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ABSTRACT Background Testing of antiphospholipid antibodies (aPLs) has attracted increasing attention for its association with thrombosis and pregnancy loss. However, few studies reported long‐term monitoring outcomes of patients who experienced pregnancy loss and exhibited positivity for aPLs. Objective We investigated the causes of fetal death in five cases with positive aPLs and traced the patients for changes in aPLs, subsequent pregnancy outcomes, and thrombotic events. Methods This is a report of five typical cases from a prospective cohort study on the diagnosis of antiphospholipid syndrome (APS) in patients who were hospitalized for fetal death in Xining, China. Long‐term follow‐up was conducted and repeat aPL testing was recommended when the patients were confirmed or suspect APS. Results All five patients had subsequent pregnancies that resulted in term livebirths. None of the patients experienced thrombotic events. One showed progression of aPL serostatus from alone IgM of aβ2GP‐1 to both IgM and IgG of aβ2GP‐1, two exhibited fluctuation of aPL serostatus, and one had negative conversion, and the other one had not retested aPLs and did not receive any intervention with uneventful subsequent pregnancy. Conclusions The aPLs of a patient with APS may develop or may disappear, so long‐term monitoring cannot be discounted. Also, a woman who has experienced fetal death and exhibits positivity for aPLs may not necessarily be a patient with APS, as there are a variety of conditions in which aPLs appear.

Abstract Background Nance–Horan syndrome (NHS) is a rare X-linked dominant disorder caused by pathogenic variants in the NHS gene on chromosome Xp22.2-Xp22.13. Clinical manifestations consist of congenital cataracts, along with dysmorphic facial features and dental anomalies and, in certain instances, intellectual disability. This study aimed to identify the genetic cause responsible for NHS in a Chinese family with four individuals primarily presenting with congenital cataracts. Methods Genomic DNA was collected from six family members, including four affected individuals (three females and one male) from a two-generation family. The family history and clinical data were documented. Whole-exome sequencing was performed on the proband, and candidate pathogenic variants were filtered through a series of screening steps and validated by Sanger sequencing. Co-segregation analysis was conducted to confirm the pathogenicity of the identified variant. Results Genetic analysis revealed a novel frameshift pathogenic variant in NHS gene (c.1735delA: p.R579Gfs*91) present in all four affected members. All affected members exhibited congenital cataracts, congenital ptosis, strabismus, high myopia as well as dental and facial anomalies, and more severe characteristic features observed in the male patient. These clinical manifestations were consistent with the phenotype of NHS. Conclusion This study identified a novel NHS pathogenic variant in a Chinese family, expanding the mutational spectrum of NHS. Contrary to previous reports of female carriers exhibiting mild symptoms, we demonstrated severe ocular phenotypes in three affected females. These findings will assist in providing genetic counseling for NHS patients.

We developed a Hermitian operator representation of the Unruh channel for a driven accelerated detector in the presence of external noise. This representation is then used to provide a generalized analytical approach to a non-inertial evolution subjected to quantum weak measurements. The quantum information facets were then improved by performing weak measurements before and after the quantum channel. The external noise was modeled using a phase damping channel. The prominent oscillations of the quantum information are caused by vacuum fluctuations of the quantum fields coupled to the detector. Steady values are obtained for the quantum coherence and quantum Fisher information using the Unruh effect. Thus, quantum weak measurements can effectively suppress the decoherence induced by the relativistic acceleration. By comparing with cases without weak measurements, we demonstrate that there exist some regions with optimal measurement strengths that enhance the quantum coherence and quantum Fisher information. The effects of conditional improvement on the quantum information facets are still obvious in the presence of external noise.