Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria.

BACKGROUND: Hereditary hypophosphatemia rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterised by reduced renal phosphate reabsorption leading to hypophosphataemia, rickets and bone pain. Here, we present a case of HHRH in a Chinese boy. CASE PRESENTATION: We report a 11-year-old female proband, who was admitted to our hospital with bilateral genuvarum deformity and short stature. Computed Tomography (CT) showed kidney stones, blood tests showed hypophosphatemia, For a clear diagnosis, we employed high-throughput sequencing technology to screen for variants. Our gene sequencing approach encompassed whole exome sequencing, detection of exon and intron junction regions, and examination of a 20 bp region of adjacent introns. Flanking sequences are defined as ±50 bp upstream and downstream of the 5' and 3' ends of the coding region.The raw sequence data were compared to the known gene sequence data in publicly available sequence data bases using Burrows-Wheeler Aligner software (BWA, 0.7.12-r1039), and the pathogenic variant sites were annotated using Annovar. Subsequently, the suspected pathogenic variants were classified according to ACMG's gene variation classification system. Simultaneously, unreported or clinically ambiguous pathogenic variants were predicted and annotated based on population databases. Any suspected pathogenic variants identified through this analysis were then validated using Sanger sequencing technology. At last, the proband and her affected sister carried pathogenic homozygous variant in the geneSLC34A3(exon 13, c.1402C > T; p.R468W). Their parents were both heterozygous carriers of the variant. Genetic testing revealed that the patient has anLRP5(exon 18, c.3917C > T; p.A1306V) variant of Uncertain significance, which is a rare homozygous variant. CONCLUSION: This case report aims to raise awareness of the presenting characteristics of HHRH. The paper describes a unique case involving variants in both theSLC34A3andLRP5genes, which are inherited in an autosomal recessive manner. This combination of gene variants has not been previously reported in the literature. It is uncertain whether the presence of these two mutated genes in the same individual will result in more severe clinical symptoms. This report shows that an accurate diagnosis is critical, and with early diagnosis and correct treatment, patients will have a better prognosis.

Wolfram syndrome type 1: a case series.

BACKGROUND: Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabetes as the main features. Owing to clinical phenotypic heterogeneity, the misdiagnosis rate is high. However, early accurate diagnosis and comprehensive management are key to improving quality of life and prolonging life. RESULTS: Eleven patients from seven WS pedigrees with 10 mutation sites (c.1314_1317delCTTT, c.C529T, c.C529A, c.G2105A, c.C1885T, c.1859_1860del, c.G2020A, c.C529A, c.G2105A, and c.G1393C) in the WFS1 gene were included. We conducted further expert department analysis to clarify the diagnosis and analyze the correlation between genes and phenotypes. CONCLUSIONS: The genotypes of these patients were closely associated with their phenotypes. The clinical data of the patients were analyzed to provide a basis for the diagnosis and clinical management of the disease.

Divided When Crisis Comes: How Perceived Self-Partner Disagreements over COVID-19 Prevention Measures Relate to Employee Work Outcomes at Home.

As a response to the COVID-19 pandemic, our societies went into a lockdown model and many organizations required or permitted their employees to work from home. As a result, employees need to deal with the COVID-19 pandemic while they work from home, providing an opportunity to examine how COVID-19 prevention experiences influence those who are working from home. Based on the interpersonal self-regulation perspective, we propose that employees who perceive having more disagreements with their partners over COVID-19 prevention measures are more likely to experience a reduction in their identification with the partner which is subsequently associated with their negative work outcomes through emotional exhaustion. Results from a two-wave survey study with a sample of 282 employees who worked from home during the COVID-19 pandemic supported our predictions: perceived self-partner disagreements over COVID-19 prevention measures related to a reduction in identification with the partner, which was subsequently associated with exhausted regulatory resources and undermined work outcomes. Furthermore, these negative effects were particularly salient for individuals who were not married. Theoretical and practical implications for family-to-work interference and working from home in times of crisis are discussed.

Justice change matters: Approach and avoidance mechanisms underlying the regulation of justice over time.

