ObjectivesTo investigate serum 25-hydroxyvitamin D (25[OH]D) levels in patients with diabetic nephropathy, analyse the relationship between 25(OH)D and clinical indexes, and identify risk factors for vitamin D deficiency in diabetic nephropathy.MethodsPatients with diabetic nephropathy were sequentially enrolled and grouped according to diabetic nephropathy stage. Serum 25(OH)D levels were measured. A control group of healthy subjects was used for comparison.ResultsOut of 240 patients with diabetic nephropathy and 60 healthy controls, 25(OH)D levels were lower in diabetic nephropathy patients than in controls, and showed a gradually decreasing trend with diabetic nephropathy stage. Serum 25(OH)D levels were significantly correlated with age, sex, diabetes history, body mass index, systolic blood pressure, albumin excretion rate (AER), estimated glomerular filtration rate, fasting blood glucose, glycosylated haemoglobin (HbA1c), haemoglobin, serum albumin, creatinine clearance rate, blood urea nitrogen and complicated diabetic retinopathy. Moreover, age, body mass index, AER, haemoglobin, and HbA1c were independent risk factors of 25(OH)D deficiency in diabetic nephropathy.ConclusionsVitamin D deficiency is prevalent in patients with diabetic nephropathy and increases in severity with diabetic nephropathy progression. Age, obesity, glucose level and renal function largely affect 25(OH)D deficiency in diabetic nephropathy.

Purpose: Our purpose was to develop predictive nomograms for overall survival (OS), progression-free survival (PFS), and time-to-progression (TTP) at 5 years in patients with early-stage non-small cell lung cancer (ES-NSCLC) treated with stereotactic ablative radiation therapy (SABR). Methods and Materials: The study cohort included 714 ES-NSCLC patients treated with SABR from 2004-2015 with median follow-up of 59 months, divided into training and testing sets (8:2), with the former used for nomogram development.

In China, HPA, citrin deficiency, MMA, and MADD are the most common inherited disorders, particularly in newborns/infants.

A total of 10 novel MUT mutations were detected in the Chinese population. c.729_730insTT (p.D244Lfs*39) was the most frequent mutation. A genotype-phenotype correlation could not be found, but the genotypic characterization indicated the need of genetic counseling for MMA patients and early prenatal diagnoses for high-risk families.

Background This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential correlation with phenotype. Methods Sixty-nine patients with OTCD were enrolled between 2004 and 2019. Clinical and laboratory data were reviewed retrospectively from medical records. Results Fifteen cases (13 males, 2 females) presented with early onset; 53 cases (21 males, 32 females) had late onset, and one female was asymptomatic. The median onset age was 1.5 years (range 1 day–56 years). Urine orotic acid levels were increased in all patients tested, while only 47.6% of patients showed decreased serum levels of citrulline. The peak plasma ammonia levels were higher in early-onset patients than in late-onset patients (P < 0.01). Fifty-four different mutations of OTC gene were identified and 18 of them were novel. R277W (10.6%) was the most common mutation, followed by G195R (4.6%) and A209V (3.0%). By June 2019, 41 patients had survived, 24 were deceased, and 4 were lost to follow-up. Among the survivors, 13 patients had received liver transplantation at a median age of 3 years, with a one-year survival rate of 100%. The mortality of OTCD is extremely high among patients with early onset (80.0% versus 24.5% in patients with late onset). Conclusions The evaluation of serum citrulline level is of limited value in diagnosis of OTCD, while urine orotic acid detection and genetic testing are more helpful.