Paternal origin of trisomy 21 following intracytoplasmic sperm injection (ICSI)

One important aspect in the debate on the genetic risks associated with intracytoplasmic sperm injection (ICSI) is the possible increased rate of chromosomal abnormalities in resulting pregnancies. ICSI was performed in a 27 year old man with asthenoteratozoospermia and his 25 year old wife. There was a spontaneous miscarriage at 9 weeks of gestation. Cytogenetic investigation revealed trisomy 21. Analysis of two polymorphic microsatellite markers showed that the additional chromosome was paternal. This is in contrast to the fact that the vast majority of trisomic concepti are maternal in origin. Identifying the parent of origin in trisomic conceptions achieved by ICSI may reveal whether ICSI is associated with an increased risk of paternally derived aneuploidy.      

Pregnancy outcome and anti-Ro/SSA in autoimmune diseases: a retrospective cohort study

OBJECTIVE: In the present retrospective cohort study, the association of anti-Ro/SSA antibody with pregnancy loss and adverse pregnancy outcome in women with autoimmune diseases was investigated. MATERIALS AND METHODS: Obstetric histories of 154 anti-Ro/SSA-positive women with autoimmune diseases [78 systemic lupus erythematosus (SLE) and 76 non- SLE] were analysed and compared to a control group of 142 anti-Ro/SSA- negative women (71 SLE and 71 non-SLE) matched for disease diagnosis and age at the time of anti-Ro/SSA diagnosis. Obstetric history was also obtained and analysed from a group of healthy women, frequency matched to anti-Ro/SSA-positive women on age at study entry. RESULTS: The rate of pregnancy loss and adverse pregnancy outcome did not differ significantly between anti-Ro/SSA-positive women, anti-Ro/SSA-negative women and healthy controls. Anti-Ro/SSA-positive SLE women reported a significantly higher rate (18.0%) of therapeutic abortions compared to anti-Ro/SSA-negative women (5.6%, P=0.0244) and healthy controls (4.6%, P=0.0013). Anti-Ro/SSA non-SLE-positive women reported a significantly higher rate (23.7%) of recurrent pregnancy loss in comparison to anti- Ro/SSA-negative women (7.04%, P=0.0063) and healthy controls (6.4%, P=0.0004). CONCLUSIONS: Although anti-Ro/SSA antibody does not adversely affect pregnancy outcome in SLE patients, it appears to be associated with recurrent pregnancy loss in non-SLE patients.      

Epidemiology of death in the emergency department of a tertiary health centre south-south of Nigeria

Background

The emergency department (E.D) of any hospital is an important entry point of critically ill patients. The initial management of these patients is often challenging, and for valuable lives to be saved, the in fracture and manpower should be up to date.

Objective

To analyze the epidemiology of death in our Emergency Department within 72hours after admission, the death rate, and to establish any contributory factors.

Method

Demographic data, time of arrival at the ED, physical finding, the Glasgow coma scale(GCS), the injury severity score(ISS), the diagnosis, investigations done, treatment offered, the time of death and the autopsy report, were entered into a Proforma. These data was analyzed using EPI-Info statistical programme version 3.4.3 of 2007.

Results

Four thousand and eleven (4,011) patients were seen in the E.D during the period. A total of three hundred and fifty five (355) mortalities were recorded. Their ages ranged from 4–87years, with an average of 34.5years. The male: female ratio was 2.1:1. The overall mortality in the hospital during the period was 859: the E.D mortality figure representing 41.3%. Fifteen patients were brought in dead. The 355 deaths fell into two categories: trauma and non-trauma. One hundred and forty-seven (41.4%) persons died from trauma; road traffic accidents (RTAs) accounting for 118 (80.3%). Two hundred and eight (58.6%) persons died from nontrauma related causes, with chronic cardiovascular disorders been the most frequent cause of death 52[25.0]. Majority of the mortalities were between 26–50 years age range. 86.2% of the mortalities presented late, greater than 6hours after the incidence. Within the 72 hours period, only 129(36.3%) were able to do the requested tests. Out of the 355 deaths, only 4[1.1%] were autopsied. An in-hospital 72hours death rate of 8.6 was recorded.

Conclusion

Road traffic accidents and cardiovascular disorders are the common causes of emergency death in UCTH. A recorded death rate of 8.6% is high, suspected contributory factors include systemic deficiencies such as the lack of a trauma system, prehospital care; late presentation, the role of chemist operators, traditional healers, and delayed referral systems.