Medicina
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Nevoid Basal Cell Carcinoma Syndrome (NBCCS) or Gorlin-Goltz syndrome is a rare autosomal dominant disorder, mainly due to PTCH1 gene mutations, that comprises a broad spectrum of clinical manifestations. The presence of multiple basal cell carcinomas (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis. We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, hypertelorism, macrocephaly, and corpus callosum agenesia, but with absence of skin lesions. ⋯ The proband and his mother carry 25 pb duplication in exon 10 (c.1375dupl25bp) that causes a reading frameshift with a premature stop codon. Bioinformatics analysis predicted that this mutation results in a truncated protein shorter than normal. Our results suggest that complete clinical and genealogical studies accompanied by genetic analysis are essential in the early detection of the NBCCS cases such the one presented here.
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Early repolarization (RP) on the electrocardiogram (ECG) of the athlete has been considered a benign finding. In some publications it has been associated with increased risk of sudden death. The objectives of this study were to evaluate the prevalence of infero-lateral RP in a population of trained players, to describe variables associated with this pattern and investigate the occurrence of events in the follow up. ECG of players with a normal cardiovascular physical examination and without family and personal history of heart disease, were analyzed. RP was considered the J-point elevation = 0.1 mV over baseline in at least 2 inferior and / or lateral precordial leads, associated or not with positive deflection or notch in the end of the QRS. RP is related to the voltage of R in V5 or V6, the PR interval, heart rate (HR) and age. They were contacted at 60 ± 5 months after the initial assessment ECG. ⋯ chi square and t test for unpaired data. We evaluated ECG of 210 soccer players, of European-South American origin, with high intensity training. Age: 18 ± 4.6 years. The RP ECG was present in 86 (40.9%), including the lower subtype in 17 (8.1%). One ECG showed PR in lower face in isolation. RP footballers were older, with less FC, prolonged PR and lower voltage of R. None of the players presented cardiovascular events in a 5 years follow up after this evaluation.
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Hantavirus Pulmonary Syndrome (HPS) is a disease of viral etiology that affects humans causing severe acute respiratory symptoms. In Patagonia the disease is caused by the Andes Virus (AND) and transmitted by the rodent Oligoryzomys longicaudatus. The aim of this study was to identify those human activities that increase the risk of exposure to rodents, what we call "contagious scenarios". ⋯ Major exposition in El Bolson identified 8 cases of indoor activities of the total 18 reported in the area (44.5%), while in Bariloche 8 (57.1%) cases out of 14 were reported in outdoor surroundings. In general, activities that generated greater risk were work-related, accounting for 23 (71.9%) cases while 7 were related to recreational activities (28.1%). The identification of "contagious scenarios" at local level provided information for an effective application of available resources in terms of prevention and sanitary education.
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Although there is strong evidence about neuronal and glial disturbances at advanced stages of Alzheimer's disease, less attention has been directed to early, preamyloid changes that could contribute to the progression of the disease. We evaluated neuronal and glial morphological changes and behavioral disturbances in PDAPP-J20 transgenic (Tg) mice, carrying mutated human APP gene (amyloid precursor protein), at 5 months of age, before brain amyloid deposition occurs. Using NeuN immunohistochemistry we found decreased numbers of pyramidal and granular neurons in the hippocampus associated with a reduction of hippocampal volume in Tg mice compared with controls. ⋯ Using confocal microscopy we observed decreased number and cell complexity of GFAP+ astrocytes, indicating potential glial atrophy. Cognitive impairment (novel location recognition test) and increased anxiety (open field) were detected in Tg mice, associated with more c-Fos+ nuclei in the amygdala, possibly indicating a role for emotionality in early stages of the disease. The study of early alterations in the course of amyloid pathology could contribute to the development of diagnostic and preventive strategies.