Objective: Contrast-enhanced brain magnetic resonance imaging (MRI) is routinely performed in children with central precocious puberty (CPP). We evaluated the value of a dedicated sellar MRI protocol without contrast enhancement in girls with CPP. Subjects and methods: This study included 261 girls diagnosed with CPP. We performed sellar MRI scanning without gadolinium enhancement of the hypothalamic-pituitary area (HPA) at the pituitary level, including additional T2-weighted imaging of whole-brain scans to check for other lesions. We evaluated the prevalence of intracranial lesions via this MR protocol. In addition,the correlation between the clinical parameters and morphology of the pituitary gland on the images was assessed. Results: Intracranial lesions were detected in 17 (6.5%) of the 261 girls. Of the 17 girls with abnormalities, 16 (94.1%) had findings in brain areas other than the HPA. The weight, height, Tanner stage of patients were significantly (p < 0.05) higher in the group with greater pituitary height. Patient weight and height, Tanner stage of breast development, and luteinizing hormone (LH) levels were significantly (p < 0.05) greater in those with a higher pituitary grade as determined on sellar MRI. Conclusion: A dedicated unenhanced sellar MRI protocol provides valuable information on brain lesions and pituitary morphology. We found a significantly low prevalence of brain lesions among girls with CPP. Analysis of the height or shape of the pituitary gland on sellar MRI revealed significant correlations with the weight, height, Tanner stage, and LH levels of the patients.


Subject(s)
Humans , Female , Puberty, Precocious/epidemiology , Puberty, Precocious/diagnostic imaging , Luteinizing Hormone , Magnetic Resonance Imaging , Prevalence , Contrast Media , Gadolinium
17.
Arq. neuropsiquiatr ; 79(12): 1084-1089, Dec. 2021. graf
Article in English | LILACS | ID: biblio-1355706

ABSTRACT

ABSTRACT Background: Although epilepsy is primarily known as a cortical disorder, there is growing body of research demonstrating white matter alterations in patients with epilepsy. Objective: To investigate the prevalence of white matter hyperintensities (WMH) and its association with seizure characteristics in patients with epilepsy. Methods: The prevalence of WMH in 94 patients with epilepsy and 41 healthy controls were compared. Within the patient sample, the relationship between the presence of WMH and type of epilepsy, frequency of seizures, duration of disease and the number of antiepileptic medications were investigated. Results: The mean age and sex were not different between patients and healthy controls (p>0.2). WMH was present in 27.7% of patients and in 14.6% of healthy controls. Diagnosis of epilepsy was independently associated with the presence of WMH (ß=3.09, 95%CI 1.06-9.0, p=0.039). Patients with focal epilepsy had higher prevalence of WMH (35.5%) than patients with generalized epilepsy (14.7%). The presence of WMH was associated with older age but not with seizure characteristics. Conclusions: WMH is more common in patients with focal epilepsy than healthy controls. The presence of WMH is associated with older age, but not with seizure characteristics.


RESUMO Antecedentes: Embora a epilepsia seja principalmente conhecida como um distúrbio cortical, há um crescente corpo de pesquisas que demonstra alterações na substância branca em pacientes com epilepsia. Objetivo: Investigar a prevalência de hiperintensidades da substância branca (WMH) e sua associação com características das crises em pacientes com epilepsia. Métodos: A prevalência de WMH em 94 pacientes com epilepsia e 41 controles saudáveis ​​foi comparada. Na amostra de pacientes, foi investigada a relação entre a presença de WMH e o tipo de epilepsia, a frequência das crises, a duração da doença e o número de medicamentos antiepilépticos. Resultados: A média de idade e o sexo não diferiram entre pacientes e controles saudáveis ​​(p>0,2). WMH estava presente em 27,7% dos pacientes, enquanto em 14,6% dos controles saudáveis. O diagnóstico de epilepsia foi independentemente associado à presença de WMH (ß=3,09, IC95% 1,06-9,0, p=0,039). Pacientes com epilepsia focal apresentaram maior prevalência de WMH (35,5%) do que pacientes com epilepsia generalizada (14,7%). A presença de WMH foi associada à idade avançada, mas não a características das crises. Conclusões: Pacientes com epilepsia focal têm WMH mais comum do que controles saudáveis. A presença de WMH está associada à idade avançada, mas não a características das crises epilépticas.


