Hyperventilation and seizures in an adolescent female

A 16 year-old girl was admitted after suffering from recurrent episodes of dyspnea and stridor, cyanosis, loss of contact, stiffening of all four limbs, clenching of the jaw and eye retroversion that lasted for a few seconds to a minute, followed by slow recovery of consciousness without any loss of sphincter control. These symptoms began at the age of 11 and worsened over time. Prolonged rate corrected QT intervals was observed with an ECG. Two cardio-respiratory monitorings were performed (one during daytime hours while the patient was awake, and one at night time while the patient slept). Daytime recordings showed 17 central apnoeas and 97 central hypopneas, with an apnea-hypopnea index (AHI) of 13.2 events/hour, that were associated with severe oxyhemoglobin desaturation. In contrast, night time recordings were normal (AHI=1.1 events/hour). The patient underwent diurnal monitoring of transcutaneous pCO2(PtcCO2), transcutaneous O2(PtcO2), SpO2 and end tidal CO2 (PETCO2), with simultaneous monitoring of regional cerebral oxymetry (rSO2) which showed values of PtcCO2 between 8 and 15 mmHg, suggesting several episodes of marked hyperventilation. Twenty-nine episodes of severe arterial desaturation (SpO2<50%) were registered, all after the same number of apnea events, with ascent of PtcO2 up to 28 mmHg at the end of apnea. During the final phase of apnea, the patient showed cyanosis, contact disturbance, grimaces, oral movements of rhyme, and, on three occasions, partial seizures. A mask was packaged and applied daytime to the face of the patient during episodes of hyperventilation to prevent, together with a psychiatric follow up, rapid falls of PaCO2 levels determining central apnoeas

Epigenetic remodelling in human hepatocellular carcinoma

Hepatocellular carcinoma (HCC) is the most frequent primary liver cancer, being the sixth most commonly diagnosed cancer and the fourth leading cause of cancer-related death. As other heterogeneous solid tumours, HCC results from a unique synergistic combination of genetic alterations mixed with epigenetic modifications. In HCC the patterns and frequencies of somatic variations change depending on the nearby chromatin. On the other hand, epigenetic alterations often induce genomic instability prone to mutations. Epigenetics refers to heritable states of gene expression without alteration to the DNA sequence itself and, unlike genetic changes, the epigenetic modifications are reversible and affect gene expression more extensively than genetic changes. Thus, studies of epigenetic regulation and the involved molecular machinery are greatly contributing to the understanding of the mechanisms that underline HCC onset and heterogeneity. Moreover, this knowledge may help to identify biomarkers for HCC diagnosis and prognosis, as well as future new targets for more efficacious therapeutic approaches. In this comprehensive review we will discuss the state-of-the-art knowledge about the epigenetic landscape in hepatocarcinogenesis, including evidence on the diagnostic and prognostic role of non-coding RNAs, modifications occurring at the chromatin level, and their role in the era of precision medicine. Apart from other better-known risk factors that predispose to the development of HCC, characterization of the epigenetic remodelling that occurs during hepatocarcinogenesis could open the way to the identification of personalized biomarkers. It may also enable a more accurate diagnosis and stratification of patients, and the discovery of new targets for more efficient therapeutic approaches

Produção de morangos no sistema semihidropônico.

bitstream/CNPUV/8140/1/cir062.pdf2. ed

Útero Didelfo

Defeitos de desenvolvimento dos ductos de Müller ocorrem em 5-6% das mulheres e têm diferentes apresentações. A associação entre essas anormalidades e malformações do trato urinário é bem estabelecida e, possivelmente, tem sua explicação na origem embrionária mesodérmica comum dos dois sistemas.  O útero didelfo (dois corpos, dois colos e duas vaginas) pode se apresentar com septo vaginal completo e agenesia renal. Essa anomalia mülleriana rara, usualmente se apresenta após a menarca com dor abdominal cíclica, leucorréia ou massa paravaginal. Tende a não ser reconhecida prontamente, pois a hemivagina patente permite menstruações regulares e intercurso sexual, sendo necessário um alto grau de suspeita para um pronto diagnóstico.  Relatamos o caso de uma paciente de 18 anos com dor pélvica cíclica, secreção vaginal e história de quatro cirurgias prévias, sem diagnóstico definitivo e sem resolução dos sintomas. O diagnóstico inicial da malformação mülleriana foi confirmado por ressonância nuclear magnética. A paciente foi tratada com ressecção do septo vaginal longitudinal, que expôs o outro colo uterino, ampliou a vagina e resolveu os sintomas da paciente