[Current status of hyperkalemia in dialysis patients in China].

Objective: To investigate the prevalence and associated factors of hyperkalemia in dialysis patients. Methods: Patients underwent hemodialysis (HD) and peritoneal dialysis (PD) from multi-center databases were recruited from January 2017 to December 2019, and those aged ≥18 years and with dialysis duration ≥3 months were included to analyze the prevalence and related factors of hyperkalemia. Results: A total of 12 364 patients were enrolled in the study, and 6 836 cases were men. The average age of the patients was (51±15) years. Among these patients, 4 230 cases underwent HD while 8 134 received PD. Hyperkalemia was detected in 20.7% (2 554/12 364) of the patients while hypokalemia was found in 17.0%(2 102/12 364) of the patients. Multivariate logistic regression showed that HD (OR=2.25, 95%CI: 1.54-3.30), diabetes mellitus (DM) (OR=1.65, 95%CI: 1.17-2.32), high body mass index (BMI) (OR=1.06, 95%CI: 1.03-1.09), high levels of serum albumin (OR=1.04, 95%CI: 1.01-1.07) and phosphorus (OR=3.12, 95%CI: 2.44-4.00), low levels of serum bicarbonate (OR=0.89, 95%CI: 0.87-0.92), triglycerides (OR=0.76, 95%CI: 0.68-0.85) and creatinine (OR=0.95, 95%CI: 0.90-0.99), usage of angiotensin converting enzyme inhibitor/Angiotensin Ⅱ receptor antagonist (ACEI/ARB, OR=1.38, 95%CI: 1.11-1.72) and beta-blocker (OR=1.32, 95%CI: 1.07-1.64) were associated with hyperkalemia. Conclusions: Hyperkalemia occurred in 20.7% of the dialysis patients. HD, DM, high BMI, high levels of serum albumin and phosphorus, low levels of serum bicarbonate, triglycerides and creatinine, use of ACEI/ARB were associated with hyperkalemia.

A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease.

Reports of terminal and interstitial deletions of the long arm of chromosome 2 are rare in the literature. Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with syndactyly, type III Waardenburg syndrome, and congenital heart disease. High-resolution chromosome analysis to detect copy number variations was carried out using an Affymetrix microarray platform, and the genes affected by the patient's deletion, including IHH, were determined. However, no copy number changes were observed in his healthy parents. The present case exhibited novel syndactyly features, broadening the spectrum of clinical findings observed in individuals with 2q interstitial deletions. Our data, together with previous observations, suggest that IHH haploinsufficiency is the principal pathogenic factor in the syndactyly phenotype in this study, and that different types of variations at the IHH locus may cause divergent disease phenotypes. This is the first report of the involvement of IHH haploinsufficiency in syndactyly phenotype.

Comparison of imaging value for diabetic lower extremity arterial disease between FBI and CE-MRA.

OBJECTIVE: This study adopted self-control study method to assess the efficacy of fresh blood imaging (FBI) and contrast-enhanced MR angiography (CE-MRA) for patients with diabetic lower extremity arterial disease (DLEAD) (Fontaine stage I to IV), and to evaluate the imaging of lower extremity peripheral arterial disease (PAD) in different stages of diabetes mellitus (DM). PATIENTS AND METHODS: 1. This study recruited 44 diabetic patients with suspected lower extremity PAD to take both FBI and CE-MRA. 2. Two experienced cardiovascular radiologists assessed the image quality, the detection of lower extremity arterial branches, and tissue contamination (veins, arteries, and soft tissues) of FBI and CE-MRA, as well as the presence and severity of stenotic lesions. 3. Statistical differences of the quality of FBI and CE-MRA were determined using paired t-test. 4. Correlation analysis was adopted for determining the direction and strength of the relationship between the changes of the indexes of FBI and the different Fontaine stages. RESULTS: 1. The quality evaluation results of the image of lower extremity arteries from the 44 diabetic patients indicated no statistically significant difference between FBI and CE-MRA in the patients with Fontaine stage I-III (p >0.05). However, a statistically significant difference was observed in the patients with Fontaine stage IV (p <0.05), and the quality of FBI was slightly worse. 2. Arterial branches that observed from FBI and CE-MRA were 885 and 904, respectively. There was no statistically significant difference for the arterial branches between FBI and CE-MRA in the patients with Fontaine stage I-III (p >0.05). However, a statistically significant difference was observed in the patients with Fontaine stage IV (p <0.05), and CE-MRA indicated more artery branches than FBI. 3. There was a statistically significant difference for the evaluation of venous contamination between FBI and CE-MRA (p <0.05), and there was less venous contamination using FBI. 4. The study results indicated that with Fontaine stages going on the FBI's image quality and arterial branches reduced gradually, and the degree of tissue interference and arteriostenosis was rising gradually. CONCLUSIONS: The results of this study indicated that using FBI in lower extremity PAD of diabetics had good quality and high diagnostic accurancy, and the tissue contamination (veins and soft tissues of calf) was effectively avoided. Especially in Fontaine stage I-III, FBI can be used as an alternative technique of CE-MRA, and it also can be used in diabetic patients with renal impairment in Fontaine IV.

Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children.

Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder characterized by hamartomas in multiple organs and is caused by a wide spectrum of mutations in 1 of 2 causative genes (TSC1 or TSC2). Here, we present mutational analyses of the TSC1 and TSC2 genes in 4 cases of TSC in Chinese Han children, including 2 familial and 2 sporadic cases, using PCR and DNA sequencing of the entire coding region as well as exon-intron boundaries of these genes. Three mutations were identified in the TSC2 gene. Of these mutations, 2 mutations (c.3312-3313delGA and c.45delT) were novel, and the 3rd mutation (c.5238-5255del) was previously reported in Chinese Han and other populations. These mutations were not present in healthy family members or in 100 unrelated normal controls. The identification of these mutations in this study further expands the spectrum of known TSC2 gene mutations and contributes to prenatal molecular diagnosis and preimplantation genetic testing of TSC.

Rescue from neutropenic fever and a bamboo pole.

We describe a patient admitted to the intensive care unit following a penetrating head injury. This patient developed agranulocytosis and subsequently pancytopenia secondary to an idiosyncratic drug reaction. The possible causative drugs are phenytoin, cloxacillin, ceftriaxone and ceftazidime. The patient was treated with recombinant human granulocyte colony-stimulating factor.