The rapidly increasing number of cases of Zika virus and limited understanding of its congenital sequelae (e.g., microcephaly) led to stories of fear and uncertainty across social media and other mass communication networks. In this study, we used techniques generic to netnography, a form of ethnography, using Internet‐based computer‐mediated communications as a source of data to understand the experience and perceptions of families with infants diagnosed with Zika‐related microcephaly. We screened 27 YouTube™ videos published online between October 2015 (...) and July 2016, during which the Zika epidemic started, peaked, and declined. We identified three themes: (a) experiencing the news of a diagnosis of Zika‐associated microcephaly; (b) experiencing feelings and expectations of the ‘imperfect’ child; and (c) seeking to understand microcephaly to care for the child. We found that families experienced distressing feelings of shock, sadness, hopelessness, and pain, while dealing with emerging and sometimes conflicting information being transmitted by news outlets, uncertainty about the child's health, and healthcare providers’ lack of clarity to guide the family members. The ‘unknown’ factor of ZIKA was an additional stressful factor in the experience of the families. (shrink)

New targets for brain tumor therapies may be identified by mutations that cause hereditary microcephaly. Brain growth depends on the repeated proliferation of stem and progenitor cells. Microcephaly syndromes result from mutations that specifically impair the ability of brain progenitor or stem cells to proliferate, by inducing either premature differentiation or apoptosis. Brain tumors that derive from brain progenitor or stem cells may share many of the specific requirements of their cells of origin. These tumors may therefore be (...) susceptible to disruptions of the protein products of genes that are mutated in microcephaly. The potential for the products of microcephaly genes to be therapeutic targets in brain tumors are highlighted hereby reviewing research on EG5, KIF14, ASPM, CDK6, and ATR. Treatments that disrupt these proteins may open new avenues for brain tumor therapy that have increased efficacy and decreased toxicity. -/- . (shrink)

Monsters as a category seem omnipresent in early modern natural philosophy, in what one might call a “long” early modern period stretching from the Renaissance to the late eighteenth century, when the science of teratology emerges. We no longer use this term to refer to developmental anomalies (whether a two-headed calf, an individual suffering from microcephaly or Proteus syndrome) or to “freak occurrences” like Mary Toft’s supposedly giving birth to a litter of rabbits, in Surrey in the early eighteenth-century (...) (Todd 1995). But the term itself has a rich semantic history, coming from the Latin verb monstrare (itself deriving from monere, to remind, warn, advise), “to show,” from which we also get words like “monitor,” “admonish,” “monument” and “premonition”; hence there are proverbs like, in French, le monstre est ce qui montre, difficult to render in English: “the monsters is that which shows.” Scholars have discussed how this “monstrative” dimension of the monster is in fact twofold: on the one hand, and most awkwardly, the monster is an individual who is “pointed at,” who is shown; on the other hand, the monster is a sign, a portent, an omen, and in that sense “shows us” something (on the complex semantic history of the term across Indo-European languages see Ochsner 2005). The latter dimension persists in naturalized form in the early modern period when authors like Bacon, Fontenelle or William Hunter insist that monsters (or anomalies) can show us something of the workings of Nature. (shrink)

The philosopher Ludwig Wittgenstein chose as his prime exemplar of certainty the fact that the skulls of normal people are filled with neural tissue, not sawdust. In 1980 the British pediatrician John Lorber reported that some normal adults, apparently cured of childhood hydrocephaly, had no more than 5 % of the volume of normal brain tissue. While initially disbelieved, Lorber’s observations have since been independently confirmed by clinicians in France and Brazil. Thus Wittgenstein’s certainty has become uncertain. Furthermore, the paradox (...) that the human brain’s information content appears to exceed the storage capacity of even normal-sized brains, requires resolution. This article is one of a series on disparities between brain size and its assumed information content, as seen in cases of savant syndrome, microcephaly, and hydrocephaly, and with special reference to the Victorian era views of Conan Doyle, Samuel Butler, and Darwin’s research associate, George Romanes. The articles argue that, albeit unlikely, the scope of explanations must not exclude extracorporeal information storage. (shrink)

Zika virus infection in a pregnant woman may cause severe brain malformations and other birth defects in her child, and women living in or traveling to areas where it is endemic are urged to postpone pregnancy. Do the dangers posed by microcephaly justify the use of contraceptives under the principle of double effect? The author discusses ambiguities in Humanae vitae n. 14 and the claim that the use of contraceptives was approved by Pope Paul VI for nuns at risk (...) of rape, and uses the principle of double effect to show that the answer to this question is no: the use of the anovulant pill by married couples for the purpose of preventing conception of a microcephalic child cannot be licit. (shrink)

