Gene Editing and the Rise of Designer Babies

Nearly as long as human beings have existed on this earth, many people have sought out the ideal of perfecting their population: infanticide in Sparta during the Hellenistic era; compulsory sterilization in the 1920s in the United States; and the unimaginable atrocities of the Holocaust in the 1940s in Europe. The goal of alleged perfection leaves many hesitant to repeat the mistakes of our past. Today, a new frontier of science has emerged, gene editing using CRISPR-Cas9, reigniting ethical debate as to how far humans should go in manipulating the population. While many proponents herald this technology as a potential for eradicating devastating genetic disease, some critics fear that it presents an opportunity to pre-select desirable traits in offspring, which is expounded by a lack of clear scientific and ethical regulations in the United States and abroad. Though the National Academies of Science and Medicine recently began an initiative to address the implications of this technology, this body can only provide a recommendation. This Note looks to the technology, historical eugenics\u27 concerns, domestic and foreign law, and the recommendations of the Academies, in proposing a two-part solution to address the concerns surrounding designer babies reinforcing United States research laws and revising the Universal Declaration on the Human Genome and Human Rights

First identification of a chemotactic receptor in an invertebrate species: Structural and functional characterization of Ciona intestinalis C3a receptor

In mammals, the bioactive fragment C3a, released from C3 during complement activation, is a potent mediator of inflammatory reactions and exerts its functional activity through the specific binding to cell surface G protein-coupled seven-transmembrane receptors. Recently, we demonstrated a Ciona intestinalis C3a (CiC3a)-mediated chemotaxis of hemocytes in the deuterostome invertebrate Ciona intestinalis and suggested an important role for this molecule in inflammatory processes. In the present work, we have cloned and characterized the receptor molecule involved in the CiC3a-mediated chemotaxis and studied its expression profile. The sequence, encoding a 95,394 Da seven-transmembrane domain protein, shows the highest sequence homology with mammalian C3aRs. Northern blot analysis revealed that the CiC3aR is expressed abundantly in the heart and neural complex and to a lesser extent in the ovaries, hemocytes, and larvae. Three polyclonal Abs raised in rabbits against peptides corresponding to CiC3aR regions of the first and second extracellular loop and of the third intracellular loop react specifically in Western blotting with a single band of 98–102 kDa in hemocyte protein extracts. Immunostaining performed on circulating hemocytes with the three specific Abs revealed that CiC3aR is constitutively expressed only in hyaline and granular amoebocytes. In chemotaxis experiments, the Abs against the first and second extracellular loop inhibited directional migration of hemocytes toward the synthetic peptide reproducing the CiC3a C-terminal sequence, thus providing the compelling evidence that C. intestinalis expresses a functional C3aR homologous to the mammalian receptor. These findings further elucidate the evolutionary origin of the vertebrate complement-mediated proinflammatory process

Promoting occupational health through gamification and e-coaching: A 5-month user engagement study

Social gamification systems have shown potential for promoting healthy lifestyles, but applying them to occupational settings faces unique design challenges. While occupational settings offer natural communities for social interaction, fairness issues due to heterogeneous personal goals and privacy concerns increase the difficulty of designing engaging games. We explored a two-level game-design, where the first level related to achieving personal goals and the second level was a privacy-protected social competition to maximize goal compliance among colleagues. The solution was strengthened by employing occupational physicians who personalized users’ goals and coached them remotely. The design was evaluated in a 5-month study with 53 employees from a Dutch university. Results suggested that the application helped half of the participants to improve their lifestyles, and most appreciated the role of the physician in goal-setting. However, long-term user engagement was undermined by the scalability-motivated design choice of one-way communication between employees and their physician. Implications for social gamification design in occupational health are discussed

Emotion classification in Parkinson's disease by higher-order spectra and power spectrum features using EEG signals: A comparative study

Deficits in the ability to process emotions characterize several neuropsychiatric disorders and are traits of Parkinson's disease (PD), and there is need for a method of quantifying emotion, which is currently performed by clinical diagnosis. Electroencephalogram (EEG) signals, being an activity of central nervous system (CNS), can reflect the underlying true emotional state of a person. This study applied machine-learning algorithms to categorize EEG emotional states in PD patients that would classify six basic emotions (happiness and sadness, fear, anger, surprise and disgust) in comparison with healthy controls (HC). Emotional EEG data were recorded from 20 PD patients and 20 healthy age-, education level- and sex-matched controls using multimodal (audio-visual) stimuli. The use of nonlinear features motivated by the higher-order spectra (HOS) has been reported to be a promising approach to classify the emotional states. In this work, we made the comparative study of the performance of k-nearest neighbor (kNN) and support vector machine (SVM) classifiers using the features derived from HOS and from the power spectrum. Analysis of variance (ANOVA) showed that power spectrum and HOS based features were statistically significant among the six emotional states (p < 0.0001). Classification results shows that using the selected HOS based features instead of power spectrum based features provided comparatively better accuracy for all the six classes with an overall accuracy of 70.10% ± 2.83% and 77.29% ± 1.73% for PD patients and HC in beta (13-30 Hz) band using SVM classifier. Besides, PD patients achieved less accuracy in the processing of negative emotions (sadness, fear, anger and disgust) than in processing of positive emotions (happiness, surprise) compared with HC. These results demonstrate the effectiveness of applying machine learning techniques to the classification of emotional states in PD patients in a user independent manner using EEG signals. The accuracy of the system can be improved by investigating the other HOS based features. This study might lead to a practical system for noninvasive assessment of the emotional impairments associated with neurological disorders

