[Genotype-phenotype analysis and prognosis in children with primary distal renal tubular acidosis].

Objective: The purpose of this study was to investigate the relationship between genotypes and clinical phenotypes of primary distal renal tubular acidosis (dRTA) in children. Methods: Clinical information, genetic testing information and follow-up data (until March 2021) of children with dRTA from Children's Hospital of Chongqing Medical University (from January 2010 to December 2020) were analyzed retrospectively. According to different pathogenic genes, patients were divided into SLC4A1 gene and ATP6V0A4+ATP6V1B1 gene groups. Age at onset, clinical manifestations and laboratory findings were compared. Self-comparisons of height standard deviation score (HtSDS), weight standard deviation score (WtSDS), blood pH and serum potassium before and after treatment were tested. T-test, Fisher's exact test and rank sum test were used to analyze among groups. Results: Among 27 children with dRTA (16 boys and 11 girls), the age of onset was 33.4 (10.0, 36.0) months.There were 22 patients (81%) with SLC4A1 gene variation, 3 patients (11%) with ATP6V1B1 gene variation and 2 patients (8%) with ATP6V0A4 gene variation. Totally 22 patients (81%) with renal calcium deposition, 19 patients (70%) hypokalemia, 18 patients (67%) short stature, 16 patients (59%) malnutrition, 16 patients (59%) rickets, and 15 patients (56%) polydipsia and polyuria. Noteworthily, the genotyping results indicated that the age at onset in SLC4A1 gene group was older than that in ATP6V0A4+ATP6V1B1 gene group, with a statistically significant difference (27.3 (12.0, 36.0) vs. 8.2 (2.5, 15.0) months, H=6.33, P=0.012). However, there were no significant differences in clinical manifestations or laboratory test results (all P>0.05). Furthermore, the course of disease was 3.9 (1.3, 6.0) years and the follow-up period was 3.1 (1.0, 4.5) years in 27 patients. In addition, there were no significant differences in recovery rate of clinical manifestations and last laboratory findings between SLC4A1 gene group and ATP6V0A4+ATP6V1B1 gene group (all P>0.05). HtSDS and WtSDS of those patients significantly increased after treatment (-3.2±1.9 vs. -2.1±1.1, -2.5±1.5 vs. 0±1.9, t=-2.94, -5.44, both P<0.01). Serum K+ and blood pH were restored eventually ((3.2±0.5) vs. (4.0±0.5) mmol/L, 7.27±0.07 vs. 7.37±0.07, t=-4.92, -5.25, both P<0.01). Totally 14 patients had normalized serum potassium, 12 patients had normalized blood pH, but only 4 patients had normalized serum bicarbonate concentration and normal base excess. Conclusions: The age of onset of patients who had SLC4A1 gene mutation was older than that of patients with ATP6V0A4 gene and ATP6V1B1 gene mutations. However, there was no obvious correlation between the condition and prognosis of the dRTA patients and pathogenic genes. Early diagnosis, early treatment, regular follow-up and timely adjustment of the dosage of medication can significantly improve the prognosis of dRTA in children. Serum bicarbonate concentration and actual base excess might not be the necessory indicators to assess clinical recovery.

Stress and burnout syndrome in health-care providers treating dengue infection: A cross-sectional study.

INTRODUCTION: Increased prevalence of dengue fever had led to increase stress in providing optimal care for patients. This has been identified as a potential factor that may lead to negative health effects on medical doctors. This study was designed to review the prevalence and associated factors of burnout syndrome (including depression, anxiety, and stress level) among clinicians in the setting of increasing cases of dengue in Malaysia. METHODS: A cross-sectional, multi-centre study was carried out among doctors in contact with patients with dengue infection from four major hospitals in Malaysia in 2015 using Maslach Burnout Inventory and DASS-21 questionnaire. RESULTS: A total of 313 respondents were included in this study with 15.9% of the respondents experiencing high burnout syndrome. Long working hours, depression, anxiety, and stress were significantly associated with high degree of burnout syndrome (p<0.05). However, number of dengue cases reviewed was not significantly associated with the degree of burnout syndrome. Depression and stress were among factors identified as the predictors for burnout syndrome. CONCLUSION: High degree of burnout syndrome among clinicians with significant correlations with symptoms of depression and stress will require early identification to enable early measures to resolve, as well as prevent it. Future studies with more hospitals involvement should be conducted to establish the relationship between the degree of burnout syndrome and prevalence of dengue infection.

Effect of tetramethylpyrazine on reserpine-induced gastric lesion in rats.

The present study was undertaken to determine the effect of tetramethylpyrazine administered intraperitoneally on gastric lesions, gastric acid secretion, gastric barrier mucus secretion, and gastric contraction in reserpine-treated rats. The results of this study demonstrated that tetramethylpyrazine at doses of 0.5, 1, 10, and 20 mg/kg significantly inhibited the formation of gastric lesions induced by reserpine, with suppressive rates of 57.5%, 64.0%, 94.1%, and 96.0%, respectively. Tetramethylpyrazine (1 and 20 mg/kg) significantly prompted the secretion of gastric barrier mucus but had no effect on the secretion of gastric acid. Our findings also showed that tetramethylpyrazine (1 and 20 mg/kg) significantly suppressed the frequency of gastric contractions, but had no effect on the amplitude of gastric contraction. These results indicate that the protection of tetramethylpyrazine results, in part, from promoting gastric barrier mucus secretion and suppressing the frequency of gastric contraction, but not from suppressing the secretion of gastric acid and the amplitude of gastric contraction.

Augmentation cystoplasty and closure of the urethra for the destroyed lower urinary tract.

Five paraplegic patients with pressure ulceration complicated by incontinence related to fistula formation were treated by deliberate closure of the urethra and augmentation cystoplasty with a continent stoma. This procedure is similar in scope to urinary diversion but preserves a low-pressure reservoir and obviates the use of tubes for drainage of urine. Overall outcome was excellent. Valvular failure occurred in one patient and required revision. The follow-ups range from 1 to 5 years, with a mean of 24 months. One patient developed reservoir calculi as a late complication, necessitating removal with flexible endoscopy via the continent conduit. All patients have preserved normal upper tracts. Augmentation cystoplasty with closure of the urethra is a reasonable procedure in such patients providing for low-pressure urinary storage and permitting secondary or simultaneous plastic surgical procedures on perineal pressure ulceration and osteomyelitis.