Subject(s)
Humans , Aged , Epilepsy/drug therapy , Epilepsy/diagnostic imaging , White Matter/diagnostic imaging , Seizures/epidemiology , Seizures/diagnostic imaging , Magnetic Resonance Imaging
18.
Arq. neuropsiquiatr ; 79(12): 1109-1115, Dec. 2021. tab, graf
Article in English | LILACS | ID: biblio-1355702

ABSTRACT

ABSTRACT Background: The genetic predisposition to multiple sclerosis (MS) is associated with HLA alleles, especially HLA-DRB1*15:01. Objective: To identify associations between findings in magnetic resonance imaging (MRI) and genetic features in a Brazilian cohort of patients with MS. Methods: We retrospectively studied data from 95 consecutive patients with MS. Two independent observers who were blinded to the clinical data identified black holes and enhanced lesions on T1 MRI sequences, and counted and measured contrast-enhanced lesions on T2 and Flair (fluid attenuation inversion recovery) sequences. Cases were classified according to lesion size, number, and volume. The HLA-DRB1, HLA-DQB1, and HLA-DQA1 alleles, and the rs4774, rs3087456, rs6897932, rs731236, and rs1033182 single nucleotide polymorphisms were identified by polymerase chain reaction amplification with sequence-specific primers using the One Lambda Inc. Kit, Canoga Park, CA, USA. Results: Patients with the HLA-DQA1*04:01 allele had lesion load (adjusted for age, sex, and MS duration) above median compared with patients with other HLA-DQA1 alleles (p=0.02). There were no differences among all the other HLA alleles and single nucleotide polymorphisms and lesion load. Conclusions: The correlation of the HLA-DQA1*04:01 allele with a higher lesion load on T2/Flair MRI sequences suggests that the presence of this allele is associated with the risk of greater MS severity.


RESUMO Antecedentes: A predisposição genética para a esclerose múltipla (EM) está associada a alelos HLA, principalmente o HLA-DRB1*15:01. Objetivo: Identificar associações entre lesões na ressonância magnética e características genéticas em uma coorte brasileira de pacientes com EM. Métodos: Estudamos retrospectivamente os dados de 95 pacientes consecutivos com EM. Dois observadores independentes que desconheciam os dados clínicos identificaram "black holes" e lesões realçadas pelo contraste nas sequências de ressonância magnética T1 e contaram e mediram as lesões nas sequências T2 e FLAIR (fluid attenuated inversion recovery). Os casos foram classificados de acordo com tamanho, número e volume da lesão. Os alelos HLA-DRB1, HLA-DQB1 e HLA-DQA1 e os polimorfismos de nucleotídeo único rs4774, rs3087456, rs6897932, rs731236 e rs1033182 foram identificados por amplificação de reação em cadeia da polimerase com iniciadores específicos de sequência usando o kit One Lambda Inc., Canoga Park, CA, EUA. Resultados: Os pacientes com alelo HLA-DQA1*04:01 apresentaram carga de lesão (ajustada para idade, sexo e duração da EM) acima da mediana em comparação com outros pacientes com demais alelos HLA-DQA1 (p=0,02). Não houve diferenças entre todos os outros alelos HLA e polimorfismos de nucleotídeo único e carga lesional. Conclusões: A correlação do alelo HLA-DQA1*04:01 com maior carga de lesão nas sequências de RM em T2 sugere que a presença desse alelo pode estar associada ao risco de maior gravidade da EM.


Subject(s)
Humans , HLA-DQ alpha-Chains/genetics , Multiple Sclerosis/genetics , Multiple Sclerosis/diagnostic imaging , Magnetic Resonance Imaging , Retrospective Studies , Genes, MHC Class II , Genetic Predisposition to Disease , Alleles , HLA-DQ beta-Chains , HLA-DRB1 Chains/genetics , Gene Frequency
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