Evaluation of Donor and Recipient Characteristics Involved in Descemet Stripping Automated Endothelial Keratoplasty Outcomes

Aims: To evaluate both donor and recipient features involved in visual acuity restoring and complication insurgence in eyes that have undergone Descemet stripping automated endothelial keratoplasty (DSAEK). Methods: In this retrospective study, charts of 111 eyes of 96 patients (mean age 70.25 ± 8.58 years) that underwent DSAEK were evaluated. Only Fuch's Distrophy (FD) or Bullous Keratopathy (BK) due to cataract surgery eyes were included. A complete ophthalmic check with endothelial cell density (ECD) and central corneal thickness (CCT) measurement was performed before surgery and at 1, 3, 6, and 12 months follow-up. Each DSAEK was performed by the same well-trained surgeon; only pre-cut lenticules, provided by same Eye Bank, were implanted. Results: A total of 48 (43%) complications have been observed (most of them were 22 partial graft detachments and 17 IOP spikes). At the last follow-up (mean: 8.58 ± 4.09 months), a significant increase (p &lt; 0.05) of best corrected visual acuity (BCVA) was detected. Overall mean BCVA of the eyes evaluated was 0.40 ± 0.43 LogMAR with BK eyes showing a significantly higher improvement (p &lt; 0.05) compared to FD eyes. The only factor showing a significant correlation (p &lt; 0.05) with visual acuity enhancement was the implant of a lenticule thinner than 100 μm. Recipient features significantly (p &lt; 0.05) associated with complications observed after surgery were glaucoma and diabetes mellitus. Conclusion: The use of a graft thinner than 100 μm can provide better visual acuity recovery while recipients affected by glaucoma or diabetes mellitus are more prone to develop complications after surgery

FOOD SAFETY AND PROCESS HYGIENE CRITERIONS ON SHEEP CARCASSES

The hygienic status and the presence of some pathogens (Staphylococcus aureus, Listeria monocytogenes e Salmonella spp.) at slaughterhouses was evaluated in different matrix of sheep and lambs (carcass surface, faeces, fleeces and mesenteric lymph nodes) according to the Com. Reg. (EC) No 2073/2005. The 48% of sheep and 68.9% of lamb sampled carcasses resulted allocated into the marginal category for Aerobic colony count, while the 28% and 42.2% respectively were allocated into unacceptable category for Enterobacteriaceae. S.aureus was isolated more frequently in fleeces (11.5%), carcasses (12.6%) of lambs than sheep. L. monocytogenes was found in fleeces and carcass of two sheep and in faeces of four lambs, while Salmonella spp. was detected only in sheep carcasses of a single plant

Heart rate variability and target organ damage in hypertensive patients

Background: We evaluated the association between linear standard Heart Rate Variability (HRV) measures and vascular, renal and cardiac target organ damage (TOD). Methods: A retrospective analysis was performed including 200 patients registered in the Regione Campania network (aged 62.4 ± 12, male 64%). HRV analysis was performed by 24-h holter ECG. Renal damage was assessed by estimated glomerular filtration rate (eGFR), vascular damage by carotid intima-media thickness (IMT), and cardiac damage by left ventricular mass index. Results: Significantly lower values of the ratio of low to high frequency power (LF/HF) were found in the patients with moderate or severe eGFR (p-value < 0.001). Similarly, depressed values of indexes of the overall autonomic modulation on heart were found in patients with plaque compared to those with a normal IMT (p-value <0.05). These associations remained significant after adjustment for other factors known to contribute to the development of target organ damage, such as age. Moreover, depressed LF/HF was found also in patients with left ventricular hypertrophy but this association was not significant after adjustment for other factors. Conclusions: Depressed HRV appeared to be associated with vascular and renal TOD, suggesting the involvement of autonomic imbalance in the TOD. However, as the mechanisms by which abnormal autonomic balance may lead to TOD, and, particularly, to renal organ damage are not clearly known, further prospective studies with longitudinal design are needed to determine the association between HRV and the development of TOD

Classification tree to analyze factors connected with post operative complications of cataract surgery in a teaching hospital

Background: Artificial intelligence (AI) is becoming ever more frequently applied in medicine and, consequently, also in ophthalmology to improve both the quality of work for physicians and the quality of care for patients. The aim of this study is to use AI, in particular classification tree, for the evaluation of both ocular and systemic features involved in the onset of complications due to cataract surgery in a teaching hospital. Methods: The charts of 1392 eyes of 1392 patients, with a mean age of 71.3 ± 8.2 years old, were reviewed to collect the ocular and systemic data before, during and after cataract surgery, including post-operative complications. All these data were processed by a classification tree algorithm, producing more than 260 million simulations, aiming to develop a predictive model. Results: Postoperative complications were observed in 168 patients. According to the AI analysis, the pre-operative characteristics involved in the insurgence of complications were: ocular comorbidities, lower visual acuity, higher astigmatism and intra-operative complications. Conclusions: Artificial intelligence application may be an interesting tool in the physician’s hands to develop customized algorithms that can, in advance, define the post-operative complication risk. This may help in improving both the quality and the outcomes of the surgery as well as in preventing patient dissatisfaction