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"Everett, Judith C"
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Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
Objective Titin gene (TTN) mutations have been described in eight families with hereditary myopathy with early respiratory failure (HMERF). Some of the original patients had features resembling myofibrillar myopathy (MFM), arguing that TTN mutations could be a much more common cause of inherited muscle disease, especially in presence of early respiratory involvement. Methods We studied 127 undiagnosed patients with clinical presentation compatible with MFM. Sanger sequencing for the two previously described TTN mutations in HMERF (p.C30071R in the 119th fibronectin-3 (FN3) domain, and p.R32450W in the kinase domain) was performed in all patients. Patients with mutations had detailed review of their clinical records, muscle MRI findings and muscle pathology. Results We identified five new families with the p.C30071R mutation who were clinically similar to previously reported cases, and muscle pathology demonstrated diagnostic features of MFM. Two further families had novel variants in the 119th FN3 domain (p.P30091L and p.N30145K). No patients were identified with mutations at position p.32450. Conclusions Mutations in TTN are a cause of MFM, and titinopathy is more common than previously thought. The finding of the p.C30071R mutation in 3.9% of our study population is likely due to a British founder effect. The occurrence of novel FN3 domain variants, although still of uncertain pathogenicity, suggests that other mutations in this domain may cause MFM, and that the disease is likely to be globally distributed. We suggest that HMERF due to mutations in the TTN gene be nosologically classified as MFM-titinopathy.
Journal Article
Discriminant Validity of the Adult Attachment Interview
The Adult Attachment Interview is a semi‐structured interview developed to investigate adults' attachment representations. Subjects are asked to describe their parents as caregivers, explain these descriptions, describe how their parents typically responded to distress, and discuss their current relationships with their parents. They are also asked to describe any significant losses and/or instances of abuse during childhood. Scoring focuses on the accessibility of early experiences to memory and the coherence and plausibility of the subject's narrative. Discriminant validity is always an important issue with such measures because IQ and other cognitively loaded variables offer plausible alternative interpretations or represent important correlates that should be treated as covariates when the measure is used. In addition, complex, multifaceted interviews always pose the risk of assessing general social adjustment rather than a more narrowly defined construct. This study examines the discriminant validity of the AAI vis‐á‐vis intelligence, social desirability, discourse style, and general social adjustment in a sample of 53 native‐English‐speaking, married women with preschool children. They were assessed with the AAI, a written IQ test, the Social Adjustment Scale, the Employment Experience Interview (discourse style), and a measure of social desirability. There were modest but significant correlations with IQ scores and social adjustment. There was no relation between AAI classifications and discourse style or social desirability. These results substantially strengthen the case for interpreting the AAI as an attachment‐related measure.
Journal Article
Disease diagnostics using machine learning of immune receptors
Clinical diagnosis typically incorporates physical examination, patient history, and various laboratory tests and imaging studies, but makes limited use of the human system's own record of antigen exposures encoded by receptors on B cells and T cells. We analyzed immune receptor datasets from 593 individuals to develop
, an interpretive framework to screen for multiple illnesses simultaneously or precisely test for one condition. This approach detects specific infections, autoimmune disorders, vaccine responses, and disease severity differences. Human-interpretable features of the model recapitulate known immune responses to SARS-CoV-2, Influenza, and HIV, highlight antigen-specific receptors, and reveal distinct characteristics of Systemic Lupus Erythematosus and Type-1 Diabetes autoreactivity. This analysis framework has broad potential for scientific and clinical interpretation of human immune responses.
Journal Article
Mass determination of two Jupiter-sized planets orbiting slightly evolved stars: TOI-2420 b and TOI-2485 b
Hot and warm Jupiters might have undergone the same formation and evolution path, but the two populations exhibit different distributions of orbital parameters, challenging our understanding on their actual origin. The present work, which is the results of our warm Jupiters survey carried out with the CHIRON spectrograph within the KESPRINT collaboration, aims to address this challenge by studying two planets that could help bridge the gap between the two populations. We report the confirmation and mass determination of a hot Jupiter (orbital period shorter than 10 days), TOI-2420\\,b, and a warm Jupiter, TOI-2485\\,b. We performed a joint analysis using a wide variety of spectral and photometric data in order to characterize these planetary systems. We found that TOI-2420\\,b has an orbital period of P\\(_{\\rm b}\\)=5.8 days, a mass of M\\(_{\\rm b}\\)=0.9 M\\(_{\\rm J}\\) and a radius of R\\(_{\\rm b}\\)=1.3 R\\(_{\\rm J}\\), with a planetary density of 0.477 \\gc; while TOI-2485\\,b has an orbital period of P\\(_{\\rm b}\\)=11.2 days, a mass of M\\(_{\\rm b}\\)=2.4 M\\(_{\\rm J}\\) and a radius of R\\(_{\\rm b}\\)=1.1 R\\(_{\\rm J}\\) with density 2.36 \\gc. With current parameters, the migration history for TOI-2420\\,b and TOI-2485\\,b is unclear: the high-eccentricity migration scenarios cannot be ruled out, and TOI-2485\\,b's characteristics may rather support this scenario.
Paper
The discovery and mass measurement of a new ultra-short-period planet: EPIC~228732031b
We report the discovery of a new ultra-short-period planet and summarize the properties of all such planets for which the mass and radius have been measured. The new planet, EPIC~228732031b, was discovered in {\\it K2} Campaign 10. It has a radius of 1.81\\(^{+0.16}_{-0.12}~R_{\\oplus}\\) and orbits a G dwarf with a period of 8.9 hours. Radial velocities obtained with Magellan/PFS and TNG/HARPS-N show evidence for stellar activity along with orbital motion. We determined the planetary mass using two different methods: (1) the \"floating chunk offset\" method, based only on changes in velocity observed on the same night, and (2) a Gaussian process regression based on both the radial-velocity and photometric time series. The results are consistent and lead to a mass measurement of \\(6.5 \\pm 1.6~M_{\\oplus}\\), and a mean density of \\(6.0^{+3.0}_{-2.7}\\)~g~cm\\(^{-3}\\).
Paper
Discriminant Validity of the Adult Attachment Interview
The Adult Attachment Interview is a semi-structured interview developed to investigate adults' attachment representations. Subjects are asked to describe their parents as caregivers, explain these descriptions, describe how their parents typically responded to distress, and discuss their current relationships with their parents. They are also asked to describe any significant losses and/or instances of abuse during childhood. Scoring focuses on the accessibility of early experiences to memory and the coherence and plausibility of the subject's narrative. Discriminant validity is always an important issue with such measures because IQ and other cognitively loaded variables offer plausible alternative interpretations or represent important correlates that should be treated as covariates when the measure is used. In addition, complex, multifaceted interviews always pose the risk of assessing general social adjustment rather than a more narrowly defined construct. This study examines the discriminant validity of the AAI vis-à-vis intelligence, social desirability, discourse style, and general social adjustment in a sample of 53 native-English-speaking, married women with preschool children. They were assessed with the AAI, a written IQ test, the Social Adjustment Scale, the Employment Experience Interview (discourse style), and a measure of social desirability. There were modest but significant correlations with IQ scores and social adjustment. There was no relation between AAI classifications and discourse style or social desirability. These results substantially strengthen the case for interpreting the AAI as an attachment-related measure.
Journal Article
