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Out of the real : Tham & Videgård Arkitekter
In their designs, Tham and Videgård take as their starting points the Nordic tradition - closeness to nature and economy of means - as well as the concrete parameters of the project on which they are working - the result, however, is buildings with surprising and fascinating forms.
Book
Mesoporous SBA-15@n-Pr-THAM-ZrO organic–inorganic hybrid: as a highly efficient reusable nanocatalyst for the synthesis of polyhydroquinolines and 2,3-dihydroquinazolin-4 (1h)-ones
In this work, tris(hydroxymethyl)aminomethane-Zirconium complex supported on modified SBA-15 (SBA-15@n-Pr-THMAM-ZrO) prepared as a novel mesoporous catalyst. The structure of this porous compound was characterized by XRD, nitroge adsorption–desorption, TEM, TGA, EDS, ICP, X-ray mapping, and SEM techniques. The catalytic activity of SBA-15@n-Pr-THMAM-Zr has been investigated for the multicomponent synthesis of polyhydroquinoline and 2,3-dihydroquinazolin-4(1H)-one derivaives.
Journal Article
Fe3O4@SiO2–Pr–THAM–(OSO3H)3: a novel magnetically separable catalyst for the synthesis of 4H-chromenes and their antioxidant and antibacterial study
The present research delineates the synthesis and catalytic assessment of a novel Fe
3
O
4
@SiO
2
–Pr–THAM–(OSO
3
H)
3
magnetic nanoparticles. The structural conformation of as-prepared Fe
3
O
4
@SiO
2
–Pr–THAM–(OSO
3
H)
3
nanoparticles was evaluated using numerous analytical methods like Fourier transform infrared spectroscopy (FT-IR), energy-dispersive X-ray spectroscopy, X-ray diffraction, transmission electron microscopy, vibrating sample magnetometry, thermogravimetric analysis. The catalytic potential of Fe
3
O
4
@SiO
2
–Pr–THAM–(OSO
3
H)
3
was tested for the syntheses of 4
H
-chromenes through one-pot condensation of 2-hydroxybenzaldehyde, cyclic 1,3-diketones, and 4-hydroxycoumarin in aqueous solution at 50 °C. The current methodology offers the benefits of superior catalytic activity, the utilization of environmentally friendly solvents, easy work-up procedure, excellent yield, magnetic separation, shorter reaction times, and catalyst reusability with no significant loss in potency after six cycles. The synthesized 4
H
-chromene derivatives were screened for antibacterial and in vitro antioxidant study and were found to have promising activities supported by molecular docking studies.
Graphical abstract
Journal Article
Diagnosis of Arboleda‐Tham syndrome by whole‐exome sequencing in an Asian girl with severe developmental delay
Objective This study aims to report a severe phenotype of Arboleda‐Tham syndrome in a 20‐month‐old girl, characterized by global developmental delay, distinct facial features, intellectual disability. Arboleda‐Tham syndrome is known for its wide phenotypic spectrum and is associated with truncating variants in the KAT6A gene. Methods To diagnose this case, a combination of clinical phenotype assessment and whole‐exome sequencing technology was employed. The genetic analysis involved whole‐exome sequencing, followed by confirmation of the identified variant through Sanger sequencing. Results The whole‐exome sequencing revealed a novel de novo frameshift mutation c.3048del (p.Leu1017Serfs*17) in the KAT6A gene, which is classified as likely pathogenic. This mutation was not found in the ClinVar and HGMD databases and was not present in her parents. The mutation leads to protein truncation or activation of nonsense‐mediated mRNA degradation. The mutation is located within exon 16, potentially leading to protein truncation or activation of nonsense‐mediated mRNA degradation. Protein modeling suggested that the de novo KAT6A mutation might alter hydrogen bonding and reduce protein stability, potentially damaging the protein structure and function. Conclusion This study expands the understanding of the genetic basis of Arboleda‐Tham syndrome, highlighting the importance of whole‐exome sequencing in diagnosing cases with varied clinical presentations. The discovery of the novel KAT6A mutation adds to the spectrum of known pathogenic variants and underscores the significance of this gene in the syndrome's pathology. Deciphering the pathogenic landscape: Novel frameshift mutation in KAT6A gene.
