23 research outputs found

    Agressive pediatric myofibromatosis in a two-year-old child

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    Introduction: Aggressive paediatric myofibromatosis is an autosomal recessive disease characterized by fibroblastic proliferation from cells originated in muscle-aponeurotic tissue. Its etiology is unknown, and the average age of the reported cases is 7 years old. The tumor exhibits rapid painless growth and appears attached to muscle tissue and/or bone. The treatment of choice is conservative surgical excision despite of early relapses has been reported. Observation: A 2-year-old patient, with no morbid history, presented with a large swelling in the left submandibular region, firm, neither defined limits nor inflammatory characteristics. Its size doubled 2 months after an incisional biopsy. CT images showed great compromise of the left mandibular body with expanded and thinned cortical bone. The MRI showed extension towards the pharynx. Histopathological findings were elongated fibroblastic and ovoid cells arranged in bundles and fascicles within fibromyxoid stroma, an image consistent with the diagnosis. The treatment consisted in a conservative exeresis of the tumor, preserving the jaw. Control 1 year after surgical removal shows no signs of relapse and the mandibular structure has been restored. Discussion: The large size of the lesion and bone involvement at such an early age evidenced a very aggressive lesion, however, supported by a previous biopsy, we performed a conservative treatment, which only caused the loss of a dental germ, impossible to take off from the intraosseous tumor. The control of this type of lesions requires a longer follow-up. (C) 2017 Elsevier Masson SAS. All rights reserved

    Double-blind trial of levodopa/carbidopa/entacapone versus levodopa/carbidopa in early Parkinson\u2019s disease

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    Expression and protein content of IGF-I and IGF-I receptor in placentas from small, adequate and large for gestational age newborns

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    In humans, a direct relationship between IGF-I cord blood levels and birth weight has been demonstrated. To determine the placental IGF-I, IGF-II and IGF-IR mRNA and protein contents in full-term pregnancies from appropriate for gestational age (AGA), small for gestational age (SGA) and large for gestational age (LGA) newborns, we studied the placentas from 35 AGA, 30 SGA and 28 LGA pregnancies. The IGF-I, IGF-II and IGF-I receptor (IGF-IR) placental mRNA and protein contents were determined in the basal and chorionic plates of the placenta. IGF1 and IGF1R mRNA was higher in SGA compared to AGA and LGA placentas and lower in LGA compared with AGA placentas. In addition, a higher protein content of IGF-I and IGF-IR was observed in SGA compared with AGA and LGA placentas and lower contents in LGA compared with AGA placentas. These results suggest that the higher IGF-I and IGF-IR contents observed in SGA placentas and the lower contents observed in LGA placentas compared with AGA placent

    DAX-1 and DAX-1A expression in human testicular tissues with primary spermatogenic failure

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    DAX-1 [dosage-sensitive sex reversal-adrenal hypoplasia congenital (AHC) critical region on the X chromosome gene 1; NR0B1] is an orphan nuclear receptor that acts as a transcriptional repressor in adrenal/gonadal development, steroidogenesis and probably spermatogenesis. An alternatively spliced form called DAX-1A (NR0B1A) has been described in several tissues including the testis, and in vitro studies have shown an inhibitory effect on DAX-1 transcriptional function. We aimed to study the mRNA and protein expression of DAX-1 in testicular tissues of 65 men with primary spermatogenic failure [complete Sertoli cell only syndrome (SCOS), focal SCOS, maturation arrest and mixed atrophy] compared with 33 controls with normal spermatogenesis. As a novel finding, we observed intense immunostaining, not only in the nucleus of Sertoli cells, but also in pachytene spermatocytes and round spermatids. The quantitative mRNA expression of DAX-1 and DAX-1A was similar between cases and controls an
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