Adv Exp Med Biol
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Case reports are defined as the scientific documentation of a single clinical observation and have a time-honored and rich tradition in medicine and scientific publication. Case reports represent a relevant, timely, and important study design in advancing medical scientific knowledge especially of rare diseases. ⋯ In this chapter the author will review and summarize the debate around the scientific publication of case reports in the context of the study of rare diseases and will present a taxonomy that ideally will encourage further dialogue on the topic. Future research on the importance of case reports in advancing knowledge of rare diseases is recommended.
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This study investigates the relationship between changes in brain tissue haemodynamics, oxygenation and oxidised cytochrome-c-oxidase ([oxCCO]) in the adult brain during hyperoxia and hypercapnea. 10 healthy volunteers were studied. We measured the mean blood flow velocity of the right middle cerebral artery (Vmca) with transcranial Doppler (TCD) and changes in concentrations of total haemoglobin ([HbT]=[HbO2]+[HHb]), haemoglobin difference ([Hbdiff]=[HbO2]-[HHb]) and [oxCCO] with broadband near-infrared spectroscopy (NIRS). We also measured the absolute tissue oxygenation index (TOI) using NIR spatially resolved spectroscopy. ⋯ During hypercapnea there was an increase in TOI (2.76 +/- 2.16%), [Hbdiff] (7.36 +/- 2.64), [HbT] (2.61 +/- 2.7 microM), Vmca (14.92 +/- 17.5%) and in the oxidation of [oxCCO] (0.25 +/- 0.17 microM). Correlation analysis shows that there was association between [oxCCO] and TOI, [Hbdiff] and [HbT] (r=0.83, r=0.93 and r=0.82) but not with Vmca (r=0.33). We conclude that an increase in [oxCCO] was seen during both challenges and it was highly associated with brain tissue oxygenation.
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Forkhead Transcription Factors: Vital Elements in Biology and Medicine provides a unique platform for the presentation of novel work and new insights into the vital role that forkhead transcription factors play in both cellular physiology as well as clinical medicine. Internationally recognized investigators provide their insights and perspectives for a number of forkhead genes and proteins that may have the greatest impact for the development of new strategies for a broad array of disorders that can involve aging, cancer, cardiac function, neurovascular integrity, fertility, stem cell differentiation, cellular metabolism, and immune system regulation. Yet, the work clearly sets a precedent for the necessity to understand the cellular and molecular function of forkhead proteins since this family of transcription factors can limit as well as foster disease progression depending upon the cellular environment. ⋯ Furthermore, FoxO transcription factors are exciting considerations for disorders such as cancer in light of their pro-apoptotic and inhibitory cell cycle effects as well as diabetes mellitus given the close association FoxOs hold with cellular metabolism. In addition, these transcription factors are closely integrated with several novel signal transduction pathways, such as erythropoietin and Wnt proteins, that may influence the ability of FoxOs to lead to cell survival or cell injury. Further understanding of both the function and intricate nature of the forkhead transcription factor family, and in particular the FoxO proteins, should allow selective regulation of cellular development or cellular demise for the generation of successful future clinical strategies and patient well-being.
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Sensory information in the lung is generated by airway receptors located throughout the respiratory tract. This information is mainly carried by the vagus nerves and yields multiple reflex responses in disease states (cough, bronchoconstriction and mucus secretion). ⋯ A single sensory unit contains homogeneous or heterogeneous types of receptors, providing varied and mixed behavior. Thus, the sensory units are not only transducers, but also processors that integrate information in different modes.
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Because of the bi-genomic origin of the OXPHOS system, mitochondrial disease-associated mutations have been found in both mtDNA and nuclear structural genes. In the last years, interest has shifted toward mendelian genetics in mitochondrial disease, not only because the majority of the OXPHOS system subunits are encoded by the nuclear genome, but also because a large number of yet unknown nuclear proteins, such as regulatory proteins and assembly factors, are likely involved in its biogenesis and function. A clinical-genetic classification can be proposed for nuclear defects that affect the biogenesis of the OXPHOS system, as follows: (i) disorders due to nuclear gene defects encoding structural components or assembly factors of the OXPHOS complexes, (ii) disorders due to gene defects in the biogenesis of protein constituents of the OXPHOS system, (iii) disorders due to defects in the biosynthesis of non-protein constituents of the respiratory chain, and (iv) disorders due to gene defects encoding proteins involved in mitochondrial dynamics.