Background Renal hypodysplasia/aplasia-3 (RHDA3), as the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract, is mainly caused by mutations in GREB1L. However, the mutations in GREB1L identified to date only explain a limited proportion of RHDA3 cases, and the mechanism of GREB1L mutations causing RHDA3 is unclear. Results According to whole-exome sequencing, a three-generation family suffering from RHDA3 was investigated with a novel missense mutation in GREB1L, c.4507C>T. All three-generation patients suffered from unilateral absent kidney. This missense mutation resulted in sharp downregulation of mRNA and protein expression, which might lead to RHDA3. Mechanistically, through RNA-sequencing, it was found that the mRNA levels of PAX2 and PTH1R, which are key molecules involved in the development of the kidney, were significantly downregulated by knocking out GREB1L in vitro. Conclusions This novel missense mutation in GREB1L can be helpful in the genetic diagnosis of RHDA3, and the discovery of the potential mechanism that GREB1L mutations involved in RHDA3 pathogenesis can promote the adoption of optimal treatment measures and the development of personalized medicine directly targeting these effects.

Background Measurement of the posterior tibial slope (PTS) angle has important applications in total knee replacement surgery, high tibial osteotomy, and anterior cruciate ligament reconstruction. This study aimed to determine the mean PTS of knee joints in healthy Chinese adults, and provide data to guide knee surgery in China. Methods A retrospective analysis of 1257 (n = 1233, 50.4% male) plain X-ray films of participants aged 25–59 years was performed. The picture archiving and communication system was used for PTS measurement. The PTS was defined as the angle between the vertical line of the tangent of the anterior tibial cortex of the proximal tibia, and the tangent line of the tibial cortex. Two imaging physicians conducted the PTS measurements independently, and both the inter- and intraclass correlation coefficients (ICCs) were calculated. Results The mean PTS value was 7.68 ± 3.84° (range: 0–21°). The left PTS was significantly smaller in males than in females (7.22 ± 3.89 vs 8.05 ± 3.60; P = 0.005). Additionally, the PTS in participants aged 25–29 years was significantly larger than that in the other age groups (Left side: 8.64 ± 3.73 vs 6.92 ± 3.42, 7.42 ± 3.75, 7.53 ± 3.98; P <  0.001 and Right side: 8.68 ± 3.84 vs 7.48 ± 4.21, 7.13 ± 3.64, 7.66 ± 3.80; P = 0.004). There were no significant differences in PTS between the left and right sides. Two-way analysis of variance suggested that the differences in PTS between age groups were not affected by sex. The interobserver ICC was 0.91 (95% confidence interval [CI]: 0.85–0.94), and the intraobserver ICC was 0.90 (95% CI: 0.82–0.94). Conclusions This study demonstrated that there were significant differences in PTS based on sex and age, highlighting the need to provide individualized treatment for knee surgery. It provided valuable information regarding the normal PTS values in Chinese adults and presented regionalised data to guide knee surgery.

Introduction: Recent studies suggested that sarcopenia may be a significant comorbidity of diabetes mellitus (DM). Nonetheless, studies with nationally representative data are scarce, and the changing trend of sarcopenia prevalence over time is largely unknown. Therefore, we aimed to estimate and compare the prevalence of sarcopenia in diabetic and non-diabetic United States (US) older population, and to explore the potential predictors of sarcopenia as well as the trend of sarcopenia prevalent in the past decades. Methods: Data was retrieved from the National Health and Nutrition Examination Survey (NHANES). Sarcopenia and DM were defined according to corresponding diagnosis criteria. Weighted prevalence was calculated and compared between diabetic and non-diabetic participants. The differences among age and ethnicity groups were explored. Results: A total of 6381 US adults (>50 years) were involved. The overall prevalence of sarcopenia was 17.8% for US elders, and the prevalence was higher (27.9% vs. 15.7%) in those with diabetes ones than those without. Stepwise regression revealed that sarcopenia was significantly associated with DM (Adjusted odds ratio=1.37, 95%CI: 1.08-1.22; P<0.05) after controlling for potential confounders including gender, age, ethnicity, educational level, BMI and muscle strengthening activity. A slightly fluctuate but overall increasing trend of sarcopenia prevalence was observed among diabetic elders while no obvious changing trend was observed in their counterparts in recent decades. Conclusion: Diabetic US older adults face significantly higher risk of sarcopenia when compared with their non-diabetic counterparts. Gender, age, ethnicity, educational level and obesity were important influencing factors of sarcopenia development.

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