Journal Article
Reaction of KHP with excess NaOH or TRIS as standard reactions for calibration of titration calorimeters from 0 to 60 °C
Calibration of titration calorimeters is an ongoing problem, particularly with calorimeters with reaction vessel volumes < 10 mL in which an electrical calibration heater is positioned outside the calorimetric vessel. Consequently, a chemical reaction with a known enthalpy change must be used to accurately calibrate these calorimeters. This work proposes the use of standard solutions of potassium acid phthalate (KHP) titrated into solutions of excess sodium hydroxide (NaOH) or excess tris(hydroxymethyl)aminomethane (TRIS) as standard reactions to determine the collective accuracy of the relevant variables in a determination of the molar enthalpy change for a reaction. KHP is readily available in high purity, weighable for easy preparation of solutions with accurately known concentrations, stable in solution, not compromised by side reactions with common contaminants such as atmospheric CO
2
, and non-corrosive to materials used in calorimeter construction. Molar enthalpy changes for these reactions were calculated from 0 to 60 °C from reliable literature data for the p
K
a
of KHP, the molar enthalpy change for protonation of TRIS, and the molar enthalpy change for ionization of water. The feasibility of using these reactions as enthalpic standards was tested in several calorimeters; a 50 mL CSC 4300, a 185 μL NanoITC, a 1.4 mL VP-ITC, and a TAM III with 1 mL reaction vessels. The results from the 50 mL CSC 4300, which was accurately calibrated with an electric heater, verified the accuracy of the calculated standard values for the molar enthalpy changes of the proposed reactions.
Journal Article
DMRscaler: a scale-aware method to identify regions of differential DNA methylation spanning basepair to multi-megabase features
Background
Pathogenic mutations in genes that control chromatin function have been implicated in rare genetic syndromes. These chromatin modifiers exhibit extraordinary diversity in the scale of the epigenetic changes they affect, from single basepair modifications by DNMT1 to whole genome structural changes by PRM1/2. Patterns of DNA methylation are related to a diverse set of epigenetic features across this full range of epigenetic scale, making DNA methylation valuable for mapping regions of general epigenetic dysregulation. However, existing methods are unable to accurately identify regions of differential methylation across this full range of epigenetic scale directly from DNA methylation data.
Results
To address this, we developed DMRscaler, a novel method that uses an iterative windowing procedure to capture regions of differential DNA methylation (DMRs) ranging in size from single basepairs to whole chromosomes. We benchmarked
DMRscaler
against several DMR callers in simulated and natural data comparing XX and XY peripheral blood samples.
DMRscaler
was the only method that accurately called DMRs ranging in size from 100 bp to 1 Mb (pearson's r = 0.94) and up to 152 Mb on the X-chromosome. We then analyzed methylation data from rare-disease cohorts that harbor chromatin modifier gene mutations in
NSD1
,
EZH2
, and
KAT6A
where
DMRscaler
identified novel DMRs spanning gene clusters involved in development.
Conclusion
Taken together, our results show DMRscaler is uniquely able to capture the size of DMR features across the full range of epigenetic scale and identify novel, co-regulated regions that drive epigenetic dysregulation in human disease.
Journal Article
Who Wrote This?
Would you read this book if a computer wrote it? Would you even know? And why would it matter?
Today's eerily impressive artificial intelligence writing tools present us with a crucial challenge: As writers, do we unthinkingly adopt AI's time-saving advantages or do we stop to weigh what we gain and lose when heeding its siren call? To understand how AI is redefining what it means to write and think, linguist and educator Naomi S. Baron leads us on a journey connecting the dots between human literacy and today's technology. From nineteenth-century lessons in composition, to mathematician Alan Turing's work creating a machine for deciphering war-time messages, to contemporary engines like ChatGPT, Baron gives readers a spirited overview of the emergence of both literacy and AI, and a glimpse of their possible future. As the technology becomes increasingly sophisticated and fluent, it's tempting to take the easy way out and let AI do the work for us. Baron cautions that such efficiency isn't always in our interest. As AI plies us with suggestions or full-blown text, we risk losing not just our technical skills but the power of writing as a springboard for personal reflection and unique expression.
