38 research outputs found
Novel pathogenic variant in TGFBR2 confirmed by molecular modeling is a rare cause of Loeys-Dietz syndrome
Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings. We report a case of a novel pathogenic variant in TGFBR2 and phenotype consistent with classic LDS. The proband was a 10-year-old presenting to the genetics clinic with an enlarged aortic root (Z-scores 5-6), pectus excavatum, and congenital contractures of the right 2nd and 3rd digit. Molecular testing of TGFBR2 was sent to a commercial laboratory and demonstrated a novel, likely pathogenic, variant in exon 4, c.1061T>C, p.(L354P). Molecular modeling reveals alteration of local protein structure as a result of this pathogenic variant. This pathogenic variant has not been previously reported in LDS and thus expands the pathogenic variant spectrum of this condition
Forgetfulness without memory: Reconstruction, Landscape and the Politics of Everyday in Post-Earthquake Gujarat, India
For many good reasons, after natural disasters it is common to work with ‘memory’ as part of a collective catharsis and a globalized humanitarian logic. Long‐term anthropological research on the aftermath of the 2001 earthquake in Gujarat, however, also demonstrates the significance of forgetting in local practice. Immediately after the disaster, people vowed to abandon the sites of their loss, leave the ruins as monuments, and rebuild anew on safer ground. In time, though, life returned to the ruins as the terrible proximity of death receded, as memories and new salience were shaped by acts of reconstruction. The article explores some of the political and social factors that make this form of forgetting possible – or even necessary. Evidence of earlier earthquakes in the same region indicates that such ‘forgetting’ has an established history. Together, ethnographic and archival materials combine to cast doubt over the emphasis on ‘remembering’ as the only ‘memory solution’ to suffering
Transposing tirtha: Understanding religious reforms and locative piety in early modern Hinduism
The paper deals with a historical and hitherto obscure case of de-commercialisation of sacred geography of India. Sahajanand Swami, an eighteenth century religious leader from Gujarat who became popular as Bhagwan Swaminarayan took an initiative to eliminate corruption in Dwarka, one of the most sacred destination in Hindu imagination. He also attempted to transpose the piety of Dwarka and recreate a parallel religious experience at Vadtal, an important site in Swaminarayan Hinduism. This process of making sacred sites more egalitarian is classified here as a 'religious reform'. The paper assesses this bivalent pursuit as an institutional reform within religion as well as a religious process in the context of piety, authority and orthodoxy. Through the example of Sahajanand Swami, it is argued to calibrate the colonial paradigm of reform that was largely contextual to social issues and western thought and failed to appreciate the religious reforms of that era. By constructing a nuanced typology of 'religious reform' distinct from 'social reforms', the paper eventually calls for a reassessment of religious figures who have significantly contributed in reforming the Hindu tradition in the medieval and modern era
Historical, Geographical and Statistical Memoirs of the Province of Kattywar and on the Districts of Babriawar and Okhamundul, also a report on the Iron of Kattywar (Selections from the records of the Bombay Government. No XXXVII – New Series)
Recommended from our members
Evaluation of segmented gamma scanner measurements on cans of recoverable scrap
Savannah River Site (SRS) has had a long-standing concern about the inability to measure recoverable scrap. A segmented gamma scanner (SGS) was evaluated for use in measuring cans of scrap materials. Four scrap cans were selected and re-packaged into containers that could be measured using calorimetry and gamma spectrometry. These scrap cans were later used as working standards for the SGS. In addition, replicate measurements were made on all cans of scrap currently stored with estimated values. Before accepting the SGS measurements on the cans, data from the replicate measurements of the standards and a limited number of process cans were analyzed to determine if there was a significant bias between the SGS and the calorimeter-gamma spectrometer measurements, if the random replication error would be acceptable for accountability, to set control limits for the workings standards, and to determine acceptable differences between replicate measurements. After completing the measurement of all process scrap cans in the inventory, the the final data were analyzed and estimates based on the two sets of data compared. The methodology used to determine the appropriate measurement error model, to estimate the measurement errors, to set control limits, and to determine the significance of the bias will be described as well as a comparison of the error estimates based on the preliminary versus final data
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome
Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings. We report a case of a novel pathogenic variant in TGFBR2 and phenotype consistent with classic LDS. The proband was a 10-year-old presenting to the genetics clinic with an enlarged aortic root (Z-scores 5-6), pectus excavatum, and congenital contractures of the right 2nd and 3rd digit. Molecular testing of TGFBR2 was sent to a commercial laboratory and demonstrated a novel, likely pathogenic, variant in exon 4, c.1061T>C, p.(L354P). Molecular modeling reveals alteration of local protein structure as a result of this pathogenic variant. This pathogenic variant has not been previously reported in LDS and thus expands the pathogenic variant spectrum of this condition
Recommended from our members
Development of in-line plutonium solution NDA instrumentation at the Savannah River Plant
A K-absorption-edge plutonium solution densitometer has been developed by the Los Alamos Scientific Laboratory for in-line test and evaluation in the process line at the Savannah River Plant. The design features of the measurement system, the measurement principles, and performance data are presented