A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome

Glucose‐6‐phosphatase catalytic subunit 3 (G6PC3) deficiency is a newly described syndrome characterized by severe congenital neutropenia associated with multiple organ abnormalities including cardiac and urogenital malformations. The underlying pathophysiology of increased apoptosis of myeloid cells and of neutrophil dysfunction in G6PC3 deficiency involves disturbed glucose metabolism, increased endoplasmic reticulum stress and deficient protein folding. Here, we report a new case of G6PC3 deficiency caused by a novel homozygous G6PC3 gene mutation p.Trp59Arg. The patient showed pancytopenia and a variable bone marrow phenotype with maturation arrest and vacuolization in myeloid lineage cells and a normocellular marrow, respectively. She also showed persistent lymphopenia with low CD4 T‐ and CD19 B‐cell counts. Lymphopenia and even pancytopenia as well as a variable bone marrow phenotype can be part of this syndrome. These clinical findings in a patient with chronic neutropenia should alert the clinician to consider a diagnosis of G6PC3 deficiency.     

A randomised controlled trial on melatonin and rosiglitazone for prevention of adhesion formation in a rat uterine horn model

Purpose  

To investigate the effectiveness of melatonin and rosiglitazone in reducing postoperative adhesion formation in a rat uterine horn model.     

Comparison of temporal artery,nasopharyngeal, and axillary temperature measurement during anesthesia in children

Study ObjectiveTo evaluate the accuracy and precision of a new, noninvasive infrared thermometer applied to the temporal artery.DesignProspective randomized study.SettingTrakya University Hospital.Patients60 ASA physical status 1 and 2 children undergoing surgery.InterventionsDuring anesthesia, temperature measurements were recorded with three different techniques: temporal artery, nasopharynx, and axillary temperature.MeasurementsTemperatures measured from the nasopharynx, temporal artery, and the axilla were recorded at 15-minute intervals for the first hour, then at 30-minute intervals until the completion of surgery. During each measurement, heart rate and midarterial pressure were recorded.Main ResultsThere were no statistically significant differences between temperatures recorded at the temporal artery and nasopharynx at 15, 30, 45, 60, 90, and 120 minutes, and the completion of surgery. Axillary temperatures were statistically lower than those recorded at the nasopharynx and the temporal artery (P < 0.001). Bland-Altman plots showed a correlation of temperature measurements between the temporal artery and nasopharyngeal methods. The axillary method had a lower correlation with the temporal artery and the nasopharyngeal methods.ConclusionsThe temporal artery thermometer is a substitute for the nasopharyngeal thermometer for core temperature measurement during anesthesia in children.     

Proficiency and knowledge gained and retained by pediatric residents after neonatal resuscitation course

Background: In previous studies the efficacy of the Neonatal Resuscitation Program (NRP) was evaluated, demonstrating good retention of knowledge in the participants. The aim of the present study was to evaluate the knowledge and proficiency that pediatric residents gained and retained following NRP and to determine the necessity and timing of the refresher courses. Methods: The study consisted of 42 pediatric residents who were divided into three groups. Group 1 included pediatric residents who attended the course 1 year previously (n = 18); group 2, 6 months previously (n = 12); and group 3 included those residents who had not attended the NRP previously (n = 12). A written test consisting of 100 questions was applied, and endotracheal intubation skill on a neonatal manikin was evaluated. Results: The percentage of correct answers of participants in groups 1 and 2 decreased similarly during the 6 month and 1 year time period following previous courses. After the new NRP the correct answers increased significantly in groups 1 and 2. The duration of intubation attempt was 17.8 ± 6.0 s in group 1, 17.5 ± 1.5 s in group 2, and 22.3 ± 2.6 s in group 3 before the course and decreased after the course to 10.9 ± 2.0 s in group 1, 10.3 ± 1.5 s in group 2, and 11.7 ± 1.6 s in group 3. The knowledge missing after 6 months and 1 year were similar, while intubation skill decreased after 1 year following the course. Conclusions: Due to worsening of test findings at 6 months after NRP, and deterioration of performance of intubation 1 year after NRP, it is suggested that a refresher course may be required every year.     