Funny, informed, and conversational, Who Wrote This? urges us as individuals and as communities to make conscious choices about the extent to which we collaborate with AI. The technology is here to stay. Baron shows us how to work with AI and how to spot where it risks diminishing the valuable cognitive and social benefits of being literate.
eBook
Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review
Background
Arboleda-Tham syndrome (ARTHS), caused by a pathogenic variant of
KAT6A
, is an autosomal dominant inherited genetic disorder characterized by various degrees of developmental delay, dysmorphic facial appearance, cardiac anomalies, and gastrointestinal problems.
Case presentation
A baby presented multiple facial deformities including a high arched and cleft palate, with philtral ridge and vermilion indentation, a prominent nasal bridge, a thin upper lip, low-set ears, an epicanthal fold, and cardiac malformations. Whole exome sequencing (WES) revealed a heterozygous nonsense mutation in exon 8 of the
KAT6A
gene (c.1312C>T, p.[Arg438*]) at 2 months of age. After a diagnosis of ARTHS, an expressive language delay was observed during serial assessments of developmental milestones.
Conclusions
In this study, we describe a case with a novel
KAT6A
variant first identified in Korea. This case broadens the scope of clinical features of ARTHS and emphasizes that WES is necessary for early diagnosis in patients with dysmorphic facial appearances, developmental delay, and other congenital abnormalities.
Journal Article
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis
Pathogenic variants in genes are involved in histone acetylation and deacetylation resulting in congenital anomalies, with most patients displaying a neurodevelopmental disorder and dysmorphism. Arboleda-Tham syndrome caused by pathogenic variants in KAT6A (Lysine Acetyltransferase 6A; OMIM 601408) has been recently described as a new neurodevelopmental disorder. Herein, we describe a patient characterized by complex phenotype subsequently diagnosed using the clinical exome sequencing (CES) with Arboleda-Tham syndrome (ARTHS; OMIM 616268). The analysis revealed the presence of de novo pathogenic variant in KAT6A gene, a nucleotide c.3385C>T substitution that introduces a premature termination codon (p.Arg1129*). The need for straight multidisciplinary collaboration and accurate clinical description findings (bowel obstruction/megacolon/intestinal malrotation) was emphasized, together with the utility of CES in establishing an etiological basis in clinical and genetical heterogeneous conditions. Therefore, considering the phenotypic characteristics, the condition’s rarity and the reviewed literature, we propose additional diagnostic criteria that could help in the development of future clinical diagnostic guidelines. This was possible thanks to objective examinations performed during the long follow-up period, which permitted scrupulous registration of phenotypic changes over time to further assess this rare disorder. Finally, given that different genetic syndromes are associated with distinct genomic DNA methylation patterns used for diagnostic testing and/or as biomarker of disease, a specific episignature for ARTHS has been identified.
Journal Article
Not Here, Not Now: Remaking Singapore's Chinese Diaspora in The Inlet
Through an examination of characters' relationships and encounters in Claire Tham's novel The Inlet (2013), I argue that state narratives of racial identity and national progress may dislocate Singaporean Chinese subjects from a sense of homeliness by engendering nostalgia for an uncertainly located cultural hinterland. My analysis, which addresses the heterogeneity of class and linguistic identities among these subjects, corrects the common misidentification of the Chinese in Singapore as de facto members of a universal Chinese diaspora. Instead, my reading grounds characters in the homeland of Singapore but explores their attitudes toward social and spatial elements that produce a feeling of cultural alienation and challenge their sense of national belonging. In this way, I assert that the pressure to constantly reinvent themselves can unmoor Singaporean Chinese from their psychic and physical landscape, especially amid recent immigration from China as well as historical and ongoing urban redevelopment. This process of reinvention leads to a nostalgic yet anxious subjectivity that characters—and critics—may confuse with belonging to a global Chinese diaspora.
Journal Article