The experience of justice is a dynamic phenomenon that changes over time, yet few studies have directly examined justice change. In this article, we integrate theories of self-regulation and group engagement to derive predictions about the consequences of justice change. We posit that justice change is an important factor because, as suggested by self-regulation theory, people are particularly sensitive to change. Also consistent with self-regulation, we posit that experiencing justice change will influence behavior via separate approach and avoidance systems. Across three multiwave and multisource field studies, we found that justice change predicts employees' engagement in work via perceived insider status along an approach path, whereas it predicts employees' withdrawal from work via exhaustion along an avoidance path, after controlling for the effects of static justice level. Moreover, these approach and avoidance effects are bounded by employees' perception of their employment situation, consistent with a regulatory fit pattern. As expected, employees' perceptions of employment opportunity, which correspond to gains, strengthen the effects along the approach path. Meanwhile, their perceptions of threat of job continuity, which correspond to losses, strengthen the effects along the avoidance path. Importantly, our set of studies highlight the unique influence of justice change incremental to static justice level. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

Capitalization on positive family events and task performance: A perspective from the work-home resources model.

Based on the work-home resources model, the present study aims to investigate the family-to-work enrichment process. Specifically, we theorize that positive child-related events and capitalizing on these events with significant others may facilitate employees' functioning at work. To test this enrichment process, we collected daily diary data from 112 Dutch working parents at 2 time points per day for 5 consecutive workdays. Specifically, we tested a mediated moderation model in which previous day positive child-related events were hypothesized to moderate the relationship between daily job demands and daily task performance through capitalization during the previous evening. As predicted, results of multilevel analyses revealed that the relationship between job demands and task performance was positive when employees had a resourceful home life, that is, experienced a high (vs. low) level of positive child-related events. In addition, sharing these positive events with significant others at home facilitated employees' functioning in dealing with job demands and further improved task performance during the subsequent workday. Finally, the moderating effect of previous day positive child-related events was mediated by capitalization at home during the previous evening. These findings suggest that capitalization is an important behavioral mechanism that prolongs the resourceful experiences in the family domain and benefits the work domain. (PsycInfo Database Record (c) 2020 APA, all rights reserved).

Daily spillover from family to work: A test of the work-home resources model.

The present study examines a mediated moderation model of the day-level effects of family hassles and family-work spillover (affect and cognition) on the relationship between job resources and employees' flourishing at work. Based on the work-home resources model, the authors hypothesized that demands from one domain (family) induce repetitive thoughts or negative feelings about those problems, so that individuals are not able to function optimally and to make full use of contextual resources in the other domain (work). Multilevel analyses of 108 Chinese working parents' 366 daily surveys revealed that the relationship between morning job resources and afternoon flourishing was significantly positive when previous day family hassles were low; the relationship became nonsignificant when previous day family hassles were high. In addition, as predicted, daily rumination also attenuated the relationship between morning job resources and afternoon flourishing, whereas daily affect did not. Finally, the moderating effect of previous day family hassles was mediated by daily rumination. The findings contribute to spillover theories by revealing the roles of affective and cognitive spillover from family to work. (PsycINFO Database Record

What Differentiates Employees' Job Performance Under Stressful Situations: The Role of General Self-Efficacy.

The aim of this research is to verify the two-dimensional challenge-hindrance stressor framework in the Chinese context, and investigate the moderating effect of general self-efficacy in the stress process. Data were collected from 164 Chinese employee-supervisor dyads. The results demonstrated that challenge stressors were positively related to job performance while hindrance stressors were negatively related to job performance. Furthermore, general self-efficacy strengthened the positive relationship between challenge stressors and job performance, whereas the attenuating effect of general self-efficacy on the negative relationship between hindrance stressors and job performance was nonsignificant. These findings qualify the two-dimensional challenge-hindrance stressor framework, and support the notion that employees with high self-efficacy benefit more from the positive effect of challenge stressors in the workplace. By investigating the role of an individual difference variable in the challenge-hindrance stressor framework, this research provides a more accurate picture of the nature of job stress, and enhances our understanding of the job stressor-job performance relationship.