The Effect of Docosahexaenoic Acid on Visual Evoked Potentials in a Mouse Model of Parkinson’s Disease: The Role of Cyclooxygenase-2 and Nuclear Factor Kappa-B

This study aimed to investigate the effect of docosahexaenoic acid (DHA) on visual evoked potentials (VEPs) in a mice model of Parkinson’s disease (PD). Mice model was created by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and DHA was given by gavage. Cyclooxygenase-2 (COX-2), caspase-3 activities, nuclear factor kappa-B (NF-κB) and prostaglandin E2 (PGE2) levels were determined in substantia nigra (SN) and retina. Cyclooxygenase-2 intensities were also determined immunohistochemically. The tyrosine hydroxylase (TH) immunolabelling was significantly decreased in MPTP group compared to control. Docosahexaenoic acid decreased dopaminergic neuron death in MPTP + DHA group when compared to MPTP group. Mice treated with MPTP showed motor deficits as compared to control. Significant improvement was observed in MPTP + DHA group when compared to MPTP group. Treatment with MPTP significantly increased the activity of COX-2 and total COX in SN when compared to the control group. Docosahexaenoic acid caused a significant decrease in total COX and COX-2 activity in SN of mice given MPTP. Cyclooxygenase-2 showed strong immunostaining in MPTP group when compared to other groups in SN. Levels of PGE2 increased in MPTP group when compared to control in SN. Docosahexaenoic acid treatment in MPTP group reduced PGE2 in SN. Nuclear factor kappa-B levels were found to be decreased in SN of MPTP group. The mean latencies of P1, N1, P2, N2, P3, N3, P4, N4, and P5 VEP components were significantly prolonged in MPTP group when compared to control. In MPTP + DHA group, the mean latencies of all components except P5 returned to control values. Current data shows that DHA treatment improves prolonged VEPs latencies and locomotor activity.     

Post-operative telephone review is cost-effective and acceptable to patients

Introduction

Patients undergoing selective minor emergency and elective procedures are followed up by a nurse-led structured telephone review six weeks post-operatively in our hospital. Our study objectives were to review patients'' satisfaction, assess cost-effectiveness and compare our practice with other surgical units in Northern Ireland (NI).

Patients and Methods

Completed telephone follow-up forms were reviewed retrospectively for a three-year period and cost savings calculated. Fifty patients were contacted prospectively by telephone using a questionnaire to assess satisfaction of this follow-up. A postal questionnaire was sent to 68 general and vascular surgeons in NI, assessing individual preferences for patient follow-up.

Results

A total of 1378 patients received a telephone review from September 2005 to September 2008. One thousand one hundred and seventy-seven (85.4%) were successfully contacted, while 201 (14.6%) did not respond despite multiple attempts. One hundred and forty-seven respondents (10.7%) required further outpatient follow-up, thereby saving 1231 outpatient reviews, equivalent to £41,509 per annum. Thirty-nine (78%) patients expected post-operative follow-up, with 29 (58%) expecting this in the outpatient department. However, all patients were satisfied with the nurse-led telephone review. Fifty-three (78%) consultants responded. Those who always, or occasionally, review patients post-operatively varies according to the operation performed, ranging from 2.2% appendicectomy patients to 40.0% for varicose vein surgery.

Conclusion

Current practice in NI varies, but a significant proportion of patients are not routinely reviewed. This study confirmed that patients expect post-operative follow-up. A nurse-led telephone review service is acceptable to patients, cost-effective and reduces the number of unnecessary outpatient reviews.     

CD44 expression in renal ischemia-reperfusion injury in rats

Renal ischemia-reperfusion injury (IRI) is an invariable consequence of transplantation. The tubuloepithelial expression of CD44 is markedly enhanced in autoimmune renal injuries. The aim of this experimental study was to evaluate the effect of IRI on the expression of CD44 in rat kidney. Thirty male Sprague-Dawley rats were used. The rats were divided into three groups. The rats in group 1 (n = 10) underwent laparotomy and left nephrectomy (Sham surgery). The rats in group 2 (n = 10) underwent laparotomy, 1 h renal ischemia, followed by 1 h of reperfusion and then left nephrectomy was performed. The rats in group 3 (n = 10) underwent laparotomy, 1 h renal ischemia, followed by 24 h of reperfusion and then left nephrectomy was performed. Histopathological findings and the immunohistochemical expression of CD44 in ischemic and reperfused rat kidneys were investigated. In histopathologic evaluation, non-specific changes were observed in group 2 and early phase of IRI were present in group 3. CD44 was expressed in both group 2 and 3 but not in group 1. The mean immunohistochemical staining percentages of rat kidneys in group 1, 2, and 3 were 0.00 ± 0.00, 39.90 ± 5.53, and 26.20 ± 8.38, respectively. The immunohistochemical staining pattern was more dense in group 2 than in group 3 (P < 0.001). In conclusion, the expression of CD44 in renal tubuloepithelial cells was significantly increased after IRI. The increase in CD44 expression was more prominent during the early phase of IRI and started to decline after 24 h of reperfusion.