Medicine
-
Case Reports
A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report.
Warburg Micro syndrome is a rare, autosomal recessive disorder characterized by multiple organ abnormalities involving the ocular, nervous, and genital systems. This case report describes a novel mutation in the RAB3GAP1 gene associated with Warburg Micro syndrome. ⋯ The c.75-2A>C mutation in RAB3GAP1 expands the spectrum of known mutations in this gene, and it may be associated with Warburg Micro syndrome. Genetic counselors may wish to take this finding into consideration, especially given the poor prognosis associated with the disease.
-
Mycoplasma pneumoniae (MP) infection in infants is usually overlooked and it might result in important complications if left untreated. MP-induced arthritis is probably the least common extrapulmonary manifestation and frequently leads to delays in the diagnosis. ⋯ The awareness of MP-induced arthritis in children represents the cornerstone in preventing diagnostic delays and initiating the proper treatment.
-
Observational Study
Baseline serum triglyceride predicts early-onset peritonitis and prognosis in incident CAPD patients.
We aimed to investigate the hypothesis that serum triglyceride (TG) may be an independent predictor of early-onset peritonitis and prognosis in incident continuous ambulatory peritoneal dialysis (CAPD) patients. In this retrospective, observational study, we screened 291 adults admitted to the PD center of the Wuhan No. 1 hospital from August 1, 2013 to November 31, 2017. All biochemical data were collected at the first 1 to 3 months after the initiation of CAPD. ⋯ We divided patients into two groups based on the median baseline TG levels: TG ≥ 1.4mmo/L group (n = 143) and TG < 1.4mmol/L group (n = 148). There were 34 (11.7%) patients died and 33 (11.3%) patients transferred to hemodialysis during the follow-up, Moreover, a level of TG ≥ 1.4mmol/L at the initiation of CAPD was associated with a significantly increased probability of technical failure (hazard ratio, HR, 1.30; 95% confidence interval, 95% CI, 1.09 to 2.19, P = .043) and overall mortality (HR, 2.33; 95% CI, 1.16-4.72, P = .018). Serum TG levels measured at the initiation of PD therapy is an independent predictor of early-onset peritonitis and prognosis of CAPD patients.
-
In this article, we report interesting clinical manifestation of spontaneous bilateral fallopian tube pregnancies in a patient with a didelphic uterus. ⋯ To the best of our knowledge, clinical manifestation of spontaneous bilateral fallopian tube pregnancies in a patient with a didelphic uterus has never been reported before. Based on the experience with this case, we suggest that if a gestational sac is found in 1 fallopian tube, the contralateral fallopian tube needs to be examined for an ectopic pregnancy during surgery.
-
The mortality rate of women due to firearms increases every day in Brazil and globally. This study aimed to evaluate the trends of firearm-related mortality in women from the years 2007 to 2016 in order to determine their profile and to associate these indicators with public policy and strategies to reduce mortality. This is an ecological time-series study using secondary data of women aged 10 to 49 years old collected through the mortality information system (SIM) in Brazil. ⋯ There was an increase in the mortality rate of women who received 4 to the 7 years of education, were single, and brown-skinned. There was a significantly increased rate of mortality in women whose ages ranged from 20 to 29 years followed by 30 to 39 years; the rate was also significantly higher in the northeast region followed by the southeast region. There is a need for professional training to assist women in vulnerable situations.