A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

BACKGROUND: The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onset of growth retardation, while gains of the same chromosomal region result in a more variable degree of intellectual deficit and dysmorphism. Similarly the phenotype of individuals with terminal deletions of distal chromosome 3p (3p deletion syndrome) varies from mild to severe intellectual deficit, micro- and trigonocephaly, and a distinct facial appearance.METHODS AND RESULTS: We investigated a large Indian five-generation pedigree with ten affected family members in which chromosomal microarray and fluorescence in situ hybridization analyses disclosed a complex rearrangement involving chromosomal subregions 4p16.1 and 3p26.3 resulting in a 4p16.1 deletion and 3p26.3 microduplication in three individuals, and a 4p16.1 duplication and 3p26.3 microdeletion in seven individuals. A typical clinical presentation of WHS was observed in all three cases with 4p16.1 deletion and 3p26.3 microduplication. Individuals with a 4p16.1 duplication and 3p26.3 microdeletion demonstrated a range of clinical features including typical 3p microdeletion or 4p partial trisomy syndrome to more severe neurodevelopmental delay with distinct dysmorphic features.CONCLUSION: We present the largest pedigree with complex t(4p;3p) chromosomal rearrangements and diverse clinical outcomes including Wolf Hirschorn-, 3p deletion-, and 4p duplication syndrome amongst affected individuals.<br/

“Izumi” Bijeloga Viteza: kreativnost i “inventivnost” u romanu Through the Looking-Glass

The figure of the White Knight in Lewis Carroll’s Through the Looking-Glass has often been read as part of a tradition of “nonsense literature”. While this is true, I wish to extend that argument and locate the figure of the White Knight in the context of the debates around the Patent Law of 1852. While defining and recognising the role of mechanical labour, the role and function of artistic labour also featured in these debates. The White Knight’s “inventions” are deeply resonant with these debates and prompt us to ask: what is the role of the artist in an industrial society? How can art retain its autonomy and justify itself when confronted with the pervasive discourse of utilitarianism? This paper argues that the anxiety around the role of the artist is palpable in the figure of the White Knight, and through him Carroll enunciates what may be read as his intervention in this debate.Figura Bijeloga Viteza u djelu Što je Alica otkrila iza zrcala Lewisa Carrolla često se interpretira u obzoru tradicije „nonsensne književnosti“. To je prikladno, no namjera je ovoga rada proširiti tu argumentaciju i smjestiti lik Bijeloga Viteza u kontekst rasprava o Zakonu o patentima iz 1852. godine. One određuju i prepoznaju ulogu mehaničkoga rada, ali se također dotiču uloge i funkcije umjetničkoga rada. „Izumi“ Bijeloga Viteza dubinski su povezani s tim raspravama te nas vode k pitanju: koja je uloga umjetnika u industrijskom društvu? Kako umjetnost može zadržati autonomiju i opravdati se kad se suočava sa sveprisutnim diskursom utilitarizma? Ovaj članak pokazuje da je anksioznost koja se povezuje s ulogom umjetnika upravo opipljiva u liku Bijeloga Viteza te da Carroll kroz taj lik artikulira stajalište koje se može tumačiti kao njegov prinos spomenutoj raspravi

The role of organizational culture in Christian organizations for job satisfaction and staff retention with special reference to Bharat Susamachar Samiti

https://place.asburyseminary.edu/ecommonsatsdissertations/2435/thumbnail.jp

Brain Cooling and Cleaning: A New Perspective in Cerebrospinal Fluid (CSF) Dynamics

The function of the cerebrospinal fluid (CSF) has long been considered for mechanical protection and recently attributed to the supply of nutrients to the brain. However, we hypothesize that the brain is a water-cooled and water-cleaned system. Recent studies on the glymphatic pathways and the introduction of cisternostomy as a surgical procedure for traumatic brain injury reveal a vast and in-depth functionality of the CSF, which works in synchrony with the cardiopulmonary rhythms to act as a buffer for optimum cerebral function. The nasal sinuses are located around the suprasellar cistern, and the evaporating wet mucosa within them during the breathing contributes to local cooling, whereas the nocturnal activation of AQP4 channels allows CSF-ISF exchange. The resultant “cooling and cleaning” of the brain not only maintains a physiological equilibrium but also opens doors for understanding and treating pathophysiology underlying common degenerative and neuro-inflammatory diseases. This chapter describes the novel theory of brain cooling and cleaning and the clinical and experimental evidence to support this hypothesis

NEUROPSYCHIATRIC ADVERSE EFFECTS OF ANTIBACTERIAL AGENTS

Anti-bacterial are agents that inhibit bacterial growth or kills bacteria and are a sub-type of antimicrobials. These are drugs used to treat infections, but they sometimes pose a threat of adverse events. Some of these adverse events are neuropsychiatric, which are generally hard to diagnose and is often paid less attention. They account for about 30% of total Adverse drug reactions (ADRs) caused by drugs in patients without mental abnormalities. The spectrum ranges from episodes of seizure to acute psychosis. The article emphasizes the frequency of such adverse events and means to raise awareness among medical practitioners regarding the same. The various neuropsychiatric adverse effects and the agents responsible have been reviewed, along with their possible mechanisms and general management. The information for writing this review was selected by searching for keywords such as Neurotoxicity, GABA, Psychosis, Naranjo scale, and Antibiomania in databases such as Google Scholar, PubMed, Elsevier, etc. After searching the articles in the above-mentioned databases, the articles were screened concerning their importance with our work and according to their title and abstract. Additional articles were discovered by checking the references in the current study's citations. Using this method, the various neuropsychiatric adverse effects of Antibacterial agents were summarized in this review