[Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province].

OBJECTIVE: To explore the prevalence, clinical features, genetic characteristics and prognosis of Citrin deficiency in Henan province of China. METHODS: A total of 986 565 neonates screened by tandem mass spectrometry at the Third Affiliated Hospital of Zhengzhou University from January 2013 to December 2021 were retrospectively analyzed. Analysis of SLC25A13 gene variants and parental verification were carried out for neonates suspected for Citrin deficiency by next-generation sequencing. The clinical, biochemical and genetic characteristics of Citrin deficiency patients were integrated to guide the diet treatment and follow up the growth and development. Paired-t test was used to compare the amino acid levels in the peripheral blood samples before and after the treatment. RESULTS: Nine cases of Citrin deficiency were diagnosed among the 986 565 neonates. Specific elevation of citrulline was observed in all of the 9 cases. Six variants were detected by genetic sequencing, among which c.852_855delTATG, c.615+5G>A, c.550C>T and IVS16ins3kb were known pathogenic variants, whilst c.1111_1112delAT and c.837T>A were unreported previously. The detection rate for c. 852_855delTATG was the highest (61.6%, 11/18), followed by IVS16ins3kb (16.7%, 3/18). The clinical symptoms of all patients were relieved after the treatment, and the blood amino acid profile and biochemical parameters were significantly improved by gradually falling within the normal range. By June 2022, all patients had shown a good prognosis. CONCLUSION: The prevalence of Citrin deficiency among neonates from Henan Province by tandem mass spectrometry is 1/109 618, and the carrier rate for the pathogenic variants of the SLC25A13 gene was 1/166. The c.852_855delTATG may be a hot spot variant among the patients. Discovery of the novel variants has enriched the mutational spectrum of the SLC25A13 gene. Above results have provided a basis for the early diagnosis, treatment, prognosis and genetic counseling for the affected families.

Assessment of postural sway with a pendant-mounted wearable sensor.

BACKGROUND: Body-worn inertial measurement unit (IMU) sensors have been widely used in postural stability and balance studies because of their low cost and convenience. In most of these studies, a single IMU sensor is attached to a waist belt near the body's center of mass. Some populations such as pregnant women, however, may find a waist belt challenging in terms of fit and comfort. For this reason it may be useful to identify an alternative location for placement of an IMU and a more comfortable means for attaching the sensor to the body. Research question Does placing an IMU sensor in a pendant worn around the neck permit discrimination between conditions with varying postural stability? METHODS: Twenty-six healthy participants performed three standing tasks (double-leg, tandem, and single-leg standing) under eyes-open and eyes-closed vision conditions to preliminarily assess the ability of the pendant sensor to discriminate between balance conditions. Discrimination based upon data from a belt-mounted IMU was assessed in the same trials. Differences in standard deviation of acceleration components, sway area, and jerkiness due to trial condition and sensor were evaluated using analysis of variance followed by post hoc comparisons. These data were also incorporated into receiver-operator characteristic (ROC) curve analysis to assess the effectiveness of each sensor at discriminating between conditions. RESULTS: Stability was found to vary across conditions, but there was no interaction between stability and sensor location (all p ≥ 0.323). ROC curve analysis showed that sensors in both locations were good discriminators between conditions. Significance Placing an IMU in a pendant may be feasible for studying and monitoring postural instability. This approach may be especially valuable when considering populations for which wearing a belt is uncomfortable.