RESUMEN
Marfan syndrome and related disorders are a group of heritable connective tissue disorders and share many clinical features that involve cardiovascular, skeletal, craniofacial, ocular, and cutaneous abnormalities. The majority of affected individuals have aortopathies associated with early mortality and morbidity. Implementation of targeted gene panel next-generation sequencing in these individuals is a powerful tool to obtain a genetic diagnosis. Here, we report on clinical and genetic spectrum of 53 families from India with a total of 83 patients who had a clinical diagnosis suggestive of Marfan syndrome or related disorders. We obtained a molecular diagnosis in 45/53 (85%) index patients, in which 36/53 (68%) had rare variants in FBN1 (Marfan syndrome; 63 patients in total), seven (13.3%) in TGFBR1/TGFBR2 (Loeys-Dietz syndrome; nine patients in total) and two patients (3.7%) in SKI (Shprintzen-Goldberg syndrome). 21 of 41 rare variants (51.2%) were novel. We did not detect a disease-associated variant in 8 (15%) index patients, and none of them met the Ghent Marfan diagnostic criteria. We found the homozygous FBN1 variant p.(Arg954His) in a boy with typical features of Marfan syndrome. Our study is the first reporting on the spectrum of variants in FBN1, TGFBR1, TGFBR2, and SKI in Indian individuals.
Asunto(s)
Proteínas de Unión al ADN/genética , Fibrilina-1/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Síndrome de Marfan/genética , Mutación , Proteínas Proto-Oncogénicas/genética , Receptor Tipo II de Factor de Crecimiento Transformador beta/genética , Receptor Tipo I de Factor de Crecimiento Transformador beta/genética , Adolescente , Adulto , Niño , Preescolar , Estudios de Cohortes , Femenino , Predisposición Genética a la Enfermedad , Humanos , India/epidemiología , Lactante , Masculino , Síndrome de Marfan/epidemiología , Síndrome de Marfan/patología , Persona de Mediana Edad , Adulto JovenRESUMEN
Leptospirosis is a zoonotic infection caused by the Leptospira interrogans. Although it is endemic in tropical countries, global incidence has increased in several temperate and developed regions. Here, we present a cardiac magnetic resonance (CMR) and multidetector computer tomography (MDCT) chest features of active systemic leptospiral infection in a 19-year-old male. The MDCT appearances of lungs and CMR appearances of myocardium in icteric leptospirosis are described. Early diagnosis and prompt treatment is important to manage the cardiothoracic complications.
RESUMEN
The aim of this study was to compare image quality, level of diagnostic confidence and interobserver agreement in assessment of carotid stenosis with contrast enhanced MR angiography (CE MRA) in comparison with 2D time of flight MR angiography (2D TOF MRA). 60 carotid arteries in 30 patients were examined by three observers. Image quality and diagnostic confidence were assessed on the basis of a visual analogue scale. Interobserver variability was assessed with the help of intraclass correlation coefficient. Median values on the visual analogue scale for image quality and diagnostic confidence were higher for CE MRA compared with 2D TOF MRA for all three observers. Higher intraclass correlation values were recorded for interobserver variability for CE MRA compared with 2D TOF MRA both for visual estimation of carotid stenosis as well as for measurement of carotid stenosis on the basis of North American Symptomatic Carotid Endarterectomy Trial (NASCET) and European Carotid Surgery Trial (ECST) criteria. CE MRA provides better image quality, higher level of diagnostic confidence and more interobserver agreement compared with 2D TOF MRA.
Asunto(s)
Arteria Carótida Externa , Estenosis Carotídea/diagnóstico , Angiografía por Resonancia Magnética/normas , Artefactos , Femenino , Humanos , Angiografía por Resonancia Magnética/métodos , Masculino , Variaciones Dependientes del ObservadorRESUMEN
BACKGROUND: In India, the correlates of leukoaraiosis (LA) have not been widely reported. This study was designed to investigate the factors which correlate with LA. MATERIALS AND METHODS: We included patients with LA who consented for the study and graded their severity on the basis of Fazekas scale. We excluded patients with LA who did not consent/cooperate for the study as also patients with other white matter changes which mimic LA. RESULTS: LA is a common and under-rated cause of disability. Presentations include cognitive decline, gait disturbance, dysarthria, bladder/bowel sphincter disturbances, and increased risk of stroke. The comorbidities include hyperhomocysteinemia, hypertension, dyslipidemia, tobacco use, ischemic heart disease, previous stroke, atrial fibrillation, chronic renal failure, and bariatric surgery.