Transfer RNAs (tRNAs) represent the most abundant class of RNA molecules in the cell and are key players during protein synthesis and cellular homeostasis. Aberrations in the extensive tRNA biogenesis pathways lead to severe neurological disorders in humans. Mutations in the tRNA splicing endonuclease (TSEN) and its associated RNA kinase cleavage factor polyribonucleotide kinase subunit 1 (CLP1) cause pontocerebellar hypoplasia (PCH), a heterogeneous group of neurodegenerative disorders, that manifest as underdevelopment of specific brain regions typically accompanied by microcephaly, profound (...) motor impairments, and child mortality. Recently, we demonstrated that mutations leading to specific PCH subtypes destabilize TSEN in vitro and cause imbalances of immature to mature tRNA ratios in patient‐derived cells. However, how tRNA processing defects translate to disease on a systems level has not been understood. Recent findings suggested that other cellular processes may be affected by mutations in TSEN/CLP1 and obscure the molecular mechanisms of PCH emergence. Here, we review PCH disease models linked to the TSEN/CLP1 machinery and discuss future directions to study neuropathogenesis. (shrink)

Zika infection in pregnant women is associated with an elevated probability of giving birth to a child with microcephaly and multiple other disabilities. Public health messaging on Zika prevention has predominantly targeted women who know they are pregnant or intend to become pregnant, but not teenage females for whom unintended pregnancy is more likely. Vulnerabilities among this population to reproductive risks associated with Zika are further amplified by restrictive abortion laws in several Zika-impacted states. Key to prevention is enhanced, (...) targeted public health messaging centered on teens nationally and particularly in certain high-risk regions. (shrink)

Much of the fear and uncertainty around Zika epidemics stem from potential association between Zika virus complications on infected pregnant women and risk of their babies being born with microcephaly and other neurological abnormalities. However, much remains unknown about its mode of transmission, diagnosis and long-term pathogenesis. Worries of these unknowns necessitate the need for effective and efficient psychosocial programs and medical-legal strategies to alleviate and mitigate ZIKV related burdens. In this light, local and global efforts in maintaining fundamental (...) health principles of moral, medical and legal decision-making policies, and interventions to preserve and promote individual and collectiveHuman Rights, autonomy, protection of the most vulnerable, equity, dignity, integrity and beneficence that should not be confused and relegated by compassionate humanitarian assistance and support. This paper explores the potential medical and ethical-legal implications of ZIKV epidemics emergency response packages and strategies alongside optimizing reproductive and mental health policies, programs and best practice measures. Further long-term cross-borders operational research is required in elucidating Zika-related population-based epidemiology, ethical-medical and societal implications in guiding evidence-based local and global ZIKV maternal-child health complications related approaches and interventions. Core programs and interventions including future Zika safe and effective vaccines for global Zika immunization program in most vulnerable and affected countries and worldwide should be prioritized. (shrink)

Much of the fear and uncertainty around Zika epidemics stem from potential association between Zika virus complications on infected pregnant women and risk of their babies being born with microcephaly and other neurological abnormalities. However, much remains unknown about its mode of transmission, diagnosis and long-term pathogenesis. Worries of these unknowns necessitate the need for effective and efficient psychosocial programs and medical-legal strategies to alleviate and mitigate ZIKV related burdens. In this light, local and global efforts in maintaining fundamental (...) health principles of moral, medical and legal decision-making policies, and interventions to preserve and promote individual and collectiveHuman Rights, autonomy, protection of the most vulnerable, equity, dignity, integrity and beneficence that should not be confused and relegated by compassionate humanitarian assistance and support. This paper explores the potential medical and ethical-legal implications of ZIKV epidemics emergency response packages and strategies alongside optimizing reproductive and mental health policies, programs and best practice measures. Further long-term cross-borders operational research is required in elucidating Zika-related population-based epidemiology, ethical-medical and societal implications in guiding evidence-based local and global ZIKV maternal-child health complications related approaches and interventions. Core programs and interventions including future Zika safe and effective vaccines for global Zika immunization program in most vulnerable and affected countries and worldwide should be prioritized. (shrink)

Recent developments in 3D cultures exploiting the self‐organization ability of pluripotent stem cells have enabled the generation of powerful in vitro systems termed brain organoids. These 3D tissues recapitulate many aspects of human brain development and disorders occurring in vivo. When combined with improved differentiation methods, these in vitro systems allow the generation of more complex “assembloids,” which are able to reveal cell diversities, microcircuits, and cell–cell interactions within their 3D organization. Here, the ways in which human brain organoids have (...) contributed to demystifying the complexities of brain development and modeling of developmental disorders is reviewed and discussed. Furthermore, challenging questions that are yet to be addressed by emerging brain organoid research are discussed. (shrink)