The first South American case of pre-implantation genetic diagnosis to select compatible embryo for cord blood transplantation as treatment for sickle cell anemia
JORNAL BRASILEIRO DE REPRODUCAO ASSISTIDA
Authors: Martinhago, Ciro D.; Endo, Kalina R. N.; Oliveira, Mariana A.; Dias, Alex M. M.; Pereira, Gislaine S.; Azzolini, Augusto M.; Estrada, Paula R. Q.; Bruzaca, Caio G.; Martinhago, Ana Carolina N.
Abstract
Sickle cell anemia is an inherited systemic hemoglobinopathy that affects hemoglobin production in red blood cells, leading to early morbidity and mortality. It is caused by a homozygous nucleotide substitution (c.20A>T) in the beta-globin gene (HBB) that changes a glutamic acid to a valine in the protein. We present a case report of a fertile couple, both carriers of the sickle cell anemia mutation, with one affected daughter. Six cycles of assisted reproductive techniques were performed, resulting in 53 embryos in cleavage stage. Each embryo was biopsied and analyzed for pre-implantation genetic diagnosis (PGD) by fluorescent polymerase chain reaction, using polymorphic markers of the region of interest followed by capillary electrophoresis in an automated genetic analyzer. HLA Compatible and normal embryos for the mutation represented 3 (5.66%); while the carriers and compatible 6 (11.32%); therefore, embryos matching those of the affected daughter represented 9 (16.98%). A selected embryo in blastocyst stage was transferred, resulting in a healthy male newborn, who had the umbilical cord blood cells collected and stored. The affected daughter was immunosuppressed and received transplanted cells from the umbilical cord blood of her brother; the treatment was successful. Embryo selection using PGD technologies represent the most effective treatment plan for parents who want to have a healthy child, and it could cure another child already affected by inherited hemoglobinopathy.
Effect of skill drills on neonatal ventilation performance in a simulated setting-observation study in Nepal
BMC PEDIATRICS
Authors: Gurung, Rejina; Gurung, Abhishek; Sunny, Avinash K.; Basnet, Omkar; Shrestha, Shree Krishna; Gomo, Oystein Herwig; Myklebust, Helge; Girnary, Sakina; Ashish, K. C.
Abstract
Aim: Maintaining neonatal resuscitation skills among health workers in low resource settings will require continuous quality improvement efforts. We aimed to evaluate the effect of skill drills and feedback on neonatal resuscitation and the optimal number of skill drills required to maintain the ventilation skill in a simulated setting. Methods: An observational study was conducted for a period of 3 months in a referral hospital of Nepal. Sixty nursing staffs were trained on Helping Babies Breathe (HBB) 2.0 and daily skill drills using a high-fidelity manikin. The high-fidelity manikin had different clinical case scenarios and provided feedback as "well done" or "improvement required" based on the ventilation performance. Adequate ventilation was defined as bag-and-mask ventilation at the rate of 40-60 breaths per minute. The effective ventilation was defined as adequate ventilation with a "well done" feedback. We assessed the correlation of number skill drills and clinical case scenario with adequate ventilation rate using pearson's correlation. We assessed the correlation of number of skill dills performed by each participant with effective ventilation using Mann Whitney test. Results: Among the total of 60 nursing staffs, all of them were competent with an average score of 12.73 +/- 1.09 out of 14 (p < 0.001) on bag-and-mask ventilation skill checklist. Among the trained staff, 47 staffs participated in daily skill drills who performed a total of 331 skill drills and 68.9% of the ventilations were done adequately. Among the 47 nursing staffs who performed the skill drills, 228 (68.9%) drills were conducted at a ventilation rate of 40-60 breathes per minute. There was no correlation of the adequate ventilation with skill drill category (p = 0.88) and the level of skill performed (p = 0.28). Out of 47 participants performing the skill drills, 74.5% of them had done effective ventilation with a mean average of 8 skill drills (SD +/- 4.78) (p-value- 0.032). Conclusion: In a simulated setting, participants who had an average skill drill of 8 in 3 months had effective ventilation. We demonstrated optimal skill drill sessions for maintain the neonatal resuscitation competency. Further evaluation will be required to validate the findings in a scale up setting.