The Phenotypic and Genotypic Spectrum of CSF1R-Related Disorder in China.

BACKGROUND: Colony-stimulating factor 1 receptor (CSF1R)-related disorder (CRD) is a rare autosomal dominant disease. The clinical and genetic characteristics of Chinese patients have not been elucidated. OBJECTIVE: The objective of the study is to clarify the core features and influence factors of CRD patients in China. METHODS: Clinical and genetic-related data of CRD patients in China were collected. Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCA), and Sundal MRI Severity Score were evaluated. Whole exome sequencing was used to analyze the CSF1R mutation status. Patients were compared between different sexes, mutation types, or mutation locations. RESULTS: A total of 103 patients were included, with a male-to-female ratio of 1:1.51. The average age of onset was (40.75 ± 8.58). Cognitive impairment (85.1%, 86/101) and parkinsonism (76.2%, 77/101) were the main clinical symptoms. The most common imaging feature was bilateral asymmetric white matter changes (100.0%). A total of 66 CSF1R gene mutants (22 novel mutations) were found, and 15 of 92 probands carried c.2381 T > C/p.I794T (16.30%). The MMSE and MoCA scores (17.0 [9.0], 11.90 ± 7.16) of female patients were significantly lower than those of male patients (23.0 [10.0], 16.36 ± 7.89), and the white matter severity score (20.19 ± 8.47) of female patients was significantly higher than that of male patients (16.00 ± 7.62). There is no statistical difference in age of onset between male and female patients. CONCLUSIONS: The core manifestations of Chinese CRD patients are progressive cognitive decline, parkinsonism, and bilateral asymmetric white matter changes. Compared to men, women have more severe cognitive impairment and imaging changes. c.2381 T > C/p.I794T is a hotspot mutation in Chinese patients. © 2024 International Parkinson and Movement Disorder Society.

Strain, bending, refractive index independent temperature sensor based on a graded index multimode fiber embedded long period fiber grating.

A novel embedded ultra-long period fiber grating (EULPFG) based on a graded index multimode fiber (GI-MMF) is proposed for temperature measurement. Due to the small RI difference of the modes near the GI-MMF self-imaging point, the resonant peak of transmission spectrum is wavelength-insensitive to refractive index (RI), strain and bending. However, the sensor is sensitive to temperature. The experimental results show that the temperature sensitivity of the EULPFG is 90.77 pm/°C. The sensitivities of other physical parameters are suppressed, and the suppressed sensitivities are at least one order of magnitude less than those of similar sensors. The EULPFG with anti-interference from other parameters is expected to be used in ocean monitoring systems to measure the temperature of the seawater.

All fiber compact bending sensor with high sensitivity based on a multimode fiber embedded chirped long-period grating.

We investigated and prepared a chirped long-period grating for high sensitivity bending measurement. The novel fiber structure is composed of the multimode fiber (MMF) with fixed length and gradually longer single-mode fiber using the continuous splicing method. The powerful ability of refractive index modulation in the MMF renders the miniaturization of the sensor. The total length of the sensor is 3.45 mm. Chirped period arrangement is adopted to improve the bending sensitivity. Through numerical calculation, the chirp coefficient is determined, and the clear resonance peaks are obtained using the wavelength scanning. The experimental results of several samples show that the maximum bending sensitivity is 53.68nm/m-1 at 0-1.803m-1. With the advantages of small size and high sensitivity, the sensor is especially suitable for bending sensing with a micro-structure.

Few-mode fiber-embedded long-period fiber grating for simultaneous measurement of refractive index and temperature.

A few-mode fiber (FMF)-embedded long-period fiber grating is proposed as a sensor for simultaneous measurement of refractive index and temperature. Periodically embedding the FMFs induces the local refractive index modulation to achieve a compact sensor size and obtains a low insertion loss. The simulated results show that the two resonance dips have opposite waveguide dispersion coefficients. Therefore, they show different refractive indices and temperature sensitivities in the experiment. At the same time, the spectral characteristics of double-resonance dips provides a condition for simultaneous measurement of two parameters. By monitoring wavelength shift of the two dips, the simultaneous measurement of refractive index and temperature is easily realized.